Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496505delCA2631209670TBC1D24c.357del (p.Cys120AlafsTer?)
n.539del
gnomAD v4
16g.2496505G>ACA493366733TBC1D24c.357G>A (p.Leu119=)
n.539G>A
16g.2496505G>CCA493366734TBC1D24c.357G>C (p.Leu119=)
n.539G>C
gnomAD v4
16g.2496505G=CA2202259830TBC1D24c.357G= (p.Leu119=)
n.539G=
16g.2496505G>TCA493366735TBC1D24c.357G>T (p.Leu119=)
n.539G>T
dbSNP
16g.2496506T>ACA394375645TBC1D24c.358T>A (p.Cys120Ser)
n.540T>A
16g.2496506T>CCA276809622TBC1D24c.358T>C (p.Cys120Arg)
n.540T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496506T>GCA394375647TBC1D24c.358T>G (p.Cys120Gly)
n.540T>G
16g.2496506T=CA2202259831TBC1D24c.358T= (p.Cys120=)
n.540T=
16g.2496507G>ACA394375651TBC1D24c.359G>A (p.Cys120Tyr)
n.541G>A
16g.2496507G>CCA394375652TBC1D24c.359G>C (p.Cys120Ser)
n.541G>C
16g.2496507G>TCA394375653TBC1D24c.359G>T (p.Cys120Phe)
n.541G>T
gnomAD v4
16g.2496508C>ACA7843983TBC1D24c.360C>A (p.Cys120Ter)
n.542C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496508C=CA2202259832TBC1D24c.360C= (p.Cys120=)
n.542C=
16g.2496508C>GCA394375656TBC1D24c.360C>G (p.Cys120Trp)
n.542C>G
16g.2496508C>TCA493366597TBC1D24c.360C>T (p.Cys120=)
n.542C>T
gnomAD v4
16g.2496509C>ACA394375658TBC1D24c.361C>A (p.Leu121Met)
n.543C>A
16g.2496509C=CA2202259833TBC1D24c.361C= (p.Leu121=)
n.543C=
16g.2496509C>GCA394375660TBC1D24c.361C>G (p.Leu121Val)
n.543C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496509C>TCA493366598TBC1D24c.361C>T (p.Leu121=)
n.543C>T
16g.2496510T>ACA394375662TBC1D24c.362T>A (p.Leu121Gln)
n.544T>A
16g.2496510T>CCA394375663TBC1D24c.362T>C (p.Leu121Pro)
n.544T>C
16g.2496510T>GCA394375665TBC1D24c.362T>G (p.Leu121Arg)
n.544T>G
16g.2496511G>ACA493366599TBC1D24c.363G>A (p.Leu121=)
n.545G>A
16g.2496511G>CCA493366600TBC1D24c.363G>C (p.Leu121=)
n.545G>C
16g.2496511G>TCA493366601TBC1D24c.363G>T (p.Leu121=)
n.545G>T
gnomAD v4
16g.2496512G>ACA394375671TBC1D24c.364G>A (p.Ala122Thr)
n.546G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496512G>CCA394375669TBC1D24c.364G>C (p.Ala122Pro)
n.546G>C
gnomAD v4
16g.2496512G=CA2202259834TBC1D24c.364G= (p.Ala122=)
n.546G=
16g.2496512G>TCA394375667TBC1D24c.364G>T (p.Ala122Ser)
n.546G>T
16g.2496513C>ACA394375673TBC1D24c.365C>A (p.Ala122Asp)
n.547C>A
gnomAD v4
16g.2496513C>GCA394375675TBC1D24c.365C>G (p.Ala122Gly)
n.547C>G
16g.2496513C>TCA394375676TBC1D24c.365C>T (p.Ala122Val)
n.547C>T
16g.2496514C>ACA493366605TBC1D24c.366C>A (p.Ala122=)
n.548C>A
16g.2496514C=CA2202259835TBC1D24c.366C= (p.Ala122=)
n.548C=
16g.2496514C>GCA493366606TBC1D24c.366C>G (p.Ala122=)
n.548C>G
16g.2496514C>TCA7843984TBC1D24c.366C>T (p.Ala122=)
n.548C>T
dbSNP ExAC gnomAD v4
16g.2496515A=CA2202259836TBC1D24c.367A= (p.Asn123=)
n.549A=
16g.2496515A>CCA394375680TBC1D24c.367A>C (p.Asn123His)
n.549A>C
16g.2496515A>GCA394375682TBC1D24c.367A>G (p.Asn123Asp)
n.549A>G
dbSNP gnomAD v2 gnomAD v4
16g.2496515A>TCA394375683TBC1D24c.367A>T (p.Asn123Tyr)
n.549A>T
16g.2496516A=CA2202259837TBC1D24c.368A= (p.Asn123=)
n.550A=
16g.2496516A>CCA394375685TBC1D24c.368A>C (p.Asn123Thr)
n.550A>C
16g.2496516A>GCA394375686TBC1D24c.368A>G (p.Asn123Ser)
n.550A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496516A>TCA394375688TBC1D24c.368A>T (p.Asn123Ile)
n.550A>T
16g.2496517C>ACA394375690TBC1D24c.369C>A (p.Asn123Lys)
n.551C>A
16g.2496517C>GCA394375692TBC1D24c.369C>G (p.Asn123Lys)
n.551C>G
16g.2496517C>TCA493366610TBC1D24c.369C>T (p.Asn123=)
n.551C>T
16g.2496518C>ACA394375696TBC1D24c.370C>A (p.Gln124Lys)
n.552C>A
ClinVar dbSNP
16g.2496518C>GCA394375698TBC1D24c.370C>G (p.Gln124Glu)
n.552C>G
16g.2496518C>TCA394375695TBC1D24c.370C>T (p.Gln124Ter)
n.552C>T
gnomAD v4
16g.2496519A>CCA394375705TBC1D24c.371A>C (p.Gln124Pro)
n.553A>C
