Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20348947G>ACA494096902UMODc.354C>T (p.Ser118=)
c.453C>T (p.Ser151=)
c.501C>T (p.Ser167=)
c.423C>T (p.Ser141=)
c.438C>T (p.Ser146=)
n.579C>T
 gnomAD v4
16g.20348947G>CCA394986312UMODc.354C>G (p.Ser118Arg)
c.453C>G (p.Ser151Arg)
c.501C>G (p.Ser167Arg)
c.423C>G (p.Ser141Arg)
c.438C>G (p.Ser146Arg)
n.579C>G
16g.20348947G>TCA394986315UMODc.354C>A (p.Ser118Arg)
c.453C>A (p.Ser151Arg)
c.501C>A (p.Ser167Arg)
c.423C>A (p.Ser141Arg)
c.438C>A (p.Ser146Arg)
n.579C>A
 gnomAD v4
16g.20348948C>ACA394986324UMODc.353G>T (p.Ser118Ile)
c.452G>T (p.Ser151Ile)
c.500G>T (p.Ser167Ile)
c.422G>T (p.Ser141Ile)
c.437G>T (p.Ser146Ile)
n.578G>T
 gnomAD v4
16g.20348948C=CA2211943185UMODc.353G= (p.Ser118=)
c.452G= (p.Ser151=)
c.500G= (p.Ser167=)
c.422G= (p.Ser141=)
c.437G= (p.Ser146=)
n.578G=
16g.20348948C>GCA394986322UMODc.353G>C (p.Ser118Thr)
c.452G>C (p.Ser151Thr)
c.500G>C (p.Ser167Thr)
c.422G>C (p.Ser141Thr)
c.437G>C (p.Ser146Thr)
n.578G>C
 gnomAD v4
16g.20348948C>TCA394986320UMODc.353G>A (p.Ser118Asn)
c.452G>A (p.Ser151Asn)
c.500G>A (p.Ser167Asn)
c.422G>A (p.Ser141Asn)
c.437G>A (p.Ser146Asn)
n.578G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348949T>ACA394986327UMODc.352A>T (p.Ser118Cys)
c.451A>T (p.Ser151Cys)
c.499A>T (p.Ser167Cys)
c.421A>T (p.Ser141Cys)
c.436A>T (p.Ser146Cys)
n.577A>T
16g.20348949T>CCA394986338UMODc.352A>G (p.Ser118Gly)
c.451A>G (p.Ser151Gly)
c.499A>G (p.Ser167Gly)
c.421A>G (p.Ser141Gly)
c.436A>G (p.Ser146Gly)
n.577A>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348949T>GCA394986331UMODc.352A>C (p.Ser118Arg)
c.451A>C (p.Ser151Arg)
c.499A>C (p.Ser167Arg)
c.421A>C (p.Ser141Arg)
c.436A>C (p.Ser146Arg)
n.577A>C
16g.20348949T=CA2211943187UMODc.352A= (p.Ser118=)
c.451A= (p.Ser151=)
c.499A= (p.Ser167=)
c.421A= (p.Ser141=)
c.436A= (p.Ser146=)
n.577A=
16g.20348950A=CA2211943190UMODc.351T= (p.Leu117=)
c.450T= (p.Leu150=)
c.498T= (p.Leu166=)
c.420T= (p.Leu140=)
c.435T= (p.Leu145=)
n.576T=
16g.20348950A>CCA494096907UMODc.351T>G (p.Leu117=)
c.450T>G (p.Leu150=)
c.498T>G (p.Leu166=)
c.420T>G (p.Leu140=)
c.435T>G (p.Leu145=)
n.576T>G
16g.20348950A>GCA494096908UMODc.351T>C (p.Leu117=)
c.450T>C (p.Leu150=)
c.498T>C (p.Leu166=)
c.420T>C (p.Leu140=)
c.435T>C (p.Leu145=)
n.576T>C
16g.20348950A>TCA494096910UMODc.351T>A (p.Leu117=)
c.450T>A (p.Leu150=)
c.498T>A (p.Leu166=)
c.420T>A (p.Leu140=)
c.435T>A (p.Leu145=)
n.576T>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348951A>CCA394986340UMODc.350T>G (p.Leu117Arg)
c.449T>G (p.Leu150Arg)
c.497T>G (p.Leu166Arg)
c.419T>G (p.Leu140Arg)
c.434T>G (p.Leu145Arg)
n.575T>G
16g.20348951A>GCA394986345UMODc.350T>C (p.Leu117Pro)
c.449T>C (p.Leu150Pro)
c.497T>C (p.Leu166Pro)
c.419T>C (p.Leu140Pro)
c.434T>C (p.Leu145Pro)
n.575T>C
16g.20348951A>TCA394986341UMODc.350T>A (p.Leu117His)
c.449T>A (p.Leu150His)
c.497T>A (p.Leu166His)
c.419T>A (p.Leu140His)
c.434T>A (p.Leu145His)
n.575T>A
16g.20348952G>ACA7939457UMODc.349C>T (p.Leu117Phe)
c.448C>T (p.Leu150Phe)
c.496C>T (p.Leu166Phe)
c.418C>T (p.Leu140Phe)
c.433C>T (p.Leu145Phe)
n.574C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348952G>CCA394986349UMODc.349C>G (p.Leu117Val)
c.448C>G (p.Leu150Val)
c.496C>G (p.Leu166Val)
c.418C>G (p.Leu140Val)
c.433C>G (p.Leu145Val)
n.574C>G
16g.20348952G=CA2211943191UMODc.349C= (p.Leu117=)
c.448C= (p.Leu150=)
c.496C= (p.Leu166=)
c.418C= (p.Leu140=)
c.433C= (p.Leu145=)
n.574C=
16g.20348952G>TCA394986351UMODc.349C>A (p.Leu117Ile)
c.448C>A (p.Leu150Ile)
c.496C>A (p.Leu166Ile)
c.418C>A (p.Leu140Ile)
c.433C>A (p.Leu145Ile)
n.574C>A
 gnomAD v4
16g.20348953C>ACA494096914UMODc.348G>T (p.Gly116=)
c.447G>T (p.Gly149=)
c.495G>T (p.Gly165=)
c.417G>T (p.Gly139=)
c.432G>T (p.Gly144=)
n.573G>T
 gnomAD v4
16g.20348953C=CA2211943195UMODc.348G= (p.Gly116=)
c.447G= (p.Gly149=)
c.495G= (p.Gly165=)
c.417G= (p.Gly139=)
c.432G= (p.Gly144=)
n.573G=
16g.20348953C>GCA494096915UMODc.348G>C (p.Gly116=)
c.447G>C (p.Gly149=)
c.495G>C (p.Gly165=)
c.417G>C (p.Gly139=)
c.432G>C (p.Gly144=)
n.573G>C
 dbSNP gnomAD v4
16g.20348953C>TCA494096917UMODc.348G>A (p.Gly116=)
c.447G>A (p.Gly149=)
c.495G>A (p.Gly165=)
c.417G>A (p.Gly139=)
c.432G>A (p.Gly144=)
n.573G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348954_20348955delCA2632115515UMODc.347_348del (p.Gly116AlafsTer2)
c.446_447del (p.Gly149AlafsTer2)
c.494_495del (p.Gly165AlafsTer2)
c.416_417del (p.Gly139AlafsTer2)
c.431_432del (p.Gly144AlafsTer2)
n.572_573del
 gnomAD v4
16g.20348954C>ACA394986356UMODc.347G>T (p.Gly116Val)
c.446G>T (p.Gly149Val)
c.494G>T (p.Gly165Val)
c.416G>T (p.Gly139Val)
c.431G>T (p.Gly144Val)
n.572G>T
 gnomAD v4
16g.20348954C>GCA394986359UMODc.347G>C (p.Gly116Ala)
c.446G>C (p.Gly149Ala)
c.494G>C (p.Gly165Ala)
c.416G>C (p.Gly139Ala)
c.431G>C (p.Gly144Ala)
n.572G>C
16g.20348954C>TCA394986362UMODc.347G>A (p.Gly116Glu)
c.446G>A (p.Gly149Glu)
c.494G>A (p.Gly165Glu)
c.416G>A (p.Gly139Glu)
c.431G>A (p.Gly144Glu)
n.572G>A
 gnomAD v4
16g.20348955C>ACA394986365UMODc.346G>T (p.Gly116Trp)
c.445G>T (p.Gly149Trp)
c.493G>T (p.Gly165Trp)
c.415G>T (p.Gly139Trp)
c.430G>T (p.Gly144Trp)
n.571G>T
 gnomAD v4 COSMIC COSMIC
16g.20348955C=CA2211943204UMODc.346G= (p.Gly116=)
c.445G= (p.Gly149=)
c.493G= (p.Gly165=)
c.415G= (p.Gly139=)
c.430G= (p.Gly144=)
n.571G=
16g.20348955C>GCA279300074UMODc.346G>C (p.Gly116Arg)
c.445G>C (p.Gly149Arg)
c.493G>C (p.Gly165Arg)
c.415G>C (p.Gly139Arg)
c.430G>C (p.Gly144Arg)
n.571G>C
 dbSNP gnomAD v4
16g.20348955C>TCA279300078UMODc.346G>A (p.Gly116Arg)
c.445G>A (p.Gly149Arg)
c.493G>A (p.Gly165Arg)
c.415G>A (p.Gly139Arg)
c.430G>A (p.Gly144Arg)
n.571G>A
 ClinVar dbSNP gnomAD v2
16g.20348956A>CCA494096924UMODc.345T>G (p.Pro115=)
c.444T>G (p.Pro148=)
c.492T>G (p.Pro164=)
c.414T>G (p.Pro138=)
c.429T>G (p.Pro143=)
n.570T>G
16g.20348956A>GCA494096922UMODc.345T>C (p.Pro115=)
c.444T>C (p.Pro148=)
c.492T>C (p.Pro164=)
c.414T>C (p.Pro138=)
c.429T>C (p.Pro143=)
n.570T>C
 gnomAD v4
16g.20348956A>TCA494096921UMODc.345T>A (p.Pro115=)
c.444T>A (p.Pro148=)
c.492T>A (p.Pro164=)
c.414T>A (p.Pro138=)
c.429T>A (p.Pro143=)
n.570T>A
 gnomAD v4
16g.20348957G>ACA394986376UMODc.344C>T (p.Pro115Leu)
c.443C>T (p.Pro148Leu)
c.491C>T (p.Pro164Leu)
c.413C>T (p.Pro138Leu)
c.428C>T (p.Pro143Leu)
n.569C>T
 gnomAD v4
16g.20348957G>CCA394986373UMODc.344C>G (p.Pro115Arg)
c.443C>G (p.Pro148Arg)
c.491C>G (p.Pro164Arg)
c.413C>G (p.Pro138Arg)
c.428C>G (p.Pro143Arg)
n.569C>G
16g.20348957G>TCA394986371UMODc.344C>A (p.Pro115His)
c.443C>A (p.Pro148His)
c.491C>A (p.Pro164His)
c.413C>A (p.Pro138His)
c.428C>A (p.Pro143His)
n.569C>A
 gnomAD v4
16g.20348958G>ACA394986379UMODc.343C>T (p.Pro115Ser)
c.442C>T (p.Pro148Ser)
c.490C>T (p.Pro164Ser)
c.412C>T (p.Pro138Ser)
c.427C>T (p.Pro143Ser)
n.568C>T
 gnomAD v4
16g.20348958G>CCA394986381UMODc.343C>G (p.Pro115Ala)
c.442C>G (p.Pro148Ala)
c.490C>G (p.Pro164Ala)
c.412C>G (p.Pro138Ala)
c.427C>G (p.Pro143Ala)
n.568C>G
16g.20348958G=CA2211943210UMODc.343C= (p.Pro115=)
c.442C= (p.Pro148=)
c.490C= (p.Pro164=)
c.412C= (p.Pro138=)
c.427C= (p.Pro143=)
n.568C=
16g.20348958G>TCA7939458UMODc.343C>A (p.Pro115Thr)
c.442C>A (p.Pro148Thr)
c.490C>A (p.Pro164Thr)
c.412C>A (p.Pro138Thr)
c.427C>A (p.Pro143Thr)
n.568C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348959C>ACA394986386UMODc.342G>T (p.Glu114Asp)
c.441G>T (p.Glu147Asp)
c.489G>T (p.Glu163Asp)
c.411G>T (p.Glu137Asp)
c.426G>T (p.Glu142Asp)
n.567G>T
 dbSNP gnomAD v4
16g.20348959C=CA2211943217UMODc.342G= (p.Glu114=)
c.441G= (p.Glu147=)
c.489G= (p.Glu163=)
c.411G= (p.Glu137=)
c.426G= (p.Glu142=)
n.567G=
16g.20348959C>GCA394986389UMODc.342G>C (p.Glu114Asp)
c.441G>C (p.Glu147Asp)
c.489G>C (p.Glu163Asp)
c.411G>C (p.Glu137Asp)
c.426G>C (p.Glu142Asp)
n.567G>C
16g.20348959C>TCA494096929UMODc.342G>A (p.Glu114=)
c.441G>A (p.Glu147=)
c.489G>A (p.Glu163=)
c.411G>A (p.Glu137=)
c.426G>A (p.Glu142=)
n.567G>A
 dbSNP gnomAD v4
16g.20348960T>ACA394986394UMODc.341A>T (p.Glu114Val)
c.440A>T (p.Glu147Val)
c.488A>T (p.Glu163Val)
c.410A>T (p.Glu137Val)
c.425A>T (p.Glu142Val)
n.566A>T
16g.20348960T>CCA394986396UMODc.341A>G (p.Glu114Gly)
c.440A>G (p.Glu147Gly)
c.488A>G (p.Glu163Gly)
c.410A>G (p.Glu137Gly)
c.425A>G (p.Glu142Gly)
n.566A>G
16g.20348960T>GCA394986399UMODc.341A>C (p.Glu114Ala)
c.440A>C (p.Glu147Ala)
c.488A>C (p.Glu163Ala)
c.410A>C (p.Glu137Ala)
c.425A>C (p.Glu142Ala)
n.566A>C
16g.20348961C>ACA394986401UMODc.340G>T (p.Glu114Ter)
c.439G>T (p.Glu147Ter)
c.487G>T (p.Glu163Ter)
c.409G>T (p.Glu137Ter)
c.424G>T (p.Glu142Ter)
n.565G>T
 gnomAD v4
16g.20348961C=CA2211943218UMODc.340G= (p.Glu114=)
c.439G= (p.Glu147=)
c.487G= (p.Glu163=)
c.409G= (p.Glu137=)
c.424G= (p.Glu142=)
n.565G=
16g.20348961C>GCA394986404UMODc.340G>C (p.Glu114Gln)
c.439G>C (p.Glu147Gln)
c.487G>C (p.Glu163Gln)
c.409G>C (p.Glu137Gln)
c.424G>C (p.Glu142Gln)
n.565G>C
16g.20348961C>TCA394986408UMODc.340G>A (p.Glu114Lys)
c.439G>A (p.Glu147Lys)
c.487G>A (p.Glu163Lys)
c.409G>A (p.Glu137Lys)
c.424G>A (p.Glu142Lys)
n.565G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348962A=CA2211943221UMODc.339T= (p.Ala113=)
c.438T= (p.Ala146=)
c.486T= (p.Ala162=)
c.408T= (p.Ala136=)
c.423T= (p.Ala141=)
n.564T=
16g.20348962A>CCA494096934UMODc.339T>G (p.Ala113=)
c.438T>G (p.Ala146=)
c.486T>G (p.Ala162=)
c.408T>G (p.Ala136=)
c.423T>G (p.Ala141=)
n.564T>G
16g.20348962A>GCA279300088UMODc.339T>C (p.Ala113=)
c.438T>C (p.Ala146=)
c.486T>C (p.Ala162=)
c.408T>C (p.Ala136=)
c.423T>C (p.Ala141=)
n.564T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348962A>TCA494096935UMODc.339T>A (p.Ala113=)
c.438T>A (p.Ala146=)
c.486T>A (p.Ala162=)
c.408T>A (p.Ala136=)
c.423T>A (p.Ala141=)
n.564T>A
16g.20348963G>ACA394986413UMODc.338C>T (p.Ala113Val)
c.437C>T (p.Ala146Val)
c.485C>T (p.Ala162Val)
c.407C>T (p.Ala136Val)
c.422C>T (p.Ala141Val)
n.563C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348963G>CCA394986415UMODc.338C>G (p.Ala113Gly)
c.437C>G (p.Ala146Gly)
c.485C>G (p.Ala162Gly)
c.407C>G (p.Ala136Gly)
c.422C>G (p.Ala141Gly)
n.563C>G
16g.20348963G=CA2211943226UMODc.338C= (p.Ala113=)
c.437C= (p.Ala146=)
c.485C= (p.Ala162=)
c.407C= (p.Ala136=)
c.422C= (p.Ala141=)
n.563C=
16g.20348963G>TCA394986409UMODc.338C>A (p.Ala113Asp)
c.437C>A (p.Ala146Asp)
c.485C>A (p.Ala162Asp)
c.407C>A (p.Ala136Asp)
c.422C>A (p.Ala141Asp)
n.563C>A
 gnomAD v4
16g.20348964C>ACA394986418UMODc.337G>T (p.Ala113Ser)
c.436G>T (p.Ala146Ser)
c.484G>T (p.Ala162Ser)
c.406G>T (p.Ala136Ser)
c.421G>T (p.Ala141Ser)
n.562G>T
 gnomAD v4
16g.20348964C=CA2211943238UMODc.337G= (p.Ala113=)
c.436G= (p.Ala146=)
c.484G= (p.Ala162=)
c.406G= (p.Ala136=)
c.421G= (p.Ala141=)
n.562G=
16g.20348964C>GCA394986421UMODc.337G>C (p.Ala113Pro)
c.436G>C (p.Ala146Pro)
c.484G>C (p.Ala162Pro)
c.406G>C (p.Ala136Pro)
c.421G>C (p.Ala141Pro)
n.562G>C
16g.20348964C>TCA279300091UMODc.337G>A (p.Ala113Thr)
c.436G>A (p.Ala146Thr)
c.484G>A (p.Ala162Thr)
c.406G>A (p.Ala136Thr)
c.421G>A (p.Ala141Thr)
n.562G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348965G>ACA494096946UMODc.336C>T (p.Cys112=)
c.435C>T (p.Cys145=)
c.483C>T (p.Cys161=)
c.405C>T (p.Cys135=)
c.420C>T (p.Cys140=)
n.561C>T
 gnomAD v4 COSMIC COSMIC
16g.20348965G>CCA394986425UMODc.336C>G (p.Cys112Trp)
c.435C>G (p.Cys145Trp)
c.483C>G (p.Cys161Trp)
c.405C>G (p.Cys135Trp)
c.420C>G (p.Cys140Trp)
n.561C>G
16g.20348965G>TCA394986429UMODc.336C>A (p.Cys112Ter)
c.435C>A (p.Cys145Ter)
c.483C>A (p.Cys161Ter)
c.405C>A (p.Cys135Ter)
c.420C>A (p.Cys140Ter)
n.561C>A
 gnomAD v4
16g.20348966C>ACA394986441UMODc.335G>T (p.Cys112Phe)
c.434G>T (p.Cys145Phe)
c.482G>T (p.Cys161Phe)
c.404G>T (p.Cys135Phe)
c.419G>T (p.Cys140Phe)
n.560G>T
 gnomAD v4
16g.20348966C>GCA394986443UMODc.335G>C (p.Cys112Ser)
c.434G>C (p.Cys145Ser)
c.482G>C (p.Cys161Ser)
c.404G>C (p.Cys135Ser)
c.419G>C (p.Cys140Ser)
n.560G>C
16g.20348966C>TCA394986458UMODc.335G>A (p.Cys112Tyr)
c.434G>A (p.Cys145Tyr)
c.482G>A (p.Cys161Tyr)
c.404G>A (p.Cys135Tyr)
c.419G>A (p.Cys140Tyr)
n.560G>A
 ClinVar dbSNP
16g.20348967A>CCA394986460UMODc.334T>G (p.Cys112Gly)
c.433T>G (p.Cys145Gly)
c.481T>G (p.Cys161Gly)
c.403T>G (p.Cys135Gly)
c.418T>G (p.Cys140Gly)
n.559T>G
 gnomAD v4
16g.20348967A>GCA394986465UMODc.334T>C (p.Cys112Arg)
c.433T>C (p.Cys145Arg)
c.481T>C (p.Cys161Arg)
c.403T>C (p.Cys135Arg)
c.418T>C (p.Cys140Arg)
n.559T>C
16g.20348967A>TCA394986466UMODc.334T>A (p.Cys112Ser)
c.433T>A (p.Cys145Ser)
c.481T>A (p.Cys161Ser)
c.403T>A (p.Cys135Ser)
c.418T>A (p.Cys140Ser)
n.559T>A
16g.20348968C>ACA394986482UMODc.333G>T (p.Glu111Asp)
c.432G>T (p.Glu144Asp)
c.480G>T (p.Glu160Asp)
c.402G>T (p.Glu134Asp)
c.417G>T (p.Glu139Asp)
n.558G>T
 gnomAD v4
16g.20348968C=CA2211943246UMODc.333G= (p.Glu111=)
c.432G= (p.Glu144=)
c.480G= (p.Glu160=)
c.402G= (p.Glu134=)
c.417G= (p.Glu139=)
n.558G=
16g.20348968C>GCA394986485UMODc.333G>C (p.Glu111Asp)
c.432G>C (p.Glu144Asp)
c.480G>C (p.Glu160Asp)
c.402G>C (p.Glu134Asp)
c.417G>C (p.Glu139Asp)
n.558G>C
16g.20348968C>TCA7939459UMODc.333G>A (p.Glu111=)
c.432G>A (p.Glu144=)
c.480G>A (p.Glu160=)
c.402G>A (p.Glu134=)
c.417G>A (p.Glu139=)
n.558G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348969T>ACA394986495UMODc.332A>T (p.Glu111Val)
c.431A>T (p.Glu144Val)
c.479A>T (p.Glu160Val)
c.401A>T (p.Glu134Val)
c.416A>T (p.Glu139Val)
n.557A>T
16g.20348969T>CCA394986497UMODc.332A>G (p.Glu111Gly)
c.431A>G (p.Glu144Gly)
c.479A>G (p.Glu160Gly)
c.401A>G (p.Glu134Gly)
c.416A>G (p.Glu139Gly)
n.557A>G
16g.20348969T>GCA394986502UMODc.332A>C (p.Glu111Ala)
c.431A>C (p.Glu144Ala)
c.479A>C (p.Glu160Ala)
c.401A>C (p.Glu134Ala)
c.416A>C (p.Glu139Ala)
n.557A>C
16g.20348970C>ACA394986505UMODc.331G>T (p.Glu111Ter)
c.430G>T (p.Glu144Ter)
c.478G>T (p.Glu160Ter)
c.400G>T (p.Glu134Ter)
c.415G>T (p.Glu139Ter)
n.556G>T
 gnomAD v4
16g.20348970C>GCA394986509UMODc.331G>C (p.Glu111Gln)
c.430G>C (p.Glu144Gln)
c.478G>C (p.Glu160Gln)
c.400G>C (p.Glu134Gln)
c.415G>C (p.Glu139Gln)
n.556G>C
16g.20348970C>TCA394986511UMODc.331G>A (p.Glu111Lys)
c.430G>A (p.Glu144Lys)
c.478G>A (p.Glu160Lys)
c.400G>A (p.Glu134Lys)
c.415G>A (p.Glu139Lys)
n.556G>A
16g.20348970_20348975delinsCATCCACA2211943251UMODc.326_331delinsTGGATG (p.Val109=)
c.425_430delinsTGGATG (p.Val142=)
c.473_478delinsTGGATG (p.Val158=)
c.395_400delinsTGGATG (p.Val132=)
c.410_415delinsTGGATG (p.Val137=)
n.551_556delinsTGGATG
16g.20348971A=CA2211943254UMODc.330T= (p.Asp110=)
c.429T= (p.Asp143=)
c.477T= (p.Asp159=)
c.399T= (p.Asp133=)
c.414T= (p.Asp138=)
n.555T=
16g.20348971A>CCA394986513UMODc.330T>G (p.Asp110Glu)
c.429T>G (p.Asp143Glu)
c.477T>G (p.Asp159Glu)
c.399T>G (p.Asp133Glu)
c.414T>G (p.Asp138Glu)
n.555T>G
 dbSNP gnomAD v4
16g.20348971A>GCA494096964UMODc.330T>C (p.Asp110=)
c.429T>C (p.Asp143=)
c.477T>C (p.Asp159=)
c.399T>C (p.Asp133=)
c.414T>C (p.Asp138=)
n.555T>C
16g.20348971A>TCA394986516UMODc.330T>A (p.Asp110Glu)
c.429T>A (p.Asp143Glu)
c.477T>A (p.Asp159Glu)
c.399T>A (p.Asp133Glu)
c.414T>A (p.Asp138Glu)
n.555T>A
16g.20348971_20348975delCA2211943257UMODc.326_330del (p.Val109GlyfsTer4)
c.326_330del (p.Val109=)
c.425_429del (p.Val142GlyfsTer4)
c.473_477del (p.Val158GlyfsTer4)
c.395_399del (p.Val132GlyfsTer4)
c.410_414del (p.Val137=)
c.410_414del (p.Val137GlyfsTer4)
n.551_555del
 dbSNP gnomAD v4
16g.20348972T>ACA394986519UMODc.329A>T (p.Asp110Val)
c.428A>T (p.Asp143Val)
c.476A>T (p.Asp159Val)
c.398A>T (p.Asp133Val)
c.413A>T (p.Asp138Val)
n.554A>T
 gnomAD v4
16g.20348972T>CCA394986520UMODc.329A>G (p.Asp110Gly)
c.428A>G (p.Asp143Gly)
c.476A>G (p.Asp159Gly)
c.398A>G (p.Asp133Gly)
c.413A>G (p.Asp138Gly)
n.554A>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348972T>GCA394986523UMODc.329A>C (p.Asp110Ala)
c.428A>C (p.Asp143Ala)
c.476A>C (p.Asp159Ala)
c.398A>C (p.Asp133Ala)
c.413A>C (p.Asp138Ala)
n.554A>C
16g.20348972T=CA2211943259UMODc.329A= (p.Asp110=)
c.428A= (p.Asp143=)
c.476A= (p.Asp159=)
c.398A= (p.Asp133=)
c.413A= (p.Asp138=)
n.554A=
16g.20348973C>ACA394986527UMODc.328G>T (p.Asp110Tyr)
c.427G>T (p.Asp143Tyr)
c.475G>T (p.Asp159Tyr)
c.397G>T (p.Asp133Tyr)
c.412G>T (p.Asp138Tyr)
n.553G>T
 gnomAD v4
16g.20348973C=CA2211943265UMODc.328G= (p.Asp110=)
c.427G= (p.Asp143=)
c.475G= (p.Asp159=)
c.397G= (p.Asp133=)
c.412G= (p.Asp138=)
n.553G=
16g.20348973C>GCA394986535UMODc.328G>C (p.Asp110His)
c.427G>C (p.Asp143His)
c.475G>C (p.Asp159His)
c.397G>C (p.Asp133His)
c.412G>C (p.Asp138His)
n.553G>C
16g.20348973C>TCA394986538UMODc.328G>A (p.Asp110Asn)
c.427G>A (p.Asp143Asn)
c.475G>A (p.Asp159Asn)
c.397G>A (p.Asp133Asn)
c.412G>A (p.Asp138Asn)
n.553G>A
 dbSNP gnomAD v4
16g.20348974C>ACA494096968UMODc.327G>T (p.Val109=)
c.426G>T (p.Val142=)
c.474G>T (p.Val158=)
c.396G>T (p.Val132=)
c.411G>T (p.Val137=)
n.552G>T
 gnomAD v4
16g.20348974C>GCA494096970UMODc.327G>C (p.Val109=)
c.426G>C (p.Val142=)
c.474G>C (p.Val158=)
c.396G>C (p.Val132=)
c.411G>C (p.Val137=)
n.552G>C
16g.20348974C>TCA494096973UMODc.327G>A (p.Val109=)
c.426G>A (p.Val142=)
c.474G>A (p.Val158=)
c.396G>A (p.Val132=)
c.411G>A (p.Val137=)
n.552G>A
16g.20348975A=CA2211943276UMODc.326T= (p.Val109=)
c.425T= (p.Val142=)
c.473T= (p.Val158=)
c.395T= (p.Val132=)
c.410T= (p.Val137=)
n.551T=
16g.20348975A>CCA394986539UMODc.326T>G (p.Val109Gly)
c.425T>G (p.Val142Gly)
c.473T>G (p.Val158Gly)
c.395T>G (p.Val132Gly)
c.410T>G (p.Val137Gly)
n.551T>G
16g.20348975A>GCA394986540UMODc.326T>C (p.Val109Ala)
c.425T>C (p.Val142Ala)
c.473T>C (p.Val158Ala)
c.395T>C (p.Val132Ala)
c.410T>C (p.Val137Ala)
n.551T>C
 gnomAD v4 COSMIC COSMIC
16g.20348975A>TCA7939460UMODc.326T>A (p.Val109Glu)
c.425T>A (p.Val142Glu)
c.473T>A (p.Val158Glu)
c.395T>A (p.Val132Glu)
c.410T>A (p.Val137Glu)
n.551T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348976C>ACA7939461UMODc.325G>T (p.Val109Leu)
c.424G>T (p.Val142Leu)
c.472G>T (p.Val158Leu)
c.394G>T (p.Val132Leu)
c.409G>T (p.Val137Leu)
n.550G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348976C=CA2211943283UMODc.325G= (p.Val109=)
c.424G= (p.Val142=)
c.472G= (p.Val158=)
c.394G= (p.Val132=)
c.409G= (p.Val137=)
n.550G=
16g.20348976C>GCA394986541UMODc.325G>C (p.Val109Leu)
c.424G>C (p.Val142Leu)
c.472G>C (p.Val158Leu)
c.394G>C (p.Val132Leu)
c.409G>C (p.Val137Leu)
n.550G>C
 dbSNP gnomAD v4
16g.20348976C>TCA394986542UMODc.325G>A (p.Val109Met)
c.424G>A (p.Val142Met)
c.472G>A (p.Val158Met)
c.394G>A (p.Val132Met)
c.409G>A (p.Val137Met)
n.550G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348977G>ACA494096976UMODc.324C>T (p.Asp108=)
c.423C>T (p.Asp141=)
c.471C>T (p.Asp157=)
c.393C>T (p.Asp131=)
c.408C>T (p.Asp136=)
n.549C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348977G>CCA394986545UMODc.324C>G (p.Asp108Glu)
c.423C>G (p.Asp141Glu)
c.471C>G (p.Asp157Glu)
c.393C>G (p.Asp131Glu)
c.408C>G (p.Asp136Glu)
n.549C>G
 gnomAD v4
16g.20348977G=CA2211943289UMODc.324C= (p.Asp108=)
c.423C= (p.Asp141=)
c.471C= (p.Asp157=)
c.393C= (p.Asp131=)
c.408C= (p.Asp136=)
n.549C=
16g.20348977G>TCA394986550UMODc.324C>A (p.Asp108Glu)
c.423C>A (p.Asp141Glu)
c.471C>A (p.Asp157Glu)
c.393C>A (p.Asp131Glu)
c.408C>A (p.Asp136Glu)
n.549C>A
 gnomAD v4
16g.20348978T>ACA394986554UMODc.323A>T (p.Asp108Val)
c.422A>T (p.Asp141Val)
c.470A>T (p.Asp157Val)
c.392A>T (p.Asp131Val)
c.407A>T (p.Asp136Val)
n.548A>T
16g.20348978T>CCA394986558UMODc.323A>G (p.Asp108Gly)
c.422A>G (p.Asp141Gly)
c.470A>G (p.Asp157Gly)
c.392A>G (p.Asp131Gly)
c.407A>G (p.Asp136Gly)
n.548A>G
16g.20348978T>GCA394986566UMODc.323A>C (p.Asp108Ala)
c.422A>C (p.Asp141Ala)
c.470A>C (p.Asp157Ala)
c.392A>C (p.Asp131Ala)
c.407A>C (p.Asp136Ala)
n.548A>C
16g.20348979C>ACA394986569UMODc.322G>T (p.Asp108Tyr)
c.421G>T (p.Asp141Tyr)
c.469G>T (p.Asp157Tyr)
c.391G>T (p.Asp131Tyr)
c.406G>T (p.Asp136Tyr)
n.547G>T
 gnomAD v4
16g.20348979C>GCA394986575UMODc.322G>C (p.Asp108His)
c.421G>C (p.Asp141His)
c.469G>C (p.Asp157His)
c.391G>C (p.Asp131His)
c.406G>C (p.Asp136His)
n.547G>C
16g.20348979C>TCA394986577UMODc.322G>A (p.Asp108Asn)
c.421G>A (p.Asp141Asn)
c.469G>A (p.Asp157Asn)
c.391G>A (p.Asp131Asn)
c.406G>A (p.Asp136Asn)
n.547G>A
16g.20348980T>ACA494096986UMODc.321A>T (p.Thr107=)
c.420A>T (p.Thr140=)
c.468A>T (p.Thr156=)
c.390A>T (p.Thr130=)
c.483A>T (p.Thr161=)
c.405A>T (p.Thr135=)
n.546A>T
16g.20348980T>CCA494096989UMODc.321A>G (p.Thr107=)
c.420A>G (p.Thr140=)
c.468A>G (p.Thr156=)
c.390A>G (p.Thr130=)
c.483A>G (p.Thr161=)
c.405A>G (p.Thr135=)
n.546A>G
 gnomAD v4
16g.20348980T>GCA494096992UMODc.321A>C (p.Thr107=)
c.420A>C (p.Thr140=)
c.468A>C (p.Thr156=)
c.390A>C (p.Thr130=)
c.483A>C (p.Thr161=)
c.405A>C (p.Thr135=)
n.546A>C
 dbSNP
16g.20348981G>ACA394986579UMODc.320C>T (p.Thr107Ile)
c.419C>T (p.Thr140Ile)
c.467C>T (p.Thr156Ile)
c.389C>T (p.Thr130Ile)
c.482C>T (p.Thr161Ile)
c.404C>T (p.Thr135Ile)
n.545C>T
 gnomAD v4
16g.20348981G>CCA394986582UMODc.320C>G (p.Thr107Arg)
c.419C>G (p.Thr140Arg)
c.467C>G (p.Thr156Arg)
c.389C>G (p.Thr130Arg)
c.482C>G (p.Thr161Arg)
c.404C>G (p.Thr135Arg)
n.545C>G
16g.20348981G>TCA394986584UMODc.320C>A (p.Thr107Lys)
c.419C>A (p.Thr140Lys)
c.467C>A (p.Thr156Lys)
c.389C>A (p.Thr130Lys)
c.482C>A (p.Thr161Lys)
c.404C>A (p.Thr135Lys)
n.545C>A
16g.20348982T>ACA394986587UMODc.319A>T (p.Thr107Ser)
c.418A>T (p.Thr140Ser)
c.466A>T (p.Thr156Ser)
c.388A>T (p.Thr130Ser)
c.481A>T (p.Thr161Ser)
c.403A>T (p.Thr135Ser)
n.544A>T
 gnomAD v4
16g.20348982T>CCA7939462UMODc.319A>G (p.Thr107Ala)
c.418A>G (p.Thr140Ala)
c.466A>G (p.Thr156Ala)
c.388A>G (p.Thr130Ala)
c.481A>G (p.Thr161Ala)
c.403A>G (p.Thr135Ala)
n.544A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.20348982T>GCA394986589UMODc.319A>C (p.Thr107Pro)
c.418A>C (p.Thr140Pro)
c.466A>C (p.Thr156Pro)
c.388A>C (p.Thr130Pro)
c.481A>C (p.Thr161Pro)
c.403A>C (p.Thr135Pro)
n.544A>C
16g.20348982T=CA2211943296UMODc.319A= (p.Thr107=)
c.418A= (p.Thr140=)
c.466A= (p.Thr156=)
c.388A= (p.Thr130=)
c.481A= (p.Thr161=)
c.403A= (p.Thr135=)
n.544A=
16g.20348983G>ACA494097000UMODc.318C>T (p.Cys106=)
c.417C>T (p.Cys139=)
c.465C>T (p.Cys155=)
c.387C>T (p.Cys129=)
c.480C>T (p.Cys160=)
c.402C>T (p.Cys134=)
n.543C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348983G>CCA394986596UMODc.318C>G (p.Cys106Trp)
c.417C>G (p.Cys139Trp)
c.465C>G (p.Cys155Trp)
c.387C>G (p.Cys129Trp)
c.480C>G (p.Cys160Trp)
c.402C>G (p.Cys134Trp)
n.543C>G
16g.20348983G=CA2211943304UMODc.318C= (p.Cys106=)
c.417C= (p.Cys139=)
c.465C= (p.Cys155=)
c.387C= (p.Cys129=)
c.480C= (p.Cys160=)
c.402C= (p.Cys134=)
n.543C=
16g.20348983G>TCA394986597UMODc.318C>A (p.Cys106Ter)
c.417C>A (p.Cys139Ter)
c.465C>A (p.Cys155Ter)
c.387C>A (p.Cys129Ter)
c.480C>A (p.Cys160Ter)
c.402C>A (p.Cys134Ter)
n.543C>A
16g.20348984C>ACA221976UMODc.317G>T (p.Cys106Phe)
c.416G>T (p.Cys139Phe)
c.464G>T (p.Cys155Phe)
c.386G>T (p.Cys129Phe)
c.479G>T (p.Cys160Phe)
c.401G>T (p.Cys134Phe)
n.542G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348984C=CA2211943311UMODc.317G= (p.Cys106=)
c.416G= (p.Cys139=)
c.464G= (p.Cys155=)
c.386G= (p.Cys129=)
c.479G= (p.Cys160=)
c.401G= (p.Cys134=)
n.542G=
16g.20348984C>GCA394986602UMODc.317G>C (p.Cys106Ser)
c.416G>C (p.Cys139Ser)
c.464G>C (p.Cys155Ser)
c.386G>C (p.Cys129Ser)
c.479G>C (p.Cys160Ser)
c.401G>C (p.Cys134Ser)
n.542G>C
16g.20348984C>TCA394986605UMODc.317G>A (p.Cys106Tyr)
c.416G>A (p.Cys139Tyr)
c.464G>A (p.Cys155Tyr)
c.386G>A (p.Cys129Tyr)
c.479G>A (p.Cys160Tyr)
c.401G>A (p.Cys134Tyr)
n.542G>A
 ClinVar dbSNP gnomAD v4
16g.20348985delCA2573332232UMODc.316del (p.Cys106AlafsTer?)
c.415del (p.Cys139AlafsTer?)
c.463del (p.Cys155AlafsTer?)
c.385del (p.Cys129AlafsTer?)
c.478del (p.Cys160AlafsTer?)
c.400del (p.Cys134AlafsTer?)
n.541del
16g.20348985A>CCA394986608UMODc.316T>G (p.Cys106Gly)
c.415T>G (p.Cys139Gly)
c.463T>G (p.Cys155Gly)
c.385T>G (p.Cys129Gly)
c.478T>G (p.Cys160Gly)
c.400T>G (p.Cys134Gly)
n.541T>G
16g.20348985A>GCA394986616UMODc.316T>C (p.Cys106Arg)
c.415T>C (p.Cys139Arg)
c.463T>C (p.Cys155Arg)
c.385T>C (p.Cys129Arg)
c.478T>C (p.Cys160Arg)
c.400T>C (p.Cys134Arg)
n.541T>C
16g.20348985A>TCA394986619UMODc.316T>A (p.Cys106Ser)
c.415T>A (p.Cys139Ser)
c.463T>A (p.Cys155Ser)
c.385T>A (p.Cys129Ser)
c.478T>A (p.Cys160Ser)
c.400T>A (p.Cys134Ser)
n.541T>A
16g.20348986G>ACA494097005UMODc.315C>T (p.Gly105=)
c.414C>T (p.Gly138=)
c.462C>T (p.Gly154=)
c.384C>T (p.Gly128=)
c.477C>T (p.Gly159=)
c.399C>T (p.Gly133=)
n.540C>T
16g.20348986G>CCA494097006UMODc.315C>G (p.Gly105=)
c.414C>G (p.Gly138=)
c.462C>G (p.Gly154=)
c.384C>G (p.Gly128=)
c.477C>G (p.Gly159=)
c.399C>G (p.Gly133=)
n.540C>G
16g.20348986G>TCA494097007UMODc.315C>A (p.Gly105=)
c.414C>A (p.Gly138=)
c.462C>A (p.Gly154=)
c.384C>A (p.Gly128=)
c.477C>A (p.Gly159=)
c.399C>A (p.Gly133=)
n.540C>A
 gnomAD v4
16g.20348987C>ACA394986621UMODc.314G>T (p.Gly105Val)
c.413G>T (p.Gly138Val)
c.461G>T (p.Gly154Val)
c.383G>T (p.Gly128Val)
c.476G>T (p.Gly159Val)
c.398G>T (p.Gly133Val)
n.539G>T
 gnomAD v4
16g.20348987C=CA2211943319UMODc.314G= (p.Gly105=)
c.413G= (p.Gly138=)
c.461G= (p.Gly154=)
c.383G= (p.Gly128=)
c.476G= (p.Gly159=)
c.398G= (p.Gly133=)
n.539G=
16g.20348987C>GCA394986625UMODc.314G>C (p.Gly105Ala)
c.413G>C (p.Gly138Ala)
c.461G>C (p.Gly154Ala)
c.383G>C (p.Gly128Ala)
c.476G>C (p.Gly159Ala)
c.398G>C (p.Gly133Ala)
n.539G>C
16g.20348987C>TCA394986626UMODc.314G>A (p.Gly105Asp)
c.413G>A (p.Gly138Asp)
c.461G>A (p.Gly154Asp)
c.383G>A (p.Gly128Asp)
c.476G>A (p.Gly159Asp)
c.398G>A (p.Gly133Asp)
n.539G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348988C>ACA394986631UMODc.313G>T (p.Gly105Cys)
c.412G>T (p.Gly138Cys)
c.460G>T (p.Gly154Cys)
c.382G>T (p.Gly128Cys)
c.475G>T (p.Gly159Cys)
c.397G>T (p.Gly133Cys)
n.538G>T
 ClinVar dbSNP gnomAD v4
16g.20348988C=CA2211943324UMODc.313G= (p.Gly105=)
c.412G= (p.Gly138=)
c.460G= (p.Gly154=)
c.382G= (p.Gly128=)
c.475G= (p.Gly159=)
c.397G= (p.Gly133=)
n.538G=
16g.20348988C>GCA7939463UMODc.313G>C (p.Gly105Arg)
c.412G>C (p.Gly138Arg)
c.460G>C (p.Gly154Arg)
c.382G>C (p.Gly128Arg)
c.475G>C (p.Gly159Arg)
c.397G>C (p.Gly133Arg)
n.538G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348988C>TCA394986627UMODc.313G>A (p.Gly105Ser)
c.412G>A (p.Gly138Ser)
c.460G>A (p.Gly154Ser)
c.382G>A (p.Gly128Ser)
c.475G>A (p.Gly159Ser)
c.397G>A (p.Gly133Ser)
n.538G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348989G>ACA279300116UMODc.312C>T (p.Leu104=)
c.411C>T (p.Leu137=)
c.459C>T (p.Leu153=)
c.381C>T (p.Leu127=)
c.474C>T (p.Leu158=)
c.396C>T (p.Leu132=)
n.537C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348989G>CCA494097015UMODc.312C>G (p.Leu104=)
c.411C>G (p.Leu137=)
c.459C>G (p.Leu153=)
c.381C>G (p.Leu127=)
c.474C>G (p.Leu158=)
c.396C>G (p.Leu132=)
n.537C>G
 COSMIC
16g.20348989G=CA2211943327UMODc.312C= (p.Leu104=)
c.411C= (p.Leu137=)
c.459C= (p.Leu153=)
c.381C= (p.Leu127=)
c.474C= (p.Leu158=)
c.396C= (p.Leu132=)
n.537C=
16g.20348989G>TCA494097017UMODc.312C>A (p.Leu104=)
c.411C>A (p.Leu137=)
c.459C>A (p.Leu153=)
c.381C>A (p.Leu127=)
c.474C>A (p.Leu158=)
c.396C>A (p.Leu132=)
n.537C>A
 gnomAD v4
16g.20348990A>CCA394986634UMODc.311T>G (p.Leu104Arg)
c.410T>G (p.Leu137Arg)
c.458T>G (p.Leu153Arg)
c.380T>G (p.Leu127Arg)
c.473T>G (p.Leu158Arg)
c.395T>G (p.Leu132Arg)
n.536T>G
16g.20348990A>GCA394986636UMODc.311T>C (p.Leu104Pro)
c.410T>C (p.Leu137Pro)
c.458T>C (p.Leu153Pro)
c.380T>C (p.Leu127Pro)
c.473T>C (p.Leu158Pro)
c.395T>C (p.Leu132Pro)
n.536T>C
16g.20348990A>TCA394986639UMODc.311T>A (p.Leu104His)
c.410T>A (p.Leu137His)
c.458T>A (p.Leu153His)
c.380T>A (p.Leu127His)
c.473T>A (p.Leu158His)
c.395T>A (p.Leu132His)
n.536T>A
16g.20348991G>ACA394986641UMODc.310C>T (p.Leu104Phe)
c.409C>T (p.Leu137Phe)
c.457C>T (p.Leu153Phe)
c.379C>T (p.Leu127Phe)
c.472C>T (p.Leu158Phe)
c.394C>T (p.Leu132Phe)
n.535C>T
16g.20348991G>CCA394986644UMODc.310C>G (p.Leu104Val)
c.409C>G (p.Leu137Val)
c.457C>G (p.Leu153Val)
c.379C>G (p.Leu127Val)
c.472C>G (p.Leu158Val)
c.394C>G (p.Leu132Val)
n.535C>G
 gnomAD v4 COSMIC COSMIC
16g.20348991G>TCA394986647UMODc.310C>A (p.Leu104Ile)
c.409C>A (p.Leu137Ile)
c.457C>A (p.Leu153Ile)
c.379C>A (p.Leu127Ile)
c.472C>A (p.Leu158Ile)
c.394C>A (p.Leu132Ile)
n.535C>A
 gnomAD v4
16g.20348992A=CA2211943331UMODc.309T= (p.Gly103=)
c.408T= (p.Gly136=)
c.456T= (p.Gly152=)
c.378T= (p.Gly126=)
c.471T= (p.Gly157=)
c.393T= (p.Gly131=)
n.534T=
16g.20348992A>CCA494097022UMODc.309T>G (p.Gly103=)
c.408T>G (p.Gly136=)
c.456T>G (p.Gly152=)
c.378T>G (p.Gly126=)
c.471T>G (p.Gly157=)
c.393T>G (p.Gly131=)
n.534T>G
16g.20348992A>GCA494097023UMODc.309T>C (p.Gly103=)
c.408T>C (p.Gly136=)
c.456T>C (p.Gly152=)
c.378T>C (p.Gly126=)
c.471T>C (p.Gly157=)
c.393T>C (p.Gly131=)
n.534T>C
 dbSNP gnomAD v4
16g.20348992A>TCA494097020UMODc.309T>A (p.Gly103=)
c.408T>A (p.Gly136=)
c.456T>A (p.Gly152=)
c.378T>A (p.Gly126=)
c.471T>A (p.Gly157=)
c.393T>A (p.Gly131=)
n.534T>A
16g.20348992_20348993delCA2520729338UMODc.308_309del (p.Gly103AlafsTer8)
c.308_309del (p.Gly103AlafsTer?)
c.407_408del (p.Gly136AlafsTer8)
c.455_456del (p.Gly152AlafsTer8)
c.377_378del (p.Gly126AlafsTer8)
c.470_471del (p.Gly157AlafsTer?)
c.392_393del (p.Gly131AlafsTer?)
c.392_393del (p.Gly131AlafsTer8)
n.533_534del
16g.20348993C>ACA394986651UMODc.308G>T (p.Gly103Val)
c.407G>T (p.Gly136Val)
c.455G>T (p.Gly152Val)
c.377G>T (p.Gly126Val)
c.470G>T (p.Gly157Val)
c.308G>T
c.392G>T (p.Gly131Val)
n.533G>T
 gnomAD v4
16g.20348993C=CA2211943335UMODc.308G= (p.Gly103=)
c.407G= (p.Gly136=)
c.455G= (p.Gly152=)
c.377G= (p.Gly126=)
c.470G= (p.Gly157=)
c.308G=
c.392G= (p.Gly131=)
n.533G=
16g.20348993C>GCA394986652UMODc.308G>C (p.Gly103Ala)
c.407G>C (p.Gly136Ala)
c.455G>C (p.Gly152Ala)
c.377G>C (p.Gly126Ala)
c.470G>C (p.Gly157Ala)
c.308G>C
c.392G>C (p.Gly131Ala)
n.533G>C
16g.20348993C>TCA394986655UMODc.308G>A (p.Gly103Asp)
c.407G>A (p.Gly136Asp)
c.455G>A (p.Gly152Asp)
c.377G>A (p.Gly126Asp)
c.470G>A (p.Gly157Asp)
c.308G>A
c.392G>A (p.Gly131Asp)
n.533G>A
 ClinVar dbSNP gnomAD v2
16g.20348994C>ACA256242UMODc.307G>T (p.Gly103Cys)
c.406G>T (p.Gly136Cys)
c.454G>T (p.Gly152Cys)
c.376G>T (p.Gly126Cys)
c.469G>T (p.Gly157Cys)
c.307G>T
c.391G>T (p.Gly131Cys)
n.532G>T
 ClinVar dbSNP
16g.20348994C=CA2211943346UMODc.307G= (p.Gly103=)
c.406G= (p.Gly136=)
c.454G= (p.Gly152=)
c.376G= (p.Gly126=)
c.469G= (p.Gly157=)
c.307G=
c.391G= (p.Gly131=)
n.532G=
16g.20348994C>GCA394986659UMODc.307G>C (p.Gly103Arg)
c.406G>C (p.Gly136Arg)
c.454G>C (p.Gly152Arg)
c.376G>C (p.Gly126Arg)
c.469G>C (p.Gly157Arg)
c.307G>C
c.391G>C (p.Gly131Arg)
n.532G>C
 dbSNP gnomAD v4
16g.20348994C>TCA279300127UMODc.307G>A (p.Gly103Ser)
c.406G>A (p.Gly136Ser)
c.454G>A (p.Gly152Ser)
c.376G>A (p.Gly126Ser)
c.469G>A (p.Gly157Ser)
c.307G>A
c.391G>A (p.Gly131Ser)
n.532G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348994_20348995insTCTCA2508132973UMODc.306_307insAGA (p.Pro102_Gly103insArg)
c.405_406insAGA (p.Pro135_Gly136insArg)
c.453_454insAGA (p.Pro151_Gly152insArg)
c.375_376insAGA (p.Pro125_Gly126insArg)
c.468_469insAGA (p.Pro156_Gly157insArg)
c.390_391insAGA (p.Pro130_Gly131insArg)
n.531_532insAGA
16g.20348995G>ACA7939464UMODc.306C>T (p.Pro102=)
c.405C>T (p.Pro135=)
c.453C>T (p.Pro151=)
c.375C>T (p.Pro125=)
c.468C>T (p.Pro156=)
c.390C>T (p.Pro130=)
n.531C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348995G>CCA279300135UMODc.306C>G (p.Pro102=)
c.405C>G (p.Pro135=)
c.453C>G (p.Pro151=)
c.375C>G (p.Pro125=)
c.468C>G (p.Pro156=)
c.390C>G (p.Pro130=)
n.531C>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348995G=CA2211943349UMODc.306C= (p.Pro102=)
c.405C= (p.Pro135=)
c.453C= (p.Pro151=)
c.375C= (p.Pro125=)
c.468C= (p.Pro156=)
c.390C= (p.Pro130=)
n.531C=
16g.20348995G>TCA494097027UMODc.306C>A (p.Pro102=)
c.405C>A (p.Pro135=)
c.453C>A (p.Pro151=)
c.375C>A (p.Pro125=)
c.468C>A (p.Pro156=)
c.390C>A (p.Pro130=)
n.531C>A
 gnomAD v4
16g.20348997delCA2695222877UMODc.306del (p.Gly103ValfsTer?)
c.405del (p.Gly136ValfsTer?)
c.453del (p.Gly152ValfsTer?)
c.375del (p.Gly126ValfsTer?)
c.468del (p.Gly157ValfsTer?)
c.306del (p.Pro102=)
c.390del (p.Gly131ValfsTer?)
n.531del
16g.20348996G>ACA394986672UMODc.305C>T (p.Pro102Leu)
c.404C>T (p.Pro135Leu)
c.452C>T (p.Pro151Leu)
c.374C>T (p.Pro125Leu)
c.467C>T (p.Pro156Leu)
c.389C>T (p.Pro130Leu)
n.530C>T
16g.20348996G>CCA394986671UMODc.305C>G (p.Pro102Arg)
c.404C>G (p.Pro135Arg)
c.452C>G (p.Pro151Arg)
c.374C>G (p.Pro125Arg)
c.467C>G (p.Pro156Arg)
c.389C>G (p.Pro130Arg)
n.530C>G
16g.20348996G>TCA394986668UMODc.305C>A (p.Pro102His)
c.404C>A (p.Pro135His)
c.452C>A (p.Pro151His)
c.374C>A (p.Pro125His)
c.467C>A (p.Pro156His)
c.389C>A (p.Pro130His)
n.530C>A
16g.20348997G>ACA394986675UMODc.304C>T (p.Pro102Ser)
c.403C>T (p.Pro135Ser)
c.451C>T (p.Pro151Ser)
c.373C>T (p.Pro125Ser)
c.466C>T (p.Pro156Ser)
c.388C>T (p.Pro130Ser)
n.529C>T
16g.20348997G>CCA394986679UMODc.304C>G (p.Pro102Ala)
c.403C>G (p.Pro135Ala)
c.451C>G (p.Pro151Ala)
c.373C>G (p.Pro125Ala)
c.466C>G (p.Pro156Ala)
c.388C>G (p.Pro130Ala)
n.529C>G
16g.20348997G>TCA394986681UMODc.304C>A (p.Pro102Thr)
c.403C>A (p.Pro135Thr)
c.451C>A (p.Pro151Thr)
c.373C>A (p.Pro125Thr)
c.466C>A (p.Pro156Thr)
c.388C>A (p.Pro130Thr)
n.529C>A
16g.20348998C>ACA7939465UMODc.303G>T (p.Ser101=)
c.402G>T (p.Ser134=)
c.450G>T (p.Ser150=)
c.372G>T (p.Ser124=)
c.465G>T (p.Ser155=)
c.387G>T (p.Ser129=)
n.528G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348998C=CA2211943355UMODc.303G= (p.Ser101=)
c.402G= (p.Ser134=)
c.450G= (p.Ser150=)
c.372G= (p.Ser124=)
c.465G= (p.Ser155=)
c.387G= (p.Ser129=)
n.528G=
16g.20348998C>GCA494097034UMODc.303G>C (p.Ser101=)
c.402G>C (p.Ser134=)
c.450G>C (p.Ser150=)
c.372G>C (p.Ser124=)
c.465G>C (p.Ser155=)
c.387G>C (p.Ser129=)
n.528G>C
 gnomAD v4
16g.20348998C>TCA7939466UMODc.303G>A (p.Ser101=)
c.402G>A (p.Ser134=)
c.450G>A (p.Ser150=)
c.372G>A (p.Ser124=)
c.465G>A (p.Ser155=)
c.387G>A (p.Ser129=)
n.528G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348999delCA2505722093UMODc.302del (p.Ser101CysfsTer?)
c.401del (p.Ser134CysfsTer?)
c.449del (p.Ser150CysfsTer?)
c.371del (p.Ser124CysfsTer?)
c.464del (p.Ser155CysfsTer?)
c.386del (p.Ser129CysfsTer?)
n.527del
16g.20348999G>ACA394986695UMODc.302C>T (p.Ser101Leu)
c.401C>T (p.Ser134Leu)
c.449C>T (p.Ser150Leu)
c.371C>T (p.Ser124Leu)
c.464C>T (p.Ser155Leu)
c.386C>T (p.Ser129Leu)
n.527C>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348999G>CCA394986696UMODc.302C>G (p.Ser101Trp)
c.401C>G (p.Ser134Trp)
c.449C>G (p.Ser150Trp)
c.371C>G (p.Ser124Trp)
c.464C>G (p.Ser155Trp)
c.386C>G (p.Ser129Trp)
n.527C>G
16g.20348999G=CA2211943362UMODc.302C= (p.Ser101=)
c.401C= (p.Ser134=)
c.449C= (p.Ser150=)
c.371C= (p.Ser124=)
c.464C= (p.Ser155=)
c.386C= (p.Ser129=)
n.527C=
16g.20348999G>TCA394986699UMODc.302C>A (p.Ser101Ter)
c.401C>A (p.Ser134Ter)
c.449C>A (p.Ser150Ter)
c.371C>A (p.Ser124Ter)
c.464C>A (p.Ser155Ter)
c.386C>A (p.Ser129Ter)
n.527C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.20349000A=CA2211943365UMODc.301T= (p.Ser101=)
c.400T= (p.Ser134=)
c.448T= (p.Ser150=)
c.370T= (p.Ser124=)
c.463T= (p.Ser155=)
c.385T= (p.Ser129=)
n.526T=
16g.20349000A>CCA394986702UMODc.301T>G (p.Ser101Ala)
c.400T>G (p.Ser134Ala)
c.448T>G (p.Ser150Ala)
c.370T>G (p.Ser124Ala)
c.463T>G (p.Ser155Ala)
c.385T>G (p.Ser129Ala)
n.526T>G
16g.20349000A>GCA394986703UMODc.301T>C (p.Ser101Pro)
c.400T>C (p.Ser134Pro)
c.448T>C (p.Ser150Pro)
c.370T>C (p.Ser124Pro)
c.463T>C (p.Ser155Pro)
c.385T>C (p.Ser129Pro)
n.526T>C
16g.20349000A>TCA279300142UMODc.301T>A (p.Ser101Thr)
c.400T>A (p.Ser134Thr)
c.448T>A (p.Ser150Thr)
c.370T>A (p.Ser124Thr)
c.463T>A (p.Ser155Thr)
c.385T>A (p.Ser129Thr)
n.526T>A
 dbSNP
16g.20349001C>ACA494097040UMODc.300G>T (p.Leu100=)
c.399G>T (p.Leu133=)
c.447G>T (p.Leu149=)
c.369G>T (p.Leu123=)
c.462G>T (p.Leu154=)
c.384G>T (p.Leu128=)
n.525G>T
 gnomAD v4
16g.20349001C>GCA494097041UMODc.300G>C (p.Leu100=)
c.399G>C (p.Leu133=)
c.447G>C (p.Leu149=)
c.369G>C (p.Leu123=)
c.462G>C (p.Leu154=)
c.384G>C (p.Leu128=)
n.525G>C
16g.20349001C>TCA494097042UMODc.300G>A (p.Leu100=)
c.399G>A (p.Leu133=)
c.447G>A (p.Leu149=)
c.369G>A (p.Leu123=)
c.462G>A (p.Leu154=)
c.384G>A (p.Leu128=)
n.525G>A
16g.20349002A>CCA394986717UMODc.299T>G (p.Leu100Arg)
c.398T>G (p.Leu133Arg)
c.446T>G (p.Leu149Arg)
c.368T>G (p.Leu123Arg)
c.461T>G (p.Leu154Arg)
c.383T>G (p.Leu128Arg)
n.524T>G
16g.20349002A>GCA394986719UMODc.299T>C (p.Leu100Pro)
c.398T>C (p.Leu133Pro)
c.446T>C (p.Leu149Pro)
c.368T>C (p.Leu123Pro)
c.461T>C (p.Leu154Pro)
c.383T>C (p.Leu128Pro)
n.524T>C
 gnomAD v4
16g.20349002A>TCA394986729UMODc.299T>A (p.Leu100Gln)
c.398T>A (p.Leu133Gln)
c.446T>A (p.Leu149Gln)
c.368T>A (p.Leu123Gln)
c.461T>A (p.Leu154Gln)
c.383T>A (p.Leu128Gln)
n.524T>A
16g.20349003G>ACA494097047UMODc.298C>T (p.Leu100=)
c.397C>T (p.Leu133=)
c.445C>T (p.Leu149=)
c.367C>T (p.Leu123=)
c.460C>T (p.Leu154=)
c.382C>T (p.Leu128=)
n.523C>T
 gnomAD v4
16g.20349003G>CCA394986730UMODc.298C>G (p.Leu100Val)
c.397C>G (p.Leu133Val)
c.445C>G (p.Leu149Val)
c.367C>G (p.Leu123Val)
c.460C>G (p.Leu154Val)
c.382C>G (p.Leu128Val)
n.523C>G
16g.20349003G>TCA394986731UMODc.298C>A (p.Leu100Met)
c.397C>A (p.Leu133Met)
c.445C>A (p.Leu149Met)
c.367C>A (p.Leu123Met)
c.460C>A (p.Leu154Met)
c.382C>A (p.Leu128Met)
n.523C>A
16g.20349004G>ACA494097050UMODc.297C>T (p.Arg99=)
c.396C>T (p.Arg132=)
c.444C>T (p.Arg148=)
c.366C>T (p.Arg122=)
c.459C>T (p.Arg153=)
c.381C>T (p.Arg127=)
n.522C>T
 dbSNP COSMIC COSMIC
16g.20349004G>CCA494097051UMODc.297C>G (p.Arg99=)
c.396C>G (p.Arg132=)
c.444C>G (p.Arg148=)
c.366C>G (p.Arg122=)
c.459C>G (p.Arg153=)
c.381C>G (p.Arg127=)
n.522C>G
16g.20349004G=CA2211943367UMODc.297C= (p.Arg99=)
c.396C= (p.Arg132=)
c.444C= (p.Arg148=)
c.366C= (p.Arg122=)
c.459C= (p.Arg153=)
c.381C= (p.Arg127=)
n.522C=
16g.20349004G>TCA494097053UMODc.297C>A (p.Arg99=)
c.396C>A (p.Arg132=)
c.444C>A (p.Arg148=)
c.366C>A (p.Arg122=)
c.459C>A (p.Arg153=)
c.381C>A (p.Arg127=)
n.522C>A
16g.20349005C>ACA394986732UMODc.296G>T (p.Arg99Leu)
c.395G>T (p.Arg132Leu)
c.443G>T (p.Arg148Leu)
c.365G>T (p.Arg122Leu)
c.458G>T (p.Arg153Leu)
c.380G>T (p.Arg127Leu)
n.521G>T
 dbSNP gnomAD v3 gnomAD v4
16g.20349005C=CA2211943370UMODc.296G= (p.Arg99=)
c.395G= (p.Arg132=)
c.443G= (p.Arg148=)
c.365G= (p.Arg122=)
c.458G= (p.Arg153=)
c.380G= (p.Arg127=)
n.521G=
16g.20349005C>GCA394986735UMODc.296G>C (p.Arg99Pro)
c.395G>C (p.Arg132Pro)
c.443G>C (p.Arg148Pro)
c.365G>C (p.Arg122Pro)
c.458G>C (p.Arg153Pro)
c.380G>C (p.Arg127Pro)
n.521G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20349005C>TCA394986733UMODc.296G>A (p.Arg99His)
c.395G>A (p.Arg132His)
c.443G>A (p.Arg148His)
c.365G>A (p.Arg122His)
c.458G>A (p.Arg153His)
c.380G>A (p.Arg127His)
n.521G>A
 dbSNP gnomAD v4
16g.20349006G>ACA7939467UMODc.295C>T (p.Arg99Cys)
c.394C>T (p.Arg132Cys)
c.442C>T (p.Arg148Cys)
c.364C>T (p.Arg122Cys)
c.457C>T (p.Arg153Cys)
c.379C>T (p.Arg127Cys)
n.520C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20349006G>CCA394986751UMODc.295C>G (p.Arg99Gly)
c.394C>G (p.Arg132Gly)
c.442C>G (p.Arg148Gly)
c.364C>G (p.Arg122Gly)
c.457C>G (p.Arg153Gly)
c.379C>G (p.Arg127Gly)
n.520C>G
16g.20349006G=CA2211943373UMODc.295C= (p.Arg99=)
c.394C= (p.Arg132=)
c.442C= (p.Arg148=)
c.364C= (p.Arg122=)
c.457C= (p.Arg153=)
c.379C= (p.Arg127=)
n.520C=
16g.20349006G>TCA394986747UMODc.295C>A (p.Arg99Ser)
c.394C>A (p.Arg132Ser)
c.442C>A (p.Arg148Ser)
c.364C>A (p.Arg122Ser)
c.457C>A (p.Arg153Ser)
c.379C>A (p.Arg127Ser)
n.520C>A
 gnomAD v4
16g.20349007G>ACA494097058UMODc.294C>T (p.Phe98=)
c.393C>T (p.Phe131=)
c.441C>T (p.Phe147=)
c.363C>T (p.Phe121=)
c.456C>T (p.Phe152=)
c.378C>T (p.Phe126=)
n.519C>T
16g.20349007G>CCA394986752UMODc.294C>G (p.Phe98Leu)
c.393C>G (p.Phe131Leu)
c.441C>G (p.Phe147Leu)
c.363C>G (p.Phe121Leu)
c.456C>G (p.Phe152Leu)
c.378C>G (p.Phe126Leu)
n.519C>G
16g.20349007G>TCA394986753UMODc.294C>A (p.Phe98Leu)
c.393C>A (p.Phe131Leu)
c.441C>A (p.Phe147Leu)
c.363C>A (p.Phe121Leu)
c.456C>A (p.Phe152Leu)
c.378C>A (p.Phe126Leu)
n.519C>A
 gnomAD v4
16g.20349008A>CCA394986754UMODc.293T>G (p.Phe98Cys)
c.392T>G (p.Phe131Cys)
c.440T>G (p.Phe147Cys)
c.362T>G (p.Phe121Cys)
c.455T>G (p.Phe152Cys)
c.377T>G (p.Phe126Cys)
n.518T>G
16g.20349008A>GCA394986758UMODc.293T>C (p.Phe98Ser)
c.392T>C (p.Phe131Ser)
c.440T>C (p.Phe147Ser)
c.362T>C (p.Phe121Ser)
c.455T>C (p.Phe152Ser)
c.377T>C (p.Phe126Ser)
n.518T>C
16g.20349008A>TCA394986755UMODc.293T>A (p.Phe98Tyr)
c.392T>A (p.Phe131Tyr)
c.440T>A (p.Phe147Tyr)
c.362T>A (p.Phe121Tyr)
c.455T>A (p.Phe152Tyr)
c.377T>A (p.Phe126Tyr)
n.518T>A
16g.20349009A>CCA394986760UMODc.292T>G (p.Phe98Val)
c.391T>G (p.Phe131Val)
c.439T>G (p.Phe147Val)
c.361T>G (p.Phe121Val)
c.454T>G (p.Phe152Val)
c.376T>G (p.Phe126Val)
n.517T>G
16g.20349009A>GCA394986766UMODc.292T>C (p.Phe98Leu)
c.391T>C (p.Phe131Leu)
c.439T>C (p.Phe147Leu)
c.361T>C (p.Phe121Leu)
c.454T>C (p.Phe152Leu)
c.376T>C (p.Phe126Leu)
n.517T>C
 gnomAD v4
16g.20349009A>TCA394986765UMODc.292T>A (p.Phe98Ile)
c.391T>A (p.Phe131Ile)
c.439T>A (p.Phe147Ile)
c.361T>A (p.Phe121Ile)
c.454T>A (p.Phe152Ile)
c.376T>A (p.Phe126Ile)
n.517T>A
16g.20349010G>ACA494097062UMODc.291C>T (p.Gly97=)
c.390C>T (p.Gly130=)
c.438C>T (p.Gly146=)
c.360C>T (p.Gly120=)
c.453C>T (p.Gly151=)
c.375C>T (p.Gly125=)
n.516C>T
16g.20349010G>CCA494097063UMODc.291C>G (p.Gly97=)
c.390C>G (p.Gly130=)
c.438C>G (p.Gly146=)
c.360C>G (p.Gly120=)
c.453C>G (p.Gly151=)
c.375C>G (p.Gly125=)
n.516C>G
16g.20349010G>TCA494097065UMODc.291C>A (p.Gly97=)
c.390C>A (p.Gly130=)
c.438C>A (p.Gly146=)
c.360C>A (p.Gly120=)
c.453C>A (p.Gly151=)
c.375C>A (p.Gly125=)
n.516C>A
16g.20349011C>ACA394986768UMODc.290G>T (p.Gly97Val)
c.389G>T (p.Gly130Val)
c.437G>T (p.Gly146Val)
c.359G>T (p.Gly120Val)
c.452G>T (p.Gly151Val)
c.374G>T (p.Gly125Val)
n.515G>T
 gnomAD v4
16g.20349011C>GCA394986775UMODc.290G>C (p.Gly97Ala)
c.389G>C (p.Gly130Ala)
c.437G>C (p.Gly146Ala)
c.359G>C (p.Gly120Ala)
c.452G>C (p.Gly151Ala)
c.374G>C (p.Gly125Ala)
n.515G>C
16g.20349011C>TCA394986769UMODc.290G>A (p.Gly97Asp)
c.389G>A (p.Gly130Asp)
c.437G>A (p.Gly146Asp)
c.359G>A (p.Gly120Asp)
c.452G>A (p.Gly151Asp)
c.374G>A (p.Gly125Asp)
n.515G>A
16g.20349011_20349023delinsCCTTCGGGGCAGACA2211943376UMODc.278_290delinsTCTGCCCCGAAGG (p.Val93=)
c.377_389delinsTCTGCCCCGAAGG (p.Val126=)
c.425_437delinsTCTGCCCCGAAGG (p.Val142=)
c.347_359delinsTCTGCCCCGAAGG (p.Val116=)
c.440_452delinsTCTGCCCCGAAGG (p.Val147=)
c.362_374delinsTCTGCCCCGAAGG (p.Val121=)
n.503_515delinsTCTGCCCCGAAGG
16g.20349012C>ACA394986776UMODc.289G>T (p.Gly97Cys)
c.388G>T (p.Gly130Cys)
c.436G>T (p.Gly146Cys)
c.358G>T (p.Gly120Cys)
c.451G>T (p.Gly151Cys)
c.373G>T (p.Gly125Cys)
n.514G>T
16g.20349012C=CA2211943384UMODc.289G= (p.Gly97=)
c.388G= (p.Gly130=)
c.436G= (p.Gly146=)
c.358G= (p.Gly120=)
c.451G= (p.Gly151=)
c.373G= (p.Gly125=)
n.514G=
16g.20349012C>GCA394986779UMODc.289G>C (p.Gly97Arg)
c.388G>C (p.Gly130Arg)
c.436G>C (p.Gly146Arg)
c.358G>C (p.Gly120Arg)
c.451G>C (p.Gly151Arg)
c.373G>C (p.Gly125Arg)
n.514G>C
16g.20349012C>TCA7939468UMODc.289G>A (p.Gly97Ser)
c.388G>A (p.Gly130Ser)
c.436G>A (p.Gly146Ser)
c.358G>A (p.Gly120Ser)
c.451G>A (p.Gly151Ser)
c.373G>A (p.Gly125Ser)
n.514G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20349013_20349015delCA2499223256UMODc.287_289del (p.Glu96del)
c.386_388del (p.Glu129del)
c.434_436del (p.Glu145del)
c.356_358del (p.Glu119del)
c.449_451del (p.Glu150del)
c.371_373del (p.Glu124del)
n.512_514del
 ClinVar dbSNP gnomAD v4
16g.20349012_20349021delinsAGGAGGCCA2695222878UMODc.280_289delinsGCCTCCT (p.Cys94_Gly97delinsAlaSerCys)
c.379_388delinsGCCTCCT (p.Cys127_Gly130delinsAlaSerCys)
c.427_436delinsGCCTCCT (p.Cys143_Gly146delinsAlaSerCys)
c.349_358delinsGCCTCCT (p.Cys117_Gly120delinsAlaSerCys)
c.442_451delinsGCCTCCT (p.Cys148_Gly151delinsAlaSerCys)
c.364_373delinsGCCTCCT (p.Cys122_Gly125delinsAlaSerCys)
n.505_514delinsGCCTCCT
16g.20349012_20349023delinsAGGAGCCGGCA2695222879UMODc.278_289delinsCCGGCTCCT (p.Val93_Gly97delinsAlaGlySerCys)
c.377_388delinsCCGGCTCCT (p.Val126_Gly130delinsAlaGlySerCys)
c.425_436delinsCCGGCTCCT (p.Val142_Gly146delinsAlaGlySerCys)
c.347_358delinsCCGGCTCCT (p.Val116_Gly120delinsAlaGlySerCys)
c.440_451delinsCCGGCTCCT (p.Val147_Gly151delinsAlaGlySerCys)
c.362_373delinsCCGGCTCCT (p.Val121_Gly125delinsAlaGlySerCys)
n.503_514delinsCCGGCTCCT
16g.20349012_20349023delinsAGGAGGCGGCA10583988UMODc.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
c.377_388delinsCCGCCTCCT (p.Val126_Gly130delinsAlaAlaSerCys)
c.425_436delinsCCGCCTCCT (p.Val142_Gly146delinsAlaAlaSerCys)
c.347_358delinsCCGCCTCCT (p.Val116_Gly120delinsAlaAlaSerCys)
c.440_451delinsCCGCCTCCT (p.Val147_Gly151delinsAlaAlaSerCys)
c.362_373delinsCCGCCTCCT (p.Val121_Gly125delinsAlaAlaSerCys)
n.503_514delinsCCGCCTCCT
 ClinVar dbSNP
16g.20349013T>ACA394986788UMODc.288A>T (p.Glu96Asp)
c.387A>T (p.Glu129Asp)
c.435A>T (p.Glu145Asp)
c.357A>T (p.Glu119Asp)
c.450A>T (p.Glu150Asp)
c.372A>T (p.Glu124Asp)
n.513A>T
16g.20349013T>CCA494097069UMODc.288A>G (p.Glu96=)
c.387A>G (p.Glu129=)
c.435A>G (p.Glu145=)
c.357A>G (p.Glu119=)
c.450A>G (p.Glu150=)
c.372A>G (p.Glu124=)
n.513A>G
16g.20349013T>GCA394986791UMODc.288A>C (p.Glu96Asp)
c.387A>C (p.Glu129Asp)
c.435A>C (p.Glu145Asp)
c.357A>C (p.Glu119Asp)
c.450A>C (p.Glu150Asp)
c.372A>C (p.Glu124Asp)
n.513A>C
 dbSNP gnomAD v3 gnomAD v4
16g.20349013T=CA2211943390UMODc.288A= (p.Glu96=)
c.387A= (p.Glu129=)
c.435A= (p.Glu145=)
c.357A= (p.Glu119=)
c.450A= (p.Glu150=)
c.372A= (p.Glu124=)
n.513A=
16g.20349014T>ACA394986794UMODc.287A>T (p.Glu96Val)
c.386A>T (p.Glu129Val)
c.434A>T (p.Glu145Val)
c.356A>T (p.Glu119Val)
c.449A>T (p.Glu150Val)
c.371A>T (p.Glu124Val)
n.512A>T
16g.20349014T>CCA394986795UMODc.287A>G (p.Glu96Gly)
c.386A>G (p.Glu129Gly)
c.434A>G (p.Glu145Gly)
c.356A>G (p.Glu119Gly)
c.449A>G (p.Glu150Gly)
c.371A>G (p.Glu124Gly)
n.512A>G
16g.20349014T>GCA394986796UMODc.287A>C (p.Glu96Ala)
c.386A>C (p.Glu129Ala)
c.434A>C (p.Glu145Ala)
c.356A>C (p.Glu119Ala)
c.449A>C (p.Glu150Ala)
c.371A>C (p.Glu124Ala)
n.512A>C
16g.20349015C>ACA394986799UMODc.286G>T (p.Glu96Ter)
c.385G>T (p.Glu129Ter)
c.433G>T (p.Glu145Ter)
c.355G>T (p.Glu119Ter)
c.448G>T (p.Glu150Ter)
c.370G>T (p.Glu124Ter)
n.511G>T
 ClinVar dbSNP gnomAD v4
16g.20349015C=CA2211943398UMODc.286G= (p.Glu96=)
c.385G= (p.Glu129=)
c.433G= (p.Glu145=)
c.355G= (p.Glu119=)
c.448G= (p.Glu150=)
c.370G= (p.Glu124=)
n.511G=
16g.20349015C>GCA394986798UMODc.286G>C (p.Glu96Gln)
c.385G>C (p.Glu129Gln)
c.433G>C (p.Glu145Gln)
c.355G>C (p.Glu119Gln)
c.448G>C (p.Glu150Gln)
c.370G>C (p.Glu124Gln)
n.511G>C
16g.20349015C>TCA394986797UMODc.286G>A (p.Glu96Lys)
c.385G>A (p.Glu129Lys)
c.433G>A (p.Glu145Lys)
c.355G>A (p.Glu119Lys)
c.448G>A (p.Glu150Lys)
c.370G>A (p.Glu124Lys)
n.511G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20349016G>ACA494097074UMODc.285C>T (p.Pro95=)
c.384C>T (p.Pro128=)
c.432C>T (p.Pro144=)
c.354C>T (p.Pro118=)
c.447C>T (p.Pro149=)
c.369C>T (p.Pro123=)
n.510C>T
16g.20349016G>CCA279300173UMODc.285C>G (p.Pro95=)
c.384C>G (p.Pro128=)
c.432C>G (p.Pro144=)
c.354C>G (p.Pro118=)
c.447C>G (p.Pro149=)
c.369C>G (p.Pro123=)
n.510C>G
 dbSNP
16g.20349016G=CA2211943400UMODc.285C= (p.Pro95=)
c.384C= (p.Pro128=)
c.432C= (p.Pro144=)
c.354C= (p.Pro118=)
c.447C= (p.Pro149=)
c.369C= (p.Pro123=)
n.510C=
16g.20349016G>TCA494097076UMODc.285C>A (p.Pro95=)
c.384C>A (p.Pro128=)
c.432C>A (p.Pro144=)
c.354C>A (p.Pro118=)
c.447C>A (p.Pro149=)
c.369C>A (p.Pro123=)
n.510C>A
 gnomAD v4
16g.20349017G>ACA394986800UMODc.284C>T (p.Pro95Leu)
c.383C>T (p.Pro128Leu)
c.431C>T (p.Pro144Leu)
c.353C>T (p.Pro118Leu)
c.446C>T (p.Pro149Leu)
c.368C>T (p.Pro123Leu)
n.509C>T
16g.20349017G>CCA394986801UMODc.284C>G (p.Pro95Arg)
c.383C>G (p.Pro128Arg)
c.431C>G (p.Pro144Arg)
c.353C>G (p.Pro118Arg)
c.446C>G (p.Pro149Arg)
c.368C>G (p.Pro123Arg)
n.509C>G
16g.20349017G>TCA394986802UMODc.284C>A (p.Pro95His)
c.383C>A (p.Pro128His)
c.431C>A (p.Pro144His)
c.353C>A (p.Pro118His)
c.446C>A (p.Pro149His)
c.368C>A (p.Pro123His)
n.509C>A
 gnomAD v4
16g.20349017_20349018insACA2582343040UMODc.283_284insT (p.Pro95LeufsTer17)
c.283_284insT (p.Pro95LeufsTer?)
c.382_383insT (p.Pro128LeufsTer17)
c.430_431insT (p.Pro144LeufsTer17)
c.352_353insT (p.Pro118LeufsTer17)
c.445_446insT (p.Pro149LeufsTer?)
c.367_368insT (p.Pro123LeufsTer?)
c.367_368insT (p.Pro123LeufsTer17)
n.508_509insT
 gnomAD v4
16g.20349018G>ACA394986803UMODc.283C>T (p.Pro95Ser)
c.382C>T (p.Pro128Ser)
c.430C>T (p.Pro144Ser)
c.352C>T (p.Pro118Ser)
c.445C>T (p.Pro149Ser)
c.367C>T (p.Pro123Ser)
n.508C>T
 ClinVar dbSNP
16g.20349018G>CCA394986806UMODc.283C>G (p.Pro95Ala)
c.382C>G (p.Pro128Ala)
c.430C>G (p.Pro144Ala)
c.352C>G (p.Pro118Ala)
c.445C>G (p.Pro149Ala)
c.367C>G (p.Pro123Ala)
n.508C>G
16g.20349018G>TCA394986810UMODc.283C>A (p.Pro95Thr)
c.382C>A (p.Pro128Thr)
c.430C>A (p.Pro144Thr)
c.352C>A (p.Pro118Thr)
c.445C>A (p.Pro149Thr)
c.367C>A (p.Pro123Thr)
n.508C>A
16g.20349019G>ACA494097079UMODc.282C>T (p.Cys94=)
c.381C>T (p.Cys127=)
c.429C>T (p.Cys143=)
c.351C>T (p.Cys117=)
c.444C>T (p.Cys148=)
c.366C>T (p.Cys122=)
n.507C>T
 gnomAD v4
16g.20349019G>CCA394986812UMODc.282C>G (p.Cys94Trp)
c.381C>G (p.Cys127Trp)
c.429C>G (p.Cys143Trp)
c.351C>G (p.Cys117Trp)
c.444C>G (p.Cys148Trp)
c.366C>G (p.Cys122Trp)
n.507C>G
16g.20349019G>TCA394986814UMODc.282C>A (p.Cys94Ter)
c.381C>A (p.Cys127Ter)
c.429C>A (p.Cys143Ter)
c.351C>A (p.Cys117Ter)
c.444C>A (p.Cys148Ter)
c.366C>A (p.Cys122Ter)
n.507C>A
16g.20349020C>ACA394986818UMODc.281G>T (p.Cys94Phe)
c.380G>T (p.Cys127Phe)
c.428G>T (p.Cys143Phe)
c.350G>T (p.Cys117Phe)
c.443G>T (p.Cys148Phe)
c.365G>T (p.Cys122Phe)
n.506G>T
16g.20349020C>GCA394986819UMODc.281G>C (p.Cys94Ser)
c.380G>C (p.Cys127Ser)
c.428G>C (p.Cys143Ser)
c.350G>C (p.Cys117Ser)
c.443G>C (p.Cys148Ser)
c.365G>C (p.Cys122Ser)
n.506G>C
 ClinVar dbSNP COSMIC COSMIC
16g.20349020C>TCA394986823UMODc.281G>A (p.Cys94Tyr)
c.380G>A (p.Cys127Tyr)
c.428G>A (p.Cys143Tyr)
c.350G>A (p.Cys117Tyr)
c.443G>A (p.Cys148Tyr)
c.365G>A (p.Cys122Tyr)
n.506G>A
 gnomAD v4
16g.20349021delCA2573151890UMODc.280del (p.Cys94AlafsTer?)
c.379del (p.Cys127AlafsTer?)
c.427del (p.Cys143AlafsTer?)
c.349del (p.Cys117AlafsTer?)
c.442del (p.Cys148AlafsTer?)
c.364del (p.Cys122AlafsTer?)
n.505del
 dbSNP gnomAD v4
16g.20349021A>CCA394986830UMODc.280T>G (p.Cys94Gly)
c.379T>G (p.Cys127Gly)
c.427T>G (p.Cys143Gly)
c.349T>G (p.Cys117Gly)
c.442T>G (p.Cys148Gly)
c.364T>G (p.Cys122Gly)
n.505T>G
 ClinVar dbSNP
16g.20349021A>GCA394986832UMODc.280T>C (p.Cys94Arg)
c.379T>C (p.Cys127Arg)
c.427T>C (p.Cys143Arg)
c.349T>C (p.Cys117Arg)
c.442T>C (p.Cys148Arg)
c.364T>C (p.Cys122Arg)
n.505T>C
 ClinVar dbSNP
16g.20349021A>TCA394986825UMODc.280T>A (p.Cys94Ser)
c.379T>A (p.Cys127Ser)
c.427T>A (p.Cys143Ser)
c.349T>A (p.Cys117Ser)
c.442T>A (p.Cys148Ser)
c.364T>A (p.Cys122Ser)
n.505T>A
16g.20349022G>ACA494097083UMODc.279C>T (p.Val93=)
c.378C>T (p.Val126=)
c.426C>T (p.Val142=)
c.348C>T (p.Val116=)
c.441C>T (p.Val147=)
c.363C>T (p.Val121=)
n.504C>T
16g.20349022G>CCA494097086UMODc.279C>G (p.Val93=)
c.378C>G (p.Val126=)
c.426C>G (p.Val142=)
c.348C>G (p.Val116=)
c.441C>G (p.Val147=)
c.363C>G (p.Val121=)
n.504C>G
16g.20349022G>TCA494097084UMODc.279C>A (p.Val93=)
c.378C>A (p.Val126=)
c.426C>A (p.Val142=)
c.348C>A (p.Val116=)
c.441C>A (p.Val147=)
c.363C>A (p.Val121=)
n.504C>A
16g.20349022_20349023delinsAGGAGGCGGCA2695222880UMODc.278_279delinsCCGCCTCCT (p.Val93AlafsTer21)
c.278_279delinsCCGCCTCCT (p.Val93AlafsTer?)
c.377_378delinsCCGCCTCCT (p.Val126AlafsTer21)
c.425_426delinsCCGCCTCCT (p.Val142AlafsTer21)
c.347_348delinsCCGCCTCCT (p.Val116AlafsTer21)
c.440_441delinsCCGCCTCCT (p.Val147AlafsTer?)
c.362_363delinsCCGCCTCCT (p.Val121AlafsTer?)
c.362_363delinsCCGCCTCCT (p.Val121AlafsTer21)
n.503_504delinsCCGCCTCCT
16g.20349023A>CCA394986835UMODc.278T>G (p.Val93Gly)
c.377T>G (p.Val126Gly)
c.425T>G (p.Val142Gly)
c.347T>G (p.Val116Gly)
c.440T>G (p.Val147Gly)
c.362T>G (p.Val121Gly)
n.503T>G
16g.20349023A>GCA394986838UMODc.278T>C (p.Val93Ala)
c.377T>C (p.Val126Ala)
c.425T>C (p.Val142Ala)
c.347T>C (p.Val116Ala)
c.440T>C (p.Val147Ala)
c.362T>C (p.Val121Ala)
n.503T>C
 ClinVar dbSNP gnomAD v4
16g.20349023A>TCA394986840UMODc.278T>A (p.Val93Asp)
c.377T>A (p.Val126Asp)
c.425T>A (p.Val142Asp)
c.347T>A (p.Val116Asp)
c.440T>A (p.Val147Asp)
c.362T>A (p.Val121Asp)
n.503T>A
16g.20349023_20349024insAGGAGGCGGCA1139771284UMODc.277_278insCCGCCTCCT (p.Val93delinsAlaAlaSerPhe)
c.376_377insCCGCCTCCT (p.Val126delinsAlaAlaSerPhe)
c.424_425insCCGCCTCCT (p.Val142delinsAlaAlaSerPhe)
c.346_347insCCGCCTCCT (p.Val116delinsAlaAlaSerPhe)
c.439_440insCCGCCTCCT (p.Val147delinsAlaAlaSerPhe)
c.361_362insCCGCCTCCT (p.Val121delinsAlaAlaSerPhe)
n.502_503insCCGCCTCCT
16g.20349024C>ACA394986843UMODc.277G>T (p.Val93Phe)
c.376G>T (p.Val126Phe)
c.424G>T (p.Val142Phe)
c.346G>T (p.Val116Phe)
c.439G>T (p.Val147Phe)
c.361G>T (p.Val121Phe)
n.502G>T
16g.20349024C=CA2211943402UMODc.277G= (p.Val93=)
c.376G= (p.Val126=)
c.424G= (p.Val142=)
c.346G= (p.Val116=)
c.439G= (p.Val147=)
c.361G= (p.Val121=)
n.502G=
16g.20349024C>GCA394986847UMODc.277G>C (p.Val93Leu)
c.376G>C (p.Val126Leu)
c.424G>C (p.Val142Leu)
c.346G>C (p.Val116Leu)
c.439G>C (p.Val147Leu)
c.361G>C (p.Val121Leu)
n.502G>C
16g.20349024C>TCA394986851UMODc.277G>A (p.Val93Ile)
c.376G>A (p.Val126Ile)
c.424G>A (p.Val142Ile)
c.346G>A (p.Val116Ile)
c.439G>A (p.Val147Ile)
c.361G>A (p.Val121Ile)
n.502G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20349025G>ACA494097092UMODc.276C>T (p.Cys92=)
c.375C>T (p.Cys125=)
c.423C>T (p.Cys141=)
c.345C>T (p.Cys115=)
c.438C>T (p.Cys146=)
c.360C>T (p.Cys120=)
n.501C>T
16g.20349025G>CCA394986854UMODc.276C>G (p.Cys92Trp)
c.375C>G (p.Cys125Trp)
c.423C>G (p.Cys141Trp)
c.345C>G (p.Cys115Trp)
c.438C>G (p.Cys146Trp)
c.360C>G (p.Cys120Trp)
n.501C>G
 ClinVar
16g.20349025G>TCA394986858UMODc.276C>A (p.Cys92Ter)
c.375C>A (p.Cys125Ter)
c.423C>A (p.Cys141Ter)
c.345C>A (p.Cys115Ter)
c.438C>A (p.Cys146Ter)
c.360C>A (p.Cys120Ter)
n.501C>A
 gnomAD v4 COSMIC COSMIC
16g.20349026C>ACA394986864UMODc.275G>T (p.Cys92Phe)
c.374G>T (p.Cys125Phe)
c.422G>T (p.Cys141Phe)
c.344G>T (p.Cys115Phe)
c.437G>T (p.Cys146Phe)
c.359G>T (p.Cys120Phe)
n.500G>T
16g.20349026C>GCA394986867UMODc.275G>C (p.Cys92Ser)
c.374G>C (p.Cys125Ser)
c.422G>C (p.Cys141Ser)
c.344G>C (p.Cys115Ser)
c.437G>C (p.Cys146Ser)
c.359G>C (p.Cys120Ser)
n.500G>C
16g.20349026C>TCA394986870UMODc.275G>A (p.Cys92Tyr)
c.374G>A (p.Cys125Tyr)
c.422G>A (p.Cys141Tyr)
c.344G>A (p.Cys115Tyr)
c.437G>A (p.Cys146Tyr)
c.359G>A (p.Cys120Tyr)
n.500G>A
16g.20349026_20349029delinsCAGGCA2211943405UMODc.272_275delinsCCTG (p.Ser91=)
c.371_374delinsCCTG (p.Ser124=)
c.419_422delinsCCTG (p.Ser140=)
c.341_344delinsCCTG (p.Ser114=)
c.434_437delinsCCTG (p.Ser145=)
c.356_359delinsCCTG (p.Ser119=)
n.497_500delinsCCTG
16g.20349027A>CCA394986873UMODc.274T>G (p.Cys92Gly)
c.373T>G (p.Cys125Gly)
c.421T>G (p.Cys141Gly)
c.343T>G (p.Cys115Gly)
c.436T>G (p.Cys146Gly)
c.358T>G (p.Cys120Gly)
n.499T>G
 ClinVar
16g.20349027A>GCA394986875UMODc.274T>C (p.Cys92Arg)
c.373T>C (p.Cys125Arg)
c.421T>C (p.Cys141Arg)
c.343T>C (p.Cys115Arg)
c.436T>C (p.Cys146Arg)
c.358T>C (p.Cys120Arg)
n.499T>C
16g.20349027A>TCA394986872UMODc.274T>A (p.Cys92Ser)
c.373T>A (p.Cys125Ser)
c.421T>A (p.Cys141Ser)
c.343T>A (p.Cys115Ser)
c.436T>A (p.Cys146Ser)
c.358T>A (p.Cys120Ser)
n.499T>A
16g.20349029_20349031delCA2211943407UMODc.272_274del (p.Ser91del)
c.371_373del (p.Ser124del)
c.419_421del (p.Ser140del)
c.341_343del (p.Ser114del)
c.434_436del (p.Ser145del)
c.356_358del (p.Ser119del)
n.497_499del
 ClinVar dbSNP
16g.20349028G>ACA494097102UMODc.273C>T (p.Ser91=)
c.372C>T (p.Ser124=)
c.420C>T (p.Ser140=)
c.342C>T (p.Ser114=)
c.435C>T (p.Ser145=)
c.357C>T (p.Ser119=)
n.498C>T
 COSMIC COSMIC
16g.20349028G>CCA494097104UMODc.273C>G (p.Ser91=)
c.372C>G (p.Ser124=)
c.420C>G (p.Ser140=)
c.342C>G (p.Ser114=)
c.435C>G (p.Ser145=)
c.357C>G (p.Ser119=)
n.498C>G
16g.20349028G>TCA494097105UMODc.273C>A (p.Ser91=)
c.372C>A (p.Ser124=)
c.420C>A (p.Ser140=)
c.342C>A (p.Ser114=)
c.435C>A (p.Ser145=)
c.357C>A (p.Ser119=)
n.498C>A
16g.20349029delCA2695222881UMODc.273del (p.Cys92AlafsTer?)
c.372del (p.Cys125AlafsTer?)
c.420del (p.Cys141AlafsTer?)
c.342del (p.Cys115AlafsTer?)
c.435del (p.Cys146AlafsTer?)
c.357del (p.Cys120AlafsTer?)
n.498del
16g.20349029G>ACA7939469UMODc.272C>T (p.Ser91Phe)
c.371C>T (p.Ser124Phe)
c.419C>T (p.Ser140Phe)
c.341C>T (p.Ser114Phe)
c.434C>T (p.Ser145Phe)
c.356C>T (p.Ser119Phe)
n.497C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349029G>CCA394986877UMODc.272C>G (p.Ser91Cys)
c.371C>G (p.Ser124Cys)
c.419C>G (p.Ser140Cys)
c.341C>G (p.Ser114Cys)
c.434C>G (p.Ser145Cys)
c.356C>G (p.Ser119Cys)
n.497C>G
16g.20349029G=CA2211943409UMODc.272C= (p.Ser91=)
c.371C= (p.Ser124=)
c.419C= (p.Ser140=)
c.341C= (p.Ser114=)
c.434C= (p.Ser145=)
c.356C= (p.Ser119=)
n.497C=
16g.20349029G>TCA394986880UMODc.272C>A (p.Ser91Tyr)
c.371C>A (p.Ser124Tyr)
c.419C>A (p.Ser140Tyr)
c.341C>A (p.Ser114Tyr)
c.434C>A (p.Ser145Tyr)
c.356C>A (p.Ser119Tyr)
n.497C>A
16g.20349030A>CCA394986883UMODc.271T>G (p.Ser91Ala)
c.370T>G (p.Ser124Ala)
c.418T>G (p.Ser140Ala)
c.340T>G (p.Ser114Ala)
c.433T>G (p.Ser145Ala)
c.355T>G (p.Ser119Ala)
n.496T>G
 gnomAD v4
16g.20349030A>GCA394986884UMODc.271T>C (p.Ser91Pro)
c.370T>C (p.Ser124Pro)
c.418T>C (p.Ser140Pro)
c.340T>C (p.Ser114Pro)
c.433T>C (p.Ser145Pro)
c.355T>C (p.Ser119Pro)
n.496T>C
16g.20349030A>TCA394986887UMODc.271T>A (p.Ser91Thr)
c.370T>A (p.Ser124Thr)
c.418T>A (p.Ser140Thr)
c.340T>A (p.Ser114Thr)
c.433T>A (p.Ser145Thr)
c.355T>A (p.Ser119Thr)
n.496T>A
16g.20349031G>ACA494097110UMODc.270C>T (p.Phe90=)
c.369C>T (p.Phe123=)
c.417C>T (p.Phe139=)
c.339C>T (p.Phe113=)
c.432C>T (p.Phe144=)
c.354C>T (p.Phe118=)
n.495C>T
16g.20349031G>CCA394986889UMODc.270C>G (p.Phe90Leu)
c.369C>G (p.Phe123Leu)
c.417C>G (p.Phe139Leu)
c.339C>G (p.Phe113Leu)
c.432C>G (p.Phe144Leu)
c.354C>G (p.Phe118Leu)
n.495C>G
16g.20349031G>TCA394986890UMODc.270C>A (p.Phe90Leu)
c.369C>A (p.Phe123Leu)
c.417C>A (p.Phe139Leu)
c.339C>A (p.Phe113Leu)
c.432C>A (p.Phe144Leu)
c.354C>A (p.Phe118Leu)
n.495C>A
16g.20349032A=CA2211943411UMODc.269T= (p.Phe90=)
c.368T= (p.Phe123=)
c.416T= (p.Phe139=)
c.338T= (p.Phe113=)
c.431T= (p.Phe144=)
c.353T= (p.Phe118=)
n.494T=
16g.20349032A>CCA394986891UMODc.269T>G (p.Phe90Cys)
c.368T>G (p.Phe123Cys)
c.416T>G (p.Phe139Cys)
c.338T>G (p.Phe113Cys)
c.431T>G (p.Phe144Cys)
c.353T>G (p.Phe118Cys)
n.494T>G
16g.20349032A>GCA394986892UMODc.269T>C (p.Phe90Ser)
c.368T>C (p.Phe123Ser)
c.416T>C (p.Phe139Ser)
c.338T>C (p.Phe113Ser)
c.431T>C (p.Phe144Ser)
c.353T>C (p.Phe118Ser)
n.494T>C
 gnomAD v4
16g.20349032A>TCA394986893UMODc.269T>A (p.Phe90Tyr)
c.368T>A (p.Phe123Tyr)
c.416T>A (p.Phe139Tyr)
c.338T>A (p.Phe113Tyr)
c.431T>A (p.Phe144Tyr)
c.353T>A (p.Phe118Tyr)
n.494T>A
 dbSNP
16g.20349033A>CCA394986896UMODc.268T>G (p.Phe90Val)
c.367T>G (p.Phe123Val)
c.415T>G (p.Phe139Val)
c.337T>G (p.Phe113Val)
c.430T>G (p.Phe144Val)
c.352T>G (p.Phe118Val)
n.493T>G
16g.20349033A>GCA394986907UMODc.268T>C (p.Phe90Leu)
c.367T>C (p.Phe123Leu)
c.415T>C (p.Phe139Leu)
c.337T>C (p.Phe113Leu)
c.430T>C (p.Phe144Leu)
c.352T>C (p.Phe118Leu)
n.493T>C
16g.20349033A>TCA394986910UMODc.268T>A (p.Phe90Ile)
c.367T>A (p.Phe123Ile)
c.415T>A (p.Phe139Ile)
c.337T>A (p.Phe113Ile)
c.430T>A (p.Phe144Ile)
c.352T>A (p.Phe118Ile)
n.493T>A
16g.20349034G>ACA494097111UMODc.267C>T (p.Ser89=)
c.366C>T (p.Ser122=)
c.414C>T (p.Ser138=)
c.336C>T (p.Ser112=)
c.429C>T (p.Ser143=)
c.351C>T (p.Ser117=)
n.492C>T
 dbSNP
16g.20349034G>CCA494097113UMODc.267C>G (p.Ser89=)
c.366C>G (p.Ser122=)
c.414C>G (p.Ser138=)
c.336C>G (p.Ser112=)
c.429C>G (p.Ser143=)
c.351C>G (p.Ser117=)
n.492C>G
16g.20349034G>TCA494097112UMODc.267C>A (p.Ser89=)
c.366C>A (p.Ser122=)
c.414C>A (p.Ser138=)
c.336C>A (p.Ser112=)
c.429C>A (p.Ser143=)
c.351C>A (p.Ser117=)
n.492C>A
16g.20349035G>ACA394986917UMODc.266C>T (p.Ser89Phe)
c.365C>T (p.Ser122Phe)
c.413C>T (p.Ser138Phe)
c.335C>T (p.Ser112Phe)
c.428C>T (p.Ser143Phe)
c.350C>T (p.Ser117Phe)
n.491C>T
 gnomAD v4
16g.20349035G>CCA394986918UMODc.266C>G (p.Ser89Cys)
c.365C>G (p.Ser122Cys)
c.413C>G (p.Ser138Cys)
c.335C>G (p.Ser112Cys)
c.428C>G (p.Ser143Cys)
c.350C>G (p.Ser117Cys)
n.491C>G
16g.20349035G=CA2211943413UMODc.266C= (p.Ser89=)
c.365C= (p.Ser122=)
c.413C= (p.Ser138=)
c.335C= (p.Ser112=)
c.428C= (p.Ser143=)
c.350C= (p.Ser117=)
n.491C=
16g.20349035G>TCA394986914UMODc.266C>A (p.Ser89Tyr)
c.365C>A (p.Ser122Tyr)
c.413C>A (p.Ser138Tyr)
c.335C>A (p.Ser112Tyr)
c.428C>A (p.Ser143Tyr)
c.350C>A (p.Ser117Tyr)
n.491C>A
16g.20349036A>CCA394986924UMODc.265T>G (p.Ser89Ala)
c.364T>G (p.Ser122Ala)
c.412T>G (p.Ser138Ala)
c.265T>G
c.334T>G (p.Ser112Ala)
c.427T>G (p.Ser143Ala)
c.349T>G (p.Ser117Ala)
n.490T>G
16g.20349036A>GCA394986921UMODc.265T>C (p.Ser89Pro)
c.364T>C (p.Ser122Pro)
c.412T>C (p.Ser138Pro)
c.265T>C
c.334T>C (p.Ser112Pro)
c.427T>C (p.Ser143Pro)
c.349T>C (p.Ser117Pro)
n.490T>C
16g.20349036A>TCA394986923UMODc.265T>A (p.Ser89Thr)
c.364T>A (p.Ser122Thr)
c.412T>A (p.Ser138Thr)
c.265T>A
c.334T>A (p.Ser112Thr)
c.427T>A (p.Ser143Thr)
c.349T>A (p.Ser117Thr)
n.490T>A
16g.20349036dupCA2211943417UMODc.265dup (p.Ser89PhefsTer23)
c.265dup (p.Ser89PhefsTer?)
c.364dup (p.Ser122PhefsTer23)
c.412dup (p.Ser138PhefsTer23)
c.334dup (p.Ser112PhefsTer23)
c.427dup (p.Ser143PhefsTer?)
c.349dup (p.Ser117PhefsTer?)
c.349dup (p.Ser117PhefsTer23)
n.490dup
 dbSNP gnomAD v4
16g.20349037G>ACA7939470UMODc.264C>T (p.Gly88=)
c.363C>T (p.Gly121=)
c.411C>T (p.Gly137=)
c.333C>T (p.Gly111=)
c.426C>T (p.Gly142=)
c.348C>T (p.Gly116=)
n.489C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349037G>CCA494097121UMODc.264C>G (p.Gly88=)
c.363C>G (p.Gly121=)
c.411C>G (p.Gly137=)
c.333C>G (p.Gly111=)
c.426C>G (p.Gly142=)
c.348C>G (p.Gly116=)
n.489C>G
16g.20349037G=CA2211943420UMODc.264C= (p.Gly88=)
c.363C= (p.Gly121=)
c.411C= (p.Gly137=)
c.333C= (p.Gly111=)
c.426C= (p.Gly142=)
c.348C= (p.Gly116=)
n.489C=
16g.20349037G>TCA494097122UMODc.264C>A (p.Gly88=)
c.363C>A (p.Gly121=)
c.411C>A (p.Gly137=)
c.333C>A (p.Gly111=)
c.426C>A (p.Gly142=)
c.348C>A (p.Gly116=)
n.489C>A
16g.20349038C>ACA394986933UMODc.263G>T (p.Gly88Val)
c.362G>T (p.Gly121Val)
c.410G>T (p.Gly137Val)
c.332G>T (p.Gly111Val)
c.425G>T (p.Gly142Val)
c.347G>T (p.Gly116Val)
n.488G>T
16g.20349038C>GCA394986940UMODc.263G>C (p.Gly88Ala)
c.362G>C (p.Gly121Ala)
c.410G>C (p.Gly137Ala)
c.332G>C (p.Gly111Ala)
c.425G>C (p.Gly142Ala)
c.347G>C (p.Gly116Ala)
n.488G>C
 gnomAD v4
16g.20349038C>TCA394986944UMODc.263G>A (p.Gly88Asp)
c.362G>A (p.Gly121Asp)
c.410G>A (p.Gly137Asp)
c.332G>A (p.Gly111Asp)
c.425G>A (p.Gly142Asp)
c.347G>A (p.Gly116Asp)
n.488G>A
 ClinVar dbSNP
16g.20349039C>ACA394986947UMODc.262G>T (p.Gly88Cys)
c.361G>T (p.Gly121Cys)
c.409G>T (p.Gly137Cys)
c.331G>T (p.Gly111Cys)
c.424G>T (p.Gly142Cys)
c.346G>T (p.Gly116Cys)
n.487G>T
16g.20349039C>GCA394986952UMODc.262G>C (p.Gly88Arg)
c.361G>C (p.Gly121Arg)
c.409G>C (p.Gly137Arg)
c.331G>C (p.Gly111Arg)
c.424G>C (p.Gly142Arg)
c.346G>C (p.Gly116Arg)
n.487G>C
16g.20349039C>TCA394986954UMODc.262G>A (p.Gly88Ser)
c.361G>A (p.Gly121Ser)
c.409G>A (p.Gly137Ser)
c.331G>A (p.Gly111Ser)
c.424G>A (p.Gly142Ser)
c.346G>A (p.Gly116Ser)
n.487G>A
16g.20349040T>ACA494097125UMODc.261A>T (p.Pro87=)
c.360A>T (p.Pro120=)
c.408A>T (p.Pro136=)
c.330A>T (p.Pro110=)
c.423A>T (p.Pro141=)
c.345A>T (p.Pro115=)
n.486A>T
 gnomAD v4
16g.20349040T>CCA494097126UMODc.261A>G (p.Pro87=)
c.360A>G (p.Pro120=)
c.408A>G (p.Pro136=)
c.330A>G (p.Pro110=)
c.423A>G (p.Pro141=)
c.345A>G (p.Pro115=)
n.486A>G
16g.20349040T>GCA494097128UMODc.261A>C (p.Pro87=)
c.360A>C (p.Pro120=)
c.408A>C (p.Pro136=)
c.330A>C (p.Pro110=)
c.423A>C (p.Pro141=)
c.345A>C (p.Pro115=)
n.486A>C
16g.20349041G>ACA394986965UMODc.260C>T (p.Pro87Leu)
c.359C>T (p.Pro120Leu)
c.407C>T (p.Pro136Leu)
c.329C>T (p.Pro110Leu)
c.422C>T (p.Pro141Leu)
c.344C>T (p.Pro115Leu)
n.485C>T
16g.20349041G>CCA394986966UMODc.260C>G (p.Pro87Arg)
c.359C>G (p.Pro120Arg)
c.407C>G (p.Pro136Arg)
c.329C>G (p.Pro110Arg)
c.422C>G (p.Pro141Arg)
c.344C>G (p.Pro115Arg)
n.485C>G
16g.20349041G>TCA394986967UMODc.260C>A (p.Pro87Gln)
c.359C>A (p.Pro120Gln)
c.407C>A (p.Pro136Gln)
c.329C>A (p.Pro110Gln)
c.422C>A (p.Pro141Gln)
c.344C>A (p.Pro115Gln)
n.485C>A
16g.20349042G>ACA279300180UMODc.259C>T (p.Pro87Ser)
c.358C>T (p.Pro120Ser)
c.406C>T (p.Pro136Ser)
c.328C>T (p.Pro110Ser)
c.421C>T (p.Pro141Ser)
c.343C>T (p.Pro115Ser)
n.484C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20349042G>CCA7939471UMODc.259C>G (p.Pro87Ala)
c.358C>G (p.Pro120Ala)
c.406C>G (p.Pro136Ala)
c.328C>G (p.Pro110Ala)
c.421C>G (p.Pro141Ala)
c.343C>G (p.Pro115Ala)
n.484C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20349042G=CA2211943424UMODc.259C= (p.Pro87=)
c.358C= (p.Pro120=)
c.406C= (p.Pro136=)
c.328C= (p.Pro110=)
c.421C= (p.Pro141=)
c.343C= (p.Pro115=)
n.484C=
16g.20349042G>TCA394986968UMODc.259C>A (p.Pro87Thr)
c.358C>A (p.Pro120Thr)
c.406C>A (p.Pro136Thr)
c.328C>A (p.Pro110Thr)
c.421C>A (p.Pro141Thr)
c.343C>A (p.Pro115Thr)
n.484C>A
16g.20349043C>ACA279300184UMODc.258G>T (p.Thr86=)
c.357G>T (p.Thr119=)
c.405G>T (p.Thr135=)
c.327G>T (p.Thr109=)
c.420G>T (p.Thr140=)
c.342G>T (p.Thr114=)
n.483G>T
 dbSNP gnomAD v4
16g.20349043C=CA2211943426UMODc.258G= (p.Thr86=)
c.357G= (p.Thr119=)
c.405G= (p.Thr135=)
c.327G= (p.Thr109=)
c.420G= (p.Thr140=)
c.342G= (p.Thr114=)
n.483G=
16g.20349043C>GCA494097133UMODc.258G>C (p.Thr86=)
c.357G>C (p.Thr119=)
c.405G>C (p.Thr135=)
c.327G>C (p.Thr109=)
c.420G>C (p.Thr140=)
c.342G>C (p.Thr114=)
n.483G>C
16g.20349043C>TCA494097134UMODc.258G>A (p.Thr86=)
c.357G>A (p.Thr119=)
c.405G>A (p.Thr135=)
c.327G>A (p.Thr109=)
c.420G>A (p.Thr140=)
c.342G>A (p.Thr114=)
n.483G>A
 gnomAD v4
16g.20349044G>ACA394986969UMODc.257C>T (p.Thr86Met)
c.356C>T (p.Thr119Met)
c.404C>T (p.Thr135Met)
c.326C>T (p.Thr109Met)
c.419C>T (p.Thr140Met)
c.341C>T (p.Thr114Met)
n.482C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20349044G>CCA7939472UMODc.257C>G (p.Thr86Arg)
c.356C>G (p.Thr119Arg)
c.404C>G (p.Thr135Arg)
c.326C>G (p.Thr109Arg)
c.419C>G (p.Thr140Arg)
c.341C>G (p.Thr114Arg)
n.482C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349044G=CA2211943429UMODc.257C= (p.Thr86=)
c.356C= (p.Thr119=)
c.404C= (p.Thr135=)
c.326C= (p.Thr109=)
c.419C= (p.Thr140=)
c.341C= (p.Thr114=)
n.482C=
16g.20349044G>TCA394986971UMODc.257C>A (p.Thr86Lys)
c.356C>A (p.Thr119Lys)
c.404C>A (p.Thr135Lys)
c.326C>A (p.Thr109Lys)
c.419C>A (p.Thr140Lys)
c.341C>A (p.Thr114Lys)
n.482C>A
16g.20349045T>ACA7939473UMODc.256A>T (p.Thr86Ser)
c.355A>T (p.Thr119Ser)
c.403A>T (p.Thr135Ser)
c.325A>T (p.Thr109Ser)
c.418A>T (p.Thr140Ser)
c.340A>T (p.Thr114Ser)
n.481A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20349045T>CCA394986972UMODc.256A>G (p.Thr86Ala)
c.355A>G (p.Thr119Ala)
c.403A>G (p.Thr135Ala)
c.325A>G (p.Thr109Ala)
c.418A>G (p.Thr140Ala)
c.340A>G (p.Thr114Ala)
n.481A>G
16g.20349045T>GCA394986973UMODc.256A>C (p.Thr86Pro)
c.355A>C (p.Thr119Pro)
c.403A>C (p.Thr135Pro)
c.325A>C (p.Thr109Pro)
c.418A>C (p.Thr140Pro)
c.340A>C (p.Thr114Pro)
n.481A>C
 dbSNP
16g.20349045T=CA2211943432UMODc.256A= (p.Thr86=)
c.355A= (p.Thr119=)
c.403A= (p.Thr135=)
c.325A= (p.Thr109=)
c.418A= (p.Thr140=)
c.340A= (p.Thr114=)
n.481A=
16g.20349045dupCA621658531UMODc.256dup (p.Thr86AsnfsTer26)
c.256dup (p.Thr86AsnfsTer?)
c.355dup (p.Thr119AsnfsTer26)
c.403dup (p.Thr135AsnfsTer26)
c.325dup (p.Thr109AsnfsTer26)
c.418dup (p.Thr140AsnfsTer?)
c.340dup (p.Thr114AsnfsTer?)
c.340dup (p.Thr114AsnfsTer26)
n.481dup
 dbSNP gnomAD v2 gnomAD v4
16g.20349046G>ACA7939474UMODc.255C>T (p.Asn85=)
c.354C>T (p.Asn118=)
c.402C>T (p.Asn134=)
c.324C>T (p.Asn108=)
c.417C>T (p.Asn139=)
c.339C>T (p.Asn113=)
n.480C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20349046G>CCA394986974UMODc.255C>G (p.Asn85Lys)
c.354C>G (p.Asn118Lys)
c.402C>G (p.Asn134Lys)
c.324C>G (p.Asn108Lys)
c.417C>G (p.Asn139Lys)
c.339C>G (p.Asn113Lys)
n.480C>G
16g.20349046G=CA2211943439UMODc.255C= (p.Asn85=)
c.354C= (p.Asn118=)
c.402C= (p.Asn134=)
c.324C= (p.Asn108=)
c.417C= (p.Asn139=)
c.339C= (p.Asn113=)
n.480C=
16g.20349046G>TCA394986976UMODc.255C>A (p.Asn85Lys)
c.354C>A (p.Asn118Lys)
c.402C>A (p.Asn134Lys)
c.324C>A (p.Asn108Lys)
c.417C>A (p.Asn139Lys)
c.339C>A (p.Asn113Lys)
n.480C>A
 ClinVar dbSNP
16g.20349046_20349047delinsGTCA2211943436UMODc.254_255delinsAC (p.Asn85=)
c.353_354delinsAC (p.Asn118=)
c.401_402delinsAC (p.Asn134=)
c.323_324delinsAC (p.Asn108=)
c.416_417delinsAC (p.Asn139=)
c.338_339delinsAC (p.Asn113=)
n.479_480delinsAC
16g.20349047T>ACA394986977UMODc.254A>T (p.Asn85Ile)
c.353A>T (p.Asn118Ile)
c.401A>T (p.Asn134Ile)
c.323A>T (p.Asn108Ile)
c.416A>T (p.Asn139Ile)
c.338A>T (p.Asn113Ile)
n.479A>T
16g.20349047T>CCA16607268UMODc.254A>G (p.Asn85Ser)
c.353A>G (p.Asn118Ser)
c.401A>G (p.Asn134Ser)
c.323A>G (p.Asn108Ser)
c.416A>G (p.Asn139Ser)
c.338A>G (p.Asn113Ser)
n.479A>G
 ClinVar dbSNP
16g.20349047T>GCA394986995UMODc.254A>C (p.Asn85Thr)
c.353A>C (p.Asn118Thr)
c.401A>C (p.Asn134Thr)
c.323A>C (p.Asn108Thr)
c.416A>C (p.Asn139Thr)
c.338A>C (p.Asn113Thr)
n.479A>C
16g.20349047T=CA2211943446UMODc.254A= (p.Asn85=)
c.353A= (p.Asn118=)
c.401A= (p.Asn134=)
c.323A= (p.Asn108=)
c.416A= (p.Asn139=)
c.338A= (p.Asn113=)
n.479A=
16g.20349049delCA975444843UMODc.254del (p.Asn85ThrfsTer?)
c.353del (p.Asn118ThrfsTer?)
c.401del (p.Asn134ThrfsTer?)
c.323del (p.Asn108ThrfsTer?)
c.416del (p.Asn139ThrfsTer?)
c.338del (p.Asn113ThrfsTer?)
n.479del
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched