VISSEQ Data Explorer
About
Lamin A
PTEN iPSC
PTEN Neurons
Data download
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Selected variants
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Use the search bar and the add/remove buttons to select any variants or groups of variants you are interested in. They will show up highlighted in the UMAP and heatmap plots below. When you have made your selections, click the "Update plots" button to reload the page
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Synonymous
Frameshift
3nt Deletion
Nonsense
ClinVar: LP
ClinVar: P
ClinVar: LB
PHTS
ASD/DD
Somatic cancer
gnomAD controls
Cluster 1
Cluster 2
Cluster 3
Cluster 4
Cluster 5
Cluster 6
Cluster 7
Cluster 8
Cluster 9
Cluster 10
Selected features
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Use the search bar and the add/remove buttons to select any cellular features you are interested in. By clicking on individual features they can be selected and removed using the remove button.
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Intensity MeanIntensity mEGFP-PTEN
Intensity MeanIntensity pAKT
Correlation Correlation DAPI mEGFP-PTEN
Variant UMAP
D115M
G132R
K144W
H123T
V119R
T167E
T131F
K163K
R130E
M134S
A121I
K147C
L139E
G143F
V119S
E157fs
L146R
V158D
K163E
G156R
H141F
F145-
L139H
L139I
F154M
V158Y
K125G
G156fs
D116N
D153W
D115L
A148R
R173fs
I135R
D116K
E157L
G165Q
P169P|S170-
K147fs
V119I
I135E
A151D
G132N
E114C
Q171N
I168F
D162S
G129L
H141E
E150Y
L152R
L146D
K128C
A121K
D115E
E114G
T160N
Q149M
S170N
C124V
I168T
Q149I
V158F
H141A
K128V
H141K
P169I
Y138M
K128S
K147Q
C136W
K125D
D162-
Q149L
K128I
S170K|Q171-
E157V|V158-
Y138V
I122C
D153Y
S170*
G127D
G165R
E288fs
L152Y
E114H
K128-
L140Q
W111fs
G129F
A120N
A121T
K144S
G143G|K144-
F145E
A120Q
L112R
G143N
K144K
C124A
E157M
G129P
H123M
C124S
F154Y|Y155-
K147W
A121W
P169-
K164N
T160F
D162T
D115H
G132V|V133-
K164G
V119*
E150I
G156G
T167fs
E157I
Y138W
K164R
Q149G
L140-
V158G
E150G
D116D
T167M
D153L
C124Y
R161W
A120F
I135V
D115*
Y138P
T131T
F145A
H141T
F145D
L112C
N117N
R172-
L140S
D153K
L146*
N117Y
D153T
K163F
R142K
V166A
A126F
E150H
H118W
L112*
H141-
I122Q
K144M
D116T
V119K
A126W
P169*
I135G
I168*
K128W
A120D
A137Q
N117R
R159S|T160-
L146V
V119W
D162M
T160Y
Y155Y
I135W
D162fs
R161I
G129H
T348fs
N117S
I122-
P169R|S170-
T160C
A121-
S113Y
G129W
F154T
I122E
E114D
R161*
V158A
A120C
L146I
C124*|K125-
A151V|L152-
F145fs
L112K
E157P
E157C
L146N
R172G
R172L
G165*
R142L
V158W
D162W
V119H
Q171E
D116M
P169C
L139*
M134*
S170R|Q171-
K147M
K164P
C136S|A137-
L140K
Q149W
R130T
R172V
R161S|D162-
A148D
K164S
G156C
K164Y
G143G
D162V
Q171F
D162G
S113D
I135A
I168I
M134F
G127G|K128-
E157G
N117*
R172F
P169W
Y138Q
G165I
V166S
R172C
V158T
A151A|L152-
R172M
Q171Q
T131*
R130I
D115A
V166fs
T160A
T160R
V133C
R161S
P169A
E150V
S170Y
S113S
D162*
G156T
E114-
A137A
L140W
T167Q
T167L
R159P
K125W
F56fs
Y174fs
G143V
A151*
R161L
A151L
Q171W
D115N
I122L
E157S
Y155G
L112F
A126L
R159I
K128K
D115I
K125A
R142N
K128A
R161E
L140M
A151A
G129E
A120L
A151V
A148G
A126A|G127-
G132E
A126Q
C136F
S170-
V158P
D116E
G165C
R130fs
L140*
Q149K
G165N
H118N
L112Q
G165S
S170E
T160W
K164H
G129*
A148L
T131W
L152S
K128L
A126-
D116A
K164V
R161Y
F145V
C124*
K125R
A121Y
F145F
C136S
S113W
I168L
K147H
H118G
R159W
H123D
D153-
F145L
L139V
T167C
G132D
A137N
K147D
G143M
Y155A
G132F
A137-
D116D|N117-
N117I
T167N
V133A
Y155H
C124E
H123H|C124-
I135*
A151S
S170W
D153*
A120S
L152G
N117T
I122R
R142W
A151Q
L152M
L146M
A126I
V166F
G132-
E157F
A151C
T167*
Q149Q|E150-
P169L
T131I
G129Y
V133V
C124C
R172I
V166K
H118T
L139M
K125Y
R161H
S170Q
L140T
Y155L
G127R
K163S
A126V
A121D
P169Q
E114A
R172*
E114P
T131C
C124T
A120E
V158Q
Y138G
A126A
G165K
A120M
C124I
D116P
Q149H
K144D
H141R
C136E
A121A
K125N
P169K
I135S
P169T
A151R
L140L
D116Q
K125M
K144E
V166Y
D153G
L112I
E157W
I122P
M134Q
D116H
C136-
A120fs
V166Q
S170F
C136K
H123K
L152E
M134L
L112S
C124M
H141fs
Q171*
I168-
M134R
F154W
F145*
D153N
K125K
V158S
Q171-
K163W
R130D
C136fs
R159A
I122N|H123-
D162H
A121H
I135M
Q149T
D162Q
A137L
Q171H
H118D
K125*
R172fs
E157V
A121C
T167W
K164fs
S170G
G132T
V133M
T160V
F154-
K163T
F154F
Q149Y
D115P
E150D|A151-
A137Y
E157N
I168E
R130L
H123Y
T131S|G132-
H123I
G156E|E157-
G127fs
V166-
Q171G
K164I
A137C
T160G
L152H|D153-
T167I|I168-
R130P
K125-
G127I
I168fs
L112L
R161A
A120T
R142F
A126C
R142M
C124R
F145P
D153M
L139Q
K125V
H118R
E150L
K144H
H118P
R172S
A126Y
G127P
G143I
K128R
E114Y
R159T|T160-
A137I
L146A
L140P
L152D
A148S
M134-
F145M
H123W
F154fs
I135P
G143L
D153P
N117K
Y155C
R159G
Q171P
E114K
L139F
Y155V
L146L|K147-
D162R
I122Y
H118*
H141H
L112A
T167G
R142E
K163Y
L140I
I168G
I122A
K144I|F145-
Y155Q
L152Q
R142R
C136G
R142H
C136I
K144I
V158E
L139Y
V133G
D153fs
T131Q
V133E
A151N
K128E
R161M
V133I
A120Y
K147*
D116F
T131M
K163V
D162A
M134V
L139A
G156D
S113T
G165L
T321fs
Y138R
C136*|A137-
V133H
C124F
D153C
V119D
Y155E
L146E
R161fs
V166D
R172N
G156M
G165V|V166-
Q149C
C136T
H118L
M134I
V133T
G129Q
G165Y
A151G
G127K
L112D
G165E
G132C
R142R|G143-
L139R
E114F
S170T
A148T
L140A
I168D
I122S
M134E
V158G|R159-
Y138A
C136Q
V166I
R172A
R161Q
A126*
G143D
E157T
A137D
R172K
R161T
D115C
Y155M
R161C
C136D
L152F
H123V
A151W
M134N
Y138L|L139-
A120G
G132P
L146Y
H118E
T167H
I122I|H123-
S113H
S170P
K128Q
F145H
R142*
V119N
C136N
C124L
H118-
H141S
P169E
R130S
V166V
T167A
T131P
A148Q
M134I|I135-
E150P
C136P
V119A
H141R|R142-
T167S
E150A
S170K
G156W
R159V
Q149-
L152K
L152A
H118I
H141N
Q171K
L152N
A121E
G165G
I135H
Y138E
C124P
R142V
G156-
A151M
T160M
T131H
G143Y
V166G
V158N
E150K
V119P
C124G
F154V
L146K
K128D
K125T|A126-
Q149N
L140R
R142fs
N117E
Y155P
S113P
D116R
L146W
Y155W
A151H
H141Q|R142-
L140D
Q171R|R172-
Y155I
A151P
F145C
T131Y
H61fs
V133W
A148fs
V158-
P169G
Y138*
R159fs
R142G
D116*
M134fs
S113fs
L140F
R159Q
T160P
L146fs
K147G
G129I
S170A
L112V
G127S
C136C
Y138*|L139-
L146F
H118V
D153Q
C124H
L139K
Y155W|G156-
A148K
F154Q
K147F
S170I
K163-
D116I
R130N
G156P
I168P
R159H
H118F
R172Y
A148N
K128R|G129-
G132Q
R130W
L139G
D162E|K163-
S170C
E114R
I168K
F154L
F154F|Y155-
A148I
R172E
K163*
L152I
F145L|L146-
P169V
R142A
L146L
D162F
P89fs
L112M
D115R
Q171S
K147R
V166W
T131fs
L140C
P169fs
A148F
Q171L
A120P
R142D
E150*
F154R
F145Y
H123L
Q171I
Y138C
N117M
G156G|E157-
R159N
A126S
T131R
V158I
A148W
F154*
D116L
Q149A
T131D
C136H
G129M
G132Y
L139D
D162C
H118Y
H123C
F154K
V119V
H141W
K144N|F145-
V133Y
R130C
G165F
G156V
G143H
C136*
L146T
D153A
M134A
K128F
K164T
Q171R
K163C
K125F
I122W
G165D
T160fs
F154P
N117A
G132A
P169P
K147K|A148-
E114V
K125fs
R172H
C136A
A137K
S113F
K147I
R130A
L146G
P169H
K147T|A148-
H123R|C124-
H141G
T160E
D116C
C136Y
G165A
R55fs
R161K
D153E
M134T
D153H
Y155S
H141D
F145T
R142Q
A137P
Y155fs
I122H
E114S
V166M
G143-
H123P
V119F
G156E
R130K
D115W
F154H
S113R
T160H
G132fs
H118M
E114L
F154C
K125C
Q171C
A148E
S170H
V133R
E114I
G132K
A126M
D115G
A137T
I135K
L139P
R161N|D162-
L139C
K128N
G132S
G132H
F154A
L152W
V133Q
R159S
G165V
R130-
A137D|Y138-
G165fs
T167F
R130H
D116W
C136M
D162E
I135I|C136-
L140E
V133D
I135Q
K144T
G127V
K125Q
G127A
I168T|P169-
K144Y
R130Y
K128M
H118fs
I122fs
V119-
G143fs
G127H
K164W
L146C
G127E
S113Q
Q149P
I168N
A148A
H123H
R142T
T160D
V133*
L265fs
V166*
G132V
T167K
D115S
T131-
K144F
G129V
F154G
R161R
K164K|G165-
N117P
I168V
M134C
A121R
R159R
T167-
G132I
F154I
I168R
A151fs
I122M
A126D
Y138S
K128G
D153V
G165-
R161F
A126G|G127-
R159T
A120V
L140G
A120R
A148M
T160Q
G127T
C124K
K125H
S113R|E114-
T160T|R161-
A137S
I122*
E114E
G156N
A121fs
L112N
G156I
G156A
L112fs
Q149V
C136R
K125L
K163K|K164-
V133S
G127W
L152L
I135Y
T160K
I122T
D162K
A126G
V166L
V166R
G127L
E157D
L112L|S113-
I168A
A137V
H123Q
S170V
T160R|R161-
A121G
D116Y
K128K|G129-
Q149D
G129G
L146P
V133P
Q171Y
H141P
P169Y
R161D
T167P
S170M
D153I
D115Y
G127C
F154Y
G143R
R142S
S170D
A151K
A126N
A126fs
A121*
V133V|M134-
G143C
Q149fs
H123R
D116G
G143A
D162D
Y155K
M134H
R130Q
E157A
E114Q
A137G
R159F
E114M
I168Q
V119Q
A137R
Y155R
E157H
A137E
E150fs
K147N
V166E
L140H
K125P
D162N
V166C
H123N
T131L
T131E
A120K
S170fs
D153D
R159Y
I168Y
K128T
A137H
E157E
Y155*|G156-
R172S|R173-
K147L
A151E
Y138H
V166P
H118H
Y138T
G165H
I122F
K144fs
L139fs
K164D
E150Q
V166A|T167-
P169F
L112Y
K144N
R142I
Q149S
D115D
H141C
Q149F
G143T
K128fs
Y138I
D162L
L152L|D153-
A121V
K163M
C124-
A137W
K144R
T167Y
R130F
H118Q
E150N
K6fs
L152H
T160I
V133fs
K144P
L139N
G129C
K125E
K144L
Y138L
D153F
K163A
K125N|A126-
F145Q
I135C
I122N
L140V
V133N
R159-
Q171D
K147Y
K147T
G129-
F145G
K144Q
R130R
F154E
V158fs
G165T
G143P
K144*
Y155T
I135D
F154D
K144-
F145S
C124D
L152*
G156*
H123E
L140fs
C136V
L139T
E150D
G127M
G127E|K128-
F154S
L146Q
A148*
I122K
V119A|A120-
A137F
T167I
K164L
N117F
G156Y
K164M
S113I
K164F
H123G
A120W
V158H
R234fs
S113K|E114-
Y138N
K164A
K164*
A120I
K128P
D162P
A148Y
L139W
V133L
A121F
D116V
D115Q
R130M
V158V
V119T
Q149Q
R159D
D115D|D116-
Y155F
P169R
L152fs
A121S
R159M
G143*
K147S
S113N
E157K
V119L
I168W
R161P
H141I
I168H
T131G
G129K
I135N
L146S
I122I
K144V
T131S
M134W
G156L
I168C
I135F
D162I
Q171T
A137A|Y138-
H118K
G156H
E150F
H141Q
V158M
R159L
R161N
Q171fs
L152P
A148P
Q171M
I135fs
R172R
E114D|D115-
K164E
P169S
D115F
K144C
D115M
G132R
K144W
H123T
V119R
T167E
T131F
K163K
R130E
M134S
A121I
K147C
L139E
G143F
V119S
E157fs
L146R
V158D
K163E
G156R
H141F
F145-
L139H
L139I
F154M
V158Y
K125G
G156fs
D116N
D153W
D115L
A148R
R173fs
I135R
D116K
E157L
G165Q
P169P|S170-
K147fs
V119I
I135E
A151D
G132N
E114C
Q171N
I168F
D162S
G129L
H141E
E150Y
L152R
L146D
K128C
A121K
D115E
E114G
T160N
Q149M
S170N
C124V
I168T
Q149I
V158F
H141A
K128V
H141K
P169I
Y138M
K128S
K147Q
C136W
K125D
D162-
Q149L
K128I
S170K|Q171-
E157V|V158-
Y138V
I122C
D153Y
S170*
G127D
G165R
E288fs
L152Y
E114H
K128-
L140Q
W111fs
G129F
A120N
A121T
K144S
G143G|K144-
F145E
A120Q
L112R
G143N
K144K
C124A
E157M
G129P
H123M
C124S
F154Y|Y155-
K147W
A121W
P169-
K164N
T160F
D162T
D115H
G132V|V133-
K164G
V119*
E150I
G156G
T167fs
E157I
Y138W
K164R
Q149G
L140-
V158G
E150G
D116D
T167M
D153L
C124Y
R161W
A120F
I135V
D115*
Y138P
T131T
F145A
H141T
F145D
L112C
N117N
R172-
L140S
D153K
L146*
N117Y
D153T
K163F
R142K
V166A
A126F
E150H
H118W
L112*
H141-
I122Q
K144M
D116T
V119K
A126W
P169*
I135G
I168*
K128W
A120D
A137Q
N117R
R159S|T160-
L146V
V119W
D162M
T160Y
Y155Y
I135W
D162fs
R161I
G129H
T348fs
N117S
I122-
P169R|S170-
T160C
A121-
S113Y
G129W
F154T
I122E
E114D
R161*
V158A
A120C
L146I
C124*|K125-
A151V|L152-
F145fs
L112K
E157P
E157C
L146N
R172G
R172L
G165*
R142L
V158W
D162W
V119H
Q171E
D116M
P169C
L139*
M134*
S170R|Q171-
K147M
K164P
C136S|A137-
L140K
Q149W
R130T
R172V
R161S|D162-
A148D
K164S
G156C
K164Y
G143G
D162V
Q171F
D162G
S113D
I135A
I168I
M134F
G127G|K128-
E157G
N117*
R172F
P169W
Y138Q
G165I
V166S
R172C
V158T
A151A|L152-
R172M
Q171Q
T131*
R130I
D115A
V166fs
T160A
T160R
V133C
R161S
P169A
E150V
S170Y
S113S
D162*
G156T
E114-
A137A
L140W
T167Q
T167L
R159P
K125W
F56fs
Y174fs
G143V
A151*
R161L
A151L
Q171W
D115N
I122L
E157S
Y155G
L112F
A126L
R159I
K128K
D115I
K125A
R142N
K128A
R161E
L140M
A151A
G129E
A120L
A151V
A148G
A126A|G127-
G132E
A126Q
C136F
S170-
V158P
D116E
G165C
R130fs
L140*
Q149K
G165N
H118N
L112Q
G165S
S170E
T160W
K164H
G129*
A148L
T131W
L152S
K128L
A126-
D116A
K164V
R161Y
F145V
C124*
K125R
A121Y
F145F
C136S
S113W
I168L
K147H
H118G
R159W
H123D
D153-
F145L
L139V
T167C
G132D
A137N
K147D
G143M
Y155A
G132F
A137-
D116D|N117-
N117I
T167N
V133A
Y155H
C124E
H123H|C124-
I135*
A151S
S170W
D153*
A120S
L152G
N117T
I122R
R142W
A151Q
L152M
L146M
A126I
V166F
G132-
E157F
A151C
T167*
Q149Q|E150-
P169L
T131I
G129Y
V133V
C124C
R172I
V166K
H118T
L139M
K125Y
R161H
S170Q
L140T
Y155L
G127R
K163S
A126V
A121D
P169Q
E114A
R172*
E114P
T131C
C124T
A120E
V158Q
Y138G
A126A
G165K
A120M
C124I
D116P
Q149H
K144D
H141R
C136E
A121A
K125N
P169K
I135S
P169T
A151R
L140L
D116Q
K125M
K144E
V166Y
D153G
L112I
E157W
I122P
M134Q
D116H
C136-
A120fs
V166Q
S170F
C136K
H123K
L152E
M134L
L112S
C124M
H141fs
Q171*
I168-
M134R
F154W
F145*
D153N
K125K
V158S
Q171-
K163W
R130D
C136fs
R159A
I122N|H123-
D162H
A121H
I135M
Q149T
D162Q
A137L
Q171H
H118D
K125*
R172fs
E157V
A121C
T167W
K164fs
S170G
G132T
V133M
T160V
F154-
K163T
F154F
Q149Y
D115P
E150D|A151-
A137Y
E157N
I168E
R130L
H123Y
T131S|G132-
H123I
G156E|E157-
G127fs
V166-
Q171G
K164I
A137C
T160G
L152H|D153-
T167I|I168-
R130P
K125-
G127I
I168fs
L112L
R161A
A120T
R142F
A126C
R142M
C124R
F145P
D153M
L139Q
K125V
H118R
E150L
K144H
H118P
R172S
A126Y
G127P
G143I
K128R
E114Y
R159T|T160-
A137I
L146A
L140P
L152D
A148S
M134-
F145M
H123W
F154fs
I135P
G143L
D153P
N117K
Y155C
R159G
Q171P
E114K
L139F
Y155V
L146L|K147-
D162R
I122Y
H118*
H141H
L112A
T167G
R142E
K163Y
L140I
I168G
I122A
K144I|F145-
Y155Q
L152Q
R142R
C136G
R142H
C136I
K144I
V158E
L139Y
V133G
D153fs
T131Q
V133E
A151N
K128E
R161M
V133I
A120Y
K147*
D116F
T131M
K163V
D162A
M134V
L139A
G156D
S113T
G165L
T321fs
Y138R
C136*|A137-
V133H
C124F
D153C
V119D
Y155E
L146E
R161fs
V166D
R172N
G156M
G165V|V166-
Q149C
C136T
H118L
M134I
V133T
G129Q
G165Y
A151G
G127K
L112D
G165E
G132C
R142R|G143-
L139R
E114F
S170T
A148T
L140A
I168D
I122S
M134E
V158G|R159-
Y138A
C136Q
V166I
R172A
R161Q
A126*
G143D
E157T
A137D
R172K
R161T
D115C
Y155M
R161C
C136D
L152F
H123V
A151W
M134N
Y138L|L139-
A120G
G132P
L146Y
H118E
T167H
I122I|H123-
S113H
S170P
K128Q
F145H
R142*
V119N
C136N
C124L
H118-
H141S
P169E
R130S
V166V
T167A
T131P
A148Q
M134I|I135-
E150P
C136P
V119A
H141R|R142-
T167S
E150A
S170K
G156W
R159V
Q149-
L152K
L152A
H118I
H141N
Q171K
L152N
A121E
G165G
I135H
Y138E
C124P
R142V
G156-
A151M
T160M
T131H
G143Y
V166G
V158N
E150K
V119P
C124G
F154V
L146K
K128D
K125T|A126-
Q149N
L140R
R142fs
N117E
Y155P
S113P
D116R
L146W
Y155W
A151H
H141Q|R142-
L140D
Q171R|R172-
Y155I
A151P
F145C
T131Y
H61fs
V133W
A148fs
V158-
P169G
Y138*
R159fs
R142G
D116*
M134fs
S113fs
L140F
R159Q
T160P
L146fs
K147G
G129I
S170A
L112V
G127S
C136C
Y138*|L139-
L146F
H118V
D153Q
C124H
L139K
Y155W|G156-
A148K
F154Q
K147F
S170I
K163-
D116I
R130N
G156P
I168P
R159H
H118F
R172Y
A148N
K128R|G129-
G132Q
R130W
L139G
D162E|K163-
S170C
E114R
I168K
F154L
F154F|Y155-
A148I
R172E
K163*
L152I
F145L|L146-
P169V
R142A
L146L
D162F
P89fs
L112M
D115R
Q171S
K147R
V166W
T131fs
L140C
P169fs
A148F
Q171L
A120P
R142D
E150*
F154R
F145Y
H123L
Q171I
Y138C
N117M
G156G|E157-
R159N
A126S
T131R
V158I
A148W
F154*
D116L
Q149A
T131D
C136H
G129M
G132Y
L139D
D162C
H118Y
H123C
F154K
V119V
H141W
K144N|F145-
V133Y
R130C
G165F
G156V
G143H
C136*
L146T
D153A
M134A
K128F
K164T
Q171R
K163C
K125F
I122W
G165D
T160fs
F154P
N117A
G132A
P169P
K147K|A148-
E114V
K125fs
R172H
C136A
A137K
S113F
K147I
R130A
L146G
P169H
K147T|A148-
H123R|C124-
H141G
T160E
D116C
C136Y
G165A
R55fs
R161K
D153E
M134T
D153H
Y155S
H141D
F145T
R142Q
A137P
Y155fs
I122H
E114S
V166M
G143-
H123P
V119F
G156E
R130K
D115W
F154H
S113R
T160H
G132fs
H118M
E114L
F154C
K125C
Q171C
A148E
S170H
V133R
E114I
G132K
A126M
D115G
A137T
I135K
L139P
R161N|D162-
L139C
K128N
G132S
G132H
F154A
L152W
V133Q
R159S
G165V
R130-
A137D|Y138-
G165fs
T167F
R130H
D116W
C136M
D162E
I135I|C136-
L140E
V133D
I135Q
K144T
G127V
K125Q
G127A
I168T|P169-
K144Y
R130Y
K128M
H118fs
I122fs
V119-
G143fs
G127H
K164W
L146C
G127E
S113Q
Q149P
I168N
A148A
H123H
R142T
T160D
V133*
L265fs
V166*
G132V
T167K
D115S
T131-
K144F
G129V
F154G
R161R
K164K|G165-
N117P
I168V
M134C
A121R
R159R
T167-
G132I
F154I
I168R
A151fs
I122M
A126D
Y138S
K128G
D153V
G165-
R161F
A126G|G127-
R159T
A120V
L140G
A120R
A148M
T160Q
G127T
C124K
K125H
S113R|E114-
T160T|R161-
A137S
I122*
E114E
G156N
A121fs
L112N
G156I
G156A
L112fs
Q149V
C136R
K125L
K163K|K164-
V133S
G127W
L152L
I135Y
T160K
I122T
D162K
A126G
V166L
V166R
G127L
E157D
L112L|S113-
I168A
A137V
H123Q
S170V
T160R|R161-
A121G
D116Y
K128K|G129-
Q149D
G129G
L146P
V133P
Q171Y
H141P
P169Y
R161D
T167P
S170M
D153I
D115Y
G127C
F154Y
G143R
R142S
S170D
A151K
A126N
A126fs
A121*
V133V|M134-
G143C
Q149fs
H123R
D116G
G143A
D162D
Y155K
M134H
R130Q
E157A
E114Q
A137G
R159F
E114M
I168Q
V119Q
A137R
Y155R
E157H
A137E
E150fs
K147N
V166E
L140H
K125P
D162N
V166C
H123N
T131L
T131E
A120K
S170fs
D153D
R159Y
I168Y
K128T
A137H
E157E
Y155*|G156-
R172S|R173-
K147L
A151E
Y138H
V166P
H118H
Y138T
G165H
I122F
K144fs
L139fs
K164D
E150Q
V166A|T167-
P169F
L112Y
K144N
R142I
Q149S
D115D
H141C
Q149F
G143T
K128fs
Y138I
D162L
L152L|D153-
A121V
K163M
C124-
A137W
K144R
T167Y
R130F
H118Q
E150N
K6fs
L152H
T160I
V133fs
K144P
L139N
G129C
K125E
K144L
Y138L
D153F
K163A
K125N|A126-
F145Q
I135C
I122N
L140V
V133N
R159-
Q171D
K147Y
K147T
G129-
F145G
K144Q
R130R
F154E
V158fs
G165T
G143P
K144*
Y155T
I135D
F154D
K144-
F145S
C124D
L152*
G156*
H123E
L140fs
C136V
L139T
E150D
G127M
G127E|K128-
F154S
L146Q
A148*
I122K
V119A|A120-
A137F
T167I
K164L
N117F
G156Y
K164M
S113I
K164F
H123G
A120W
V158H
R234fs
S113K|E114-
Y138N
K164A
K164*
A120I
K128P
D162P
A148Y
L139W
V133L
A121F
D116V
D115Q
R130M
V158V
V119T
Q149Q
R159D
D115D|D116-
Y155F
P169R
L152fs
A121S
R159M
G143*
K147S
S113N
E157K
V119L
I168W
R161P
H141I
I168H
T131G
G129K
I135N
L146S
I122I
K144V
T131S
M134W
G156L
I168C
I135F
D162I
Q171T
A137A|Y138-
H118K
G156H
E150F
H141Q
V158M
R159L
R161N
Q171fs
L152P
A148P
Q171M
I135fs
R172R
E114D|D115-
K164E
P169S
D115F
K144C
-9
-6
-3
0
3
6
9
D115M
G132R
K144W
H123T
V119R
T167E
T131F
K163K
R130E
M134S
A121I
K147C
L139E
G143F
V119S
E157fs
L146R
V158D
K163E
G156R
H141F
F145-
L139H
L139I
F154M
V158Y
K125G
G156fs
D116N
D153W
D115L
A148R
R173fs
I135R
D116K
E157L
G165Q
P169P|S170-
K147fs
V119I
I135E
A151D
G132N
E114C
Q171N
I168F
D162S
G129L
H141E
E150Y
L152R
L146D
K128C
A121K
D115E
E114G
T160N
Q149M
S170N
C124V
I168T
Q149I
V158F
H141A
K128V
H141K
P169I
Y138M
K128S
K147Q
C136W
K125D
D162-
Q149L
K128I
S170K|Q171-
E157V|V158-
Y138V
I122C
D153Y
S170*
G127D
G165R
E288fs
L152Y
E114H
K128-
L140Q
W111fs
G129F
A120N
A121T
K144S
G143G|K144-
F145E
A120Q
L112R
G143N
K144K
C124A
E157M
G129P
H123M
C124S
F154Y|Y155-
K147W
A121W
P169-
K164N
T160F
D162T
D115H
G132V|V133-
K164G
V119*
E150I
G156G
T167fs
E157I
Y138W
K164R
Q149G
L140-
V158G
E150G
D116D
T167M
D153L
C124Y
R161W
A120F
I135V
D115*
Y138P
T131T
F145A
H141T
F145D
L112C
N117N
R172-
L140S
D153K
L146*
N117Y
D153T
K163F
R142K
V166A
A126F
E150H
H118W
L112*
H141-
I122Q
K144M
D116T
V119K
A126W
P169*
I135G
I168*
K128W
A120D
A137Q
N117R
R159S|T160-
L146V
V119W
D162M
T160Y
Y155Y
I135W
D162fs
R161I
G129H
T348fs
N117S
I122-
P169R|S170-
T160C
A121-
S113Y
G129W
F154T
I122E
E114D
R161*
V158A
A120C
L146I
C124*|K125-
A151V|L152-
F145fs
L112K
E157P
E157C
L146N
R172G
R172L
G165*
R142L
V158W
D162W
V119H
Q171E
D116M
P169C
L139*
M134*
S170R|Q171-
K147M
K164P
C136S|A137-
L140K
Q149W
R130T
R172V
R161S|D162-
A148D
K164S
G156C
K164Y
G143G
D162V
Q171F
D162G
S113D
I135A
I168I
M134F
G127G|K128-
E157G
N117*
R172F
P169W
Y138Q
G165I
V166S
R172C
V158T
A151A|L152-
R172M
Q171Q
T131*
R130I
D115A
V166fs
T160A
T160R
V133C
R161S
P169A
E150V
S170Y
S113S
D162*
G156T
E114-
A137A
L140W
T167Q
T167L
R159P
K125W
F56fs
Y174fs
G143V
A151*
R161L
A151L
Q171W
D115N
I122L
E157S
Y155G
L112F
A126L
R159I
K128K
D115I
K125A
R142N
K128A
R161E
L140M
A151A
G129E
A120L
A151V
A148G
A126A|G127-
G132E
A126Q
C136F
S170-
V158P
D116E
G165C
R130fs
L140*
Q149K
G165N
H118N
L112Q
G165S
S170E
T160W
K164H
G129*
A148L
T131W
L152S
K128L
A126-
D116A
K164V
R161Y
F145V
C124*
K125R
A121Y
F145F
C136S
S113W
I168L
K147H
H118G
R159W
H123D
D153-
F145L
L139V
T167C
G132D
A137N
K147D
G143M
Y155A
G132F
A137-
D116D|N117-
N117I
T167N
V133A
Y155H
C124E
H123H|C124-
I135*
A151S
S170W
D153*
A120S
L152G
N117T
I122R
R142W
A151Q
L152M
L146M
A126I
V166F
G132-
E157F
A151C
T167*
Q149Q|E150-
P169L
T131I
G129Y
V133V
C124C
R172I
V166K
H118T
L139M
K125Y
R161H
S170Q
L140T
Y155L
G127R
K163S
A126V
A121D
P169Q
E114A
R172*
E114P
T131C
C124T
A120E
V158Q
Y138G
A126A
G165K
A120M
C124I
D116P
Q149H
K144D
H141R
C136E
A121A
K125N
P169K
I135S
P169T
A151R
L140L
D116Q
K125M
K144E
V166Y
D153G
L112I
E157W
I122P
M134Q
D116H
C136-
A120fs
V166Q
S170F
C136K
H123K
L152E
M134L
L112S
C124M
H141fs
Q171*
I168-
M134R
F154W
F145*
D153N
K125K
V158S
Q171-
K163W
R130D
C136fs
R159A
I122N|H123-
D162H
A121H
I135M
Q149T
D162Q
A137L
Q171H
H118D
K125*
R172fs
E157V
A121C
T167W
K164fs
S170G
G132T
V133M
T160V
F154-
K163T
F154F
Q149Y
D115P
E150D|A151-
A137Y
E157N
I168E
R130L
H123Y
T131S|G132-
H123I
G156E|E157-
G127fs
V166-
Q171G
K164I
A137C
T160G
L152H|D153-
T167I|I168-
R130P
K125-
G127I
I168fs
L112L
R161A
A120T
R142F
A126C
R142M
C124R
F145P
D153M
L139Q
K125V
H118R
E150L
K144H
H118P
R172S
A126Y
G127P
G143I
K128R
E114Y
R159T|T160-
A137I
L146A
L140P
L152D
A148S
M134-
F145M
H123W
F154fs
I135P
G143L
D153P
N117K
Y155C
R159G
Q171P
E114K
L139F
Y155V
L146L|K147-
D162R
I122Y
H118*
H141H
L112A
T167G
R142E
K163Y
L140I
I168G
I122A
K144I|F145-
Y155Q
L152Q
R142R
C136G
R142H
C136I
K144I
V158E
L139Y
V133G
D153fs
T131Q
V133E
A151N
K128E
R161M
V133I
A120Y
K147*
D116F
T131M
K163V
D162A
M134V
L139A
G156D
S113T
G165L
T321fs
Y138R
C136*|A137-
V133H
C124F
D153C
V119D
Y155E
L146E
R161fs
V166D
R172N
G156M
G165V|V166-
Q149C
C136T
H118L
M134I
V133T
G129Q
G165Y
A151G
G127K
L112D
G165E
G132C
R142R|G143-
L139R
E114F
S170T
A148T
L140A
I168D
I122S
M134E
V158G|R159-
Y138A
C136Q
V166I
R172A
R161Q
A126*
G143D
E157T
A137D
R172K
R161T
D115C
Y155M
R161C
C136D
L152F
H123V
A151W
M134N
Y138L|L139-
A120G
G132P
L146Y
H118E
T167H
I122I|H123-
S113H
S170P
K128Q
F145H
R142*
V119N
C136N
C124L
H118-
H141S
P169E
R130S
V166V
T167A
T131P
A148Q
M134I|I135-
E150P
C136P
V119A
H141R|R142-
T167S
E150A
S170K
G156W
R159V
Q149-
L152K
L152A
H118I
H141N
Q171K
L152N
A121E
G165G
I135H
Y138E
C124P
R142V
G156-
A151M
T160M
T131H
G143Y
V166G
V158N
E150K
V119P
C124G
F154V
L146K
K128D
K125T|A126-
Q149N
L140R
R142fs
N117E
Y155P
S113P
D116R
L146W
Y155W
A151H
H141Q|R142-
L140D
Q171R|R172-
Y155I
A151P
F145C
T131Y
H61fs
V133W
A148fs
V158-
P169G
Y138*
R159fs
R142G
D116*
M134fs
S113fs
L140F
R159Q
T160P
L146fs
K147G
G129I
S170A
L112V
G127S
C136C
Y138*|L139-
L146F
H118V
D153Q
C124H
L139K
Y155W|G156-
A148K
F154Q
K147F
S170I
K163-
D116I
R130N
G156P
I168P
R159H
H118F
R172Y
A148N
K128R|G129-
G132Q
R130W
L139G
D162E|K163-
S170C
E114R
I168K
F154L
F154F|Y155-
A148I
R172E
K163*
L152I
F145L|L146-
P169V
R142A
L146L
D162F
P89fs
L112M
D115R
Q171S
K147R
V166W
T131fs
L140C
P169fs
A148F
Q171L
A120P
R142D
E150*
F154R
F145Y
H123L
Q171I
Y138C
N117M
G156G|E157-
R159N
A126S
T131R
V158I
A148W
F154*
D116L
Q149A
T131D
C136H
G129M
G132Y
L139D
D162C
H118Y
H123C
F154K
V119V
H141W
K144N|F145-
V133Y
R130C
G165F
G156V
G143H
C136*
L146T
D153A
M134A
K128F
K164T
Q171R
K163C
K125F
I122W
G165D
T160fs
F154P
N117A
G132A
P169P
K147K|A148-
E114V
K125fs
R172H
C136A
A137K
S113F
K147I
R130A
L146G
P169H
K147T|A148-
H123R|C124-
H141G
T160E
D116C
C136Y
G165A
R55fs
R161K
D153E
M134T
D153H
Y155S
H141D
F145T
R142Q
A137P
Y155fs
I122H
E114S
V166M
G143-
H123P
V119F
G156E
R130K
D115W
F154H
S113R
T160H
G132fs
H118M
E114L
F154C
K125C
Q171C
A148E
S170H
V133R
E114I
G132K
A126M
D115G
A137T
I135K
L139P
R161N|D162-
L139C
K128N
G132S
G132H
F154A
L152W
V133Q
R159S
G165V
R130-
A137D|Y138-
G165fs
T167F
R130H
D116W
C136M
D162E
I135I|C136-
L140E
V133D
I135Q
K144T
G127V
K125Q
G127A
I168T|P169-
K144Y
R130Y
K128M
H118fs
I122fs
V119-
G143fs
G127H
K164W
L146C
G127E
S113Q
Q149P
I168N
A148A
H123H
R142T
T160D
V133*
L265fs
V166*
G132V
T167K
D115S
T131-
K144F
G129V
F154G
R161R
K164K|G165-
N117P
I168V
M134C
A121R
R159R
T167-
G132I
F154I
I168R
A151fs
I122M
A126D
Y138S
K128G
D153V
G165-
R161F
A126G|G127-
R159T
A120V
L140G
A120R
A148M
T160Q
G127T
C124K
K125H
S113R|E114-
T160T|R161-
A137S
I122*
E114E
G156N
A121fs
L112N
G156I
G156A
L112fs
Q149V
C136R
K125L
K163K|K164-
V133S
G127W
L152L
I135Y
T160K
I122T
D162K
A126G
V166L
V166R
G127L
E157D
L112L|S113-
I168A
A137V
H123Q
S170V
T160R|R161-
A121G
D116Y
K128K|G129-
Q149D
G129G
L146P
V133P
Q171Y
H141P
P169Y
R161D
T167P
S170M
D153I
D115Y
G127C
F154Y
G143R
R142S
S170D
A151K
A126N
A126fs
A121*
V133V|M134-
G143C
Q149fs
H123R
D116G
G143A
D162D
Y155K
M134H
R130Q
E157A
E114Q
A137G
R159F
E114M
I168Q
V119Q
A137R
Y155R
E157H
A137E
E150fs
K147N
V166E
L140H
K125P
D162N
V166C
H123N
T131L
T131E
A120K
S170fs
D153D
R159Y
I168Y
K128T
A137H
E157E
Y155*|G156-
R172S|R173-
K147L
A151E
Y138H
V166P
H118H
Y138T
G165H
I122F
K144fs
L139fs
K164D
E150Q
V166A|T167-
P169F
L112Y
K144N
R142I
Q149S
D115D
H141C
Q149F
G143T
K128fs
Y138I
D162L
L152L|D153-
A121V
K163M
C124-
A137W
K144R
T167Y
R130F
H118Q
E150N
K6fs
L152H
T160I
V133fs
K144P
L139N
G129C
K125E
K144L
Y138L
D153F
K163A
K125N|A126-
F145Q
I135C
I122N
L140V
V133N
R159-
Q171D
K147Y
K147T
G129-
F145G
K144Q
R130R
F154E
V158fs
G165T
G143P
K144*
Y155T
I135D
F154D
K144-
F145S
C124D
L152*
G156*
H123E
L140fs
C136V
L139T
E150D
G127M
G127E|K128-
F154S
L146Q
A148*
I122K
V119A|A120-
A137F
T167I
K164L
N117F
G156Y
K164M
S113I
K164F
H123G
A120W
V158H
R234fs
S113K|E114-
Y138N
K164A
K164*
A120I
K128P
D162P
A148Y
L139W
V133L
A121F
D116V
D115Q
R130M
V158V
V119T
Q149Q
R159D
D115D|D116-
Y155F
P169R
L152fs
A121S
R159M
G143*
K147S
S113N
E157K
V119L
I168W
R161P
H141I
I168H
T131G
G129K
I135N
L146S
I122I
K144V
T131S
M134W
G156L
I168C
I135F
D162I
Q171T
A137A|Y138-
H118K
G156H
E150F
H141Q
V158M
R159L
R161N
Q171fs
L152P
A148P
Q171M
I135fs
R172R
E114D|D115-
K164E
P169S
D115F
K144C
-9
-6
-3
0
3
6
9
D115M
G132R
K144W
H123T
V119R
T167E
T131F
K163K
R130E
M134S
A121I
K147C
L139E
G143F
V119S
E157fs
L146R
V158D
K163E
G156R
H141F
F145-
L139H
L139I
F154M
V158Y
K125G
G156fs
D116N
D153W
D115L
A148R
R173fs
I135R
D116K
E157L
G165Q
P169P|S170-
K147fs
V119I
I135E
A151D
G132N
E114C
Q171N
I168F
D162S
G129L
H141E
E150Y
L152R
L146D
K128C
A121K
D115E
E114G
T160N
Q149M
S170N
C124V
I168T
Q149I
V158F
H141A
K128V
H141K
P169I
Y138M
K128S
K147Q
C136W
K125D
D162-
Q149L
K128I
S170K|Q171-
E157V|V158-
Y138V
I122C
D153Y
S170*
G127D
G165R
E288fs
L152Y
E114H
K128-
L140Q
W111fs
G129F
A120N
A121T
K144S
G143G|K144-
F145E
A120Q
L112R
G143N
K144K
C124A
E157M
G129P
H123M
C124S
F154Y|Y155-
K147W
A121W
P169-
K164N
T160F
D162T
D115H
G132V|V133-
K164G
V119*
E150I
G156G
T167fs
E157I
Y138W
K164R
Q149G
L140-
V158G
E150G
D116D
T167M
D153L
C124Y
R161W
A120F
I135V
D115*
Y138P
T131T
F145A
H141T
F145D
L112C
N117N
R172-
L140S
D153K
L146*
N117Y
D153T
K163F
R142K
V166A
A126F
E150H
H118W
L112*
H141-
I122Q
K144M
D116T
V119K
A126W
P169*
I135G
I168*
K128W
A120D
A137Q
N117R
R159S|T160-
L146V
V119W
D162M
T160Y
Y155Y
I135W
D162fs
R161I
G129H
T348fs
N117S
I122-
P169R|S170-
T160C
A121-
S113Y
G129W
F154T
I122E
E114D
R161*
V158A
A120C
L146I
C124*|K125-
A151V|L152-
F145fs
L112K
E157P
E157C
L146N
R172G
R172L
G165*
R142L
V158W
D162W
V119H
Q171E
D116M
P169C
L139*
M134*
S170R|Q171-
K147M
K164P
C136S|A137-
L140K
Q149W
R130T
R172V
R161S|D162-
A148D
K164S
G156C
K164Y
G143G
D162V
Q171F
D162G
S113D
I135A
I168I
M134F
G127G|K128-
E157G
N117*
R172F
P169W
Y138Q
G165I
V166S
R172C
V158T
A151A|L152-
R172M
Q171Q
T131*
R130I
D115A
V166fs
T160A
T160R
V133C
R161S
P169A
E150V
S170Y
S113S
D162*
G156T
E114-
A137A
L140W
T167Q
T167L
R159P
K125W
F56fs
Y174fs
G143V
A151*
R161L
A151L
Q171W
D115N
I122L
E157S
Y155G
L112F
A126L
R159I
K128K
D115I
K125A
R142N
K128A
R161E
L140M
A151A
G129E
A120L
A151V
A148G
A126A|G127-
G132E
A126Q
C136F
S170-
V158P
D116E
G165C
R130fs
L140*
Q149K
G165N
H118N
L112Q
G165S
S170E
T160W
K164H
G129*
A148L
T131W
L152S
K128L
A126-
D116A
K164V
R161Y
F145V
C124*
K125R
A121Y
F145F
C136S
S113W
I168L
K147H
H118G
R159W
H123D
D153-
F145L
L139V
T167C
G132D
A137N
K147D
G143M
Y155A
G132F
A137-
D116D|N117-
N117I
T167N
V133A
Y155H
C124E
H123H|C124-
I135*
A151S
S170W
D153*
A120S
L152G
N117T
I122R
R142W
A151Q
L152M
L146M
A126I
V166F
G132-
E157F
A151C
T167*
Q149Q|E150-
P169L
T131I
G129Y
V133V
C124C
R172I
V166K
H118T
L139M
K125Y
R161H
S170Q
L140T
Y155L
G127R
K163S
A126V
A121D
P169Q
E114A
R172*
E114P
T131C
C124T
A120E
V158Q
Y138G
A126A
G165K
A120M
C124I
D116P
Q149H
K144D
H141R
C136E
A121A
K125N
P169K
I135S
P169T
A151R
L140L
D116Q
K125M
K144E
V166Y
D153G
L112I
E157W
I122P
M134Q
D116H
C136-
A120fs
V166Q
S170F
C136K
H123K
L152E
M134L
L112S
C124M
H141fs
Q171*
I168-
M134R
F154W
F145*
D153N
K125K
V158S
Q171-
K163W
R130D
C136fs
R159A
I122N|H123-
D162H
A121H
I135M
Q149T
D162Q
A137L
Q171H
H118D
K125*
R172fs
E157V
A121C
T167W
K164fs
S170G
G132T
V133M
T160V
F154-
K163T
F154F
Q149Y
D115P
E150D|A151-
A137Y
E157N
I168E
R130L
H123Y
T131S|G132-
H123I
G156E|E157-
G127fs
V166-
Q171G
K164I
A137C
T160G
L152H|D153-
T167I|I168-
R130P
K125-
G127I
I168fs
L112L
R161A
A120T
R142F
A126C
R142M
C124R
F145P
D153M
L139Q
K125V
H118R
E150L
K144H
H118P
R172S
A126Y
G127P
G143I
K128R
E114Y
R159T|T160-
A137I
L146A
L140P
L152D
A148S
M134-
F145M
H123W
F154fs
I135P
G143L
D153P
N117K
Y155C
R159G
Q171P
E114K
L139F
Y155V
L146L|K147-
D162R
I122Y
H118*
H141H
L112A
T167G
R142E
K163Y
L140I
I168G
I122A
K144I|F145-
Y155Q
L152Q
R142R
C136G
R142H
C136I
K144I
V158E
L139Y
V133G
D153fs
T131Q
V133E
A151N
K128E
R161M
V133I
A120Y
K147*
D116F
T131M
K163V
D162A
M134V
L139A
G156D
S113T
G165L
T321fs
Y138R
C136*|A137-
V133H
C124F
D153C
V119D
Y155E
L146E
R161fs
V166D
R172N
G156M
G165V|V166-
Q149C
C136T
H118L
M134I
V133T
G129Q
G165Y
A151G
G127K
L112D
G165E
G132C
R142R|G143-
L139R
E114F
S170T
A148T
L140A
I168D
I122S
M134E
V158G|R159-
Y138A
C136Q
V166I
R172A
R161Q
A126*
G143D
E157T
A137D
R172K
R161T
D115C
Y155M
R161C
C136D
L152F
H123V
A151W
M134N
Y138L|L139-
A120G
G132P
L146Y
H118E
T167H
I122I|H123-
S113H
S170P
K128Q
F145H
R142*
V119N
C136N
C124L
H118-
H141S
P169E
R130S
V166V
T167A
T131P
A148Q
M134I|I135-
E150P
C136P
V119A
H141R|R142-
T167S
E150A
S170K
G156W
R159V
Q149-
L152K
L152A
H118I
H141N
Q171K
L152N
A121E
G165G
I135H
Y138E
C124P
R142V
G156-
A151M
T160M
T131H
G143Y
V166G
V158N
E150K
V119P
C124G
F154V
L146K
K128D
K125T|A126-
Q149N
L140R
R142fs
N117E
Y155P
S113P
D116R
L146W
Y155W
A151H
H141Q|R142-
L140D
Q171R|R172-
Y155I
A151P
F145C
T131Y
H61fs
V133W
A148fs
V158-
P169G
Y138*
R159fs
R142G
D116*
M134fs
S113fs
L140F
R159Q
T160P
L146fs
K147G
G129I
S170A
L112V
G127S
C136C
Y138*|L139-
L146F
H118V
D153Q
C124H
L139K
Y155W|G156-
A148K
F154Q
K147F
S170I
K163-
D116I
R130N
G156P
I168P
R159H
H118F
R172Y
A148N
K128R|G129-
G132Q
R130W
L139G
D162E|K163-
S170C
E114R
I168K
F154L
F154F|Y155-
A148I
R172E
K163*
L152I
F145L|L146-
P169V
R142A
L146L
D162F
P89fs
L112M
D115R
Q171S
K147R
V166W
T131fs
L140C
P169fs
A148F
Q171L
A120P
R142D
E150*
F154R
F145Y
H123L
Q171I
Y138C
N117M
G156G|E157-
R159N
A126S
T131R
V158I
A148W
F154*
D116L
Q149A
T131D
C136H
G129M
G132Y
L139D
D162C
H118Y
H123C
F154K
V119V
H141W
K144N|F145-
V133Y
R130C
G165F
G156V
G143H
C136*
L146T
D153A
M134A
K128F
K164T
Q171R
K163C
K125F
I122W
G165D
T160fs
F154P
N117A
G132A
P169P
K147K|A148-
E114V
K125fs
R172H
C136A
A137K
S113F
K147I
R130A
L146G
P169H
K147T|A148-
H123R|C124-
H141G
T160E
D116C
C136Y
G165A
R55fs
R161K
D153E
M134T
D153H
Y155S
H141D
F145T
R142Q
A137P
Y155fs
I122H
E114S
V166M
G143-
H123P
V119F
G156E
R130K
D115W
F154H
S113R
T160H
G132fs
H118M
E114L
F154C
K125C
Q171C
A148E
S170H
V133R
E114I
G132K
A126M
D115G
A137T
I135K
L139P
R161N|D162-
L139C
K128N
G132S
G132H
F154A
L152W
V133Q
R159S
G165V
R130-
A137D|Y138-
G165fs
T167F
R130H
D116W
C136M
D162E
I135I|C136-
L140E
V133D
I135Q
K144T
G127V
K125Q
G127A
I168T|P169-
K144Y
R130Y
K128M
H118fs
I122fs
V119-
G143fs
G127H
K164W
L146C
G127E
S113Q
Q149P
I168N
A148A
H123H
R142T
T160D
V133*
L265fs
V166*
G132V
T167K
D115S
T131-
K144F
G129V
F154G
R161R
K164K|G165-
N117P
I168V
M134C
A121R
R159R
T167-
G132I
F154I
I168R
A151fs
I122M
A126D
Y138S
K128G
D153V
G165-
R161F
A126G|G127-
R159T
A120V
L140G
A120R
A148M
T160Q
G127T
C124K
K125H
S113R|E114-
T160T|R161-
A137S
I122*
E114E
G156N
A121fs
L112N
G156I
G156A
L112fs
Q149V
C136R
K125L
K163K|K164-
V133S
G127W
L152L
I135Y
T160K
I122T
D162K
A126G
V166L
V166R
G127L
E157D
L112L|S113-
I168A
A137V
H123Q
S170V
T160R|R161-
A121G
D116Y
K128K|G129-
Q149D
G129G
L146P
V133P
Q171Y
H141P
P169Y
R161D
T167P
S170M
D153I
D115Y
G127C
F154Y
G143R
R142S
S170D
A151K
A126N
A126fs
A121*
V133V|M134-
G143C
Q149fs
H123R
D116G
G143A
D162D
Y155K
M134H
R130Q
E157A
E114Q
A137G
R159F
E114M
I168Q
V119Q
A137R
Y155R
E157H
A137E
E150fs
K147N
V166E
L140H
K125P
D162N
V166C
H123N
T131L
T131E
A120K
S170fs
D153D
R159Y
I168Y
K128T
A137H
E157E
Y155*|G156-
R172S|R173-
K147L
A151E
Y138H
V166P
H118H
Y138T
G165H
I122F
K144fs
L139fs
K164D
E150Q
V166A|T167-
P169F
L112Y
K144N
R142I
Q149S
D115D
H141C
Q149F
G143T
K128fs
Y138I
D162L
L152L|D153-
A121V
K163M
C124-
A137W
K144R
T167Y
R130F
H118Q
E150N
K6fs
L152H
T160I
V133fs
K144P
L139N
G129C
K125E
K144L
Y138L
D153F
K163A
K125N|A126-
F145Q
I135C
I122N
L140V
V133N
R159-
Q171D
K147Y
K147T
G129-
F145G
K144Q
R130R
F154E
V158fs
G165T
G143P
K144*
Y155T
I135D
F154D
K144-
F145S
C124D
L152*
G156*
H123E
L140fs
C136V
L139T
E150D
G127M
G127E|K128-
F154S
L146Q
A148*
I122K
V119A|A120-
A137F
T167I
K164L
N117F
G156Y
K164M
S113I
K164F
H123G
A120W
V158H
R234fs
S113K|E114-
Y138N
K164A
K164*
A120I
K128P
D162P
A148Y
L139W
V133L
A121F
D116V
D115Q
R130M
V158V
V119T
Q149Q
R159D
D115D|D116-
Y155F
P169R
L152fs
A121S
R159M
G143*
K147S
S113N
E157K
V119L
I168W
R161P
H141I
I168H
T131G
G129K
I135N
L146S
I122I
K144V
T131S
M134W
G156L
I168C
I135F
D162I
Q171T
A137A|Y138-
H118K
G156H
E150F
H141Q
V158M
R159L
R161N
Q171fs
L152P
A148P
Q171M
I135fs
R172R
E114D|D115-
K164E
P169S
D115F
K144C
-9
-6
-3
0
3
6
9
Color UMAP plot by:
None
Intensity MeanIntensity mEGFP-PTEN
Intensity MeanIntensity pAKT
Correlation Correlation DAPI mEGFP-PTEN
Randomly selected cell images
Variant: Synonymous
Variant: Frameshift
Feature: Intensity MeanIntensity mEGFP-PTEN
D115M
G132R
K144W
H123T
V119R
T167E
T131F
K163K
R130E
M134S
A121I
K147C
L139E
G143F
V119S
L146R
V158D
K163E
G156R
H141F
L139H
L139I
F154M
V158Y
K125G
D116N
D153W
D115L
A148R
I135R
D116K
E157L
G165Q
V119I
I135E
A151D
G132N
E114C
Q171N
I168F
D162S
G129L
H141E
E150Y
L152R
L146D
K128C
A121K
D115E
E114G
T160N
Q149M
S170N
C124V
I168T
Q149I
V158F
H141A
K128V
H141K
P169I
Y138M
K128S
K147Q
C136W
K125D
Q149L
K128I
Y138V
I122C
D153Y
S170*
G127D
G165R
L152Y
E114H
L140Q
G129F
A120N
A121T
K144S
F145E
A120Q
L112R
G143N
K144K
C124A
E157M
G129P
H123M
C124S
K147W
A121W
K164N
T160F
D162T
D115H
K164G
V119*
E150I
G156G
E157I
Y138W
K164R
Q149G
V158G
E150G
D116D
T167M
D153L
C124Y
R161W
A120F
I135V
D115*
Y138P
T131T
F145A
H141T
F145D
L112C
N117N
L140S
D153K
L146*
N117Y
D153T
K163F
R142K
V166A
A126F
E150H
H118W
L112*
I122Q
K144M
D116T
V119K
A126W
P169*
I135G
I168*
K128W
A120D
A137Q
N117R
L146V
V119W
D162M
T160Y
Y155Y
I135W
R161I
G129H
N117S
T160C
S113Y
G129W
F154T
I122E
E114D
R161*
V158A
A120C
L146I
L112K
E157P
E157C
L146N
R172G
R172L
G165*
R142L
V158W
D162W
V119H
Q171E
D116M
P169C
L139*
M134*
K147M
K164P
L140K
Q149W
R130T
R172V
A148D
K164S
G156C
K164Y
G143G
D162V
Q171F
D162G
S113D
I135A
I168I
M134F
E157G
N117*
R172F
P169W
Y138Q
G165I
V166S
R172C
V158T
R172M
Q171Q
T131*
R130I
D115A
T160A
T160R
V133C
R161S
P169A
E150V
S170Y
S113S
D162*
G156T
A137A
L140W
T167Q
T167L
R159P
K125W
G143V
A151*
R161L
A151L
Q171W
D115N
I122L
E157S
Y155G
L112F
A126L
R159I
K128K
D115I
K125A
R142N
K128A
R161E
L140M
A151A
G129E
A120L
A151V
A148G
G132E
A126Q
C136F
V158P
D116E
G165C
L140*
Q149K
G165N
H118N
L112Q
G165S
S170E
T160W
K164H
G129*
A148L
T131W
L152S
K128L
D116A
K164V
R161Y
F145V
C124*
K125R
A121Y
F145F
C136S
S113W
I168L
K147H
H118G
R159W
H123D
F145L
L139V
T167C
G132D
A137N
K147D
G143M
Y155A
G132F
N117I
T167N
V133A
Y155H
C124E
I135*
A151S
S170W
D153*
A120S
L152G
N117T
I122R
R142W
A151Q
L152M
L146M
A126I
V166F
E157F
A151C
T167*
P169L
T131I
G129Y
V133V
C124C
R172I
V166K
H118T
L139M
K125Y
R161H
S170Q
L140T
Y155L
G127R
K163S
A126V
A121D
P169Q
E114A
R172*
E114P
T131C
C124T
A120E
V158Q
Y138G
A126A
G165K
A120M
C124I
D116P
Q149H
K144D
H141R
C136E
A121A
K125N
P169K
I135S
P169T
A151R
L140L
D116Q
K125M
K144E
V166Y
D153G
L112I
E157W
I122P
M134Q
D116H
V166Q
S170F
C136K
H123K
L152E
M134L
L112S
C124M
Q171*
M134R
F154W
F145*
D153N
K125K
V158S
K163W
R130D
R159A
D162H
A121H
I135M
Q149T
D162Q
A137L
Q171H
H118D
K125*
E157V
A121C
T167W
S170G
G132T
V133M
T160V
K163T
F154F
Q149Y
D115P
A137Y
E157N
I168E
R130L
H123Y
H123I
Q171G
K164I
A137C
T160G
R130P
G127I
L112L
R161A
A120T
R142F
A126C
R142M
C124R
F145P
D153M
L139Q
K125V
H118R
E150L
K144H
H118P
R172S
A126Y
G127P
G143I
K128R
E114Y
A137I
L146A
L140P
L152D
A148S
F145M
H123W
I135P
G143L
D153P
N117K
Y155C
R159G
Q171P
E114K
L139F
Y155V
D162R
I122Y
H118*
H141H
L112A
T167G
R142E
K163Y
L140I
I168G
I122A
Y155Q
L152Q
R142R
C136G
R142H
C136I
K144I
V158E
L139Y
V133G
T131Q
V133E
A151N
K128E
R161M
V133I
A120Y
K147*
D116F
T131M
K163V
D162A
M134V
L139A
G156D
S113T
G165L
Y138R
V133H
C124F
D153C
V119D
Y155E
L146E
V166D
R172N
G156M
Q149C
C136T
H118L
M134I
V133T
G129Q
G165Y
A151G
G127K
L112D
G165E
G132C
L139R
E114F
S170T
A148T
L140A
I168D
I122S
M134E
Y138A
C136Q
V166I
R172A
R161Q
A126*
G143D
E157T
A137D
R172K
R161T
D115C
Y155M
R161C
C136D
L152F
H123V
A151W
M134N
A120G
G132P
L146Y
H118E
T167H
S113H
S170P
K128Q
F145H
R142*
V119N
C136N
C124L
H141S
P169E
R130S
V166V
T167A
T131P
A148Q
E150P
C136P
V119A
T167S
E150A
S170K
G156W
R159V
L152K
L152A
H118I
H141N
Q171K
L152N
A121E
G165G
I135H
Y138E
C124P
R142V
A151M
T160M
T131H
G143Y
V166G
V158N
E150K
V119P
C124G
F154V
L146K
K128D
Q149N
L140R
N117E
Y155P
S113P
D116R
L146W
Y155W
A151H
L140D
Y155I
A151P
F145C
T131Y
V133W
P169G
Y138*
R142G
D116*
L140F
R159Q
T160P
K147G
G129I
S170A
L112V
G127S
C136C
L146F
H118V
D153Q
C124H
L139K
A148K
F154Q
K147F
S170I
D116I
R130N
G156P
I168P
R159H
H118F
R172Y
A148N
G132Q
R130W
L139G
S170C
E114R
I168K
F154L
A148I
R172E
K163*
L152I
P169V
R142A
L146L
D162F
L112M
D115R
Q171S
K147R
V166W
L140C
A148F
Q171L
A120P
R142D
E150*
F154R
F145Y
H123L
Q171I
Y138C
N117M
R159N
A126S
T131R
V158I
A148W
F154*
D116L
Q149A
T131D
C136H
G129M
G132Y
L139D
D162C
H118Y
H123C
F154K
V119V
H141W
V133Y
R130C
G165F
G156V
G143H
C136*
L146T
D153A
M134A
K128F
K164T
Q171R
K163C
K125F
I122W
G165D
F154P
N117A
G132A
P169P
E114V
R172H
C136A
A137K
S113F
K147I
R130A
L146G
P169H
H141G
T160E
D116C
C136Y
G165A
R161K
D153E
M134T
D153H
Y155S
H141D
F145T
R142Q
A137P
I122H
E114S
V166M
H123P
V119F
G156E
R130K
D115W
F154H
S113R
T160H
H118M
E114L
F154C
K125C
Q171C
A148E
S170H
V133R
E114I
G132K
A126M
D115G
A137T
I135K
L139P
L139C
K128N
G132S
G132H
F154A
L152W
V133Q
R159S
G165V
T167F
R130H
D116W
C136M
D162E
L140E
V133D
I135Q
K144T
G127V
K125Q
G127A
K144Y
R130Y
K128M
G127H
K164W
L146C
G127E
S113Q
Q149P
I168N
A148A
H123H
R142T
T160D
V133*
V166*
G132V
T167K
D115S
K144F
G129V
F154G
R161R
N117P
I168V
M134C
A121R
R159R
G132I
F154I
I168R
I122M
A126D
Y138S
K128G
D153V
R161F
R159T
A120V
L140G
A120R
A148M
T160Q
G127T
C124K
K125H
A137S
I122*
E114E
G156N
L112N
G156I
G156A
Q149V
C136R
K125L
V133S
G127W
L152L
I135Y
T160K
I122T
D162K
A126G
V166L
V166R
G127L
E157D
I168A
A137V
H123Q
S170V
A121G
D116Y
Q149D
G129G
L146P
V133P
Q171Y
H141P
P169Y
R161D
T167P
S170M
D153I
D115Y
G127C
F154Y
G143R
R142S
S170D
A151K
A126N
A121*
G143C
H123R
D116G
G143A
D162D
Y155K
M134H
R130Q
E157A
E114Q
A137G
R159F
E114M
I168Q
V119Q
A137R
Y155R
E157H
A137E
K147N
V166E
L140H
K125P
D162N
V166C
H123N
T131L
T131E
A120K
D153D
R159Y
I168Y
K128T
A137H
E157E
K147L
A151E
Y138H
V166P
H118H
Y138T
G165H
I122F
K164D
E150Q
P169F
L112Y
K144N
R142I
Q149S
D115D
H141C
Q149F
G143T
Y138I
D162L
A121V
K163M
A137W
K144R
T167Y
R130F
H118Q
E150N
L152H
T160I
K144P
L139N
G129C
K125E
K144L
Y138L
D153F
K163A
F145Q
I135C
I122N
L140V
V133N
Q171D
K147Y
K147T
F145G
K144Q
R130R
F154E
G165T
G143P
K144*
Y155T
I135D
F154D
F145S
C124D
L152*
G156*
H123E
C136V
L139T
E150D
G127M
F154S
L146Q
A148*
I122K
A137F
T167I
K164L
N117F
G156Y
K164M
S113I
K164F
H123G
A120W
V158H
Y138N
K164A
K164*
A120I
K128P
D162P
A148Y
L139W
V133L
A121F
D116V
D115Q
R130M
V158V
V119T
Q149Q
R159D
Y155F
P169R
A121S
R159M
G143*
K147S
S113N
E157K
V119L
I168W
R161P
H141I
I168H
T131G
G129K
I135N
L146S
I122I
K144V
T131S
M134W
G156L
I168C
I135F
D162I
Q171T
H118K
G156H
E150F
H141Q
V158M
R159L
R161N
L152P
A148P
Q171M
R172R
K164E
P169S
D115F
K144C
115
120
125
130
135
140
145
150
155
160
165
170
A
V
I
L
G
F
Y
W
C
M
P
S
T
N
Q
D
E
H
K
R
*
-9
-6
-3
0
3
6
9
External link
D115M
D115M
G132R
G132R
K144W
K144W
H123T
H123T
V119R
V119R
T167E
T167E
T131F
T131F
K163K
K163K
R130E
R130E
M134S
M134S
A121I
A121I
K147C
K147C
L139E
L139E
G143F
G143F
V119S
V119S
E157fs
E157fs
L146R
L146R
V158D
V158D
K163E
K163E
G156R
G156R
H141F
H141F
F145-
F145-
L139H
L139H
L139I
L139I
F154M
F154M
V158Y
V158Y
K125G
K125G
G156fs
G156fs
D116N
D116N
D153W
D153W
D115L
D115L
A148R
A148R
R173fs
R173fs
I135R
I135R
D116K
D116K
E157L
E157L
G165Q
G165Q
P169P|S170-
P169P|S170-
K147fs
K147fs
V119I
V119I
I135E
I135E
A151D
A151D
G132N
G132N
E114C
E114C
Q171N
Q171N
I168F
I168F
D162S
D162S
G129L
G129L
H141E
H141E
E150Y
E150Y
L152R
L152R
L146D
L146D
K128C
K128C
A121K
A121K
D115E
D115E
E114G
E114G
T160N
T160N
Q149M
Q149M
S170N
S170N
C124V
C124V
I168T
I168T
Q149I
Q149I
V158F
V158F
H141A
H141A
K128V
K128V
H141K
H141K
P169I
P169I
Y138M
Y138M
K128S
K128S
K147Q
K147Q
C136W
C136W
K125D
K125D
D162-
D162-
Q149L
Q149L
K128I
K128I
S170K|Q171-
S170K|Q171-
E157V|V158-
E157V|V158-
Y138V
Y138V
I122C
I122C
D153Y
D153Y
S170*
S170*
G127D
G127D
G165R
G165R
E288fs
E288fs
L152Y
L152Y
E114H
E114H
K128-
K128-
L140Q
L140Q
W111fs
W111fs
G129F
G129F
A120N
A120N
A121T
A121T
K144S
K144S
G143G|K144-
G143G|K144-
F145E
F145E
A120Q
A120Q
L112R
L112R
G143N
G143N
K144K
K144K
C124A
C124A
E157M
E157M
G129P
G129P
H123M
H123M
C124S
C124S
F154Y|Y155-
F154Y|Y155-
K147W
K147W
A121W
A121W
P169-
P169-
K164N
K164N
T160F
T160F
D162T
D162T
D115H
D115H
G132V|V133-
G132V|V133-
K164G
K164G
V119*
V119*
E150I
E150I
G156G
G156G
T167fs
T167fs
E157I
E157I
Y138W
Y138W
K164R
K164R
Q149G
Q149G
L140-
L140-
V158G
V158G
E150G
E150G
D116D
D116D
T167M
T167M
D153L
D153L
C124Y
C124Y
R161W
R161W
A120F
A120F
I135V
I135V
D115*
D115*
Y138P
Y138P
T131T
T131T
F145A
F145A
H141T
H141T
F145D
F145D
L112C
L112C
N117N
N117N
R172-
R172-
L140S
L140S
D153K
D153K
L146*
L146*
N117Y
N117Y
D153T
D153T
K163F
K163F
R142K
R142K
V166A
V166A
A126F
A126F
E150H
E150H
H118W
H118W
L112*
L112*
H141-
H141-
I122Q
I122Q
K144M
K144M
D116T
D116T
V119K
V119K
A126W
A126W
P169*
P169*
I135G
I135G
I168*
I168*
K128W
K128W
A120D
A120D
A137Q
A137Q
N117R
N117R
R159S|T160-
R159S|T160-
L146V
L146V
V119W
V119W
D162M
D162M
T160Y
T160Y
Y155Y
Y155Y
I135W
I135W
D162fs
D162fs
R161I
R161I
G129H
G129H
T348fs
T348fs
N117S
N117S
I122-
I122-
P169R|S170-
P169R|S170-
T160C
T160C
A121-
A121-
S113Y
S113Y
G129W
G129W
F154T
F154T
I122E
I122E
E114D
E114D
R161*
R161*
V158A
V158A
A120C
A120C
L146I
L146I
C124*|K125-
C124*|K125-
A151V|L152-
A151V|L152-
F145fs
F145fs
L112K
L112K
E157P
E157P
E157C
E157C
L146N
L146N
R172G
R172G
R172L
R172L
G165*
G165*
R142L
R142L
V158W
V158W
D162W
D162W
V119H
V119H
Q171E
Q171E
D116M
D116M
P169C
P169C
L139*
L139*
M134*
M134*
S170R|Q171-
S170R|Q171-
K147M
K147M
K164P
K164P
C136S|A137-
C136S|A137-
L140K
L140K
Q149W
Q149W
R130T
R130T
R172V
R172V
R161S|D162-
R161S|D162-
A148D
A148D
K164S
K164S
G156C
G156C
K164Y
K164Y
G143G
G143G
D162V
D162V
Q171F
Q171F
D162G
D162G
S113D
S113D
I135A
I135A
I168I
I168I
M134F
M134F
G127G|K128-
G127G|K128-
E157G
E157G
N117*
N117*
R172F
R172F
P169W
P169W
Y138Q
Y138Q
G165I
G165I
V166S
V166S
R172C
R172C
V158T
V158T
A151A|L152-
A151A|L152-
R172M
R172M
Q171Q
Q171Q
T131*
T131*
R130I
R130I
D115A
D115A
V166fs
V166fs
T160A
T160A
T160R
T160R
V133C
V133C
R161S
R161S
P169A
P169A
E150V
E150V
S170Y
S170Y
S113S
S113S
D162*
D162*
G156T
G156T
E114-
E114-
A137A
A137A
L140W
L140W
T167Q
T167Q
T167L
T167L
R159P
R159P
K125W
K125W
F56fs
F56fs
Y174fs
Y174fs
G143V
G143V
A151*
A151*
R161L
R161L
A151L
A151L
Q171W
Q171W
D115N
D115N
I122L
I122L
E157S
E157S
Y155G
Y155G
L112F
L112F
A126L
A126L
R159I
R159I
K128K
K128K
D115I
D115I
K125A
K125A
R142N
R142N
K128A
K128A
R161E
R161E
L140M
L140M
A151A
A151A
G129E
G129E
A120L
A120L
A151V
A151V
A148G
A148G
A126A|G127-
A126A|G127-
G132E
G132E
A126Q
A126Q
C136F
C136F
S170-
S170-
V158P
V158P
D116E
D116E
G165C
G165C
R130fs
R130fs
L140*
L140*
Q149K
Q149K
G165N
G165N
H118N
H118N
L112Q
L112Q
G165S
G165S
S170E
S170E
T160W
T160W
K164H
K164H
G129*
G129*
A148L
A148L
T131W
T131W
L152S
L152S
K128L
K128L
A126-
A126-
D116A
D116A
K164V
K164V
R161Y
R161Y
F145V
F145V
C124*
C124*
K125R
K125R
A121Y
A121Y
F145F
F145F
C136S
C136S
S113W
S113W
I168L
I168L
K147H
K147H
H118G
H118G
R159W
R159W
H123D
H123D
D153-
D153-
F145L
F145L
L139V
L139V
T167C
T167C
G132D
G132D
A137N
A137N
K147D
K147D
G143M
G143M
Y155A
Y155A
G132F
G132F
A137-
A137-
D116D|N117-
D116D|N117-
N117I
N117I
T167N
T167N
V133A
V133A
Y155H
Y155H
C124E
C124E
H123H|C124-
H123H|C124-
I135*
I135*
A151S
A151S
S170W
S170W
D153*
D153*
A120S
A120S
L152G
L152G
N117T
N117T
I122R
I122R
R142W
R142W
A151Q
A151Q
L152M
L152M
L146M
L146M
A126I
A126I
V166F
V166F
G132-
G132-
E157F
E157F
A151C
A151C
T167*
T167*
Q149Q|E150-
Q149Q|E150-
P169L
P169L
T131I
T131I
G129Y
G129Y
V133V
V133V
C124C
C124C
R172I
R172I
V166K
V166K
H118T
H118T
L139M
L139M
K125Y
K125Y
R161H
R161H
S170Q
S170Q
L140T
L140T
Y155L
Y155L
G127R
G127R
K163S
K163S
A126V
A126V
A121D
A121D
P169Q
P169Q
E114A
E114A
R172*
R172*
E114P
E114P
T131C
T131C
C124T
C124T
A120E
A120E
V158Q
V158Q
Y138G
Y138G
A126A
A126A
G165K
G165K
A120M
A120M
C124I
C124I
D116P
D116P
Q149H
Q149H
K144D
K144D
H141R
H141R
C136E
C136E
A121A
A121A
K125N
K125N
P169K
P169K
I135S
I135S
P169T
P169T
A151R
A151R
L140L
L140L
D116Q
D116Q
K125M
K125M
K144E
K144E
V166Y
V166Y
D153G
D153G
L112I
L112I
E157W
E157W
I122P
I122P
M134Q
M134Q
D116H
D116H
C136-
C136-
A120fs
A120fs
V166Q
V166Q
S170F
S170F
C136K
C136K
H123K
H123K
L152E
L152E
M134L
M134L
L112S
L112S
C124M
C124M
H141fs
H141fs
Q171*
Q171*
I168-
I168-
M134R
M134R
F154W
F154W
F145*
F145*
D153N
D153N
K125K
K125K
V158S
V158S
Q171-
Q171-
K163W
K163W
R130D
R130D
C136fs
C136fs
R159A
R159A
I122N|H123-
I122N|H123-
D162H
D162H
A121H
A121H
I135M
I135M
Q149T
Q149T
D162Q
D162Q
A137L
A137L
Q171H
Q171H
H118D
H118D
K125*
K125*
R172fs
R172fs
E157V
E157V
A121C
A121C
T167W
T167W
K164fs
K164fs
S170G
S170G
G132T
G132T
V133M
V133M
T160V
T160V
F154-
F154-
K163T
K163T
F154F
F154F
Q149Y
Q149Y
D115P
D115P
E150D|A151-
E150D|A151-
A137Y
A137Y
E157N
E157N
I168E
I168E
R130L
R130L
H123Y
H123Y
T131S|G132-
T131S|G132-
H123I
H123I
G156E|E157-
G156E|E157-
G127fs
G127fs
V166-
V166-
Q171G
Q171G
K164I
K164I
A137C
A137C
T160G
T160G
L152H|D153-
L152H|D153-
T167I|I168-
T167I|I168-
R130P
R130P
K125-
K125-
G127I
G127I
I168fs
I168fs
L112L
L112L
R161A
R161A
A120T
A120T
R142F
R142F
A126C
A126C
R142M
R142M
C124R
C124R
F145P
F145P
D153M
D153M
L139Q
L139Q
K125V
K125V
H118R
H118R
E150L
E150L
K144H
K144H
H118P
H118P
R172S
R172S
A126Y
A126Y
G127P
G127P
G143I
G143I
K128R
K128R
E114Y
E114Y
R159T|T160-
R159T|T160-
A137I
A137I
L146A
L146A
L140P
L140P
L152D
L152D
A148S
A148S
M134-
M134-
F145M
F145M
H123W
H123W
F154fs
F154fs
I135P
I135P
G143L
G143L
D153P
D153P
N117K
N117K
Y155C
Y155C
R159G
R159G
Q171P
Q171P
E114K
E114K
L139F
L139F
Y155V
Y155V
L146L|K147-
L146L|K147-
D162R
D162R
I122Y
I122Y
H118*
H118*
H141H
H141H
L112A
L112A
T167G
T167G
R142E
R142E
K163Y
K163Y
L140I
L140I
I168G
I168G
I122A
I122A
K144I|F145-
K144I|F145-
Y155Q
Y155Q
L152Q
L152Q
R142R
R142R
C136G
C136G
R142H
R142H
C136I
C136I
K144I
K144I
V158E
V158E
L139Y
L139Y
V133G
V133G
D153fs
D153fs
T131Q
T131Q
V133E
V133E
A151N
A151N
K128E
K128E
R161M
R161M
V133I
V133I
A120Y
A120Y
K147*
K147*
D116F
D116F
T131M
T131M
K163V
K163V
D162A
D162A
M134V
M134V
L139A
L139A
G156D
G156D
S113T
S113T
G165L
G165L
T321fs
T321fs
Y138R
Y138R
C136*|A137-
C136*|A137-
V133H
V133H
C124F
C124F
D153C
D153C
V119D
V119D
Y155E
Y155E
L146E
L146E
R161fs
R161fs
V166D
V166D
R172N
R172N
G156M
G156M
G165V|V166-
G165V|V166-
Q149C
Q149C
C136T
C136T
H118L
H118L
M134I
M134I
V133T
V133T
G129Q
G129Q
G165Y
G165Y
A151G
A151G
G127K
G127K
L112D
L112D
G165E
G165E
G132C
G132C
R142R|G143-
R142R|G143-
L139R
L139R
E114F
E114F
S170T
S170T
A148T
A148T
L140A
L140A
I168D
I168D
I122S
I122S
M134E
M134E
V158G|R159-
V158G|R159-
Y138A
Y138A
C136Q
C136Q
V166I
V166I
R172A
R172A
R161Q
R161Q
A126*
A126*
G143D
G143D
E157T
E157T
A137D
A137D
R172K
R172K
R161T
R161T
D115C
D115C
Y155M
Y155M
R161C
R161C
C136D
C136D
L152F
L152F
H123V
H123V
A151W
A151W
M134N
M134N
Y138L|L139-
Y138L|L139-
A120G
A120G
G132P
G132P
L146Y
L146Y
H118E
H118E
T167H
T167H
I122I|H123-
I122I|H123-
S113H
S113H
S170P
S170P
K128Q
K128Q
F145H
F145H
R142*
R142*
V119N
V119N
C136N
C136N
C124L
C124L
H118-
H118-
H141S
H141S
P169E
P169E
R130S
R130S
V166V
V166V
T167A
T167A
T131P
T131P
A148Q
A148Q
M134I|I135-
M134I|I135-
E150P
E150P
C136P
C136P
V119A
V119A
H141R|R142-
H141R|R142-
T167S
T167S
E150A
E150A
S170K
S170K
G156W
G156W
R159V
R159V
Q149-
Q149-
L152K
L152K
L152A
L152A
H118I
H118I
H141N
H141N
Q171K
Q171K
L152N
L152N
A121E
A121E
G165G
G165G
I135H
I135H
Y138E
Y138E
C124P
C124P
R142V
R142V
G156-
G156-
A151M
A151M
T160M
T160M
T131H
T131H
G143Y
G143Y
V166G
V166G
V158N
V158N
E150K
E150K
V119P
V119P
C124G
C124G
F154V
F154V
L146K
L146K
K128D
K128D
K125T|A126-
K125T|A126-
Q149N
Q149N
L140R
L140R
R142fs
R142fs
N117E
N117E
Y155P
Y155P
S113P
S113P
D116R
D116R
L146W
L146W
Y155W
Y155W
A151H
A151H
H141Q|R142-
H141Q|R142-
L140D
L140D
Q171R|R172-
Q171R|R172-
Y155I
Y155I
A151P
A151P
F145C
F145C
T131Y
T131Y
H61fs
H61fs
V133W
V133W
A148fs
A148fs
V158-
V158-
P169G
P169G
Y138*
Y138*
R159fs
R159fs
R142G
R142G
D116*
D116*
M134fs
M134fs
S113fs
S113fs
L140F
L140F
R159Q
R159Q
T160P
T160P
L146fs
L146fs
K147G
K147G
G129I
G129I
S170A
S170A
L112V
L112V
G127S
G127S
C136C
C136C
Y138*|L139-
Y138*|L139-
L146F
L146F
H118V
H118V
D153Q
D153Q
C124H
C124H
L139K
L139K
Y155W|G156-
Y155W|G156-
A148K
A148K
F154Q
F154Q
K147F
K147F
S170I
S170I
K163-
K163-
D116I
D116I
R130N
R130N
G156P
G156P
I168P
I168P
R159H
R159H
H118F
H118F
R172Y
R172Y
A148N
A148N
K128R|G129-
K128R|G129-
G132Q
G132Q
R130W
R130W
L139G
L139G
D162E|K163-
D162E|K163-
S170C
S170C
E114R
E114R
I168K
I168K
F154L
F154L
F154F|Y155-
F154F|Y155-
A148I
A148I
R172E
R172E
K163*
K163*
L152I
L152I
F145L|L146-
F145L|L146-
P169V
P169V
R142A
R142A
L146L
L146L
D162F
D162F
P89fs
P89fs
L112M
L112M
D115R
D115R
Q171S
Q171S
K147R
K147R
V166W
V166W
T131fs
T131fs
L140C
L140C
P169fs
P169fs
A148F
A148F
Q171L
Q171L
A120P
A120P
R142D
R142D
E150*
E150*
F154R
F154R
F145Y
F145Y
H123L
H123L
Q171I
Q171I
Y138C
Y138C
N117M
N117M
G156G|E157-
G156G|E157-
R159N
R159N
A126S
A126S
T131R
T131R
V158I
V158I
A148W
A148W
F154*
F154*
D116L
D116L
Q149A
Q149A
T131D
T131D
C136H
C136H
G129M
G129M
G132Y
G132Y
L139D
L139D
D162C
D162C
H118Y
H118Y
H123C
H123C
F154K
F154K
V119V
V119V
H141W
H141W
K144N|F145-
K144N|F145-
V133Y
V133Y
R130C
R130C
G165F
G165F
G156V
G156V
G143H
G143H
C136*
C136*
L146T
L146T
D153A
D153A
M134A
M134A
K128F
K128F
K164T
K164T
Q171R
Q171R
K163C
K163C
K125F
K125F
I122W
I122W
G165D
G165D
T160fs
T160fs
F154P
F154P
N117A
N117A
G132A
G132A
P169P
P169P
K147K|A148-
K147K|A148-
E114V
E114V
K125fs
K125fs
R172H
R172H
C136A
C136A
A137K
A137K
S113F
S113F
K147I
K147I
R130A
R130A
L146G
L146G
P169H
P169H
K147T|A148-
K147T|A148-
H123R|C124-
H123R|C124-
H141G
H141G
T160E
T160E
D116C
D116C
C136Y
C136Y
G165A
G165A
R55fs
R55fs
R161K
R161K
D153E
D153E
M134T
M134T
D153H
D153H
Y155S
Y155S
H141D
H141D
F145T
F145T
R142Q
R142Q
A137P
A137P
Y155fs
Y155fs
I122H
I122H
E114S
E114S
V166M
V166M
G143-
G143-
H123P
H123P
V119F
V119F
G156E
G156E
R130K
R130K
D115W
D115W
F154H
F154H
S113R
S113R
T160H
T160H
G132fs
G132fs
H118M
H118M
E114L
E114L
F154C
F154C
K125C
K125C
Q171C
Q171C
A148E
A148E
S170H
S170H
V133R
V133R
E114I
E114I
G132K
G132K
A126M
A126M
D115G
D115G
A137T
A137T
I135K
I135K
L139P
L139P
R161N|D162-
R161N|D162-
L139C
L139C
K128N
K128N
G132S
G132S
G132H
G132H
F154A
F154A
L152W
L152W
V133Q
V133Q
R159S
R159S
G165V
G165V
R130-
R130-
A137D|Y138-
A137D|Y138-
G165fs
G165fs
T167F
T167F
R130H
R130H
D116W
D116W
C136M
C136M
D162E
D162E
I135I|C136-
I135I|C136-
L140E
L140E
V133D
V133D
I135Q
I135Q
K144T
K144T
G127V
G127V
K125Q
K125Q
G127A
G127A
I168T|P169-
I168T|P169-
K144Y
K144Y
R130Y
R130Y
K128M
K128M
H118fs
H118fs
I122fs
I122fs
V119-
V119-
G143fs
G143fs
G127H
G127H
K164W
K164W
L146C
L146C
G127E
G127E
S113Q
S113Q
Q149P
Q149P
I168N
I168N
A148A
A148A
H123H
H123H
R142T
R142T
T160D
T160D
V133*
V133*
L265fs
L265fs
V166*
V166*
G132V
G132V
T167K
T167K
D115S
D115S
T131-
T131-
K144F
K144F
G129V
G129V
F154G
F154G
R161R
R161R
K164K|G165-
K164K|G165-
N117P
N117P
I168V
I168V
M134C
M134C
A121R
A121R
R159R
R159R
T167-
T167-
G132I
G132I
F154I
F154I
I168R
I168R
A151fs
A151fs
I122M
I122M
A126D
A126D
Y138S
Y138S
K128G
K128G
D153V
D153V
G165-
G165-
R161F
R161F
A126G|G127-
A126G|G127-
R159T
R159T
A120V
A120V
L140G
L140G
A120R
A120R
A148M
A148M
T160Q
T160Q
G127T
G127T
C124K
C124K
K125H
K125H
S113R|E114-
S113R|E114-
T160T|R161-
T160T|R161-
A137S
A137S
I122*
I122*
E114E
E114E
G156N
G156N
A121fs
A121fs
L112N
L112N
G156I
G156I
G156A
G156A
L112fs
L112fs
Q149V
Q149V
C136R
C136R
K125L
K125L
K163K|K164-
K163K|K164-
V133S
V133S
G127W
G127W
L152L
L152L
I135Y
I135Y
T160K
T160K
I122T
I122T
D162K
D162K
A126G
A126G
V166L
V166L
V166R
V166R
G127L
G127L
E157D
E157D
L112L|S113-
L112L|S113-
I168A
I168A
A137V
A137V
H123Q
H123Q
S170V
S170V
T160R|R161-
T160R|R161-
A121G
A121G
D116Y
D116Y
K128K|G129-
K128K|G129-
Q149D
Q149D
G129G
G129G
L146P
L146P
V133P
V133P
Q171Y
Q171Y
H141P
H141P
P169Y
P169Y
R161D
R161D
T167P
T167P
S170M
S170M
D153I
D153I
D115Y
D115Y
G127C
G127C
F154Y
F154Y
G143R
G143R
R142S
R142S
S170D
S170D
A151K
A151K
A126N
A126N
A126fs
A126fs
A121*
A121*
V133V|M134-
V133V|M134-
G143C
G143C
Q149fs
Q149fs
H123R
H123R
D116G
D116G
G143A
G143A
D162D
D162D
Y155K
Y155K
M134H
M134H
R130Q
R130Q
E157A
E157A
E114Q
E114Q
A137G
A137G
R159F
R159F
E114M
E114M
I168Q
I168Q
V119Q
V119Q
A137R
A137R
Y155R
Y155R
E157H
E157H
A137E
A137E
E150fs
E150fs
K147N
K147N
V166E
V166E
L140H
L140H
K125P
K125P
D162N
D162N
V166C
V166C
H123N
H123N
T131L
T131L
T131E
T131E
A120K
A120K
S170fs
S170fs
D153D
D153D
R159Y
R159Y
I168Y
I168Y
K128T
K128T
A137H
A137H
E157E
E157E
Y155*|G156-
Y155*|G156-
R172S|R173-
R172S|R173-
K147L
K147L
A151E
A151E
Y138H
Y138H
V166P
V166P
H118H
H118H
Y138T
Y138T
G165H
G165H
I122F
I122F
K144fs
K144fs
L139fs
L139fs
K164D
K164D
E150Q
E150Q
V166A|T167-
V166A|T167-
P169F
P169F
L112Y
L112Y
K144N
K144N
R142I
R142I
Q149S
Q149S
D115D
D115D
H141C
H141C
Q149F
Q149F
G143T
G143T
K128fs
K128fs
Y138I
Y138I
D162L
D162L
L152L|D153-
L152L|D153-
A121V
A121V
K163M
K163M
C124-
C124-
A137W
A137W
K144R
K144R
T167Y
T167Y
R130F
R130F
H118Q
H118Q
E150N
E150N
K6fs
K6fs
L152H
L152H
T160I
T160I
V133fs
V133fs
K144P
K144P
L139N
L139N
G129C
G129C
K125E
K125E
K144L
K144L
Y138L
Y138L
D153F
D153F
K163A
K163A
K125N|A126-
K125N|A126-
F145Q
F145Q
I135C
I135C
I122N
I122N
L140V
L140V
V133N
V133N
R159-
R159-
Q171D
Q171D
K147Y
K147Y
K147T
K147T
G129-
G129-
F145G
F145G
K144Q
K144Q
R130R
R130R
F154E
F154E
V158fs
V158fs
G165T
G165T
G143P
G143P
K144*
K144*
Y155T
Y155T
I135D
I135D
F154D
F154D
K144-
K144-
F145S
F145S
C124D
C124D
L152*
L152*
G156*
G156*
H123E
H123E
L140fs
L140fs
C136V
C136V
L139T
L139T
E150D
E150D
G127M
G127M
G127E|K128-
G127E|K128-
F154S
F154S
L146Q
L146Q
A148*
A148*
I122K
I122K
V119A|A120-
V119A|A120-
A137F
A137F
T167I
T167I
K164L
K164L
N117F
N117F
G156Y
G156Y
K164M
K164M
S113I
S113I
K164F
K164F
H123G
H123G
A120W
A120W
V158H
V158H
R234fs
R234fs
S113K|E114-
S113K|E114-
Y138N
Y138N
K164A
K164A
K164*
K164*
A120I
A120I
K128P
K128P
D162P
D162P
A148Y
A148Y
L139W
L139W
V133L
V133L
A121F
A121F
D116V
D116V
D115Q
D115Q
R130M
R130M
V158V
V158V
V119T
V119T
Q149Q
Q149Q
R159D
R159D
D115D|D116-
D115D|D116-
Y155F
Y155F
P169R
P169R
L152fs
L152fs
A121S
A121S
R159M
R159M
G143*
G143*
K147S
K147S
S113N
S113N
E157K
E157K
V119L
V119L
I168W
I168W
R161P
R161P
H141I
H141I
I168H
I168H
T131G
T131G
G129K
G129K
I135N
I135N
L146S
L146S
I122I
I122I
K144V
K144V
T131S
T131S
M134W
M134W
G156L
G156L
I168C
I168C
I135F
I135F
D162I
D162I
Q171T
Q171T
A137A|Y138-
A137A|Y138-
H118K
H118K
G156H
G156H
E150F
E150F
H141Q
H141Q
V158M
V158M
R159L
R159L
R161N
R161N
Q171fs
Q171fs
L152P
L152P
A148P
A148P
Q171M
Q171M
I135fs
I135fs
R172R
R172R
E114D|D115-
E114D|D115-
K164E
K164E
P169S
P169S
D115F
D115F
K144C
K144C
Single Missense
Cluster 7
Cluster 3
Cluster 5
Cluster 9
Cluster 8
Cluster 10
Synonymous
Cluster 1
Cluster 6
Frameshift
Cluster 2
ASD/DD
3nt Deletion
Cluster 4
gnomAD controls
PHTS
Somatic cancer
ClinVar: LP
Nonsense
ClinVar: P
ClinVar: LB
0
20
40
60
80
-6
-4
-2
0
External link
D115M
D115M
G132R
G132R
K144W
K144W
H123T
H123T
V119R
V119R
T167E
T167E
T131F
T131F
K163K
K163K
R130E
R130E
M134S
M134S
A121I
A121I
K147C
K147C
L139E
L139E
G143F
G143F
V119S
V119S
E157fs
E157fs
L146R
L146R
V158D
V158D
K163E
K163E
G156R
G156R
H141F
H141F
F145-
F145-
L139H
L139H
L139I
L139I
F154M
F154M
V158Y
V158Y
K125G
K125G
G156fs
G156fs
D116N
D116N
D153W
D153W
D115L
D115L
A148R
A148R
R173fs
R173fs
I135R
I135R
D116K
D116K
E157L
E157L
G165Q
G165Q
P169P|S170-
P169P|S170-
K147fs
K147fs
V119I
V119I
I135E
I135E
A151D
A151D
G132N
G132N
E114C
E114C
Q171N
Q171N
I168F
I168F
D162S
D162S
G129L
G129L
H141E
H141E
E150Y
E150Y
L152R
L152R
L146D
L146D
K128C
K128C
A121K
A121K
D115E
D115E
E114G
E114G
T160N
T160N
Q149M
Q149M
S170N
S170N
C124V
C124V
I168T
I168T
Q149I
Q149I
V158F
V158F
H141A
H141A
K128V
K128V
H141K
H141K
P169I
P169I
Y138M
Y138M
K128S
K128S
K147Q
K147Q
C136W
C136W
K125D
K125D
D162-
D162-
Q149L
Q149L
K128I
K128I
S170K|Q171-
S170K|Q171-
E157V|V158-
E157V|V158-
Y138V
Y138V
I122C
I122C
D153Y
D153Y
S170*
S170*
G127D
G127D
G165R
G165R
E288fs
E288fs
L152Y
L152Y
E114H
E114H
K128-
K128-
L140Q
L140Q
W111fs
W111fs
G129F
G129F
A120N
A120N
A121T
A121T
K144S
K144S
G143G|K144-
G143G|K144-
F145E
F145E
A120Q
A120Q
L112R
L112R
G143N
G143N
K144K
K144K
C124A
C124A
E157M
E157M
G129P
G129P
H123M
H123M
C124S
C124S
F154Y|Y155-
F154Y|Y155-
K147W
K147W
A121W
A121W
P169-
P169-
K164N
K164N
T160F
T160F
D162T
D162T
D115H
D115H
G132V|V133-
G132V|V133-
K164G
K164G
V119*
V119*
E150I
E150I
G156G
G156G
T167fs
T167fs
E157I
E157I
Y138W
Y138W
K164R
K164R
Q149G
Q149G
L140-
L140-
V158G
V158G
E150G
E150G
D116D
D116D
T167M
T167M
D153L
D153L
C124Y
C124Y
R161W
R161W
A120F
A120F
I135V
I135V
D115*
D115*
Y138P
Y138P
T131T
T131T
F145A
F145A
H141T
H141T
F145D
F145D
L112C
L112C
N117N
N117N
R172-
R172-
L140S
L140S
D153K
D153K
L146*
L146*
N117Y
N117Y
D153T
D153T
K163F
K163F
R142K
R142K
V166A
V166A
A126F
A126F
E150H
E150H
H118W
H118W
L112*
L112*
H141-
H141-
I122Q
I122Q
K144M
K144M
D116T
D116T
V119K
V119K
A126W
A126W
P169*
P169*
I135G
I135G
I168*
I168*
K128W
K128W
A120D
A120D
A137Q
A137Q
N117R
N117R
R159S|T160-
R159S|T160-
L146V
L146V
V119W
V119W
D162M
D162M
T160Y
T160Y
Y155Y
Y155Y
I135W
I135W
D162fs
D162fs
R161I
R161I
G129H
G129H
T348fs
T348fs
N117S
N117S
I122-
I122-
P169R|S170-
P169R|S170-
T160C
T160C
A121-
A121-
S113Y
S113Y
G129W
G129W
F154T
F154T
I122E
I122E
E114D
E114D
R161*
R161*
V158A
V158A
A120C
A120C
L146I
L146I
C124*|K125-
C124*|K125-
A151V|L152-
A151V|L152-
F145fs
F145fs
L112K
L112K
E157P
E157P
E157C
E157C
L146N
L146N
R172G
R172G
R172L
R172L
G165*
G165*
R142L
R142L
V158W
V158W
D162W
D162W
V119H
V119H
Q171E
Q171E
D116M
D116M
P169C
P169C
L139*
L139*
M134*
M134*
S170R|Q171-
S170R|Q171-
K147M
K147M
K164P
K164P
C136S|A137-
C136S|A137-
L140K
L140K
Q149W
Q149W
R130T
R130T
R172V
R172V
R161S|D162-
R161S|D162-
A148D
A148D
K164S
K164S
G156C
G156C
K164Y
K164Y
G143G
G143G
D162V
D162V
Q171F
Q171F
D162G
D162G
S113D
S113D
I135A
I135A
I168I
I168I
M134F
M134F
G127G|K128-
G127G|K128-
E157G
E157G
N117*
N117*
R172F
R172F
P169W
P169W
Y138Q
Y138Q
G165I
G165I
V166S
V166S
R172C
R172C
V158T
V158T
A151A|L152-
A151A|L152-
R172M
R172M
Q171Q
Q171Q
T131*
T131*
R130I
R130I
D115A
D115A
V166fs
V166fs
T160A
T160A
T160R
T160R
V133C
V133C
R161S
R161S
P169A
P169A
E150V
E150V
S170Y
S170Y
S113S
S113S
D162*
D162*
G156T
G156T
E114-
E114-
A137A
A137A
L140W
L140W
T167Q
T167Q
T167L
T167L
R159P
R159P
K125W
K125W
F56fs
F56fs
Y174fs
Y174fs
G143V
G143V
A151*
A151*
R161L
R161L
A151L
A151L
Q171W
Q171W
D115N
D115N
I122L
I122L
E157S
E157S
Y155G
Y155G
L112F
L112F
A126L
A126L
R159I
R159I
K128K
K128K
D115I
D115I
K125A
K125A
R142N
R142N
K128A
K128A
R161E
R161E
L140M
L140M
A151A
A151A
G129E
G129E
A120L
A120L
A151V
A151V
A148G
A148G
A126A|G127-
A126A|G127-
G132E
G132E
A126Q
A126Q
C136F
C136F
S170-
S170-
V158P
V158P
D116E
D116E
G165C
G165C
R130fs
R130fs
L140*
L140*
Q149K
Q149K
G165N
G165N
H118N
H118N
L112Q
L112Q
G165S
G165S
S170E
S170E
T160W
T160W
K164H
K164H
G129*
G129*
A148L
A148L
T131W
T131W
L152S
L152S
K128L
K128L
A126-
A126-
D116A
D116A
K164V
K164V
R161Y
R161Y
F145V
F145V
C124*
C124*
K125R
K125R
A121Y
A121Y
F145F
F145F
C136S
C136S
S113W
S113W
I168L
I168L
K147H
K147H
H118G
H118G
R159W
R159W
H123D
H123D
D153-
D153-
F145L
F145L
L139V
L139V
T167C
T167C
G132D
G132D
A137N
A137N
K147D
K147D
G143M
G143M
Y155A
Y155A
G132F
G132F
A137-
A137-
D116D|N117-
D116D|N117-
N117I
N117I
T167N
T167N
V133A
V133A
Y155H
Y155H
C124E
C124E
H123H|C124-
H123H|C124-
I135*
I135*
A151S
A151S
S170W
S170W
D153*
D153*
A120S
A120S
L152G
L152G
N117T
N117T
I122R
I122R
R142W
R142W
A151Q
A151Q
L152M
L152M
L146M
L146M
A126I
A126I
V166F
V166F
G132-
G132-
E157F
E157F
A151C
A151C
T167*
T167*
Q149Q|E150-
Q149Q|E150-
P169L
P169L
T131I
T131I
G129Y
G129Y
V133V
V133V
C124C
C124C
R172I
R172I
V166K
V166K
H118T
H118T
L139M
L139M
K125Y
K125Y
R161H
R161H
S170Q
S170Q
L140T
L140T
Y155L
Y155L
G127R
G127R
K163S
K163S
A126V
A126V
A121D
A121D
P169Q
P169Q
E114A
E114A
R172*
R172*
E114P
E114P
T131C
T131C
C124T
C124T
A120E
A120E
V158Q
V158Q
Y138G
Y138G
A126A
A126A
G165K
G165K
A120M
A120M
C124I
C124I
D116P
D116P
Q149H
Q149H
K144D
K144D
H141R
H141R
C136E
C136E
A121A
A121A
K125N
K125N
P169K
P169K
I135S
I135S
P169T
P169T
A151R
A151R
L140L
L140L
D116Q
D116Q
K125M
K125M
K144E
K144E
V166Y
V166Y
D153G
D153G
L112I
L112I
E157W
E157W
I122P
I122P
M134Q
M134Q
D116H
D116H
C136-
C136-
A120fs
A120fs
V166Q
V166Q
S170F
S170F
C136K
C136K
H123K
H123K
L152E
L152E
M134L
M134L
L112S
L112S
C124M
C124M
H141fs
H141fs
Q171*
Q171*
I168-
I168-
M134R
M134R
F154W
F154W
F145*
F145*
D153N
D153N
K125K
K125K
V158S
V158S
Q171-
Q171-
K163W
K163W
R130D
R130D
C136fs
C136fs
R159A
R159A
I122N|H123-
I122N|H123-
D162H
D162H
A121H
A121H
I135M
I135M
Q149T
Q149T
D162Q
D162Q
A137L
A137L
Q171H
Q171H
H118D
H118D
K125*
K125*
R172fs
R172fs
E157V
E157V
A121C
A121C
T167W
T167W
K164fs
K164fs
S170G
S170G
G132T
G132T
V133M
V133M
T160V
T160V
F154-
F154-
K163T
K163T
F154F
F154F
Q149Y
Q149Y
D115P
D115P
E150D|A151-
E150D|A151-
A137Y
A137Y
E157N
E157N
I168E
I168E
R130L
R130L
H123Y
H123Y
T131S|G132-
T131S|G132-
H123I
H123I
G156E|E157-
G156E|E157-
G127fs
G127fs
V166-
V166-
Q171G
Q171G
K164I
K164I
A137C
A137C
T160G
T160G
L152H|D153-
L152H|D153-
T167I|I168-
T167I|I168-
R130P
R130P
K125-
K125-
G127I
G127I
I168fs
I168fs
L112L
L112L
R161A
R161A
A120T
A120T
R142F
R142F
A126C
A126C
R142M
R142M
C124R
C124R
F145P
F145P
D153M
D153M
L139Q
L139Q
K125V
K125V
H118R
H118R
E150L
E150L
K144H
K144H
H118P
H118P
R172S
R172S
A126Y
A126Y
G127P
G127P
G143I
G143I
K128R
K128R
E114Y
E114Y
R159T|T160-
R159T|T160-
A137I
A137I
L146A
L146A
L140P
L140P
L152D
L152D
A148S
A148S
M134-
M134-
F145M
F145M
H123W
H123W
F154fs
F154fs
I135P
I135P
G143L
G143L
D153P
D153P
N117K
N117K
Y155C
Y155C
R159G
R159G
Q171P
Q171P
E114K
E114K
L139F
L139F
Y155V
Y155V
L146L|K147-
L146L|K147-
D162R
D162R
I122Y
I122Y
H118*
H118*
H141H
H141H
L112A
L112A
T167G
T167G
R142E
R142E
K163Y
K163Y
L140I
L140I
I168G
I168G
I122A
I122A
K144I|F145-
K144I|F145-
Y155Q
Y155Q
L152Q
L152Q
R142R
R142R
C136G
C136G
R142H
R142H
C136I
C136I
K144I
K144I
V158E
V158E
L139Y
L139Y
V133G
V133G
D153fs
D153fs
T131Q
T131Q
V133E
V133E
A151N
A151N
K128E
K128E
R161M
R161M
V133I
V133I
A120Y
A120Y
K147*
K147*
D116F
D116F
T131M
T131M
K163V
K163V
D162A
D162A
M134V
M134V
L139A
L139A
G156D
G156D
S113T
S113T
G165L
G165L
T321fs
T321fs
Y138R
Y138R
C136*|A137-
C136*|A137-
V133H
V133H
C124F
C124F
D153C
D153C
V119D
V119D
Y155E
Y155E
L146E
L146E
R161fs
R161fs
V166D
V166D
R172N
R172N
G156M
G156M
G165V|V166-
G165V|V166-
Q149C
Q149C
C136T
C136T
H118L
H118L
M134I
M134I
V133T
V133T
G129Q
G129Q
G165Y
G165Y
A151G
A151G
G127K
G127K
L112D
L112D
G165E
G165E
G132C
G132C
R142R|G143-
R142R|G143-
L139R
L139R
E114F
E114F
S170T
S170T
A148T
A148T
L140A
L140A
I168D
I168D
I122S
I122S
M134E
M134E
V158G|R159-
V158G|R159-
Y138A
Y138A
C136Q
C136Q
V166I
V166I
R172A
R172A
R161Q
R161Q
A126*
A126*
G143D
G143D
E157T
E157T
A137D
A137D
R172K
R172K
R161T
R161T
D115C
D115C
Y155M
Y155M
R161C
R161C
C136D
C136D
L152F
L152F
H123V
H123V
A151W
A151W
M134N
M134N
Y138L|L139-
Y138L|L139-
A120G
A120G
G132P
G132P
L146Y
L146Y
H118E
H118E
T167H
T167H
I122I|H123-
I122I|H123-
S113H
S113H
S170P
S170P
K128Q
K128Q
F145H
F145H
R142*
R142*
V119N
V119N
C136N
C136N
C124L
C124L
H118-
H118-
H141S
H141S
P169E
P169E
R130S
R130S
V166V
V166V
T167A
T167A
T131P
T131P
A148Q
A148Q
M134I|I135-
M134I|I135-
E150P
E150P
C136P
C136P
V119A
V119A
H141R|R142-
H141R|R142-
T167S
T167S
E150A
E150A
S170K
S170K
G156W
G156W
R159V
R159V
Q149-
Q149-
L152K
L152K
L152A
L152A
H118I
H118I
H141N
H141N
Q171K
Q171K
L152N
L152N
A121E
A121E
G165G
G165G
I135H
I135H
Y138E
Y138E
C124P
C124P
R142V
R142V
G156-
G156-
A151M
A151M
T160M
T160M
T131H
T131H
G143Y
G143Y
V166G
V166G
V158N
V158N
E150K
E150K
V119P
V119P
C124G
C124G
F154V
F154V
L146K
L146K
K128D
K128D
K125T|A126-
K125T|A126-
Q149N
Q149N
L140R
L140R
R142fs
R142fs
N117E
N117E
Y155P
Y155P
S113P
S113P
D116R
D116R
L146W
L146W
Y155W
Y155W
A151H
A151H
H141Q|R142-
H141Q|R142-
L140D
L140D
Q171R|R172-
Q171R|R172-
Y155I
Y155I
A151P
A151P
F145C
F145C
T131Y
T131Y
H61fs
H61fs
V133W
V133W
A148fs
A148fs
V158-
V158-
P169G
P169G
Y138*
Y138*
R159fs
R159fs
R142G
R142G
D116*
D116*
M134fs
M134fs
S113fs
S113fs
L140F
L140F
R159Q
R159Q
T160P
T160P
L146fs
L146fs
K147G
K147G
G129I
G129I
S170A
S170A
L112V
L112V
G127S
G127S
C136C
C136C
Y138*|L139-
Y138*|L139-
L146F
L146F
H118V
H118V
D153Q
D153Q
C124H
C124H
L139K
L139K
Y155W|G156-
Y155W|G156-
A148K
A148K
F154Q
F154Q
K147F
K147F
S170I
S170I
K163-
K163-
D116I
D116I
R130N
R130N
G156P
G156P
I168P
I168P
R159H
R159H
H118F
H118F
R172Y
R172Y
A148N
A148N
K128R|G129-
K128R|G129-
G132Q
G132Q
R130W
R130W
L139G
L139G
D162E|K163-
D162E|K163-
S170C
S170C
E114R
E114R
I168K
I168K
F154L
F154L
F154F|Y155-
F154F|Y155-
A148I
A148I
R172E
R172E
K163*
K163*
L152I
L152I
F145L|L146-
F145L|L146-
P169V
P169V
R142A
R142A
L146L
L146L
D162F
D162F
P89fs
P89fs
L112M
L112M
D115R
D115R
Q171S
Q171S
K147R
K147R
V166W
V166W
T131fs
T131fs
L140C
L140C
P169fs
P169fs
A148F
A148F
Q171L
Q171L
A120P
A120P
R142D
R142D
E150*
E150*
F154R
F154R
F145Y
F145Y
H123L
H123L
Q171I
Q171I
Y138C
Y138C
N117M
N117M
G156G|E157-
G156G|E157-
R159N
R159N
A126S
A126S
T131R
T131R
V158I
V158I
A148W
A148W
F154*
F154*
D116L
D116L
Q149A
Q149A
T131D
T131D
C136H
C136H
G129M
G129M
G132Y
G132Y
L139D
L139D
D162C
D162C
H118Y
H118Y
H123C
H123C
F154K
F154K
V119V
V119V
H141W
H141W
K144N|F145-
K144N|F145-
V133Y
V133Y
R130C
R130C
G165F
G165F
G156V
G156V
G143H
G143H
C136*
C136*
L146T
L146T
D153A
D153A
M134A
M134A
K128F
K128F
K164T
K164T
Q171R
Q171R
K163C
K163C
K125F
K125F
I122W
I122W
G165D
G165D
T160fs
T160fs
F154P
F154P
N117A
N117A
G132A
G132A
P169P
P169P
K147K|A148-
K147K|A148-
E114V
E114V
K125fs
K125fs
R172H
R172H
C136A
C136A
A137K
A137K
S113F
S113F
K147I
K147I
R130A
R130A
L146G
L146G
P169H
P169H
K147T|A148-
K147T|A148-
H123R|C124-
H123R|C124-
H141G
H141G
T160E
T160E
D116C
D116C
C136Y
C136Y
G165A
G165A
R55fs
R55fs
R161K
R161K
D153E
D153E
M134T
M134T
D153H
D153H
Y155S
Y155S
H141D
H141D
F145T
F145T
R142Q
R142Q
A137P
A137P
Y155fs
Y155fs
I122H
I122H
E114S
E114S
V166M
V166M
G143-
G143-
H123P
H123P
V119F
V119F
G156E
G156E
R130K
R130K
D115W
D115W
F154H
F154H
S113R
S113R
T160H
T160H
G132fs
G132fs
H118M
H118M
E114L
E114L
F154C
F154C
K125C
K125C
Q171C
Q171C
A148E
A148E
S170H
S170H
V133R
V133R
E114I
E114I
G132K
G132K
A126M
A126M
D115G
D115G
A137T
A137T
I135K
I135K
L139P
L139P
R161N|D162-
R161N|D162-
L139C
L139C
K128N
K128N
G132S
G132S
G132H
G132H
F154A
F154A
L152W
L152W
V133Q
V133Q
R159S
R159S
G165V
G165V
R130-
R130-
A137D|Y138-
A137D|Y138-
G165fs
G165fs
T167F
T167F
R130H
R130H
D116W
D116W
C136M
C136M
D162E
D162E
I135I|C136-
I135I|C136-
L140E
L140E
V133D
V133D
I135Q
I135Q
K144T
K144T
G127V
G127V
K125Q
K125Q
G127A
G127A
I168T|P169-
I168T|P169-
K144Y
K144Y
R130Y
R130Y
K128M
K128M
H118fs
H118fs
I122fs
I122fs
V119-
V119-
G143fs
G143fs
G127H
G127H
K164W
K164W
L146C
L146C
G127E
G127E
S113Q
S113Q
Q149P
Q149P
I168N
I168N
A148A
A148A
H123H
H123H
R142T
R142T
T160D
T160D
V133*
V133*
L265fs
L265fs
V166*
V166*
G132V
G132V
T167K
T167K
D115S
D115S
T131-
T131-
K144F
K144F
G129V
G129V
F154G
F154G
R161R
R161R
K164K|G165-
K164K|G165-
N117P
N117P
I168V
I168V
M134C
M134C
A121R
A121R
R159R
R159R
T167-
T167-
G132I
G132I
F154I
F154I
I168R
I168R
A151fs
A151fs
I122M
I122M
A126D
A126D
Y138S
Y138S
K128G
K128G
D153V
D153V
G165-
G165-
R161F
R161F
A126G|G127-
A126G|G127-
R159T
R159T
A120V
A120V
L140G
L140G
A120R
A120R
A148M
A148M
T160Q
T160Q
G127T
G127T
C124K
C124K
K125H
K125H
S113R|E114-
S113R|E114-
T160T|R161-
T160T|R161-
A137S
A137S
I122*
I122*
E114E
E114E
G156N
G156N
A121fs
A121fs
L112N
L112N
G156I
G156I
G156A
G156A
L112fs
L112fs
Q149V
Q149V
C136R
C136R
K125L
K125L
K163K|K164-
K163K|K164-
V133S
V133S
G127W
G127W
L152L
L152L
I135Y
I135Y
T160K
T160K
I122T
I122T
D162K
D162K
A126G
A126G
V166L
V166L
V166R
V166R
G127L
G127L
E157D
E157D
L112L|S113-
L112L|S113-
I168A
I168A
A137V
A137V
H123Q
H123Q
S170V
S170V
T160R|R161-
T160R|R161-
A121G
A121G
D116Y
D116Y
K128K|G129-
K128K|G129-
Q149D
Q149D
G129G
G129G
L146P
L146P
V133P
V133P
Q171Y
Q171Y
H141P
H141P
P169Y
P169Y
R161D
R161D
T167P
T167P
S170M
S170M
D153I
D153I
D115Y
D115Y
G127C
G127C
F154Y
F154Y
G143R
G143R
R142S
R142S
S170D
S170D
A151K
A151K
A126N
A126N
A126fs
A126fs
A121*
A121*
V133V|M134-
V133V|M134-
G143C
G143C
Q149fs
Q149fs
H123R
H123R
D116G
D116G
G143A
G143A
D162D
D162D
Y155K
Y155K
M134H
M134H
R130Q
R130Q
E157A
E157A
E114Q
E114Q
A137G
A137G
R159F
R159F
E114M
E114M
I168Q
I168Q
V119Q
V119Q
A137R
A137R
Y155R
Y155R
E157H
E157H
A137E
A137E
E150fs
E150fs
K147N
K147N
V166E
V166E
L140H
L140H
K125P
K125P
D162N
D162N
V166C
V166C
H123N
H123N
T131L
T131L
T131E
T131E
A120K
A120K
S170fs
S170fs
D153D
D153D
R159Y
R159Y
I168Y
I168Y
K128T
K128T
A137H
A137H
E157E
E157E
Y155*|G156-
Y155*|G156-
R172S|R173-
R172S|R173-
K147L
K147L
A151E
A151E
Y138H
Y138H
V166P
V166P
H118H
H118H
Y138T
Y138T
G165H
G165H
I122F
I122F
K144fs
K144fs
L139fs
L139fs
K164D
K164D
E150Q
E150Q
V166A|T167-
V166A|T167-
P169F
P169F
L112Y
L112Y
K144N
K144N
R142I
R142I
Q149S
Q149S
D115D
D115D
H141C
H141C
Q149F
Q149F
G143T
G143T
K128fs
K128fs
Y138I
Y138I
D162L
D162L
L152L|D153-
L152L|D153-
A121V
A121V
K163M
K163M
C124-
C124-
A137W
A137W
K144R
K144R
T167Y
T167Y
R130F
R130F
H118Q
H118Q
E150N
E150N
K6fs
K6fs
L152H
L152H
T160I
T160I
V133fs
V133fs
K144P
K144P
L139N
L139N
G129C
G129C
K125E
K125E
K144L
K144L
Y138L
Y138L
D153F
D153F
K163A
K163A
K125N|A126-
K125N|A126-
F145Q
F145Q
I135C
I135C
I122N
I122N
L140V
L140V
V133N
V133N
R159-
R159-
Q171D
Q171D
K147Y
K147Y
K147T
K147T
G129-
G129-
F145G
F145G
K144Q
K144Q
R130R
R130R
F154E
F154E
V158fs
V158fs
G165T
G165T
G143P
G143P
K144*
K144*
Y155T
Y155T
I135D
I135D
F154D
F154D
K144-
K144-
F145S
F145S
C124D
C124D
L152*
L152*
G156*
G156*
H123E
H123E
L140fs
L140fs
C136V
C136V
L139T
L139T
E150D
E150D
G127M
G127M
G127E|K128-
G127E|K128-
F154S
F154S
L146Q
L146Q
A148*
A148*
I122K
I122K
V119A|A120-
V119A|A120-
A137F
A137F
T167I
T167I
K164L
K164L
N117F
N117F
G156Y
G156Y
K164M
K164M
S113I
S113I
K164F
K164F
H123G
H123G
A120W
A120W
V158H
V158H
R234fs
R234fs
S113K|E114-
S113K|E114-
Y138N
Y138N
K164A
K164A
K164*
K164*
A120I
A120I
K128P
K128P
D162P
D162P
A148Y
A148Y
L139W
L139W
V133L
V133L
A121F
A121F
D116V
D116V
D115Q
D115Q
R130M
R130M
V158V
V158V
V119T
V119T
Q149Q
Q149Q
R159D
R159D
D115D|D116-
D115D|D116-
Y155F
Y155F
P169R
P169R
L152fs
L152fs
A121S
A121S
R159M
R159M
G143*
G143*
K147S
K147S
S113N
S113N
E157K
E157K
V119L
V119L
I168W
I168W
R161P
R161P
H141I
H141I
I168H
I168H
T131G
T131G
G129K
G129K
I135N
I135N
L146S
L146S
I122I
I122I
K144V
K144V
T131S
T131S
M134W
M134W
G156L
G156L
I168C
I168C
I135F
I135F
D162I
D162I
Q171T
Q171T
A137A|Y138-
A137A|Y138-
H118K
H118K
G156H
G156H
E150F
E150F
H141Q
H141Q
V158M
V158M
R159L
R159L
R161N
R161N
Q171fs
Q171fs
L152P
L152P
A148P
A148P
Q171M
Q171M
I135fs
I135fs
R172R
R172R
E114D|D115-
E114D|D115-
K164E
K164E
P169S
P169S
D115F
D115F
K144C
K144C
Single Missense
Cluster 7
Cluster 3
Cluster 5
Cluster 9
Cluster 8
Cluster 10
Synonymous
Cluster 1
Cluster 6
Frameshift
Cluster 2
ASD/DD
3nt Deletion
Cluster 4
gnomAD controls
PHTS
Somatic cancer
ClinVar: LP
Nonsense
ClinVar: P
ClinVar: LB
1.0
10.0
-6
-4
-2
0
Log scale
Intensity MeanIntensity mEGFP-PTEN
Per variant images
Variant Synonymous
Variant Frameshift
Feature: Intensity MeanIntensity pAKT
D115M
G132R
K144W
H123T
V119R
T167E
T131F
K163K
R130E
M134S
A121I
K147C
L139E
G143F
V119S
L146R
V158D
K163E
G156R
H141F
L139H
L139I
F154M
V158Y
K125G
D116N
D153W
D115L
A148R
I135R
D116K
E157L
G165Q
V119I
I135E
A151D
G132N
E114C
Q171N
I168F
D162S
G129L
H141E
E150Y
L152R
L146D
K128C
A121K
D115E
E114G
T160N
Q149M
S170N
C124V
I168T
Q149I
V158F
H141A
K128V
H141K
P169I
Y138M
K128S
K147Q
C136W
K125D
Q149L
K128I
Y138V
I122C
D153Y
S170*
G127D
G165R
L152Y
E114H
L140Q
G129F
A120N
A121T
K144S
F145E
A120Q
L112R
G143N
K144K
C124A
E157M
G129P
H123M
C124S
K147W
A121W
K164N
T160F
D162T
D115H
K164G
V119*
E150I
G156G
E157I
Y138W
K164R
Q149G
V158G
E150G
D116D
T167M
D153L
C124Y
R161W
A120F
I135V
D115*
Y138P
T131T
F145A
H141T
F145D
L112C
N117N
L140S
D153K
L146*
N117Y
D153T
K163F
R142K
V166A
A126F
E150H
H118W
L112*
I122Q
K144M
D116T
V119K
A126W
P169*
I135G
I168*
K128W
A120D
A137Q
N117R
L146V
V119W
D162M
T160Y
Y155Y
I135W
R161I
G129H
N117S
T160C
S113Y
G129W
F154T
I122E
E114D
R161*
V158A
A120C
L146I
L112K
E157P
E157C
L146N
R172G
R172L
G165*
R142L
V158W
D162W
V119H
Q171E
D116M
P169C
L139*
M134*
K147M
K164P
L140K
Q149W
R130T
R172V
A148D
K164S
G156C
K164Y
G143G
D162V
Q171F
D162G
S113D
I135A
I168I
M134F
E157G
N117*
R172F
P169W
Y138Q
G165I
V166S
R172C
V158T
R172M
Q171Q
T131*
R130I
D115A
T160A
T160R
V133C
R161S
P169A
E150V
S170Y
S113S
D162*
G156T
A137A
L140W
T167Q
T167L
R159P
K125W
G143V
A151*
R161L
A151L
Q171W
D115N
I122L
E157S
Y155G
L112F
A126L
R159I
K128K
D115I
K125A
R142N
K128A
R161E
L140M
A151A
G129E
A120L
A151V
A148G
G132E
A126Q
C136F
V158P
D116E
G165C
L140*
Q149K
G165N
H118N
L112Q
G165S
S170E
T160W
K164H
G129*
A148L
T131W
L152S
K128L
D116A
K164V
R161Y
F145V
C124*
K125R
A121Y
F145F
C136S
S113W
I168L
K147H
H118G
R159W
H123D
F145L
L139V
T167C
G132D
A137N
K147D
G143M
Y155A
G132F
N117I
T167N
V133A
Y155H
C124E
I135*
A151S
S170W
D153*
A120S
L152G
N117T
I122R
R142W
A151Q
L152M
L146M
A126I
V166F
E157F
A151C
T167*
P169L
T131I
G129Y
V133V
C124C
R172I
V166K
H118T
L139M
K125Y
R161H
S170Q
L140T
Y155L
G127R
K163S
A126V
A121D
P169Q
E114A
R172*
E114P
T131C
C124T
A120E
V158Q
Y138G
A126A
G165K
A120M
C124I
D116P
Q149H
K144D
H141R
C136E
A121A
K125N
P169K
I135S
P169T
A151R
L140L
D116Q
K125M
K144E
V166Y
D153G
L112I
E157W
I122P
M134Q
D116H
V166Q
S170F
C136K
H123K
L152E
M134L
L112S
C124M
Q171*
M134R
F154W
F145*
D153N
K125K
V158S
K163W
R130D
R159A
D162H
A121H
I135M
Q149T
D162Q
A137L
Q171H
H118D
K125*
E157V
A121C
T167W
S170G
G132T
V133M
T160V
K163T
F154F
Q149Y
D115P
A137Y
E157N
I168E
R130L
H123Y
H123I
Q171G
K164I
A137C
T160G
R130P
G127I
L112L
R161A
A120T
R142F
A126C
R142M
C124R
F145P
D153M
L139Q
K125V
H118R
E150L
K144H
H118P
R172S
A126Y
G127P
G143I
K128R
E114Y
A137I
L146A
L140P
L152D
A148S
F145M
H123W
I135P
G143L
D153P
N117K
Y155C
R159G
Q171P
E114K
L139F
Y155V
D162R
I122Y
H118*
H141H
L112A
T167G
R142E
K163Y
L140I
I168G
I122A
Y155Q
L152Q
R142R
C136G
R142H
C136I
K144I
V158E
L139Y
V133G
T131Q
V133E
A151N
K128E
R161M
V133I
A120Y
K147*
D116F
T131M
K163V
D162A
M134V
L139A
G156D
S113T
G165L
Y138R
V133H
C124F
D153C
V119D
Y155E
L146E
V166D
R172N
G156M
Q149C
C136T
H118L
M134I
V133T
G129Q
G165Y
A151G
G127K
L112D
G165E
G132C
L139R
E114F
S170T
A148T
L140A
I168D
I122S
M134E
Y138A
C136Q
V166I
R172A
R161Q
A126*
G143D
E157T
A137D
R172K
R161T
D115C
Y155M
R161C
C136D
L152F
H123V
A151W
M134N
A120G
G132P
L146Y
H118E
T167H
S113H
S170P
K128Q
F145H
R142*
V119N
C136N
C124L
H141S
P169E
R130S
V166V
T167A
T131P
A148Q
E150P
C136P
V119A
T167S
E150A
S170K
G156W
R159V
L152K
L152A
H118I
H141N
Q171K
L152N
A121E
G165G
I135H
Y138E
C124P
R142V
A151M
T160M
T131H
G143Y
V166G
V158N
E150K
V119P
C124G
F154V
L146K
K128D
Q149N
L140R
N117E
Y155P
S113P
D116R
L146W
Y155W
A151H
L140D
Y155I
A151P
F145C
T131Y
V133W
P169G
Y138*
R142G
D116*
L140F
R159Q
T160P
K147G
G129I
S170A
L112V
G127S
C136C
L146F
H118V
D153Q
C124H
L139K
A148K
F154Q
K147F
S170I
D116I
R130N
G156P
I168P
R159H
H118F
R172Y
A148N
G132Q
R130W
L139G
S170C
E114R
I168K
F154L
A148I
R172E
K163*
L152I
P169V
R142A
L146L
D162F
L112M
D115R
Q171S
K147R
V166W
L140C
A148F
Q171L
A120P
R142D
E150*
F154R
F145Y
H123L
Q171I
Y138C
N117M
R159N
A126S
T131R
V158I
A148W
F154*
D116L
Q149A
T131D
C136H
G129M
G132Y
L139D
D162C
H118Y
H123C
F154K
V119V
H141W
V133Y
R130C
G165F
G156V
G143H
C136*
L146T
D153A
M134A
K128F
K164T
Q171R
K163C
K125F
I122W
G165D
F154P
N117A
G132A
P169P
E114V
R172H
C136A
A137K
S113F
K147I
R130A
L146G
P169H
H141G
T160E
D116C
C136Y
G165A
R161K
D153E
M134T
D153H
Y155S
H141D
F145T
R142Q
A137P
I122H
E114S
V166M
H123P
V119F
G156E
R130K
D115W
F154H
S113R
T160H
H118M
E114L
F154C
K125C
Q171C
A148E
S170H
V133R
E114I
G132K
A126M
D115G
A137T
I135K
L139P
L139C
K128N
G132S
G132H
F154A
L152W
V133Q
R159S
G165V
T167F
R130H
D116W
C136M
D162E
L140E
V133D
I135Q
K144T
G127V
K125Q
G127A
K144Y
R130Y
K128M
G127H
K164W
L146C
G127E
S113Q
Q149P
I168N
A148A
H123H
R142T
T160D
V133*
V166*
G132V
T167K
D115S
K144F
G129V
F154G
R161R
N117P
I168V
M134C
A121R
R159R
G132I
F154I
I168R
I122M
A126D
Y138S
K128G
D153V
R161F
R159T
A120V
L140G
A120R
A148M
T160Q
G127T
C124K
K125H
A137S
I122*
E114E
G156N
L112N
G156I
G156A
Q149V
C136R
K125L
V133S
G127W
L152L
I135Y
T160K
I122T
D162K
A126G
V166L
V166R
G127L
E157D
I168A
A137V
H123Q
S170V
A121G
D116Y
Q149D
G129G
L146P
V133P
Q171Y
H141P
P169Y
R161D
T167P
S170M
D153I
D115Y
G127C
F154Y
G143R
R142S
S170D
A151K
A126N
A121*
G143C
H123R
D116G
G143A
D162D
Y155K
M134H
R130Q
E157A
E114Q
A137G
R159F
E114M
I168Q
V119Q
A137R
Y155R
E157H
A137E
K147N
V166E
L140H
K125P
D162N
V166C
H123N
T131L
T131E
A120K
D153D
R159Y
I168Y
K128T
A137H
E157E
K147L
A151E
Y138H
V166P
H118H
Y138T
G165H
I122F
K164D
E150Q
P169F
L112Y
K144N
R142I
Q149S
D115D
H141C
Q149F
G143T
Y138I
D162L
A121V
K163M
A137W
K144R
T167Y
R130F
H118Q
E150N
L152H
T160I
K144P
L139N
G129C
K125E
K144L
Y138L
D153F
K163A
F145Q
I135C
I122N
L140V
V133N
Q171D
K147Y
K147T
F145G
K144Q
R130R
F154E
G165T
G143P
K144*
Y155T
I135D
F154D
F145S
C124D
L152*
G156*
H123E
C136V
L139T
E150D
G127M
F154S
L146Q
A148*
I122K
A137F
T167I
K164L
N117F
G156Y
K164M
S113I
K164F
H123G
A120W
V158H
Y138N
K164A
K164*
A120I
K128P
D162P
A148Y
L139W
V133L
A121F
D116V
D115Q
R130M
V158V
V119T
Q149Q
R159D
Y155F
P169R
A121S
R159M
G143*
K147S
S113N
E157K
V119L
I168W
R161P
H141I
I168H
T131G
G129K
I135N
L146S
I122I
K144V
T131S
M134W
G156L
I168C
I135F
D162I
Q171T
H118K
G156H
E150F
H141Q
V158M
R159L
R161N
L152P
A148P
Q171M
R172R
K164E
P169S
D115F
K144C
115
120
125
130
135
140
145
150
155
160
165
170
A
V
I
L
G
F
Y
W
C
M
P
S
T
N
Q
D
E
H
K
R
*
-9
-6
-3
0
3
6
9
External link
D115M
D115M
G132R
G132R
K144W
K144W
H123T
H123T
V119R
V119R
T167E
T167E
T131F
T131F
K163K
K163K
R130E
R130E
M134S
M134S
A121I
A121I
K147C
K147C
L139E
L139E
G143F
G143F
V119S
V119S
E157fs
E157fs
L146R
L146R
V158D
V158D
K163E
K163E
G156R
G156R
H141F
H141F
F145-
F145-
L139H
L139H
L139I
L139I
F154M
F154M
V158Y
V158Y
K125G
K125G
G156fs
G156fs
D116N
D116N
D153W
D153W
D115L
D115L
A148R
A148R
R173fs
R173fs
I135R
I135R
D116K
D116K
E157L
E157L
G165Q
G165Q
P169P|S170-
P169P|S170-
K147fs
K147fs
V119I
V119I
I135E
I135E
A151D
A151D
G132N
G132N
E114C
E114C
Q171N
Q171N
I168F
I168F
D162S
D162S
G129L
G129L
H141E
H141E
E150Y
E150Y
L152R
L152R
L146D
L146D
K128C
K128C
A121K
A121K
D115E
D115E
E114G
E114G
T160N
T160N
Q149M
Q149M
S170N
S170N
C124V
C124V
I168T
I168T
Q149I
Q149I
V158F
V158F
H141A
H141A
K128V
K128V
H141K
H141K
P169I
P169I
Y138M
Y138M
K128S
K128S
K147Q
K147Q
C136W
C136W
K125D
K125D
D162-
D162-
Q149L
Q149L
K128I
K128I
S170K|Q171-
S170K|Q171-
E157V|V158-
E157V|V158-
Y138V
Y138V
I122C
I122C
D153Y
D153Y
S170*
S170*
G127D
G127D
G165R
G165R
E288fs
E288fs
L152Y
L152Y
E114H
E114H
K128-
K128-
L140Q
L140Q
W111fs
W111fs
G129F
G129F
A120N
A120N
A121T
A121T
K144S
K144S
G143G|K144-
G143G|K144-
F145E
F145E
A120Q
A120Q
L112R
L112R
G143N
G143N
K144K
K144K
C124A
C124A
E157M
E157M
G129P
G129P
H123M
H123M
C124S
C124S
F154Y|Y155-
F154Y|Y155-
K147W
K147W
A121W
A121W
P169-
P169-
K164N
K164N
T160F
T160F
D162T
D162T
D115H
D115H
G132V|V133-
G132V|V133-
K164G
K164G
V119*
V119*
E150I
E150I
G156G
G156G
T167fs
T167fs
E157I
E157I
Y138W
Y138W
K164R
K164R
Q149G
Q149G
L140-
L140-
V158G
V158G
E150G
E150G
D116D
D116D
T167M
T167M
D153L
D153L
C124Y
C124Y
R161W
R161W
A120F
A120F
I135V
I135V
D115*
D115*
Y138P
Y138P
T131T
T131T
F145A
F145A
H141T
H141T
F145D
F145D
L112C
L112C
N117N
N117N
R172-
R172-
L140S
L140S
D153K
D153K
L146*
L146*
N117Y
N117Y
D153T
D153T
K163F
K163F
R142K
R142K
V166A
V166A
A126F
A126F
E150H
E150H
H118W
H118W
L112*
L112*
H141-
H141-
I122Q
I122Q
K144M
K144M
D116T
D116T
V119K
V119K
A126W
A126W
P169*
P169*
I135G
I135G
I168*
I168*
K128W
K128W
A120D
A120D
A137Q
A137Q
N117R
N117R
R159S|T160-
R159S|T160-
L146V
L146V
V119W
V119W
D162M
D162M
T160Y
T160Y
Y155Y
Y155Y
I135W
I135W
D162fs
D162fs
R161I
R161I
G129H
G129H
T348fs
T348fs
N117S
N117S
I122-
I122-
P169R|S170-
P169R|S170-
T160C
T160C
A121-
A121-
S113Y
S113Y
G129W
G129W
F154T
F154T
I122E
I122E
E114D
E114D
R161*
R161*
V158A
V158A
A120C
A120C
L146I
L146I
C124*|K125-
C124*|K125-
A151V|L152-
A151V|L152-
F145fs
F145fs
L112K
L112K
E157P
E157P
E157C
E157C
L146N
L146N
R172G
R172G
R172L
R172L
G165*
G165*
R142L
R142L
V158W
V158W
D162W
D162W
V119H
V119H
Q171E
Q171E
D116M
D116M
P169C
P169C
L139*
L139*
M134*
M134*
S170R|Q171-
S170R|Q171-
K147M
K147M
K164P
K164P
C136S|A137-
C136S|A137-
L140K
L140K
Q149W
Q149W
R130T
R130T
R172V
R172V
R161S|D162-
R161S|D162-
A148D
A148D
K164S
K164S
G156C
G156C
K164Y
K164Y
G143G
G143G
D162V
D162V
Q171F
Q171F
D162G
D162G
S113D
S113D
I135A
I135A
I168I
I168I
M134F
M134F
G127G|K128-
G127G|K128-
E157G
E157G
N117*
N117*
R172F
R172F
P169W
P169W
Y138Q
Y138Q
G165I
G165I
V166S
V166S
R172C
R172C
V158T
V158T
A151A|L152-
A151A|L152-
R172M
R172M
Q171Q
Q171Q
T131*
T131*
R130I
R130I
D115A
D115A
V166fs
V166fs
T160A
T160A
T160R
T160R
V133C
V133C
R161S
R161S
P169A
P169A
E150V
E150V
S170Y
S170Y
S113S
S113S
D162*
D162*
G156T
G156T
E114-
E114-
A137A
A137A
L140W
L140W
T167Q
T167Q
T167L
T167L
R159P
R159P
K125W
K125W
F56fs
F56fs
Y174fs
Y174fs
G143V
G143V
A151*
A151*
R161L
R161L
A151L
A151L
Q171W
Q171W
D115N
D115N
I122L
I122L
E157S
E157S
Y155G
Y155G
L112F
L112F
A126L
A126L
R159I
R159I
K128K
K128K
D115I
D115I
K125A
K125A
R142N
R142N
K128A
K128A
R161E
R161E
L140M
L140M
A151A
A151A
G129E
G129E
A120L
A120L
A151V
A151V
A148G
A148G
A126A|G127-
A126A|G127-
G132E
G132E
A126Q
A126Q
C136F
C136F
S170-
S170-
V158P
V158P
D116E
D116E
G165C
G165C
R130fs
R130fs
L140*
L140*
Q149K
Q149K
G165N
G165N
H118N
H118N
L112Q
L112Q
G165S
G165S
S170E
S170E
T160W
T160W
K164H
K164H
G129*
G129*
A148L
A148L
T131W
T131W
L152S
L152S
K128L
K128L
A126-
A126-
D116A
D116A
K164V
K164V
R161Y
R161Y
F145V
F145V
C124*
C124*
K125R
K125R
A121Y
A121Y
F145F
F145F
C136S
C136S
S113W
S113W
I168L
I168L
K147H
K147H
H118G
H118G
R159W
R159W
H123D
H123D
D153-
D153-
F145L
F145L
L139V
L139V
T167C
T167C
G132D
G132D
A137N
A137N
K147D
K147D
G143M
G143M
Y155A
Y155A
G132F
G132F
A137-
A137-
D116D|N117-
D116D|N117-
N117I
N117I
T167N
T167N
V133A
V133A
Y155H
Y155H
C124E
C124E
H123H|C124-
H123H|C124-
I135*
I135*
A151S
A151S
S170W
S170W
D153*
D153*
A120S
A120S
L152G
L152G
N117T
N117T
I122R
I122R
R142W
R142W
A151Q
A151Q
L152M
L152M
L146M
L146M
A126I
A126I
V166F
V166F
G132-
G132-
E157F
E157F
A151C
A151C
T167*
T167*
Q149Q|E150-
Q149Q|E150-
P169L
P169L
T131I
T131I
G129Y
G129Y
V133V
V133V
C124C
C124C
R172I
R172I
V166K
V166K
H118T
H118T
L139M
L139M
K125Y
K125Y
R161H
R161H
S170Q
S170Q
L140T
L140T
Y155L
Y155L
G127R
G127R
K163S
K163S
A126V
A126V
A121D
A121D
P169Q
P169Q
E114A
E114A
R172*
R172*
E114P
E114P
T131C
T131C
C124T
C124T
A120E
A120E
V158Q
V158Q
Y138G
Y138G
A126A
A126A
G165K
G165K
A120M
A120M
C124I
C124I
D116P
D116P
Q149H
Q149H
K144D
K144D
H141R
H141R
C136E
C136E
A121A
A121A
K125N
K125N
P169K
P169K
I135S
I135S
P169T
P169T
A151R
A151R
L140L
L140L
D116Q
D116Q
K125M
K125M
K144E
K144E
V166Y
V166Y
D153G
D153G
L112I
L112I
E157W
E157W
I122P
I122P
M134Q
M134Q
D116H
D116H
C136-
C136-
A120fs
A120fs
V166Q
V166Q
S170F
S170F
C136K
C136K
H123K
H123K
L152E
L152E
M134L
M134L
L112S
L112S
C124M
C124M
H141fs
H141fs
Q171*
Q171*
I168-
I168-
M134R
M134R
F154W
F154W
F145*
F145*
D153N
D153N
K125K
K125K
V158S
V158S
Q171-
Q171-
K163W
K163W
R130D
R130D
C136fs
C136fs
R159A
R159A
I122N|H123-
I122N|H123-
D162H
D162H
A121H
A121H
I135M
I135M
Q149T
Q149T
D162Q
D162Q
A137L
A137L
Q171H
Q171H
H118D
H118D
K125*
K125*
R172fs
R172fs
E157V
E157V
A121C
A121C
T167W
T167W
K164fs
K164fs
S170G
S170G
G132T
G132T
V133M
V133M
T160V
T160V
F154-
F154-
K163T
K163T
F154F
F154F
Q149Y
Q149Y
D115P
D115P
E150D|A151-
E150D|A151-
A137Y
A137Y
E157N
E157N
I168E
I168E
R130L
R130L
H123Y
H123Y
T131S|G132-
T131S|G132-
H123I
H123I
G156E|E157-
G156E|E157-
G127fs
G127fs
V166-
V166-
Q171G
Q171G
K164I
K164I
A137C
A137C
T160G
T160G
L152H|D153-
L152H|D153-
T167I|I168-
T167I|I168-
R130P
R130P
K125-
K125-
G127I
G127I
I168fs
I168fs
L112L
L112L
R161A
R161A
A120T
A120T
R142F
R142F
A126C
A126C
R142M
R142M
C124R
C124R
F145P
F145P
D153M
D153M
L139Q
L139Q
K125V
K125V
H118R
H118R
E150L
E150L
K144H
K144H
H118P
H118P
R172S
R172S
A126Y
A126Y
G127P
G127P
G143I
G143I
K128R
K128R
E114Y
E114Y
R159T|T160-
R159T|T160-
A137I
A137I
L146A
L146A
L140P
L140P
L152D
L152D
A148S
A148S
M134-
M134-
F145M
F145M
H123W
H123W
F154fs
F154fs
I135P
I135P
G143L
G143L
D153P
D153P
N117K
N117K
Y155C
Y155C
R159G
R159G
Q171P
Q171P
E114K
E114K
L139F
L139F
Y155V
Y155V
L146L|K147-
L146L|K147-
D162R
D162R
I122Y
I122Y
H118*
H118*
H141H
H141H
L112A
L112A
T167G
T167G
R142E
R142E
K163Y
K163Y
L140I
L140I
I168G
I168G
I122A
I122A
K144I|F145-
K144I|F145-
Y155Q
Y155Q
L152Q
L152Q
R142R
R142R
C136G
C136G
R142H
R142H
C136I
C136I
K144I
K144I
V158E
V158E
L139Y
L139Y
V133G
V133G
D153fs
D153fs
T131Q
T131Q
V133E
V133E
A151N
A151N
K128E
K128E
R161M
R161M
V133I
V133I
A120Y
A120Y
K147*
K147*
D116F
D116F
T131M
T131M
K163V
K163V
D162A
D162A
M134V
M134V
L139A
L139A
G156D
G156D
S113T
S113T
G165L
G165L
T321fs
T321fs
Y138R
Y138R
C136*|A137-
C136*|A137-
V133H
V133H
C124F
C124F
D153C
D153C
V119D
V119D
Y155E
Y155E
L146E
L146E
R161fs
R161fs
V166D
V166D
R172N
R172N
G156M
G156M
G165V|V166-
G165V|V166-
Q149C
Q149C
C136T
C136T
H118L
H118L
M134I
M134I
V133T
V133T
G129Q
G129Q
G165Y
G165Y
A151G
A151G
G127K
G127K
L112D
L112D
G165E
G165E
G132C
G132C
R142R|G143-
R142R|G143-
L139R
L139R
E114F
E114F
S170T
S170T
A148T
A148T
L140A
L140A
I168D
I168D
I122S
I122S
M134E
M134E
V158G|R159-
V158G|R159-
Y138A
Y138A
C136Q
C136Q
V166I
V166I
R172A
R172A
R161Q
R161Q
A126*
A126*
G143D
G143D
E157T
E157T
A137D
A137D
R172K
R172K
R161T
R161T
D115C
D115C
Y155M
Y155M
R161C
R161C
C136D
C136D
L152F
L152F
H123V
H123V
A151W
A151W
M134N
M134N
Y138L|L139-
Y138L|L139-
A120G
A120G
G132P
G132P
L146Y
L146Y
H118E
H118E
T167H
T167H
I122I|H123-
I122I|H123-
S113H
S113H
S170P
S170P
K128Q
K128Q
F145H
F145H
R142*
R142*
V119N
V119N
C136N
C136N
C124L
C124L
H118-
H118-
H141S
H141S
P169E
P169E
R130S
R130S
V166V
V166V
T167A
T167A
T131P
T131P
A148Q
A148Q
M134I|I135-
M134I|I135-
E150P
E150P
C136P
C136P
V119A
V119A
H141R|R142-
H141R|R142-
T167S
T167S
E150A
E150A
S170K
S170K
G156W
G156W
R159V
R159V
Q149-
Q149-
L152K
L152K
L152A
L152A
H118I
H118I
H141N
H141N
Q171K
Q171K
L152N
L152N
A121E
A121E
G165G
G165G
I135H
I135H
Y138E
Y138E
C124P
C124P
R142V
R142V
G156-
G156-
A151M
A151M
T160M
T160M
T131H
T131H
G143Y
G143Y
V166G
V166G
V158N
V158N
E150K
E150K
V119P
V119P
C124G
C124G
F154V
F154V
L146K
L146K
K128D
K128D
K125T|A126-
K125T|A126-
Q149N
Q149N
L140R
L140R
R142fs
R142fs
N117E
N117E
Y155P
Y155P
S113P
S113P
D116R
D116R
L146W
L146W
Y155W
Y155W
A151H
A151H
H141Q|R142-
H141Q|R142-
L140D
L140D
Q171R|R172-
Q171R|R172-
Y155I
Y155I
A151P
A151P
F145C
F145C
T131Y
T131Y
H61fs
H61fs
V133W
V133W
A148fs
A148fs
V158-
V158-
P169G
P169G
Y138*
Y138*
R159fs
R159fs
R142G
R142G
D116*
D116*
M134fs
M134fs
S113fs
S113fs
L140F
L140F
R159Q
R159Q
T160P
T160P
L146fs
L146fs
K147G
K147G
G129I
G129I
S170A
S170A
L112V
L112V
G127S
G127S
C136C
C136C
Y138*|L139-
Y138*|L139-
L146F
L146F
H118V
H118V
D153Q
D153Q
C124H
C124H
L139K
L139K
Y155W|G156-
Y155W|G156-
A148K
A148K
F154Q
F154Q
K147F
K147F
S170I
S170I
K163-
K163-
D116I
D116I
R130N
R130N
G156P
G156P
I168P
I168P
R159H
R159H
H118F
H118F
R172Y
R172Y
A148N
A148N
K128R|G129-
K128R|G129-
G132Q
G132Q
R130W
R130W
L139G
L139G
D162E|K163-
D162E|K163-
S170C
S170C
E114R
E114R
I168K
I168K
F154L
F154L
F154F|Y155-
F154F|Y155-
A148I
A148I
R172E
R172E
K163*
K163*
L152I
L152I
F145L|L146-
F145L|L146-
P169V
P169V
R142A
R142A
L146L
L146L
D162F
D162F
P89fs
P89fs
L112M
L112M
D115R
D115R
Q171S
Q171S
K147R
K147R
V166W
V166W
T131fs
T131fs
L140C
L140C
P169fs
P169fs
A148F
A148F
Q171L
Q171L
A120P
A120P
R142D
R142D
E150*
E150*
F154R
F154R
F145Y
F145Y
H123L
H123L
Q171I
Q171I
Y138C
Y138C
N117M
N117M
G156G|E157-
G156G|E157-
R159N
R159N
A126S
A126S
T131R
T131R
V158I
V158I
A148W
A148W
F154*
F154*
D116L
D116L
Q149A
Q149A
T131D
T131D
C136H
C136H
G129M
G129M
G132Y
G132Y
L139D
L139D
D162C
D162C
H118Y
H118Y
H123C
H123C
F154K
F154K
V119V
V119V
H141W
H141W
K144N|F145-
K144N|F145-
V133Y
V133Y
R130C
R130C
G165F
G165F
G156V
G156V
G143H
G143H
C136*
C136*
L146T
L146T
D153A
D153A
M134A
M134A
K128F
K128F
K164T
K164T
Q171R
Q171R
K163C
K163C
K125F
K125F
I122W
I122W
G165D
G165D
T160fs
T160fs
F154P
F154P
N117A
N117A
G132A
G132A
P169P
P169P
K147K|A148-
K147K|A148-
E114V
E114V
K125fs
K125fs
R172H
R172H
C136A
C136A
A137K
A137K
S113F
S113F
K147I
K147I
R130A
R130A
L146G
L146G
P169H
P169H
K147T|A148-
K147T|A148-
H123R|C124-
H123R|C124-
H141G
H141G
T160E
T160E
D116C
D116C
C136Y
C136Y
G165A
G165A
R55fs
R55fs
R161K
R161K
D153E
D153E
M134T
M134T
D153H
D153H
Y155S
Y155S
H141D
H141D
F145T
F145T
R142Q
R142Q
A137P
A137P
Y155fs
Y155fs
I122H
I122H
E114S
E114S
V166M
V166M
G143-
G143-
H123P
H123P
V119F
V119F
G156E
G156E
R130K
R130K
D115W
D115W
F154H
F154H
S113R
S113R
T160H
T160H
G132fs
G132fs
H118M
H118M
E114L
E114L
F154C
F154C
K125C
K125C
Q171C
Q171C
A148E
A148E
S170H
S170H
V133R
V133R
E114I
E114I
G132K
G132K
A126M
A126M
D115G
D115G
A137T
A137T
I135K
I135K
L139P
L139P
R161N|D162-
R161N|D162-
L139C
L139C
K128N
K128N
G132S
G132S
G132H
G132H
F154A
F154A
L152W
L152W
V133Q
V133Q
R159S
R159S
G165V
G165V
R130-
R130-
A137D|Y138-
A137D|Y138-
G165fs
G165fs
T167F
T167F
R130H
R130H
D116W
D116W
C136M
C136M
D162E
D162E
I135I|C136-
I135I|C136-
L140E
L140E
V133D
V133D
I135Q
I135Q
K144T
K144T
G127V
G127V
K125Q
K125Q
G127A
G127A
I168T|P169-
I168T|P169-
K144Y
K144Y
R130Y
R130Y
K128M
K128M
H118fs
H118fs
I122fs
I122fs
V119-
V119-
G143fs
G143fs
G127H
G127H
K164W
K164W
L146C
L146C
G127E
G127E
S113Q
S113Q
Q149P
Q149P
I168N
I168N
A148A
A148A
H123H
H123H
R142T
R142T
T160D
T160D
V133*
V133*
L265fs
L265fs
V166*
V166*
G132V
G132V
T167K
T167K
D115S
D115S
T131-
T131-
K144F
K144F
G129V
G129V
F154G
F154G
R161R
R161R
K164K|G165-
K164K|G165-
N117P
N117P
I168V
I168V
M134C
M134C
A121R
A121R
R159R
R159R
T167-
T167-
G132I
G132I
F154I
F154I
I168R
I168R
A151fs
A151fs
I122M
I122M
A126D
A126D
Y138S
Y138S
K128G
K128G
D153V
D153V
G165-
G165-
R161F
R161F
A126G|G127-
A126G|G127-
R159T
R159T
A120V
A120V
L140G
L140G
A120R
A120R
A148M
A148M
T160Q
T160Q
G127T
G127T
C124K
C124K
K125H
K125H
S113R|E114-
S113R|E114-
T160T|R161-
T160T|R161-
A137S
A137S
I122*
I122*
E114E
E114E
G156N
G156N
A121fs
A121fs
L112N
L112N
G156I
G156I
G156A
G156A
L112fs
L112fs
Q149V
Q149V
C136R
C136R
K125L
K125L
K163K|K164-
K163K|K164-
V133S
V133S
G127W
G127W
L152L
L152L
I135Y
I135Y
T160K
T160K
I122T
I122T
D162K
D162K
A126G
A126G
V166L
V166L
V166R
V166R
G127L
G127L
E157D
E157D
L112L|S113-
L112L|S113-
I168A
I168A
A137V
A137V
H123Q
H123Q
S170V
S170V
T160R|R161-
T160R|R161-
A121G
A121G
D116Y
D116Y
K128K|G129-
K128K|G129-
Q149D
Q149D
G129G
G129G
L146P
L146P
V133P
V133P
Q171Y
Q171Y
H141P
H141P
P169Y
P169Y
R161D
R161D
T167P
T167P
S170M
S170M
D153I
D153I
D115Y
D115Y
G127C
G127C
F154Y
F154Y
G143R
G143R
R142S
R142S
S170D
S170D
A151K
A151K
A126N
A126N
A126fs
A126fs
A121*
A121*
V133V|M134-
V133V|M134-
G143C
G143C
Q149fs
Q149fs
H123R
H123R
D116G
D116G
G143A
G143A
D162D
D162D
Y155K
Y155K
M134H
M134H
R130Q
R130Q
E157A
E157A
E114Q
E114Q
A137G
A137G
R159F
R159F
E114M
E114M
I168Q
I168Q
V119Q
V119Q
A137R
A137R
Y155R
Y155R
E157H
E157H
A137E
A137E
E150fs
E150fs
K147N
K147N
V166E
V166E
L140H
L140H
K125P
K125P
D162N
D162N
V166C
V166C
H123N
H123N
T131L
T131L
T131E
T131E
A120K
A120K
S170fs
S170fs
D153D
D153D
R159Y
R159Y
I168Y
I168Y
K128T
K128T
A137H
A137H
E157E
E157E
Y155*|G156-
Y155*|G156-
R172S|R173-
R172S|R173-
K147L
K147L
A151E
A151E
Y138H
Y138H
V166P
V166P
H118H
H118H
Y138T
Y138T
G165H
G165H
I122F
I122F
K144fs
K144fs
L139fs
L139fs
K164D
K164D
E150Q
E150Q
V166A|T167-
V166A|T167-
P169F
P169F
L112Y
L112Y
K144N
K144N
R142I
R142I
Q149S
Q149S
D115D
D115D
H141C
H141C
Q149F
Q149F
G143T
G143T
K128fs
K128fs
Y138I
Y138I
D162L
D162L
L152L|D153-
L152L|D153-
A121V
A121V
K163M
K163M
C124-
C124-
A137W
A137W
K144R
K144R
T167Y
T167Y
R130F
R130F
H118Q
H118Q
E150N
E150N
K6fs
K6fs
L152H
L152H
T160I
T160I
V133fs
V133fs
K144P
K144P
L139N
L139N
G129C
G129C
K125E
K125E
K144L
K144L
Y138L
Y138L
D153F
D153F
K163A
K163A
K125N|A126-
K125N|A126-
F145Q
F145Q
I135C
I135C
I122N
I122N
L140V
L140V
V133N
V133N
R159-
R159-
Q171D
Q171D
K147Y
K147Y
K147T
K147T
G129-
G129-
F145G
F145G
K144Q
K144Q
R130R
R130R
F154E
F154E
V158fs
V158fs
G165T
G165T
G143P
G143P
K144*
K144*
Y155T
Y155T
I135D
I135D
F154D
F154D
K144-
K144-
F145S
F145S
C124D
C124D
L152*
L152*
G156*
G156*
H123E
H123E
L140fs
L140fs
C136V
C136V
L139T
L139T
E150D
E150D
G127M
G127M
G127E|K128-
G127E|K128-
F154S
F154S
L146Q
L146Q
A148*
A148*
I122K
I122K
V119A|A120-
V119A|A120-
A137F
A137F
T167I
T167I
K164L
K164L
N117F
N117F
G156Y
G156Y
K164M
K164M
S113I
S113I
K164F
K164F
H123G
H123G
A120W
A120W
V158H
V158H
R234fs
R234fs
S113K|E114-
S113K|E114-
Y138N
Y138N
K164A
K164A
K164*
K164*
A120I
A120I
K128P
K128P
D162P
D162P
A148Y
A148Y
L139W
L139W
V133L
V133L
A121F
A121F
D116V
D116V
D115Q
D115Q
R130M
R130M
V158V
V158V
V119T
V119T
Q149Q
Q149Q
R159D
R159D
D115D|D116-
D115D|D116-
Y155F
Y155F
P169R
P169R
L152fs
L152fs
A121S
A121S
R159M
R159M
G143*
G143*
K147S
K147S
S113N
S113N
E157K
E157K
V119L
V119L
I168W
I168W
R161P
R161P
H141I
H141I
I168H
I168H
T131G
T131G
G129K
G129K
I135N
I135N
L146S
L146S
I122I
I122I
K144V
K144V
T131S
T131S
M134W
M134W
G156L
G156L
I168C
I168C
I135F
I135F
D162I
D162I
Q171T
Q171T
A137A|Y138-
A137A|Y138-
H118K
H118K
G156H
G156H
E150F
E150F
H141Q
H141Q
V158M
V158M
R159L
R159L
R161N
R161N
Q171fs
Q171fs
L152P
L152P
A148P
A148P
Q171M
Q171M
I135fs
I135fs
R172R
R172R
E114D|D115-
E114D|D115-
K164E
K164E
P169S
P169S
D115F
D115F
K144C
K144C
Single Missense
Cluster 7
Cluster 3
Cluster 5
Cluster 9
Cluster 8
Cluster 10
Synonymous
Cluster 1
Cluster 6
Frameshift
Cluster 2
ASD/DD
3nt Deletion
Cluster 4
gnomAD controls
PHTS
Somatic cancer
ClinVar: LP
Nonsense
ClinVar: P
ClinVar: LB
0
50
100
150
200
0
3
6
9
12
15
External link
D115M
D115M
G132R
G132R
K144W
K144W
H123T
H123T
V119R
V119R
T167E
T167E
T131F
T131F
K163K
K163K
R130E
R130E
M134S
M134S
A121I
A121I
K147C
K147C
L139E
L139E
G143F
G143F
V119S
V119S
E157fs
E157fs
L146R
L146R
V158D
V158D
K163E
K163E
G156R
G156R
H141F
H141F
F145-
F145-
L139H
L139H
L139I
L139I
F154M
F154M
V158Y
V158Y
K125G
K125G
G156fs
G156fs
D116N
D116N
D153W
D153W
D115L
D115L
A148R
A148R
R173fs
R173fs
I135R
I135R
D116K
D116K
E157L
E157L
G165Q
G165Q
P169P|S170-
P169P|S170-
K147fs
K147fs
V119I
V119I
I135E
I135E
A151D
A151D
G132N
G132N
E114C
E114C
Q171N
Q171N
I168F
I168F
D162S
D162S
G129L
G129L
H141E
H141E
E150Y
E150Y
L152R
L152R
L146D
L146D
K128C
K128C
A121K
A121K
D115E
D115E
E114G
E114G
T160N
T160N
Q149M
Q149M
S170N
S170N
C124V
C124V
I168T
I168T
Q149I
Q149I
V158F
V158F
H141A
H141A
K128V
K128V
H141K
H141K
P169I
P169I
Y138M
Y138M
K128S
K128S
K147Q
K147Q
C136W
C136W
K125D
K125D
D162-
D162-
Q149L
Q149L
K128I
K128I
S170K|Q171-
S170K|Q171-
E157V|V158-
E157V|V158-
Y138V
Y138V
I122C
I122C
D153Y
D153Y
S170*
S170*
G127D
G127D
G165R
G165R
E288fs
E288fs
L152Y
L152Y
E114H
E114H
K128-
K128-
L140Q
L140Q
W111fs
W111fs
G129F
G129F
A120N
A120N
A121T
A121T
K144S
K144S
G143G|K144-
G143G|K144-
F145E
F145E
A120Q
A120Q
L112R
L112R
G143N
G143N
K144K
K144K
C124A
C124A
E157M
E157M
G129P
G129P
H123M
H123M
C124S
C124S
F154Y|Y155-
F154Y|Y155-
K147W
K147W
A121W
A121W
P169-
P169-
K164N
K164N
T160F
T160F
D162T
D162T
D115H
D115H
G132V|V133-
G132V|V133-
K164G
K164G
V119*
V119*
E150I
E150I
G156G
G156G
T167fs
T167fs
E157I
E157I
Y138W
Y138W
K164R
K164R
Q149G
Q149G
L140-
L140-
V158G
V158G
E150G
E150G
D116D
D116D
T167M
T167M
D153L
D153L
C124Y
C124Y
R161W
R161W
A120F
A120F
I135V
I135V
D115*
D115*
Y138P
Y138P
T131T
T131T
F145A
F145A
H141T
H141T
F145D
F145D
L112C
L112C
N117N
N117N
R172-
R172-
L140S
L140S
D153K
D153K
L146*
L146*
N117Y
N117Y
D153T
D153T
K163F
K163F
R142K
R142K
V166A
V166A
A126F
A126F
E150H
E150H
H118W
H118W
L112*
L112*
H141-
H141-
I122Q
I122Q
K144M
K144M
D116T
D116T
V119K
V119K
A126W
A126W
P169*
P169*
I135G
I135G
I168*
I168*
K128W
K128W
A120D
A120D
A137Q
A137Q
N117R
N117R
R159S|T160-
R159S|T160-
L146V
L146V
V119W
V119W
D162M
D162M
T160Y
T160Y
Y155Y
Y155Y
I135W
I135W
D162fs
D162fs
R161I
R161I
G129H
G129H
T348fs
T348fs
N117S
N117S
I122-
I122-
P169R|S170-
P169R|S170-
T160C
T160C
A121-
A121-
S113Y
S113Y
G129W
G129W
F154T
F154T
I122E
I122E
E114D
E114D
R161*
R161*
V158A
V158A
A120C
A120C
L146I
L146I
C124*|K125-
C124*|K125-
A151V|L152-
A151V|L152-
F145fs
F145fs
L112K
L112K
E157P
E157P
E157C
E157C
L146N
L146N
R172G
R172G
R172L
R172L
G165*
G165*
R142L
R142L
V158W
V158W
D162W
D162W
V119H
V119H
Q171E
Q171E
D116M
D116M
P169C
P169C
L139*
L139*
M134*
M134*
S170R|Q171-
S170R|Q171-
K147M
K147M
K164P
K164P
C136S|A137-
C136S|A137-
L140K
L140K
Q149W
Q149W
R130T
R130T
R172V
R172V
R161S|D162-
R161S|D162-
A148D
A148D
K164S
K164S
G156C
G156C
K164Y
K164Y
G143G
G143G
D162V
D162V
Q171F
Q171F
D162G
D162G
S113D
S113D
I135A
I135A
I168I
I168I
M134F
M134F
G127G|K128-
G127G|K128-
E157G
E157G
N117*
N117*
R172F
R172F
P169W
P169W
Y138Q
Y138Q
G165I
G165I
V166S
V166S
R172C
R172C
V158T
V158T
A151A|L152-
A151A|L152-
R172M
R172M
Q171Q
Q171Q
T131*
T131*
R130I
R130I
D115A
D115A
V166fs
V166fs
T160A
T160A
T160R
T160R
V133C
V133C
R161S
R161S
P169A
P169A
E150V
E150V
S170Y
S170Y
S113S
S113S
D162*
D162*
G156T
G156T
E114-
E114-
A137A
A137A
L140W
L140W
T167Q
T167Q
T167L
T167L
R159P
R159P
K125W
K125W
F56fs
F56fs
Y174fs
Y174fs
G143V
G143V
A151*
A151*
R161L
R161L
A151L
A151L
Q171W
Q171W
D115N
D115N
I122L
I122L
E157S
E157S
Y155G
Y155G
L112F
L112F
A126L
A126L
R159I
R159I
K128K
K128K
D115I
D115I
K125A
K125A
R142N
R142N
K128A
K128A
R161E
R161E
L140M
L140M
A151A
A151A
G129E
G129E
A120L
A120L
A151V
A151V
A148G
A148G
A126A|G127-
A126A|G127-
G132E
G132E
A126Q
A126Q
C136F
C136F
S170-
S170-
V158P
V158P
D116E
D116E
G165C
G165C
R130fs
R130fs
L140*
L140*
Q149K
Q149K
G165N
G165N
H118N
H118N
L112Q
L112Q
G165S
G165S
S170E
S170E
T160W
T160W
K164H
K164H
G129*
G129*
A148L
A148L
T131W
T131W
L152S
L152S
K128L
K128L
A126-
A126-
D116A
D116A
K164V
K164V
R161Y
R161Y
F145V
F145V
C124*
C124*
K125R
K125R
A121Y
A121Y
F145F
F145F
C136S
C136S
S113W
S113W
I168L
I168L
K147H
K147H
H118G
H118G
R159W
R159W
H123D
H123D
D153-
D153-
F145L
F145L
L139V
L139V
T167C
T167C
G132D
G132D
A137N
A137N
K147D
K147D
G143M
G143M
Y155A
Y155A
G132F
G132F
A137-
A137-
D116D|N117-
D116D|N117-
N117I
N117I
T167N
T167N
V133A
V133A
Y155H
Y155H
C124E
C124E
H123H|C124-
H123H|C124-
I135*
I135*
A151S
A151S
S170W
S170W
D153*
D153*
A120S
A120S
L152G
L152G
N117T
N117T
I122R
I122R
R142W
R142W
A151Q
A151Q
L152M
L152M
L146M
L146M
A126I
A126I
V166F
V166F
G132-
G132-
E157F
E157F
A151C
A151C
T167*
T167*
Q149Q|E150-
Q149Q|E150-
P169L
P169L
T131I
T131I
G129Y
G129Y
V133V
V133V
C124C
C124C
R172I
R172I
V166K
V166K
H118T
H118T
L139M
L139M
K125Y
K125Y
R161H
R161H
S170Q
S170Q
L140T
L140T
Y155L
Y155L
G127R
G127R
K163S
K163S
A126V
A126V
A121D
A121D
P169Q
P169Q
E114A
E114A
R172*
R172*
E114P
E114P
T131C
T131C
C124T
C124T
A120E
A120E
V158Q
V158Q
Y138G
Y138G
A126A
A126A
G165K
G165K
A120M
A120M
C124I
C124I
D116P
D116P
Q149H
Q149H
K144D
K144D
H141R
H141R
C136E
C136E
A121A
A121A
K125N
K125N
P169K
P169K
I135S
I135S
P169T
P169T
A151R
A151R
L140L
L140L
D116Q
D116Q
K125M
K125M
K144E
K144E
V166Y
V166Y
D153G
D153G
L112I
L112I
E157W
E157W
I122P
I122P
M134Q
M134Q
D116H
D116H
C136-
C136-
A120fs
A120fs
V166Q
V166Q
S170F
S170F
C136K
C136K
H123K
H123K
L152E
L152E
M134L
M134L
L112S
L112S
C124M
C124M
H141fs
H141fs
Q171*
Q171*
I168-
I168-
M134R
M134R
F154W
F154W
F145*
F145*
D153N
D153N
K125K
K125K
V158S
V158S
Q171-
Q171-
K163W
K163W
R130D
R130D
C136fs
C136fs
R159A
R159A
I122N|H123-
I122N|H123-
D162H
D162H
A121H
A121H
I135M
I135M
Q149T
Q149T
D162Q
D162Q
A137L
A137L
Q171H
Q171H
H118D
H118D
K125*
K125*
R172fs
R172fs
E157V
E157V
A121C
A121C
T167W
T167W
K164fs
K164fs
S170G
S170G
G132T
G132T
V133M
V133M
T160V
T160V
F154-
F154-
K163T
K163T
F154F
F154F
Q149Y
Q149Y
D115P
D115P
E150D|A151-
E150D|A151-
A137Y
A137Y
E157N
E157N
I168E
I168E
R130L
R130L
H123Y
H123Y
T131S|G132-
T131S|G132-
H123I
H123I
G156E|E157-
G156E|E157-
G127fs
G127fs
V166-
V166-
Q171G
Q171G
K164I
K164I
A137C
A137C
T160G
T160G
L152H|D153-
L152H|D153-
T167I|I168-
T167I|I168-
R130P
R130P
K125-
K125-
G127I
G127I
I168fs
I168fs
L112L
L112L
R161A
R161A
A120T
A120T
R142F
R142F
A126C
A126C
R142M
R142M
C124R
C124R
F145P
F145P
D153M
D153M
L139Q
L139Q
K125V
K125V
H118R
H118R
E150L
E150L
K144H
K144H
H118P
H118P
R172S
R172S
A126Y
A126Y
G127P
G127P
G143I
G143I
K128R
K128R
E114Y
E114Y
R159T|T160-
R159T|T160-
A137I
A137I
L146A
L146A
L140P
L140P
L152D
L152D
A148S
A148S
M134-
M134-
F145M
F145M
H123W
H123W
F154fs
F154fs
I135P
I135P
G143L
G143L
D153P
D153P
N117K
N117K
Y155C
Y155C
R159G
R159G
Q171P
Q171P
E114K
E114K
L139F
L139F
Y155V
Y155V
L146L|K147-
L146L|K147-
D162R
D162R
I122Y
I122Y
H118*
H118*
H141H
H141H
L112A
L112A
T167G
T167G
R142E
R142E
K163Y
K163Y
L140I
L140I
I168G
I168G
I122A
I122A
K144I|F145-
K144I|F145-
Y155Q
Y155Q
L152Q
L152Q
R142R
R142R
C136G
C136G
R142H
R142H
C136I
C136I
K144I
K144I
V158E
V158E
L139Y
L139Y
V133G
V133G
D153fs
D153fs
T131Q
T131Q
V133E
V133E
A151N
A151N
K128E
K128E
R161M
R161M
V133I
V133I
A120Y
A120Y
K147*
K147*
D116F
D116F
T131M
T131M
K163V
K163V
D162A
D162A
M134V
M134V
L139A
L139A
G156D
G156D
S113T
S113T
G165L
G165L
T321fs
T321fs
Y138R
Y138R
C136*|A137-
C136*|A137-
V133H
V133H
C124F
C124F
D153C
D153C
V119D
V119D
Y155E
Y155E
L146E
L146E
R161fs
R161fs
V166D
V166D
R172N
R172N
G156M
G156M
G165V|V166-
G165V|V166-
Q149C
Q149C
C136T
C136T
H118L
H118L
M134I
M134I
V133T
V133T
G129Q
G129Q
G165Y
G165Y
A151G
A151G
G127K
G127K
L112D
L112D
G165E
G165E
G132C
G132C
R142R|G143-
R142R|G143-
L139R
L139R
E114F
E114F
S170T
S170T
A148T
A148T
L140A
L140A
I168D
I168D
I122S
I122S
M134E
M134E
V158G|R159-
V158G|R159-
Y138A
Y138A
C136Q
C136Q
V166I
V166I
R172A
R172A
R161Q
R161Q
A126*
A126*
G143D
G143D
E157T
E157T
A137D
A137D
R172K
R172K
R161T
R161T
D115C
D115C
Y155M
Y155M
R161C
R161C
C136D
C136D
L152F
L152F
H123V
H123V
A151W
A151W
M134N
M134N
Y138L|L139-
Y138L|L139-
A120G
A120G
G132P
G132P
L146Y
L146Y
H118E
H118E
T167H
T167H
I122I|H123-
I122I|H123-
S113H
S113H
S170P
S170P
K128Q
K128Q
F145H
F145H
R142*
R142*
V119N
V119N
C136N
C136N
C124L
C124L
H118-
H118-
H141S
H141S
P169E
P169E
R130S
R130S
V166V
V166V
T167A
T167A
T131P
T131P
A148Q
A148Q
M134I|I135-
M134I|I135-
E150P
E150P
C136P
C136P
V119A
V119A
H141R|R142-
H141R|R142-
T167S
T167S
E150A
E150A
S170K
S170K
G156W
G156W
R159V
R159V
Q149-
Q149-
L152K
L152K
L152A
L152A
H118I
H118I
H141N
H141N
Q171K
Q171K
L152N
L152N
A121E
A121E
G165G
G165G
I135H
I135H
Y138E
Y138E
C124P
C124P
R142V
R142V
G156-
G156-
A151M
A151M
T160M
T160M
T131H
T131H
G143Y
G143Y
V166G
V166G
V158N
V158N
E150K
E150K
V119P
V119P
C124G
C124G
F154V
F154V
L146K
L146K
K128D
K128D
K125T|A126-
K125T|A126-
Q149N
Q149N
L140R
L140R
R142fs
R142fs
N117E
N117E
Y155P
Y155P
S113P
S113P
D116R
D116R
L146W
L146W
Y155W
Y155W
A151H
A151H
H141Q|R142-
H141Q|R142-
L140D
L140D
Q171R|R172-
Q171R|R172-
Y155I
Y155I
A151P
A151P
F145C
F145C
T131Y
T131Y
H61fs
H61fs
V133W
V133W
A148fs
A148fs
V158-
V158-
P169G
P169G
Y138*
Y138*
R159fs
R159fs
R142G
R142G
D116*
D116*
M134fs
M134fs
S113fs
S113fs
L140F
L140F
R159Q
R159Q
T160P
T160P
L146fs
L146fs
K147G
K147G
G129I
G129I
S170A
S170A
L112V
L112V
G127S
G127S
C136C
C136C
Y138*|L139-
Y138*|L139-
L146F
L146F
H118V
H118V
D153Q
D153Q
C124H
C124H
L139K
L139K
Y155W|G156-
Y155W|G156-
A148K
A148K
F154Q
F154Q
K147F
K147F
S170I
S170I
K163-
K163-
D116I
D116I
R130N
R130N
G156P
G156P
I168P
I168P
R159H
R159H
H118F
H118F
R172Y
R172Y
A148N
A148N
K128R|G129-
K128R|G129-
G132Q
G132Q
R130W
R130W
L139G
L139G
D162E|K163-
D162E|K163-
S170C
S170C
E114R
E114R
I168K
I168K
F154L
F154L
F154F|Y155-
F154F|Y155-
A148I
A148I
R172E
R172E
K163*
K163*
L152I
L152I
F145L|L146-
F145L|L146-
P169V
P169V
R142A
R142A
L146L
L146L
D162F
D162F
P89fs
P89fs
L112M
L112M
D115R
D115R
Q171S
Q171S
K147R
K147R
V166W
V166W
T131fs
T131fs
L140C
L140C
P169fs
P169fs
A148F
A148F
Q171L
Q171L
A120P
A120P
R142D
R142D
E150*
E150*
F154R
F154R
F145Y
F145Y
H123L
H123L
Q171I
Q171I
Y138C
Y138C
N117M
N117M
G156G|E157-
G156G|E157-
R159N
R159N
A126S
A126S
T131R
T131R
V158I
V158I
A148W
A148W
F154*
F154*
D116L
D116L
Q149A
Q149A
T131D
T131D
C136H
C136H
G129M
G129M
G132Y
G132Y
L139D
L139D
D162C
D162C
H118Y
H118Y
H123C
H123C
F154K
F154K
V119V
V119V
H141W
H141W
K144N|F145-
K144N|F145-
V133Y
V133Y
R130C
R130C
G165F
G165F
G156V
G156V
G143H
G143H
C136*
C136*
L146T
L146T
D153A
D153A
M134A
M134A
K128F
K128F
K164T
K164T
Q171R
Q171R
K163C
K163C
K125F
K125F
I122W
I122W
G165D
G165D
T160fs
T160fs
F154P
F154P
N117A
N117A
G132A
G132A
P169P
P169P
K147K|A148-
K147K|A148-
E114V
E114V
K125fs
K125fs
R172H
R172H
C136A
C136A
A137K
A137K
S113F
S113F
K147I
K147I
R130A
R130A
L146G
L146G
P169H
P169H
K147T|A148-
K147T|A148-
H123R|C124-
H123R|C124-
H141G
H141G
T160E
T160E
D116C
D116C
C136Y
C136Y
G165A
G165A
R55fs
R55fs
R161K
R161K
D153E
D153E
M134T
M134T
D153H
D153H
Y155S
Y155S
H141D
H141D
F145T
F145T
R142Q
R142Q
A137P
A137P
Y155fs
Y155fs
I122H
I122H
E114S
E114S
V166M
V166M
G143-
G143-
H123P
H123P
V119F
V119F
G156E
G156E
R130K
R130K
D115W
D115W
F154H
F154H
S113R
S113R
T160H
T160H
G132fs
G132fs
H118M
H118M
E114L
E114L
F154C
F154C
K125C
K125C
Q171C
Q171C
A148E
A148E
S170H
S170H
V133R
V133R
E114I
E114I
G132K
G132K
A126M
A126M
D115G
D115G
A137T
A137T
I135K
I135K
L139P
L139P
R161N|D162-
R161N|D162-
L139C
L139C
K128N
K128N
G132S
G132S
G132H
G132H
F154A
F154A
L152W
L152W
V133Q
V133Q
R159S
R159S
G165V
G165V
R130-
R130-
A137D|Y138-
A137D|Y138-
G165fs
G165fs
T167F
T167F
R130H
R130H
D116W
D116W
C136M
C136M
D162E
D162E
I135I|C136-
I135I|C136-
L140E
L140E
V133D
V133D
I135Q
I135Q
K144T
K144T
G127V
G127V
K125Q
K125Q
G127A
G127A
I168T|P169-
I168T|P169-
K144Y
K144Y
R130Y
R130Y
K128M
K128M
H118fs
H118fs
I122fs
I122fs
V119-
V119-
G143fs
G143fs
G127H
G127H
K164W
K164W
L146C
L146C
G127E
G127E
S113Q
S113Q
Q149P
Q149P
I168N
I168N
A148A
A148A
H123H
H123H
R142T
R142T
T160D
T160D
V133*
V133*
L265fs
L265fs
V166*
V166*
G132V
G132V
T167K
T167K
D115S
D115S
T131-
T131-
K144F
K144F
G129V
G129V
F154G
F154G
R161R
R161R
K164K|G165-
K164K|G165-
N117P
N117P
I168V
I168V
M134C
M134C
A121R
A121R
R159R
R159R
T167-
T167-
G132I
G132I
F154I
F154I
I168R
I168R
A151fs
A151fs
I122M
I122M
A126D
A126D
Y138S
Y138S
K128G
K128G
D153V
D153V
G165-
G165-
R161F
R161F
A126G|G127-
A126G|G127-
R159T
R159T
A120V
A120V
L140G
L140G
A120R
A120R
A148M
A148M
T160Q
T160Q
G127T
G127T
C124K
C124K
K125H
K125H
S113R|E114-
S113R|E114-
T160T|R161-
T160T|R161-
A137S
A137S
I122*
I122*
E114E
E114E
G156N
G156N
A121fs
A121fs
L112N
L112N
G156I
G156I
G156A
G156A
L112fs
L112fs
Q149V
Q149V
C136R
C136R
K125L
K125L
K163K|K164-
K163K|K164-
V133S
V133S
G127W
G127W
L152L
L152L
I135Y
I135Y
T160K
T160K
I122T
I122T
D162K
D162K
A126G
A126G
V166L
V166L
V166R
V166R
G127L
G127L
E157D
E157D
L112L|S113-
L112L|S113-
I168A
I168A
A137V
A137V
H123Q
H123Q
S170V
S170V
T160R|R161-
T160R|R161-
A121G
A121G
D116Y
D116Y
K128K|G129-
K128K|G129-
Q149D
Q149D
G129G
G129G
L146P
L146P
V133P
V133P
Q171Y
Q171Y
H141P
H141P
P169Y
P169Y
R161D
R161D
T167P
T167P
S170M
S170M
D153I
D153I
D115Y
D115Y
G127C
G127C
F154Y
F154Y
G143R
G143R
R142S
R142S
S170D
S170D
A151K
A151K
A126N
A126N
A126fs
A126fs
A121*
A121*
V133V|M134-
V133V|M134-
G143C
G143C
Q149fs
Q149fs
H123R
H123R
D116G
D116G
G143A
G143A
D162D
D162D
Y155K
Y155K
M134H
M134H
R130Q
R130Q
E157A
E157A
E114Q
E114Q
A137G
A137G
R159F
R159F
E114M
E114M
I168Q
I168Q
V119Q
V119Q
A137R
A137R
Y155R
Y155R
E157H
E157H
A137E
A137E
E150fs
E150fs
K147N
K147N
V166E
V166E
L140H
L140H
K125P
K125P
D162N
D162N
V166C
V166C
H123N
H123N
T131L
T131L
T131E
T131E
A120K
A120K
S170fs
S170fs
D153D
D153D
R159Y
R159Y
I168Y
I168Y
K128T
K128T
A137H
A137H
E157E
E157E
Y155*|G156-
Y155*|G156-
R172S|R173-
R172S|R173-
K147L
K147L
A151E
A151E
Y138H
Y138H
V166P
V166P
H118H
H118H
Y138T
Y138T
G165H
G165H
I122F
I122F
K144fs
K144fs
L139fs
L139fs
K164D
K164D
E150Q
E150Q
V166A|T167-
V166A|T167-
P169F
P169F
L112Y
L112Y
K144N
K144N
R142I
R142I
Q149S
Q149S
D115D
D115D
H141C
H141C
Q149F
Q149F
G143T
G143T
K128fs
K128fs
Y138I
Y138I
D162L
D162L
L152L|D153-
L152L|D153-
A121V
A121V
K163M
K163M
C124-
C124-
A137W
A137W
K144R
K144R
T167Y
T167Y
R130F
R130F
H118Q
H118Q
E150N
E150N
K6fs
K6fs
L152H
L152H
T160I
T160I
V133fs
V133fs
K144P
K144P
L139N
L139N
G129C
G129C
K125E
K125E
K144L
K144L
Y138L
Y138L
D153F
D153F
K163A
K163A
K125N|A126-
K125N|A126-
F145Q
F145Q
I135C
I135C
I122N
I122N
L140V
L140V
V133N
V133N
R159-
R159-
Q171D
Q171D
K147Y
K147Y
K147T
K147T
G129-
G129-
F145G
F145G
K144Q
K144Q
R130R
R130R
F154E
F154E
V158fs
V158fs
G165T
G165T
G143P
G143P
K144*
K144*
Y155T
Y155T
I135D
I135D
F154D
F154D
K144-
K144-
F145S
F145S
C124D
C124D
L152*
L152*
G156*
G156*
H123E
H123E
L140fs
L140fs
C136V
C136V
L139T
L139T
E150D
E150D
G127M
G127M
G127E|K128-
G127E|K128-
F154S
F154S
L146Q
L146Q
A148*
A148*
I122K
I122K
V119A|A120-
V119A|A120-
A137F
A137F
T167I
T167I
K164L
K164L
N117F
N117F
G156Y
G156Y
K164M
K164M
S113I
S113I
K164F
K164F
H123G
H123G
A120W
A120W
V158H
V158H
R234fs
R234fs
S113K|E114-
S113K|E114-
Y138N
Y138N
K164A
K164A
K164*
K164*
A120I
A120I
K128P
K128P
D162P
D162P
A148Y
A148Y
L139W
L139W
V133L
V133L
A121F
A121F
D116V
D116V
D115Q
D115Q
R130M
R130M
V158V
V158V
V119T
V119T
Q149Q
Q149Q
R159D
R159D
D115D|D116-
D115D|D116-
Y155F
Y155F
P169R
P169R
L152fs
L152fs
A121S
A121S
R159M
R159M
G143*
G143*
K147S
K147S
S113N
S113N
E157K
E157K
V119L
V119L
I168W
I168W
R161P
R161P
H141I
H141I
I168H
I168H
T131G
T131G
G129K
G129K
I135N
I135N
L146S
L146S
I122I
I122I
K144V
K144V
T131S
T131S
M134W
M134W
G156L
G156L
I168C
I168C
I135F
I135F
D162I
D162I
Q171T
Q171T
A137A|Y138-
A137A|Y138-
H118K
H118K
G156H
G156H
E150F
E150F
H141Q
H141Q
V158M
V158M
R159L
R159L
R161N
R161N
Q171fs
Q171fs
L152P
L152P
A148P
A148P
Q171M
Q171M
I135fs
I135fs
R172R
R172R
E114D|D115-
E114D|D115-
K164E
K164E
P169S
P169S
D115F
D115F
K144C
K144C
Single Missense
Cluster 7
Cluster 3
Cluster 5
Cluster 9
Cluster 8
Cluster 10
Synonymous
Cluster 1
Cluster 6
Frameshift
Cluster 2
ASD/DD
3nt Deletion
Cluster 4
gnomAD controls
PHTS
Somatic cancer
ClinVar: LP
Nonsense
ClinVar: P
ClinVar: LB
1.0
10.0
100.0
0
3
6
9
12
15
Log scale
Intensity MeanIntensity pAKT
Per variant images
Variant Synonymous
Variant Frameshift
Feature: Correlation Correlation DAPI mEGFP-PTEN
D115M
G132R
K144W
H123T
V119R
T167E
T131F
K163K
R130E
M134S
A121I
K147C
L139E
G143F
V119S
L146R
V158D
K163E
G156R
H141F
L139H
L139I
F154M
V158Y
K125G
D116N
D153W
D115L
A148R
I135R
D116K
E157L
G165Q
V119I
I135E
A151D
G132N
E114C
Q171N
I168F
D162S
G129L
H141E
E150Y
L152R
L146D
K128C
A121K
D115E
E114G
T160N
Q149M
S170N
C124V
I168T
Q149I
V158F
H141A
K128V
H141K
P169I
Y138M
K128S
K147Q
C136W
K125D
Q149L
K128I
Y138V
I122C
D153Y
S170*
G127D
G165R
L152Y
E114H
L140Q
G129F
A120N
A121T
K144S
F145E
A120Q
L112R
G143N
K144K
C124A
E157M
G129P
H123M
C124S
K147W
A121W
K164N
T160F
D162T
D115H
K164G
V119*
E150I
G156G
E157I
Y138W
K164R
Q149G
V158G
E150G
D116D
T167M
D153L
C124Y
R161W
A120F
I135V
D115*
Y138P
T131T
F145A
H141T
F145D
L112C
N117N
L140S
D153K
L146*
N117Y
D153T
K163F
R142K
V166A
A126F
E150H
H118W
L112*
I122Q
K144M
D116T
V119K
A126W
P169*
I135G
I168*
K128W
A120D
A137Q
N117R
L146V
V119W
D162M
T160Y
Y155Y
I135W
R161I
G129H
N117S
T160C
S113Y
G129W
F154T
I122E
E114D
R161*
V158A
A120C
L146I
L112K
E157P
E157C
L146N
R172G
R172L
G165*
R142L
V158W
D162W
V119H
Q171E
D116M
P169C
L139*
M134*
K147M
K164P
L140K
Q149W
R130T
R172V
A148D
K164S
G156C
K164Y
G143G
D162V
Q171F
D162G
S113D
I135A
I168I
M134F
E157G
N117*
R172F
P169W
Y138Q
G165I
V166S
R172C
V158T
R172M
Q171Q
T131*
R130I
D115A
T160A
T160R
V133C
R161S
P169A
E150V
S170Y
S113S
D162*
G156T
A137A
L140W
T167Q
T167L
R159P
K125W
G143V
A151*
R161L
A151L
Q171W
D115N
I122L
E157S
Y155G
L112F
A126L
R159I
K128K
D115I
K125A
R142N
K128A
R161E
L140M
A151A
G129E
A120L
A151V
A148G
G132E
A126Q
C136F
V158P
D116E
G165C
L140*
Q149K
G165N
H118N
L112Q
G165S
S170E
T160W
K164H
G129*
A148L
T131W
L152S
K128L
D116A
K164V
R161Y
F145V
C124*
K125R
A121Y
F145F
C136S
S113W
I168L
K147H
H118G
R159W
H123D
F145L
L139V
T167C
G132D
A137N
K147D
G143M
Y155A
G132F
N117I
T167N
V133A
Y155H
C124E
I135*
A151S
S170W
D153*
A120S
L152G
N117T
I122R
R142W
A151Q
L152M
L146M
A126I
V166F
E157F
A151C
T167*
P169L
T131I
G129Y
V133V
C124C
R172I
V166K
H118T
L139M
K125Y
R161H
S170Q
L140T
Y155L
G127R
K163S
A126V
A121D
P169Q
E114A
R172*
E114P
T131C
C124T
A120E
V158Q
Y138G
A126A
G165K
A120M
C124I
D116P
Q149H
K144D
H141R
C136E
A121A
K125N
P169K
I135S
P169T
A151R
L140L
D116Q
K125M
K144E
V166Y
D153G
L112I
E157W
I122P
M134Q
D116H
V166Q
S170F
C136K
H123K
L152E
M134L
L112S
C124M
Q171*
M134R
F154W
F145*
D153N
K125K
V158S
K163W
R130D
R159A
D162H
A121H
I135M
Q149T
D162Q
A137L
Q171H
H118D
K125*
E157V
A121C
T167W
S170G
G132T
V133M
T160V
K163T
F154F
Q149Y
D115P
A137Y
E157N
I168E
R130L
H123Y
H123I
Q171G
K164I
A137C
T160G
R130P
G127I
L112L
R161A
A120T
R142F
A126C
R142M
C124R
F145P
D153M
L139Q
K125V
H118R
E150L
K144H
H118P
R172S
A126Y
G127P
G143I
K128R
E114Y
A137I
L146A
L140P
L152D
A148S
F145M
H123W
I135P
G143L
D153P
N117K
Y155C
R159G
Q171P
E114K
L139F
Y155V
D162R
I122Y
H118*
H141H
L112A
T167G
R142E
K163Y
L140I
I168G
I122A
Y155Q
L152Q
R142R
C136G
R142H
C136I
K144I
V158E
L139Y
V133G
T131Q
V133E
A151N
K128E
R161M
V133I
A120Y
K147*
D116F
T131M
K163V
D162A
M134V
L139A
G156D
S113T
G165L
Y138R
V133H
C124F
D153C
V119D
Y155E
L146E
V166D
R172N
G156M
Q149C
C136T
H118L
M134I
V133T
G129Q
G165Y
A151G
G127K
L112D
G165E
G132C
L139R
E114F
S170T
A148T
L140A
I168D
I122S
M134E
Y138A
C136Q
V166I
R172A
R161Q
A126*
G143D
E157T
A137D
R172K
R161T
D115C
Y155M
R161C
C136D
L152F
H123V
A151W
M134N
A120G
G132P
L146Y
H118E
T167H
S113H
S170P
K128Q
F145H
R142*
V119N
C136N
C124L
H141S
P169E
R130S
V166V
T167A
T131P
A148Q
E150P
C136P
V119A
T167S
E150A
S170K
G156W
R159V
L152K
L152A
H118I
H141N
Q171K
L152N
A121E
G165G
I135H
Y138E
C124P
R142V
A151M
T160M
T131H
G143Y
V166G
V158N
E150K
V119P
C124G
F154V
L146K
K128D
Q149N
L140R
N117E
Y155P
S113P
D116R
L146W
Y155W
A151H
L140D
Y155I
A151P
F145C
T131Y
V133W
P169G
Y138*
R142G
D116*
L140F
R159Q
T160P
K147G
G129I
S170A
L112V
G127S
C136C
L146F
H118V
D153Q
C124H
L139K
A148K
F154Q
K147F
S170I
D116I
R130N
G156P
I168P
R159H
H118F
R172Y
A148N
G132Q
R130W
L139G
S170C
E114R
I168K
F154L
A148I
R172E
K163*
L152I
P169V
R142A
L146L
D162F
L112M
D115R
Q171S
K147R
V166W
L140C
A148F
Q171L
A120P
R142D
E150*
F154R
F145Y
H123L
Q171I
Y138C
N117M
R159N
A126S
T131R
V158I
A148W
F154*
D116L
Q149A
T131D
C136H
G129M
G132Y
L139D
D162C
H118Y
H123C
F154K
V119V
H141W
V133Y
R130C
G165F
G156V
G143H
C136*
L146T
D153A
M134A
K128F
K164T
Q171R
K163C
K125F
I122W
G165D
F154P
N117A
G132A
P169P
E114V
R172H
C136A
A137K
S113F
K147I
R130A
L146G
P169H
H141G
T160E
D116C
C136Y
G165A
R161K
D153E
M134T
D153H
Y155S
H141D
F145T
R142Q
A137P
I122H
E114S
V166M
H123P
V119F
G156E
R130K
D115W
F154H
S113R
T160H
H118M
E114L
F154C
K125C
Q171C
A148E
S170H
V133R
E114I
G132K
A126M
D115G
A137T
I135K
L139P
L139C
K128N
G132S
G132H
F154A
L152W
V133Q
R159S
G165V
T167F
R130H
D116W
C136M
D162E
L140E
V133D
I135Q
K144T
G127V
K125Q
G127A
K144Y
R130Y
K128M
G127H
K164W
L146C
G127E
S113Q
Q149P
I168N
A148A
H123H
R142T
T160D
V133*
V166*
G132V
T167K
D115S
K144F
G129V
F154G
R161R
N117P
I168V
M134C
A121R
R159R
G132I
F154I
I168R
I122M
A126D
Y138S
K128G
D153V
R161F
R159T
A120V
L140G
A120R
A148M
T160Q
G127T
C124K
K125H
A137S
I122*
E114E
G156N
L112N
G156I
G156A
Q149V
C136R
K125L
V133S
G127W
L152L
I135Y
T160K
I122T
D162K
A126G
V166L
V166R
G127L
E157D
I168A
A137V
H123Q
S170V
A121G
D116Y
Q149D
G129G
L146P
V133P
Q171Y
H141P
P169Y
R161D
T167P
S170M
D153I
D115Y
G127C
F154Y
G143R
R142S
S170D
A151K
A126N
A121*
G143C
H123R
D116G
G143A
D162D
Y155K
M134H
R130Q
E157A
E114Q
A137G
R159F
E114M
I168Q
V119Q
A137R
Y155R
E157H
A137E
K147N
V166E
L140H
K125P
D162N
V166C
H123N
T131L
T131E
A120K
D153D
R159Y
I168Y
K128T
A137H
E157E
K147L
A151E
Y138H
V166P
H118H
Y138T
G165H
I122F
K164D
E150Q
P169F
L112Y
K144N
R142I
Q149S
D115D
H141C
Q149F
G143T
Y138I
D162L
A121V
K163M
A137W
K144R
T167Y
R130F
H118Q
E150N
L152H
T160I
K144P
L139N
G129C
K125E
K144L
Y138L
D153F
K163A
F145Q
I135C
I122N
L140V
V133N
Q171D
K147Y
K147T
F145G
K144Q
R130R
F154E
G165T
G143P
K144*
Y155T
I135D
F154D
F145S
C124D
L152*
G156*
H123E
C136V
L139T
E150D
G127M
F154S
L146Q
A148*
I122K
A137F
T167I
K164L
N117F
G156Y
K164M
S113I
K164F
H123G
A120W
V158H
Y138N
K164A
K164*
A120I
K128P
D162P
A148Y
L139W
V133L
A121F
D116V
D115Q
R130M
V158V
V119T
Q149Q
R159D
Y155F
P169R
A121S
R159M
G143*
K147S
S113N
E157K
V119L
I168W
R161P
H141I
I168H
T131G
G129K
I135N
L146S
I122I
K144V
T131S
M134W
G156L
I168C
I135F
D162I
Q171T
H118K
G156H
E150F
H141Q
V158M
R159L
R161N
L152P
A148P
Q171M
R172R
K164E
P169S
D115F
K144C
115
120
125
130
135
140
145
150
155
160
165
170
A
V
I
L
G
F
Y
W
C
M
P
S
T
N
Q
D
E
H
K
R
*
-9
-6
-3
0
3
6
9
External link
D115M
D115M
G132R
G132R
K144W
K144W
H123T
H123T
V119R
V119R
T167E
T167E
T131F
T131F
K163K
K163K
R130E
R130E
M134S
M134S
A121I
A121I
K147C
K147C
L139E
L139E
G143F
G143F
V119S
V119S
E157fs
E157fs
L146R
L146R
V158D
V158D
K163E
K163E
G156R
G156R
H141F
H141F
F145-
F145-
L139H
L139H
L139I
L139I
F154M
F154M
V158Y
V158Y
K125G
K125G
G156fs
G156fs
D116N
D116N
D153W
D153W
D115L
D115L
A148R
A148R
R173fs
R173fs
I135R
I135R
D116K
D116K
E157L
E157L
G165Q
G165Q
P169P|S170-
P169P|S170-
K147fs
K147fs
V119I
V119I
I135E
I135E
A151D
A151D
G132N
G132N
E114C
E114C
Q171N
Q171N
I168F
I168F
D162S
D162S
G129L
G129L
H141E
H141E
E150Y
E150Y
L152R
L152R
L146D
L146D
K128C
K128C
A121K
A121K
D115E
D115E
E114G
E114G
T160N
T160N
Q149M
Q149M
S170N
S170N
C124V
C124V
I168T
I168T
Q149I
Q149I
V158F
V158F
H141A
H141A
K128V
K128V
H141K
H141K
P169I
P169I
Y138M
Y138M
K128S
K128S
K147Q
K147Q
C136W
C136W
K125D
K125D
D162-
D162-
Q149L
Q149L
K128I
K128I
S170K|Q171-
S170K|Q171-
E157V|V158-
E157V|V158-
Y138V
Y138V
I122C
I122C
D153Y
D153Y
S170*
S170*
G127D
G127D
G165R
G165R
E288fs
E288fs
L152Y
L152Y
E114H
E114H
K128-
K128-
L140Q
L140Q
W111fs
W111fs
G129F
G129F
A120N
A120N
A121T
A121T
K144S
K144S
G143G|K144-
G143G|K144-
F145E
F145E
A120Q
A120Q
L112R
L112R
G143N
G143N
K144K
K144K
C124A
C124A
E157M
E157M
G129P
G129P
H123M
H123M
C124S
C124S
F154Y|Y155-
F154Y|Y155-
K147W
K147W
A121W
A121W
P169-
P169-
K164N
K164N
T160F
T160F
D162T
D162T
D115H
D115H
G132V|V133-
G132V|V133-
K164G
K164G
V119*
V119*
E150I
E150I
G156G
G156G
T167fs
T167fs
E157I
E157I
Y138W
Y138W
K164R
K164R
Q149G
Q149G
L140-
L140-
V158G
V158G
E150G
E150G
D116D
D116D
T167M
T167M
D153L
D153L
C124Y
C124Y
R161W
R161W
A120F
A120F
I135V
I135V
D115*
D115*
Y138P
Y138P
T131T
T131T
F145A
F145A
H141T
H141T
F145D
F145D
L112C
L112C
N117N
N117N
R172-
R172-
L140S
L140S
D153K
D153K
L146*
L146*
N117Y
N117Y
D153T
D153T
K163F
K163F
R142K
R142K
V166A
V166A
A126F
A126F
E150H
E150H
H118W
H118W
L112*
L112*
H141-
H141-
I122Q
I122Q
K144M
K144M
D116T
D116T
V119K
V119K
A126W
A126W
P169*
P169*
I135G
I135G
I168*
I168*
K128W
K128W
A120D
A120D
A137Q
A137Q
N117R
N117R
R159S|T160-
R159S|T160-
L146V
L146V
V119W
V119W
D162M
D162M
T160Y
T160Y
Y155Y
Y155Y
I135W
I135W
D162fs
D162fs
R161I
R161I
G129H
G129H
T348fs
T348fs
N117S
N117S
I122-
I122-
P169R|S170-
P169R|S170-
T160C
T160C
A121-
A121-
S113Y
S113Y
G129W
G129W
F154T
F154T
I122E
I122E
E114D
E114D
R161*
R161*
V158A
V158A
A120C
A120C
L146I
L146I
C124*|K125-
C124*|K125-
A151V|L152-
A151V|L152-
F145fs
F145fs
L112K
L112K
E157P
E157P
E157C
E157C
L146N
L146N
R172G
R172G
R172L
R172L
G165*
G165*
R142L
R142L
V158W
V158W
D162W
D162W
V119H
V119H
Q171E
Q171E
D116M
D116M
P169C
P169C
L139*
L139*
M134*
M134*
S170R|Q171-
S170R|Q171-
K147M
K147M
K164P
K164P
C136S|A137-
C136S|A137-
L140K
L140K
Q149W
Q149W
R130T
R130T
R172V
R172V
R161S|D162-
R161S|D162-
A148D
A148D
K164S
K164S
G156C
G156C
K164Y
K164Y
G143G
G143G
D162V
D162V
Q171F
Q171F
D162G
D162G
S113D
S113D
I135A
I135A
I168I
I168I
M134F
M134F
G127G|K128-
G127G|K128-
E157G
E157G
N117*
N117*
R172F
R172F
P169W
P169W
Y138Q
Y138Q
G165I
G165I
V166S
V166S
R172C
R172C
V158T
V158T
A151A|L152-
A151A|L152-
R172M
R172M
Q171Q
Q171Q
T131*
T131*
R130I
R130I
D115A
D115A
V166fs
V166fs
T160A
T160A
T160R
T160R
V133C
V133C
R161S
R161S
P169A
P169A
E150V
E150V
S170Y
S170Y
S113S
S113S
D162*
D162*
G156T
G156T
E114-
E114-
A137A
A137A
L140W
L140W
T167Q
T167Q
T167L
T167L
R159P
R159P
K125W
K125W
F56fs
F56fs
Y174fs
Y174fs
G143V
G143V
A151*
A151*
R161L
R161L
A151L
A151L
Q171W
Q171W
D115N
D115N
I122L
I122L
E157S
E157S
Y155G
Y155G
L112F
L112F
A126L
A126L
R159I
R159I
K128K
K128K
D115I
D115I
K125A
K125A
R142N
R142N
K128A
K128A
R161E
R161E
L140M
L140M
A151A
A151A
G129E
G129E
A120L
A120L
A151V
A151V
A148G
A148G
A126A|G127-
A126A|G127-
G132E
G132E
A126Q
A126Q
C136F
C136F
S170-
S170-
V158P
V158P
D116E
D116E
G165C
G165C
R130fs
R130fs
L140*
L140*
Q149K
Q149K
G165N
G165N
H118N
H118N
L112Q
L112Q
G165S
G165S
S170E
S170E
T160W
T160W
K164H
K164H
G129*
G129*
A148L
A148L
T131W
T131W
L152S
L152S
K128L
K128L
A126-
A126-
D116A
D116A
K164V
K164V
R161Y
R161Y
F145V
F145V
C124*
C124*
K125R
K125R
A121Y
A121Y
F145F
F145F
C136S
C136S
S113W
S113W
I168L
I168L
K147H
K147H
H118G
H118G
R159W
R159W
H123D
H123D
D153-
D153-
F145L
F145L
L139V
L139V
T167C
T167C
G132D
G132D
A137N
A137N
K147D
K147D
G143M
G143M
Y155A
Y155A
G132F
G132F
A137-
A137-
D116D|N117-
D116D|N117-
N117I
N117I
T167N
T167N
V133A
V133A
Y155H
Y155H
C124E
C124E
H123H|C124-
H123H|C124-
I135*
I135*
A151S
A151S
S170W
S170W
D153*
D153*
A120S
A120S
L152G
L152G
N117T
N117T
I122R
I122R
R142W
R142W
A151Q
A151Q
L152M
L152M
L146M
L146M
A126I
A126I
V166F
V166F
G132-
G132-
E157F
E157F
A151C
A151C
T167*
T167*
Q149Q|E150-
Q149Q|E150-
P169L
P169L
T131I
T131I
G129Y
G129Y
V133V
V133V
C124C
C124C
R172I
R172I
V166K
V166K
H118T
H118T
L139M
L139M
K125Y
K125Y
R161H
R161H
S170Q
S170Q
L140T
L140T
Y155L
Y155L
G127R
G127R
K163S
K163S
A126V
A126V
A121D
A121D
P169Q
P169Q
E114A
E114A
R172*
R172*
E114P
E114P
T131C
T131C
C124T
C124T
A120E
A120E
V158Q
V158Q
Y138G
Y138G
A126A
A126A
G165K
G165K
A120M
A120M
C124I
C124I
D116P
D116P
Q149H
Q149H
K144D
K144D
H141R
H141R
C136E
C136E
A121A
A121A
K125N
K125N
P169K
P169K
I135S
I135S
P169T
P169T
A151R
A151R
L140L
L140L
D116Q
D116Q
K125M
K125M
K144E
K144E
V166Y
V166Y
D153G
D153G
L112I
L112I
E157W
E157W
I122P
I122P
M134Q
M134Q
D116H
D116H
C136-
C136-
A120fs
A120fs
V166Q
V166Q
S170F
S170F
C136K
C136K
H123K
H123K
L152E
L152E
M134L
M134L
L112S
L112S
C124M
C124M
H141fs
H141fs
Q171*
Q171*
I168-
I168-
M134R
M134R
F154W
F154W
F145*
F145*
D153N
D153N
K125K
K125K
V158S
V158S
Q171-
Q171-
K163W
K163W
R130D
R130D
C136fs
C136fs
R159A
R159A
I122N|H123-
I122N|H123-
D162H
D162H
A121H
A121H
I135M
I135M
Q149T
Q149T
D162Q
D162Q
A137L
A137L
Q171H
Q171H
H118D
H118D
K125*
K125*
R172fs
R172fs
E157V
E157V
A121C
A121C
T167W
T167W
K164fs
K164fs
S170G
S170G
G132T
G132T
V133M
V133M
T160V
T160V
F154-
F154-
K163T
K163T
F154F
F154F
Q149Y
Q149Y
D115P
D115P
E150D|A151-
E150D|A151-
A137Y
A137Y
E157N
E157N
I168E
I168E
R130L
R130L
H123Y
H123Y
T131S|G132-
T131S|G132-
H123I
H123I
G156E|E157-
G156E|E157-
G127fs
G127fs
V166-
V166-
Q171G
Q171G
K164I
K164I
A137C
A137C
T160G
T160G
L152H|D153-
L152H|D153-
T167I|I168-
T167I|I168-
R130P
R130P
K125-
K125-
G127I
G127I
I168fs
I168fs
L112L
L112L
R161A
R161A
A120T
A120T
R142F
R142F
A126C
A126C
R142M
R142M
C124R
C124R
F145P
F145P
D153M
D153M
L139Q
L139Q
K125V
K125V
H118R
H118R
E150L
E150L
K144H
K144H
H118P
H118P
R172S
R172S
A126Y
A126Y
G127P
G127P
G143I
G143I
K128R
K128R
E114Y
E114Y
R159T|T160-
R159T|T160-
A137I
A137I
L146A
L146A
L140P
L140P
L152D
L152D
A148S
A148S
M134-
M134-
F145M
F145M
H123W
H123W
F154fs
F154fs
I135P
I135P
G143L
G143L
D153P
D153P
N117K
N117K
Y155C
Y155C
R159G
R159G
Q171P
Q171P
E114K
E114K
L139F
L139F
Y155V
Y155V
L146L|K147-
L146L|K147-
D162R
D162R
I122Y
I122Y
H118*
H118*
H141H
H141H
L112A
L112A
T167G
T167G
R142E
R142E
K163Y
K163Y
L140I
L140I
I168G
I168G
I122A
I122A
K144I|F145-
K144I|F145-
Y155Q
Y155Q
L152Q
L152Q
R142R
R142R
C136G
C136G
R142H
R142H
C136I
C136I
K144I
K144I
V158E
V158E
L139Y
L139Y
V133G
V133G
D153fs
D153fs
T131Q
T131Q
V133E
V133E
A151N
A151N
K128E
K128E
R161M
R161M
V133I
V133I
A120Y
A120Y
K147*
K147*
D116F
D116F
T131M
T131M
K163V
K163V
D162A
D162A
M134V
M134V
L139A
L139A
G156D
G156D
S113T
S113T
G165L
G165L
T321fs
T321fs
Y138R
Y138R
C136*|A137-
C136*|A137-
V133H
V133H
C124F
C124F
D153C
D153C
V119D
V119D
Y155E
Y155E
L146E
L146E
R161fs
R161fs
V166D
V166D
R172N
R172N
G156M
G156M
G165V|V166-
G165V|V166-
Q149C
Q149C
C136T
C136T
H118L
H118L
M134I
M134I
V133T
V133T
G129Q
G129Q
G165Y
G165Y
A151G
A151G
G127K
G127K
L112D
L112D
G165E
G165E
G132C
G132C
R142R|G143-
R142R|G143-
L139R
L139R
E114F
E114F
S170T
S170T
A148T
A148T
L140A
L140A
I168D
I168D
I122S
I122S
M134E
M134E
V158G|R159-
V158G|R159-
Y138A
Y138A
C136Q
C136Q
V166I
V166I
R172A
R172A
R161Q
R161Q
A126*
A126*
G143D
G143D
E157T
E157T
A137D
A137D
R172K
R172K
R161T
R161T
D115C
D115C
Y155M
Y155M
R161C
R161C
C136D
C136D
L152F
L152F
H123V
H123V
A151W
A151W
M134N
M134N
Y138L|L139-
Y138L|L139-
A120G
A120G
G132P
G132P
L146Y
L146Y
H118E
H118E
T167H
T167H
I122I|H123-
I122I|H123-
S113H
S113H
S170P
S170P
K128Q
K128Q
F145H
F145H
R142*
R142*
V119N
V119N
C136N
C136N
C124L
C124L
H118-
H118-
H141S
H141S
P169E
P169E
R130S
R130S
V166V
V166V
T167A
T167A
T131P
T131P
A148Q
A148Q
M134I|I135-
M134I|I135-
E150P
E150P
C136P
C136P
V119A
V119A
H141R|R142-
H141R|R142-
T167S
T167S
E150A
E150A
S170K
S170K
G156W
G156W
R159V
R159V
Q149-
Q149-
L152K
L152K
L152A
L152A
H118I
H118I
H141N
H141N
Q171K
Q171K
L152N
L152N
A121E
A121E
G165G
G165G
I135H
I135H
Y138E
Y138E
C124P
C124P
R142V
R142V
G156-
G156-
A151M
A151M
T160M
T160M
T131H
T131H
G143Y
G143Y
V166G
V166G
V158N
V158N
E150K
E150K
V119P
V119P
C124G
C124G
F154V
F154V
L146K
L146K
K128D
K128D
K125T|A126-
K125T|A126-
Q149N
Q149N
L140R
L140R
R142fs
R142fs
N117E
N117E
Y155P
Y155P
S113P
S113P
D116R
D116R
L146W
L146W
Y155W
Y155W
A151H
A151H
H141Q|R142-
H141Q|R142-
L140D
L140D
Q171R|R172-
Q171R|R172-
Y155I
Y155I
A151P
A151P
F145C
F145C
T131Y
T131Y
H61fs
H61fs
V133W
V133W
A148fs
A148fs
V158-
V158-
P169G
P169G
Y138*
Y138*
R159fs
R159fs
R142G
R142G
D116*
D116*
M134fs
M134fs
S113fs
S113fs
L140F
L140F
R159Q
R159Q
T160P
T160P
L146fs
L146fs
K147G
K147G
G129I
G129I
S170A
S170A
L112V
L112V
G127S
G127S
C136C
C136C
Y138*|L139-
Y138*|L139-
L146F
L146F
H118V
H118V
D153Q
D153Q
C124H
C124H
L139K
L139K
Y155W|G156-
Y155W|G156-
A148K
A148K
F154Q
F154Q
K147F
K147F
S170I
S170I
K163-
K163-
D116I
D116I
R130N
R130N
G156P
G156P
I168P
I168P
R159H
R159H
H118F
H118F
R172Y
R172Y
A148N
A148N
K128R|G129-
K128R|G129-
G132Q
G132Q
R130W
R130W
L139G
L139G
D162E|K163-
D162E|K163-
S170C
S170C
E114R
E114R
I168K
I168K
F154L
F154L
F154F|Y155-
F154F|Y155-
A148I
A148I
R172E
R172E
K163*
K163*
L152I
L152I
F145L|L146-
F145L|L146-
P169V
P169V
R142A
R142A
L146L
L146L
D162F
D162F
P89fs
P89fs
L112M
L112M
D115R
D115R
Q171S
Q171S
K147R
K147R
V166W
V166W
T131fs
T131fs
L140C
L140C
P169fs
P169fs
A148F
A148F
Q171L
Q171L
A120P
A120P
R142D
R142D
E150*
E150*
F154R
F154R
F145Y
F145Y
H123L
H123L
Q171I
Q171I
Y138C
Y138C
N117M
N117M
G156G|E157-
G156G|E157-
R159N
R159N
A126S
A126S
T131R
T131R
V158I
V158I
A148W
A148W
F154*
F154*
D116L
D116L
Q149A
Q149A
T131D
T131D
C136H
C136H
G129M
G129M
G132Y
G132Y
L139D
L139D
D162C
D162C
H118Y
H118Y
H123C
H123C
F154K
F154K
V119V
V119V
H141W
H141W
K144N|F145-
K144N|F145-
V133Y
V133Y
R130C
R130C
G165F
G165F
G156V
G156V
G143H
G143H
C136*
C136*
L146T
L146T
D153A
D153A
M134A
M134A
K128F
K128F
K164T
K164T
Q171R
Q171R
K163C
K163C
K125F
K125F
I122W
I122W
G165D
G165D
T160fs
T160fs
F154P
F154P
N117A
N117A
G132A
G132A
P169P
P169P
K147K|A148-
K147K|A148-
E114V
E114V
K125fs
K125fs
R172H
R172H
C136A
C136A
A137K
A137K
S113F
S113F
K147I
K147I
R130A
R130A
L146G
L146G
P169H
P169H
K147T|A148-
K147T|A148-
H123R|C124-
H123R|C124-
H141G
H141G
T160E
T160E
D116C
D116C
C136Y
C136Y
G165A
G165A
R55fs
R55fs
R161K
R161K
D153E
D153E
M134T
M134T
D153H
D153H
Y155S
Y155S
H141D
H141D
F145T
F145T
R142Q
R142Q
A137P
A137P
Y155fs
Y155fs
I122H
I122H
E114S
E114S
V166M
V166M
G143-
G143-
H123P
H123P
V119F
V119F
G156E
G156E
R130K
R130K
D115W
D115W
F154H
F154H
S113R
S113R
T160H
T160H
G132fs
G132fs
H118M
H118M
E114L
E114L
F154C
F154C
K125C
K125C
Q171C
Q171C
A148E
A148E
S170H
S170H
V133R
V133R
E114I
E114I
G132K
G132K
A126M
A126M
D115G
D115G
A137T
A137T
I135K
I135K
L139P
L139P
R161N|D162-
R161N|D162-
L139C
L139C
K128N
K128N
G132S
G132S
G132H
G132H
F154A
F154A
L152W
L152W
V133Q
V133Q
R159S
R159S
G165V
G165V
R130-
R130-
A137D|Y138-
A137D|Y138-
G165fs
G165fs
T167F
T167F
R130H
R130H
D116W
D116W
C136M
C136M
D162E
D162E
I135I|C136-
I135I|C136-
L140E
L140E
V133D
V133D
I135Q
I135Q
K144T
K144T
G127V
G127V
K125Q
K125Q
G127A
G127A
I168T|P169-
I168T|P169-
K144Y
K144Y
R130Y
R130Y
K128M
K128M
H118fs
H118fs
I122fs
I122fs
V119-
V119-
G143fs
G143fs
G127H
G127H
K164W
K164W
L146C
L146C
G127E
G127E
S113Q
S113Q
Q149P
Q149P
I168N
I168N
A148A
A148A
H123H
H123H
R142T
R142T
T160D
T160D
V133*
V133*
L265fs
L265fs
V166*
V166*
G132V
G132V
T167K
T167K
D115S
D115S
T131-
T131-
K144F
K144F
G129V
G129V
F154G
F154G
R161R
R161R
K164K|G165-
K164K|G165-
N117P
N117P
I168V
I168V
M134C
M134C
A121R
A121R
R159R
R159R
T167-
T167-
G132I
G132I
F154I
F154I
I168R
I168R
A151fs
A151fs
I122M
I122M
A126D
A126D
Y138S
Y138S
K128G
K128G
D153V
D153V
G165-
G165-
R161F
R161F
A126G|G127-
A126G|G127-
R159T
R159T
A120V
A120V
L140G
L140G
A120R
A120R
A148M
A148M
T160Q
T160Q
G127T
G127T
C124K
C124K
K125H
K125H
S113R|E114-
S113R|E114-
T160T|R161-
T160T|R161-
A137S
A137S
I122*
I122*
E114E
E114E
G156N
G156N
A121fs
A121fs
L112N
L112N
G156I
G156I
G156A
G156A
L112fs
L112fs
Q149V
Q149V
C136R
C136R
K125L
K125L
K163K|K164-
K163K|K164-
V133S
V133S
G127W
G127W
L152L
L152L
I135Y
I135Y
T160K
T160K
I122T
I122T
D162K
D162K
A126G
A126G
V166L
V166L
V166R
V166R
G127L
G127L
E157D
E157D
L112L|S113-
L112L|S113-
I168A
I168A
A137V
A137V
H123Q
H123Q
S170V
S170V
T160R|R161-
T160R|R161-
A121G
A121G
D116Y
D116Y
K128K|G129-
K128K|G129-
Q149D
Q149D
G129G
G129G
L146P
L146P
V133P
V133P
Q171Y
Q171Y
H141P
H141P
P169Y
P169Y
R161D
R161D
T167P
T167P
S170M
S170M
D153I
D153I
D115Y
D115Y
G127C
G127C
F154Y
F154Y
G143R
G143R
R142S
R142S
S170D
S170D
A151K
A151K
A126N
A126N
A126fs
A126fs
A121*
A121*
V133V|M134-
V133V|M134-
G143C
G143C
Q149fs
Q149fs
H123R
H123R
D116G
D116G
G143A
G143A
D162D
D162D
Y155K
Y155K
M134H
M134H
R130Q
R130Q
E157A
E157A
E114Q
E114Q
A137G
A137G
R159F
R159F
E114M
E114M
I168Q
I168Q
V119Q
V119Q
A137R
A137R
Y155R
Y155R
E157H
E157H
A137E
A137E
E150fs
E150fs
K147N
K147N
V166E
V166E
L140H
L140H
K125P
K125P
D162N
D162N
V166C
V166C
H123N
H123N
T131L
T131L
T131E
T131E
A120K
A120K
S170fs
S170fs
D153D
D153D
R159Y
R159Y
I168Y
I168Y
K128T
K128T
A137H
A137H
E157E
E157E
Y155*|G156-
Y155*|G156-
R172S|R173-
R172S|R173-
K147L
K147L
A151E
A151E
Y138H
Y138H
V166P
V166P
H118H
H118H
Y138T
Y138T
G165H
G165H
I122F
I122F
K144fs
K144fs
L139fs
L139fs
K164D
K164D
E150Q
E150Q
V166A|T167-
V166A|T167-
P169F
P169F
L112Y
L112Y
K144N
K144N
R142I
R142I
Q149S
Q149S
D115D
D115D
H141C
H141C
Q149F
Q149F
G143T
G143T
K128fs
K128fs
Y138I
Y138I
D162L
D162L
L152L|D153-
L152L|D153-
A121V
A121V
K163M
K163M
C124-
C124-
A137W
A137W
K144R
K144R
T167Y
T167Y
R130F
R130F
H118Q
H118Q
E150N
E150N
K6fs
K6fs
L152H
L152H
T160I
T160I
V133fs
V133fs
K144P
K144P
L139N
L139N
G129C
G129C
K125E
K125E
K144L
K144L
Y138L
Y138L
D153F
D153F
K163A
K163A
K125N|A126-
K125N|A126-
F145Q
F145Q
I135C
I135C
I122N
I122N
L140V
L140V
V133N
V133N
R159-
R159-
Q171D
Q171D
K147Y
K147Y
K147T
K147T
G129-
G129-
F145G
F145G
K144Q
K144Q
R130R
R130R
F154E
F154E
V158fs
V158fs
G165T
G165T
G143P
G143P
K144*
K144*
Y155T
Y155T
I135D
I135D
F154D
F154D
K144-
K144-
F145S
F145S
C124D
C124D
L152*
L152*
G156*
G156*
H123E
H123E
L140fs
L140fs
C136V
C136V
L139T
L139T
E150D
E150D
G127M
G127M
G127E|K128-
G127E|K128-
F154S
F154S
L146Q
L146Q
A148*
A148*
I122K
I122K
V119A|A120-
V119A|A120-
A137F
A137F
T167I
T167I
K164L
K164L
N117F
N117F
G156Y
G156Y
K164M
K164M
S113I
S113I
K164F
K164F
H123G
H123G
A120W
A120W
V158H
V158H
R234fs
R234fs
S113K|E114-
S113K|E114-
Y138N
Y138N
K164A
K164A
K164*
K164*
A120I
A120I
K128P
K128P
D162P
D162P
A148Y
A148Y
L139W
L139W
V133L
V133L
A121F
A121F
D116V
D116V
D115Q
D115Q
R130M
R130M
V158V
V158V
V119T
V119T
Q149Q
Q149Q
R159D
R159D
D115D|D116-
D115D|D116-
Y155F
Y155F
P169R
P169R
L152fs
L152fs
A121S
A121S
R159M
R159M
G143*
G143*
K147S
K147S
S113N
S113N
E157K
E157K
V119L
V119L
I168W
I168W
R161P
R161P
H141I
H141I
I168H
I168H
T131G
T131G
G129K
G129K
I135N
I135N
L146S
L146S
I122I
I122I
K144V
K144V
T131S
T131S
M134W
M134W
G156L
G156L
I168C
I168C
I135F
I135F
D162I
D162I
Q171T
Q171T
A137A|Y138-
A137A|Y138-
H118K
H118K
G156H
G156H
E150F
E150F
H141Q
H141Q
V158M
V158M
R159L
R159L
R161N
R161N
Q171fs
Q171fs
L152P
L152P
A148P
A148P
Q171M
Q171M
I135fs
I135fs
R172R
R172R
E114D|D115-
E114D|D115-
K164E
K164E
P169S
P169S
D115F
D115F
K144C
K144C
Single Missense
Cluster 7
Cluster 3
Cluster 5
Cluster 9
Cluster 8
Cluster 10
Synonymous
Cluster 1
Cluster 6
Frameshift
Cluster 2
ASD/DD
3nt Deletion
Cluster 4
gnomAD controls
PHTS
Somatic cancer
ClinVar: LP
Nonsense
ClinVar: P
ClinVar: LB
0
30
60
90
120
-15
-10
-5
0
5
10
15
20
External link
D115M
D115M
G132R
G132R
K144W
K144W
H123T
H123T
V119R
V119R
T167E
T167E
T131F
T131F
K163K
K163K
R130E
R130E
M134S
M134S
A121I
A121I
K147C
K147C
L139E
L139E
G143F
G143F
V119S
V119S
E157fs
E157fs
L146R
L146R
V158D
V158D
K163E
K163E
G156R
G156R
H141F
H141F
F145-
F145-
L139H
L139H
L139I
L139I
F154M
F154M
V158Y
V158Y
K125G
K125G
G156fs
G156fs
D116N
D116N
D153W
D153W
D115L
D115L
A148R
A148R
R173fs
R173fs
I135R
I135R
D116K
D116K
E157L
E157L
G165Q
G165Q
P169P|S170-
P169P|S170-
K147fs
K147fs
V119I
V119I
I135E
I135E
A151D
A151D
G132N
G132N
E114C
E114C
Q171N
Q171N
I168F
I168F
D162S
D162S
G129L
G129L
H141E
H141E
E150Y
E150Y
L152R
L152R
L146D
L146D
K128C
K128C
A121K
A121K
D115E
D115E
E114G
E114G
T160N
T160N
Q149M
Q149M
S170N
S170N
C124V
C124V
I168T
I168T
Q149I
Q149I
V158F
V158F
H141A
H141A
K128V
K128V
H141K
H141K
P169I
P169I
Y138M
Y138M
K128S
K128S
K147Q
K147Q
C136W
C136W
K125D
K125D
D162-
D162-
Q149L
Q149L
K128I
K128I
S170K|Q171-
S170K|Q171-
E157V|V158-
E157V|V158-
Y138V
Y138V
I122C
I122C
D153Y
D153Y
S170*
S170*
G127D
G127D
G165R
G165R
E288fs
E288fs
L152Y
L152Y
E114H
E114H
K128-
K128-
L140Q
L140Q
W111fs
W111fs
G129F
G129F
A120N
A120N
A121T
A121T
K144S
K144S
G143G|K144-
G143G|K144-
F145E
F145E
A120Q
A120Q
L112R
L112R
G143N
G143N
K144K
K144K
C124A
C124A
E157M
E157M
G129P
G129P
H123M
H123M
C124S
C124S
F154Y|Y155-
F154Y|Y155-
K147W
K147W
A121W
A121W
P169-
P169-
K164N
K164N
T160F
T160F
D162T
D162T
D115H
D115H
G132V|V133-
G132V|V133-
K164G
K164G
V119*
V119*
E150I
E150I
G156G
G156G
T167fs
T167fs
E157I
E157I
Y138W
Y138W
K164R
K164R
Q149G
Q149G
L140-
L140-
V158G
V158G
E150G
E150G
D116D
D116D
T167M
T167M
D153L
D153L
C124Y
C124Y
R161W
R161W
A120F
A120F
I135V
I135V
D115*
D115*
Y138P
Y138P
T131T
T131T
F145A
F145A
H141T
H141T
F145D
F145D
L112C
L112C
N117N
N117N
R172-
R172-
L140S
L140S
D153K
D153K
L146*
L146*
N117Y
N117Y
D153T
D153T
K163F
K163F
R142K
R142K
V166A
V166A
A126F
A126F
E150H
E150H
H118W
H118W
L112*
L112*
H141-
H141-
I122Q
I122Q
K144M
K144M
D116T
D116T
V119K
V119K
A126W
A126W
P169*
P169*
I135G
I135G
I168*
I168*
K128W
K128W
A120D
A120D
A137Q
A137Q
N117R
N117R
R159S|T160-
R159S|T160-
L146V
L146V
V119W
V119W
D162M
D162M
T160Y
T160Y
Y155Y
Y155Y
I135W
I135W
D162fs
D162fs
R161I
R161I
G129H
G129H
T348fs
T348fs
N117S
N117S
I122-
I122-
P169R|S170-
P169R|S170-
T160C
T160C
A121-
A121-
S113Y
S113Y
G129W
G129W
F154T
F154T
I122E
I122E
E114D
E114D
R161*
R161*
V158A
V158A
A120C
A120C
L146I
L146I
C124*|K125-
C124*|K125-
A151V|L152-
A151V|L152-
F145fs
F145fs
L112K
L112K
E157P
E157P
E157C
E157C
L146N
L146N
R172G
R172G
R172L
R172L
G165*
G165*
R142L
R142L
V158W
V158W
D162W
D162W
V119H
V119H
Q171E
Q171E
D116M
D116M
P169C
P169C
L139*
L139*
M134*
M134*
S170R|Q171-
S170R|Q171-
K147M
K147M
K164P
K164P
C136S|A137-
C136S|A137-
L140K
L140K
Q149W
Q149W
R130T
R130T
R172V
R172V
R161S|D162-
R161S|D162-
A148D
A148D
K164S
K164S
G156C
G156C
K164Y
K164Y
G143G
G143G
D162V
D162V
Q171F
Q171F
D162G
D162G
S113D
S113D
I135A
I135A
I168I
I168I
M134F
M134F
G127G|K128-
G127G|K128-
E157G
E157G
N117*
N117*
R172F
R172F
P169W
P169W
Y138Q
Y138Q
G165I
G165I
V166S
V166S
R172C
R172C
V158T
V158T
A151A|L152-
A151A|L152-
R172M
R172M
Q171Q
Q171Q
T131*
T131*
R130I
R130I
D115A
D115A
V166fs
V166fs
T160A
T160A
T160R
T160R
V133C
V133C
R161S
R161S
P169A
P169A
E150V
E150V
S170Y
S170Y
S113S
S113S
D162*
D162*
G156T
G156T
E114-
E114-
A137A
A137A
L140W
L140W
T167Q
T167Q
T167L
T167L
R159P
R159P
K125W
K125W
F56fs
F56fs
Y174fs
Y174fs
G143V
G143V
A151*
A151*
R161L
R161L
A151L
A151L
Q171W
Q171W
D115N
D115N
I122L
I122L
E157S
E157S
Y155G
Y155G
L112F
L112F
A126L
A126L
R159I
R159I
K128K
K128K
D115I
D115I
K125A
K125A
R142N
R142N
K128A
K128A
R161E
R161E
L140M
L140M
A151A
A151A
G129E
G129E
A120L
A120L
A151V
A151V
A148G
A148G
A126A|G127-
A126A|G127-
G132E
G132E
A126Q
A126Q
C136F
C136F
S170-
S170-
V158P
V158P
D116E
D116E
G165C
G165C
R130fs
R130fs
L140*
L140*
Q149K
Q149K
G165N
G165N
H118N
H118N
L112Q
L112Q
G165S
G165S
S170E
S170E
T160W
T160W
K164H
K164H
G129*
G129*
A148L
A148L
T131W
T131W
L152S
L152S
K128L
K128L
A126-
A126-
D116A
D116A
K164V
K164V
R161Y
R161Y
F145V
F145V
C124*
C124*
K125R
K125R
A121Y
A121Y
F145F
F145F
C136S
C136S
S113W
S113W
I168L
I168L
K147H
K147H
H118G
H118G
R159W
R159W
H123D
H123D
D153-
D153-
F145L
F145L
L139V
L139V
T167C
T167C
G132D
G132D
A137N
A137N
K147D
K147D
G143M
G143M
Y155A
Y155A
G132F
G132F
A137-
A137-
D116D|N117-
D116D|N117-
N117I
N117I
T167N
T167N
V133A
V133A
Y155H
Y155H
C124E
C124E
H123H|C124-
H123H|C124-
I135*
I135*
A151S
A151S
S170W
S170W
D153*
D153*
A120S
A120S
L152G
L152G
N117T
N117T
I122R
I122R
R142W
R142W
A151Q
A151Q
L152M
L152M
L146M
L146M
A126I
A126I
V166F
V166F
G132-
G132-
E157F
E157F
A151C
A151C
T167*
T167*
Q149Q|E150-
Q149Q|E150-
P169L
P169L
T131I
T131I
G129Y
G129Y
V133V
V133V
C124C
C124C
R172I
R172I
V166K
V166K
H118T
H118T
L139M
L139M
K125Y
K125Y
R161H
R161H
S170Q
S170Q
L140T
L140T
Y155L
Y155L
G127R
G127R
K163S
K163S
A126V
A126V
A121D
A121D
P169Q
P169Q
E114A
E114A
R172*
R172*
E114P
E114P
T131C
T131C
C124T
C124T
A120E
A120E
V158Q
V158Q
Y138G
Y138G
A126A
A126A
G165K
G165K
A120M
A120M
C124I
C124I
D116P
D116P
Q149H
Q149H
K144D
K144D
H141R
H141R
C136E
C136E
A121A
A121A
K125N
K125N
P169K
P169K
I135S
I135S
P169T
P169T
A151R
A151R
L140L
L140L
D116Q
D116Q
K125M
K125M
K144E
K144E
V166Y
V166Y
D153G
D153G
L112I
L112I
E157W
E157W
I122P
I122P
M134Q
M134Q
D116H
D116H
C136-
C136-
A120fs
A120fs
V166Q
V166Q
S170F
S170F
C136K
C136K
H123K
H123K
L152E
L152E
M134L
M134L
L112S
L112S
C124M
C124M
H141fs
H141fs
Q171*
Q171*
I168-
I168-
M134R
M134R
F154W
F154W
F145*
F145*
D153N
D153N
K125K
K125K
V158S
V158S
Q171-
Q171-
K163W
K163W
R130D
R130D
C136fs
C136fs
R159A
R159A
I122N|H123-
I122N|H123-
D162H
D162H
A121H
A121H
I135M
I135M
Q149T
Q149T
D162Q
D162Q
A137L
A137L
Q171H
Q171H
H118D
H118D
K125*
K125*
R172fs
R172fs
E157V
E157V
A121C
A121C
T167W
T167W
K164fs
K164fs
S170G
S170G
G132T
G132T
V133M
V133M
T160V
T160V
F154-
F154-
K163T
K163T
F154F
F154F
Q149Y
Q149Y
D115P
D115P
E150D|A151-
E150D|A151-
A137Y
A137Y
E157N
E157N
I168E
I168E
R130L
R130L
H123Y
H123Y
T131S|G132-
T131S|G132-
H123I
H123I
G156E|E157-
G156E|E157-
G127fs
G127fs
V166-
V166-
Q171G
Q171G
K164I
K164I
A137C
A137C
T160G
T160G
L152H|D153-
L152H|D153-
T167I|I168-
T167I|I168-
R130P
R130P
K125-
K125-
G127I
G127I
I168fs
I168fs
L112L
L112L
R161A
R161A
A120T
A120T
R142F
R142F
A126C
A126C
R142M
R142M
C124R
C124R
F145P
F145P
D153M
D153M
L139Q
L139Q
K125V
K125V
H118R
H118R
E150L
E150L
K144H
K144H
H118P
H118P
R172S
R172S
A126Y
A126Y
G127P
G127P
G143I
G143I
K128R
K128R
E114Y
E114Y
R159T|T160-
R159T|T160-
A137I
A137I
L146A
L146A
L140P
L140P
L152D
L152D
A148S
A148S
M134-
M134-
F145M
F145M
H123W
H123W
F154fs
F154fs
I135P
I135P
G143L
G143L
D153P
D153P
N117K
N117K
Y155C
Y155C
R159G
R159G
Q171P
Q171P
E114K
E114K
L139F
L139F
Y155V
Y155V
L146L|K147-
L146L|K147-
D162R
D162R
I122Y
I122Y
H118*
H118*
H141H
H141H
L112A
L112A
T167G
T167G
R142E
R142E
K163Y
K163Y
L140I
L140I
I168G
I168G
I122A
I122A
K144I|F145-
K144I|F145-
Y155Q
Y155Q
L152Q
L152Q
R142R
R142R
C136G
C136G
R142H
R142H
C136I
C136I
K144I
K144I
V158E
V158E
L139Y
L139Y
V133G
V133G
D153fs
D153fs
T131Q
T131Q
V133E
V133E
A151N
A151N
K128E
K128E
R161M
R161M
V133I
V133I
A120Y
A120Y
K147*
K147*
D116F
D116F
T131M
T131M
K163V
K163V
D162A
D162A
M134V
M134V
L139A
L139A
G156D
G156D
S113T
S113T
G165L
G165L
T321fs
T321fs
Y138R
Y138R
C136*|A137-
C136*|A137-
V133H
V133H
C124F
C124F
D153C
D153C
V119D
V119D
Y155E
Y155E
L146E
L146E
R161fs
R161fs
V166D
V166D
R172N
R172N
G156M
G156M
G165V|V166-
G165V|V166-
Q149C
Q149C
C136T
C136T
H118L
H118L
M134I
M134I
V133T
V133T
G129Q
G129Q
G165Y
G165Y
A151G
A151G
G127K
G127K
L112D
L112D
G165E
G165E
G132C
G132C
R142R|G143-
R142R|G143-
L139R
L139R
E114F
E114F
S170T
S170T
A148T
A148T
L140A
L140A
I168D
I168D
I122S
I122S
M134E
M134E
V158G|R159-
V158G|R159-
Y138A
Y138A
C136Q
C136Q
V166I
V166I
R172A
R172A
R161Q
R161Q
A126*
A126*
G143D
G143D
E157T
E157T
A137D
A137D
R172K
R172K
R161T
R161T
D115C
D115C
Y155M
Y155M
R161C
R161C
C136D
C136D
L152F
L152F
H123V
H123V
A151W
A151W
M134N
M134N
Y138L|L139-
Y138L|L139-
A120G
A120G
G132P
G132P
L146Y
L146Y
H118E
H118E
T167H
T167H
I122I|H123-
I122I|H123-
S113H
S113H
S170P
S170P
K128Q
K128Q
F145H
F145H
R142*
R142*
V119N
V119N
C136N
C136N
C124L
C124L
H118-
H118-
H141S
H141S
P169E
P169E
R130S
R130S
V166V
V166V
T167A
T167A
T131P
T131P
A148Q
A148Q
M134I|I135-
M134I|I135-
E150P
E150P
C136P
C136P
V119A
V119A
H141R|R142-
H141R|R142-
T167S
T167S
E150A
E150A
S170K
S170K
G156W
G156W
R159V
R159V
Q149-
Q149-
L152K
L152K
L152A
L152A
H118I
H118I
H141N
H141N
Q171K
Q171K
L152N
L152N
A121E
A121E
G165G
G165G
I135H
I135H
Y138E
Y138E
C124P
C124P
R142V
R142V
G156-
G156-
A151M
A151M
T160M
T160M
T131H
T131H
G143Y
G143Y
V166G
V166G
V158N
V158N
E150K
E150K
V119P
V119P
C124G
C124G
F154V
F154V
L146K
L146K
K128D
K128D
K125T|A126-
K125T|A126-
Q149N
Q149N
L140R
L140R
R142fs
R142fs
N117E
N117E
Y155P
Y155P
S113P
S113P
D116R
D116R
L146W
L146W
Y155W
Y155W
A151H
A151H
H141Q|R142-
H141Q|R142-
L140D
L140D
Q171R|R172-
Q171R|R172-
Y155I
Y155I
A151P
A151P
F145C
F145C
T131Y
T131Y
H61fs
H61fs
V133W
V133W
A148fs
A148fs
V158-
V158-
P169G
P169G
Y138*
Y138*
R159fs
R159fs
R142G
R142G
D116*
D116*
M134fs
M134fs
S113fs
S113fs
L140F
L140F
R159Q
R159Q
T160P
T160P
L146fs
L146fs
K147G
K147G
G129I
G129I
S170A
S170A
L112V
L112V
G127S
G127S
C136C
C136C
Y138*|L139-
Y138*|L139-
L146F
L146F
H118V
H118V
D153Q
D153Q
C124H
C124H
L139K
L139K
Y155W|G156-
Y155W|G156-
A148K
A148K
F154Q
F154Q
K147F
K147F
S170I
S170I
K163-
K163-
D116I
D116I
R130N
R130N
G156P
G156P
I168P
I168P
R159H
R159H
H118F
H118F
R172Y
R172Y
A148N
A148N
K128R|G129-
K128R|G129-
G132Q
G132Q
R130W
R130W
L139G
L139G
D162E|K163-
D162E|K163-
S170C
S170C
E114R
E114R
I168K
I168K
F154L
F154L
F154F|Y155-
F154F|Y155-
A148I
A148I
R172E
R172E
K163*
K163*
L152I
L152I
F145L|L146-
F145L|L146-
P169V
P169V
R142A
R142A
L146L
L146L
D162F
D162F
P89fs
P89fs
L112M
L112M
D115R
D115R
Q171S
Q171S
K147R
K147R
V166W
V166W
T131fs
T131fs
L140C
L140C
P169fs
P169fs
A148F
A148F
Q171L
Q171L
A120P
A120P
R142D
R142D
E150*
E150*
F154R
F154R
F145Y
F145Y
H123L
H123L
Q171I
Q171I
Y138C
Y138C
N117M
N117M
G156G|E157-
G156G|E157-
R159N
R159N
A126S
A126S
T131R
T131R
V158I
V158I
A148W
A148W
F154*
F154*
D116L
D116L
Q149A
Q149A
T131D
T131D
C136H
C136H
G129M
G129M
G132Y
G132Y
L139D
L139D
D162C
D162C
H118Y
H118Y
H123C
H123C
F154K
F154K
V119V
V119V
H141W
H141W
K144N|F145-
K144N|F145-
V133Y
V133Y
R130C
R130C
G165F
G165F
G156V
G156V
G143H
G143H
C136*
C136*
L146T
L146T
D153A
D153A
M134A
M134A
K128F
K128F
K164T
K164T
Q171R
Q171R
K163C
K163C
K125F
K125F
I122W
I122W
G165D
G165D
T160fs
T160fs
F154P
F154P
N117A
N117A
G132A
G132A
P169P
P169P
K147K|A148-
K147K|A148-
E114V
E114V
K125fs
K125fs
R172H
R172H
C136A
C136A
A137K
A137K
S113F
S113F
K147I
K147I
R130A
R130A
L146G
L146G
P169H
P169H
K147T|A148-
K147T|A148-
H123R|C124-
H123R|C124-
H141G
H141G
T160E
T160E
D116C
D116C
C136Y
C136Y
G165A
G165A
R55fs
R55fs
R161K
R161K
D153E
D153E
M134T
M134T
D153H
D153H
Y155S
Y155S
H141D
H141D
F145T
F145T
R142Q
R142Q
A137P
A137P
Y155fs
Y155fs
I122H
I122H
E114S
E114S
V166M
V166M
G143-
G143-
H123P
H123P
V119F
V119F
G156E
G156E
R130K
R130K
D115W
D115W
F154H
F154H
S113R
S113R
T160H
T160H
G132fs
G132fs
H118M
H118M
E114L
E114L
F154C
F154C
K125C
K125C
Q171C
Q171C
A148E
A148E
S170H
S170H
V133R
V133R
E114I
E114I
G132K
G132K
A126M
A126M
D115G
D115G
A137T
A137T
I135K
I135K
L139P
L139P
R161N|D162-
R161N|D162-
L139C
L139C
K128N
K128N
G132S
G132S
G132H
G132H
F154A
F154A
L152W
L152W
V133Q
V133Q
R159S
R159S
G165V
G165V
R130-
R130-
A137D|Y138-
A137D|Y138-
G165fs
G165fs
T167F
T167F
R130H
R130H
D116W
D116W
C136M
C136M
D162E
D162E
I135I|C136-
I135I|C136-
L140E
L140E
V133D
V133D
I135Q
I135Q
K144T
K144T
G127V
G127V
K125Q
K125Q
G127A
G127A
I168T|P169-
I168T|P169-
K144Y
K144Y
R130Y
R130Y
K128M
K128M
H118fs
H118fs
I122fs
I122fs
V119-
V119-
G143fs
G143fs
G127H
G127H
K164W
K164W
L146C
L146C
G127E
G127E
S113Q
S113Q
Q149P
Q149P
I168N
I168N
A148A
A148A
H123H
H123H
R142T
R142T
T160D
T160D
V133*
V133*
L265fs
L265fs
V166*
V166*
G132V
G132V
T167K
T167K
D115S
D115S
T131-
T131-
K144F
K144F
G129V
G129V
F154G
F154G
R161R
R161R
K164K|G165-
K164K|G165-
N117P
N117P
I168V
I168V
M134C
M134C
A121R
A121R
R159R
R159R
T167-
T167-
G132I
G132I
F154I
F154I
I168R
I168R
A151fs
A151fs
I122M
I122M
A126D
A126D
Y138S
Y138S
K128G
K128G
D153V
D153V
G165-
G165-
R161F
R161F
A126G|G127-
A126G|G127-
R159T
R159T
A120V
A120V
L140G
L140G
A120R
A120R
A148M
A148M
T160Q
T160Q
G127T
G127T
C124K
C124K
K125H
K125H
S113R|E114-
S113R|E114-
T160T|R161-
T160T|R161-
A137S
A137S
I122*
I122*
E114E
E114E
G156N
G156N
A121fs
A121fs
L112N
L112N
G156I
G156I
G156A
G156A
L112fs
L112fs
Q149V
Q149V
C136R
C136R
K125L
K125L
K163K|K164-
K163K|K164-
V133S
V133S
G127W
G127W
L152L
L152L
I135Y
I135Y
T160K
T160K
I122T
I122T
D162K
D162K
A126G
A126G
V166L
V166L
V166R
V166R
G127L
G127L
E157D
E157D
L112L|S113-
L112L|S113-
I168A
I168A
A137V
A137V
H123Q
H123Q
S170V
S170V
T160R|R161-
T160R|R161-
A121G
A121G
D116Y
D116Y
K128K|G129-
K128K|G129-
Q149D
Q149D
G129G
G129G
L146P
L146P
V133P
V133P
Q171Y
Q171Y
H141P
H141P
P169Y
P169Y
R161D
R161D
T167P
T167P
S170M
S170M
D153I
D153I
D115Y
D115Y
G127C
G127C
F154Y
F154Y
G143R
G143R
R142S
R142S
S170D
S170D
A151K
A151K
A126N
A126N
A126fs
A126fs
A121*
A121*
V133V|M134-
V133V|M134-
G143C
G143C
Q149fs
Q149fs
H123R
H123R
D116G
D116G
G143A
G143A
D162D
D162D
Y155K
Y155K
M134H
M134H
R130Q
R130Q
E157A
E157A
E114Q
E114Q
A137G
A137G
R159F
R159F
E114M
E114M
I168Q
I168Q
V119Q
V119Q
A137R
A137R
Y155R
Y155R
E157H
E157H
A137E
A137E
E150fs
E150fs
K147N
K147N
V166E
V166E
L140H
L140H
K125P
K125P
D162N
D162N
V166C
V166C
H123N
H123N
T131L
T131L
T131E
T131E
A120K
A120K
S170fs
S170fs
D153D
D153D
R159Y
R159Y
I168Y
I168Y
K128T
K128T
A137H
A137H
E157E
E157E
Y155*|G156-
Y155*|G156-
R172S|R173-
R172S|R173-
K147L
K147L
A151E
A151E
Y138H
Y138H
V166P
V166P
H118H
H118H
Y138T
Y138T
G165H
G165H
I122F
I122F
K144fs
K144fs
L139fs
L139fs
K164D
K164D
E150Q
E150Q
V166A|T167-
V166A|T167-
P169F
P169F
L112Y
L112Y
K144N
K144N
R142I
R142I
Q149S
Q149S
D115D
D115D
H141C
H141C
Q149F
Q149F
G143T
G143T
K128fs
K128fs
Y138I
Y138I
D162L
D162L
L152L|D153-
L152L|D153-
A121V
A121V
K163M
K163M
C124-
C124-
A137W
A137W
K144R
K144R
T167Y
T167Y
R130F
R130F
H118Q
H118Q
E150N
E150N
K6fs
K6fs
L152H
L152H
T160I
T160I
V133fs
V133fs
K144P
K144P
L139N
L139N
G129C
G129C
K125E
K125E
K144L
K144L
Y138L
Y138L
D153F
D153F
K163A
K163A
K125N|A126-
K125N|A126-
F145Q
F145Q
I135C
I135C
I122N
I122N
L140V
L140V
V133N
V133N
R159-
R159-
Q171D
Q171D
K147Y
K147Y
K147T
K147T
G129-
G129-
F145G
F145G
K144Q
K144Q
R130R
R130R
F154E
F154E
V158fs
V158fs
G165T
G165T
G143P
G143P
K144*
K144*
Y155T
Y155T
I135D
I135D
F154D
F154D
K144-
K144-
F145S
F145S
C124D
C124D
L152*
L152*
G156*
G156*
H123E
H123E
L140fs
L140fs
C136V
C136V
L139T
L139T
E150D
E150D
G127M
G127M
G127E|K128-
G127E|K128-
F154S
F154S
L146Q
L146Q
A148*
A148*
I122K
I122K
V119A|A120-
V119A|A120-
A137F
A137F
T167I
T167I
K164L
K164L
N117F
N117F
G156Y
G156Y
K164M
K164M
S113I
S113I
K164F
K164F
H123G
H123G
A120W
A120W
V158H
V158H
R234fs
R234fs
S113K|E114-
S113K|E114-
Y138N
Y138N
K164A
K164A
K164*
K164*
A120I
A120I
K128P
K128P
D162P
D162P
A148Y
A148Y
L139W
L139W
V133L
V133L
A121F
A121F
D116V
D116V
D115Q
D115Q
R130M
R130M
V158V
V158V
V119T
V119T
Q149Q
Q149Q
R159D
R159D
D115D|D116-
D115D|D116-
Y155F
Y155F
P169R
P169R
L152fs
L152fs
A121S
A121S
R159M
R159M
G143*
G143*
K147S
K147S
S113N
S113N
E157K
E157K
V119L
V119L
I168W
I168W
R161P
R161P
H141I
H141I
I168H
I168H
T131G
T131G
G129K
G129K
I135N
I135N
L146S
L146S
I122I
I122I
K144V
K144V
T131S
T131S
M134W
M134W
G156L
G156L
I168C
I168C
I135F
I135F
D162I
D162I
Q171T
Q171T
A137A|Y138-
A137A|Y138-
H118K
H118K
G156H
G156H
E150F
E150F
H141Q
H141Q
V158M
V158M
R159L
R159L
R161N
R161N
Q171fs
Q171fs
L152P
L152P
A148P
A148P
Q171M
Q171M
I135fs
I135fs
R172R
R172R
E114D|D115-
E114D|D115-
K164E
K164E
P169S
P169S
D115F
D115F
K144C
K144C
Single Missense
Cluster 7
Cluster 3
Cluster 5
Cluster 9
Cluster 8
Cluster 10
Synonymous
Cluster 1
Cluster 6
Frameshift
Cluster 2
ASD/DD
3nt Deletion
Cluster 4
gnomAD controls
PHTS
Somatic cancer
ClinVar: LP
Nonsense
ClinVar: P
ClinVar: LB
1.0
10.0
100.0
-15
-10
-5
0
5
10
15
20
Log scale
Correlation Correlation DAPI mEGFP-PTEN
Per variant images
Variant Synonymous
Variant Frameshift