16g.2496519A>GCA394375701TBC1D24c.371A>G (p.Gln124Arg)
n.553A>G
gnomAD v4
16g.2496519A>TCA394375703TBC1D24c.371A>T (p.Gln124Leu)
n.553A>T
16g.2496520G>ACA493366612TBC1D24c.372G>A (p.Gln124=)
n.554G>A
16g.2496520G>CCA394375706TBC1D24c.372G>C (p.Gln124His)
n.554G>C
16g.2496520G>TCA394375707TBC1D24c.372G>T (p.Gln124His)
n.554G>T
16g.2496521T>ACA394375709TBC1D24c.373T>A (p.Phe125Ile)
n.555T>A
16g.2496521T>CCA394375711TBC1D24c.373T>C (p.Phe125Leu)
n.555T>C
ClinVar dbSNP
16g.2496521T>GCA394375714TBC1D24c.373T>G (p.Phe125Val)
n.555T>G
16g.2496521T=CA2202259838TBC1D24c.373T= (p.Phe125=)
n.555T=
16g.2496522T>ACA394375716TBC1D24c.374T>A (p.Phe125Tyr)
n.556T>A
16g.2496522T>CCA394375718TBC1D24c.374T>C (p.Phe125Ser)
n.556T>C
16g.2496522T>GCA394375719TBC1D24c.374T>G (p.Phe125Cys)
n.556T>G
16g.2496523C>ACA394375721TBC1D24c.375C>A (p.Phe125Leu)
n.557C>A
16g.2496523C=CA2202259839TBC1D24c.375C= (p.Phe125=)
n.557C=
16g.2496523C>GCA394375723TBC1D24c.375C>G (p.Phe125Leu)
n.557C>G
16g.2496523C>TCA493366614TBC1D24c.375C>T (p.Phe125=)
n.557C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496524C>ACA394375729TBC1D24c.376C>A (p.Pro126Thr)
n.558C>A
16g.2496524C=CA2202259840TBC1D24c.376C= (p.Pro126=)
n.558C=
16g.2496524C>GCA394375727TBC1D24c.376C>G (p.Pro126Ala)
n.558C>G
16g.2496524C>TCA394375726TBC1D24c.376C>T (p.Pro126Ser)
n.558C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496525C>ACA394375732TBC1D24c.377C>A (p.Pro126His)
n.559C>A
16g.2496525C>GCA394375733TBC1D24c.377C>G (p.Pro126Arg)
n.559C>G
16g.2496525C>TCA394375735TBC1D24c.377C>T (p.Pro126Leu)
n.559C>T
COSMIC
16g.2496526C>ACA493366618TBC1D24c.378C>A (p.Pro126=)
n.560C>A
16g.2496526C=CA2202259841TBC1D24c.378C= (p.Pro126=)
n.560C=
16g.2496526C>GCA493366619TBC1D24c.378C>G (p.Pro126=)
n.560C>G
dbSNP
16g.2496526C>TCA7843985TBC1D24c.378C>T (p.Pro126=)
n.560C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496527G>ACA319020TBC1D24c.379G>A (p.Asp127Asn)
n.561G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496527G>CCA394375739TBC1D24c.379G>C (p.Asp127His)
n.561G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496527G=CA2202259842TBC1D24c.379G= (p.Asp127=)
n.561G=
16g.2496527G>TCA394375741TBC1D24c.379G>T (p.Asp127Tyr)
n.561G>T
16g.2496528A=CA2202259843TBC1D24c.380A= (p.Asp127=)
n.562A=
16g.2496528A>CCA394375742TBC1D24c.380A>C (p.Asp127Ala)
n.562A>C
16g.2496528A>GCA394375744TBC1D24c.380A>G (p.Asp127Gly)
n.562A>G
ClinVar dbSNP
16g.2496528A>TCA394375745TBC1D24c.380A>T (p.Asp127Val)
n.562A>T
16g.2496529C>ACA394375747TBC1D24c.381C>A (p.Asp127Glu)
n.563C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496529C=CA2202259844TBC1D24c.381C= (p.Asp127=)
n.563C=
16g.2496529C>GCA394375748TBC1D24c.381C>G (p.Asp127Glu)
n.563C>G
16g.2496529C>TCA493366623TBC1D24c.381C>T (p.Asp127=)
n.563C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496530A>CCA394375755TBC1D24c.382A>C (p.Ile128Leu)
n.564A>C
16g.2496530A>GCA394375753TBC1D24c.382A>G (p.Ile128Val)
n.564A>G
16g.2496530A>TCA394375751TBC1D24c.382A>T (p.Ile128Phe)
n.564A>T
16g.2496531T>ACA394375757TBC1D24c.383T>A (p.Ile128Asn)
n.565T>A
16g.2496531T>CCA394375759TBC1D24c.383T>C (p.Ile128Thr)
n.565T>C
16g.2496531T>GCA394375760TBC1D24c.383T>G (p.Ile128Ser)
n.565T>G
16g.2496531_2496534delinsTCTCCA2202259845TBC1D24c.383_386delinsTCTC (p.Ile128=)
n.565_568delinsTCTC
16g.2496532C>ACA493366625TBC1D24c.384C>A (p.Ile128=)
n.566C>A
16g.2496532C=CA2202259847TBC1D24c.384C= (p.Ile128=)
n.566C=
16g.2496532C>GCA7843987TBC1D24c.384C>G (p.Ile128Met)
n.566C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496532C>TCA7843986TBC1D24c.384C>T (p.Ile128=)
n.566C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496534_2496536delCA2202259846TBC1D24c.386_388del (p.Ser129del)
