Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.17816846A=CA2326044678INSL3c.*8T= (n.*8T=)
c.*25T= (n.*25T=)
c.425T=
19g.17816846A>CCA9301219INSL3c.*8T>G (n.*8T>G)
c.*25T>G (n.*25T>G)
c.425T>G
 dbSNP ExAC gnomAD v2
19g.17816848G>ACA9301220INSL3c.*6C>T (n.*6C>T)
c.*23C>T (n.*23C>T)
c.423C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17816848G=CA2326044679INSL3c.*6C= (n.*6C=)
c.*23C= (n.*23C=)
c.423C=
19g.17816849A>GCA2583419016INSL3c.*5T>C (n.*5T>C)
c.*22T>C (n.*22T>C)
c.422T>C
 gnomAD v4
19g.17816853A=CA2326044680INSL3c.*1T= (n.*1T=)
c.*18T= (n.*18T=)
c.418T=
19g.17816853A>GCA9301221INSL3c.*1T>C (n.*1T>C)
c.*18T>C (n.*18T>C)
c.418T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17816854T>ACA404760538INSL3c.396A>T (p.Ter132Cys)
c.*17A>T (n.*17A>T)
c.417A>T
19g.17816854T>CCA404760539INSL3c.396A>G (p.Ter132Trp)
c.*17A>G (n.*17A>G)
c.417A>G
19g.17816854T>GCA404760540INSL3c.396A>C (p.Ter132Cys)
c.*17A>C (n.*17A>C)
c.417A>C
19g.17816855C>ACA404760541INSL3c.395G>T (p.Ter132Leu)
c.*16G>T (n.*16G>T)
c.416G>T
19g.17816855C>GCA404760542INSL3c.395G>C (p.Ter132Ser)
c.*16G>C (n.*16G>C)
c.416G>C
19g.17816856A=CA2326044681INSL3c.394T= (p.Ter132=)
c.*15T= (n.*15T=)
c.415T=
19g.17816856A>CCA404760543INSL3c.394T>G (p.Ter132Gly)
c.*15T>G (n.*15T>G)
c.415T>G
19g.17816856A>GCA404760544INSL3c.394T>C (p.Ter132Arg)
c.*15T>C (n.*15T>C)
c.415T>C
 dbSNP gnomAD v4
19g.17816856A>TCA404760545INSL3c.394T>A (p.Ter132Arg)
c.*15T>A (n.*15T>A)
c.415T>A
19g.17816857G>CCA404760546INSL3c.393C>G (p.Tyr131Ter)
c.*14C>G (n.*14C>G)
c.414C>G
19g.17816857G>TCA404760547INSL3c.393C>A (p.Tyr131Ter)
c.*14C>A (n.*14C>A)
c.414C>A
19g.17816858T>ACA404760550INSL3c.392A>T (p.Tyr131Phe)
c.*13A>T (n.*13A>T)
c.413A>T
19g.17816858T>CCA404760548INSL3c.392A>G (p.Tyr131Cys)
c.*13A>G (n.*13A>G)
c.413A>G
 dbSNP gnomAD v4
19g.17816858T>GCA404760549INSL3c.392A>C (p.Tyr131Ser)
c.*13A>C (n.*13A>C)
c.413A>C
 gnomAD v4
19g.17816858T=CA2326044682INSL3c.392A= (p.Tyr131=)
c.*13A= (n.*13A=)
c.413A=
19g.17816859A>CCA404760551INSL3c.391T>G (p.Tyr131Asp)
c.*12T>G (n.*12T>G)
c.412T>G
19g.17816859A>GCA404760552INSL3c.391T>C (p.Tyr131His)
c.*12T>C (n.*12T>C)
c.412T>C
19g.17816859A>TCA404760553INSL3c.391T>A (p.Tyr131Asn)
c.*12T>A (n.*12T>A)
c.412T>A
19g.17816860G>ACA2581993291INSL3c.390C>T (p.Pro130=)
c.*11C>T (n.*11C>T)
c.411C>T
 dbSNP gnomAD v3 gnomAD v4
19g.17816861G>ACA404760554INSL3c.389C>T (p.Pro130Leu)
c.*10C>T (n.*10C>T)
c.410C>T
 COSMIC
19g.17816861G>CCA404760555INSL3c.389C>G (p.Pro130Arg)
c.*10C>G (n.*10C>G)
c.410C>G
19g.17816861G>TCA404760556INSL3c.389C>A (p.Pro130His)
c.*10C>A (n.*10C>A)
c.410C>A
19g.17816862G>ACA404760557INSL3c.388C>T (p.Pro130Ser)
c.*9C>T (n.*9C>T)
c.409C>T
 gnomAD v4
19g.17816862G>CCA404760558INSL3c.388C>G (p.Pro130Ala)
c.*9C>G (n.*9C>G)
c.409C>G
19g.17816862G>TCA404760559INSL3c.388C>A (p.Pro130Thr)
c.*9C>A (n.*9C>A)
c.409C>A
 gnomAD v4
19g.17816863A>CCA404760560INSL3c.387T>G (p.Cys129Trp)
c.*8T>G (n.*8T>G)
c.408T>G
19g.17816863A>TCA404760561INSL3c.387T>A (p.Cys129Ter)
c.*8T>A (n.*8T>A)
c.408T>A
19g.17816864C>ACA404760564INSL3c.386G>T (p.Cys129Phe)
c.*7G>T (n.*7G>T)
c.407G>T
19g.17816864C=CA2326044683INSL3c.386G= (p.Cys129=)
c.*7G= (n.*7G=)
c.407G=
19g.17816864C>GCA404760563INSL3c.386G>C (p.Cys129Ser)
c.*7G>C (n.*7G>C)
c.407G>C
 dbSNP gnomAD v2 gnomAD v4
19g.17816864C>TCA404760562INSL3c.386G>A (p.Cys129Tyr)
c.*7G>A (n.*7G>A)
c.407G>A
 gnomAD v4
19g.17816865A>CCA404760565INSL3c.385T>G (p.Cys129Gly)
c.*6T>G (n.*6T>G)
c.406T>G
19g.17816865A>GCA404760566INSL3c.385T>C (p.Cys129Arg)
