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

Number of alleles fetched