n.568_570del
dbSNP gnomAD v4
16g.2496533T>ACA394375763TBC1D24c.385T>A (p.Ser129Thr)
n.567T>A
16g.2496533T>CCA394375765TBC1D24c.385T>C (p.Ser129Pro)
n.567T>C
16g.2496533T>GCA394375767TBC1D24c.385T>G (p.Ser129Ala)
n.567T>G
16g.2496534C>ACA394375769TBC1D24c.386C>A (p.Ser129Tyr)
n.568C>A
16g.2496534C=CA2202259848TBC1D24c.386C= (p.Ser129=)
n.568C=
16g.2496534C>GCA7843988TBC1D24c.386C>G (p.Ser129Cys)
n.568C>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496534C>TCA394375772TBC1D24c.386C>T (p.Ser129Phe)
n.568C>T
COSMIC
16g.2496534_2496537delinsCCTTCA2202259849TBC1D24c.386_389delinsCCTT (p.Ser129=)
n.568_571delinsCCTT
16g.2496535C>ACA493366627TBC1D24c.387C>A (p.Ser129=)
n.569C>A
16g.2496535C=CA2202259850TBC1D24c.387C= (p.Ser129=)
n.569C=
16g.2496535C>GCA493366628TBC1D24c.387C>G (p.Ser129=)
n.569C>G
16g.2496535C>TCA7843989TBC1D24c.387C>T (p.Ser129=)
n.569C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496537_2496539delCA719315782TBC1D24c.389_391del (p.Phe130del)
n.571_573del
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496536T>ACA394375778TBC1D24c.388T>A (p.Phe130Ile)
n.570T>A
16g.2496536T>CCA394375779TBC1D24c.388T>C (p.Phe130Leu)
n.570T>C
16g.2496536T>GCA394375776TBC1D24c.388T>G (p.Phe130Val)
n.570T>G
16g.2496537T>ACA394375783TBC1D24c.389T>A (p.Phe130Tyr)
n.571T>A
16g.2496537T>CCA394375785TBC1D24c.389T>C (p.Phe130Ser)
n.571T>C
16g.2496537T>GCA394375787TBC1D24c.389T>G (p.Phe130Cys)
n.571T>G
16g.2496538C>ACA394375789TBC1D24c.390C>A (p.Phe130Leu)
n.572C>A
16g.2496538C=CA2202259851TBC1D24c.390C= (p.Phe130=)
n.572C=
16g.2496538C>GCA394375791TBC1D24c.390C>G (p.Phe130Leu)
n.572C>G
16g.2496538C>TCA493366630TBC1D24c.390C>T (p.Phe130=)
n.572C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496539T>ACA394375797TBC1D24c.391T>A (p.Cys131Ser)
n.573T>A
16g.2496539T>CCA394375793TBC1D24c.391T>C (p.Cys131Arg)
n.573T>C
16g.2496539T>GCA394375795TBC1D24c.391T>G (p.Cys131Gly)
n.573T>G
gnomAD v4
16g.2496540G>ACA394375799TBC1D24c.392G>A (p.Cys131Tyr)
n.574G>A
16g.2496540G>CCA394375801TBC1D24c.392G>C (p.Cys131Ser)
n.574G>C
16g.2496540G>TCA394375803TBC1D24c.392G>T (p.Cys131Phe)
n.574G>T
16g.2496541C>ACA394375805TBC1D24c.393C>A (p.Cys131Ter)
n.575C>A
16g.2496541C=CA2202259852TBC1D24c.393C= (p.Cys131=)
n.575C=
16g.2496541C>GCA7843991TBC1D24c.393C>G (p.Cys131Trp)
n.575C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496541C>TCA7843990TBC1D24c.393C>T (p.Cys131=)
n.575C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496542C>ACA394375810TBC1D24c.394C>A (p.Pro132Thr)
n.576C>A
16g.2496542C=CA2202259853TBC1D24c.394C= (p.Pro132=)
n.576C=
16g.2496542C>GCA394375811TBC1D24c.394C>G (p.Pro132Ala)
n.576C>G
16g.2496542C>TCA394375809TBC1D24c.394C>T (p.Pro132Ser)
n.576C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496543C>ACA394375816TBC1D24c.395C>A (p.Pro132His)
n.577C>A
16g.2496543C>GCA394375813TBC1D24c.395C>G (p.Pro132Arg)
n.577C>G
16g.2496543C>TCA394375814TBC1D24c.395C>T (p.Pro132Leu)
n.577C>T
gnomAD v4
16g.2496544C>ACA276809623TBC1D24c.396C>A (p.Pro132=)
n.578C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496544C=CA2202259854TBC1D24c.396C= (p.Pro132=)
n.578C=
16g.2496544C>GCA493366634TBC1D24c.396C>G (p.Pro132=)
n.578C>G
gnomAD v4
16g.2496544C>TCA493366633TBC1D24c.396C>T (p.Pro132=)
n.578C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496545G>ACA7843992TBC1D24c.397G>A (p.Ala133Thr)
n.579G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496545G>CCA394375823TBC1D24c.397G>C (p.Ala133Pro)
n.579G>C
16g.2496545G=CA2202259855TBC1D24c.397G= (p.Ala133=)
n.579G=
16g.2496545G>TCA394375825TBC1D24c.397G>T (p.Ala133Ser)
n.579G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496545dupCA2631209801TBC1D24c.397dup (p.Ala133GlyfsTer?)
n.579dup
gnomAD v4
16g.2496546C>ACA394375834TBC1D24c.398C>A (p.Ala133Asp)
n.580C>A
16g.2496546C=CA2202259856TBC1D24c.398C= (p.Ala133=)
n.580C=
16g.2496546C>GCA394375831TBC1D24c.398C>G (p.Ala133Gly)
n.580C>G
gnomAD v4
16g.2496546C>TCA394375833TBC1D24c.398C>T (p.Ala133Val)
n.580C>T
ClinVar dbSNP
16g.2496548delCA620709057TBC1D24c.400del (p.Leu134CysfsTer?)
n.582del
gnomAD v2
16g.2496547C>ACA493366637TBC1D24c.399C>A (p.Ala133=)
n.581C>A
16g.2496547C=CA2202259857TBC1D24c.399C= (p.Ala133=)
n.581C=
16g.2496547C>GCA493366639TBC1D24c.399C>G (p.Ala133=)
n.581C>G
16g.2496547C>TCA493366642TBC1D24c.399C>T (p.Ala133=)
n.581C>T
dbSNP
16g.2496547_2496548insTGGCA2805583189TBC1D24c.399_400insTGG (p.Ala133_Leu134insTrp)
n.581_582insTGG
16g.2496548C>ACA394375836TBC1D24c.400C>A (p.Leu134Met)
n.582C>A
16g.2496548C=CA2202259858TBC1D24c.400C= (p.Leu134=)
n.582C=
16g.2496548C>GCA394375839TBC1D24c.400C>G (p.Leu134Val)
n.582C>G
dbSNP
16g.2496548C>TCA493366643TBC1D24c.400C>T (p.Leu134=)
n.582C>T
ClinVar dbSNP gnomAD v4
16g.2496549T>ACA394375841TBC1D24c.401T>A (p.Leu134Gln)
n.583T>A
16g.2496549T>CCA394375844TBC1D24c.401T>C (p.Leu134Pro)
n.583T>C
ClinVar dbSNP gnomAD v4
16g.2496549T>GCA394375845TBC1D24c.401T>G (p.Leu134Arg)
n.583T>G
16g.2496549T=CA2202259859TBC1D24c.401T= (p.Leu134=)
n.583T=
16g.2496549_2496550insAATTTTTTTTTTTTTTTTTGAGATCA2805583190TBC1D24c.401_402insAATTTTTTTTTTTTTTTTTGAGAT (p.Leu134_Pro135insIlePhePhePhePhePheGluMet)
n.583_584insAATTTTTTTTTTTTTTTTTGAGAT
16g.2496550G>ACA493366647TBC1D24c.402G>A (p.Leu134=)
n.584G>A
16g.2496550G>CCA493366649TBC1D24c.402G>C (p.Leu134=)
n.584G>C
gnomAD v4
16g.2496550G>TCA493366648TBC1D24c.402G>T (p.Leu134=)
n.584G>T
gnomAD v4
16g.2496551C>ACA394375848TBC1D24c.403C>A (p.Pro135Thr)
n.585C>A
16g.2496551C>GCA394375852TBC1D24c.403C>G (p.Pro135Ala)
n.585C>G
16g.2496551C>TCA394375850TBC1D24c.403C>T (p.Pro135Ser)
n.585C>T
gnomAD v4
16g.2496552delCA2580091033TBC1D24c.404del (p.Pro135ArgfsTer?)