c.*6T>C (n.*6T>C)
c.406T>C
19g.17816865A>TCA404760567INSL3c.385T>A (p.Cys129Ser)
c.*6T>A (n.*6T>A)
c.406T>A
19g.17816866G>ACA2576716958INSL3c.384C>T (p.Leu128=)
c.*5C>T (n.*5C>T)
c.405C>T
19g.17816867A>CCA404760568INSL3c.383T>G (p.Leu128Arg)
c.*4T>G (n.*4T>G)
c.404T>G
19g.17816867A>GCA404760569INSL3c.383T>C (p.Leu128Pro)
c.*4T>C (n.*4T>C)
c.404T>C
 gnomAD v4
19g.17816867A>TCA404760570INSL3c.383T>A (p.Leu128His)
c.*4T>A (n.*4T>A)
c.404T>A
19g.17816868G>ACA404760571INSL3c.382C>T (p.Leu128Phe)
c.*3C>T (n.*3C>T)
c.403C>T
19g.17816868G>CCA404760572INSL3c.382C>G (p.Leu128Val)
c.*3C>G (n.*3C>G)
c.403C>G
19g.17816868G>TCA404760573INSL3c.382C>A (p.Leu128Ile)
c.*3C>A (n.*3C>A)
c.403C>A
19g.17816870dupCA2583419017INSL3c.382dup (p.Leu128ProfsTer27)
c.*3dup (n.*3dup)
c.403dup
 gnomAD v4
19g.17816870G>ACA404760574INSL3c.380C>T (p.Thr127Ile)
c.*1C>T (n.*1C>T)
c.401C>T
 ClinVar gnomAD v4
19g.17816870G>CCA404760575INSL3c.380C>G (p.Thr127Ser)
c.*1C>G (n.*1C>G)
c.401C>G
 ClinVar dbSNP
19g.17816870G>TCA404760576INSL3c.380C>A (p.Thr127Asn)
c.*1C>A (n.*1C>A)
c.401C>A
19g.17816871T>ACA404760579INSL3c.379A>T (p.Thr127Ser)
c.474A>T (p.Ter158Cys)
c.400A>T
19g.17816871T>CCA404760578INSL3c.379A>G (p.Thr127Ala)
c.474A>G (p.Ter158Trp)
c.400A>G
19g.17816871T>GCA404760577INSL3c.379A>C (p.Thr127Pro)
c.474A>C (p.Ter158Cys)
c.400A>C
19g.17816872C>ACA404760580INSL3c.378G>T (p.Leu126=)
c.473G>T (p.Ter158Leu)
c.399G>T
19g.17816872C>GCA404760581INSL3c.378G>C (p.Leu126=)
c.473G>C (p.Ter158Ser)
c.399G>C
19g.17816872C>TCA506002133INSL3c.378G>A (p.Leu126=)
c.473G>A (p.Ter158=)
c.399G>A
19g.17816873A>CCA404760582INSL3c.377T>G (p.Leu126Arg)
c.472T>G (p.Ter158Gly)
c.398T>G
19g.17816873A>GCA404760583INSL3c.377T>C (p.Leu126Pro)
c.472T>C (p.Ter158Arg)
c.398T>C
19g.17816873A>TCA404760584INSL3c.377T>A (p.Leu126Gln)
c.472T>A (p.Ter158Arg)
c.398T>A
19g.17816874G>ACA506002134INSL3c.376C>T (p.Leu126=)
c.471C>T (p.Cys157=)
c.397C>T
19g.17816874G>CCA404760585INSL3c.376C>G (p.Leu126Val)
c.471C>G (p.Cys157Trp)
c.397C>G
19g.17816874G>TCA404760586INSL3c.376C>A (p.Leu126Met)
c.471C>A (p.Cys157Ter)
c.397C>A
19g.17816875C>ACA404760587INSL3c.375G>T (p.Leu125=)
c.470G>T (p.Cys157Phe)
c.396G>T
 gnomAD v4
19g.17816875C>GCA404760588INSL3c.375G>C (p.Leu125=)
c.470G>C (p.Cys157Ser)
c.396G>C
19g.17816875C>TCA404760589INSL3c.375G>A (p.Leu125=)
c.470G>A (p.Cys157Tyr)
c.396G>A
19g.17816876A>CCA404760590INSL3c.374T>G (p.Leu125Arg)
c.469T>G (p.Cys157Gly)
c.395T>G
19g.17816876A>GCA404760591INSL3c.374T>C (p.Leu125Pro)
c.469T>C (p.Cys157Arg)
c.395T>C
19g.17816876A>TCA404760592INSL3c.374T>A (p.Leu125Gln)
c.469T>A (p.Cys157Ser)
c.395T>A
19g.17816877G>ACA506002139INSL3c.373C>T (p.Leu125=)
c.468C>T (p.Thr156=)
c.394C>T
19g.17816877G>CCA404760594INSL3c.373C>G (p.Leu125Val)
c.468C>G (p.Thr156=)
c.394C>G
19g.17816877G>TCA404760593INSL3c.373C>A (p.Leu125Met)
c.468C>A (p.Thr156=)
c.394C>A
19g.17816878G>ACA404760595INSL3c.372C>T (p.Asp124=)
c.467C>T (p.Thr156Ile)
c.393C>T
19g.17816878G>CCA9301222INSL3c.372C>G (p.Asp124Glu)
c.467C>G (p.Thr156Ser)
c.393C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17816878G=CA2326044684INSL3c.372C= (p.Asp124=)
c.467C= (p.Thr156=)
c.393C=
19g.17816878G>TCA9301223INSL3c.372C>A (p.Asp124Glu)
c.467C>A (p.Thr156Asn)
c.393C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17816879T>ACA404760596INSL3c.371A>T (p.Asp124Val)
c.466A>T (p.Thr156Ser)
c.392A>T
19g.17816879T>CCA404760598INSL3c.371A>G (p.Asp124Gly)
c.466A>G (p.Thr156Ala)
c.392A>G
 gnomAD v4
19g.17816879T>GCA404760597INSL3c.371A>C (p.Asp124Ala)
c.466A>C (p.Thr156Pro)
c.392A>C
19g.17816880C>ACA404760599INSL3c.370G>T (p.Asp124Tyr)
c.465G>T (p.Lys155Asn)
c.391G>T
 COSMIC
19g.17816880C>GCA404760600INSL3c.370G>C (p.Asp124His)
c.465G>C (p.Lys155Asn)
c.391G>C
19g.17816880C>TCA404760601INSL3c.370G>A (p.Asp124Asn)
c.465G>A (p.Lys155=)
c.391G>A
19g.17816881T>ACA404760602INSL3c.369A>T (p.Gln123His)
c.464A>T (p.Lys155Met)
c.390A>T
19g.17816881T>CCA404760603INSL3c.369A>G (p.Gln123=)
c.464A>G (p.Lys155Arg)
c.390A>G
19g.17816881T>GCA404760604INSL3c.369A>C (p.Gln123His)
c.464A>C (p.Lys155Thr)
c.390A>C
19g.17816882T>ACA404760605INSL3c.368A>T (p.Gln123Leu)
c.463A>T (p.Lys155Ter)
c.389A>T
19g.17816882T>CCA404760606INSL3c.368A>G (p.Gln123Arg)
c.463A>G (p.Lys155Glu)
c.389A>G
19g.17816882T>GCA404760607INSL3c.368A>C (p.Gln123Pro)
c.463A>C (p.Lys155Gln)
c.389A>C
19g.17816883G>ACA404760608INSL3c.367C>T (p.Gln123Ter)
c.462C>T (p.Asn154=)
c.388C>T
 gnomAD v4
19g.17816883G>CCA404760609INSL3c.367C>G (p.Gln123Glu)
c.462C>G (p.Asn154Lys)
c.388C>G
19g.17816883G>TCA404760610INSL3c.367C>A (p.Gln123Lys)
c.462C>A (p.Asn154Lys)
c.388C>A
19g.17816884T>ACA404760611INSL3c.366A>T (p.Gln122His)
c.461A>T (p.Asn154Ile)
c.387A>T
19g.17816884T>CCA306110477INSL3c.366A>G (p.Gln122=)
c.461A>G (p.Asn154Ser)
c.387A>G
 dbSNP gnomAD v2 gnomAD v4
19g.17816884T>GCA404760612INSL3c.366A>C (p.Gln122His)
c.461A>C (p.Asn154Thr)
c.387A>C
19g.17816884T=CA2326044685INSL3c.366A= (p.Gln122=)
c.461A= (p.Asn154=)
c.387A=
19g.17816885T>ACA404760613INSL3c.365A>T (p.Gln122Leu)
c.460A>T (p.Asn154Tyr)
c.386A>T
19g.17816885T>CCA404760614INSL3c.365A>G (p.Gln122Arg)
c.460A>G (p.Asn154Asp)
c.386A>G
19g.17816885T>GCA404760615INSL3c.365A>C (p.Gln122Pro)
c.460A>C (p.Asn154His)
c.386A>C
19g.17816886G>ACA9301224INSL3c.364C>T (p.Gln122Ter)
c.459C>T (p.Pro153=)
c.385C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17816886G>CCA404760616INSL3c.364C>G (p.Gln122Glu)
c.459C>G (p.Pro153=)
c.385C>G
 dbSNP gnomAD v2 gnomAD v4
19g.17816886G=CA2326044686INSL3c.364C= (p.Gln122=)
c.459C= (p.Pro153=)
c.385C=
19g.17816886G>TCA404760617INSL3c.364C>A (p.Gln122Lys)
c.459C>A (p.Pro153=)
c.385C>A
 COSMIC
19g.17816887G>ACA306110479INSL3c.363C>T (p.Thr121=)
c.458C>T (p.Pro153Leu)
c.384C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17816887G>CCA404760618INSL3c.363C>G (p.Thr121=)
c.458C>G (p.Pro153Arg)
c.384C>G
19g.17816887G=CA2326044687INSL3c.363C= (p.Thr121=)
c.458C= (p.Pro153=)
c.384C=
19g.17816887G>TCA404760619INSL3c.363C>A (p.Thr121=)
c.458C>A (p.Pro153His)
c.384C>A
19g.17816888G>ACA404760622INSL3c.362C>T (p.Thr121Ile)
c.457C>T (p.Pro153Ser)
c.383C>T
19g.17816888G>CCA404760621INSL3c.362C>G (p.Thr121Ser)
c.457C>G (p.Pro153Ala)
c.383C>G
19g.17816888G>TCA404760620INSL3c.362C>A (p.Thr121Asn)
c.457C>A (p.Pro153Thr)
c.383C>A
19g.17816889T>ACA404760623INSL3c.361A>T (p.Thr121Ser)
c.456A>T (p.Val152=)
c.382A>T
19g.17816889T>CCA404760624INSL3c.361A>G (p.Thr121Ala)
c.456A>G (p.Val152=)
c.382A>G
19g.17816889T>GCA404760625INSL3c.361A>C (p.Thr121Pro)
c.456A>C (p.Val152=)
c.382A>C
19g.17816890A=CA2326044688INSL3c.360T= (p.Cys120=)
c.455T= (p.Val152=)
c.381T=
19g.17816890A>CCA404760626INSL3c.360T>G (p.Cys120Trp)
c.455T>G (p.Val152Gly)
c.381T>G
 dbSNP
19g.17816890A>GCA404760627INSL3c.360T>C (p.Cys120=)
c.455T>C (p.Val152Ala)
c.381T>C
19g.17816890A>TCA404760628INSL3c.360T>A (p.Cys120Ter)
c.455T>A (p.Val152Glu)
c.381T>A
19g.17816891C>ACA404760629INSL3c.359G>T (p.Cys120Phe)
c.454G>T (p.Val152Leu)
c.380G>T
19g.17816891C=CA2326044689INSL3c.359G= (p.Cys120=)
c.454G= (p.Val152=)
c.380G=
19g.17816891C>GCA404760630INSL3c.359G>C (p.Cys120Ser)
c.454G>C (p.Val152Leu)
c.380G>C
19g.17816891C>TCA404760631INSL3c.359G>A (p.Cys120Tyr)
c.454G>A (p.Val152Ile)
c.380G>A
 dbSNP gnomAD v3 gnomAD v4
19g.17816892A>CCA404760632INSL3c.358T>G (p.Cys120Gly)
c.453T>G (p.Ala151=)
c.379T>G
19g.17816892A>GCA404760633INSL3c.358T>C (p.Cys120Arg)
c.453T>C (p.Ala151=)
c.379T>C
19g.17816892A>TCA404760634INSL3c.358T>A (p.Cys120Ser)
c.453T>A (p.Ala151=)
c.379T>A
19g.17816893G>ACA404760637INSL3c.357C>T (p.Gly119=)
c.452C>T (p.Ala151Val)
c.378C>T
 gnomAD v4
19g.17816893G>CCA404760635INSL3c.357C>G (p.Gly119=)
c.452C>G (p.Ala151Gly)
c.378C>G
19g.17816893G>TCA404760636INSL3c.357C>A (p.Gly119=)
c.452C>A (p.Ala151Asp)
c.378C>A
19g.17816894C>ACA404760638INSL3c.356G>T (p.Gly119Val)
c.451G>T (p.Ala151Ser)
c.377G>T
19g.17816894C>GCA404760639INSL3c.356G>C (p.Gly119Ala)
c.451G>C (p.Ala151Pro)
c.377G>C
19g.17816894C>TCA404760640INSL3c.356G>A (p.Gly119Asp)
c.451G>A (p.Ala151Thr)
c.377G>A
19g.17816895C>ACA404760641INSL3c.355G>T (p.Gly119Cys)
c.450G>T (p.Val150=)
c.376G>T
19g.17816895C>GCA404760642INSL3c.355G>C (p.Gly119Arg)
c.450G>C (p.Val150=)
c.376G>C
19g.17816895C>TCA404760643INSL3c.355G>A (p.Gly119Ser)
c.450G>A (p.Val150=)
c.376G>A
19g.17816896A>CCA404760644INSL3c.354T>G (p.Ser118Arg)
c.449T>G (p.Val150Gly)
c.375T>G
19g.17816896A>GCA404760645INSL3c.354T>C (p.Ser118=)
c.449T>C (p.Val150Ala)
c.375T>C
 gnomAD v4
19g.17816896A>TCA404760646INSL3c.354T>A (p.Ser118Arg)
c.449T>A (p.Val150Glu)
c.375T>A
19g.17816897C>ACA404760647INSL3c.353G>T (p.Ser118Ile)
c.448G>T (p.Val150Leu)
c.374G>T
19g.17816897C=CA2326044690INSL3c.353G= (p.Ser118=)
c.448G= (p.Val150=)
c.374G=
19g.17816897C>GCA404760648INSL3c.353G>C (p.Ser118Thr)
c.448G>C (p.Val150Leu)
c.374G>C
19g.17816897C>TCA404760649INSL3c.353G>A (p.Ser118Asn)
c.448G>A (p.Val150Met)
c.374G>A
 dbSNP gnomAD v2 gnomAD v4
19g.17816898T>ACA404760651INSL3c.352A>T (p.Ser118Cys)
c.447A>T (p.Ser149=)
c.373A>T
 gnomAD v4
19g.17816898T>CCA404760652INSL3c.352A>G (p.Ser118Gly)
c.447A>G (p.Ser149=)
c.373A>G
19g.17816898T>GCA404760650INSL3c.352A>C (p.Ser118Arg)
c.447A>C (p.Ser149=)
c.373A>C
19g.17816899G>ACA404760653INSL3c.351C>T (p.Leu117=)
c.446C>T (p.Ser149Leu)
c.372C>T
 COSMIC
19g.17816899G>CCA404760654INSL3c.351C>G (p.Leu117=)
c.446C>G (p.Ser149Ter)
c.372C>G
19g.17816899G>TCA404760655INSL3c.351C>A (p.Leu117=)
c.446C>A (p.Ser149Ter)
c.372C>A
19g.17816900A>CCA404760656INSL3c.350T>G (p.Leu117Arg)
c.445T>G (p.Ser149Ala)
c.371T>G
19g.17816900A>GCA404760657INSL3c.350T>C (p.Leu117Pro)
c.445T>C (p.Ser149Pro)
c.371T>C
19g.17816900A>TCA404760658INSL3c.350T>A (p.Leu117His)
c.445T>A (p.Ser149Thr)
c.371T>A
19g.17816901G>ACA404760661INSL3c.349C>T (p.Leu117Phe)
c.444C>T (p.Ala148=)
c.370C>T
 dbSNP gnomAD v2 gnomAD v4
19g.17816901G>CCA404760659INSL3c.349C>G (p.Leu117Val)
c.444C>G (p.Ala148=)
c.370C>G
19g.17816901G=CA2326044691INSL3c.349C= (p.Leu117=)
c.444C= (p.Ala148=)
c.370C=
19g.17816901G>TCA404760660INSL3c.349C>A (p.Leu117Ile)
c.444C>A (p.Ala148=)
c.370C>A
19g.17816901_17816904delinsGGCACA2326044692INSL3c.346_349delinsTGCC (p.Cys116=)
c.441_444delinsTGCC (p.Ala147=)
c.367_370delinsTGCC
19g.17816902G>ACA404760662INSL3c.348C>T (p.Cys116=)
c.443C>T (p.Ala148Val)
c.369C>T
19g.17816902G>CCA404760663INSL3c.348C>G (p.Cys116Trp)
c.443C>G (p.Ala148Gly)
c.369C>G
19g.17816902G>TCA404760664INSL3c.348C>A (p.Cys116Ter)
c.443C>A (p.Ala148Asp)
c.369C>A
19g.17816906_17816908delCA783867500INSL3c.346_348del (p.Cys116del)
c.441_443del (p.Ala148del)
c.367_369del
 dbSNP
19g.17816903C>ACA404760665INSL3c.347G>T (p.Cys116Phe)
c.442G>T (p.Ala148Ser)
c.368G>T
 gnomAD v4
19g.17816903C>GCA404760666INSL3c.347G>C (p.Cys116Ser)
c.442G>C (p.Ala148Pro)
c.368G>C
19g.17816903C>TCA404760667INSL3c.347G>A (p.Cys116Tyr)
c.442G>A (p.Ala148Thr)
c.368G>A
19g.17816904A>CCA404760668INSL3c.346T>G (p.Cys116Gly)
c.441T>G (p.Ala147=)
c.367T>G
19g.17816904A>GCA404760670INSL3c.346T>C (p.Cys116Arg)
c.441T>C (p.Ala147=)
c.367T>C
19g.17816904A>TCA404760669INSL3c.346T>A (p.Cys116Ser)
c.441T>A (p.Ala147=)
c.367T>A
19g.17816905G>ACA404760671INSL3c.345C>T (p.Cys115=)
c.440C>T (p.Ala147Val)
c.366C>T
19g.17816905G>CCA404760672INSL3c.345C>G (p.Cys115Trp)
c.440C>G (p.Ala147Gly)
c.366C>G
19g.17816905G>TCA404760673INSL3c.345C>A (p.Cys115Ter)
c.440C>A (p.Ala147Asp)
c.366C>A
19g.17816906C>ACA404760674INSL3c.344G>T (p.Cys115Phe)
c.439G>T (p.Ala147Ser)
c.365G>T
 dbSNP gnomAD v2 gnomAD v4
19g.17816906C=CA2326044693INSL3c.344G= (p.Cys115=)
c.439G= (p.Ala147=)
c.365G=
19g.17816906C>GCA404760675INSL3c.344G>C (p.Cys115Ser)
c.439G>C (p.Ala147Pro)
c.365G>C
19g.17816906C>TCA404760676INSL3c.344G>A (p.Cys115Tyr)
c.439G>A (p.Ala147Thr)
c.365G>A
19g.17816907A=CA2326044694INSL3c.343T= (p.Cys115=)
c.438T= (p.Thr146=)
c.364T=
19g.17816907A>CCA404760677INSL3c.343T>G (p.Cys115Gly)
c.438T>G (p.Thr146=)
c.364T>G
 dbSNP gnomAD v4
19g.17816907A>GCA404760678INSL3c.343T>C (p.Cys115Arg)
c.438T>C (p.Thr146=)
c.364T>C
19g.17816907A>TCA404760679INSL3c.343T>A (p.Cys115Ser)
c.438T>A (p.Thr146=)
c.364T>A
19g.17816908G>ACA404760680INSL3c.342C>T (p.Tyr114=)
c.437C>T (p.Thr146Ile)
c.363C>T
19g.17816908G>CCA404760681INSL3c.342C>G (p.Tyr114Ter)
c.437C>G (p.Thr146Ser)
c.363C>G
19g.17816908G>TCA404760682INSL3c.342C>A (p.Tyr114Ter)
c.437C>A (p.Thr146Asn)
c.363C>A
19g.17816909T>ACA404760683INSL3c.341A>T (p.Tyr114Phe)
c.436A>T (p.Thr146Ser)
c.362A>T
19g.17816909T>CCA404760685INSL3c.341A>G (p.Tyr114Cys)
c.436A>G (p.Thr146Ala)
c.362A>G
19g.17816909T>GCA404760684INSL3c.341A>C (p.Tyr114Ser)
c.436A>C (p.Thr146Pro)
c.362A>C
19g.17816910A>CCA404760686INSL3c.340T>G (p.Tyr114Asp)
c.435T>G (p.Ala145=)
c.361T>G
19g.17816910A>GCA404760687INSL3c.340T>C (p.Tyr114His)
c.435T>C (p.Ala145=)
c.361T>C
 gnomAD v4
19g.17816910A>TCA404760688INSL3c.340T>A (p.Tyr114Asn)
c.435T>A (p.Ala145=)
c.361T>A
19g.17816911G>ACA404760689INSL3c.339C>T (p.Arg113=)
c.434C>T (p.Ala145Val)
c.360C>T
19g.17816911G>CCA404760690INSL3c.339C>G (p.Arg113=)
c.434C>G (p.Ala145Gly)
c.360C>G
 gnomAD v4
19g.17816911G>TCA404760691INSL3c.339C>A (p.Arg113=)
c.434C>A (p.Ala145Asp)
c.360C>A
19g.17816912C>ACA9301225INSL3c.338G>T (p.Arg113Leu)
c.433G>T (p.Ala145Ser)
c.359G>T
 dbSNP ExAC gnomAD v3 gnomAD v4
19g.17816912C=CA2326044695INSL3c.338G= (p.Arg113=)
c.433G= (p.Ala145=)
c.359G=
19g.17816912C>GCA404760692INSL3c.338G>C (p.Arg113Pro)
c.433G>C (p.Ala145Pro)
c.359G>C
19g.17816912C>TCA404760693INSL3c.338G>A (p.Arg113His)
c.433G>A (p.Ala145Thr)
c.359G>A
 dbSNP gnomAD v2 gnomAD v4
19g.17816913G>ACA9301226INSL3c.337C>T (p.Arg113Cys)
c.432C>T (p.His144=)
c.358C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17816913G>CCA404760694INSL3c.337C>G (p.Arg113Gly)
c.432C>G (p.His144Gln)
c.358C>G
19g.17816913G=CA2326044696INSL3c.337C= (p.Arg113=)
c.432C= (p.His144=)
c.358C=
19g.17816913G>TCA404760695INSL3c.337C>A (p.Arg113Ser)
c.432C>A (p.His144Gln)
c.358C>A
19g.17816913_17816931delinsGTGCAGGGTTGGTGGCAGCCA2326044697INSL3c.319_337delinsGCTGCCACCAACCCTGCAC (p.Ala107=)
c.414_432delinsGCTGCCACCAACCCTGCAC (p.Gln138=)
c.340_358delinsGCTGCCACCAACCCTGCAC
19g.17816914T>ACA404760698INSL3c.336A>T (p.Ala112=)
c.431A>T (p.His144Leu)
c.357A>T
 gnomAD v4
19g.17816914T>CCA404760697INSL3c.336A>G (p.Ala112=)
c.431A>G (p.His144Arg)
c.357A>G
 gnomAD v4
19g.17816914T>GCA404760696INSL3c.336A>C (p.Ala112=)
c.431A>C (p.His144Pro)
c.357A>C
19g.17816918_17816935delCA9301227INSL3c.319_336del (p.Ala107_Ala112del)
c.414_431del (p.Gln138_Leu143del)
c.340_357del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17816915G>ACA404760699INSL3c.335C>T (p.Ala112Val)
c.430C>T (p.His144Tyr)
c.356C>T
 gnomAD v4
19g.17816915G>CCA404760700INSL3c.335C>G (p.Ala112Gly)
c.430C>G (p.His144Asp)
c.356C>G
19g.17816915G>TCA404760701INSL3c.335C>A (p.Ala112Glu)
c.430C>A (p.His144Asn)
c.356C>A
19g.17816916C>ACA404760702INSL3c.334G>T (p.Ala112Ser)
c.429G>T (p.Leu143=)
c.355G>T
19g.17816916C>GCA404760703INSL3c.334G>C (p.Ala112Pro)
c.429G>C (p.Leu143=)
c.355G>C
 gnomAD v4
19g.17816916C>TCA404760704INSL3c.334G>A (p.Ala112Thr)
c.429G>A (p.Leu143=)
c.355G>A
19g.17816916_17816917delinsCACA2326044698INSL3c.333_334delinsTG (p.Pro111=)
c.428_429delinsTG (p.Leu143=)
c.354_355delinsTG
19g.17816917delCA632135973INSL3c.333del (p.Ala112HisfsTer15)
c.428del (p.Leu143ArgfsTer?)
c.354del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17816917A=CA2326044699INSL3c.333T= (p.Pro111=)
c.428T= (p.Leu143=)
c.354T=
19g.17816917A>CCA404760705INSL3c.333T>G (p.Pro111=)
c.428T>G (p.Leu143Arg)
c.354T>G
19g.17816917A>GCA9301228INSL3c.333T>C (p.Pro111=)
c.428T>C (p.Leu143Pro)
c.354T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17816917A>TCA9301229INSL3c.333T>A (p.Pro111=)
c.428T>A (p.Leu143Gln)
c.354T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17816918G>ACA404760706INSL3c.332C>T (p.Pro111Leu)
c.427C>T (p.Leu143=)
c.353C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.17816918G>CCA404760707INSL3c.332C>G (p.Pro111Arg)
c.427C>G (p.Leu143Val)
c.353C>G
 dbSNP
19g.17816918G=CA2326044700INSL3c.332C= (p.Pro111=)
c.427C= (p.Leu143=)
c.353C=
19g.17816918G>TCA404760708INSL3c.332C>A (p.Pro111His)
c.427C>A (p.Leu143Met)
c.353C>A
19g.17816919G>ACA9301230INSL3c.331C>T (p.Pro111Ser)
c.426C>T (p.Thr142=)
c.352C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17816919G>CCA404760710INSL3c.331C>G (p.Pro111Ala)
c.426C>G (p.Thr142=)
c.352C>G
19g.17816919G=CA2326044701INSL3c.331C= (p.Pro111=)
c.426C= (p.Thr142=)
c.352C=
19g.17816919G>TCA404760709INSL3c.331C>A (p.Pro111Thr)
c.426C>A (p.Thr142=)
c.352C>A
 gnomAD v4
19g.17816920G>ACA404760711INSL3c.330C>T (p.Asn110=)
c.425C>T (p.Thr142Ile)
c.351C>T
 dbSNP gnomAD v2 gnomAD v4
19g.17816920G>CCA210727INSL3c.330C>G (p.Asn110Lys)
c.425C>G (p.Thr142Ser)
c.351C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.17816920G=CA2326044702INSL3c.330C= (p.Asn110=)
c.425C= (p.Thr142=)
c.351C=
19g.17816920G>TCA404760712INSL3c.330C>A (p.Asn110Lys)
c.425C>A (p.Thr142Asn)
c.351C>A
19g.17816921T>ACA404760713INSL3c.329A>T (p.Asn110Ile)
c.424A>T (p.Thr142Ser)
c.350A>T
19g.17816921T>CCA404760714INSL3c.329A>G (p.Asn110Ser)
c.424A>G (p.Thr142Ala)
c.350A>G
 dbSNP gnomAD v3 gnomAD v4
19g.17816921T>GCA404760715INSL3c.329A>C (p.Asn110Thr)
c.424A>C (p.Thr142Pro)
c.350A>C
 gnomAD v4
19g.17816921T=CA2326044703INSL3c.329A= (p.Asn110=)
c.424A= (p.Thr142=)
c.350A=
19g.17816922T>ACA404760718INSL3c.328A>T (p.Asn110Tyr)
c.423A>T (p.Pro141=)
c.349A>T
19g.17816922T>CCA404760716INSL3c.328A>G (p.Asn110Asp)
c.423A>G (p.Pro141=)
c.349A>G
19g.17816922T>GCA404760717INSL3c.328A>C (p.Asn110His)
c.423A>C (p.Pro141=)
c.349A>C
19g.17816923G>ACA404760719INSL3c.327C>T (p.Thr109=)
c.422C>T (p.Pro141Leu)
c.348C>T
19g.17816923G>CCA404760720INSL3c.327C>G (p.Thr109=)
c.422C>G (p.Pro141Arg)
c.348C>G
19g.17816923G>TCA404760721INSL3c.327C>A (p.Thr109=)
c.422C>A (p.Pro141Gln)
c.348C>A
19g.17816924G>ACA404760722INSL3c.326C>T (p.Thr109Ile)
c.421C>T (p.Pro141Ser)
c.347C>T
19g.17816924G>CCA404760723INSL3c.326C>G (p.Thr109Ser)
c.421C>G (p.Pro141Ala)
c.347C>G
 gnomAD v4
19g.17816924G>TCA404760724INSL3c.326C>A (p.Thr109Asn)
c.421C>A (p.Pro141Thr)
c.347C>A
19g.17816925T>ACA404760725INSL3c.325A>T (p.Thr109Ser)
c.420A>T (p.Pro140=)
c.346A>T
19g.17816925T>CCA404760727INSL3c.325A>G (p.Thr109Ala)
c.420A>G (p.Pro140=)
c.346A>G
19g.17816925T>GCA404760726INSL3c.325A>C (p.Thr109Pro)
c.420A>C (p.Pro140=)
c.346A>C
19g.17816926G>ACA404760728INSL3c.324C>T (p.Ala108=)
c.419C>T (p.Pro140Leu)
c.345C>T
 gnomAD v4
19g.17816926G>CCA404760729INSL3c.324C>G (p.Ala108=)
c.419C>G (p.Pro140Arg)
c.345C>G
19g.17816926G>TCA404760730INSL3c.324C>A (p.Ala108=)
c.419C>A (p.Pro140Gln)
c.345C>A
19g.17816927G>ACA404760731INSL3c.323C>T (p.Ala108Val)
c.418C>T (p.Pro140Ser)
c.344C>T
19g.17816927G>CCA404760732INSL3c.323C>G (p.Ala108Gly)
c.418C>G (p.Pro140Ala)
c.344C>G
19g.17816927G>TCA404760733INSL3c.323C>A (p.Ala108Asp)
c.418C>A (p.Pro140Thr)
c.344C>A
19g.17816928C>ACA404760734INSL3c.322G>T (p.Ala108Ser)
c.417G>T (p.Leu139=)
c.343G>T
19g.17816928C>GCA404760735INSL3c.322G>C (p.Ala108Pro)
c.417G>C (p.Leu139=)
c.343G>C
19g.17816928C>TCA404760736INSL3c.322G>A (p.Ala108Thr)
c.417G>A (p.Leu139=)
c.343G>A
19g.17816929A>CCA404760737INSL3c.321T>G (p.Ala107=)
c.416T>G (p.Leu139Arg)
c.342T>G
19g.17816929A>GCA404760738INSL3c.321T>C (p.Ala107=)
c.416T>C (p.Leu139Pro)
c.342T>C
19g.17816929A>TCA404760739INSL3c.321T>A (p.Ala107=)
c.416T>A (p.Leu139Gln)
c.342T>A
19g.17816930G>ACA404760742INSL3c.320C>T (p.Ala107Val)
c.415C>T (p.Leu139=)
c.341C>T
19g.17816930G>CCA404760740INSL3c.320C>G (p.Ala107Gly)
c.415C>G (p.Leu139Val)
c.341C>G
19g.17816930G>TCA404760741INSL3c.320C>A (p.Ala107Asp)
c.415C>A (p.Leu139Met)
c.341C>A
19g.17816931C>ACA404760743INSL3c.319G>T (p.Ala107Ser)
c.414G>T (p.Gln138His)
c.340G>T
19g.17816931C>GCA404760744INSL3c.319G>C (p.Ala107Pro)
c.414G>C (p.Gln138His)
c.340G>C
19g.17816931C>TCA404760745INSL3c.319G>A (p.Ala107Thr)
c.414G>A (p.Gln138=)
c.340G>A
 COSMIC
19g.17816932T>ACA404760746INSL3c.318A>T (p.Ala106=)
c.413A>T (p.Gln138Leu)
c.339A>T
19g.17816932T>CCA404760747INSL3c.318A>G (p.Ala106=)
c.413A>G (p.Gln138Arg)
c.339A>G
19g.17816932T>GCA404760748INSL3c.318A>C (p.Ala106=)
c.413A>C (p.Gln138Pro)
c.339A>C
19g.17816933G>ACA404760751INSL3c.317C>T (p.Ala106Val)
c.412C>T (p.Gln138Ter)
c.338C>T
 dbSNP gnomAD v2 gnomAD v4
19g.17816933G>CCA404760750INSL3c.317C>G (p.Ala106Gly)
c.412C>G (p.Gln138Glu)
c.338C>G
19g.17816933G=CA2326044704INSL3c.317C= (p.Ala106=)
c.412C= (p.Gln138=)
c.338C=
19g.17816933G>TCA404760749INSL3c.317C>A (p.Ala106Glu)
c.412C>A (p.Gln138Lys)
c.338C>A
 dbSNP COSMIC
19g.17816934C>ACA404760752INSL3c.316G>T (p.Ala106Ser)
c.411G>T (p.Val137=)
c.337G>T
19g.17816934C=CA2326044705INSL3c.316G= (p.Ala106=)
c.411G= (p.Val137=)
c.337G=
19g.17816934C>GCA404760753INSL3c.316G>C (p.Ala106Pro)
c.411G>C (p.Val137=)
c.337G>C
19g.17816934C>TCA404760754INSL3c.316G>A (p.Ala106Thr)
c.411G>A (p.Val137=)
c.337G>A
 dbSNP gnomAD v4
19g.17816935A>CCA404760755INSL3c.315T>G (p.Arg105=)
c.410T>G (p.Val137Gly)
c.336T>G
19g.17816935A>GCA404760756INSL3c.315T>C (p.Arg105=)
c.410T>C (p.Val137Ala)
c.336T>C
19g.17816935A>TCA404760757INSL3c.315T>A (p.Arg105=)
c.410T>A (p.Val137Glu)
c.336T>A
 gnomAD v4
19g.17816936C>ACA404760758INSL3c.314G>T (p.Arg105Leu)
c.409G>T (p.Val137Leu)
c.335G>T
19g.17816936C=CA2326044706INSL3c.314G= (p.Arg105=)
c.409G= (p.Val137=)
c.335G=
19g.17816936C>GCA306110527INSL3c.314G>C (p.Arg105Pro)
c.409G>C (p.Val137Leu)
c.335G>C
 dbSNP
19g.17816936C>TCA9301231INSL3c.314G>A (p.Arg105His)
c.409G>A (p.Val137Met)
c.335G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17816937G>ACA9301232INSL3c.313C>T (p.Arg105Cys)
c.408C>T (p.Thr136=)
c.334C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.17816937G>CCA404760759INSL3c.313C>G (p.Arg105Gly)
c.408C>G (p.Thr136=)
c.334C>G
 gnomAD v4
19g.17816937G=CA2326044707INSL3c.313C= (p.Arg105=)
c.408C= (p.Thr136=)
c.334C=
19g.17816937G>TCA404760760INSL3c.313C>A (p.Arg105Ser)
c.408C>A (p.Thr136=)
c.334C>A
19g.17816938G>ACA9301233INSL3c.312C>T (p.His104=)
c.407C>T (p.Thr136Ile)
c.333C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.17816938G>CCA404760761INSL3c.312C>G (p.His104Gln)
c.407C>G (p.Thr136Ser)
c.333C>G
19g.17816938G=CA2326044708INSL3c.312C= (p.His104=)
c.407C= (p.Thr136=)
c.333C=
19g.17816938G>TCA404760762INSL3c.312C>A (p.His104Gln)
c.407C>A (p.Thr136Asn)
c.333C>A
19g.17816939T>ACA404760763INSL3c.311A>T (p.His104Leu)
c.406A>T (p.Thr136Ser)
c.332A>T
19g.17816939T>CCA404760764INSL3c.311A>G (p.His104Arg)
c.406A>G (p.Thr136Ala)
c.332A>G
 dbSNP gnomAD v4
19g.17816939T>GCA404760765INSL3c.311A>C (p.His104Pro)
c.406A>C (p.Thr136Pro)
c.332A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.17816939T=CA2326044709INSL3c.311A= (p.His104=)
c.406A= (p.Thr136=)
c.332A=
19g.17816940G>ACA404760766INSL3c.310C>T (p.His104Tyr)
c.405C>T (p.Thr135=)
c.331C>T
19g.17816940G>CCA404760767INSL3c.310C>G (p.His104Asp)
c.405C>G (p.Thr135=)
c.331C>G
19g.17816940G>TCA404760768INSL3c.310C>A (p.His104Asn)
c.405C>A (p.Thr135=)
c.331C>A
19g.17816941G>ACA9301235INSL3c.309C>T (p.His103=)
c.404C>T (p.Thr135Ile)
c.330C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17816941G>CCA9301234INSL3c.309C>G (p.His103Gln)
c.404C>G (p.Thr135Ser)
c.330C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.17816941G=CA2326044710INSL3c.309C= (p.His103=)
c.404C= (p.Thr135=)
c.330C=
19g.17816941G>TCA404760769INSL3c.309C>A (p.His103Gln)
c.404C>A (p.Thr135Asn)
c.330C>A
19g.17816942T>ACA404760770INSL3c.308A>T (p.His103Leu)
c.403A>T (p.Thr135Ser)
c.329A>T
19g.17816942T>CCA404760771INSL3c.308A>G (p.His103Arg)
c.403A>G (p.Thr135Ala)
c.329A>G
 dbSNP
19g.17816942T>GCA404760772INSL3c.308A>C (p.His103Pro)
c.403A>C (p.Thr135Pro)
c.329A>C
19g.17816943G>ACA404760773INSL3c.307C>T (p.His103Tyr)
c.402C>T (p.Ala134=)
c.328C>T
19g.17816943G>CCA404760774INSL3c.307C>G (p.His103Asp)
c.402C>G (p.Ala134=)
c.328C>G
19g.17816943G>TCA404760775INSL3c.307C>A (p.His103Asn)
c.402C>A (p.Ala134=)
c.328C>A
 gnomAD v4
19g.17816944G>ACA404760778INSL3c.306C>T (p.Arg102=)
c.401C>T (p.Ala134Val)
c.327C>T
19g.17816944G>CCA404760777INSL3c.306C>G (p.Arg102=)
c.401C>G (p.Ala134Gly)
c.327C>G
19g.17816944G>TCA404760776INSL3c.306C>A (p.Arg102=)
c.401C>A (p.Ala134Asp)
c.327C>A
19g.17816945C>ACA404760779INSL3c.305G>T (p.Arg102Leu)
c.400G>T (p.Ala134Ser)
c.326G>T
19g.17816945C=CA2326044711INSL3c.305G= (p.Arg102=)
c.400G= (p.Ala134=)
c.326G=
19g.17816945C>GCA404760780INSL3c.305G>C (p.Arg102Pro)
c.400G>C (p.Ala134Pro)
c.326G>C
19g.17816945C>TCA210732INSL3c.305G>A (p.Arg102His)
c.400G>A (p.Ala134Thr)
c.326G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched