Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.6714320C>TCA2587878698C3c.476+32G>A (n.476+32G>A)
c.599+32G>A (n.599+32G>A)
n.32G>A
 gnomAD v4
19g.6714321C>TCA2587878699C3c.476+31G>A (n.476+31G>A)
c.599+31G>A (n.599+31G>A)
n.31G>A
 gnomAD v4
19g.6714324G>ACA2320568532C3c.476+28C>T (n.476+28C>T)
c.599+28C>T (n.599+28C>T)
n.28C>T
 dbSNP gnomAD v4
19g.6714324G=CA2320568531C3c.476+28C= (n.476+28C=)
c.599+28C= (n.599+28C=)
n.28C=
19g.6714326G>ACA2587878700C3c.476+26C>T (n.476+26C>T)
c.599+26C>T (n.599+26C>T)
n.26C>T
 gnomAD v4
19g.6714327C>ACA631722480C3c.476+25G>T (n.476+25G>T)
c.599+25G>T (n.599+25G>T)
n.25G>T
 dbSNP gnomAD v2 gnomAD v4
19g.6714327C=CA2320568533C3c.476+25G= (n.476+25G=)
c.599+25G= (n.599+25G=)
n.25G=
19g.6714327C>TCA304799056C3c.476+25G>A (n.476+25G>A)
c.599+25G>A (n.599+25G>A)
n.25G>A
 dbSNP
19g.6714331delCA2813446791C3c.476+25del (n.476+25del)
c.599+25del (n.599+25del)
n.25del
19g.6714328C>ACA9129769C3c.476+24G>T (n.476+24G>T)
c.599+24G>T (n.599+24G>T)
n.24G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714328C=CA2320568534C3c.476+24G= (n.476+24G=)
c.599+24G= (n.599+24G=)
n.24G=
19g.6714329C=CA2320568535C3c.476+23G= (n.476+23G=)
c.599+23G= (n.599+23G=)
n.23G=
19g.6714329C>TCA2320568536C3c.476+23G>A (n.476+23G>A)
c.599+23G>A (n.599+23G>A)
n.23G>A
 dbSNP
19g.6714332T>CCA631722481C3c.476+20A>G (n.476+20A>G)
c.599+20A>G (n.599+20A>G)
n.20A>G
 dbSNP gnomAD v2
19g.6714332T=CA2320568537C3c.476+20A= (n.476+20A=)
c.599+20A= (n.599+20A=)
n.20A=
19g.6714333C=CA2320568538C3c.476+19G= (n.476+19G=)
c.599+19G= (n.599+19G=)
n.19G=
19g.6714333C>TCA2320568539C3c.476+19G>A (n.476+19G>A)
c.599+19G>A (n.599+19G>A)
n.19G>A
 dbSNP gnomAD v4
19g.6714334C>GCA2587878701C3c.476+18G>C (n.476+18G>C)
c.599+18G>C (n.599+18G>C)
n.18G>C
 gnomAD v4
19g.6714339G>ACA2587878702C3c.476+13C>T (n.476+13C>T)
c.599+13C>T (n.599+13C>T)
n.13C>T
 gnomAD v4
19g.6714339G>TCA2587878703C3c.476+13C>A (n.476+13C>A)
c.599+13C>A (n.599+13C>A)
n.13C>A
 gnomAD v4
19g.6714342C>ACA2499225613C3c.476+10G>T (n.476+10G>T)
c.599+10G>T (n.599+10G>T)
n.10G>T
 ClinVar dbSNP
19g.6714342C=CA2320568540C3c.476+10G= (n.476+10G=)
c.599+10G= (n.599+10G=)
n.10G=
19g.6714342C>GCA631722482C3c.476+10G>C (n.476+10G>C)
c.599+10G>C (n.599+10G>C)
n.10G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714343delCA2587878704C3c.476+10del (n.476+10del)
c.599+10del (n.599+10del)
n.10del
 gnomAD v4
19g.6714343C=CA2320568541C3c.476+9G= (n.476+9G=)
c.599+9G= (n.599+9G=)
n.9G=
19g.6714343C>GCA2587878705C3c.476+9G>C (n.476+9G>C)
c.599+9G>C (n.599+9G>C)
n.9G>C
 gnomAD v4
19g.6714343C>TCA304799064C3c.476+9G>A (n.476+9G>A)
c.599+9G>A (n.599+9G>A)
n.9G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714347C>ACA2320568543C3c.476+5G>T (n.476+5G>T)
c.599+5G>T (n.599+5G>T)
n.5G>T
 dbSNP
19g.6714347C=CA2320568542C3c.476+5G= (n.476+5G=)
c.599+5G= (n.599+5G=)
n.5G=
19g.6714348A>GCA2580097046C3c.476+4T>C (n.476+4T>C)
c.599+4T>C (n.599+4T>C)
n.4T>C
 ClinVar
19g.6714350A>CCA403643306C3c.476+2T>G (n.476+2T>G)
c.599+2T>G (n.599+2T>G)
n.2T>G
19g.6714350A>GCA403643307C3c.476+2T>C (n.476+2T>C)
c.599+2T>C (n.599+2T>C)
n.2T>C
19g.6714350A>TCA403643309C3c.476+2T>A (n.476+2T>A)
c.599+2T>A (n.599+2T>A)
n.2T>A
19g.6714351C>ACA403643312C3c.476+1G>T (n.476+1G>T)
c.599+1G>T (n.599+1G>T)
n.1G>T
19g.6714351C>GCA403643313C3c.476+1G>C (n.476+1G>C)
c.599+1G>C (n.599+1G>C)
n.1G>C
19g.6714351C>TCA403643314C3c.476+1G>A (n.476+1G>A)
c.599+1G>A (n.599+1G>A)
n.1G>A
 dbSNP gnomAD v4
19g.6714352T>ACA403643316C3c.476A>T (p.Asn159Ile)
c.599A>T (p.Asn200Ile)
 gnomAD v4
19g.6714352T>CCA403643319C3c.476A>G (p.Asn159Ser)
c.599A>G (p.Asn200Ser)
 gnomAD v4
19g.6714352T>GCA403643318C3c.476A>C (p.Asn159Thr)
c.599A>C (p.Asn200Thr)
19g.6714353T>ACA403643321C3c.475A>T (p.Asn159Tyr)
c.598A>T (p.Asn200Tyr)
19g.6714353T>CCA403643323C3c.475A>G (p.Asn159Asp)
c.598A>G (p.Asn200Asp)
19g.6714353T>GCA403643324C3c.475A>C (p.Asn159His)
c.598A>C (p.Asn200His)
19g.6714354G>ACA9129770C3c.474C>T (p.Val158=)
c.597C>T (p.Val199=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714354G>CCA9129771C3c.474C>G (p.Val158=)
c.597C>G (p.Val199=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714354G=CA2320568544C3c.474C= (p.Val158=)
c.597C= (p.Val199=)
19g.6714354G>TCA505125013C3c.474C>A (p.Val158=)
c.597C>A (p.Val199=)
19g.6714355A>CCA403643327C3c.473T>G (p.Val158Gly)
c.596T>G (p.Val199Gly)
19g.6714355A>GCA403643329C3c.473T>C (p.Val158Ala)
c.596T>C (p.Val199Ala)
19g.6714355A>TCA403643331C3c.473T>A (p.Val158Asp)
c.596T>A (p.Val199Asp)
19g.6714356C>ACA403643332C3c.472G>T (p.Val158Phe)
c.595G>T (p.Val199Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.6714356C=CA2320568545C3c.472G= (p.Val158=)
c.595G= (p.Val199=)
19g.6714356C>GCA403643334C3c.472G>C (p.Val158Leu)
c.595G>C (p.Val199Leu)
19g.6714356C>TCA9129772C3c.472G>A (p.Val158Ile)
c.595G>A (p.Val199Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714357G>ACA9129773C3c.471C>T (p.Leu157=)
c.594C>T (p.Leu198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.6714357G>CCA505125014C3c.471C>G (p.Leu157=)
c.594C>G (p.Leu198=)
19g.6714357G=CA2320568546C3c.471C= (p.Leu157=)
c.594C= (p.Leu198=)
19g.6714357G>TCA505125015C3c.471C>A (p.Leu157=)
c.594C>A (p.Leu198=)
 gnomAD v4
19g.6714358A>CCA403643336C3c.470T>G (p.Leu157Arg)
c.593T>G (p.Leu198Arg)
 gnomAD v4
19g.6714358A>GCA403643339C3c.470T>C (p.Leu157Pro)
c.593T>C (p.Leu198Pro)
19g.6714358A>TCA403643337C3c.470T>A (p.Leu157His)
c.593T>A (p.Leu198His)
 gnomAD v4
19g.6714359G>ACA403643340C3c.469C>T (p.Leu157Phe)
c.592C>T (p.Leu198Phe)
19g.6714359G>CCA403643341C3c.469C>G (p.Leu157Val)
c.592C>G (p.Leu198Val)
19g.6714359G>TCA403643343C3c.469C>A (p.Leu157Ile)
c.592C>A (p.Leu198Ile)
19g.6714360T>ACA403643344C3c.468A>T (p.Glu156Asp)
c.591A>T (p.Glu197Asp)
19g.6714360T>CCA505125016C3c.468A>G (p.Glu156=)
c.591A>G (p.Glu197=)
 ClinVar dbSNP gnomAD v4
19g.6714360T>GCA403643346C3c.468A>C (p.Glu156Asp)
c.591A>C (p.Glu197Asp)
19g.6714361T>ACA403643347C3c.467A>T (p.Glu156Val)
c.590A>T (p.Glu197Val)
19g.6714361T>CCA403643348C3c.467A>G (p.Glu156Gly)
c.590A>G (p.Glu197Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714361T>GCA403643350C3c.467A>C (p.Glu156Ala)
c.590A>C (p.Glu197Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714361T=CA2320568547C3c.467A= (p.Glu156=)
c.590A= (p.Glu197=)
19g.6714362C>ACA403643352C3c.466G>T (p.Glu156Ter)
c.589G>T (p.Glu197Ter)
19g.6714362C=CA2320568548C3c.466G= (p.Glu156=)
c.589G= (p.Glu197=)
19g.6714362C>GCA403643353C3c.466G>C (p.Glu156Gln)
c.589G>C (p.Glu197Gln)
 dbSNP
19g.6714362C>TCA403643354C3c.466G>A (p.Glu156Lys)
c.589G>A (p.Glu197Lys)
19g.6714363delCA2587878706C3c.466del (p.Glu156AsnfsTer28)
c.589del (p.Glu197AsnfsTer28)
 gnomAD v4
19g.6714363C>ACA505125017C3c.465G>T (p.Pro155=)
c.588G>T (p.Pro196=)
19g.6714363C=CA2320568549C3c.465G= (p.Pro155=)
c.588G= (p.Pro196=)
19g.6714363C>GCA505125018C3c.465G>C (p.Pro155=)
c.588G>C (p.Pro196=)
19g.6714363C>TCA9129774C3c.465G>A (p.Pro155=)
c.588G>A (p.Pro196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714364G>ACA403643358C3c.464C>T (p.Pro155Leu)
c.587C>T (p.Pro196Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714364G>CCA403643356C3c.464C>G (p.Pro155Arg)
c.587C>G (p.Pro196Arg)
19g.6714364G=CA2320568550C3c.464C= (p.Pro155=)
c.587C= (p.Pro196=)
19g.6714364G>TCA403643355C3c.464C>A (p.Pro155Gln)
c.587C>A (p.Pro196Gln)
19g.6714365G>ACA403643359C3c.463C>T (p.Pro155Ser)
c.586C>T (p.Pro196Ser)
19g.6714365G>CCA403643360C3c.463C>G (p.Pro155Ala)
c.586C>G (p.Pro196Ala)
19g.6714365G>TCA403643362C3c.463C>A (p.Pro155Thr)
c.586C>A (p.Pro196Thr)
19g.6714366A>CCA403643363C3c.462T>G (p.Ile154Met)
c.585T>G (p.Ile195Met)
19g.6714366A>GCA505125020C3c.462T>C (p.Ile154=)
c.585T>C (p.Ile195=)
 gnomAD v4
19g.6714366A>TCA505125019C3c.462T>A (p.Ile154=)
c.585T>A (p.Ile195=)
19g.6714367A=CA2320568551C3c.461T= (p.Ile154=)
c.584T= (p.Ile195=)
19g.6714367A>CCA403643365C3c.461T>G (p.Ile154Ser)
c.584T>G (p.Ile195Ser)
19g.6714367A>GCA9129775C3c.461T>C (p.Ile154Thr)
c.584T>C (p.Ile195Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714367A>TCA403643367C3c.461T>A (p.Ile154Asn)
c.584T>A (p.Ile195Asn)
19g.6714368T>ACA403643368C3c.460A>T (p.Ile154Phe)
c.583A>T (p.Ile195Phe)
19g.6714368T>CCA403643369C3c.460A>G (p.Ile154Val)
c.583A>G (p.Ile195Val)
 dbSNP gnomAD v2 gnomAD v4
19g.6714368T>GCA403643370C3c.460A>C (p.Ile154Leu)
c.583A>C (p.Ile195Leu)
19g.6714368T=CA2320568552C3c.460A= (p.Ile154=)
c.583A= (p.Ile195=)
19g.6714369G>ACA505125021C3c.459C>T (p.Asp153=)
c.582C>T (p.Asp194=)
 gnomAD v4
19g.6714369G>CCA403643371C3c.459C>G (p.Asp153Glu)
c.582C>G (p.Asp194Glu)
19g.6714369G>TCA403643372C3c.459C>A (p.Asp153Glu)
c.582C>A (p.Asp194Glu)
19g.6714370T>ACA403643374C3c.458A>T (p.Asp153Val)
c.581A>T (p.Asp194Val)
19g.6714370T>CCA403643377C3c.458A>G (p.Asp153Gly)
c.581A>G (p.Asp194Gly)
19g.6714370T>GCA403643375C3c.458A>C (p.Asp153Ala)
c.581A>C (p.Asp194Ala)
19g.6714371C>ACA403643379C3c.457G>T (p.Asp153Tyr)
c.580G>T (p.Asp194Tyr)
19g.6714371C>GCA403643382C3c.457G>C (p.Asp153His)
c.580G>C (p.Asp194His)
19g.6714371C>TCA403643380C3c.457G>A (p.Asp153Asn)
c.580G>A (p.Asp194Asn)
 gnomAD v4 COSMIC
19g.6714372C>ACA403643383C3c.456G>T (p.Trp152Cys)
c.579G>T (p.Trp193Cys)
19g.6714372C>GCA403643386C3c.456G>C (p.Trp152Cys)
c.579G>C (p.Trp193Cys)
19g.6714372C>TCA403643384C3c.456G>A (p.Trp152Ter)
c.579G>A (p.Trp193Ter)
19g.6714373C>ACA403643388C3c.455G>T (p.Trp152Leu)
c.578G>T (p.Trp193Leu)
19g.6714373C>GCA403643390C3c.455G>C (p.Trp152Ser)
c.578G>C (p.Trp193Ser)
19g.6714373C>TCA403643391C3c.455G>A (p.Trp152Ter)
c.578G>A (p.Trp193Ter)
 COSMIC
19g.6714374A>CCA403643392C3c.454T>G (p.Trp152Gly)
c.577T>G (p.Trp193Gly)
19g.6714374A>GCA403643394C3c.454T>C (p.Trp152Arg)
c.577T>C (p.Trp193Arg)
19g.6714374A>TCA403643395C3c.454T>A (p.Trp152Arg)
c.577T>A (p.Trp193Arg)
19g.6714375A>CCA505125022C3c.453T>G (p.Ser151=)
c.576T>G (p.Ser192=)
19g.6714375A>GCA505125023C3c.453T>C (p.Ser151=)
c.576T>C (p.Ser192=)
19g.6714375A>TCA505125024C3c.453T>A (p.Ser151=)
c.576T>A (p.Ser192=)
19g.6714376G>ACA403643397C3c.452C>T (p.Ser151Phe)
c.575C>T (p.Ser192Phe)
19g.6714376G>CCA403643398C3c.452C>G (p.Ser151Cys)
c.575C>G (p.Ser192Cys)
19g.6714376G>TCA403643400C3c.452C>A (p.Ser151Tyr)
c.575C>A (p.Ser192Tyr)
19g.6714377A>CCA403643401C3c.451T>G (p.Ser151Ala)
c.574T>G (p.Ser192Ala)
19g.6714377A>GCA403643403C3c.451T>C (p.Ser151Pro)
c.574T>C (p.Ser192Pro)
19g.6714377A>TCA403643404C3c.451T>A (p.Ser151Thr)
c.574T>A (p.Ser192Thr)
19g.6714378C>ACA403643406C3c.450G>T (p.Leu150Phe)
c.573G>T (p.Leu191Phe)
19g.6714378C>GCA403643407C3c.450G>C (p.Leu150Phe)
c.573G>C (p.Leu191Phe)
19g.6714378C>TCA505125025C3c.450G>A (p.Leu150=)
c.573G>A (p.Leu191=)
19g.6714379A>CCA403643409C3c.449T>G (p.Leu150Trp)
c.572T>G (p.Leu191Trp)
19g.6714379A>GCA403643410C3c.449T>C (p.Leu150Ser)
c.572T>C (p.Leu191Ser)
 gnomAD v4
19g.6714379A>TCA403643411C3c.449T>A (p.Leu150Ter)
c.572T>A (p.Leu191Ter)
19g.6714380A>CCA403643413C3c.448T>G (p.Leu150Val)
c.571T>G (p.Leu191Val)
19g.6714380A>GCA505125026C3c.448T>C (p.Leu150=)
c.571T>C (p.Leu191=)
19g.6714380A>TCA403643415C3c.448T>A (p.Leu150Met)
c.571T>A (p.Leu191Met)
19g.6714381G>ACA505125027C3c.447C>T (p.Pro149=)
c.570C>T (p.Pro190=)
 dbSNP gnomAD v2 gnomAD v4
19g.6714381G>CCA505125028C3c.447C>G (p.Pro149=)
c.570C>G (p.Pro190=)
19g.6714381G=CA2320568553C3c.447C= (p.Pro149=)
c.570C= (p.Pro190=)
19g.6714381G>TCA505125029C3c.447C>A (p.Pro149=)
c.570C>A (p.Pro190=)
19g.6714382G>ACA403643416C3c.446C>T (p.Pro149Leu)
c.569C>T (p.Pro190Leu)
 dbSNP
19g.6714382G>CCA403643417C3c.446C>G (p.Pro149Arg)
c.569C>G (p.Pro190Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.6714382G=CA2320568554C3c.446C= (p.Pro149=)
c.569C= (p.Pro190=)
19g.6714382G>TCA403643419C3c.446C>A (p.Pro149His)
c.569C>A (p.Pro190His)
19g.6714383G>ACA304799106C3c.445C>T (p.Pro149Ser)
c.568C>T (p.Pro190Ser)
 dbSNP
19g.6714383G>CCA403643422C3c.445C>G (p.Pro149Ala)
c.568C>G (p.Pro190Ala)
19g.6714383G=CA2320568555C3c.445C= (p.Pro149=)
c.568C= (p.Pro190=)
19g.6714383G>TCA403643423C3c.445C>A (p.Pro149Thr)
c.568C>A (p.Pro190Thr)
19g.6714384C>ACA403643424C3c.444G>T (p.Leu148Phe)
c.567G>T (p.Leu189Phe)
19g.6714384C>GCA403643425C3c.444G>C (p.Leu148Phe)
c.567G>C (p.Leu189Phe)
19g.6714384C>TCA505125030C3c.444G>A (p.Leu148=)
c.567G>A (p.Leu189=)
19g.6714385A>CCA403643427C3c.443T>G (p.Leu148Trp)
c.566T>G (p.Leu189Trp)
19g.6714385A>GCA403643429C3c.443T>C (p.Leu148Ser)
c.566T>C (p.Leu189Ser)
19g.6714385A>TCA403643431C3c.443T>A (p.Leu148Ter)
c.566T>A (p.Leu189Ter)
19g.6714386A>CCA403643432C3c.442T>G (p.Leu148Val)
c.565T>G (p.Leu189Val)
19g.6714386A>GCA505125031C3c.442T>C (p.Leu148=)
c.565T>C (p.Leu189=)
19g.6714386A>TCA403643433C3c.442T>A (p.Leu148Met)
c.565T>A (p.Leu189Met)
19g.6714387G>ACA505125032C3c.441C>T (p.Val147=)
c.564C>T (p.Val188=)
19g.6714387G>CCA505125033C3c.441C>G (p.Val147=)
c.564C>G (p.Val188=)
19g.6714387G>TCA505125034C3c.441C>A (p.Val147=)
c.564C>A (p.Val188=)
19g.6714388A>CCA403643435C3c.440T>G (p.Val147Gly)
c.563T>G (p.Val188Gly)
19g.6714388A>GCA403643437C3c.440T>C (p.Val147Ala)
c.563T>C (p.Val188Ala)
19g.6714388A>TCA403643438C3c.440T>A (p.Val147Asp)
c.563T>A (p.Val188Asp)
19g.6714389C>ACA304799108C3c.439G>T (p.Val147Phe)
c.562G>T (p.Val188Phe)
 dbSNP gnomAD v3 gnomAD v4
19g.6714389C=CA2320568556C3c.439G= (p.Val147=)
c.562G= (p.Val188=)
19g.6714389C>GCA403643440C3c.439G>C (p.Val147Leu)
c.562G>C (p.Val188Leu)
19g.6714389C>TCA9129776C3c.439G>A (p.Val147Ile)
c.562G>A (p.Val188Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.6714390G>ACA9129777C3c.438C>T (p.Gly146=)
c.561C>T (p.Gly187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714390G>CCA505125035C3c.438C>G (p.Gly146=)
c.561C>G (p.Gly187=)
19g.6714390G=CA2320568557C3c.438C= (p.Gly146=)
c.561C= (p.Gly187=)
19g.6714390G>TCA505125036C3c.438C>A (p.Gly146=)
c.561C>A (p.Gly187=)
19g.6714391C>ACA403643446C3c.437G>T (p.Gly146Val)
c.560G>T (p.Gly187Val)
19g.6714391C>GCA403643444C3c.437G>C (p.Gly146Ala)
c.560G>C (p.Gly187Ala)
19g.6714391C>TCA403643445C3c.437G>A (p.Gly146Asp)
c.560G>A (p.Gly187Asp)
19g.6714392C>ACA403643448C3c.436G>T (p.Gly146Cys)
c.559G>T (p.Gly187Cys)
19g.6714392C>GCA403643450C3c.436G>C (p.Gly146Arg)
c.559G>C (p.Gly187Arg)
19g.6714392C>TCA403643451C3c.436G>A (p.Gly146Ser)
c.559G>A (p.Gly187Ser)
19g.6714393A>CCA505125037C3c.435T>G (p.Leu145=)
c.558T>G (p.Leu186=)
19g.6714393A>GCA505125038C3c.435T>C (p.Leu145=)
c.558T>C (p.Leu186=)
19g.6714393A>TCA505125039C3c.435T>A (p.Leu145=)
c.558T>A (p.Leu186=)
19g.6714394A=CA2320568558C3c.434T= (p.Leu145=)
c.557T= (p.Leu186=)
19g.6714394A>CCA403643453C3c.434T>G (p.Leu145Arg)
c.557T>G (p.Leu186Arg)
19g.6714394A>GCA9129778C3c.434T>C (p.Leu145Pro)
c.557T>C (p.Leu186Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714394A>TCA403643455C3c.434T>A (p.Leu145His)
c.557T>A (p.Leu186His)
19g.6714395G>ACA403643457C3c.433C>T (p.Leu145Phe)
c.556C>T (p.Leu186Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714395G>CCA403643458C3c.433C>G (p.Leu145Val)
c.556C>G (p.Leu186Val)
19g.6714395G=CA2320568559C3c.433C= (p.Leu145=)
c.556C= (p.Leu186=)
19g.6714395G>TCA403643460C3c.433C>A (p.Leu145Ile)
c.556C>A (p.Leu186Ile)
19g.6714396C>ACA403643463C3c.432G>T (p.Gln144His)
c.555G>T (p.Gln185His)
19g.6714396C>GCA403643464C3c.432G>C (p.Gln144His)
c.555G>C (p.Gln185His)
 ClinVar
19g.6714396C>TCA505125040C3c.432G>A (p.Gln144=)
c.555G>A (p.Gln185=)
19g.6714397T>ACA403643467C3c.431A>T (p.Gln144Leu)
c.554A>T (p.Gln185Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.6714397T>CCA403643469C3c.431A>G (p.Gln144Arg)
c.554A>G (p.Gln185Arg)
19g.6714397T>GCA403643465C3c.431A>C (p.Gln144Pro)
c.554A>C (p.Gln185Pro)
19g.6714397T=CA2320568560C3c.431A= (p.Gln144=)
c.554A= (p.Gln185=)
19g.6714398G>ACA403643473C3c.430C>T (p.Gln144Ter)
c.553C>T (p.Gln185Ter)
19g.6714398G>CCA403643470C3c.430C>G (p.Gln144Glu)
c.553C>G (p.Gln185Glu)
19g.6714398G>TCA403643472C3c.430C>A (p.Gln144Lys)
c.553C>A (p.Gln185Lys)
19g.6714399G>ACA505125041C3c.429C>T (p.Asn143=)
c.552C>T (p.Asn184=)
19g.6714399G>CCA403643475C3c.429C>G (p.Asn143Lys)
c.552C>G (p.Asn184Lys)
 gnomAD v4
19g.6714399G>TCA403643477C3c.429C>A (p.Asn143Lys)
c.552C>A (p.Asn184Lys)
19g.6714400T>ACA403643479C3c.428A>T (p.Asn143Ile)
c.551A>T (p.Asn184Ile)
19g.6714400T>CCA403643480C3c.428A>G (p.Asn143Ser)
c.551A>G (p.Asn184Ser)
19g.6714400T>GCA403643481C3c.428A>C (p.Asn143Thr)
c.551A>C (p.Asn184Thr)
19g.6714401T>ACA403643483C3c.427A>T (p.Asn143Tyr)
c.550A>T (p.Asn184Tyr)
19g.6714401T>CCA403643484C3c.427A>G (p.Asn143Asp)
c.550A>G (p.Asn184Asp)
19g.6714401T>GCA403643486C3c.427A>C (p.Asn143His)
c.550A>C (p.Asn184His)
19g.6714402C>ACA403643487C3c.426G>T (p.Gln142His)
c.549G>T (p.Gln183His)
19g.6714402C>GCA403643489C3c.426G>C (p.Gln142His)
c.549G>C (p.Gln183His)
19g.6714402C>TCA505125042C3c.426G>A (p.Gln142=)
c.549G>A (p.Gln183=)
19g.6714403T>ACA403643492C3c.425A>T (p.Gln142Leu)
c.548A>T (p.Gln183Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.6714403T>CCA403643493C3c.425A>G (p.Gln142Arg)
c.548A>G (p.Gln183Arg)
19g.6714403T>GCA403643491C3c.425A>C (p.Gln142Pro)
c.548A>C (p.Gln183Pro)
19g.6714403T=CA2320568561C3c.425A= (p.Gln142=)
c.548A= (p.Gln183=)
19g.6714404G>ACA403643495C3c.424C>T (p.Gln142Ter)
c.547C>T (p.Gln183Ter)
19g.6714404G>CCA403643496C3c.424C>G (p.Gln142Glu)
c.547C>G (p.Gln183Glu)
19g.6714404G>TCA403643498C3c.424C>A (p.Gln142Lys)
c.547C>A (p.Gln183Lys)
19g.6714405A=CA2320568562C3c.423T= (p.Ser141=)
c.546T= (p.Ser182=)
19g.6714405A>CCA505125043C3c.423T>G (p.Ser141=)
c.546T>G (p.Ser182=)
19g.6714405A>GCA505125044C3c.423T>C (p.Ser141=)
c.546T>C (p.Ser182=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714405A>TCA505125045C3c.423T>A (p.Ser141=)
c.546T>A (p.Ser182=)
19g.6714406G>ACA403643500C3c.422C>T (p.Ser141Phe)
c.545C>T (p.Ser182Phe)
19g.6714406G>CCA403643501C3c.422C>G (p.Ser141Cys)
c.545C>G (p.Ser182Cys)
19g.6714406G>TCA403643503C3c.422C>A (p.Ser141Tyr)
c.545C>A (p.Ser182Tyr)
19g.6714407A>CCA403643504C3c.421T>G (p.Ser141Ala)
c.544T>G (p.Ser182Ala)
19g.6714407A>GCA403643508C3c.421T>C (p.Ser141Pro)
c.544T>C (p.Ser182Pro)
19g.6714407A>TCA403643506C3c.421T>A (p.Ser141Thr)
c.544T>A (p.Ser182Thr)
19g.6714408A=CA2320568563C3c.420T= (p.Ser140=)
c.543T= (p.Ser181=)
19g.6714408A>CCA505125046C3c.420T>G (p.Ser140=)
c.543T>G (p.Ser181=)
19g.6714408A>GCA9129779C3c.420T>C (p.Ser140=)
c.543T>C (p.Ser181=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714408A>TCA505125047C3c.420T>A (p.Ser140=)
c.543T>A (p.Ser181=)
19g.6714409G>ACA403643510C3c.419C>T (p.Ser140Phe)
c.542C>T (p.Ser181Phe)
19g.6714409G>CCA403643512C3c.419C>G (p.Ser140Cys)
c.542C>G (p.Ser181Cys)
19g.6714409G>TCA403643514C3c.419C>A (p.Ser140Tyr)
c.542C>A (p.Ser181Tyr)
19g.6714410A>CCA403643518C3c.418T>G (p.Ser140Ala)
c.541T>G (p.Ser181Ala)
19g.6714410A>GCA403643516C3c.418T>C (p.Ser140Pro)
c.541T>C (p.Ser181Pro)
19g.6714410A>TCA403643515C3c.418T>A (p.Ser140Thr)
c.541T>A (p.Ser181Thr)
19g.6714411C>ACA403643520C3c.417G>T (p.Leu139Phe)
c.540G>T (p.Leu180Phe)
19g.6714411C=CA2320568564C3c.417G= (p.Leu139=)
c.540G= (p.Leu180=)
19g.6714411C>GCA403643521C3c.417G>C (p.Leu139Phe)
c.540G>C (p.Leu180Phe)
 gnomAD v4
19g.6714411C>TCA505125048C3c.417G>A (p.Leu139=)
c.540G>A (p.Leu180=)
 dbSNP gnomAD v3 gnomAD v4
19g.6714412A>CCA403643522C3c.416T>G (p.Leu139Trp)
c.539T>G (p.Leu180Trp)
19g.6714412A>GCA403643524C3c.416T>C (p.Leu139Ser)
c.539T>C (p.Leu180Ser)
19g.6714412A>TCA403643525C3c.416T>A (p.Leu139Ter)
c.539T>A (p.Leu180Ter)
19g.6714412_6714414delCA2573332852C3c.414_416del (p.Leu139del)
c.537_539del (p.Leu180del)
19g.6714413A>CCA403643527C3c.415T>G (p.Leu139Val)
c.538T>G (p.Leu180Val)
19g.6714413A>GCA505125049C3c.415T>C (p.Leu139=)
c.538T>C (p.Leu180=)
19g.6714413A>TCA403643528C3c.415T>A (p.Leu139Met)
c.538T>A (p.Leu180Met)
19g.6714414G>ACA505125050C3c.414C>T (p.Ser138=)
c.537C>T (p.Ser179=)
 dbSNP
19g.6714414G>CCA505125051C3c.414C>G (p.Ser138=)
c.537C>G (p.Ser179=)
19g.6714414G=CA2320568565C3c.414C= (p.Ser138=)
c.537C= (p.Ser179=)
19g.6714414G>TCA505125052C3c.414C>A (p.Ser138=)
c.537C>A (p.Ser179=)
 gnomAD v4
19g.6714415G>ACA304799139C3c.413C>T (p.Ser138Phe)
c.536C>T (p.Ser179Phe)
 dbSNP
19g.6714415G>CCA403643531C3c.413C>G (p.Ser138Cys)
c.536C>G (p.Ser179Cys)
19g.6714415G=CA2320568566C3c.413C= (p.Ser138=)
c.536C= (p.Ser179=)
19g.6714415G>TCA403643533C3c.413C>A (p.Ser138Tyr)
c.536C>A (p.Ser179Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.6714416A>CCA403643535C3c.412T>G (p.Ser138Ala)
c.535T>G (p.Ser179Ala)
19g.6714416A>GCA403643536C3c.412T>C (p.Ser138Pro)
c.535T>C (p.Ser179Pro)
19g.6714416A>TCA403643538C3c.412T>A (p.Ser138Thr)
c.535T>A (p.Ser179Thr)
19g.6714417G>ACA505125053C3c.411C>T (p.Asp137=)
c.534C>T (p.Asp178=)
19g.6714417G>CCA403643541C3c.411C>G (p.Asp137Glu)
c.534C>G (p.Asp178Glu)
19g.6714417G>TCA403643540C3c.411C>A (p.Asp137Glu)
c.534C>A (p.Asp178Glu)
19g.6714418T>ACA403643544C3c.410A>T (p.Asp137Val)
c.533A>T (p.Asp178Val)
19g.6714418T>CCA9129780C3c.410A>G (p.Asp137Gly)
c.533A>G (p.Asp178Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714418T>GCA403643545C3c.410A>C (p.Asp137Ala)
c.533A>C (p.Asp178Ala)
19g.6714418T=CA2320568567C3c.410A= (p.Asp137=)
c.533A= (p.Asp178=)

Number of alleles fetched