Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189868620T>ACA355755170TP63c.1033T>A (p.Cys345Ser)
c.751T>A (p.Cys251Ser)
c.496T>A (p.Cys166Ser)
n.857T>A
c.982T>A (p.Cys328Ser)
c.1030T>A (p.Cys344Ser)
c.1027T>A (p.Cys343Ser)
c.994T>A (p.Cys332Ser)
3g.189868620T>CCA118336TP63c.1033T>C (p.Cys345Arg)
c.751T>C (p.Cys251Arg)
c.496T>C (p.Cys166Arg)
n.857T>C
c.982T>C (p.Cys328Arg)
c.1030T>C (p.Cys344Arg)
c.1027T>C (p.Cys343Arg)
c.994T>C (p.Cys332Arg)
ClinVar dbSNP
3g.189868620T>GCA355755171TP63c.1033T>G (p.Cys345Gly)
c.751T>G (p.Cys251Gly)
c.496T>G (p.Cys166Gly)
n.857T>G
c.982T>G (p.Cys328Gly)
c.1030T>G (p.Cys344Gly)
c.1027T>G (p.Cys343Gly)
c.994T>G (p.Cys332Gly)
3g.189868620T=CA1428495762TP63c.1033T= (p.Cys345=)
c.751T= (p.Cys251=)
c.496T= (p.Cys166=)
n.857T=
c.982T= (p.Cys328=)
c.1030T= (p.Cys344=)
c.1027T= (p.Cys343=)
c.994T= (p.Cys332=)
3g.189868621G>ACA355755172TP63c.1034G>A (p.Cys345Tyr)
c.752G>A (p.Cys251Tyr)
c.497G>A (p.Cys166Tyr)
n.858G>A
c.983G>A (p.Cys328Tyr)
c.1031G>A (p.Cys344Tyr)
c.1028G>A (p.Cys343Tyr)
c.995G>A (p.Cys332Tyr)
3g.189868621G>CCA355755173TP63c.1034G>C (p.Cys345Ser)
c.752G>C (p.Cys251Ser)
c.497G>C (p.Cys166Ser)
n.858G>C
c.983G>C (p.Cys328Ser)
c.1031G>C (p.Cys344Ser)
c.1028G>C (p.Cys343Ser)
c.995G>C (p.Cys332Ser)
dbSNP
3g.189868621G>TCA355755174TP63c.1034G>T (p.Cys345Phe)
c.752G>T (p.Cys251Phe)
c.497G>T (p.Cys166Phe)
n.858G>T
c.983G>T (p.Cys328Phe)
c.1031G>T (p.Cys344Phe)
c.1028G>T (p.Cys343Phe)
c.995G>T (p.Cys332Phe)
ClinVar
3g.189868622T>ACA355755175TP63c.1035T>A (p.Cys345Ter)
c.753T>A (p.Cys251Ter)
c.498T>A (p.Cys166Ter)
n.859T>A
c.984T>A (p.Cys328Ter)
c.1032T>A (p.Cys344Ter)
c.1029T>A (p.Cys343Ter)
c.996T>A (p.Cys332Ter)
dbSNP
3g.189868622T>CCA437413464TP63c.1035T>C (p.Cys345=)
c.753T>C (p.Cys251=)
c.498T>C (p.Cys166=)
n.859T>C
c.984T>C (p.Cys328=)
c.1032T>C (p.Cys344=)
c.1029T>C (p.Cys343=)
c.996T>C (p.Cys332=)
3g.189868622T>GCA355755176TP63c.1035T>G (p.Cys345Trp)
c.753T>G (p.Cys251Trp)
c.498T>G (p.Cys166Trp)
n.859T>G
c.984T>G (p.Cys328Trp)
c.1032T>G (p.Cys344Trp)
c.1029T>G (p.Cys343Trp)
c.996T>G (p.Cys332Trp)
dbSNP
3g.189868623G>ACA355755177TP63c.1036G>A (p.Ala346Thr)
c.754G>A (p.Ala252Thr)
c.499G>A (p.Ala167Thr)
n.860G>A
c.985G>A (p.Ala329Thr)
c.1033G>A (p.Ala345Thr)
c.1030G>A (p.Ala344Thr)
c.997G>A (p.Ala333Thr)
dbSNP
3g.189868623G>CCA355755178TP63c.1036G>C (p.Ala346Pro)
c.754G>C (p.Ala252Pro)
c.499G>C (p.Ala167Pro)
n.860G>C
c.985G>C (p.Ala329Pro)
c.1033G>C (p.Ala345Pro)
c.1030G>C (p.Ala344Pro)
c.997G>C (p.Ala333Pro)
3g.189868623G=CA1428495771TP63c.1036G= (p.Ala346=)
c.754G= (p.Ala252=)
c.499G= (p.Ala167=)
n.860G=
c.985G= (p.Ala329=)
c.1033G= (p.Ala345=)
c.1030G= (p.Ala344=)
c.997G= (p.Ala333=)
3g.189868623G>TCA2752329TP63c.1036G>T (p.Ala346Ser)
c.754G>T (p.Ala252Ser)
c.499G>T (p.Ala167Ser)
n.860G>T
c.985G>T (p.Ala329Ser)
c.1033G>T (p.Ala345Ser)
c.1030G>T (p.Ala344Ser)
c.997G>T (p.Ala333Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868624C>ACA355755179TP63c.1037C>A (p.Ala346Asp)
c.755C>A (p.Ala252Asp)
c.500C>A (p.Ala167Asp)
n.861C>A
c.986C>A (p.Ala329Asp)
c.1034C>A (p.Ala345Asp)
c.1031C>A (p.Ala344Asp)
c.998C>A (p.Ala333Asp)
3g.189868624C=CA1428495781TP63c.1037C= (p.Ala346=)
c.755C= (p.Ala252=)
c.500C= (p.Ala167=)
n.861C=
c.986C= (p.Ala329=)
c.1034C= (p.Ala345=)
c.1031C= (p.Ala344=)
c.998C= (p.Ala333=)
3g.189868624C>GCA204448TP63c.1037C>G (p.Ala346Gly)
c.755C>G (p.Ala252Gly)
c.500C>G (p.Ala167Gly)
n.861C>G
c.986C>G (p.Ala329Gly)
c.1034C>G (p.Ala345Gly)
c.1031C>G (p.Ala344Gly)
c.998C>G (p.Ala333Gly)
ClinVar dbSNP
3g.189868624C>TCA355755180TP63c.1037C>T (p.Ala346Val)
c.755C>T (p.Ala252Val)
c.500C>T (p.Ala167Val)
n.861C>T
c.986C>T (p.Ala329Val)
c.1034C>T (p.Ala345Val)
c.1031C>T (p.Ala344Val)
c.998C>T (p.Ala333Val)
dbSNP
3g.189868625T>ACA437413474TP63c.1038T>A (p.Ala346=)
c.756T>A (p.Ala252=)
c.501T>A (p.Ala167=)
n.862T>A
c.987T>A (p.Ala329=)
c.1035T>A (p.Ala345=)
c.1032T>A (p.Ala344=)
c.999T>A (p.Ala333=)
3g.189868625T>CCA437413475TP63c.1038T>C (p.Ala346=)
c.756T>C (p.Ala252=)
c.501T>C (p.Ala167=)
n.862T>C
c.987T>C (p.Ala329=)
c.1035T>C (p.Ala345=)
c.1032T>C (p.Ala344=)
c.999T>C (p.Ala333=)
gnomAD v4
3g.189868625T>GCA437413477TP63c.1038T>G (p.Ala346=)
c.756T>G (p.Ala252=)
c.501T>G (p.Ala167=)
n.862T>G
c.987T>G (p.Ala329=)
c.1035T>G (p.Ala345=)
c.1032T>G (p.Ala344=)
c.999T>G (p.Ala333=)
3g.189868626T>ACA355755181TP63c.1039T>A (p.Cys347Ser)
c.757T>A (p.Cys253Ser)
c.502T>A (p.Cys168Ser)
n.863T>A
c.988T>A (p.Cys330Ser)
c.1036T>A (p.Cys346Ser)
c.1033T>A (p.Cys345Ser)
c.1000T>A (p.Cys334Ser)
3g.189868626T>CCA355755182TP63c.1039T>C (p.Cys347Arg)
c.757T>C (p.Cys253Arg)
c.502T>C (p.Cys168Arg)
n.863T>C
c.988T>C (p.Cys330Arg)
c.1036T>C (p.Cys346Arg)
c.1033T>C (p.Cys345Arg)
c.1000T>C (p.Cys334Arg)
ClinVar
3g.189868626T>GCA355755183TP63c.1039T>G (p.Cys347Gly)
c.757T>G (p.Cys253Gly)
c.502T>G (p.Cys168Gly)
n.863T>G
c.988T>G (p.Cys330Gly)
c.1036T>G (p.Cys346Gly)
c.1033T>G (p.Cys345Gly)
c.1000T>G (p.Cys334Gly)
3g.189868627G>ACA355755184TP63c.1040G>A (p.Cys347Tyr)
c.758G>A (p.Cys253Tyr)
c.503G>A (p.Cys168Tyr)
n.864G>A
c.989G>A (p.Cys330Tyr)
c.1037G>A (p.Cys346Tyr)
c.1034G>A (p.Cys345Tyr)
c.1001G>A (p.Cys334Tyr)
dbSNP
3g.189868627G>CCA355755185TP63c.1040G>C (p.Cys347Ser)
c.758G>C (p.Cys253Ser)
c.503G>C (p.Cys168Ser)
n.864G>C
c.989G>C (p.Cys330Ser)
c.1037G>C (p.Cys346Ser)
c.1034G>C (p.Cys345Ser)
c.1001G>C (p.Cys334Ser)
dbSNP
3g.189868627G=CA1428495787TP63c.1040G= (p.Cys347=)
c.758G= (p.Cys253=)
c.503G= (p.Cys168=)
n.864G=
c.989G= (p.Cys330=)
c.1037G= (p.Cys346=)
c.1034G= (p.Cys345=)
c.1001G= (p.Cys334=)
3g.189868627G>TCA16617858TP63c.1040G>T (p.Cys347Phe)
c.758G>T (p.Cys253Phe)
c.503G>T (p.Cys168Phe)
n.864G>T
c.989G>T (p.Cys330Phe)
c.1037G>T (p.Cys346Phe)
c.1034G>T (p.Cys345Phe)
c.1001G>T (p.Cys334Phe)
ClinVar dbSNP
3g.189868628C>ACA355755186TP63c.1041C>A (p.Cys347Ter)
c.759C>A (p.Cys253Ter)
c.504C>A (p.Cys168Ter)
n.865C>A
c.990C>A (p.Cys330Ter)
c.1038C>A (p.Cys346Ter)
c.1035C>A (p.Cys345Ter)
c.1002C>A (p.Cys334Ter)
dbSNP
3g.189868628C>GCA355755187TP63c.1041C>G (p.Cys347Trp)
c.759C>G (p.Cys253Trp)
c.504C>G (p.Cys168Trp)
n.865C>G
c.990C>G (p.Cys330Trp)
c.1038C>G (p.Cys346Trp)
c.1035C>G (p.Cys345Trp)
c.1002C>G (p.Cys334Trp)
dbSNP
3g.189868628C>TCA437413487TP63c.1041C>T (p.Cys347=)
c.759C>T (p.Cys253=)
c.504C>T (p.Cys168=)
n.865C>T
c.990C>T (p.Cys330=)
c.1038C>T (p.Cys346=)
c.1035C>T (p.Cys345=)
c.1002C>T (p.Cys334=)
dbSNP
3g.189868629C>ACA355755188TP63c.1042C>A (p.Pro348Thr)
c.760C>A (p.Pro254Thr)
c.505C>A (p.Pro169Thr)
n.866C>A
c.991C>A (p.Pro331Thr)
c.1039C>A (p.Pro347Thr)
c.1036C>A (p.Pro346Thr)
c.1003C>A (p.Pro335Thr)
3g.189868629C=CA1428495797TP63c.1042C= (p.Pro348=)
c.760C= (p.Pro254=)
c.505C= (p.Pro169=)
n.866C=
c.991C= (p.Pro331=)
c.1039C= (p.Pro347=)
c.1036C= (p.Pro346=)
c.1003C= (p.Pro335=)
3g.189868629C>GCA355755189TP63c.1042C>G (p.Pro348Ala)
c.760C>G (p.Pro254Ala)
c.505C>G (p.Pro169Ala)
n.866C>G
c.991C>G (p.Pro331Ala)
c.1039C>G (p.Pro347Ala)
c.1036C>G (p.Pro346Ala)
c.1003C>G (p.Pro335Ala)
ClinVar dbSNP
3g.189868629C>TCA355755190TP63c.1042C>T (p.Pro348Ser)
c.760C>T (p.Pro254Ser)
c.505C>T (p.Pro169Ser)
n.866C>T
c.991C>T (p.Pro331Ser)
c.1039C>T (p.Pro347Ser)
c.1036C>T (p.Pro346Ser)
c.1003C>T (p.Pro335Ser)
dbSNP
3g.189868630C>ACA355755192TP63c.1043C>A (p.Pro348Gln)
c.761C>A (p.Pro254Gln)
c.506C>A (p.Pro169Gln)
n.867C>A
c.992C>A (p.Pro331Gln)
c.1040C>A (p.Pro347Gln)
c.1037C>A (p.Pro346Gln)
c.1004C>A (p.Pro335Gln)
dbSNP
3g.189868630C=CA1428495805TP63c.1043C= (p.Pro348=)
c.761C= (p.Pro254=)
c.506C= (p.Pro169=)
n.867C=
c.992C= (p.Pro331=)
c.1040C= (p.Pro347=)
c.1037C= (p.Pro346=)
c.1004C= (p.Pro335=)
3g.189868630C>GCA355755193TP63c.1043C>G (p.Pro348Arg)
c.761C>G (p.Pro254Arg)
c.506C>G (p.Pro169Arg)
n.867C>G
c.992C>G (p.Pro331Arg)
c.1040C>G (p.Pro347Arg)
c.1037C>G (p.Pro346Arg)
c.1004C>G (p.Pro335Arg)
dbSNP
3g.189868630C>TCA355755191TP63c.1043C>T (p.Pro348Leu)
c.761C>T (p.Pro254Leu)
c.506C>T (p.Pro169Leu)
n.867C>T
c.992C>T (p.Pro331Leu)
c.1040C>T (p.Pro347Leu)
c.1037C>T (p.Pro346Leu)
c.1004C>T (p.Pro335Leu)
ClinVar dbSNP
3g.189868631A=CA1428495807TP63c.1044A= (p.Pro348=)
c.762A= (p.Pro254=)
c.507A= (p.Pro169=)
n.868A=
c.993A= (p.Pro331=)
c.1041A= (p.Pro347=)
c.1038A= (p.Pro346=)
c.1005A= (p.Pro335=)
3g.189868631A>CCA437413498TP63c.1044A>C (p.Pro348=)
c.762A>C (p.Pro254=)
c.507A>C (p.Pro169=)
n.868A>C
c.993A>C (p.Pro331=)
c.1041A>C (p.Pro347=)
c.1038A>C (p.Pro346=)
c.1005A>C (p.Pro335=)
3g.189868631A>GCA2752330TP63c.1044A>G (p.Pro348=)
c.762A>G (p.Pro254=)
c.507A>G (p.Pro169=)
n.868A>G
c.993A>G (p.Pro331=)
c.1041A>G (p.Pro347=)
c.1038A>G (p.Pro346=)
c.1005A>G (p.Pro335=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868631A>TCA437413496TP63c.1044A>T (p.Pro348=)
c.762A>T (p.Pro254=)
c.507A>T (p.Pro169=)
n.868A>T
c.993A>T (p.Pro331=)
c.1041A>T (p.Pro347=)
c.1038A>T (p.Pro346=)
c.1005A>T (p.Pro335=)
dbSNP
3g.189868632G>ACA355755194TP63c.1045G>A (p.Gly349Arg)
c.763G>A (p.Gly255Arg)
c.508G>A (p.Gly170Arg)
n.869G>A
c.994G>A (p.Gly332Arg)
c.1042G>A (p.Gly348Arg)
c.1039G>A (p.Gly347Arg)
c.1006G>A (p.Gly336Arg)
3g.189868632G>CCA355755196TP63c.1045G>C (p.Gly349Arg)
c.763G>C (p.Gly255Arg)
c.508G>C (p.Gly170Arg)
n.869G>C
c.994G>C (p.Gly332Arg)
c.1042G>C (p.Gly348Arg)
c.1039G>C (p.Gly347Arg)
c.1006G>C (p.Gly336Arg)
dbSNP
3g.189868632G>TCA355755195TP63c.1045G>T (p.Gly349Ter)
c.763G>T (p.Gly255Ter)
c.508G>T (p.Gly170Ter)
n.869G>T
c.994G>T (p.Gly332Ter)
c.1042G>T (p.Gly348Ter)
c.1039G>T (p.Gly347Ter)
c.1006G>T (p.Gly336Ter)
dbSNP
3g.189868633G>ACA89746706TP63c.1046G>A (p.Gly349Glu)
c.764G>A (p.Gly255Glu)
c.509G>A (p.Gly170Glu)
n.870G>A
c.995G>A (p.Gly332Glu)
c.1043G>A (p.Gly348Glu)
c.1040G>A (p.Gly347Glu)
c.1007G>A (p.Gly336Glu)
dbSNP COSMIC COSMIC COSMIC
3g.189868633G>CCA355755198TP63c.1046G>C (p.Gly349Ala)
c.764G>C (p.Gly255Ala)
c.509G>C (p.Gly170Ala)
n.870G>C
c.995G>C (p.Gly332Ala)
c.1043G>C (p.Gly348Ala)
c.1040G>C (p.Gly347Ala)
c.1007G>C (p.Gly336Ala)
dbSNP COSMIC COSMIC COSMIC
3g.189868633G=CA1428495813TP63c.1046G= (p.Gly349=)
c.764G= (p.Gly255=)
c.509G= (p.Gly170=)
n.870G=
c.995G= (p.Gly332=)
c.1043G= (p.Gly348=)
c.1040G= (p.Gly347=)
c.1007G= (p.Gly336=)
3g.189868633G>TCA355755197TP63c.1046G>T (p.Gly349Val)
c.764G>T (p.Gly255Val)
c.509G>T (p.Gly170Val)
n.870G>T
c.995G>T (p.Gly332Val)
c.1043G>T (p.Gly348Val)
c.1040G>T (p.Gly347Val)
c.1007G>T (p.Gly336Val)
3g.189868634A>CCA437413507TP63c.1047A>C (p.Gly349=)
c.765A>C (p.Gly255=)
c.510A>C (p.Gly170=)
n.871A>C
c.996A>C (p.Gly332=)
c.1044A>C (p.Gly348=)
c.1041A>C (p.Gly347=)
c.1008A>C (p.Gly336=)
3g.189868634A>GCA437413509TP63c.1047A>G (p.Gly349=)
c.765A>G (p.Gly255=)
c.510A>G (p.Gly170=)
n.871A>G
c.996A>G (p.Gly332=)
c.1044A>G (p.Gly348=)
c.1041A>G (p.Gly347=)
c.1008A>G (p.Gly336=)
3g.189868634A>TCA437413511TP63c.1047A>T (p.Gly349=)
c.765A>T (p.Gly255=)
c.510A>T (p.Gly170=)
n.871A>T
c.996A>T (p.Gly332=)
c.1044A>T (p.Gly348=)
c.1041A>T (p.Gly347=)
c.1008A>T (p.Gly336=)
3g.189868635A=CA1428495825TP63c.1048A= (p.Arg350=)
c.766A= (p.Arg256=)
c.511A= (p.Arg171=)
n.872A=
c.997A= (p.Arg333=)
c.1045A= (p.Arg349=)
c.1042A= (p.Arg348=)
c.1009A= (p.Arg337=)
3g.189868635A>CCA437413513TP63c.1048A>C (p.Arg350=)
c.766A>C (p.Arg256=)
c.511A>C (p.Arg171=)
n.872A>C
c.997A>C (p.Arg333=)
c.1045A>C (p.Arg349=)
c.1042A>C (p.Arg348=)
c.1009A>C (p.Arg337=)
3g.189868635A>GCA16042468TP63c.1048A>G (p.Arg350Gly)
c.766A>G (p.Arg256Gly)
c.511A>G (p.Arg171Gly)
n.872A>G
c.997A>G (p.Arg333Gly)
c.1045A>G (p.Arg349Gly)
c.1042A>G (p.Arg348Gly)
c.1009A>G (p.Arg337Gly)
ClinVar dbSNP
3g.189868635A>TCA355755199TP63c.1048A>T (p.Arg350Ter)
c.766A>T (p.Arg256Ter)
c.511A>T (p.Arg171Ter)
n.872A>T
c.997A>T (p.Arg333Ter)
c.1045A>T (p.Arg349Ter)
c.1042A>T (p.Arg348Ter)
c.1009A>T (p.Arg337Ter)
dbSNP
3g.189868636G>ACA355755200TP63c.1049G>A (p.Arg350Lys)
c.767G>A (p.Arg256Lys)
c.512G>A (p.Arg171Lys)
n.873G>A
c.998G>A (p.Arg333Lys)
c.1046G>A (p.Arg349Lys)
c.1043G>A (p.Arg348Lys)
c.1010G>A (p.Arg337Lys)
dbSNP COSMIC COSMIC COSMIC
3g.189868636G>CCA355755202TP63c.1049G>C (p.Arg350Thr)
c.767G>C (p.Arg256Thr)
c.512G>C (p.Arg171Thr)
n.873G>C
c.998G>C (p.Arg333Thr)
c.1046G>C (p.Arg349Thr)
c.1043G>C (p.Arg348Thr)
c.1010G>C (p.Arg337Thr)
dbSNP COSMIC COSMIC COSMIC
3g.189868636G>TCA355755201TP63c.1049G>T (p.Arg350Ile)
c.767G>T (p.Arg256Ile)
c.512G>T (p.Arg171Ile)
n.873G>T
c.998G>T (p.Arg333Ile)
c.1046G>T (p.Arg349Ile)
c.1043G>T (p.Arg348Ile)
c.1010G>T (p.Arg337Ile)
COSMIC COSMIC COSMIC
3g.189868637A>CCA355755203TP63c.1050A>C (p.Arg350Ser)
c.768A>C (p.Arg256Ser)
c.513A>C (p.Arg171Ser)
n.874A>C
c.999A>C (p.Arg333Ser)
c.1047A>C (p.Arg349Ser)
c.1044A>C (p.Arg348Ser)
c.1011A>C (p.Arg337Ser)
3g.189868637A>GCA437413521TP63c.1050A>G (p.Arg350=)
c.768A>G (p.Arg256=)
c.513A>G (p.Arg171=)
n.874A>G
c.999A>G (p.Arg333=)
c.1047A>G (p.Arg349=)
c.1044A>G (p.Arg348=)
c.1011A>G (p.Arg337=)
3g.189868637A>TCA355755204TP63c.1050A>T (p.Arg350Ser)
c.768A>T (p.Arg256Ser)
c.513A>T (p.Arg171Ser)
n.874A>T
c.999A>T (p.Arg333Ser)
c.1047A>T (p.Arg349Ser)
c.1044A>T (p.Arg348Ser)
c.1011A>T (p.Arg337Ser)
ClinVar dbSNP
3g.189868638G>ACA355755205TP63c.1051G>A (p.Asp351Asn)
c.769G>A (p.Asp257Asn)
c.514G>A (p.Asp172Asn)
n.875G>A
c.1000G>A (p.Asp334Asn)
c.1048G>A (p.Asp350Asn)
c.1045G>A (p.Asp349Asn)
c.1012G>A (p.Asp338Asn)
3g.189868638G>CCA355755206TP63c.1051G>C (p.Asp351His)
c.769G>C (p.Asp257His)
c.514G>C (p.Asp172His)
n.875G>C
c.1000G>C (p.Asp334His)
c.1048G>C (p.Asp350His)
c.1045G>C (p.Asp349His)
c.1012G>C (p.Asp338His)
dbSNP
3g.189868638G>TCA355755207TP63c.1051G>T (p.Asp351Tyr)
c.769G>T (p.Asp257Tyr)
c.514G>T (p.Asp172Tyr)
n.875G>T
c.1000G>T (p.Asp334Tyr)
c.1048G>T (p.Asp350Tyr)
c.1045G>T (p.Asp349Tyr)
c.1012G>T (p.Asp338Tyr)
3g.189868639A=CA1428495839TP63c.1052A= (p.Asp351=)
c.770A= (p.Asp257=)
c.515A= (p.Asp172=)
n.876A=
c.1001A= (p.Asp334=)
c.1049A= (p.Asp350=)
c.1046A= (p.Asp349=)
c.1013A= (p.Asp338=)
3g.189868639A>CCA355755208TP63c.1052A>C (p.Asp351Ala)
c.770A>C (p.Asp257Ala)
c.515A>C (p.Asp172Ala)
n.876A>C
c.1001A>C (p.Asp334Ala)
c.1049A>C (p.Asp350Ala)
c.1046A>C (p.Asp349Ala)
c.1013A>C (p.Asp338Ala)
3g.189868639A>GCA118341TP63c.1052A>G (p.Asp351Gly)
c.770A>G (p.Asp257Gly)
c.515A>G (p.Asp172Gly)
n.876A>G
c.1001A>G (p.Asp334Gly)
c.1049A>G (p.Asp350Gly)
c.1046A>G (p.Asp349Gly)
c.1013A>G (p.Asp338Gly)
ClinVar dbSNP
3g.189868639A>TCA355755209TP63c.1052A>T (p.Asp351Val)
c.770A>T (p.Asp257Val)
c.515A>T (p.Asp172Val)
n.876A>T
c.1001A>T (p.Asp334Val)
c.1049A>T (p.Asp350Val)
c.1046A>T (p.Asp349Val)
c.1013A>T (p.Asp338Val)
dbSNP
3g.189868640C>ACA355755210TP63c.1053C>A (p.Asp351Glu)
c.771C>A (p.Asp257Glu)
c.516C>A (p.Asp172Glu)
n.877C>A
c.1002C>A (p.Asp334Glu)
c.1050C>A (p.Asp350Glu)
c.1047C>A (p.Asp349Glu)
c.1014C>A (p.Asp338Glu)
3g.189868640C>GCA355755211TP63c.1053C>G (p.Asp351Glu)
c.771C>G (p.Asp257Glu)
c.516C>G (p.Asp172Glu)
n.877C>G
c.1002C>G (p.Asp334Glu)
c.1050C>G (p.Asp350Glu)
c.1047C>G (p.Asp349Glu)
c.1014C>G (p.Asp338Glu)
dbSNP
3g.189868640C>TCA437413530TP63c.1053C>T (p.Asp351=)
c.771C>T (p.Asp257=)
c.516C>T (p.Asp172=)
n.877C>T
c.1002C>T (p.Asp334=)
c.1050C>T (p.Asp350=)
c.1047C>T (p.Asp349=)
c.1014C>T (p.Asp338=)
dbSNP gnomAD v4
3g.189868641A=CA1428495849TP63c.1054A= (p.Arg352=)
c.772A= (p.Arg258=)
c.517A= (p.Arg173=)
n.878A=
c.1003A= (p.Arg335=)
c.1051A= (p.Arg351=)
c.1048A= (p.Arg350=)
c.1015A= (p.Arg339=)
3g.189868641A>CCA437413531TP63c.1054A>C (p.Arg352=)
c.772A>C (p.Arg258=)
c.517A>C (p.Arg173=)
n.878A>C
c.1003A>C (p.Arg335=)
c.1051A>C (p.Arg351=)
c.1048A>C (p.Arg350=)
c.1015A>C (p.Arg339=)
3g.189868641A>GCA118344TP63c.1054A>G (p.Arg352Gly)
c.772A>G (p.Arg258Gly)
c.517A>G (p.Arg173Gly)
n.878A>G
c.1003A>G (p.Arg335Gly)
c.1051A>G (p.Arg351Gly)
c.1048A>G (p.Arg350Gly)
c.1015A>G (p.Arg339Gly)
ClinVar dbSNP
3g.189868641A>TCA355755212TP63c.1054A>T (p.Arg352Trp)
c.772A>T (p.Arg258Trp)
c.517A>T (p.Arg173Trp)
n.878A>T
c.1003A>T (p.Arg335Trp)
c.1051A>T (p.Arg351Trp)
c.1048A>T (p.Arg350Trp)
c.1015A>T (p.Arg339Trp)
dbSNP
3g.189868642G>ACA2752331TP63c.1055G>A (p.Arg352Lys)
c.773G>A (p.Arg258Lys)
c.518G>A (p.Arg173Lys)
n.879G>A
c.1004G>A (p.Arg335Lys)
c.1052G>A (p.Arg351Lys)
c.1049G>A (p.Arg350Lys)
c.1016G>A (p.Arg339Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868642G>CCA355755213TP63c.1055G>C (p.Arg352Thr)
c.773G>C (p.Arg258Thr)
c.518G>C (p.Arg173Thr)
n.879G>C
c.1004G>C (p.Arg335Thr)
c.1052G>C (p.Arg351Thr)
c.1049G>C (p.Arg350Thr)
c.1016G>C (p.Arg339Thr)
dbSNP
3g.189868642G=CA1428495858TP63c.1055G= (p.Arg352=)
c.773G= (p.Arg258=)
c.518G= (p.Arg173=)
n.879G=
c.1004G= (p.Arg335=)
c.1052G= (p.Arg351=)
c.1049G= (p.Arg350=)
c.1016G= (p.Arg339=)
3g.189868642G>TCA355755214TP63c.1055G>T (p.Arg352Met)
c.773G>T (p.Arg258Met)
c.518G>T (p.Arg173Met)
n.879G>T
c.1004G>T (p.Arg335Met)
c.1052G>T (p.Arg351Met)
c.1049G>T (p.Arg350Met)
c.1016G>T (p.Arg339Met)
3g.189868643G>ACA437413540TP63c.1056G>A (p.Arg352=)
c.774G>A (p.Arg258=)
c.519G>A (p.Arg173=)
n.880G>A
c.1005G>A (p.Arg335=)
c.1053G>A (p.Arg351=)
c.1050G>A (p.Arg350=)
c.1017G>A (p.Arg339=)
dbSNP
3g.189868643G>CCA355755215TP63c.1056G>C (p.Arg352Ser)
c.774G>C (p.Arg258Ser)
c.519G>C (p.Arg173Ser)
n.880G>C
c.1005G>C (p.Arg335Ser)
c.1053G>C (p.Arg351Ser)
c.1050G>C (p.Arg350Ser)
c.1017G>C (p.Arg339Ser)
dbSNP
3g.189868643G>TCA355755216TP63c.1056G>T (p.Arg352Ser)
c.774G>T (p.Arg258Ser)
c.519G>T (p.Arg173Ser)
n.880G>T
c.1005G>T (p.Arg335Ser)
c.1053G>T (p.Arg351Ser)
c.1050G>T (p.Arg350Ser)
c.1017G>T (p.Arg339Ser)
3g.189868644A>CCA355755217TP63c.1057A>C (p.Lys353Gln)
c.775A>C (p.Lys259Gln)
c.520A>C (p.Lys174Gln)
n.881A>C
c.1006A>C (p.Lys336Gln)
c.1054A>C (p.Lys352Gln)
c.1051A>C (p.Lys351Gln)
c.1018A>C (p.Lys340Gln)
3g.189868644A>GCA355755218TP63c.1057A>G (p.Lys353Glu)
c.775A>G (p.Lys259Glu)
c.520A>G (p.Lys174Glu)
n.881A>G
c.1006A>G (p.Lys336Glu)
c.1054A>G (p.Lys352Glu)
c.1051A>G (p.Lys351Glu)
c.1018A>G (p.Lys340Glu)
3g.189868644A>TCA355755219TP63c.1057A>T (p.Lys353Ter)
c.775A>T (p.Lys259Ter)
c.520A>T (p.Lys174Ter)
n.881A>T
c.1006A>T (p.Lys336Ter)
c.1054A>T (p.Lys352Ter)
c.1051A>T (p.Lys351Ter)
c.1018A>T (p.Lys340Ter)
dbSNP
3g.189868645A>CCA355755220TP63c.1058A>C (p.Lys353Thr)
c.776A>C (p.Lys259Thr)
c.521A>C (p.Lys174Thr)
n.882A>C
c.1007A>C (p.Lys336Thr)
c.1055A>C (p.Lys352Thr)
c.1052A>C (p.Lys351Thr)
c.1019A>C (p.Lys340Thr)
3g.189868645A>GCA355755221TP63c.1058A>G (p.Lys353Arg)
c.776A>G (p.Lys259Arg)
c.521A>G (p.Lys174Arg)
n.882A>G
c.1007A>G (p.Lys336Arg)
c.1055A>G (p.Lys352Arg)
c.1052A>G (p.Lys351Arg)
c.1019A>G (p.Lys340Arg)
3g.189868645A>TCA355755222TP63c.1058A>T (p.Lys353Met)
c.776A>T (p.Lys259Met)
c.521A>T (p.Lys174Met)
n.882A>T
c.1007A>T (p.Lys336Met)
c.1055A>T (p.Lys352Met)
c.1052A>T (p.Lys351Met)
c.1019A>T (p.Lys340Met)
dbSNP
3g.189868646G>ACA437413549TP63c.1059G>A (p.Lys353=)
c.777G>A (p.Lys259=)
c.522G>A (p.Lys174=)
n.883G>A
c.1008G>A (p.Lys336=)
c.1056G>A (p.Lys352=)
c.1053G>A (p.Lys351=)
c.1020G>A (p.Lys340=)
dbSNP
3g.189868646G>CCA355755223TP63c.1059G>C (p.Lys353Asn)
c.777G>C (p.Lys259Asn)
c.522G>C (p.Lys174Asn)
n.883G>C
c.1008G>C (p.Lys336Asn)
c.1056G>C (p.Lys352Asn)
c.1053G>C (p.Lys351Asn)
c.1020G>C (p.Lys340Asn)
dbSNP
3g.189868646G>TCA355755224TP63c.1059G>T (p.Lys353Asn)
c.777G>T (p.Lys259Asn)
c.522G>T (p.Lys174Asn)
n.883G>T
c.1008G>T (p.Lys336Asn)
c.1056G>T (p.Lys352Asn)
c.1053G>T (p.Lys351Asn)
c.1020G>T (p.Lys340Asn)
dbSNP
3g.189868647G>ACA355755227TP63c.1060G>A (p.Ala354Thr)
c.778G>A (p.Ala260Thr)
c.523G>A (p.Ala175Thr)
n.884G>A
c.1009G>A (p.Ala337Thr)
c.1057G>A (p.Ala353Thr)
c.1054G>A (p.Ala352Thr)
c.1021G>A (p.Ala341Thr)
dbSNP
3g.189868647G>CCA355755226TP63c.1060G>C (p.Ala354Pro)
c.778G>C (p.Ala260Pro)
c.523G>C (p.Ala175Pro)
n.884G>C
c.1009G>C (p.Ala337Pro)
c.1057G>C (p.Ala353Pro)
c.1054G>C (p.Ala352Pro)
c.1021G>C (p.Ala341Pro)
dbSNP
3g.189868647G>TCA355755225TP63c.1060G>T (p.Ala354Ser)
c.778G>T (p.Ala260Ser)
c.523G>T (p.Ala175Ser)
n.884G>T
c.1009G>T (p.Ala337Ser)
c.1057G>T (p.Ala353Ser)
c.1054G>T (p.Ala352Ser)
c.1021G>T (p.Ala341Ser)
dbSNP
3g.189868648C>ACA355755228TP63c.1061C>A (p.Ala354Glu)
c.779C>A (p.Ala260Glu)
c.524C>A (p.Ala175Glu)
n.885C>A
c.1010C>A (p.Ala337Glu)
c.1058C>A (p.Ala353Glu)
c.1055C>A (p.Ala352Glu)
c.1022C>A (p.Ala341Glu)
ClinVar dbSNP
3g.189868648C=CA1428495868TP63c.1061C= (p.Ala354=)
c.779C= (p.Ala260=)
c.524C= (p.Ala175=)
n.885C=
c.1010C= (p.Ala337=)
c.1058C= (p.Ala353=)
c.1055C= (p.Ala352=)
c.1022C= (p.Ala341=)
3g.189868648C>GCA355755229TP63c.1061C>G (p.Ala354Gly)
c.779C>G (p.Ala260Gly)
c.524C>G (p.Ala175Gly)
n.885C>G
c.1010C>G (p.Ala337Gly)
c.1058C>G (p.Ala353Gly)
c.1055C>G (p.Ala352Gly)
c.1022C>G (p.Ala341Gly)
dbSNP
3g.189868648C>TCA355755230TP63c.1061C>T (p.Ala354Val)
c.779C>T (p.Ala260Val)
c.524C>T (p.Ala175Val)
n.885C>T
c.1010C>T (p.Ala337Val)
c.1058C>T (p.Ala353Val)
c.1055C>T (p.Ala352Val)
c.1022C>T (p.Ala341Val)
gnomAD v4 COSMIC COSMIC
3g.189868649G>ACA2752332TP63c.1062G>A (p.Ala354=)
c.780G>A (p.Ala260=)
c.525G>A (p.Ala175=)
n.886G>A
c.1011G>A (p.Ala337=)
c.1059G>A (p.Ala353=)
c.1056G>A (p.Ala352=)
c.1023G>A (p.Ala341=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868649G>CCA437413560TP63c.1062G>C (p.Ala354=)
c.780G>C (p.Ala260=)
c.525G>C (p.Ala175=)
n.886G>C
c.1011G>C (p.Ala337=)
c.1059G>C (p.Ala353=)
c.1056G>C (p.Ala352=)
c.1023G>C (p.Ala341=)
3g.189868649G=CA1428495876TP63c.1062G= (p.Ala354=)
c.780G= (p.Ala260=)
c.525G= (p.Ala175=)
n.886G=
c.1011G= (p.Ala337=)
c.1059G= (p.Ala353=)
c.1056G= (p.Ala352=)
c.1023G= (p.Ala341=)
3g.189868649G>TCA437413562TP63c.1062G>T (p.Ala354=)
c.780G>T (p.Ala260=)
c.525G>T (p.Ala175=)
n.886G>T
c.1011G>T (p.Ala337=)
c.1059G>T (p.Ala353=)
c.1056G>T (p.Ala352=)
c.1023G>T (p.Ala341=)
dbSNP
3g.189868650G>ACA355755231TP63c.1063G>A (p.Asp355Asn)
c.781G>A (p.Asp261Asn)
c.526G>A (p.Asp176Asn)
n.887G>A
c.1012G>A (p.Asp338Asn)
c.1060G>A (p.Asp354Asn)
c.1057G>A (p.Asp353Asn)
c.1024G>A (p.Asp342Asn)
ClinVar dbSNP
3g.189868650G>CCA355755232TP63c.1063G>C (p.Asp355His)
c.781G>C (p.Asp261His)
c.526G>C (p.Asp176His)
n.887G>C
c.1012G>C (p.Asp338His)
c.1060G>C (p.Asp354His)
c.1057G>C (p.Asp353His)
c.1024G>C (p.Asp342His)
dbSNP
3g.189868650G=CA1428495879TP63c.1063G= (p.Asp355=)
c.781G= (p.Asp261=)
c.526G= (p.Asp176=)
n.887G=
c.1012G= (p.Asp338=)
c.1060G= (p.Asp354=)
c.1057G= (p.Asp353=)
c.1024G= (p.Asp342=)
3g.189868650G>TCA355755233TP63c.1063G>T (p.Asp355Tyr)
c.781G>T (p.Asp261Tyr)
c.526G>T (p.Asp176Tyr)
n.887G>T
c.1012G>T (p.Asp338Tyr)
c.1060G>T (p.Asp354Tyr)
c.1057G>T (p.Asp353Tyr)
c.1024G>T (p.Asp342Tyr)
dbSNP
3g.189868651A=CA1428495883TP63c.1064A= (p.Asp355=)
c.782A= (p.Asp261=)
c.527A= (p.Asp176=)
n.888A=
c.1013A= (p.Asp338=)
c.1061A= (p.Asp354=)
c.1058A= (p.Asp353=)
c.1025A= (p.Asp342=)
3g.189868651A>CCA355755234TP63c.1064A>C (p.Asp355Ala)
c.782A>C (p.Asp261Ala)
c.527A>C (p.Asp176Ala)
n.888A>C
c.1013A>C (p.Asp338Ala)
c.1061A>C (p.Asp354Ala)
c.1058A>C (p.Asp353Ala)
c.1025A>C (p.Asp342Ala)
3g.189868651A>GCA355755235TP63c.1064A>G (p.Asp355Gly)
c.782A>G (p.Asp261Gly)
c.527A>G (p.Asp176Gly)
n.888A>G
c.1013A>G (p.Asp338Gly)
c.1061A>G (p.Asp354Gly)
c.1058A>G (p.Asp353Gly)
c.1025A>G (p.Asp342Gly)
dbSNP
3g.189868651A>TCA355755236TP63c.1064A>T (p.Asp355Val)
c.782A>T (p.Asp261Val)
c.527A>T (p.Asp176Val)
n.888A>T
c.1013A>T (p.Asp338Val)
c.1061A>T (p.Asp354Val)
c.1058A>T (p.Asp353Val)
c.1025A>T (p.Asp342Val)
dbSNP gnomAD v4
3g.189868652T>ACA355755237TP63c.1065T>A (p.Asp355Glu)
c.783T>A (p.Asp261Glu)
c.528T>A (p.Asp176Glu)
n.889T>A
c.1014T>A (p.Asp338Glu)
c.1062T>A (p.Asp354Glu)
c.1059T>A (p.Asp353Glu)
c.1026T>A (p.Asp342Glu)
dbSNP
3g.189868652T>CCA437413572TP63c.1065T>C (p.Asp355=)
c.783T>C (p.Asp261=)
c.528T>C (p.Asp176=)
n.889T>C
c.1014T>C (p.Asp338=)
c.1062T>C (p.Asp354=)
c.1059T>C (p.Asp353=)
c.1026T>C (p.Asp342=)
dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.189868652T>GCA355755238TP63c.1065T>G (p.Asp355Glu)
c.783T>G (p.Asp261Glu)
c.528T>G (p.Asp176Glu)
n.889T>G
c.1014T>G (p.Asp338Glu)
c.1062T>G (p.Asp354Glu)
c.1059T>G (p.Asp353Glu)
c.1026T>G (p.Asp342Glu)
dbSNP
3g.189868653G>ACA355755241TP63c.1066G>A (p.Glu356Lys)
c.784G>A (p.Glu262Lys)
c.529G>A (p.Glu177Lys)
n.890G>A
c.1015G>A (p.Glu339Lys)
c.1063G>A (p.Glu355Lys)
c.1060G>A (p.Glu354Lys)
c.1027G>A (p.Glu343Lys)
dbSNP
3g.189868653G>CCA355755240TP63c.1066G>C (p.Glu356Gln)
c.784G>C (p.Glu262Gln)
c.529G>C (p.Glu177Gln)
n.890G>C
c.1015G>C (p.Glu339Gln)
c.1063G>C (p.Glu355Gln)
c.1060G>C (p.Glu354Gln)
c.1027G>C (p.Glu343Gln)
dbSNP
3g.189868653G>TCA355755239TP63c.1066G>T (p.Glu356Ter)
c.784G>T (p.Glu262Ter)
c.529G>T (p.Glu177Ter)
n.890G>T
c.1015G>T (p.Glu339Ter)
c.1063G>T (p.Glu355Ter)
c.1060G>T (p.Glu354Ter)
c.1027G>T (p.Glu343Ter)
3g.189868654A>CCA355755242TP63c.1067A>C (p.Glu356Ala)
c.785A>C (p.Glu262Ala)
c.530A>C (p.Glu177Ala)
n.891A>C
c.1016A>C (p.Glu339Ala)
c.1064A>C (p.Glu355Ala)
c.1061A>C (p.Glu354Ala)
c.1028A>C (p.Glu343Ala)
3g.189868654A>GCA355755243TP63c.1067A>G (p.Glu356Gly)
c.785A>G (p.Glu262Gly)
c.530A>G (p.Glu177Gly)
n.891A>G
c.1016A>G (p.Glu339Gly)
c.1064A>G (p.Glu355Gly)
c.1061A>G (p.Glu354Gly)
c.1028A>G (p.Glu343Gly)
dbSNP
3g.189868654A>TCA355755244TP63c.1067A>T (p.Glu356Val)
c.785A>T (p.Glu262Val)
c.530A>T (p.Glu177Val)
n.891A>T
c.1016A>T (p.Glu339Val)
c.1064A>T (p.Glu355Val)
c.1061A>T (p.Glu354Val)
c.1028A>T (p.Glu343Val)
dbSNP
3g.189868655A>CCA355755245TP63c.1068A>C (p.Glu356Asp)
c.786A>C (p.Glu262Asp)
c.531A>C (p.Glu177Asp)
n.892A>C
c.1017A>C (p.Glu339Asp)
c.1065A>C (p.Glu355Asp)
c.1062A>C (p.Glu354Asp)
c.1029A>C (p.Glu343Asp)
3g.189868655A>GCA437413583TP63c.1068A>G (p.Glu356=)
c.786A>G (p.Glu262=)
c.531A>G (p.Glu177=)
n.892A>G
c.1017A>G (p.Glu339=)
c.1065A>G (p.Glu355=)
c.1062A>G (p.Glu354=)
c.1029A>G (p.Glu343=)
dbSNP
3g.189868655A>TCA355755246TP63c.1068A>T (p.Glu356Asp)
c.786A>T (p.Glu262Asp)
c.531A>T (p.Glu177Asp)
n.892A>T
c.1017A>T (p.Glu339Asp)
c.1065A>T (p.Glu355Asp)
c.1062A>T (p.Glu354Asp)
c.1029A>T (p.Glu343Asp)
dbSNP
3g.189868656G>ACA355755247TP63c.1069G>A (p.Asp357Asn)
c.787G>A (p.Asp263Asn)
c.532G>A (p.Asp178Asn)
n.893G>A
c.1018G>A (p.Asp340Asn)
c.1066G>A (p.Asp356Asn)
c.1063G>A (p.Asp355Asn)
c.1030G>A (p.Asp344Asn)
dbSNP COSMIC COSMIC COSMIC
3g.189868656G>CCA355755248TP63c.1069G>C (p.Asp357His)
c.787G>C (p.Asp263His)
c.532G>C (p.Asp178His)
n.893G>C
c.1018G>C (p.Asp340His)
c.1066G>C (p.Asp356His)
c.1063G>C (p.Asp355His)
c.1030G>C (p.Asp344His)
dbSNP gnomAD v4
3g.189868656G>TCA355755249TP63c.1069G>T (p.Asp357Tyr)
c.787G>T (p.Asp263Tyr)
c.532G>T (p.Asp178Tyr)
n.893G>T
c.1018G>T (p.Asp340Tyr)
c.1066G>T (p.Asp356Tyr)
c.1063G>T (p.Asp355Tyr)
c.1030G>T (p.Asp344Tyr)
3g.189868657A>CCA355755250TP63c.1070A>C (p.Asp357Ala)
c.788A>C (p.Asp263Ala)
c.533A>C (p.Asp178Ala)
n.894A>C
c.1019A>C (p.Asp340Ala)
c.1067A>C (p.Asp356Ala)
c.1064A>C (p.Asp355Ala)
c.1031A>C (p.Asp344Ala)
3g.189868657A>GCA355755251TP63c.1070A>G (p.Asp357Gly)
c.788A>G (p.Asp263Gly)
c.533A>G (p.Asp178Gly)
n.894A>G
c.1019A>G (p.Asp340Gly)
c.1067A>G (p.Asp356Gly)
c.1064A>G (p.Asp355Gly)
c.1031A>G (p.Asp344Gly)
3g.189868657A>TCA355755252TP63c.1070A>T (p.Asp357Val)
c.788A>T (p.Asp263Val)
c.533A>T (p.Asp178Val)
n.894A>T
c.1019A>T (p.Asp340Val)
c.1067A>T (p.Asp356Val)
c.1064A>T (p.Asp355Val)
c.1031A>T (p.Asp344Val)
dbSNP
3g.189868658T>ACA355755253TP63c.1071T>A (p.Asp357Glu)
c.789T>A (p.Asp263Glu)
c.534T>A (p.Asp178Glu)
n.895T>A
c.1020T>A (p.Asp340Glu)
c.1068T>A (p.Asp356Glu)
c.1065T>A (p.Asp355Glu)
c.1032T>A (p.Asp344Glu)
dbSNP
3g.189868658T>CCA437413591TP63c.1071T>C (p.Asp357=)
c.789T>C (p.Asp263=)
c.534T>C (p.Asp178=)
n.895T>C
c.1020T>C (p.Asp340=)
c.1068T>C (p.Asp356=)
c.1065T>C (p.Asp355=)
c.1032T>C (p.Asp344=)
gnomAD v4
3g.189868658T>GCA355755254TP63c.1071T>G (p.Asp357Glu)
c.789T>G (p.Asp263Glu)
c.534T>G (p.Asp178Glu)
n.895T>G
c.1020T>G (p.Asp340Glu)
c.1068T>G (p.Asp356Glu)
c.1065T>G (p.Asp355Glu)
c.1032T>G (p.Asp344Glu)
dbSNP
3g.189868659A=CA1428495887TP63c.1072A= (p.Ser358=)
c.790A= (p.Ser264=)
c.535A= (p.Ser179=)
n.896A=
c.1021A= (p.Ser341=)
c.1069A= (p.Ser357=)
c.1066A= (p.Ser356=)
c.1033A= (p.Ser345=)
3g.189868659A>CCA355755257TP63c.1072A>C (p.Ser358Arg)
c.790A>C (p.Ser264Arg)
c.535A>C (p.Ser179Arg)
n.896A>C
c.1021A>C (p.Ser341Arg)
c.1069A>C (p.Ser357Arg)
c.1066A>C (p.Ser356Arg)
c.1033A>C (p.Ser345Arg)
3g.189868659A>GCA355755256TP63c.1072A>G (p.Ser358Gly)
c.790A>G (p.Ser264Gly)
c.535A>G (p.Ser179Gly)
n.896A>G
c.1021A>G (p.Ser341Gly)
c.1069A>G (p.Ser357Gly)
c.1066A>G (p.Ser356Gly)
c.1033A>G (p.Ser345Gly)
dbSNP gnomAD v2 gnomAD v4
3g.189868659A>TCA355755255TP63c.1072A>T (p.Ser358Cys)
c.790A>T (p.Ser264Cys)
c.535A>T (p.Ser179Cys)
n.896A>T
c.1021A>T (p.Ser341Cys)
c.1069A>T (p.Ser357Cys)
c.1066A>T (p.Ser356Cys)
c.1033A>T (p.Ser345Cys)
dbSNP
3g.189868660G>ACA355755260TP63c.1073G>A (p.Ser358Asn)
c.791G>A (p.Ser264Asn)
c.536G>A (p.Ser179Asn)
n.897G>A
c.1022G>A (p.Ser341Asn)
c.1070G>A (p.Ser357Asn)
c.1067G>A (p.Ser356Asn)
c.1034G>A (p.Ser345Asn)
dbSNP gnomAD v4
3g.189868660G>CCA355755258TP63c.1073G>C (p.Ser358Thr)
c.791G>C (p.Ser264Thr)
c.536G>C (p.Ser179Thr)
n.897G>C
c.1022G>C (p.Ser341Thr)
c.1070G>C (p.Ser357Thr)
c.1067G>C (p.Ser356Thr)
c.1034G>C (p.Ser345Thr)
dbSNP gnomAD v2 gnomAD v4
3g.189868660G=CA1428495894TP63c.1073G= (p.Ser358=)
c.791G= (p.Ser264=)
c.536G= (p.Ser179=)
n.897G=
c.1022G= (p.Ser341=)
c.1070G= (p.Ser357=)
c.1067G= (p.Ser356=)
c.1034G= (p.Ser345=)
3g.189868660G>TCA355755259TP63c.1073G>T (p.Ser358Ile)
c.791G>T (p.Ser264Ile)
c.536G>T (p.Ser179Ile)
n.897G>T
c.1022G>T (p.Ser341Ile)
c.1070G>T (p.Ser357Ile)
c.1067G>T (p.Ser356Ile)
c.1034G>T (p.Ser345Ile)
COSMIC COSMIC COSMIC
3g.189868661C>ACA355755261TP63c.1074C>A (p.Ser358Arg)
c.792C>A (p.Ser264Arg)
c.537C>A (p.Ser179Arg)
n.898C>A
c.1023C>A (p.Ser341Arg)
c.1071C>A (p.Ser357Arg)
c.1068C>A (p.Ser356Arg)
c.1035C>A (p.Ser345Arg)
3g.189868661C=CA1428495898TP63c.1074C= (p.Ser358=)
c.792C= (p.Ser264=)
c.537C= (p.Ser179=)
n.898C=
c.1023C= (p.Ser341=)
c.1071C= (p.Ser357=)
c.1068C= (p.Ser356=)
c.1035C= (p.Ser345=)
3g.189868661C>GCA355755262TP63c.1074C>G (p.Ser358Arg)
c.792C>G (p.Ser264Arg)
c.537C>G (p.Ser179Arg)
n.898C>G
c.1023C>G (p.Ser341Arg)
c.1071C>G (p.Ser357Arg)
c.1068C>G (p.Ser356Arg)
c.1035C>G (p.Ser345Arg)
dbSNP
3g.189868661C>TCA437413602TP63c.1074C>T (p.Ser358=)
c.792C>T (p.Ser264=)
c.537C>T (p.Ser179=)
n.898C>T
c.1023C>T (p.Ser341=)
c.1071C>T (p.Ser357=)
c.1068C>T (p.Ser356=)
c.1035C>T (p.Ser345=)
dbSNP gnomAD v2 gnomAD v4
3g.189868662A>CCA355755263TP63c.1075A>C (p.Ile359Leu)
c.793A>C (p.Ile265Leu)
c.538A>C (p.Ile180Leu)
n.899A>C
c.1024A>C (p.Ile342Leu)
c.1072A>C (p.Ile358Leu)
c.1069A>C (p.Ile357Leu)
c.1036A>C (p.Ile346Leu)
3g.189868662A>GCA355755264TP63c.1075A>G (p.Ile359Val)
c.793A>G (p.Ile265Val)
c.538A>G (p.Ile180Val)
n.899A>G
c.1024A>G (p.Ile342Val)
c.1072A>G (p.Ile358Val)
c.1069A>G (p.Ile357Val)
c.1036A>G (p.Ile346Val)
3g.189868662A>TCA355755265TP63c.1075A>T (p.Ile359Phe)
c.793A>T (p.Ile265Phe)
c.538A>T (p.Ile180Phe)
n.899A>T
c.1024A>T (p.Ile342Phe)
c.1072A>T (p.Ile358Phe)
c.1069A>T (p.Ile357Phe)
c.1036A>T (p.Ile346Phe)
dbSNP gnomAD v4
3g.189868663T>ACA355755266TP63c.1076T>A (p.Ile359Asn)
c.794T>A (p.Ile265Asn)
c.539T>A (p.Ile180Asn)
n.900T>A
c.1025T>A (p.Ile342Asn)
c.1073T>A (p.Ile358Asn)
c.1070T>A (p.Ile357Asn)
c.1037T>A (p.Ile346Asn)
dbSNP
3g.189868663T>CCA355755267TP63c.1076T>C (p.Ile359Thr)
c.794T>C (p.Ile265Thr)
c.539T>C (p.Ile180Thr)
n.900T>C
c.1025T>C (p.Ile342Thr)
c.1073T>C (p.Ile358Thr)
c.1070T>C (p.Ile357Thr)
c.1037T>C (p.Ile346Thr)
dbSNP
3g.189868663T>GCA355755268TP63c.1076T>G (p.Ile359Ser)
c.794T>G (p.Ile265Ser)
c.539T>G (p.Ile180Ser)
n.900T>G
c.1025T>G (p.Ile342Ser)
c.1073T>G (p.Ile358Ser)
c.1070T>G (p.Ile357Ser)
c.1037T>G (p.Ile346Ser)
dbSNP
3g.189868664C>ACA437413611TP63c.1077C>A (p.Ile359=)
c.795C>A (p.Ile265=)
c.540C>A (p.Ile180=)
n.901C>A
c.1026C>A (p.Ile342=)
c.1074C>A (p.Ile358=)
c.1071C>A (p.Ile357=)
c.1038C>A (p.Ile346=)
dbSNP
3g.189868664C>GCA355755269TP63c.1077C>G (p.Ile359Met)
c.795C>G (p.Ile265Met)
c.540C>G (p.Ile180Met)
n.901C>G
c.1026C>G (p.Ile342Met)
c.1074C>G (p.Ile358Met)
c.1071C>G (p.Ile357Met)
c.1038C>G (p.Ile346Met)
dbSNP
3g.189868664C>TCA437413622TP63c.1077C>T (p.Ile359=)
c.795C>T (p.Ile265=)
c.540C>T (p.Ile180=)
n.901C>T
c.1026C>T (p.Ile342=)
c.1074C>T (p.Ile358=)
c.1071C>T (p.Ile357=)
c.1038C>T (p.Ile346=)
dbSNP
3g.189868665A>CCA437413625TP63c.1078A>C (p.Arg360=)
c.796A>C (p.Arg266=)
c.541A>C (p.Arg181=)
n.902A>C
c.1027A>C (p.Arg343=)
c.1075A>C (p.Arg359=)
c.1072A>C (p.Arg358=)
c.1039A>C (p.Arg347=)
3g.189868665A>GCA355755270TP63c.1078A>G (p.Arg360Gly)
c.796A>G (p.Arg266Gly)
c.541A>G (p.Arg181Gly)
n.902A>G
c.1027A>G (p.Arg343Gly)
c.1075A>G (p.Arg359Gly)
c.1072A>G (p.Arg358Gly)
c.1039A>G (p.Arg347Gly)
dbSNP
3g.189868665A>TCA355755271TP63c.1078A>T (p.Arg360Ter)
c.796A>T (p.Arg266Ter)
c.541A>T (p.Arg181Ter)
n.902A>T
c.1027A>T (p.Arg343Ter)
c.1075A>T (p.Arg359Ter)
c.1072A>T (p.Arg358Ter)
c.1039A>T (p.Arg347Ter)
3g.189868666G>ACA355755274TP63c.1079G>A (p.Arg360Lys)
c.797G>A (p.Arg266Lys)
c.542G>A (p.Arg181Lys)
n.903G>A
c.1028G>A (p.Arg343Lys)
c.1076G>A (p.Arg359Lys)
c.1073G>A (p.Arg358Lys)
c.1040G>A (p.Arg347Lys)
dbSNP
3g.189868666G>CCA355755273TP63c.1079G>C (p.Arg360Thr)
c.797G>C (p.Arg266Thr)
c.542G>C (p.Arg181Thr)
n.903G>C
c.1028G>C (p.Arg343Thr)
c.1076G>C (p.Arg359Thr)
c.1073G>C (p.Arg358Thr)
c.1040G>C (p.Arg347Thr)
dbSNP
3g.189868666G>TCA355755272TP63c.1079G>T (p.Arg360Ile)
c.797G>T (p.Arg266Ile)
c.542G>T (p.Arg181Ile)
n.903G>T
c.1028G>T (p.Arg343Ile)
c.1076G>T (p.Arg359Ile)
c.1073G>T (p.Arg358Ile)
c.1040G>T (p.Arg347Ile)
dbSNP
3g.189868667A>CCA355755275TP63c.1080A>C (p.Arg360Ser)
c.798A>C (p.Arg266Ser)
c.543A>C (p.Arg181Ser)
n.904A>C
c.1029A>C (p.Arg343Ser)
c.1077A>C (p.Arg359Ser)
c.1074A>C (p.Arg358Ser)
c.1041A>C (p.Arg347Ser)
3g.189868667A>GCA437413632TP63c.1080A>G (p.Arg360=)
c.798A>G (p.Arg266=)
c.543A>G (p.Arg181=)
n.904A>G
c.1029A>G (p.Arg343=)
c.1077A>G (p.Arg359=)
c.1074A>G (p.Arg358=)
c.1041A>G (p.Arg347=)
3g.189868667A>TCA355755276TP63c.1080A>T (p.Arg360Ser)
c.798A>T (p.Arg266Ser)
c.543A>T (p.Arg181Ser)
n.904A>T
c.1029A>T (p.Arg343Ser)
c.1077A>T (p.Arg359Ser)
c.1074A>T (p.Arg358Ser)
c.1041A>T (p.Arg347Ser)
3g.189868668A>CCA355755277TP63c.1081A>C (p.Lys361Gln)
c.799A>C (p.Lys267Gln)
c.544A>C (p.Lys182Gln)
n.905A>C
c.1030A>C (p.Lys344Gln)
c.1078A>C (p.Lys360Gln)
c.1075A>C (p.Lys359Gln)
c.1042A>C (p.Lys348Gln)
3g.189868668A>GCA355755278TP63c.1081A>G (p.Lys361Glu)
c.799A>G (p.Lys267Glu)
c.544A>G (p.Lys182Glu)
n.905A>G
c.1030A>G (p.Lys344Glu)
c.1078A>G (p.Lys360Glu)
c.1075A>G (p.Lys359Glu)
c.1042A>G (p.Lys348Glu)
3g.189868668A>TCA355755279TP63c.1081A>T (p.Lys361Ter)
c.799A>T (p.Lys267Ter)
c.544A>T (p.Lys182Ter)
n.905A>T
c.1030A>T (p.Lys344Ter)
c.1078A>T (p.Lys360Ter)
c.1075A>T (p.Lys359Ter)
c.1042A>T (p.Lys348Ter)
dbSNP
3g.189868669A>CCA355755280TP63c.1082A>C (p.Lys361Thr)
c.800A>C (p.Lys267Thr)
c.545A>C (p.Lys182Thr)
n.906A>C
c.1031A>C (p.Lys344Thr)
c.1079A>C (p.Lys360Thr)
c.1076A>C (p.Lys359Thr)
c.1043A>C (p.Lys348Thr)
gnomAD v4
3g.189868669A>GCA355755281TP63c.1082A>G (p.Lys361Arg)
c.800A>G (p.Lys267Arg)
c.545A>G (p.Lys182Arg)
n.906A>G
c.1031A>G (p.Lys344Arg)
c.1079A>G (p.Lys360Arg)
c.1076A>G (p.Lys359Arg)
c.1043A>G (p.Lys348Arg)
3g.189868669A>TCA355755282TP63c.1082A>T (p.Lys361Met)
c.800A>T (p.Lys267Met)
c.545A>T (p.Lys182Met)
n.906A>T
c.1031A>T (p.Lys344Met)
c.1079A>T (p.Lys360Met)
c.1076A>T (p.Lys359Met)
c.1043A>T (p.Lys348Met)
dbSNP
3g.189868670G>ACA247614TP63c.1083G>A (p.Lys361=)
c.801G>A (p.Lys267=)
c.546G>A (p.Lys182=)
n.907G>A
c.1032G>A (p.Lys344=)
c.1080G>A (p.Lys360=)
c.1077G>A (p.Lys359=)
c.1044G>A (p.Lys348=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868670G>CCA355755283TP63c.1083G>C (p.Lys361Asn)
c.801G>C (p.Lys267Asn)
c.546G>C (p.Lys182Asn)
n.907G>C
c.1032G>C (p.Lys344Asn)
c.1080G>C (p.Lys360Asn)
c.1077G>C (p.Lys359Asn)
c.1044G>C (p.Lys348Asn)
dbSNP
3g.189868670G=CA1428495912TP63c.1083G= (p.Lys361=)
c.801G= (p.Lys267=)
c.546G= (p.Lys182=)
n.907G=
c.1032G= (p.Lys344=)
c.1080G= (p.Lys360=)
c.1077G= (p.Lys359=)
c.1044G= (p.Lys348=)
3g.189868670G>TCA355755284TP63c.1083G>T (p.Lys361Asn)
c.801G>T (p.Lys267Asn)
c.546G>T (p.Lys182Asn)
n.907G>T
c.1032G>T (p.Lys344Asn)
c.1080G>T (p.Lys360Asn)
c.1077G>T (p.Lys359Asn)
c.1044G>T (p.Lys348Asn)
3g.189868671C>ACA355755285TP63c.1084C>A (p.Gln362Lys)
c.802C>A (p.Gln268Lys)
c.547C>A (p.Gln183Lys)
n.908C>A
c.1033C>A (p.Gln345Lys)
c.1081C>A (p.Gln361Lys)
c.1078C>A (p.Gln360Lys)
c.1045C>A (p.Gln349Lys)
3g.189868671C>GCA355755286TP63c.1084C>G (p.Gln362Glu)
c.802C>G (p.Gln268Glu)
c.547C>G (p.Gln183Glu)
n.908C>G
c.1033C>G (p.Gln345Glu)
c.1081C>G (p.Gln361Glu)
c.1078C>G (p.Gln360Glu)
c.1045C>G (p.Gln349Glu)
dbSNP
3g.189868671C>TCA355755287TP63c.1084C>T (p.Gln362Ter)
c.802C>T (p.Gln268Ter)
c.547C>T (p.Gln183Ter)
n.908C>T
c.1033C>T (p.Gln345Ter)
c.1081C>T (p.Gln361Ter)
c.1078C>T (p.Gln360Ter)
c.1045C>T (p.Gln349Ter)
dbSNP
3g.189868672A>CCA355755289TP63c.1085A>C (p.Gln362Pro)
c.803A>C (p.Gln268Pro)
c.548A>C (p.Gln183Pro)
n.909A>C
c.1034A>C (p.Gln345Pro)
c.1082A>C (p.Gln361Pro)
c.1079A>C (p.Gln360Pro)
c.1046A>C (p.Gln349Pro)
3g.189868672A>GCA355755290TP63c.1085A>G (p.Gln362Arg)
c.803A>G (p.Gln268Arg)
c.548A>G (p.Gln183Arg)
n.909A>G
c.1034A>G (p.Gln345Arg)
c.1082A>G (p.Gln361Arg)
c.1079A>G (p.Gln360Arg)
c.1046A>G (p.Gln349Arg)
3g.189868672A>TCA355755288TP63c.1085A>T (p.Gln362Leu)
c.803A>T (p.Gln268Leu)
c.548A>T (p.Gln183Leu)
n.909A>T
c.1034A>T (p.Gln345Leu)
c.1082A>T (p.Gln361Leu)
c.1079A>T (p.Gln360Leu)
c.1046A>T (p.Gln349Leu)
dbSNP
3g.189868673G>ACA89746733TP63c.1086G>A (p.Gln362=)
c.804G>A (p.Gln268=)
c.549G>A (p.Gln183=)
n.910G>A
c.1035G>A (p.Gln345=)
c.1083G>A (p.Gln361=)
c.1080G>A (p.Gln360=)
c.1047G>A (p.Gln349=)
dbSNP
3g.189868673G>CCA2752333TP63c.1086G>C (p.Gln362His)
c.804G>C (p.Gln268His)
c.549G>C (p.Gln183His)
n.910G>C
c.1035G>C (p.Gln345His)
c.1083G>C (p.Gln361His)
c.1080G>C (p.Gln360His)
c.1047G>C (p.Gln349His)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868673G=CA1428495923TP63c.1086G= (p.Gln362=)
c.804G= (p.Gln268=)
c.549G= (p.Gln183=)
n.910G=
c.1035G= (p.Gln345=)
c.1083G= (p.Gln361=)
c.1080G= (p.Gln360=)
c.1047G= (p.Gln349=)
3g.189868673G>TCA355755291TP63c.1086G>T (p.Gln362His)
c.804G>T (p.Gln268His)
c.549G>T (p.Gln183His)
n.910G>T
c.1035G>T (p.Gln345His)
c.1083G>T (p.Gln361His)
c.1080G>T (p.Gln360His)
c.1047G>T (p.Gln349His)
3g.189868674C>ACA2752334TP63c.1087C>A (p.Gln363Lys)
c.805C>A (p.Gln269Lys)
c.550C>A (p.Gln184Lys)
n.911C>A
c.1036C>A (p.Gln346Lys)
c.1084C>A (p.Gln362Lys)
c.1081C>A (p.Gln361Lys)
c.1048C>A (p.Gln350Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868674C=CA1428495926TP63c.1087C= (p.Gln363=)
c.805C= (p.Gln269=)
c.550C= (p.Gln184=)
n.911C=
c.1036C= (p.Gln346=)
c.1084C= (p.Gln362=)
c.1081C= (p.Gln361=)
c.1048C= (p.Gln350=)
3g.189868674C>GCA355755292TP63c.1087C>G (p.Gln363Glu)
c.805C>G (p.Gln269Glu)
c.550C>G (p.Gln184Glu)
n.911C>G
c.1036C>G (p.Gln346Glu)
c.1084C>G (p.Gln362Glu)
c.1081C>G (p.Gln361Glu)
c.1048C>G (p.Gln350Glu)
dbSNP
3g.189868674C>TCA355755293TP63c.1087C>T (p.Gln363Ter)
c.805C>T (p.Gln269Ter)
c.550C>T (p.Gln184Ter)
n.911C>T
c.1036C>T (p.Gln346Ter)
c.1084C>T (p.Gln362Ter)
c.1081C>T (p.Gln361Ter)
c.1048C>T (p.Gln350Ter)
dbSNP
3g.189868675A>CCA355755294TP63c.1088A>C (p.Gln363Pro)
c.806A>C (p.Gln269Pro)
c.551A>C (p.Gln184Pro)
n.912A>C
c.1037A>C (p.Gln346Pro)
c.1085A>C (p.Gln362Pro)
c.1082A>C (p.Gln361Pro)
c.1049A>C (p.Gln350Pro)
3g.189868675A>GCA355755295TP63c.1088A>G (p.Gln363Arg)
c.806A>G (p.Gln269Arg)
c.551A>G (p.Gln184Arg)
n.912A>G
c.1037A>G (p.Gln346Arg)
c.1085A>G (p.Gln362Arg)
c.1082A>G (p.Gln361Arg)
c.1049A>G (p.Gln350Arg)
3g.189868675A>TCA355755296TP63c.1088A>T (p.Gln363Leu)
c.806A>T (p.Gln269Leu)
c.551A>T (p.Gln184Leu)
n.912A>T
c.1037A>T (p.Gln346Leu)
c.1085A>T (p.Gln362Leu)
c.1082A>T (p.Gln361Leu)
c.1049A>T (p.Gln350Leu)
3g.189868676A>CCA355755297TP63c.1089A>C (p.Gln363His)
c.807A>C (p.Gln269His)
c.552A>C (p.Gln184His)
n.913A>C
c.1038A>C (p.Gln346His)
c.1086A>C (p.Gln362His)
c.1083A>C (p.Gln361His)
c.1050A>C (p.Gln350His)
gnomAD v4
3g.189868676A>GCA437413660TP63c.1089A>G (p.Gln363=)
c.807A>G (p.Gln269=)
c.552A>G (p.Gln184=)
n.913A>G
c.1038A>G (p.Gln346=)
c.1086A>G (p.Gln362=)
c.1083A>G (p.Gln361=)
c.1050A>G (p.Gln350=)
3g.189868676A>TCA355755298TP63c.1089A>T (p.Gln363His)
c.807A>T (p.Gln269His)
c.552A>T (p.Gln184His)
n.913A>T
c.1038A>T (p.Gln346His)
c.1086A>T (p.Gln362His)
c.1083A>T (p.Gln361His)
c.1050A>T (p.Gln350His)
dbSNP
3g.189868677G>ACA355755299TP63c.1090G>A (p.Val364Ile)
c.808G>A (p.Val270Ile)
c.553G>A (p.Val185Ile)
n.914G>A
c.1039G>A (p.Val347Ile)
c.1087G>A (p.Val363Ile)
c.1084G>A (p.Val362Ile)
c.1051G>A (p.Val351Ile)
dbSNP COSMIC
3g.189868677G>CCA355755300TP63c.1090G>C (p.Val364Leu)
c.808G>C (p.Val270Leu)
c.553G>C (p.Val185Leu)
n.914G>C
c.1039G>C (p.Val347Leu)
c.1087G>C (p.Val363Leu)
c.1084G>C (p.Val362Leu)
c.1051G>C (p.Val351Leu)
dbSNP
3g.189868677G>TCA355755301TP63c.1090G>T (p.Val364Phe)
c.808G>T (p.Val270Phe)
c.553G>T (p.Val185Phe)
n.914G>T
c.1039G>T (p.Val347Phe)
c.1087G>T (p.Val363Phe)
c.1084G>T (p.Val362Phe)
c.1051G>T (p.Val351Phe)
3g.189868678T>ACA355755302TP63c.1091T>A (p.Val364Asp)
c.809T>A (p.Val270Asp)
c.554T>A (p.Val185Asp)
n.915T>A
c.1040T>A (p.Val347Asp)
c.1088T>A (p.Val363Asp)
c.1085T>A (p.Val362Asp)
c.1052T>A (p.Val351Asp)
dbSNP
3g.189868678T>CCA355755303TP63c.1091T>C (p.Val364Ala)
c.809T>C (p.Val270Ala)
c.554T>C (p.Val185Ala)
n.915T>C
c.1040T>C (p.Val347Ala)
c.1088T>C (p.Val363Ala)
c.1085T>C (p.Val362Ala)
c.1052T>C (p.Val351Ala)
3g.189868678T>GCA89746761TP63c.1091T>G (p.Val364Gly)
c.809T>G (p.Val270Gly)
c.554T>G (p.Val185Gly)
n.915T>G
c.1040T>G (p.Val347Gly)
c.1088T>G (p.Val363Gly)
c.1085T>G (p.Val362Gly)
c.1052T>G (p.Val351Gly)
dbSNP gnomAD v3 gnomAD v4
3g.189868678T=CA1428495929TP63c.1091T= (p.Val364=)
c.809T= (p.Val270=)
c.554T= (p.Val185=)
n.915T=
c.1040T= (p.Val347=)
c.1088T= (p.Val363=)
c.1085T= (p.Val362=)
c.1052T= (p.Val351=)
3g.189868679T>ACA437413667TP63c.1092T>A (p.Val364=)
c.810T>A (p.Val270=)
c.555T>A (p.Val185=)
n.916T>A
c.1041T>A (p.Val347=)
c.1089T>A (p.Val363=)
c.1086T>A (p.Val362=)
c.1053T>A (p.Val351=)
dbSNP
3g.189868679T>CCA437413669TP63c.1092T>C (p.Val364=)
c.810T>C (p.Val270=)
c.555T>C (p.Val185=)
n.916T>C
c.1041T>C (p.Val347=)
c.1089T>C (p.Val363=)
c.1086T>C (p.Val362=)
c.1053T>C (p.Val351=)
3g.189868679T>GCA437413670TP63c.1092T>G (p.Val364=)
c.810T>G (p.Val270=)
c.555T>G (p.Val185=)
n.916T>G
c.1041T>G (p.Val347=)
c.1089T>G (p.Val363=)
c.1086T>G (p.Val362=)
c.1053T>G (p.Val351=)
3g.189868680T>ACA355755304TP63c.1093T>A (p.Ser365Thr)
c.811T>A (p.Ser271Thr)
c.556T>A (p.Ser186Thr)
n.917T>A
c.1042T>A (p.Ser348Thr)
c.1090T>A (p.Ser364Thr)
c.1087T>A (p.Ser363Thr)
c.1054T>A (p.Ser352Thr)
3g.189868680T>CCA355755305TP63c.1093T>C (p.Ser365Pro)
c.811T>C (p.Ser271Pro)
c.556T>C (p.Ser186Pro)
n.917T>C
c.1042T>C (p.Ser348Pro)
c.1090T>C (p.Ser364Pro)
c.1087T>C (p.Ser363Pro)
c.1054T>C (p.Ser352Pro)
3g.189868680T>GCA355755306TP63c.1093T>G (p.Ser365Ala)
c.811T>G (p.Ser271Ala)
c.556T>G (p.Ser186Ala)
n.917T>G
c.1042T>G (p.Ser348Ala)
c.1090T>G (p.Ser364Ala)
c.1087T>G (p.Ser363Ala)
c.1054T>G (p.Ser352Ala)
3g.189868681C>ACA355755307TP63c.1094C>A (p.Ser365Ter)
c.812C>A (p.Ser271Ter)
c.557C>A (p.Ser186Ter)
n.918C>A
c.1043C>A (p.Ser348Ter)
c.1091C>A (p.Ser364Ter)
c.1088C>A (p.Ser363Ter)
c.1055C>A (p.Ser352Ter)
3g.189868681C=CA1428495935TP63c.1094C= (p.Ser365=)
c.812C= (p.Ser271=)
c.557C= (p.Ser186=)
n.918C=
c.1043C= (p.Ser348=)
c.1091C= (p.Ser364=)
c.1088C= (p.Ser363=)
c.1055C= (p.Ser352=)
3g.189868681C>GCA355755308TP63c.1094C>G (p.Ser365Trp)
c.812C>G (p.Ser271Trp)
c.557C>G (p.Ser186Trp)
n.918C>G
c.1043C>G (p.Ser348Trp)
c.1091C>G (p.Ser364Trp)
c.1088C>G (p.Ser363Trp)
c.1055C>G (p.Ser352Trp)
dbSNP gnomAD v2 gnomAD v4
3g.189868681C>TCA89746785TP63c.1094C>T (p.Ser365Leu)
c.812C>T (p.Ser271Leu)
c.557C>T (p.Ser186Leu)
n.918C>T
c.1043C>T (p.Ser348Leu)
c.1091C>T (p.Ser364Leu)
c.1088C>T (p.Ser363Leu)
c.1055C>T (p.Ser352Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.189868682G>ACA2752335TP63c.1095G>A (p.Ser365=)
c.813G>A (p.Ser271=)
c.558G>A (p.Ser186=)
n.919G>A
c.1044G>A (p.Ser348=)
c.1092G>A (p.Ser364=)
c.1089G>A (p.Ser363=)
c.1056G>A (p.Ser352=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189868682G>CCA437413680TP63c.1095G>C (p.Ser365=)
c.813G>C (p.Ser271=)
c.558G>C (p.Ser186=)
n.919G>C
c.1044G>C (p.Ser348=)
c.1092G>C (p.Ser364=)
c.1089G>C (p.Ser363=)
c.1056G>C (p.Ser352=)
dbSNP gnomAD v4
3g.189868682G=CA1428495942TP63c.1095G= (p.Ser365=)
c.813G= (p.Ser271=)
c.558G= (p.Ser186=)
n.919G=
c.1044G= (p.Ser348=)
c.1092G= (p.Ser364=)
c.1089G= (p.Ser363=)
c.1056G= (p.Ser352=)
3g.189868682G>TCA2752336TP63c.1095G>T (p.Ser365=)
c.813G>T (p.Ser271=)
c.558G>T (p.Ser186=)
n.919G>T
c.1044G>T (p.Ser348=)
c.1092G>T (p.Ser364=)
c.1089G>T (p.Ser363=)
c.1056G>T (p.Ser352=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868683G>ACA355755309TP63c.1096G>A (p.Asp366Asn)
c.814G>A (p.Asp272Asn)
c.559G>A (p.Asp187Asn)
n.920G>A
c.1045G>A (p.Asp349Asn)
c.1093G>A (p.Asp365Asn)
c.1090G>A (p.Asp364Asn)
c.1057G>A (p.Asp353Asn)
dbSNP
3g.189868683G>CCA355755310TP63c.1096G>C (p.Asp366His)
c.814G>C (p.Asp272His)
c.559G>C (p.Asp187His)
n.920G>C
c.1045G>C (p.Asp349His)
c.1093G>C (p.Asp365His)
c.1090G>C (p.Asp364His)
c.1057G>C (p.Asp353His)
dbSNP
3g.189868683G>TCA355755311TP63c.1096G>T (p.Asp366Tyr)
c.814G>T (p.Asp272Tyr)
c.559G>T (p.Asp187Tyr)
n.920G>T
c.1045G>T (p.Asp349Tyr)
c.1093G>T (p.Asp365Tyr)
c.1090G>T (p.Asp364Tyr)
c.1057G>T (p.Asp353Tyr)
dbSNP
3g.189868684A>CCA355755313TP63c.1097A>C (p.Asp366Ala)
c.815A>C (p.Asp272Ala)
c.560A>C (p.Asp187Ala)
n.921A>C
c.1046A>C (p.Asp349Ala)
c.1094A>C (p.Asp365Ala)
c.1091A>C (p.Asp364Ala)
c.1058A>C (p.Asp353Ala)
3g.189868684A>GCA355755314TP63c.1097A>G (p.Asp366Gly)
c.815A>G (p.Asp272Gly)
c.560A>G (p.Asp187Gly)
n.921A>G
c.1046A>G (p.Asp349Gly)
c.1094A>G (p.Asp365Gly)
c.1091A>G (p.Asp364Gly)
c.1058A>G (p.Asp353Gly)
dbSNP
3g.189868684A>TCA355755312TP63c.1097A>T (p.Asp366Val)
c.815A>T (p.Asp272Val)
c.560A>T (p.Asp187Val)
n.921A>T
c.1046A>T (p.Asp349Val)
c.1094A>T (p.Asp365Val)
c.1091A>T (p.Asp364Val)
c.1058A>T (p.Asp353Val)
3g.189868685C>ACA355755315TP63c.1098C>A (p.Asp366Glu)
c.816C>A (p.Asp272Glu)
c.561C>A (p.Asp187Glu)
n.922C>A
c.1047C>A (p.Asp349Glu)
c.1095C>A (p.Asp365Glu)
c.1092C>A (p.Asp364Glu)
c.1059C>A (p.Asp353Glu)
3g.189868685C>GCA355755316TP63c.1098C>G (p.Asp366Glu)
c.816C>G (p.Asp272Glu)
c.561C>G (p.Asp187Glu)
n.922C>G
c.1047C>G (p.Asp349Glu)
c.1095C>G (p.Asp365Glu)
c.1092C>G (p.Asp364Glu)
c.1059C>G (p.Asp353Glu)
dbSNP
3g.189868685C>TCA437413688TP63c.1098C>T (p.Asp366=)
c.816C>T (p.Asp272=)
c.561C>T (p.Asp187=)
n.922C>T
c.1047C>T (p.Asp349=)
c.1095C>T (p.Asp365=)
c.1092C>T (p.Asp364=)
c.1059C>T (p.Asp353=)
dbSNP gnomAD v4
3g.189868686A=CA1428495948TP63c.1099A= (p.Ser367=)
c.817A= (p.Ser273=)
c.562A= (p.Ser188=)
n.923A=
c.1048A= (p.Ser350=)
c.1096A= (p.Ser366=)
c.1093A= (p.Ser365=)
c.1060A= (p.Ser354=)
3g.189868686A>CCA355755317TP63c.1099A>C (p.Ser367Arg)
c.817A>C (p.Ser273Arg)
c.562A>C (p.Ser188Arg)
n.923A>C
c.1048A>C (p.Ser350Arg)
c.1096A>C (p.Ser366Arg)
c.1093A>C (p.Ser365Arg)
c.1060A>C (p.Ser354Arg)
3g.189868686A>GCA355755318TP63c.1099A>G (p.Ser367Gly)
c.817A>G (p.Ser273Gly)
c.562A>G (p.Ser188Gly)
n.923A>G
c.1048A>G (p.Ser350Gly)
c.1096A>G (p.Ser366Gly)
c.1093A>G (p.Ser365Gly)
c.1060A>G (p.Ser354Gly)
dbSNP
3g.189868686A>TCA355755319TP63c.1099A>T (p.Ser367Cys)
c.817A>T (p.Ser273Cys)
c.562A>T (p.Ser188Cys)
n.923A>T
c.1048A>T (p.Ser350Cys)
c.1096A>T (p.Ser366Cys)
c.1093A>T (p.Ser365Cys)
c.1060A>T (p.Ser354Cys)
3g.189868687G>ACA355755320TP63c.1100G>A (p.Ser367Asn)
c.818G>A (p.Ser273Asn)
c.563G>A (p.Ser188Asn)
n.924G>A
c.1049G>A (p.Ser350Asn)
c.1097G>A (p.Ser366Asn)
c.1094G>A (p.Ser365Asn)
c.1061G>A (p.Ser354Asn)
dbSNP
3g.189868687G>CCA355755321TP63c.1100G>C (p.Ser367Thr)
c.818G>C (p.Ser273Thr)
c.563G>C (p.Ser188Thr)
n.924G>C
c.1049G>C (p.Ser350Thr)
c.1097G>C (p.Ser366Thr)
c.1094G>C (p.Ser365Thr)
c.1061G>C (p.Ser354Thr)
dbSNP gnomAD v2 gnomAD v4
3g.189868687G=CA1428495956TP63c.1100G= (p.Ser367=)
c.818G= (p.Ser273=)
c.563G= (p.Ser188=)
n.924G=
c.1049G= (p.Ser350=)
c.1097G= (p.Ser366=)
c.1094G= (p.Ser365=)
c.1061G= (p.Ser354=)
3g.189868687G>TCA355755322TP63c.1100G>T (p.Ser367Ile)
c.818G>T (p.Ser273Ile)
c.563G>T (p.Ser188Ile)
n.924G>T
c.1049G>T (p.Ser350Ile)
c.1097G>T (p.Ser366Ile)
c.1094G>T (p.Ser365Ile)
c.1061G>T (p.Ser354Ile)
3g.189868688T>ACA355755323TP63c.1101T>A (p.Ser367Arg)
c.819T>A (p.Ser273Arg)
c.564T>A (p.Ser188Arg)
n.925T>A
c.1050T>A (p.Ser350Arg)
c.1098T>A (p.Ser366Arg)
c.1095T>A (p.Ser365Arg)
c.1062T>A (p.Ser354Arg)
dbSNP gnomAD v4
3g.189868688T>CCA437413696TP63c.1101T>C (p.Ser367=)
c.819T>C (p.Ser273=)
c.564T>C (p.Ser188=)
n.925T>C
c.1050T>C (p.Ser350=)
c.1098T>C (p.Ser366=)
c.1095T>C (p.Ser365=)
c.1062T>C (p.Ser354=)
dbSNP
3g.189868688T>GCA355755324TP63c.1101T>G (p.Ser367Arg)
c.819T>G (p.Ser273Arg)
c.564T>G (p.Ser188Arg)
n.925T>G
c.1050T>G (p.Ser350Arg)
c.1098T>G (p.Ser366Arg)
c.1095T>G (p.Ser365Arg)
c.1062T>G (p.Ser354Arg)
dbSNP
3g.189868688_189868690dupCA1057639834TP63c.1101_1103dup (p.Thr368_Lys369insThr)
c.819_821dup (p.Thr274_Lys275insThr)
c.564_566dup (p.Thr189_Lys190insThr)
n.925_927dup
c.1050_1052dup (p.Thr351_Lys352insThr)
c.1098_1100dup (p.Thr367_Lys368insThr)
c.1095_1097dup (p.Thr366_Lys367insThr)
c.1062_1064dup (p.Thr355_Lys356insThr)
dbSNP gnomAD v3 gnomAD v4
3g.189868689A=CA1428495968TP63c.1102A= (p.Thr368=)
c.820A= (p.Thr274=)
c.565A= (p.Thr189=)
n.926A=
c.1051A= (p.Thr351=)
c.1099A= (p.Thr367=)
c.1096A= (p.Thr366=)
c.1063A= (p.Thr355=)
3g.189868689A>CCA355755325TP63c.1102A>C (p.Thr368Pro)
c.820A>C (p.Thr274Pro)
c.565A>C (p.Thr189Pro)
n.926A>C
c.1051A>C (p.Thr351Pro)
c.1099A>C (p.Thr367Pro)
c.1096A>C (p.Thr366Pro)
c.1063A>C (p.Thr355Pro)
3g.189868689A>GCA2752337TP63c.1102A>G (p.Thr368Ala)
c.820A>G (p.Thr274Ala)
c.565A>G (p.Thr189Ala)
n.926A>G
c.1051A>G (p.Thr351Ala)
c.1099A>G (p.Thr367Ala)
c.1096A>G (p.Thr366Ala)
c.1063A>G (p.Thr355Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868689A>TCA355755326TP63c.1102A>T (p.Thr368Ser)
c.820A>T (p.Thr274Ser)
c.565A>T (p.Thr189Ser)
n.926A>T
c.1051A>T (p.Thr351Ser)
c.1099A>T (p.Thr367Ser)
c.1096A>T (p.Thr366Ser)
c.1063A>T (p.Thr355Ser)
dbSNP
3g.189868690C>ACA355755327TP63c.1103C>A (p.Thr368Lys)
c.821C>A (p.Thr274Lys)
c.566C>A (p.Thr189Lys)
n.927C>A
c.1052C>A (p.Thr351Lys)
c.1100C>A (p.Thr367Lys)
c.1097C>A (p.Thr366Lys)
c.1064C>A (p.Thr355Lys)
3g.189868690C=CA1428495975TP63c.1103C= (p.Thr368=)
c.821C= (p.Thr274=)
c.566C= (p.Thr189=)
n.927C=
c.1052C= (p.Thr351=)
c.1100C= (p.Thr367=)
c.1097C= (p.Thr366=)
c.1064C= (p.Thr355=)
3g.189868690C>GCA355755328TP63c.1103C>G (p.Thr368Arg)
c.821C>G (p.Thr274Arg)
c.566C>G (p.Thr189Arg)
n.927C>G
c.1052C>G (p.Thr351Arg)
c.1100C>G (p.Thr367Arg)
c.1097C>G (p.Thr366Arg)
c.1064C>G (p.Thr355Arg)
dbSNP
3g.189868690C>TCA355755329TP63c.1103C>T (p.Thr368Ile)
c.821C>T (p.Thr274Ile)
c.566C>T (p.Thr189Ile)
n.927C>T
c.1052C>T (p.Thr351Ile)
c.1100C>T (p.Thr367Ile)
c.1097C>T (p.Thr366Ile)
c.1064C>T (p.Thr355Ile)
gnomAD v4
3g.189868691A=CA1428495978TP63c.1104A= (p.Thr368=)
c.822A= (p.Thr274=)
c.567A= (p.Thr189=)
n.928A=
c.1053A= (p.Thr351=)
c.1101A= (p.Thr367=)
c.1098A= (p.Thr366=)
c.1065A= (p.Thr355=)
3g.189868691A>CCA437413709TP63c.1104A>C (p.Thr368=)
c.822A>C (p.Thr274=)
c.567A>C (p.Thr189=)
n.928A>C
c.1053A>C (p.Thr351=)
c.1101A>C (p.Thr367=)
c.1098A>C (p.Thr366=)
c.1065A>C (p.Thr355=)
3g.189868691A>GCA2752338TP63c.1104A>G (p.Thr368=)
c.822A>G (p.Thr274=)
c.567A>G (p.Thr189=)
n.928A>G
c.1053A>G (p.Thr351=)
c.1101A>G (p.Thr367=)
c.1098A>G (p.Thr366=)
c.1065A>G (p.Thr355=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868691A>TCA437413707TP63c.1104A>T (p.Thr368=)
c.822A>T (p.Thr274=)
c.567A>T (p.Thr189=)
n.928A>T
c.1053A>T (p.Thr351=)
c.1101A>T (p.Thr367=)
c.1098A>T (p.Thr366=)
c.1065A>T (p.Thr355=)
3g.189868692A>CCA355755330TP63c.1105A>C (p.Lys369Gln)
c.823A>C (p.Lys275Gln)
c.568A>C (p.Lys190Gln)
n.929A>C
c.1054A>C (p.Lys352Gln)
c.1102A>C (p.Lys368Gln)
c.1099A>C (p.Lys367Gln)
c.1066A>C (p.Lys356Gln)
3g.189868692A>GCA355755332TP63c.1105A>G (p.Lys369Glu)
c.823A>G (p.Lys275Glu)
c.568A>G (p.Lys190Glu)
n.929A>G
c.1054A>G (p.Lys352Glu)
c.1102A>G (p.Lys368Glu)
c.1099A>G (p.Lys367Glu)
c.1066A>G (p.Lys356Glu)
3g.189868692A>TCA355755331TP63c.1105A>T (p.Lys369Ter)
c.823A>T (p.Lys275Ter)
c.568A>T (p.Lys190Ter)
n.929A>T
c.1054A>T (p.Lys352Ter)
c.1102A>T (p.Lys368Ter)
c.1099A>T (p.Lys367Ter)
c.1066A>T (p.Lys356Ter)
3g.189868693A=CA1428495981TP63c.1106A= (p.Lys369=)
c.824A= (p.Lys275=)
c.569A= (p.Lys190=)
n.930A=
c.1055A= (p.Lys352=)
c.1103A= (p.Lys368=)
c.1100A= (p.Lys367=)
c.1067A= (p.Lys356=)
3g.189868693A>CCA355755333TP63c.1106A>C (p.Lys369Thr)
c.824A>C (p.Lys275Thr)
c.569A>C (p.Lys190Thr)
n.930A>C
c.1055A>C (p.Lys352Thr)
c.1103A>C (p.Lys368Thr)
c.1100A>C (p.Lys367Thr)
c.1067A>C (p.Lys356Thr)
3g.189868693A>GCA2752339TP63c.1106A>G (p.Lys369Arg)
c.824A>G (p.Lys275Arg)
c.569A>G (p.Lys190Arg)
n.930A>G
c.1055A>G (p.Lys352Arg)
c.1103A>G (p.Lys368Arg)
c.1100A>G (p.Lys367Arg)
c.1067A>G (p.Lys356Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868693A>TCA355755334TP63c.1106A>T (p.Lys369Met)
c.824A>T (p.Lys275Met)
c.569A>T (p.Lys190Met)
n.930A>T
c.1055A>T (p.Lys352Met)
c.1103A>T (p.Lys368Met)
c.1100A>T (p.Lys367Met)
c.1067A>T (p.Lys356Met)
3g.189868694G>ACA437413718TP63c.1107G>A (p.Lys369=)
c.825G>A (p.Lys275=)
c.570G>A (p.Lys190=)
n.931G>A
c.1056G>A (p.Lys352=)
c.1104G>A (p.Lys368=)
c.1101G>A (p.Lys367=)
c.1068G>A (p.Lys356=)
ClinVar dbSNP gnomAD v4
3g.189868694G>CCA355755335TP63c.1107G>C (p.Lys369Asn)
c.825G>C (p.Lys275Asn)
c.570G>C (p.Lys190Asn)
n.931G>C
c.1056G>C (p.Lys352Asn)
c.1104G>C (p.Lys368Asn)
c.1101G>C (p.Lys367Asn)
c.1068G>C (p.Lys356Asn)
dbSNP COSMIC COSMIC COSMIC
3g.189868694G>TCA355755336TP63c.1107G>T (p.Lys369Asn)
c.825G>T (p.Lys275Asn)
c.570G>T (p.Lys190Asn)
n.931G>T
c.1056G>T (p.Lys352Asn)
c.1104G>T (p.Lys368Asn)
c.1101G>T (p.Lys367Asn)
c.1068G>T (p.Lys356Asn)
3g.189868695A>CCA355755337TP63c.1108A>C (p.Asn370His)
c.826A>C (p.Asn276His)
c.571A>C (p.Asn191His)
n.932A>C
c.1057A>C (p.Asn353His)
c.1105A>C (p.Asn369His)
c.1102A>C (p.Asn368His)
c.1069A>C (p.Asn357His)
dbSNP
3g.189868695A>GCA355755338TP63c.1108A>G (p.Asn370Asp)
c.826A>G (p.Asn276Asp)
c.571A>G (p.Asn191Asp)
n.932A>G
c.1057A>G (p.Asn353Asp)
c.1105A>G (p.Asn369Asp)
c.1102A>G (p.Asn368Asp)
c.1069A>G (p.Asn357Asp)
3g.189868695A>TCA355755339TP63c.1108A>T (p.Asn370Tyr)
c.826A>T (p.Asn276Tyr)
c.571A>T (p.Asn191Tyr)
n.932A>T
c.1057A>T (p.Asn353Tyr)
c.1105A>T (p.Asn369Tyr)
c.1102A>T (p.Asn368Tyr)
c.1069A>T (p.Asn357Tyr)
dbSNP
3g.189868696A=CA1428495986TP63c.1109A= (p.Asn370=)
c.827A= (p.Asn276=)
c.572A= (p.Asn191=)
n.933A=
c.1058A= (p.Asn353=)
c.1106A= (p.Asn369=)
c.1103A= (p.Asn368=)
c.1070A= (p.Asn357=)
3g.189868696A>CCA2752340TP63c.1109A>C (p.Asn370Thr)
c.827A>C (p.Asn276Thr)
c.572A>C (p.Asn191Thr)
n.933A>C
c.1058A>C (p.Asn353Thr)
c.1106A>C (p.Asn369Thr)
c.1103A>C (p.Asn368Thr)
c.1070A>C (p.Asn357Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868696A>GCA2752341TP63c.1109A>G (p.Asn370Ser)
c.827A>G (p.Asn276Ser)
c.572A>G (p.Asn191Ser)
n.933A>G
c.1058A>G (p.Asn353Ser)
c.1106A>G (p.Asn369Ser)
c.1103A>G (p.Asn368Ser)
c.1070A>G (p.Asn357Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868696A>TCA355755340TP63c.1109A>T (p.Asn370Ile)
c.827A>T (p.Asn276Ile)
c.572A>T (p.Asn191Ile)
n.933A>T
c.1058A>T (p.Asn353Ile)
c.1106A>T (p.Asn369Ile)
c.1103A>T (p.Asn368Ile)
c.1070A>T (p.Asn357Ile)
dbSNP
3g.189868697C>ACA355755341TP63c.1110C>A (p.Asn370Lys)
c.828C>A (p.Asn276Lys)
c.573C>A (p.Asn191Lys)
n.934C>A
c.1059C>A (p.Asn353Lys)
c.1107C>A (p.Asn369Lys)
c.1104C>A (p.Asn368Lys)
c.1071C>A (p.Asn357Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.189868697C=CA1428495994TP63c.1110C= (p.Asn370=)
c.828C= (p.Asn276=)
c.573C= (p.Asn191=)
n.934C=
c.1059C= (p.Asn353=)
c.1107C= (p.Asn369=)
c.1104C= (p.Asn368=)
c.1071C= (p.Asn357=)
3g.189868697C>GCA355755342TP63c.1110C>G (p.Asn370Lys)
c.828C>G (p.Asn276Lys)
c.573C>G (p.Asn191Lys)
n.934C>G
c.1059C>G (p.Asn353Lys)
c.1107C>G (p.Asn369Lys)
c.1104C>G (p.Asn368Lys)
c.1071C>G (p.Asn357Lys)
dbSNP
3g.189868697C>TCA2752342TP63c.1110C>T (p.Asn370=)
c.828C>T (p.Asn276=)
c.573C>T (p.Asn191=)
n.934C>T
c.1059C>T (p.Asn353=)
c.1107C>T (p.Asn369=)
c.1104C>T (p.Asn368=)
c.1071C>T (p.Asn357=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.189868698G>ACA2752343TP63c.1111G>A (p.Gly371Ser)
c.829G>A (p.Gly277Ser)
c.574G>A (p.Gly192Ser)
n.935G>A
c.1060G>A (p.Gly354Ser)
c.1108G>A (p.Gly370Ser)
c.1105G>A (p.Gly369Ser)
c.1072G>A (p.Gly358Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868698G>CCA355755343TP63c.1111G>C (p.Gly371Arg)
c.829G>C (p.Gly277Arg)
c.574G>C (p.Gly192Arg)
n.935G>C
c.1060G>C (p.Gly354Arg)
c.1108G>C (p.Gly370Arg)
c.1105G>C (p.Gly369Arg)
c.1072G>C (p.Gly358Arg)
dbSNP
3g.189868698G=CA1428496001TP63c.1111G= (p.Gly371=)
c.829G= (p.Gly277=)
c.574G= (p.Gly192=)
n.935G=
c.1060G= (p.Gly354=)
c.1108G= (p.Gly370=)
c.1105G= (p.Gly369=)
c.1072G= (p.Gly358=)
3g.189868698G>TCA355755344TP63c.1111G>T (p.Gly371Cys)
c.829G>T (p.Gly277Cys)
c.574G>T (p.Gly192Cys)
n.935G>T
c.1060G>T (p.Gly354Cys)
c.1108G>T (p.Gly370Cys)
c.1105G>T (p.Gly369Cys)
c.1072G>T (p.Gly358Cys)
dbSNP
3g.189868699G>ACA355755345TP63c.1112G>A (p.Gly371Asp)
c.830G>A (p.Gly277Asp)
c.575G>A (p.Gly192Asp)
n.936G>A
c.1061G>A (p.Gly354Asp)
c.1109G>A (p.Gly370Asp)
c.1106G>A (p.Gly369Asp)
c.1073G>A (p.Gly358Asp)
dbSNP
3g.189868699G>CCA355755346TP63c.1112G>C (p.Gly371Ala)
c.830G>C (p.Gly277Ala)
c.575G>C (p.Gly192Ala)
n.936G>C
c.1061G>C (p.Gly354Ala)
c.1109G>C (p.Gly370Ala)
c.1106G>C (p.Gly369Ala)
c.1073G>C (p.Gly358Ala)
dbSNP
3g.189868699G>TCA355755347TP63c.1112G>T (p.Gly371Val)
c.830G>T (p.Gly277Val)
c.575G>T (p.Gly192Val)
n.936G>T
c.1061G>T (p.Gly354Val)
c.1109G>T (p.Gly370Val)
c.1106G>T (p.Gly369Val)
c.1073G>T (p.Gly358Val)
3g.189868700T>ACA437413734TP63c.1113T>A (p.Gly371=)
c.831T>A (p.Gly277=)
c.576T>A (p.Gly192=)
n.937T>A
c.1062T>A (p.Gly354=)
c.1110T>A (p.Gly370=)
c.1107T>A (p.Gly369=)
c.1074T>A (p.Gly358=)
dbSNP
3g.189868700T>CCA437413736TP63c.1113T>C (p.Gly371=)
c.831T>C (p.Gly277=)
c.576T>C (p.Gly192=)
n.937T>C
c.1062T>C (p.Gly354=)
c.1110T>C (p.Gly370=)
c.1107T>C (p.Gly369=)
c.1074T>C (p.Gly358=)
3g.189868700T>GCA437413738TP63c.1113T>G (p.Gly371=)
c.831T>G (p.Gly277=)
c.576T>G (p.Gly192=)
n.937T>G
c.1062T>G (p.Gly354=)
c.1110T>G (p.Gly370=)
c.1107T>G (p.Gly369=)
c.1074T>G (p.Gly358=)
3g.189868701G>ACA355755348TP63c.1114G>A (p.Asp372Asn)
c.832G>A (p.Asp278Asn)
c.577G>A (p.Asp193Asn)
n.938G>A
c.1063G>A (p.Asp355Asn)
c.1111G>A (p.Asp371Asn)
c.1108G>A (p.Asp370Asn)
c.1075G>A (p.Asp359Asn)
dbSNP gnomAD v2 gnomAD v4
3g.189868701G>CCA355755349TP63c.1114G>C (p.Asp372His)
c.832G>C (p.Asp278His)
c.577G>C (p.Asp193His)
n.938G>C
c.1063G>C (p.Asp355His)
c.1111G>C (p.Asp371His)
c.1108G>C (p.Asp370His)
c.1075G>C (p.Asp359His)
dbSNP
3g.189868701G=CA1428496005TP63c.1114G= (p.Asp372=)
c.832G= (p.Asp278=)
c.577G= (p.Asp193=)
n.938G=
c.1063G= (p.Asp355=)
c.1111G= (p.Asp371=)
c.1108G= (p.Asp370=)
c.1075G= (p.Asp359=)
3g.189868701G>TCA355755350TP63c.1114G>T (p.Asp372Tyr)
c.832G>T (p.Asp278Tyr)
c.577G>T (p.Asp193Tyr)
n.938G>T
c.1063G>T (p.Asp355Tyr)
c.1111G>T (p.Asp371Tyr)
c.1108G>T (p.Asp370Tyr)
c.1075G>T (p.Asp359Tyr)
3g.189868702A>CCA355755351TP63c.1115A>C (p.Asp372Ala)
c.833A>C (p.Asp278Ala)
c.578A>C (p.Asp193Ala)
n.939A>C
c.1064A>C (p.Asp355Ala)
c.1112A>C (p.Asp371Ala)
c.1109A>C (p.Asp370Ala)
c.1076A>C (p.Asp359Ala)
3g.189868702A>GCA355755352TP63c.1115A>G (p.Asp372Gly)
c.833A>G (p.Asp278Gly)
c.578A>G (p.Asp193Gly)
n.939A>G
c.1064A>G (p.Asp355Gly)
c.1112A>G (p.Asp371Gly)
c.1109A>G (p.Asp370Gly)
c.1076A>G (p.Asp359Gly)
3g.189868702A>TCA355755353TP63c.1115A>T (p.Asp372Val)
c.833A>T (p.Asp278Val)
c.578A>T (p.Asp193Val)
n.939A>T
c.1064A>T (p.Asp355Val)
c.1112A>T (p.Asp371Val)
c.1109A>T (p.Asp370Val)
c.1076A>T (p.Asp359Val)
gnomAD v4
3g.189868703T>ACA355755355TP63c.1116T>A (p.Asp372Glu)
c.834T>A (p.Asp278Glu)
c.579T>A (p.Asp193Glu)
n.940T>A
c.1065T>A (p.Asp355Glu)
c.1113T>A (p.Asp371Glu)
c.1110T>A (p.Asp370Glu)
c.1077T>A (p.Asp359Glu)
3g.189868703T>CCA437413747TP63c.1116T>C (p.Asp372=)
c.834T>C (p.Asp278=)
c.579T>C (p.Asp193=)
n.940T>C
c.1065T>C (p.Asp355=)
c.1113T>C (p.Asp371=)
c.1110T>C (p.Asp370=)
c.1077T>C (p.Asp359=)
3g.189868703T>GCA355755354TP63c.1116T>G (p.Asp372Glu)
c.834T>G (p.Asp278Glu)
c.579T>G (p.Asp193Glu)
n.940T>G
c.1065T>G (p.Asp355Glu)
c.1113T>G (p.Asp371Glu)
c.1110T>G (p.Asp370Glu)
c.1077T>G (p.Asp359Glu)
3g.189868704G>ACA355755356TP63c.1117G>A (p.Gly373Ser)
c.835G>A (p.Gly279Ser)
c.1117G>A (p.Ala373Thr)
c.580G>A (p.Gly194Ser)
c.835G>A (p.Ala279Thr)
n.941G>A
c.1066G>A (p.Gly356Ser)
c.1114G>A (p.Gly372Ser)
c.1111G>A (p.Gly371Ser)
c.1078G>A (p.Gly360Ser)
c.580G>A (p.Ala194Thr)
3g.189868704G>CCA355755357TP63c.1117G>C (p.Gly373Arg)
c.835G>C (p.Gly279Arg)
c.1117G>C (p.Ala373Pro)
c.580G>C (p.Gly194Arg)
c.835G>C (p.Ala279Pro)
n.941G>C
c.1066G>C (p.Gly356Arg)
c.1114G>C (p.Gly372Arg)
c.1111G>C (p.Gly371Arg)
c.1078G>C (p.Gly360Arg)
c.580G>C (p.Ala194Pro)
3g.189868704G>TCA355755358TP63c.1117G>T (p.Gly373Cys)
c.835G>T (p.Gly279Cys)
c.1117G>T (p.Ala373Ser)
c.580G>T (p.Gly194Cys)
c.835G>T (p.Ala279Ser)
n.941G>T
c.1066G>T (p.Gly356Cys)
c.1114G>T (p.Gly372Cys)
c.1111G>T (p.Gly371Cys)
c.1078G>T (p.Gly360Cys)
c.580G>T (p.Ala194Ser)
3g.189868705G>ACA355755359TP63c.1118G>A (p.Gly373Asp)
c.836G>A (p.Gly279Asp)
c.1117+1G>A (n.1117+1G>A)
c.581G>A (p.Gly194Asp)
c.835+1G>A (n.835+1G>A)
n.942G>A
c.1067G>A (p.Gly356Asp)
c.1115G>A (p.Gly372Asp)
c.1112G>A (p.Gly371Asp)
c.1079G>A (p.Gly360Asp)
c.580+1G>A (n.580+1G>A)
dbSNP
3g.189868705G>CCA355755360TP63c.1118G>C (p.Gly373Ala)
c.836G>C (p.Gly279Ala)
c.1117+1G>C (n.1117+1G>C)
c.581G>C (p.Gly194Ala)
c.835+1G>C (n.835+1G>C)
n.942G>C
c.1067G>C (p.Gly356Ala)
c.1115G>C (p.Gly372Ala)
c.1112G>C (p.Gly371Ala)
c.1079G>C (p.Gly360Ala)
c.580+1G>C (n.580+1G>C)
dbSNP
3g.189868705G>TCA355755361TP63c.1118G>T (p.Gly373Val)
c.836G>T (p.Gly279Val)
c.1117+1G>T (n.1117+1G>T)
c.581G>T (p.Gly194Val)
c.835+1G>T (n.835+1G>T)
n.942G>T
c.1067G>T (p.Gly356Val)
c.1115G>T (p.Gly372Val)
c.1112G>T (p.Gly371Val)
c.1079G>T (p.Gly360Val)
c.580+1G>T (n.580+1G>T)
3g.189868706T>ACA355755362TP63c.1119T>A (p.Gly373=)
c.837T>A (p.Gly279=)
c.1117+2T>A (n.1117+2T>A)
c.582T>A (p.Gly194=)
c.835+2T>A (n.835+2T>A)
n.943T>A
c.1068T>A (p.Gly356=)
c.1116T>A (p.Gly372=)
c.1113T>A (p.Gly371=)
c.1080T>A (p.Gly360=)
c.580+2T>A (n.580+2T>A)
dbSNP
3g.189868706T>CCA355755363TP63c.1119T>C (p.Gly373=)
c.837T>C (p.Gly279=)
c.1117+2T>C (n.1117+2T>C)
c.582T>C (p.Gly194=)
c.835+2T>C (n.835+2T>C)
n.943T>C
c.1068T>C (p.Gly356=)
c.1116T>C (p.Gly372=)
c.1113T>C (p.Gly371=)
c.1080T>C (p.Gly360=)
c.580+2T>C (n.580+2T>C)
dbSNP
3g.189868706T>GCA355755364TP63c.1119T>G (p.Gly373=)
c.837T>G (p.Gly279=)
c.1117+2T>G (n.1117+2T>G)
c.582T>G (p.Gly194=)
c.835+2T>G (n.835+2T>G)
n.943T>G
c.1068T>G (p.Gly356=)
c.1116T>G (p.Gly372=)
c.1113T>G (p.Gly371=)
c.1080T>G (p.Gly360=)
c.580+2T>G (n.580+2T>G)
dbSNP
3g.189868707A>CCA355755365TP63c.1120A>C (p.Thr374Pro)
c.838A>C (p.Thr280Pro)
c.1117+3A>C (n.1117+3A>C)
c.583A>C (p.Thr195Pro)
c.835+3A>C (n.835+3A>C)
n.944A>C
c.1069A>C (p.Thr357Pro)
c.1117A>C (p.Thr373Pro)
c.1114A>C (p.Thr372Pro)
c.1081A>C (p.Thr361Pro)
c.580+3A>C (n.580+3A>C)
dbSNP
3g.189868707A>GCA355755366TP63c.1120A>G (p.Thr374Ala)
c.838A>G (p.Thr280Ala)
c.1117+3A>G (n.1117+3A>G)
c.583A>G (p.Thr195Ala)
c.835+3A>G (n.835+3A>G)
n.944A>G
c.1069A>G (p.Thr357Ala)
c.1117A>G (p.Thr373Ala)
c.1114A>G (p.Thr372Ala)
c.1081A>G (p.Thr361Ala)
c.580+3A>G (n.580+3A>G)
3g.189868707A>TCA355755367TP63c.1120A>T (p.Thr374Ser)
c.838A>T (p.Thr280Ser)
c.1117+3A>T (n.1117+3A>T)
c.583A>T (p.Thr195Ser)
c.835+3A>T (n.835+3A>T)
n.944A>T
c.1069A>T (p.Thr357Ser)
c.1117A>T (p.Thr373Ser)
c.1114A>T (p.Thr372Ser)
c.1081A>T (p.Thr361Ser)
c.580+3A>T (n.580+3A>T)
dbSNP
3g.189868708C>ACA355755369TP63c.1121C>A (p.Thr374Lys)
c.839C>A (p.Thr280Lys)
c.1117+4C>A (n.1117+4C>A)
c.584C>A (p.Thr195Lys)
c.835+4C>A (n.835+4C>A)
n.945C>A
c.1070C>A (p.Thr357Lys)
c.1118C>A (p.Thr373Lys)
c.1115C>A (p.Thr372Lys)
c.1082C>A (p.Thr361Lys)
c.580+4C>A (n.580+4C>A)
dbSNP
3g.189868708C=CA1428496008TP63c.1121C= (p.Thr374=)
c.839C= (p.Thr280=)
c.1117+4C= (n.1117+4C=)
c.584C= (p.Thr195=)
c.835+4C= (n.835+4C=)
n.945C=
c.1070C= (p.Thr357=)
c.1118C= (p.Thr373=)
c.1115C= (p.Thr372=)
c.1082C= (p.Thr361=)
c.580+4C= (n.580+4C=)
3g.189868708C>GCA355755368TP63c.1121C>G (p.Thr374Arg)
c.839C>G (p.Thr280Arg)
c.1117+4C>G (n.1117+4C>G)
c.584C>G (p.Thr195Arg)
c.835+4C>G (n.835+4C>G)
n.945C>G
c.1070C>G (p.Thr357Arg)
c.1118C>G (p.Thr373Arg)
c.1115C>G (p.Thr372Arg)
c.1082C>G (p.Thr361Arg)
c.580+4C>G (n.580+4C>G)
dbSNP
3g.189868708C>TCA2752344TP63c.1121C>T (p.Thr374Met)
c.839C>T (p.Thr280Met)
c.1117+4C>T (n.1117+4C>T)
c.584C>T (p.Thr195Met)
c.835+4C>T (n.835+4C>T)
n.945C>T
c.1070C>T (p.Thr357Met)
c.1118C>T (p.Thr373Met)
c.1115C>T (p.Thr372Met)
c.1082C>T (p.Thr361Met)
c.580+4C>T (n.580+4C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189868709G>ACA2752345TP63c.1122G>A (p.Thr374=)
c.840G>A (p.Thr280=)
c.1117+5G>A (n.1117+5G>A)
c.585G>A (p.Thr195=)
c.835+5G>A (n.835+5G>A)
n.946G>A
c.1071G>A (p.Thr357=)
c.1119G>A (p.Thr373=)
c.1116G>A (p.Thr372=)
c.1083G>A (p.Thr361=)
c.580+5G>A (n.580+5G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.189868709G>CCA437413759TP63c.1122G>C (p.Thr374=)
c.840G>C (p.Thr280=)
c.1117+5G>C (n.1117+5G>C)
c.585G>C (p.Thr195=)
c.835+5G>C (n.835+5G>C)
n.946G>C
c.1071G>C (p.Thr357=)
c.1119G>C (p.Thr373=)
c.1116G>C (p.Thr372=)
c.1083G>C (p.Thr361=)
c.580+5G>C (n.580+5G>C)
dbSNP
3g.189868709G=CA1428496013TP63c.1122G= (p.Thr374=)
c.840G= (p.Thr280=)
c.1117+5G= (n.1117+5G=)
c.585G= (p.Thr195=)
c.835+5G= (n.835+5G=)
n.946G=
c.1071G= (p.Thr357=)
c.1119G= (p.Thr373=)
c.1116G= (p.Thr372=)
c.1083G= (p.Thr361=)
c.580+5G= (n.580+5G=)
3g.189868709G>TCA437413761TP63c.1122G>T (p.Thr374=)
c.840G>T (p.Thr280=)
c.1117+5G>T (n.1117+5G>T)
c.585G>T (p.Thr195=)
c.835+5G>T (n.835+5G>T)
n.946G>T
c.1071G>T (p.Thr357=)
c.1119G>T (p.Thr373=)
c.1116G>T (p.Thr372=)
c.1083G>T (p.Thr361=)
c.580+5G>T (n.580+5G>T)
3g.189868710A>CCA355755372TP63c.1123A>C (p.Lys375Gln)
c.841A>C (p.Lys281Gln)
c.1117+6A>C (n.1117+6A>C)
c.586A>C (p.Lys196Gln)
c.835+6A>C (n.835+6A>C)
n.947A>C
c.1072A>C (p.Lys358Gln)
c.1120A>C (p.Lys374Gln)
c.1117A>C (p.Lys373Gln)
c.1084A>C (p.Lys362Gln)
c.580+6A>C (n.580+6A>C)
3g.189868710A>GCA355755370TP63c.1123A>G (p.Lys375Glu)
c.841A>G (p.Lys281Glu)
c.1117+6A>G (n.1117+6A>G)
c.586A>G (p.Lys196Glu)
c.835+6A>G (n.835+6A>G)
n.947A>G
c.1072A>G (p.Lys358Glu)
c.1120A>G (p.Lys374Glu)
c.1117A>G (p.Lys373Glu)
c.1084A>G (p.Lys362Glu)
c.580+6A>G (n.580+6A>G)
3g.189868710A>TCA355755371TP63c.1123A>T (p.Lys375Ter)
c.841A>T (p.Lys281Ter)
c.1117+6A>T (n.1117+6A>T)
c.586A>T (p.Lys196Ter)
c.835+6A>T (n.835+6A>T)
n.947A>T
c.1072A>T (p.Lys358Ter)
c.1120A>T (p.Lys374Ter)
c.1117A>T (p.Lys373Ter)
c.1084A>T (p.Lys362Ter)
c.580+6A>T (n.580+6A>T)
dbSNP
3g.189868711A>CCA355755373TP63c.1124A>C (p.Lys375Thr)
c.842A>C (p.Lys281Thr)
c.1117+7A>C (n.1117+7A>C)
c.587A>C (p.Lys196Thr)
c.835+7A>C (n.835+7A>C)
n.948A>C
c.1073A>C (p.Lys358Thr)
c.1121A>C (p.Lys374Thr)
c.1118A>C (p.Lys373Thr)
c.1085A>C (p.Lys362Thr)
c.580+7A>C (n.580+7A>C)
3g.189868711A>GCA355755374TP63c.1124A>G (p.Lys375Arg)
c.842A>G (p.Lys281Arg)
c.1117+7A>G (n.1117+7A>G)
c.587A>G (p.Lys196Arg)
c.835+7A>G (n.835+7A>G)
n.948A>G
c.1073A>G (p.Lys358Arg)
c.1121A>G (p.Lys374Arg)
c.1118A>G (p.Lys373Arg)
c.1085A>G (p.Lys362Arg)
c.580+7A>G (n.580+7A>G)
dbSNP
3g.189868711A>TCA355755375TP63c.1124A>T (p.Lys375Met)
c.842A>T (p.Lys281Met)
c.1117+7A>T (n.1117+7A>T)
c.587A>T (p.Lys196Met)
c.835+7A>T (n.835+7A>T)
n.948A>T
c.1073A>T (p.Lys358Met)
c.1121A>T (p.Lys374Met)
c.1118A>T (p.Lys373Met)
c.1085A>T (p.Lys362Met)
c.580+7A>T (n.580+7A>T)
dbSNP
3g.189868712G>ACA437413767TP63c.1125G>A (p.Lys375=)
c.843G>A (p.Lys281=)
c.1117+8G>A (n.1117+8G>A)
c.588G>A (p.Lys196=)
c.835+8G>A (n.835+8G>A)
n.949G>A
c.1074G>A (p.Lys358=)
c.1122G>A (p.Lys374=)
c.1119G>A (p.Lys373=)
c.1086G>A (p.Lys362=)
c.580+8G>A (n.580+8G>A)
3g.189868712G>CCA355755376TP63c.1125G>C (p.Lys375Asn)
c.843G>C (p.Lys281Asn)
c.1117+8G>C (n.1117+8G>C)
c.588G>C (p.Lys196Asn)
c.835+8G>C (n.835+8G>C)
n.949G>C
c.1074G>C (p.Lys358Asn)
c.1122G>C (p.Lys374Asn)
c.1119G>C (p.Lys373Asn)
c.1086G>C (p.Lys362Asn)
c.580+8G>C (n.580+8G>C)
dbSNP
3g.189868712G=CA1428496020TP63c.1125G= (p.Lys375=)
c.843G= (p.Lys281=)
c.1117+8G= (n.1117+8G=)
c.588G= (p.Lys196=)
c.835+8G= (n.835+8G=)
n.949G=
c.1074G= (p.Lys358=)
c.1122G= (p.Lys374=)
c.1119G= (p.Lys373=)
c.1086G= (p.Lys362=)
c.580+8G= (n.580+8G=)
3g.189868712G>TCA355755377TP63c.1125G>T (p.Lys375Asn)
c.843G>T (p.Lys281Asn)
c.1117+8G>T (n.1117+8G>T)
c.588G>T (p.Lys196Asn)
c.835+8G>T (n.835+8G>T)
n.949G>T
c.1074G>T (p.Lys358Asn)
c.1122G>T (p.Lys374Asn)
c.1119G>T (p.Lys373Asn)
c.1086G>T (p.Lys362Asn)
c.580+8G>T (n.580+8G>T)
gnomAD v4
3g.189868713C>ACA355755378TP63c.1126C>A (p.Arg376Ser)
c.844C>A (p.Arg282Ser)
c.1117+9C>A (n.1117+9C>A)
c.589C>A (p.Arg197Ser)
c.835+9C>A (n.835+9C>A)
n.950C>A
c.1075C>A (p.Arg359Ser)
c.1123C>A (p.Arg375Ser)
c.1120C>A (p.Arg374Ser)
c.1087C>A (p.Arg363Ser)
c.580+9C>A (n.580+9C>A)
dbSNP
3g.189868713C=CA1428496023TP63c.1126C= (p.Arg376=)
c.844C= (p.Arg282=)
c.1117+9C= (n.1117+9C=)
c.589C= (p.Arg197=)
c.835+9C= (n.835+9C=)
n.950C=
c.1075C= (p.Arg359=)
c.1123C= (p.Arg375=)
c.1120C= (p.Arg374=)
c.1087C= (p.Arg363=)
c.580+9C= (n.580+9C=)
3g.189868713C>GCA355755379TP63c.1126C>G (p.Arg376Gly)
c.844C>G (p.Arg282Gly)
c.1117+9C>G (n.1117+9C>G)
c.589C>G (p.Arg197Gly)
c.835+9C>G (n.835+9C>G)
n.950C>G
c.1075C>G (p.Arg359Gly)
c.1123C>G (p.Arg375Gly)
c.1120C>G (p.Arg374Gly)
c.1087C>G (p.Arg363Gly)
c.580+9C>G (n.580+9C>G)
dbSNP
3g.189868713C>TCA2752346TP63c.1126C>T (p.Arg376Cys)
c.844C>T (p.Arg282Cys)
c.1117+9C>T (n.1117+9C>T)
c.589C>T (p.Arg197Cys)
c.835+9C>T (n.835+9C>T)
n.950C>T
c.1075C>T (p.Arg359Cys)
c.1123C>T (p.Arg375Cys)
c.1120C>T (p.Arg374Cys)
c.1087C>T (p.Arg363Cys)
c.580+9C>T (n.580+9C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189868714G>ACA2752347TP63c.1127G>A (p.Arg376His)
c.845G>A (p.Arg282His)
c.1117+10G>A (n.1117+10G>A)
c.590G>A (p.Arg197His)
c.835+10G>A (n.835+10G>A)
n.951G>A
c.1076G>A (p.Arg359His)
c.1124G>A (p.Arg375His)
c.1121G>A (p.Arg374His)
c.1088G>A (p.Arg363His)
c.580+10G>A (n.580+10G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189868714G>CCA355755380TP63c.1127G>C (p.Arg376Pro)
c.845G>C (p.Arg282Pro)
c.1117+10G>C (n.1117+10G>C)
c.590G>C (p.Arg197Pro)
c.835+10G>C (n.835+10G>C)
n.951G>C
c.1076G>C (p.Arg359Pro)
c.1124G>C (p.Arg375Pro)
c.1121G>C (p.Arg374Pro)
c.1088G>C (p.Arg363Pro)
c.580+10G>C (n.580+10G>C)
dbSNP
3g.189868714G=CA1428496029TP63c.1127G= (p.Arg376=)
c.845G= (p.Arg282=)
c.1117+10G= (n.1117+10G=)
c.590G= (p.Arg197=)
c.835+10G= (n.835+10G=)
n.951G=
c.1076G= (p.Arg359=)
c.1124G= (p.Arg375=)
c.1121G= (p.Arg374=)
c.1088G= (p.Arg363=)
c.580+10G= (n.580+10G=)
3g.189868714G>TCA355755381TP63c.1127G>T (p.Arg376Leu)
c.845G>T (p.Arg282Leu)
c.1117+10G>T (n.1117+10G>T)
c.590G>T (p.Arg197Leu)
c.835+10G>T (n.835+10G>T)
n.951G>T
c.1076G>T (p.Arg359Leu)
c.1124G>T (p.Arg375Leu)
c.1121G>T (p.Arg374Leu)
c.1088G>T (p.Arg363Leu)
c.580+10G>T (n.580+10G>T)
gnomAD v4
3g.189868715C>ACA437413776TP63c.1128C>A (p.Arg376=)
c.846C>A (p.Arg282=)
c.1117+11C>A (n.1117+11C>A)
c.591C>A (p.Arg197=)
c.835+11C>A (n.835+11C>A)
n.952C>A
c.1077C>A (p.Arg359=)
c.1125C>A (p.Arg375=)
c.1122C>A (p.Arg374=)
c.1089C>A (p.Arg363=)
c.580+11C>A (n.580+11C>A)
dbSNP
3g.189868715C=CA1428496033TP63c.1128C= (p.Arg376=)
c.846C= (p.Arg282=)
c.1117+11C= (n.1117+11C=)
c.591C= (p.Arg197=)
c.835+11C= (n.835+11C=)
n.952C=
c.1077C= (p.Arg359=)
c.1125C= (p.Arg375=)
c.1122C= (p.Arg374=)
c.1089C= (p.Arg363=)
c.580+11C= (n.580+11C=)
3g.189868715C>GCA437413778TP63c.1128C>G (p.Arg376=)
c.846C>G (p.Arg282=)
c.1117+11C>G (n.1117+11C>G)
c.591C>G (p.Arg197=)
c.835+11C>G (n.835+11C>G)
n.952C>G
c.1077C>G (p.Arg359=)
c.1125C>G (p.Arg375=)
c.1122C>G (p.Arg374=)
c.1089C>G (p.Arg363=)
c.580+11C>G (n.580+11C>G)
dbSNP
3g.189868715C>TCA437413780TP63c.1128C>T (p.Arg376=)
c.846C>T (p.Arg282=)
c.1117+11C>T (n.1117+11C>T)
c.591C>T (p.Arg197=)
c.835+11C>T (n.835+11C>T)
n.952C>T
c.1077C>T (p.Arg359=)
c.1125C>T (p.Arg375=)
c.1122C>T (p.Arg374=)
c.1089C>T (p.Arg363=)
c.580+11C>T (n.580+11C>T)
dbSNP COSMIC COSMIC
3g.189868716C>ACA355755382TP63c.1129C>A (p.Pro377Thr)
c.847C>A (p.Pro283Thr)
c.1117+12C>A (n.1117+12C>A)
c.592C>A (p.Pro198Thr)
c.835+12C>A (n.835+12C>A)
n.953C>A
c.1078C>A (p.Pro360Thr)
c.1126C>A (p.Pro376Thr)
c.1123C>A (p.Pro375Thr)
c.1090C>A (p.Pro364Thr)
c.580+12C>A (n.580+12C>A)
dbSNP
3g.189868716C=CA1428496042TP63c.1129C= (p.Pro377=)
c.847C= (p.Pro283=)
c.1117+12C= (n.1117+12C=)
c.592C= (p.Pro198=)
c.835+12C= (n.835+12C=)
n.953C=
c.1078C= (p.Pro360=)
c.1126C= (p.Pro376=)
c.1123C= (p.Pro375=)
c.1090C= (p.Pro364=)
c.580+12C= (n.580+12C=)
3g.189868716C>GCA355755383TP63c.1129C>G (p.Pro377Ala)
c.847C>G (p.Pro283Ala)
c.1117+12C>G (n.1117+12C>G)
c.592C>G (p.Pro198Ala)
c.835+12C>G (n.835+12C>G)
n.953C>G
c.1078C>G (p.Pro360Ala)
c.1126C>G (p.Pro376Ala)
c.1123C>G (p.Pro375Ala)
c.1090C>G (p.Pro364Ala)
c.580+12C>G (n.580+12C>G)
dbSNP
3g.189868716C>TCA2752348TP63c.1129C>T (p.Pro377Ser)
c.847C>T (p.Pro283Ser)
c.1117+12C>T (n.1117+12C>T)
c.592C>T (p.Pro198Ser)
c.835+12C>T (n.835+12C>T)
n.953C>T
c.1078C>T (p.Pro360Ser)
c.1126C>T (p.Pro376Ser)
c.1123C>T (p.Pro375Ser)
c.1090C>T (p.Pro364Ser)
c.580+12C>T (n.580+12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.189868717G>ACA2752349TP63c.1129+1G>A (n.1129+1G>A)
c.847+1G>A (n.847+1G>A)
c.1117+13G>A (n.1117+13G>A)
c.592+1G>A (n.592+1G>A)
c.835+13G>A (n.835+13G>A)
n.953+1G>A
c.1078+1G>A (n.1078+1G>A)
c.1126+1G>A (n.1126+1G>A)
c.1123+1G>A (n.1123+1G>A)
c.1090+1G>A (n.1090+1G>A)
c.580+13G>A (n.580+13G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.189868717G>CCA355755384TP63c.1129+1G>C (n.1129+1G>C)
c.847+1G>C (n.847+1G>C)
c.1117+13G>C (n.1117+13G>C)
c.592+1G>C (n.592+1G>C)
c.835+13G>C (n.835+13G>C)
n.953+1G>C
c.1078+1G>C (n.1078+1G>C)
c.1126+1G>C (n.1126+1G>C)
c.1123+1G>C (n.1123+1G>C)
c.1090+1G>C (n.1090+1G>C)
c.580+13G>C (n.580+13G>C)
dbSNP gnomAD v4
3g.189868717G=CA1428496048TP63c.1129+1G= (n.1129+1G=)
c.847+1G= (n.847+1G=)
c.1117+13G= (n.1117+13G=)
c.592+1G= (n.592+1G=)
c.835+13G= (n.835+13G=)
n.953+1G=
c.1078+1G= (n.1078+1G=)
c.1126+1G= (n.1126+1G=)
c.1123+1G= (n.1123+1G=)
c.1090+1G= (n.1090+1G=)
c.580+13G= (n.580+13G=)
3g.189868717G>TCA355755385TP63c.1129+1G>T (n.1129+1G>T)
c.847+1G>T (n.847+1G>T)
c.1117+13G>T (n.1117+13G>T)
c.592+1G>T (n.592+1G>T)
c.835+13G>T (n.835+13G>T)
n.953+1G>T
c.1078+1G>T (n.1078+1G>T)
c.1126+1G>T (n.1126+1G>T)
c.1123+1G>T (n.1123+1G>T)
c.1090+1G>T (n.1090+1G>T)
c.580+13G>T (n.580+13G>T)
3g.189868718T>ACA355755386TP63c.1129+2T>A (n.1129+2T>A)
c.847+2T>A (n.847+2T>A)
c.1117+14T>A (n.1117+14T>A)
c.592+2T>A (n.592+2T>A)
c.835+14T>A (n.835+14T>A)
n.953+2T>A
c.1078+2T>A (n.1078+2T>A)
c.1126+2T>A (n.1126+2T>A)
c.1123+2T>A (n.1123+2T>A)
c.1090+2T>A (n.1090+2T>A)
c.580+14T>A (n.580+14T>A)
3g.189868718T>CCA355755387TP63c.1129+2T>C (n.1129+2T>C)
c.847+2T>C (n.847+2T>C)
c.1117+14T>C (n.1117+14T>C)
c.592+2T>C (n.592+2T>C)
c.835+14T>C (n.835+14T>C)
n.953+2T>C
c.1078+2T>C (n.1078+2T>C)
c.1126+2T>C (n.1126+2T>C)
c.1123+2T>C (n.1123+2T>C)
c.1090+2T>C (n.1090+2T>C)
c.580+14T>C (n.580+14T>C)
3g.189868718T>GCA355755388TP63c.1129+2T>G (n.1129+2T>G)
c.847+2T>G (n.847+2T>G)
c.1117+14T>G (n.1117+14T>G)
c.592+2T>G (n.592+2T>G)
c.835+14T>G (n.835+14T>G)
n.953+2T>G
c.1078+2T>G (n.1078+2T>G)
c.1126+2T>G (n.1126+2T>G)
c.1123+2T>G (n.1123+2T>G)
c.1090+2T>G (n.1090+2T>G)
c.580+14T>G (n.580+14T>G)
3g.189868718dupCA548483592TP63c.1129+2dup (n.1129+2dup)
c.847+2dup (n.847+2dup)
c.1117+14dup (n.1117+14dup)
c.592+2dup (n.592+2dup)
c.835+14dup (n.835+14dup)
n.953+2dup
c.1078+2dup (n.1078+2dup)
c.1126+2dup (n.1126+2dup)
c.1123+2dup (n.1123+2dup)
c.1090+2dup (n.1090+2dup)
c.580+14dup (n.580+14dup)
dbSNP gnomAD v2
3g.189868719A=CA1428496054TP63c.1129+3A= (n.1129+3A=)
c.847+3A= (n.847+3A=)
c.1117+15A= (n.1117+15A=)
c.592+3A= (n.592+3A=)
c.835+15A= (n.835+15A=)
n.953+3A=
c.1078+3A= (n.1078+3A=)
c.1126+3A= (n.1126+3A=)
c.1123+3A= (n.1123+3A=)
c.1090+3A= (n.1090+3A=)
c.580+15A= (n.580+15A=)
3g.189868719A>GCA89746870TP63c.1129+3A>G (n.1129+3A>G)
c.847+3A>G (n.847+3A>G)
c.1117+15A>G (n.1117+15A>G)
c.592+3A>G (n.592+3A>G)
c.835+15A>G (n.835+15A>G)
n.953+3A>G
c.1078+3A>G (n.1078+3A>G)
c.1126+3A>G (n.1126+3A>G)
c.1123+3A>G (n.1123+3A>G)
c.1090+3A>G (n.1090+3A>G)
c.580+15A>G (n.580+15A>G)
dbSNP gnomAD v4
3g.189868720A>TCA2669042482TP63c.1129+4A>T (n.1129+4A>T)
c.847+4A>T (n.847+4A>T)
c.1117+16A>T (n.1117+16A>T)
c.592+4A>T (n.592+4A>T)
c.835+16A>T (n.835+16A>T)
n.953+4A>T
c.1078+4A>T (n.1078+4A>T)
c.1126+4A>T (n.1126+4A>T)
c.1123+4A>T (n.1123+4A>T)
c.1090+4A>T (n.1090+4A>T)
c.580+16A>T (n.580+16A>T)
dbSNP gnomAD v4

Number of alleles fetched