n.586del
ClinVar
16g.2496552C>ACA394375854TBC1D24c.404C>A (p.Pro135Gln)
n.586C>A
16g.2496552C=CA2202259860TBC1D24c.404C= (p.Pro135=)
n.586C=
16g.2496552C>GCA394375856TBC1D24c.404C>G (p.Pro135Arg)
n.586C>G
16g.2496552C>TCA16044430TBC1D24c.404C>T (p.Pro135Leu)
n.586C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496553G>ACA7843993TBC1D24c.405G>A (p.Pro135=)
n.587G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496553G>CCA493366653TBC1D24c.405G>C (p.Pro135=)
n.587G>C
16g.2496553G=CA2202259861TBC1D24c.405G= (p.Pro135=)
n.587G=
16g.2496553G>TCA493366654TBC1D24c.405G>T (p.Pro135=)
n.587G>T
gnomAD v4
16g.2496554G>ACA394375862TBC1D24c.406G>A (p.Ala136Thr)
n.588G>A
16g.2496554G>CCA394375863TBC1D24c.406G>C (p.Ala136Pro)
n.588G>C
16g.2496554G=CA2202259862TBC1D24c.406G= (p.Ala136=)
n.588G=
16g.2496554G>TCA394375865TBC1D24c.406G>T (p.Ala136Ser)
n.588G>T
dbSNP gnomAD v4
16g.2496555C>ACA394375868TBC1D24c.407C>A (p.Ala136Asp)
n.589C>A
16g.2496555C>GCA394375870TBC1D24c.407C>G (p.Ala136Gly)
n.589C>G
16g.2496555C>TCA394375872TBC1D24c.407C>T (p.Ala136Val)
n.589C>T
16g.2496556C>ACA493366656TBC1D24c.408C>A (p.Ala136=)
n.590C>A
16g.2496556C=CA2202259863TBC1D24c.408C= (p.Ala136=)
n.590C=
16g.2496556C>GCA493366657TBC1D24c.408C>G (p.Ala136=)
n.590C>G
gnomAD v4
16g.2496556C>TCA7843994TBC1D24c.408C>T (p.Ala136=)
n.590C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496557G>ACA7843995TBC1D24c.409G>A (p.Val137Met)
n.591G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496557G>CCA394375878TBC1D24c.409G>C (p.Val137Leu)
n.591G>C
16g.2496557G=CA2202259864TBC1D24c.409G= (p.Val137=)
n.591G=
16g.2496557G>TCA394375876TBC1D24c.409G>T (p.Val137Leu)
n.591G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496558T>ACA394375886TBC1D24c.410T>A (p.Val137Glu)
n.592T>A
16g.2496558T>CCA394375882TBC1D24c.410T>C (p.Val137Ala)
n.592T>C
16g.2496558T>GCA394375884TBC1D24c.410T>G (p.Val137Gly)
n.592T>G
16g.2496559G>ACA493366658TBC1D24c.411G>A (p.Val137=)
n.593G>A
16g.2496559G>CCA493366659TBC1D24c.411G>C (p.Val137=)
n.593G>C
16g.2496559G>TCA493366660TBC1D24c.411G>T (p.Val137=)
n.593G>T
gnomAD v4
16g.2496560G>ACA394375887TBC1D24c.412G>A (p.Val138Met)
n.594G>A
dbSNP gnomAD v2
16g.2496560G>CCA394375889TBC1D24c.412G>C (p.Val138Leu)
n.594G>C
gnomAD v4
16g.2496560G=CA2202259865TBC1D24c.412G= (p.Val138=)
n.594G=
16g.2496560G>TCA394375892TBC1D24c.412G>T (p.Val138Leu)
n.594G>T
16g.2496561T>ACA394375895TBC1D24c.413T>A (p.Val138Glu)
n.595T>A
16g.2496561T>CCA394375897TBC1D24c.413T>C (p.Val138Ala)
n.595T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496561T>GCA394375898TBC1D24c.413T>G (p.Val138Gly)
n.595T>G
16g.2496561T=CA2202259866TBC1D24c.413T= (p.Val138=)
n.595T=
16g.2496562G>ACA276809624TBC1D24c.414G>A (p.Val138=)
n.596G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496562G>CCA493366665TBC1D24c.414G>C (p.Val138=)
n.596G>C
16g.2496562G=CA2202259867TBC1D24c.414G= (p.Val138=)
n.596G=
16g.2496562G>TCA493366666TBC1D24c.414G>T (p.Val138=)
n.596G>T
gnomAD v4
16g.2496563G>ACA7843996TBC1D24c.415G>A (p.Ala139Thr)
n.597G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496563G>CCA394375902TBC1D24c.415G>C (p.Ala139Pro)
n.597G>C
16g.2496563G=CA2202259868TBC1D24c.415G= (p.Ala139=)
n.597G=
16g.2496563G>TCA394375904TBC1D24c.415G>T (p.Ala139Ser)
n.597G>T
dbSNP gnomAD v3 gnomAD v4
16g.2496564C>ACA394375906TBC1D24c.416C>A (p.Ala139Asp)
n.598C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496564C=CA2202259869TBC1D24c.416C= (p.Ala139=)
n.598C=
16g.2496564C>GCA394375908TBC1D24c.416C>G (p.Ala139Gly)
n.598C>G
16g.2496564C>TCA394375910TBC1D24c.416C>T (p.Ala139Val)
n.598C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496566delCA2631209895TBC1D24c.418del (p.Leu140CysfsTer29)
n.600del
gnomAD v4
16g.2496565C>ACA493366670TBC1D24c.417C>A (p.Ala139=)
n.599C>A
ClinVar
16g.2496565C=CA2202259870TBC1D24c.417C= (p.Ala139=)
n.599C=
16g.2496565C>GCA493366668TBC1D24c.417C>G (p.Ala139=)
n.599C>G
16g.2496565C>TCA493366669TBC1D24c.417C>T (p.Ala139=)
n.599C>T
dbSNP
16g.2496566C>ACA394375912TBC1D24c.418C>A (p.Leu140Met)
n.600C>A
16g.2496566C=CA2202259871TBC1D24c.418C= (p.Leu140=)
n.600C=
16g.2496566C>GCA394375913TBC1D24c.418C>G (p.Leu140Val)
n.600C>G
ClinVar dbSNP gnomAD v4
16g.2496566C>TCA493366671TBC1D24c.418C>T (p.Leu140=)
n.600C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496567T>ACA394375917TBC1D24c.419T>A (p.Leu140Gln)
n.601T>A
16g.2496567T>CCA394375918TBC1D24c.419T>C (p.Leu140Pro)
n.601T>C
16g.2496567T>GCA394375920TBC1D24c.419T>G (p.Leu140Arg)
n.601T>G
16g.2496568G>ACA493366674TBC1D24c.420G>A (p.Leu140=)
n.602G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496568G>CCA493366675TBC1D24c.420G>C (p.Leu140=)
n.602G>C
16g.2496568G=CA2202259872TBC1D24c.420G= (p.Leu140=)
n.602G=
16g.2496568G>TCA493366676TBC1D24c.420G>T (p.Leu140=)
n.602G>T
gnomAD v4
16g.2496569C>ACA7843997TBC1D24c.421C>A (p.Leu141Met)
n.603C>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496569C=CA2202259873TBC1D24c.421C= (p.Leu141=)
n.603C=
16g.2496569C>GCA394375924TBC1D24c.421C>G (p.Leu141Val)
n.603C>G
16g.2496569C>TCA493366678TBC1D24c.421C>T (p.Leu141=)
n.603C>T
gnomAD v4
16g.2496570T>ACA394375926TBC1D24c.422T>A (p.Leu141Gln)
n.604T>A
16g.2496570T>CCA276809625TBC1D24c.422T>C (p.Leu141Pro)
n.604T>C
dbSNP
16g.2496570T>GCA394375929TBC1D24c.422T>G (p.Leu141Arg)
n.604T>G
16g.2496570T=CA2202259874TBC1D24c.422T= (p.Leu141=)
n.604T=
16g.2496571G>ACA493366680TBC1D24c.423G>A (p.Leu141=)
n.605G>A
gnomAD v4
16g.2496571G>CCA493366682TBC1D24c.423G>C (p.Leu141=)
n.605G>C
16g.2496571G>TCA493366683TBC1D24c.423G>T (p.Leu141=)
n.605G>T
16g.2496572C>ACA394375931TBC1D24c.424C>A (p.Leu142Met)
n.606C>A
16g.2496572C=CA2202259875TBC1D24c.424C= (p.Leu142=)
n.606C=
16g.2496572C>GCA394375933TBC1D24c.424C>G (p.Leu142Val)
n.606C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496572C>TCA493366684TBC1D24c.424C>T (p.Leu142=)
n.606C>T
16g.2496573T>ACA394375937TBC1D24c.425T>A (p.Leu142Gln)
n.607T>A
16g.2496573T>CCA394375938TBC1D24c.425T>C (p.Leu142Pro)
n.607T>C
gnomAD v4 COSMIC
16g.2496573T>GCA394375941TBC1D24c.425T>G (p.Leu142Arg)
n.607T>G
gnomAD v4
16g.2496574G>ACA493366688TBC1D24c.426G>A (p.Leu142=)
n.608G>A
gnomAD v4
16g.2496574G>CCA493366689TBC1D24c.426G>C (p.Leu142=)
n.608G>C
16g.2496574G>TCA493366690TBC1D24c.426G>T (p.Leu142=)
n.608G>T
16g.2496575C>ACA394375946TBC1D24c.427C>A (p.His143Asn)
n.609C>A
gnomAD v4
16g.2496575C=CA2202259876TBC1D24c.427C= (p.His143=)
n.609C=
16g.2496575C>GCA394375947TBC1D24c.427C>G (p.His143Asp)
n.609C>G
16g.2496575C>TCA394375943TBC1D24c.427C>T (p.His143Tyr)
n.609C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496576A>CCA394375950TBC1D24c.428A>C (p.His143Pro)
n.610A>C
gnomAD v4
16g.2496576A>GCA394375954TBC1D24c.428A>G (p.His143Arg)
n.610A>G
16g.2496576A>TCA394375952TBC1D24c.428A>T (p.His143Leu)
n.610A>T
16g.2496577delCA2695222783TBC1D24c.429del (p.Tyr144ThrfsTer25)
n.611del
dbSNP
16g.2496577C>ACA394375957TBC1D24c.429C>A (p.His143Gln)
n.611C>A
16g.2496577C>GCA394375959TBC1D24c.429C>G (p.His143Gln)
n.611C>G
gnomAD v4
16g.2496577C>TCA493366692TBC1D24c.429C>T (p.His143=)
n.611C>T
16g.2496578T>ACA394375962TBC1D24c.430T>A (p.Tyr144Asn)
n.612T>A
dbSNP gnomAD v4
16g.2496578T>CCA7843998TBC1D24c.430T>C (p.Tyr144His)
n.612T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496578T>GCA394375965TBC1D24c.430T>G (p.Tyr144Asp)
n.612T>G
16g.2496578T=CA2202259877TBC1D24c.430T= (p.Tyr144=)
n.612T=
16g.2496579A=CA2202259878TBC1D24c.431A= (p.Tyr144=)
n.613A=
16g.2496579A>CCA394375968TBC1D24c.431A>C (p.Tyr144Ser)
n.613A>C
16g.2496579A>GCA394375970TBC1D24c.431A>G (p.Tyr144Cys)
n.613A>G
ClinVar dbSNP
16g.2496579A>TCA394375972TBC1D24c.431A>T (p.Tyr144Phe)
n.613A>T
16g.2496580C>ACA394375973TBC1D24c.432C>A (p.Tyr144Ter)
n.614C>A
16g.2496580C=CA2202259879TBC1D24c.432C= (p.Tyr144=)
n.614C=
16g.2496580C>GCA394375975TBC1D24c.432C>G (p.Tyr144Ter)
n.614C>G
16g.2496580C>TCA493366694TBC1D24c.432C>T (p.Tyr144=)
n.614C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496580_2496581insGAGGCCGAGCA2575883947TBC1D24c.432_433insGAGGCCGAG (p.Tyr144_Ser145insGluAlaGlu)
n.614_615insGAGGCCGAG
16g.2496581A>CCA394375977TBC1D24c.433A>C (p.Ser145Arg)
n.615A>C
16g.2496581A>GCA394375978TBC1D24c.433A>G (p.Ser145Gly)
n.615A>G
16g.2496581A>TCA394375980TBC1D24c.433A>T (p.Ser145Cys)
n.615A>T
16g.2496582G>ACA394375983TBC1D24c.434G>A (p.Ser145Asn)
n.616G>A
ClinVar dbSNP gnomAD v4
16g.2496582G>CCA394375986TBC1D24c.434G>C (p.Ser145Thr)
n.616G>C
16g.2496582G>TCA394375984TBC1D24c.434G>T (p.Ser145Ile)
n.616G>T
gnomAD v4
16g.2496583C>ACA394375987TBC1D24c.435C>A (p.Ser145Arg)
n.617C>A
16g.2496583C>GCA394375989TBC1D24c.435C>G (p.Ser145Arg)
n.617C>G
16g.2496583C>TCA493366699TBC1D24c.435C>T (p.Ser145=)
n.617C>T
gnomAD v4
16g.2496584A=CA2202259880TBC1D24c.436A= (p.Ile146=)
n.618A=
16g.2496584A>CCA394375991TBC1D24c.436A>C (p.Ile146Leu)
n.618A>C
16g.2496584A>GCA394375992TBC1D24c.436A>G (p.Ile146Val)
n.618A>G
dbSNP gnomAD v3 gnomAD v4
16g.2496584A>TCA394375994TBC1D24c.436A>T (p.Ile146Phe)
n.618A>T
16g.2496585T>ACA394375995TBC1D24c.437T>A (p.Ile146Asn)
n.619T>A
16g.2496585T>CCA394375997TBC1D24c.437T>C (p.Ile146Thr)
n.619T>C
16g.2496585T>GCA394375998TBC1D24c.437T>G (p.Ile146Ser)
n.619T>G
16g.2496589_2496606delCA2631209959TBC1D24c.441_458del (p.Asp147_Phe152del)
n.623_640del
gnomAD v4
16g.2496586C>ACA493366702TBC1D24c.438C>A (p.Ile146=)
n.620C>A
gnomAD v4
16g.2496586C=CA2202259881TBC1D24c.438C= (p.Ile146=)
n.620C=
16g.2496586C>GCA394376000TBC1D24c.438C>G (p.Ile146Met)
n.620C>G
16g.2496586C>TCA7843999TBC1D24c.438C>T (p.Ile146=)
n.620C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496587G>ACA7844000TBC1D24c.439G>A (p.Asp147Asn)
n.621G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496587G>CCA339785TBC1D24c.439G>C (p.Asp147His)
n.621G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496587G=CA2202259882TBC1D24c.439G= (p.Asp147=)
n.621G=
16g.2496587G>TCA394376002TBC1D24c.439G>T (p.Asp147Tyr)
n.621G>T
gnomAD v4
16g.2496588A=CA2202259883TBC1D24c.440A= (p.Asp147=)
n.622A=
16g.2496588A>CCA394376007TBC1D24c.440A>C (p.Asp147Ala)
n.622A>C
16g.2496588A>GCA7844001TBC1D24c.440A>G (p.Asp147Gly)
n.622A>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496588A>TCA394376010TBC1D24c.440A>T (p.Asp147Val)
n.622A>T
16g.2496589C>ACA394376012TBC1D24c.441C>A (p.Asp147Glu)
n.623C>A
16g.2496589C=CA2202259884TBC1D24c.441C= (p.Asp147=)
n.623C=
16g.2496589C>GCA394376014TBC1D24c.441C>G (p.Asp147Glu)
n.623C>G
dbSNP gnomAD v4
16g.2496589C>TCA302805TBC1D24c.441C>T (p.Asp147=)
n.623C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496590G>ACA7844002TBC1D24c.442G>A (p.Glu148Lys)
n.624G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496590G>CCA394376018TBC1D24c.442G>C (p.Glu148Gln)
n.624G>C
16g.2496590G=CA2202259885TBC1D24c.442G= (p.Glu148=)
n.624G=
16g.2496590G>TCA7844003TBC1D24c.442G>T (p.Glu148Ter)
n.624G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496591A>CCA394376020TBC1D24c.443A>C (p.Glu148Ala)
n.625A>C
16g.2496591A>GCA394376023TBC1D24c.443A>G (p.Glu148Gly)
n.625A>G
16g.2496591A>TCA394376025TBC1D24c.443A>T (p.Glu148Val)
n.625A>T
16g.2496592G>ACA7844004TBC1D24c.444G>A (p.Glu148=)
n.626G>A
dbSNP ExAC gnomAD v2
16g.2496592G>CCA394376028TBC1D24c.444G>C (p.Glu148Asp)
n.626G>C
16g.2496592G=CA2202259886TBC1D24c.444G= (p.Glu148=)
n.626G=
16g.2496592G>TCA394376026TBC1D24c.444G>T (p.Glu148Asp)
n.626G>T
16g.2496593G>ACA394376031TBC1D24c.445G>A (p.Ala149Thr)
n.627G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496593G>CCA394376033TBC1D24c.445G>C (p.Ala149Pro)
n.627G>C
16g.2496593G=CA2202259887TBC1D24c.445G= (p.Ala149=)
n.627G=
16g.2496593G>TCA394376035TBC1D24c.445G>T (p.Ala149Ser)
n.627G>T
gnomAD v4
16g.2496594C>ACA394376036TBC1D24c.446C>A (p.Ala149Asp)
n.628C>A
dbSNP gnomAD v4
16g.2496594C=CA2202259888TBC1D24c.446C= (p.Ala149=)
n.628C=
16g.2496594C>GCA394376038TBC1D24c.446C>G (p.Ala149Gly)
n.628C>G
16g.2496594C>TCA394376039TBC1D24c.446C>T (p.Ala149Val)
n.628C>T
ClinVar dbSNP
16g.2496595C>ACA493366708TBC1D24c.447C>A (p.Ala149=)
n.629C>A
dbSNP
16g.2496595C=CA2202259889TBC1D24c.447C= (p.Ala149=)
n.629C=
16g.2496595C>GCA493366711TBC1D24c.447C>G (p.Ala149=)
n.629C>G
16g.2496595C>TCA7844005TBC1D24c.447C>T (p.Ala149=)
n.629C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496596G>ACA7844006TBC1D24c.448G>A (p.Glu150Lys)
n.630G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496596G>CCA394376043TBC1D24c.448G>C (p.Glu150Gln)
n.630G>C
gnomAD v4
16g.2496596G=CA2202259890TBC1D24c.448G= (p.Glu150=)
n.630G=
16g.2496596G>TCA394376045TBC1D24c.448G>T (p.Glu150Ter)
n.630G>T
16g.2496597A>CCA394376047TBC1D24c.449A>C (p.Glu150Ala)
n.631A>C
16g.2496597A>GCA394376048TBC1D24c.449A>G (p.Glu150Gly)
n.631A>G
16g.2496597A>TCA394376049TBC1D24c.449A>T (p.Glu150Val)
n.631A>T
16g.2496598G>ACA493366716TBC1D24c.450G>A (p.Glu150=)
n.632G>A
gnomAD v4
16g.2496598G>CCA394376051TBC1D24c.450G>C (p.Glu150Asp)
n.632G>C
16g.2496598G>TCA394376052TBC1D24c.450G>T (p.Glu150Asp)
n.632G>T
gnomAD v4
16g.2496599T>ACA394376055TBC1D24c.451T>A (p.Cys151Ser)
n.633T>A
16g.2496599T>CCA394376057TBC1D24c.451T>C (p.Cys151Arg)
n.633T>C
16g.2496599T>GCA394376056TBC1D24c.451T>G (p.Cys151Gly)
n.633T>G
16g.2496600G>ACA394376059TBC1D24c.452G>A (p.Cys151Tyr)
n.634G>A
gnomAD v4
16g.2496600G>CCA394376064TBC1D24c.452G>C (p.Cys151Ser)
n.634G>C
16g.2496600G=CA2202259891TBC1D24c.452G= (p.Cys151=)
n.634G=
16g.2496600G>TCA394376062TBC1D24c.452G>T (p.Cys151Phe)
n.634G>T
dbSNP
16g.2496601C>ACA394376067TBC1D24c.453C>A (p.Cys151Ter)
n.635C>A
16g.2496601C=CA2202259892TBC1D24c.453C= (p.Cys151=)
n.635C=
16g.2496601C>GCA394376068TBC1D24c.453C>G (p.Cys151Trp)
n.635C>G
16g.2496601C>TCA493366720TBC1D24c.453C>T (p.Cys151=)
n.635C>T
dbSNP gnomAD v3 gnomAD v4
16g.2496602T>ACA394376071TBC1D24c.454T>A (p.Phe152Ile)
n.636T>A
16g.2496602T>CCA394376073TBC1D24c.454T>C (p.Phe152Leu)
n.636T>C
16g.2496602T>GCA394376074TBC1D24c.454T>G (p.Phe152Val)
n.636T>G
16g.2496603T>ACA394376077TBC1D24c.455T>A (p.Phe152Tyr)
n.637T>A
gnomAD v4
16g.2496603T>CCA394376079TBC1D24c.455T>C (p.Phe152Ser)
n.637T>C
ClinVar
16g.2496603T>GCA394376081TBC1D24c.455T>G (p.Phe152Cys)
n.637T>G
16g.2496604C>ACA394376083TBC1D24c.456C>A (p.Phe152Leu)
n.638C>A
16g.2496604C=CA2202259893TBC1D24c.456C= (p.Phe152=)
n.638C=
16g.2496604C>GCA394376085TBC1D24c.456C>G (p.Phe152Leu)
n.638C>G
16g.2496604C>TCA493366724TBC1D24c.456C>T (p.Phe152=)
n.638C>T
ClinVar dbSNP gnomAD v4
16g.2496605G>ACA319022TBC1D24c.457G>A (p.Glu153Lys)
n.639G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496605G>CCA394376088TBC1D24c.457G>C (p.Glu153Gln)
n.639G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496605G=CA2202259894TBC1D24c.457G= (p.Glu153=)
n.639G=
16g.2496605G>TCA394376089TBC1D24c.457G>T (p.Glu153Ter)
n.639G>T
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched