Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.63837445G>ACA8706512SMARCD2n.285C>T
n.31C>T
c.256C>T (p.Arg86Trp)
c.60C>T
c.214C>T (p.Arg72Trp)
c.397C>T (p.Arg133Trp)
c.172C>T (p.Arg58Trp)
c.253C>T (p.Arg85Trp)
n.53-208C>T
c.181C>T (p.Arg61Trp)
c.217-208C>T (n.217-208C>T)
c.286C>T (p.Arg96Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.63837445G>CCA400601453SMARCD2n.285C>G
n.31C>G
c.256C>G (p.Arg86Gly)
c.60C>G
c.214C>G (p.Arg72Gly)
c.397C>G (p.Arg133Gly)
c.172C>G (p.Arg58Gly)
c.253C>G (p.Arg85Gly)
n.53-208C>G
c.181C>G (p.Arg61Gly)
c.217-208C>G (n.217-208C>G)
c.286C>G (p.Arg96Gly)
17g.63837445G=CA2270105536SMARCD2n.285C=
n.31C=
c.256C= (p.Arg86=)
c.60C=
c.214C= (p.Arg72=)
c.397C= (p.Arg133=)
c.172C= (p.Arg58=)
c.253C= (p.Arg85=)
n.53-208C=
c.181C= (p.Arg61=)
c.217-208C= (n.217-208C=)
c.286C= (p.Arg96=)
17g.63837445G>TCA501202269SMARCD2n.285C>A
n.31C>A
c.256C>A (p.Arg86=)
c.60C>A
c.214C>A (p.Arg72=)
c.397C>A (p.Arg133=)
c.172C>A (p.Arg58=)
c.253C>A (p.Arg85=)
n.53-208C>A
c.181C>A (p.Arg61=)
c.217-208C>A (n.217-208C>A)
c.286C>A (p.Arg96=)
 dbSNP gnomAD v4
17g.63837446G>ACA292954682SMARCD2n.284C>T
n.30C>T
c.255C>T (p.Arg85=)
c.59C>T
c.213C>T (p.Arg71=)
c.396C>T (p.Arg132=)
c.171C>T (p.Arg57=)
c.252C>T (p.Arg84=)
n.53-209C>T
c.180C>T (p.Arg60=)
c.217-209C>T (n.217-209C>T)
c.285C>T (p.Arg95=)
 dbSNP gnomAD v3 gnomAD v4
17g.63837446G>CCA501202270SMARCD2n.284C>G
n.30C>G
c.255C>G (p.Arg85=)
c.59C>G
c.213C>G (p.Arg71=)
c.396C>G (p.Arg132=)
c.171C>G (p.Arg57=)
c.252C>G (p.Arg84=)
n.53-209C>G
c.180C>G (p.Arg60=)
c.217-209C>G (n.217-209C>G)
c.285C>G (p.Arg95=)
17g.63837446G=CA2270105537SMARCD2n.284C=
n.30C=
c.255C= (p.Arg85=)
c.59C=
c.213C= (p.Arg71=)
c.396C= (p.Arg132=)
c.171C= (p.Arg57=)
c.252C= (p.Arg84=)
n.53-209C=
c.180C= (p.Arg60=)
c.217-209C= (n.217-209C=)
c.285C= (p.Arg95=)
17g.63837446G>TCA501202271SMARCD2n.284C>A
n.30C>A
c.255C>A (p.Arg85=)
c.59C>A
c.213C>A (p.Arg71=)
c.396C>A (p.Arg132=)
c.171C>A (p.Arg57=)
c.252C>A (p.Arg84=)
n.53-209C>A
c.180C>A (p.Arg60=)
c.217-209C>A (n.217-209C>A)
c.285C>A (p.Arg95=)
17g.63837447C>ACA400601455SMARCD2n.283G>T
n.29G>T
c.254G>T (p.Arg85Leu)
c.58G>T
c.212G>T (p.Arg71Leu)
c.395G>T (p.Arg132Leu)
c.170G>T (p.Arg57Leu)
c.251G>T (p.Arg84Leu)
n.53-210G>T
c.179G>T (p.Arg60Leu)
c.217-210G>T (n.217-210G>T)
c.284G>T (p.Arg95Leu)
17g.63837447C=CA2270105538SMARCD2n.283G=
n.29G=
c.254G= (p.Arg85=)
c.58G=
c.212G= (p.Arg71=)
c.395G= (p.Arg132=)
c.170G= (p.Arg57=)
c.251G= (p.Arg84=)
n.53-210G=
c.179G= (p.Arg60=)
c.217-210G= (n.217-210G=)
c.284G= (p.Arg95=)
17g.63837447C>GCA400601454SMARCD2n.283G>C
n.29G>C
c.254G>C (p.Arg85Pro)
c.58G>C
c.212G>C (p.Arg71Pro)
c.395G>C (p.Arg132Pro)
c.170G>C (p.Arg57Pro)
c.251G>C (p.Arg84Pro)
n.53-210G>C
c.179G>C (p.Arg60Pro)
c.217-210G>C (n.217-210G>C)
c.284G>C (p.Arg95Pro)
17g.63837447C>TCA8706513SMARCD2n.283G>A
n.29G>A
c.254G>A (p.Arg85His)
c.58G>A
c.212G>A (p.Arg71His)
c.395G>A (p.Arg132His)
c.170G>A (p.Arg57His)
c.251G>A (p.Arg84His)
n.53-210G>A
c.179G>A (p.Arg60His)
c.217-210G>A (n.217-210G>A)
c.284G>A (p.Arg95His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837448G>ACA292954688SMARCD2n.282C>T
n.28C>T
c.253C>T (p.Arg85Cys)
c.57C>T
c.211C>T (p.Arg71Cys)
c.394C>T (p.Arg132Cys)
c.169C>T (p.Arg57Cys)
c.250C>T (p.Arg84Cys)
n.53-211C>T
c.178C>T (p.Arg60Cys)
c.217-211C>T (n.217-211C>T)
c.283C>T (p.Arg95Cys)
 dbSNP gnomAD v4
17g.63837448G>CCA400601456SMARCD2n.282C>G
n.28C>G
c.253C>G (p.Arg85Gly)
c.57C>G
c.211C>G (p.Arg71Gly)
c.394C>G (p.Arg132Gly)
c.169C>G (p.Arg57Gly)
c.250C>G (p.Arg84Gly)
n.53-211C>G
c.178C>G (p.Arg60Gly)
c.217-211C>G (n.217-211C>G)
c.283C>G (p.Arg95Gly)
17g.63837448G=CA2270105539SMARCD2n.282C=
n.28C=
c.253C= (p.Arg85=)
c.57C=
c.211C= (p.Arg71=)
c.394C= (p.Arg132=)
c.169C= (p.Arg57=)
c.250C= (p.Arg84=)
n.53-211C=
c.178C= (p.Arg60=)
c.217-211C= (n.217-211C=)
c.283C= (p.Arg95=)
17g.63837448G>TCA400601457SMARCD2n.282C>A
n.28C>A
c.253C>A (p.Arg85Ser)
c.57C>A
c.211C>A (p.Arg71Ser)
c.394C>A (p.Arg132Ser)
c.169C>A (p.Arg57Ser)
c.250C>A (p.Arg84Ser)
n.53-211C>A
c.178C>A (p.Arg60Ser)
c.217-211C>A (n.217-211C>A)
c.283C>A (p.Arg95Ser)
17g.63837449C>ACA400601458SMARCD2n.281G>T
n.27G>T
c.252G>T (p.Gln84His)
c.56G>T
c.210G>T (p.Gln70His)
c.393G>T (p.Gln131His)
c.168G>T (p.Gln56His)
c.249G>T (p.Gln83His)
n.53-212G>T
c.177G>T (p.Gln59His)
c.217-212G>T (n.217-212G>T)
c.282G>T (p.Gln94His)
17g.63837449C=CA2270105540SMARCD2n.281G=
n.27G=
c.252G= (p.Gln84=)
c.56G=
c.210G= (p.Gln70=)
c.393G= (p.Gln131=)
c.168G= (p.Gln56=)
c.249G= (p.Gln83=)
n.53-212G=
c.177G= (p.Gln59=)
c.217-212G= (n.217-212G=)
c.282G= (p.Gln94=)
17g.63837449C>GCA400601459SMARCD2n.281G>C
n.27G>C
c.252G>C (p.Gln84His)
c.56G>C
c.210G>C (p.Gln70His)
c.393G>C (p.Gln131His)
c.168G>C (p.Gln56His)
c.249G>C (p.Gln83His)
n.53-212G>C
c.177G>C (p.Gln59His)
c.217-212G>C (n.217-212G>C)
c.282G>C (p.Gln94His)
17g.63837449C>TCA292954696SMARCD2n.281G>A
n.27G>A
c.252G>A (p.Gln84=)
c.56G>A
c.210G>A (p.Gln70=)
c.393G>A (p.Gln131=)
c.168G>A (p.Gln56=)
c.249G>A (p.Gln83=)
n.53-212G>A
c.177G>A (p.Gln59=)
c.217-212G>A (n.217-212G>A)
c.282G>A (p.Gln94=)
 dbSNP gnomAD v2 gnomAD v4
17g.63837450T>ACA400601460SMARCD2n.280A>T
n.26A>T
c.251A>T (p.Gln84Leu)
c.55A>T
c.209A>T (p.Gln70Leu)
c.392A>T (p.Gln131Leu)
c.167A>T (p.Gln56Leu)
c.248A>T (p.Gln83Leu)
n.53-213A>T
c.176A>T (p.Gln59Leu)
c.217-213A>T (n.217-213A>T)
c.281A>T (p.Gln94Leu)
17g.63837450T>CCA400601461SMARCD2n.280A>G
n.26A>G
c.251A>G (p.Gln84Arg)
c.55A>G
c.209A>G (p.Gln70Arg)
c.392A>G (p.Gln131Arg)
c.167A>G (p.Gln56Arg)
c.248A>G (p.Gln83Arg)
n.53-213A>G
c.176A>G (p.Gln59Arg)
c.217-213A>G (n.217-213A>G)
c.281A>G (p.Gln94Arg)
17g.63837450T>GCA400601462SMARCD2n.280A>C
n.26A>C
c.251A>C (p.Gln84Pro)
c.55A>C
c.209A>C (p.Gln70Pro)
c.392A>C (p.Gln131Pro)
c.167A>C (p.Gln56Pro)
c.248A>C (p.Gln83Pro)
n.53-213A>C
c.176A>C (p.Gln59Pro)
c.217-213A>C (n.217-213A>C)
c.281A>C (p.Gln94Pro)
 dbSNP gnomAD v2 gnomAD v4
17g.63837450T=CA2270105541SMARCD2n.280A=
n.26A=
c.251A= (p.Gln84=)
c.55A=
c.209A= (p.Gln70=)
c.392A= (p.Gln131=)
c.167A= (p.Gln56=)
c.248A= (p.Gln83=)
n.53-213A=
c.176A= (p.Gln59=)
c.217-213A= (n.217-213A=)
c.281A= (p.Gln94=)
17g.63837451G>ACA400601463SMARCD2n.279C>T
n.25C>T
c.250C>T (p.Gln84Ter)
c.54C>T
c.208C>T (p.Gln70Ter)
c.391C>T (p.Gln131Ter)
c.166C>T (p.Gln56Ter)
c.247C>T (p.Gln83Ter)
n.53-214C>T
c.175C>T (p.Gln59Ter)
c.217-214C>T (n.217-214C>T)
c.280C>T (p.Gln94Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.63837451G>CCA400601464SMARCD2n.279C>G
n.25C>G
c.250C>G (p.Gln84Glu)
c.54C>G
c.208C>G (p.Gln70Glu)
c.391C>G (p.Gln131Glu)
c.166C>G (p.Gln56Glu)
c.247C>G (p.Gln83Glu)
n.53-214C>G
c.175C>G (p.Gln59Glu)
c.217-214C>G (n.217-214C>G)
c.280C>G (p.Gln94Glu)
17g.63837451G=CA2270105542SMARCD2n.279C=
n.25C=
c.250C= (p.Gln84=)
c.54C=
c.208C= (p.Gln70=)
c.391C= (p.Gln131=)
c.166C= (p.Gln56=)
c.247C= (p.Gln83=)
n.53-214C=
c.175C= (p.Gln59=)
c.217-214C= (n.217-214C=)
c.280C= (p.Gln94=)
17g.63837451G>TCA400601465SMARCD2n.279C>A
n.25C>A
c.250C>A (p.Gln84Lys)
c.54C>A
c.208C>A (p.Gln70Lys)
c.391C>A (p.Gln131Lys)
c.166C>A (p.Gln56Lys)
c.247C>A (p.Gln83Lys)
n.53-214C>A
c.175C>A (p.Gln59Lys)
c.217-214C>A (n.217-214C>A)
c.280C>A (p.Gln94Lys)
17g.63837452G>ACA501202276SMARCD2n.278C>T
n.24C>T
c.249C>T (p.Ala83=)
c.53C>T
c.207C>T (p.Ala69=)
c.390C>T (p.Ala130=)
c.165C>T (p.Ala55=)
c.246C>T (p.Ala82=)
n.53-215C>T
c.174C>T (p.Ala58=)
c.217-215C>T (n.217-215C>T)
c.279C>T (p.Ala93=)
17g.63837452G>CCA501202277SMARCD2n.278C>G
n.24C>G
c.249C>G (p.Ala83=)
c.53C>G
c.207C>G (p.Ala69=)
c.390C>G (p.Ala130=)
c.165C>G (p.Ala55=)
c.246C>G (p.Ala82=)
n.53-215C>G
c.174C>G (p.Ala58=)
c.217-215C>G (n.217-215C>G)
c.279C>G (p.Ala93=)
17g.63837452G>TCA501202278SMARCD2n.278C>A
n.24C>A
c.249C>A (p.Ala83=)
c.53C>A
c.207C>A (p.Ala69=)
c.390C>A (p.Ala130=)
c.165C>A (p.Ala55=)
c.246C>A (p.Ala82=)
n.53-215C>A
c.174C>A (p.Ala58=)
c.217-215C>A (n.217-215C>A)
c.279C>A (p.Ala93=)
17g.63837453G>ACA400601466SMARCD2n.277C>T
n.23C>T
c.248C>T (p.Ala83Val)
c.52C>T
c.206C>T (p.Ala69Val)
c.389C>T (p.Ala130Val)
c.164C>T (p.Ala55Val)
c.245C>T (p.Ala82Val)
n.53-216C>T
c.173C>T (p.Ala58Val)
c.217-216C>T (n.217-216C>T)
c.278C>T (p.Ala93Val)
 gnomAD v4
17g.63837453G>CCA400601467SMARCD2n.277C>G
n.23C>G
c.248C>G (p.Ala83Gly)
c.52C>G
c.206C>G (p.Ala69Gly)
c.389C>G (p.Ala130Gly)
c.164C>G (p.Ala55Gly)
c.245C>G (p.Ala82Gly)
n.53-216C>G
c.173C>G (p.Ala58Gly)
c.217-216C>G (n.217-216C>G)
c.278C>G (p.Ala93Gly)
17g.63837453G>TCA400601468SMARCD2n.277C>A
n.23C>A
c.248C>A (p.Ala83Asp)
c.52C>A
c.206C>A (p.Ala69Asp)
c.389C>A (p.Ala130Asp)
c.164C>A (p.Ala55Asp)
c.245C>A (p.Ala82Asp)
n.53-216C>A
c.173C>A (p.Ala58Asp)
c.217-216C>A (n.217-216C>A)
c.278C>A (p.Ala93Asp)
17g.63837454C>ACA8706514SMARCD2n.276G>T
n.22G>T
c.247G>T (p.Ala83Ser)
c.51G>T
c.205G>T (p.Ala69Ser)
c.388G>T (p.Ala130Ser)
c.163G>T (p.Ala55Ser)
c.244G>T (p.Ala82Ser)
n.53-217G>T
c.172G>T (p.Ala58Ser)
c.217-217G>T (n.217-217G>T)
c.277G>T (p.Ala93Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837454C=CA2270105543SMARCD2n.276G=
n.22G=
c.247G= (p.Ala83=)
c.51G=
c.205G= (p.Ala69=)
c.388G= (p.Ala130=)
c.163G= (p.Ala55=)
c.244G= (p.Ala82=)
n.53-217G=
c.172G= (p.Ala58=)
c.217-217G= (n.217-217G=)
c.277G= (p.Ala93=)
17g.63837454C>GCA400601470SMARCD2n.276G>C
n.22G>C
c.247G>C (p.Ala83Pro)
c.51G>C
c.205G>C (p.Ala69Pro)
c.388G>C (p.Ala130Pro)
c.163G>C (p.Ala55Pro)
c.244G>C (p.Ala82Pro)
n.53-217G>C
c.172G>C (p.Ala58Pro)
c.217-217G>C (n.217-217G>C)
c.277G>C (p.Ala93Pro)
17g.63837454C>TCA400601469SMARCD2n.276G>A
n.22G>A
c.247G>A (p.Ala83Thr)
c.51G>A
c.205G>A (p.Ala69Thr)
c.388G>A (p.Ala130Thr)
c.163G>A (p.Ala55Thr)
c.244G>A (p.Ala82Thr)
n.53-217G>A
c.172G>A (p.Ala58Thr)
c.217-217G>A (n.217-217G>A)
c.277G>A (p.Ala93Thr)
 ClinVar gnomAD v4
17g.63837455A>CCA501202284SMARCD2n.275T>G
n.21T>G
c.246T>G (p.Pro82=)
c.50T>G
c.204T>G (p.Pro68=)
c.387T>G (p.Pro129=)
c.162T>G (p.Pro54=)
c.243T>G (p.Pro81=)
n.53-218T>G
c.171T>G (p.Pro57=)
c.217-218T>G (n.217-218T>G)
c.276T>G (p.Pro92=)
17g.63837455A>GCA501202282SMARCD2n.275T>C
n.21T>C
c.246T>C (p.Pro82=)
c.50T>C
c.204T>C (p.Pro68=)
c.387T>C (p.Pro129=)
c.162T>C (p.Pro54=)
c.243T>C (p.Pro81=)
n.53-218T>C
c.171T>C (p.Pro57=)
c.217-218T>C (n.217-218T>C)
c.276T>C (p.Pro92=)
 gnomAD v4
17g.63837455A>TCA501202280SMARCD2n.275T>A
n.21T>A
c.246T>A (p.Pro82=)
c.50T>A
c.204T>A (p.Pro68=)
c.387T>A (p.Pro129=)
c.162T>A (p.Pro54=)
c.243T>A (p.Pro81=)
n.53-218T>A
c.171T>A (p.Pro57=)
c.217-218T>A (n.217-218T>A)
c.276T>A (p.Pro92=)
17g.63837456G>ACA8706515SMARCD2n.274C>T
n.20C>T
c.245C>T (p.Pro82Leu)
c.49C>T
c.203C>T (p.Pro68Leu)
c.386C>T (p.Pro129Leu)
c.161C>T (p.Pro54Leu)
c.242C>T (p.Pro81Leu)
n.53-219C>T
c.170C>T (p.Pro57Leu)
c.217-219C>T (n.217-219C>T)
c.275C>T (p.Pro92Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837456G>CCA400601471SMARCD2n.274C>G
n.20C>G
c.245C>G (p.Pro82Arg)
c.49C>G
c.203C>G (p.Pro68Arg)
c.386C>G (p.Pro129Arg)
c.161C>G (p.Pro54Arg)
c.242C>G (p.Pro81Arg)
n.53-219C>G
c.170C>G (p.Pro57Arg)
c.217-219C>G (n.217-219C>G)
c.275C>G (p.Pro92Arg)
17g.63837456G=CA2270105544SMARCD2n.274C=
n.20C=
c.245C= (p.Pro82=)
c.49C=
c.203C= (p.Pro68=)
c.386C= (p.Pro129=)
c.161C= (p.Pro54=)
c.242C= (p.Pro81=)
n.53-219C=
c.170C= (p.Pro57=)
c.217-219C= (n.217-219C=)
c.275C= (p.Pro92=)
17g.63837456G>TCA400601472SMARCD2n.274C>A
n.20C>A
c.245C>A (p.Pro82His)
c.49C>A
c.203C>A (p.Pro68His)
c.386C>A (p.Pro129His)
c.161C>A (p.Pro54His)
c.242C>A (p.Pro81His)
n.53-219C>A
c.170C>A (p.Pro57His)
c.217-219C>A (n.217-219C>A)
c.275C>A (p.Pro92His)
17g.63837457G>ACA8706516SMARCD2n.273C>T
n.19C>T
c.244C>T (p.Pro82Ser)
c.48C>T
c.202C>T (p.Pro68Ser)
c.385C>T (p.Pro129Ser)
c.160C>T (p.Pro54Ser)
c.241C>T (p.Pro81Ser)
n.53-220C>T
c.169C>T (p.Pro57Ser)
c.217-220C>T (n.217-220C>T)
c.274C>T (p.Pro92Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837457G>CCA400601473SMARCD2n.273C>G
n.19C>G
c.244C>G (p.Pro82Ala)
c.48C>G
c.202C>G (p.Pro68Ala)
c.385C>G (p.Pro129Ala)
c.160C>G (p.Pro54Ala)
c.241C>G (p.Pro81Ala)
n.53-220C>G
c.169C>G (p.Pro57Ala)
c.217-220C>G (n.217-220C>G)
c.274C>G (p.Pro92Ala)
17g.63837457G=CA2270105545SMARCD2n.273C=
n.19C=
c.244C= (p.Pro82=)
c.48C=
c.202C= (p.Pro68=)
c.385C= (p.Pro129=)
c.160C= (p.Pro54=)
c.241C= (p.Pro81=)
n.53-220C=
c.169C= (p.Pro57=)
c.217-220C= (n.217-220C=)
c.274C= (p.Pro92=)
17g.63837457G>TCA400601474SMARCD2n.273C>A
n.19C>A
c.244C>A (p.Pro82Thr)
c.48C>A
c.202C>A (p.Pro68Thr)
c.385C>A (p.Pro129Thr)
c.160C>A (p.Pro54Thr)
c.241C>A (p.Pro81Thr)
n.53-220C>A
c.169C>A (p.Pro57Thr)
c.217-220C>A (n.217-220C>A)
c.274C>A (p.Pro92Thr)
17g.63837458C>ACA400601475SMARCD2n.272G>T
n.18G>T
c.243G>T (p.Met81Ile)
c.47G>T
c.201G>T (p.Met67Ile)
c.384G>T (p.Met128Ile)
c.159G>T (p.Met53Ile)
c.240G>T (p.Met80Ile)
n.53-221G>T
c.168G>T (p.Met56Ile)
c.217-221G>T (n.217-221G>T)
c.273G>T (p.Met91Ile)
 gnomAD v4
17g.63837458C>GCA400601476SMARCD2n.272G>C
n.18G>C
c.243G>C (p.Met81Ile)
c.47G>C
c.201G>C (p.Met67Ile)
c.384G>C (p.Met128Ile)
c.159G>C (p.Met53Ile)
c.240G>C (p.Met80Ile)
n.53-221G>C
c.168G>C (p.Met56Ile)
c.217-221G>C (n.217-221G>C)
c.273G>C (p.Met91Ile)
17g.63837458C>TCA400601477SMARCD2n.272G>A
n.18G>A
c.243G>A (p.Met81Ile)
c.47G>A
c.201G>A (p.Met67Ile)
c.384G>A (p.Met128Ile)
c.159G>A (p.Met53Ile)
c.240G>A (p.Met80Ile)
n.53-221G>A
c.168G>A (p.Met56Ile)
c.217-221G>A (n.217-221G>A)
c.273G>A (p.Met91Ile)
 gnomAD v4
17g.63837459A=CA2270105546SMARCD2n.271T=
n.17T=
c.242T= (p.Met81=)
c.46T=
c.200T= (p.Met67=)
c.383T= (p.Met128=)
c.158T= (p.Met53=)
c.239T= (p.Met80=)
n.53-222T=
c.167T= (p.Met56=)
c.217-222T= (n.217-222T=)
c.272T= (p.Met91=)
17g.63837459A>CCA400601478SMARCD2n.271T>G
n.17T>G
c.242T>G (p.Met81Arg)
c.46T>G
c.200T>G (p.Met67Arg)
c.383T>G (p.Met128Arg)
c.158T>G (p.Met53Arg)
c.239T>G (p.Met80Arg)
n.53-222T>G
c.167T>G (p.Met56Arg)
c.217-222T>G (n.217-222T>G)
c.272T>G (p.Met91Arg)
17g.63837459A>GCA400601479SMARCD2n.271T>C
n.17T>C
c.242T>C (p.Met81Thr)
c.46T>C
c.200T>C (p.Met67Thr)
c.383T>C (p.Met128Thr)
c.158T>C (p.Met53Thr)
c.239T>C (p.Met80Thr)
n.53-222T>C
c.167T>C (p.Met56Thr)
c.217-222T>C (n.217-222T>C)
c.272T>C (p.Met91Thr)
 dbSNP gnomAD v4
17g.63837459A>TCA400601480SMARCD2n.271T>A
n.17T>A
c.242T>A (p.Met81Lys)
c.46T>A
c.200T>A (p.Met67Lys)
c.383T>A (p.Met128Lys)
c.158T>A (p.Met53Lys)
c.239T>A (p.Met80Lys)
n.53-222T>A
c.167T>A (p.Met56Lys)
c.217-222T>A (n.217-222T>A)
c.272T>A (p.Met91Lys)
17g.63837460T>ACA400601482SMARCD2n.270A>T
n.16A>T
c.241A>T (p.Met81Leu)
c.45A>T
c.199A>T (p.Met67Leu)
c.382A>T (p.Met128Leu)
c.157A>T (p.Met53Leu)
c.238A>T (p.Met80Leu)
n.53-223A>T
c.166A>T (p.Met56Leu)
c.217-223A>T (n.217-223A>T)
c.271A>T (p.Met91Leu)
17g.63837460T>CCA400601483SMARCD2n.270A>G
n.16A>G
c.241A>G (p.Met81Val)
c.45A>G
c.199A>G (p.Met67Val)
c.382A>G (p.Met128Val)
c.157A>G (p.Met53Val)
c.238A>G (p.Met80Val)
n.53-223A>G
c.166A>G (p.Met56Val)
c.217-223A>G (n.217-223A>G)
c.271A>G (p.Met91Val)
 dbSNP gnomAD v2 gnomAD v4
17g.63837460T>GCA400601481SMARCD2n.270A>C
n.16A>C
c.241A>C (p.Met81Leu)
c.45A>C
c.199A>C (p.Met67Leu)
c.382A>C (p.Met128Leu)
c.157A>C (p.Met53Leu)
c.238A>C (p.Met80Leu)
n.53-223A>C
c.166A>C (p.Met56Leu)
c.217-223A>C (n.217-223A>C)
c.271A>C (p.Met91Leu)
17g.63837460T=CA2270105547SMARCD2n.270A=
n.16A=
c.241A= (p.Met81=)
c.45A=
c.199A= (p.Met67=)
c.382A= (p.Met128=)
c.157A= (p.Met53=)
c.238A= (p.Met80=)
n.53-223A=
c.166A= (p.Met56=)
c.217-223A= (n.217-223A=)
c.271A= (p.Met91=)
17g.63837461G>ACA501202287SMARCD2n.269C>T
n.15C>T
c.240C>T (p.Pro80=)
c.44C>T
c.198C>T (p.Pro66=)
c.381C>T (p.Pro127=)
c.156C>T (p.Pro52=)
c.237C>T (p.Pro79=)
n.53-224C>T
c.165C>T (p.Pro55=)
c.217-224C>T (n.217-224C>T)
c.270C>T (p.Pro90=)
17g.63837461G>CCA501202288SMARCD2n.269C>G
n.15C>G
c.240C>G (p.Pro80=)
c.44C>G
c.198C>G (p.Pro66=)
c.381C>G (p.Pro127=)
c.156C>G (p.Pro52=)
c.237C>G (p.Pro79=)
n.53-224C>G
c.165C>G (p.Pro55=)
c.217-224C>G (n.217-224C>G)
c.270C>G (p.Pro90=)
17g.63837461G>TCA501202290SMARCD2n.269C>A
n.15C>A
c.240C>A (p.Pro80=)
c.44C>A
c.198C>A (p.Pro66=)
c.381C>A (p.Pro127=)
c.156C>A (p.Pro52=)
c.237C>A (p.Pro79=)
n.53-224C>A
c.165C>A (p.Pro55=)
c.217-224C>A (n.217-224C>A)
c.270C>A (p.Pro90=)
17g.63837462G>ACA400601484SMARCD2n.268C>T
n.14C>T
c.239C>T (p.Pro80Leu)
c.43C>T
c.197C>T (p.Pro66Leu)
c.380C>T (p.Pro127Leu)
c.155C>T (p.Pro52Leu)
c.236C>T (p.Pro79Leu)
n.53-225C>T
c.164C>T (p.Pro55Leu)
c.217-225C>T (n.217-225C>T)
c.269C>T (p.Pro90Leu)
17g.63837462G>CCA400601485SMARCD2n.268C>G
n.14C>G
c.239C>G (p.Pro80Arg)
c.43C>G
c.197C>G (p.Pro66Arg)
c.380C>G (p.Pro127Arg)
c.155C>G (p.Pro52Arg)
c.236C>G (p.Pro79Arg)
n.53-225C>G
c.164C>G (p.Pro55Arg)
c.217-225C>G (n.217-225C>G)
c.269C>G (p.Pro90Arg)
17g.63837462G>TCA400601486SMARCD2n.268C>A
n.14C>A
c.239C>A (p.Pro80His)
c.43C>A
c.197C>A (p.Pro66His)
c.380C>A (p.Pro127His)
c.155C>A (p.Pro52His)
c.236C>A (p.Pro79His)
n.53-225C>A
c.164C>A (p.Pro55His)
c.217-225C>A (n.217-225C>A)
c.269C>A (p.Pro90His)
17g.63837463G>ACA400601487SMARCD2n.267C>T
n.13C>T
c.238C>T (p.Pro80Ser)
c.42C>T
c.196C>T (p.Pro66Ser)
c.379C>T (p.Pro127Ser)
c.154C>T (p.Pro52Ser)
c.235C>T (p.Pro79Ser)
n.53-226C>T
c.163C>T (p.Pro55Ser)
c.217-226C>T (n.217-226C>T)
c.268C>T (p.Pro90Ser)
17g.63837463G>CCA400601488SMARCD2n.267C>G
n.13C>G
c.238C>G (p.Pro80Ala)
c.42C>G
c.196C>G (p.Pro66Ala)
c.379C>G (p.Pro127Ala)
c.154C>G (p.Pro52Ala)
c.235C>G (p.Pro79Ala)
n.53-226C>G
c.163C>G (p.Pro55Ala)
c.217-226C>G (n.217-226C>G)
c.268C>G (p.Pro90Ala)
17g.63837463G>TCA400601489SMARCD2n.267C>A
n.13C>A
c.238C>A (p.Pro80Thr)
c.42C>A
c.196C>A (p.Pro66Thr)
c.379C>A (p.Pro127Thr)
c.154C>A (p.Pro52Thr)
c.235C>A (p.Pro79Thr)
n.53-226C>A
c.163C>A (p.Pro55Thr)
c.217-226C>A (n.217-226C>A)
c.268C>A (p.Pro90Thr)
17g.63837464A>CCA501202292SMARCD2n.266T>G
n.12T>G
c.237T>G (p.Pro79=)
c.41T>G
c.195T>G (p.Pro65=)
c.378T>G (p.Pro126=)
c.153T>G (p.Pro51=)
c.234T>G (p.Pro78=)
n.53-227T>G
c.162T>G (p.Pro54=)
c.217-227T>G (n.217-227T>G)
c.267T>G (p.Pro89=)
17g.63837464A>GCA501202294SMARCD2n.266T>C
n.12T>C
c.237T>C (p.Pro79=)
c.41T>C
c.195T>C (p.Pro65=)
c.378T>C (p.Pro126=)
c.153T>C (p.Pro51=)
c.234T>C (p.Pro78=)
n.53-227T>C
c.162T>C (p.Pro54=)
c.217-227T>C (n.217-227T>C)
c.267T>C (p.Pro89=)
 gnomAD v4
17g.63837464A>TCA501202295SMARCD2n.266T>A
n.12T>A
c.237T>A (p.Pro79=)
c.41T>A
c.195T>A (p.Pro65=)
c.378T>A (p.Pro126=)
c.153T>A (p.Pro51=)
c.234T>A (p.Pro78=)
n.53-227T>A
c.162T>A (p.Pro54=)
c.217-227T>A (n.217-227T>A)
c.267T>A (p.Pro89=)
17g.63837465G>ACA292954714SMARCD2n.265C>T
n.11C>T
c.236C>T (p.Pro79Leu)
c.40C>T
c.194C>T (p.Pro65Leu)
c.377C>T (p.Pro126Leu)
c.152C>T (p.Pro51Leu)
c.233C>T (p.Pro78Leu)
n.53-228C>T
c.161C>T (p.Pro54Leu)
c.217-228C>T (n.217-228C>T)
c.266C>T (p.Pro89Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.63837465G>CCA400601490SMARCD2n.265C>G
n.11C>G
c.236C>G (p.Pro79Arg)
c.40C>G
c.194C>G (p.Pro65Arg)
c.377C>G (p.Pro126Arg)
c.152C>G (p.Pro51Arg)
c.233C>G (p.Pro78Arg)
n.53-228C>G
c.161C>G (p.Pro54Arg)
c.217-228C>G (n.217-228C>G)
c.266C>G (p.Pro89Arg)
17g.63837465G=CA2270105548SMARCD2n.265C=
n.11C=
c.236C= (p.Pro79=)
c.40C=
c.194C= (p.Pro65=)
c.377C= (p.Pro126=)
c.152C= (p.Pro51=)
c.233C= (p.Pro78=)
n.53-228C=
c.161C= (p.Pro54=)
c.217-228C= (n.217-228C=)
c.266C= (p.Pro89=)
17g.63837465G>TCA400601491SMARCD2n.265C>A
n.11C>A
c.236C>A (p.Pro79His)
c.40C>A
c.194C>A (p.Pro65His)
c.377C>A (p.Pro126His)
c.152C>A (p.Pro51His)
c.233C>A (p.Pro78His)
n.53-228C>A
c.161C>A (p.Pro54His)
c.217-228C>A (n.217-228C>A)
c.266C>A (p.Pro89His)
17g.63837466G>ACA400601492SMARCD2n.264C>T
n.10C>T
c.235C>T (p.Pro79Ser)
c.39C>T
c.193C>T (p.Pro65Ser)
c.376C>T (p.Pro126Ser)
c.151C>T (p.Pro51Ser)
c.232C>T (p.Pro78Ser)
n.53-229C>T
c.160C>T (p.Pro54Ser)
c.217-229C>T (n.217-229C>T)
c.265C>T (p.Pro89Ser)
17g.63837466G>CCA400601493SMARCD2n.264C>G
n.10C>G
c.235C>G (p.Pro79Ala)
c.39C>G
c.193C>G (p.Pro65Ala)
c.376C>G (p.Pro126Ala)
c.151C>G (p.Pro51Ala)
c.232C>G (p.Pro78Ala)
n.53-229C>G
c.160C>G (p.Pro54Ala)
c.217-229C>G (n.217-229C>G)
c.265C>G (p.Pro89Ala)
17g.63837466G>TCA400601494SMARCD2n.264C>A
n.10C>A
c.235C>A (p.Pro79Thr)
c.39C>A
c.193C>A (p.Pro65Thr)
c.376C>A (p.Pro126Thr)
c.151C>A (p.Pro51Thr)
c.232C>A (p.Pro78Thr)
n.53-229C>A
c.160C>A (p.Pro54Thr)
c.217-229C>A (n.217-229C>A)
c.265C>A (p.Pro89Thr)
17g.63837467C>ACA400601495SMARCD2n.263G>T
n.9G>T
c.234G>T (p.Gln78His)
c.38G>T
c.192G>T (p.Gln64His)
c.375G>T (p.Gln125His)
c.150G>T (p.Gln50His)
c.231G>T (p.Gln77His)
n.53-230G>T
c.159G>T (p.Gln53His)
c.217-230G>T (n.217-230G>T)
c.264G>T (p.Gln88His)
 gnomAD v4
17g.63837467C>GCA400601496SMARCD2n.263G>C
n.9G>C
c.234G>C (p.Gln78His)
c.38G>C
c.192G>C (p.Gln64His)
c.375G>C (p.Gln125His)
c.150G>C (p.Gln50His)
c.231G>C (p.Gln77His)
n.53-230G>C
c.159G>C (p.Gln53His)
c.217-230G>C (n.217-230G>C)
c.264G>C (p.Gln88His)
17g.63837467C>TCA501202297SMARCD2n.263G>A
n.9G>A
c.234G>A (p.Gln78=)
c.38G>A
c.192G>A (p.Gln64=)
c.375G>A (p.Gln125=)
c.150G>A (p.Gln50=)
c.231G>A (p.Gln77=)
n.53-230G>A
c.159G>A (p.Gln53=)
c.217-230G>A (n.217-230G>A)
c.264G>A (p.Gln88=)
17g.63837468T>ACA400601497SMARCD2n.262A>T
n.8A>T
c.233A>T (p.Gln78Leu)
c.37A>T
c.191A>T (p.Gln64Leu)
c.374A>T (p.Gln125Leu)
c.149A>T (p.Gln50Leu)
c.230A>T (p.Gln77Leu)
n.53-231A>T
c.158A>T (p.Gln53Leu)
c.217-231A>T (n.217-231A>T)
c.263A>T (p.Gln88Leu)
17g.63837468T>CCA400601499SMARCD2n.262A>G
n.8A>G
c.233A>G (p.Gln78Arg)
c.37A>G
c.191A>G (p.Gln64Arg)
c.374A>G (p.Gln125Arg)
c.149A>G (p.Gln50Arg)
c.230A>G (p.Gln77Arg)
n.53-231A>G
c.158A>G (p.Gln53Arg)
c.217-231A>G (n.217-231A>G)
c.263A>G (p.Gln88Arg)
17g.63837468T>GCA400601498SMARCD2n.262A>C
n.8A>C
c.233A>C (p.Gln78Pro)
c.37A>C
c.191A>C (p.Gln64Pro)
c.374A>C (p.Gln125Pro)
c.149A>C (p.Gln50Pro)
c.230A>C (p.Gln77Pro)
n.53-231A>C
c.158A>C (p.Gln53Pro)
c.217-231A>C (n.217-231A>C)
c.263A>C (p.Gln88Pro)
17g.63837469G>ACA400601500SMARCD2n.261C>T
n.7C>T
c.232C>T (p.Gln78Ter)
c.36C>T
c.190C>T (p.Gln64Ter)
c.373C>T (p.Gln125Ter)
c.148C>T (p.Gln50Ter)
c.229C>T (p.Gln77Ter)
n.53-232C>T
c.157C>T (p.Gln53Ter)
c.217-232C>T (n.217-232C>T)
c.262C>T (p.Gln88Ter)
17g.63837469G>CCA400601501SMARCD2n.261C>G
n.7C>G
c.232C>G (p.Gln78Glu)
c.36C>G
c.190C>G (p.Gln64Glu)
c.373C>G (p.Gln125Glu)
c.148C>G (p.Gln50Glu)
c.229C>G (p.Gln77Glu)
n.53-232C>G
c.157C>G (p.Gln53Glu)
c.217-232C>G (n.217-232C>G)
c.262C>G (p.Gln88Glu)
17g.63837469G>TCA400601502SMARCD2n.261C>A
n.7C>A
c.232C>A (p.Gln78Lys)
c.36C>A
c.190C>A (p.Gln64Lys)
c.373C>A (p.Gln125Lys)
c.148C>A (p.Gln50Lys)
c.229C>A (p.Gln77Lys)
n.53-232C>A
c.157C>A (p.Gln53Lys)
c.217-232C>A (n.217-232C>A)
c.262C>A (p.Gln88Lys)
17g.63837470C>ACA501202299SMARCD2n.260G>T
n.6G>T
c.231G>T (p.Ala77=)
c.35G>T
c.189G>T (p.Ala63=)
c.372G>T (p.Ala124=)
c.147G>T (p.Ala49=)
c.228G>T (p.Ala76=)
n.53-233G>T
c.156G>T (p.Ala52=)
c.217-233G>T (n.217-233G>T)
c.261G>T (p.Ala87=)
 gnomAD v4
17g.63837470C=CA2270105549SMARCD2n.260G=
n.6G=
c.231G= (p.Ala77=)
c.35G=
c.189G= (p.Ala63=)
c.372G= (p.Ala124=)
c.147G= (p.Ala49=)
c.228G= (p.Ala76=)
n.53-233G=
c.156G= (p.Ala52=)
c.217-233G= (n.217-233G=)
c.261G= (p.Ala87=)
17g.63837470C>GCA501202301SMARCD2n.260G>C
n.6G>C
c.231G>C (p.Ala77=)
c.35G>C
c.189G>C (p.Ala63=)
c.372G>C (p.Ala124=)
c.147G>C (p.Ala49=)
c.228G>C (p.Ala76=)
n.53-233G>C
c.156G>C (p.Ala52=)
c.217-233G>C (n.217-233G>C)
c.261G>C (p.Ala87=)
 ClinVar dbSNP
17g.63837470C>TCA8706517SMARCD2n.260G>A
n.6G>A
c.231G>A (p.Ala77=)
c.35G>A
c.189G>A (p.Ala63=)
c.372G>A (p.Ala124=)
c.147G>A (p.Ala49=)
c.228G>A (p.Ala76=)
n.53-233G>A
c.156G>A (p.Ala52=)
c.217-233G>A (n.217-233G>A)
c.261G>A (p.Ala87=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.63837471G>ACA8706518SMARCD2n.259C>T
n.5C>T
c.230C>T (p.Ala77Val)
c.34C>T
c.188C>T (p.Ala63Val)
c.371C>T (p.Ala124Val)
c.146C>T (p.Ala49Val)
c.227C>T (p.Ala76Val)
n.53-234C>T
c.155C>T (p.Ala52Val)
c.217-234C>T (n.217-234C>T)
c.260C>T (p.Ala87Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63837471G>CCA400601503SMARCD2n.259C>G
n.5C>G
c.230C>G (p.Ala77Gly)
c.34C>G
c.188C>G (p.Ala63Gly)
c.371C>G (p.Ala124Gly)
c.146C>G (p.Ala49Gly)
c.227C>G (p.Ala76Gly)
n.53-234C>G
c.155C>G (p.Ala52Gly)
c.217-234C>G (n.217-234C>G)
c.260C>G (p.Ala87Gly)
17g.63837471G=CA2270105550SMARCD2n.259C=
n.5C=
c.230C= (p.Ala77=)
c.34C=
c.188C= (p.Ala63=)
c.371C= (p.Ala124=)
c.146C= (p.Ala49=)
c.227C= (p.Ala76=)
n.53-234C=
c.155C= (p.Ala52=)
c.217-234C= (n.217-234C=)
c.260C= (p.Ala87=)
17g.63837471G>TCA400601504SMARCD2n.259C>A
n.5C>A
c.230C>A (p.Ala77Glu)
c.34C>A
c.188C>A (p.Ala63Glu)
c.371C>A (p.Ala124Glu)
c.146C>A (p.Ala49Glu)
c.227C>A (p.Ala76Glu)
n.53-234C>A
c.155C>A (p.Ala52Glu)
c.217-234C>A (n.217-234C>A)
c.260C>A (p.Ala87Glu)
17g.63837472C>ACA400601505SMARCD2n.258G>T
n.4G>T
c.229G>T (p.Ala77Ser)
c.33G>T
c.187G>T (p.Ala63Ser)
c.370G>T (p.Ala124Ser)
c.145G>T (p.Ala49Ser)
c.226G>T (p.Ala76Ser)
n.53-235G>T
c.154G>T (p.Ala52Ser)
c.217-235G>T (n.217-235G>T)
c.259G>T (p.Ala87Ser)
 gnomAD v4
17g.63837472C>GCA400601506SMARCD2n.258G>C
n.4G>C
c.229G>C (p.Ala77Pro)
c.33G>C
c.187G>C (p.Ala63Pro)
c.370G>C (p.Ala124Pro)
c.145G>C (p.Ala49Pro)
c.226G>C (p.Ala76Pro)
n.53-235G>C
c.154G>C (p.Ala52Pro)
c.217-235G>C (n.217-235G>C)
c.259G>C (p.Ala87Pro)
17g.63837472C>TCA400601507SMARCD2n.258G>A
n.4G>A
c.229G>A (p.Ala77Thr)
c.33G>A
c.187G>A (p.Ala63Thr)
c.370G>A (p.Ala124Thr)
c.145G>A (p.Ala49Thr)
c.226G>A (p.Ala76Thr)
n.53-235G>A
c.154G>A (p.Ala52Thr)
c.217-235G>A (n.217-235G>A)
c.259G>A (p.Ala87Thr)
17g.63837473C>ACA400601508SMARCD2n.257G>T
n.3G>T
c.228G>T (p.Gln76His)
c.32G>T
c.186G>T (p.Gln62His)
c.369G>T (p.Gln123His)
c.144G>T (p.Gln48His)
c.225G>T (p.Gln75His)
n.53-236G>T
c.153G>T (p.Gln51His)
c.217-236G>T (n.217-236G>T)
c.258G>T (p.Gln86His)
17g.63837473C>GCA400601509SMARCD2n.257G>C
n.3G>C
c.228G>C (p.Gln76His)
c.32G>C
c.186G>C (p.Gln62His)
c.369G>C (p.Gln123His)
c.144G>C (p.Gln48His)
c.225G>C (p.Gln75His)
n.53-236G>C
c.153G>C (p.Gln51His)
c.217-236G>C (n.217-236G>C)
c.258G>C (p.Gln86His)
17g.63837473C>TCA501202306SMARCD2n.257G>A
n.3G>A
c.228G>A (p.Gln76=)
c.32G>A
c.186G>A (p.Gln62=)
c.369G>A (p.Gln123=)
c.144G>A (p.Gln48=)
c.225G>A (p.Gln75=)
n.53-236G>A
c.153G>A (p.Gln51=)
c.217-236G>A (n.217-236G>A)
c.258G>A (p.Gln86=)
17g.63837474T>ACA400601512SMARCD2n.256A>T
n.2A>T
c.227A>T (p.Gln76Leu)
c.31A>T
c.185A>T (p.Gln62Leu)
c.368A>T (p.Gln123Leu)
c.143A>T (p.Gln48Leu)
c.224A>T (p.Gln75Leu)
n.53-237A>T
c.152A>T (p.Gln51Leu)
c.217-237A>T (n.217-237A>T)
c.257A>T (p.Gln86Leu)
17g.63837474T>CCA400601511SMARCD2n.256A>G
n.2A>G
c.227A>G (p.Gln76Arg)
c.31A>G
c.185A>G (p.Gln62Arg)
c.368A>G (p.Gln123Arg)
c.143A>G (p.Gln48Arg)
c.224A>G (p.Gln75Arg)
n.53-237A>G
c.152A>G (p.Gln51Arg)
c.217-237A>G (n.217-237A>G)
c.257A>G (p.Gln86Arg)
17g.63837474T>GCA400601510SMARCD2n.256A>C
n.2A>C
c.227A>C (p.Gln76Pro)
c.31A>C
c.185A>C (p.Gln62Pro)
c.368A>C (p.Gln123Pro)
c.143A>C (p.Gln48Pro)
c.224A>C (p.Gln75Pro)
n.53-237A>C
c.152A>C (p.Gln51Pro)
c.217-237A>C (n.217-237A>C)
c.257A>C (p.Gln86Pro)
17g.63837475G>ACA400601513SMARCD2n.255C>T
n.1C>T
c.226C>T (p.Gln76Ter)
c.30C>T
c.184C>T (p.Gln62Ter)
c.367C>T (p.Gln123Ter)
c.142C>T (p.Gln48Ter)
c.223C>T (p.Gln75Ter)
n.53-238C>T
c.151C>T (p.Gln51Ter)
c.217-238C>T (n.217-238C>T)
c.256C>T (p.Gln86Ter)
17g.63837475G>CCA400601515SMARCD2n.255C>G
n.1C>G
c.226C>G (p.Gln76Glu)
c.30C>G
c.184C>G (p.Gln62Glu)
c.367C>G (p.Gln123Glu)
c.142C>G (p.Gln48Glu)
c.223C>G (p.Gln75Glu)
n.53-238C>G
c.151C>G (p.Gln51Glu)
c.217-238C>G (n.217-238C>G)
c.256C>G (p.Gln86Glu)
17g.63837475G>TCA400601514SMARCD2n.255C>A
n.1C>A
c.226C>A (p.Gln76Lys)
c.30C>A
c.184C>A (p.Gln62Lys)
c.367C>A (p.Gln123Lys)
c.142C>A (p.Gln48Lys)
c.223C>A (p.Gln75Lys)
n.53-238C>A
c.151C>A (p.Gln51Lys)
c.217-238C>A (n.217-238C>A)
c.256C>A (p.Gln86Lys)
 gnomAD v4
17g.63837478delCA2639301695SMARCD2n.255del
c.226del (p.Gln76ArgfsTer13)
c.30del
c.184del (p.Gln62ArgfsTer13)
c.367del (p.Gln123ArgfsTer13)
c.142del (p.Gln48ArgfsTer13)
c.223del (p.Gln75ArgfsTer13)
n.53-238del
c.151del (p.Gln51ArgfsTer13)
c.217-238del (n.217-238del)
c.256del (p.Gln86ArgfsTer13)
 gnomAD v4
17g.63837476G>ACA501202307SMARCD2n.254C>T
c.225C>T (p.Pro75=)
c.29C>T
c.183C>T (p.Pro61=)
c.366C>T (p.Pro122=)
c.141C>T (p.Pro47=)
c.222C>T (p.Pro74=)
n.53-239C>T
c.150C>T (p.Pro50=)
c.217-239C>T (n.217-239C>T)
c.255C>T (p.Pro85=)
17g.63837476G>CCA501202308SMARCD2n.254C>G
c.225C>G (p.Pro75=)
c.29C>G
c.183C>G (p.Pro61=)
c.366C>G (p.Pro122=)
c.141C>G (p.Pro47=)
c.222C>G (p.Pro74=)
n.53-239C>G
c.150C>G (p.Pro50=)
c.217-239C>G (n.217-239C>G)
c.255C>G (p.Pro85=)
17g.63837476G>TCA501202309SMARCD2n.254C>A
c.225C>A (p.Pro75=)
c.29C>A
c.183C>A (p.Pro61=)
c.366C>A (p.Pro122=)
c.141C>A (p.Pro47=)
c.222C>A (p.Pro74=)
n.53-239C>A
c.150C>A (p.Pro50=)
c.217-239C>A (n.217-239C>A)
c.255C>A (p.Pro85=)
17g.63837477G>ACA292954735SMARCD2n.253C>T
c.224C>T (p.Pro75Leu)
c.28C>T
c.182C>T (p.Pro61Leu)
c.365C>T (p.Pro122Leu)
c.140C>T (p.Pro47Leu)
c.221C>T (p.Pro74Leu)
n.53-240C>T
c.149C>T (p.Pro50Leu)
c.217-240C>T (n.217-240C>T)
c.254C>T (p.Pro85Leu)
 dbSNP
17g.63837477G>CCA8706519SMARCD2n.253C>G
c.224C>G (p.Pro75Arg)
c.28C>G
c.182C>G (p.Pro61Arg)
c.365C>G (p.Pro122Arg)
c.140C>G (p.Pro47Arg)
c.221C>G (p.Pro74Arg)
n.53-240C>G
c.149C>G (p.Pro50Arg)
c.217-240C>G (n.217-240C>G)
c.254C>G (p.Pro85Arg)
 dbSNP ExAC gnomAD v2
17g.63837477G=CA2270105551SMARCD2n.253C=
c.224C= (p.Pro75=)
c.28C=
c.182C= (p.Pro61=)
c.365C= (p.Pro122=)
c.140C= (p.Pro47=)
c.221C= (p.Pro74=)
n.53-240C=
c.149C= (p.Pro50=)
c.217-240C= (n.217-240C=)
c.254C= (p.Pro85=)
17g.63837477G>TCA400601516SMARCD2n.253C>A
c.224C>A (p.Pro75His)
c.28C>A
c.182C>A (p.Pro61His)
c.365C>A (p.Pro122His)
c.140C>A (p.Pro47His)
c.221C>A (p.Pro74His)
n.53-240C>A
c.149C>A (p.Pro50His)
c.217-240C>A (n.217-240C>A)
c.254C>A (p.Pro85His)
17g.63837478G>ACA400601517SMARCD2n.252C>T
c.223C>T (p.Pro75Ser)
c.27C>T
c.181C>T (p.Pro61Ser)
c.364C>T (p.Pro122Ser)
c.139C>T (p.Pro47Ser)
c.220C>T (p.Pro74Ser)
n.53-241C>T
c.148C>T (p.Pro50Ser)
c.217-241C>T (n.217-241C>T)
c.253C>T (p.Pro85Ser)
 gnomAD v4
17g.63837478G>CCA400601518SMARCD2n.252C>G
c.223C>G (p.Pro75Ala)
c.27C>G
c.181C>G (p.Pro61Ala)
c.364C>G (p.Pro122Ala)
c.139C>G (p.Pro47Ala)
c.220C>G (p.Pro74Ala)
n.53-241C>G
c.148C>G (p.Pro50Ala)
c.217-241C>G (n.217-241C>G)
c.253C>G (p.Pro85Ala)
17g.63837478G=CA2270105552SMARCD2n.252C=
c.223C= (p.Pro75=)
c.27C=
c.181C= (p.Pro61=)
c.364C= (p.Pro122=)
c.139C= (p.Pro47=)
c.220C= (p.Pro74=)
n.53-241C=
c.148C= (p.Pro50=)
c.217-241C= (n.217-241C=)
c.253C= (p.Pro85=)
17g.63837478G>TCA400601519SMARCD2n.252C>A
c.223C>A (p.Pro75Thr)
c.27C>A
c.181C>A (p.Pro61Thr)
c.364C>A (p.Pro122Thr)
c.139C>A (p.Pro47Thr)
c.220C>A (p.Pro74Thr)
n.53-241C>A
c.148C>A (p.Pro50Thr)
c.217-241C>A (n.217-241C>A)
c.253C>A (p.Pro85Thr)
 gnomAD v4
17g.63837479C>ACA501202312SMARCD2n.251G>T
c.222G>T (p.Val74=)
c.26G>T
c.180G>T (p.Val60=)
c.363G>T (p.Val121=)
c.138G>T (p.Val46=)
c.219G>T (p.Val73=)
n.53-242G>T
c.147G>T (p.Val49=)
c.217-242G>T (n.217-242G>T)
c.252G>T (p.Val84=)
17g.63837479C=CA2270105554SMARCD2n.251G=
c.222G= (p.Val74=)
c.26G=
c.180G= (p.Val60=)
c.363G= (p.Val121=)
c.138G= (p.Val46=)
c.219G= (p.Val73=)
n.53-242G=
c.147G= (p.Val49=)
c.217-242G= (n.217-242G=)
c.252G= (p.Val84=)
17g.63837479C>GCA501202313SMARCD2n.251G>C
c.222G>C (p.Val74=)
c.26G>C
c.180G>C (p.Val60=)
c.363G>C (p.Val121=)
c.138G>C (p.Val46=)
c.219G>C (p.Val73=)
n.53-242G>C
c.147G>C (p.Val49=)
c.217-242G>C (n.217-242G>C)
c.252G>C (p.Val84=)
17g.63837479C>TCA501202315SMARCD2n.251G>A
c.222G>A (p.Val74=)
c.26G>A
c.180G>A (p.Val60=)
c.363G>A (p.Val121=)
c.138G>A (p.Val46=)
c.219G>A (p.Val73=)
n.53-242G>A
c.147G>A (p.Val49=)
c.217-242G>A (n.217-242G>A)
c.252G>A (p.Val84=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63837479_63837482dupCA2270105553SMARCD2n.248_251dup
c.219_222dup (p.Pro75CysfsTer23)
c.23_26dup
c.177_180dup (p.Pro61CysfsTer23)
c.360_363dup (p.Pro122CysfsTer23)
c.135_138dup (p.Pro47CysfsTer23)
c.216_219dup (p.Pro74CysfsTer23)
n.53-245_53-242dup
c.144_147dup (p.Pro50CysfsTer23)
c.217-245_217-242dup (n.217-245_217-242dup)
c.249_252dup (p.Pro85CysfsTer23)
 dbSNP gnomAD v4
17g.63837480A>CCA400601522SMARCD2n.250T>G
c.221T>G (p.Val74Gly)
c.25T>G
c.179T>G (p.Val60Gly)
c.362T>G (p.Val121Gly)
c.137T>G (p.Val46Gly)
c.218T>G (p.Val73Gly)
n.53-243T>G
c.146T>G (p.Val49Gly)
c.217-243T>G (n.217-243T>G)
c.251T>G (p.Val84Gly)
17g.63837480A>GCA400601521SMARCD2n.250T>C
c.221T>C (p.Val74Ala)
c.25T>C
c.179T>C (p.Val60Ala)
c.362T>C (p.Val121Ala)
c.137T>C (p.Val46Ala)
c.218T>C (p.Val73Ala)
n.53-243T>C
c.146T>C (p.Val49Ala)
c.217-243T>C (n.217-243T>C)
c.251T>C (p.Val84Ala)
17g.63837480A>TCA400601520SMARCD2n.250T>A
c.221T>A (p.Val74Glu)
c.25T>A
c.179T>A (p.Val60Glu)
c.362T>A (p.Val121Glu)
c.137T>A (p.Val46Glu)
c.218T>A (p.Val73Glu)
n.53-243T>A
c.146T>A (p.Val49Glu)
c.217-243T>A (n.217-243T>A)
c.251T>A (p.Val84Glu)
17g.63837481C>ACA400601523SMARCD2n.249G>T
c.220G>T (p.Val74Leu)
c.24G>T
c.178G>T (p.Val60Leu)
c.361G>T (p.Val121Leu)
c.136G>T (p.Val46Leu)
c.217G>T (p.Val73Leu)
n.53-244G>T
c.145G>T (p.Val49Leu)
c.217-244G>T (n.217-244G>T)
c.250G>T (p.Val84Leu)
 gnomAD v4
17g.63837481C=CA2270105555SMARCD2n.249G=
c.220G= (p.Val74=)
c.24G=
c.178G= (p.Val60=)
c.361G= (p.Val121=)
c.136G= (p.Val46=)
c.217G= (p.Val73=)
n.53-244G=
c.145G= (p.Val49=)
c.217-244G= (n.217-244G=)
c.250G= (p.Val84=)
17g.63837481C>GCA400601524SMARCD2n.249G>C
c.220G>C (p.Val74Leu)
c.24G>C
c.178G>C (p.Val60Leu)
c.361G>C (p.Val121Leu)
c.136G>C (p.Val46Leu)
c.217G>C (p.Val73Leu)
n.53-244G>C
c.145G>C (p.Val49Leu)
c.217-244G>C (n.217-244G>C)
c.250G>C (p.Val84Leu)
17g.63837481C>TCA8706520SMARCD2n.249G>A
c.220G>A (p.Val74Met)
c.24G>A
c.178G>A (p.Val60Met)
c.361G>A (p.Val121Met)
c.136G>A (p.Val46Met)
c.217G>A (p.Val73Met)
n.53-244G>A
c.145G>A (p.Val49Met)
c.217-244G>A (n.217-244G>A)
c.250G>A (p.Val84Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837482A>CCA501202316SMARCD2n.248T>G
c.219T>G (p.Leu73=)
c.23T>G
c.177T>G (p.Leu59=)
c.360T>G (p.Leu120=)
c.135T>G (p.Leu45=)
c.216T>G (p.Leu72=)
n.53-245T>G
c.144T>G (p.Leu48=)
c.217-245T>G (n.217-245T>G)
c.249T>G (p.Leu83=)
17g.63837482A>GCA501202320SMARCD2n.248T>C
c.219T>C (p.Leu73=)
c.23T>C
c.177T>C (p.Leu59=)
c.360T>C (p.Leu120=)
c.135T>C (p.Leu45=)
c.216T>C (p.Leu72=)
n.53-245T>C
c.144T>C (p.Leu48=)
c.217-245T>C (n.217-245T>C)
c.249T>C (p.Leu83=)
17g.63837482A>TCA501202318SMARCD2n.248T>A
c.219T>A (p.Leu73=)
c.23T>A
c.177T>A (p.Leu59=)
c.360T>A (p.Leu120=)
c.135T>A (p.Leu45=)
c.216T>A (p.Leu72=)
n.53-245T>A
c.144T>A (p.Leu48=)
c.217-245T>A (n.217-245T>A)
c.249T>A (p.Leu83=)
17g.63837483A=CA2270105556SMARCD2n.247T=
c.218T= (p.Leu73=)
c.22T=
c.176T= (p.Leu59=)
c.359T= (p.Leu120=)
c.134T= (p.Leu45=)
c.215T= (p.Leu72=)
n.53-246T=
c.143T= (p.Leu48=)
c.217-246T= (n.217-246T=)
c.248T= (p.Leu83=)
17g.63837483A>CCA400601525SMARCD2n.247T>G
c.218T>G (p.Leu73Arg)
c.22T>G
c.176T>G (p.Leu59Arg)
c.359T>G (p.Leu120Arg)
c.134T>G (p.Leu45Arg)
c.215T>G (p.Leu72Arg)
n.53-246T>G
c.143T>G (p.Leu48Arg)
c.217-246T>G (n.217-246T>G)
c.248T>G (p.Leu83Arg)
17g.63837483A>GCA400601526SMARCD2n.247T>C
c.218T>C (p.Leu73Pro)
c.22T>C
c.176T>C (p.Leu59Pro)
c.359T>C (p.Leu120Pro)
c.134T>C (p.Leu45Pro)
c.215T>C (p.Leu72Pro)
n.53-246T>C
c.143T>C (p.Leu48Pro)
c.217-246T>C (n.217-246T>C)
c.248T>C (p.Leu83Pro)
17g.63837483A>TCA400601527SMARCD2n.247T>A
c.218T>A (p.Leu73His)
c.22T>A
c.176T>A (p.Leu59His)
c.359T>A (p.Leu120His)
c.134T>A (p.Leu45His)
c.215T>A (p.Leu72His)
n.53-246T>A
c.143T>A (p.Leu48His)
c.217-246T>A (n.217-246T>A)
c.248T>A (p.Leu83His)
 dbSNP gnomAD v2 gnomAD v4
17g.63837484delCA2639301696SMARCD2n.246del
c.217del (p.Val74CysfsTer15)
c.21del
c.175del (p.Val60CysfsTer15)
c.358del (p.Val121CysfsTer15)
c.133del (p.Val46CysfsTer15)
c.214del (p.Val73CysfsTer15)
n.53-247del
c.142del (p.Val49CysfsTer15)
c.217-247del (n.217-247del)
c.247del (p.Val84CysfsTer15)
 gnomAD v4
17g.63837484G>ACA400601528SMARCD2n.246C>T
c.217C>T (p.Leu73Phe)
c.21C>T
c.175C>T (p.Leu59Phe)
c.358C>T (p.Leu120Phe)
c.133C>T (p.Leu45Phe)
c.214C>T (p.Leu72Phe)
n.53-247C>T
c.142C>T (p.Leu48Phe)
c.217-247C>T (n.217-247C>T)
c.247C>T (p.Leu83Phe)
17g.63837484G>CCA400601530SMARCD2n.246C>G
c.217C>G (p.Leu73Val)
c.21C>G
c.175C>G (p.Leu59Val)
c.358C>G (p.Leu120Val)
c.133C>G (p.Leu45Val)
c.214C>G (p.Leu72Val)
n.53-247C>G
c.142C>G (p.Leu48Val)
c.217-247C>G (n.217-247C>G)
c.247C>G (p.Leu83Val)
17g.63837484G>TCA400601529SMARCD2n.246C>A
c.217C>A (p.Leu73Ile)
c.21C>A
c.175C>A (p.Leu59Ile)
c.358C>A (p.Leu120Ile)
c.133C>A (p.Leu45Ile)
c.214C>A (p.Leu72Ile)
n.53-247C>A
c.142C>A (p.Leu48Ile)
c.217-247C>A (n.217-247C>A)
c.247C>A (p.Leu83Ile)
17g.63837485C>ACA501202321SMARCD2n.245G>T
c.216G>T (p.Leu72=)
c.20G>T
c.174G>T (p.Leu58=)
c.357G>T (p.Leu119=)
c.132G>T (p.Leu44=)
c.213G>T (p.Leu71=)
n.53-248G>T
c.141G>T (p.Leu47=)
c.217-248G>T (n.217-248G>T)
c.246G>T (p.Leu82=)
17g.63837485C>GCA501202322SMARCD2n.245G>C
c.216G>C (p.Leu72=)
c.20G>C
c.174G>C (p.Leu58=)
c.357G>C (p.Leu119=)
c.132G>C (p.Leu44=)
c.213G>C (p.Leu71=)
n.53-248G>C
c.141G>C (p.Leu47=)
c.217-248G>C (n.217-248G>C)
c.246G>C (p.Leu82=)
17g.63837485C>TCA501202324SMARCD2n.245G>A
c.216G>A (p.Leu72=)
c.20G>A
c.174G>A (p.Leu58=)
c.357G>A (p.Leu119=)
c.132G>A (p.Leu44=)
c.213G>A (p.Leu71=)
n.53-248G>A
c.141G>A (p.Leu47=)
c.217-248G>A (n.217-248G>A)
c.246G>A (p.Leu82=)
17g.63837486A>CCA400601531SMARCD2n.244T>G
c.215T>G (p.Leu72Arg)
c.19T>G
c.173T>G (p.Leu58Arg)
c.356T>G (p.Leu119Arg)
c.131T>G (p.Leu44Arg)
c.212T>G (p.Leu71Arg)
n.53-249T>G
c.140T>G (p.Leu47Arg)
c.217-249T>G (n.217-249T>G)
c.245T>G (p.Leu82Arg)
17g.63837486A>GCA400601532SMARCD2n.244T>C
c.215T>C (p.Leu72Pro)
c.19T>C
c.173T>C (p.Leu58Pro)
c.356T>C (p.Leu119Pro)
c.131T>C (p.Leu44Pro)
c.212T>C (p.Leu71Pro)
n.53-249T>C
c.140T>C (p.Leu47Pro)
c.217-249T>C (n.217-249T>C)
c.245T>C (p.Leu82Pro)
17g.63837486A>TCA400601533SMARCD2n.244T>A
c.215T>A (p.Leu72Gln)
c.19T>A
c.173T>A (p.Leu58Gln)
c.356T>A (p.Leu119Gln)
c.131T>A (p.Leu44Gln)
c.212T>A (p.Leu71Gln)
n.53-249T>A
c.140T>A (p.Leu47Gln)
c.217-249T>A (n.217-249T>A)
c.245T>A (p.Leu82Gln)
17g.63837487G>ACA292954737SMARCD2n.243C>T
c.214C>T (p.Leu72=)
c.18C>T
c.172C>T (p.Leu58=)
c.355C>T (p.Leu119=)
c.130C>T (p.Leu44=)
c.211C>T (p.Leu71=)
n.53-250C>T
c.139C>T (p.Leu47=)
c.217-250C>T (n.217-250C>T)
c.244C>T (p.Leu82=)
 dbSNP gnomAD v4
17g.63837487G>CCA400601534SMARCD2n.243C>G
c.214C>G (p.Leu72Val)
c.18C>G
c.172C>G (p.Leu58Val)
c.355C>G (p.Leu119Val)
c.130C>G (p.Leu44Val)
c.211C>G (p.Leu71Val)
n.53-250C>G
c.139C>G (p.Leu47Val)
c.217-250C>G (n.217-250C>G)
c.244C>G (p.Leu82Val)
17g.63837487G=CA2270105557SMARCD2n.243C=
c.214C= (p.Leu72=)
c.18C=
c.172C= (p.Leu58=)
c.355C= (p.Leu119=)
c.130C= (p.Leu44=)
c.211C= (p.Leu71=)
n.53-250C=
c.139C= (p.Leu47=)
c.217-250C= (n.217-250C=)
c.244C= (p.Leu82=)
17g.63837487G>TCA400601535SMARCD2n.243C>A
c.214C>A (p.Leu72Met)
c.18C>A
c.172C>A (p.Leu58Met)
c.355C>A (p.Leu119Met)
c.130C>A (p.Leu44Met)
c.211C>A (p.Leu71Met)
n.53-250C>A
c.139C>A (p.Leu47Met)
c.217-250C>A (n.217-250C>A)
c.244C>A (p.Leu82Met)
17g.63837488G>ACA501202325SMARCD2n.242C>T
c.213C>T (p.Arg71=)
c.17C>T
c.171C>T (p.Arg57=)
c.354C>T (p.Arg118=)
c.129C>T (p.Arg43=)
c.210C>T (p.Arg70=)
n.53-251C>T
c.138C>T (p.Arg46=)
c.217-251C>T (n.217-251C>T)
c.243C>T (p.Arg81=)
17g.63837488G>CCA501202326SMARCD2n.242C>G
c.213C>G (p.Arg71=)
c.17C>G
c.171C>G (p.Arg57=)
c.354C>G (p.Arg118=)
c.129C>G (p.Arg43=)
c.210C>G (p.Arg70=)
n.53-251C>G
c.138C>G (p.Arg46=)
c.217-251C>G (n.217-251C>G)
c.243C>G (p.Arg81=)
17g.63837488G>TCA501202327SMARCD2n.242C>A
c.213C>A (p.Arg71=)
c.17C>A
c.171C>A (p.Arg57=)
c.354C>A (p.Arg118=)
c.129C>A (p.Arg43=)
c.210C>A (p.Arg70=)
n.53-251C>A
c.138C>A (p.Arg46=)
c.217-251C>A (n.217-251C>A)
c.243C>A (p.Arg81=)
17g.63837489C>ACA400601536SMARCD2n.241G>T
c.212G>T (p.Arg71Leu)
c.16G>T
c.170G>T (p.Arg57Leu)
c.353G>T (p.Arg118Leu)
c.128G>T (p.Arg43Leu)
c.209G>T (p.Arg70Leu)
n.53-252G>T
c.137G>T (p.Arg46Leu)
c.217-252G>T (n.217-252G>T)
c.242G>T (p.Arg81Leu)
 gnomAD v4
17g.63837489C=CA2270105558SMARCD2n.241G=
c.212G= (p.Arg71=)
c.16G=
c.170G= (p.Arg57=)
c.353G= (p.Arg118=)
c.128G= (p.Arg43=)
c.209G= (p.Arg70=)
n.53-252G=
c.137G= (p.Arg46=)
c.217-252G= (n.217-252G=)
c.242G= (p.Arg81=)
17g.63837489C>GCA400601537SMARCD2n.241G>C
c.212G>C (p.Arg71Pro)
c.16G>C
c.170G>C (p.Arg57Pro)
c.353G>C (p.Arg118Pro)
c.128G>C (p.Arg43Pro)
c.209G>C (p.Arg70Pro)
n.53-252G>C
c.137G>C (p.Arg46Pro)
c.217-252G>C (n.217-252G>C)
c.242G>C (p.Arg81Pro)
17g.63837489C>TCA400601538SMARCD2n.241G>A
c.212G>A (p.Arg71His)
c.16G>A
c.170G>A (p.Arg57His)
c.353G>A (p.Arg118His)
c.128G>A (p.Arg43His)
c.209G>A (p.Arg70His)
n.53-252G>A
c.137G>A (p.Arg46His)
c.217-252G>A (n.217-252G>A)
c.242G>A (p.Arg81His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63837490G>ACA292954742SMARCD2n.240C>T
c.211C>T (p.Arg71Cys)
c.15C>T
c.169C>T (p.Arg57Cys)
c.352C>T (p.Arg118Cys)
c.127C>T (p.Arg43Cys)
c.208C>T (p.Arg70Cys)
n.53-253C>T
c.136C>T (p.Arg46Cys)
c.217-253C>T (n.217-253C>T)
c.241C>T (p.Arg81Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63837490G>CCA400601539SMARCD2n.240C>G
c.211C>G (p.Arg71Gly)
c.15C>G
c.169C>G (p.Arg57Gly)
c.352C>G (p.Arg118Gly)
c.127C>G (p.Arg43Gly)
c.208C>G (p.Arg70Gly)
n.53-253C>G
c.136C>G (p.Arg46Gly)
c.217-253C>G (n.217-253C>G)
c.241C>G (p.Arg81Gly)
17g.63837490G=CA2270105560SMARCD2n.240C=
c.211C= (p.Arg71=)
c.15C=
c.169C= (p.Arg57=)
c.352C= (p.Arg118=)
c.127C= (p.Arg43=)
c.208C= (p.Arg70=)
n.53-253C=
c.136C= (p.Arg46=)
c.217-253C= (n.217-253C=)
c.241C= (p.Arg81=)
17g.63837490G>TCA400601540SMARCD2n.240C>A
c.211C>A (p.Arg71Ser)
c.15C>A
c.169C>A (p.Arg57Ser)
c.352C>A (p.Arg118Ser)
c.127C>A (p.Arg43Ser)
c.208C>A (p.Arg70Ser)
n.53-253C>A
c.136C>A (p.Arg46Ser)
c.217-253C>A (n.217-253C>A)
c.241C>A (p.Arg81Ser)
17g.63837490_63837491delinsGTCA2270105559SMARCD2n.239_240delinsAC
c.210_211delinsAC (p.Lys70=)
c.14_15delinsAC
c.168_169delinsAC (p.Lys56=)
c.351_352delinsAC (p.Lys117=)
c.126_127delinsAC (p.Lys42=)
c.207_208delinsAC (p.Lys69=)
n.53-254_53-253delinsAC
c.135_136delinsAC (p.Lys45=)
c.217-254_217-253delinsAC (n.217-254_217-253delinsAC)
c.240_241delinsAC (p.Lys80=)
17g.63837491T>ACA400601541SMARCD2n.239A>T
c.210A>T (p.Lys70Asn)
c.14A>T
c.168A>T (p.Lys56Asn)
c.351A>T (p.Lys117Asn)
c.126A>T (p.Lys42Asn)
c.207A>T (p.Lys69Asn)
n.53-254A>T
c.135A>T (p.Lys45Asn)
c.217-254A>T (n.217-254A>T)
c.240A>T (p.Lys80Asn)
 gnomAD v4
17g.63837491T>CCA8706521SMARCD2n.239A>G
c.210A>G (p.Lys70=)
c.14A>G
c.168A>G (p.Lys56=)
c.351A>G (p.Lys117=)
c.126A>G (p.Lys42=)
c.207A>G (p.Lys69=)
n.53-254A>G
c.135A>G (p.Lys45=)
c.217-254A>G (n.217-254A>G)
c.240A>G (p.Lys80=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837491T>GCA400601542SMARCD2n.239A>C
c.210A>C (p.Lys70Asn)
c.14A>C
c.168A>C (p.Lys56Asn)
c.351A>C (p.Lys117Asn)
c.126A>C (p.Lys42Asn)
c.207A>C (p.Lys69Asn)
n.53-254A>C
c.135A>C (p.Lys45Asn)
c.217-254A>C (n.217-254A>C)
c.240A>C (p.Lys80Asn)
17g.63837491T=CA2270105562SMARCD2n.239A=
c.210A= (p.Lys70=)
c.14A=
c.168A= (p.Lys56=)
c.351A= (p.Lys117=)
c.126A= (p.Lys42=)
c.207A= (p.Lys69=)
n.53-254A=
c.135A= (p.Lys45=)
c.217-254A= (n.217-254A=)
c.240A= (p.Lys80=)
17g.63837494delCA2270105561SMARCD2n.239del
c.210del (p.Lys70AsnfsTer19)
c.14del
c.168del (p.Lys56AsnfsTer19)
c.351del (p.Lys117AsnfsTer19)
c.126del (p.Lys42AsnfsTer19)
c.207del (p.Lys69AsnfsTer19)
n.53-254del
c.135del (p.Lys45AsnfsTer19)
c.217-254del (n.217-254del)
c.240del (p.Lys80AsnfsTer19)
 dbSNP
17g.63837492T>ACA400601543SMARCD2n.238A>T
c.209A>T (p.Lys70Ile)
c.13A>T
c.167A>T (p.Lys56Ile)
c.350A>T (p.Lys117Ile)
c.125A>T (p.Lys42Ile)
c.206A>T (p.Lys69Ile)
n.53-255A>T
c.134A>T (p.Lys45Ile)
c.217-255A>T (n.217-255A>T)
c.239A>T (p.Lys80Ile)
17g.63837492T>CCA400601544SMARCD2n.238A>G
c.209A>G (p.Lys70Arg)
c.13A>G
c.167A>G (p.Lys56Arg)
c.350A>G (p.Lys117Arg)
c.125A>G (p.Lys42Arg)
c.206A>G (p.Lys69Arg)
n.53-255A>G
c.134A>G (p.Lys45Arg)
c.217-255A>G (n.217-255A>G)
c.239A>G (p.Lys80Arg)
17g.63837492T>GCA400601545SMARCD2n.238A>C
c.209A>C (p.Lys70Thr)
c.13A>C
c.167A>C (p.Lys56Thr)
c.350A>C (p.Lys117Thr)
c.125A>C (p.Lys42Thr)
c.206A>C (p.Lys69Thr)
n.53-255A>C
c.134A>C (p.Lys45Thr)
c.217-255A>C (n.217-255A>C)
c.239A>C (p.Lys80Thr)
 dbSNP
17g.63837493T>ACA400601546SMARCD2n.237A>T
c.208A>T (p.Lys70Ter)
c.12A>T
c.166A>T (p.Lys56Ter)
c.349A>T (p.Lys117Ter)
c.124A>T (p.Lys42Ter)
c.205A>T (p.Lys69Ter)
n.53-256A>T
c.133A>T (p.Lys45Ter)
c.217-256A>T (n.217-256A>T)
c.238A>T (p.Lys80Ter)
17g.63837493T>CCA400601547SMARCD2n.237A>G
c.208A>G (p.Lys70Glu)
c.12A>G
c.166A>G (p.Lys56Glu)
c.349A>G (p.Lys117Glu)
c.124A>G (p.Lys42Glu)
c.205A>G (p.Lys69Glu)
n.53-256A>G
c.133A>G (p.Lys45Glu)
c.217-256A>G (n.217-256A>G)
c.238A>G (p.Lys80Glu)
17g.63837493T>GCA400601548SMARCD2n.237A>C
c.208A>C (p.Lys70Gln)
c.12A>C
c.166A>C (p.Lys56Gln)
c.349A>C (p.Lys117Gln)
c.124A>C (p.Lys42Gln)
c.205A>C (p.Lys69Gln)
n.53-256A>C
c.133A>C (p.Lys45Gln)
c.217-256A>C (n.217-256A>C)
c.238A>C (p.Lys80Gln)
17g.63837494T>ACA501202330SMARCD2n.236A>T
c.207A>T (p.Arg69=)
c.11A>T
c.165A>T (p.Arg55=)
c.348A>T (p.Arg116=)
c.123A>T (p.Arg41=)
c.204A>T (p.Arg68=)
n.53-257A>T
c.132A>T (p.Arg44=)
c.217-257A>T (n.217-257A>T)
c.237A>T (p.Arg79=)
17g.63837494T>CCA501202331SMARCD2n.236A>G
c.207A>G (p.Arg69=)
c.11A>G
c.165A>G (p.Arg55=)
c.348A>G (p.Arg116=)
c.123A>G (p.Arg41=)
c.204A>G (p.Arg68=)
n.53-257A>G
c.132A>G (p.Arg44=)
c.217-257A>G (n.217-257A>G)
c.237A>G (p.Arg79=)
17g.63837494T>GCA501202333SMARCD2n.236A>C
c.207A>C (p.Arg69=)
c.11A>C
c.165A>C (p.Arg55=)
c.348A>C (p.Arg116=)
c.123A>C (p.Arg41=)
c.204A>C (p.Arg68=)
n.53-257A>C
c.132A>C (p.Arg44=)
c.217-257A>C (n.217-257A>C)
c.237A>C (p.Arg79=)
17g.63837495C>ACA400601549SMARCD2n.235G>T
c.206G>T (p.Arg69Leu)
c.10G>T
c.164G>T (p.Arg55Leu)
c.347G>T (p.Arg116Leu)
c.122G>T (p.Arg41Leu)
c.203G>T (p.Arg68Leu)
n.53-258G>T
c.131G>T (p.Arg44Leu)
c.217-258G>T (n.217-258G>T)
c.236G>T (p.Arg79Leu)
17g.63837495C=CA2270105563SMARCD2n.235G=
c.206G= (p.Arg69=)
c.10G=
c.164G= (p.Arg55=)
c.347G= (p.Arg116=)
c.122G= (p.Arg41=)
c.203G= (p.Arg68=)
n.53-258G=
c.131G= (p.Arg44=)
c.217-258G= (n.217-258G=)
c.236G= (p.Arg79=)
17g.63837495C>GCA400601550SMARCD2n.235G>C
c.206G>C (p.Arg69Pro)
c.10G>C
c.164G>C (p.Arg55Pro)
c.347G>C (p.Arg116Pro)
c.122G>C (p.Arg41Pro)
c.203G>C (p.Arg68Pro)
n.53-258G>C
c.131G>C (p.Arg44Pro)
c.217-258G>C (n.217-258G>C)
c.236G>C (p.Arg79Pro)
17g.63837495C>TCA400601551SMARCD2n.235G>A
c.206G>A (p.Arg69Gln)
c.10G>A
c.164G>A (p.Arg55Gln)
c.347G>A (p.Arg116Gln)
c.122G>A (p.Arg41Gln)
c.203G>A (p.Arg68Gln)
n.53-258G>A
c.131G>A (p.Arg44Gln)
c.217-258G>A (n.217-258G>A)
c.236G>A (p.Arg79Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.63837496G>ACA8706522SMARCD2n.234C>T
c.205C>T (p.Arg69Ter)
c.9C>T
c.163C>T (p.Arg55Ter)
c.346C>T (p.Arg116Ter)
c.121C>T (p.Arg41Ter)
c.202C>T (p.Arg68Ter)
n.53-259C>T
c.130C>T (p.Arg44Ter)
c.217-259C>T (n.217-259C>T)
c.235C>T (p.Arg79Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837496G>CCA400601552SMARCD2n.234C>G
c.205C>G (p.Arg69Gly)
c.9C>G
c.163C>G (p.Arg55Gly)
c.346C>G (p.Arg116Gly)
c.121C>G (p.Arg41Gly)
c.202C>G (p.Arg68Gly)
n.53-259C>G
c.130C>G (p.Arg44Gly)
c.217-259C>G (n.217-259C>G)
c.235C>G (p.Arg79Gly)
17g.63837496G=CA2270105564SMARCD2n.234C=
c.205C= (p.Arg69=)
c.9C=
c.163C= (p.Arg55=)
c.346C= (p.Arg116=)
c.121C= (p.Arg41=)
c.202C= (p.Arg68=)
n.53-259C=
c.130C= (p.Arg44=)
c.217-259C= (n.217-259C=)
c.235C= (p.Arg79=)
17g.63837496G>TCA501202335SMARCD2n.234C>A
c.205C>A (p.Arg69=)
c.9C>A
c.163C>A (p.Arg55=)
c.346C>A (p.Arg116=)
c.121C>A (p.Arg41=)
c.202C>A (p.Arg68=)
n.53-259C>A
c.130C>A (p.Arg44=)
c.217-259C>A (n.217-259C>A)
c.235C>A (p.Arg79=)
 gnomAD v4
17g.63837497G>ACA501202336SMARCD2n.233C>T
c.204C>T (p.Phe68=)
c.8C>T
c.162C>T (p.Phe54=)
c.345C>T (p.Phe115=)
c.120C>T (p.Phe40=)
c.201C>T (p.Phe67=)
n.53-260C>T
c.129C>T (p.Phe43=)
c.217-260C>T (n.217-260C>T)
c.234C>T (p.Phe78=)
 COSMIC COSMIC
17g.63837497G>CCA400601553SMARCD2n.233C>G
c.204C>G (p.Phe68Leu)
c.8C>G
c.162C>G (p.Phe54Leu)
c.345C>G (p.Phe115Leu)
c.120C>G (p.Phe40Leu)
c.201C>G (p.Phe67Leu)
n.53-260C>G
c.129C>G (p.Phe43Leu)
c.217-260C>G (n.217-260C>G)
c.234C>G (p.Phe78Leu)
17g.63837497G>TCA400601554SMARCD2n.233C>A
c.204C>A (p.Phe68Leu)
c.8C>A
c.162C>A (p.Phe54Leu)
c.345C>A (p.Phe115Leu)
c.120C>A (p.Phe40Leu)
c.201C>A (p.Phe67Leu)
n.53-260C>A
c.129C>A (p.Phe43Leu)
c.217-260C>A (n.217-260C>A)
c.234C>A (p.Phe78Leu)
17g.63837498A>CCA400601555SMARCD2n.232T>G
c.203T>G (p.Phe68Cys)
c.7T>G
c.161T>G (p.Phe54Cys)
c.344T>G (p.Phe115Cys)
c.119T>G (p.Phe40Cys)
c.200T>G (p.Phe67Cys)
n.53-261T>G
c.128T>G (p.Phe43Cys)
c.217-261T>G (n.217-261T>G)
c.233T>G (p.Phe78Cys)
17g.63837498A>GCA400601557SMARCD2n.232T>C
c.203T>C (p.Phe68Ser)
c.7T>C
c.161T>C (p.Phe54Ser)
c.344T>C (p.Phe115Ser)
c.119T>C (p.Phe40Ser)
c.200T>C (p.Phe67Ser)
n.53-261T>C
c.128T>C (p.Phe43Ser)
c.217-261T>C (n.217-261T>C)
c.233T>C (p.Phe78Ser)
17g.63837498A>TCA400601556SMARCD2n.232T>A
c.203T>A (p.Phe68Tyr)
c.7T>A
c.161T>A (p.Phe54Tyr)
c.344T>A (p.Phe115Tyr)
c.119T>A (p.Phe40Tyr)
c.200T>A (p.Phe67Tyr)
n.53-261T>A
c.128T>A (p.Phe43Tyr)
c.217-261T>A (n.217-261T>A)
c.233T>A (p.Phe78Tyr)
17g.63837499A>CCA400601558SMARCD2n.231T>G
c.202T>G (p.Phe68Val)
c.6T>G
c.160T>G (p.Phe54Val)
c.343T>G (p.Phe115Val)
c.118T>G (p.Phe40Val)
c.199T>G (p.Phe67Val)
n.53-262T>G
c.127T>G (p.Phe43Val)
c.217-262T>G (n.217-262T>G)
c.232T>G (p.Phe78Val)
17g.63837499A>GCA400601559SMARCD2n.231T>C
c.202T>C (p.Phe68Leu)
c.6T>C
c.160T>C (p.Phe54Leu)
c.343T>C (p.Phe115Leu)
c.118T>C (p.Phe40Leu)
c.199T>C (p.Phe67Leu)
n.53-262T>C
c.127T>C (p.Phe43Leu)
c.217-262T>C (n.217-262T>C)
c.232T>C (p.Phe78Leu)
17g.63837499A>TCA400601560SMARCD2n.231T>A
c.202T>A (p.Phe68Ile)
c.6T>A
c.160T>A (p.Phe54Ile)
c.343T>A (p.Phe115Ile)
c.118T>A (p.Phe40Ile)
c.199T>A (p.Phe67Ile)
n.53-262T>A
c.127T>A (p.Phe43Ile)
c.217-262T>A (n.217-262T>A)
c.232T>A (p.Phe78Ile)
17g.63837500T>ACA501202340SMARCD2n.230A>T
c.201A>T (p.Pro67=)
c.5A>T
c.159A>T (p.Pro53=)
c.342A>T (p.Pro114=)
c.117A>T (p.Pro39=)
c.198A>T (p.Pro66=)
n.53-263A>T
c.126A>T (p.Pro42=)
c.217-263A>T (n.217-263A>T)
c.231A>T (p.Pro77=)
17g.63837500T>CCA501202341SMARCD2n.230A>G
c.201A>G (p.Pro67=)
c.5A>G
c.159A>G (p.Pro53=)
c.342A>G (p.Pro114=)
c.117A>G (p.Pro39=)
c.198A>G (p.Pro66=)
n.53-263A>G
c.126A>G (p.Pro42=)
c.217-263A>G (n.217-263A>G)
c.231A>G (p.Pro77=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63837500T>GCA501202342SMARCD2n.230A>C
c.201A>C (p.Pro67=)
c.5A>C
c.159A>C (p.Pro53=)
c.342A>C (p.Pro114=)
c.117A>C (p.Pro39=)
c.198A>C (p.Pro66=)
n.53-263A>C
c.126A>C (p.Pro42=)
c.217-263A>C (n.217-263A>C)
c.231A>C (p.Pro77=)
17g.63837500T=CA2270105565SMARCD2n.230A=
c.201A= (p.Pro67=)
c.5A=
c.159A= (p.Pro53=)
c.342A= (p.Pro114=)
c.117A= (p.Pro39=)
c.198A= (p.Pro66=)
n.53-263A=
c.126A= (p.Pro42=)
c.217-263A= (n.217-263A=)
c.231A= (p.Pro77=)
17g.63837501G>ACA400601561SMARCD2n.229C>T
c.200C>T (p.Pro67Leu)
c.4C>T
c.158C>T (p.Pro53Leu)
c.341C>T (p.Pro114Leu)
c.116C>T (p.Pro39Leu)
c.197C>T (p.Pro66Leu)
n.53-264C>T
c.125C>T (p.Pro42Leu)
c.217-264C>T (n.217-264C>T)
c.230C>T (p.Pro77Leu)
17g.63837501G>CCA400601562SMARCD2n.229C>G
c.200C>G (p.Pro67Arg)
c.4C>G
c.158C>G (p.Pro53Arg)
c.341C>G (p.Pro114Arg)
c.116C>G (p.Pro39Arg)
c.197C>G (p.Pro66Arg)
n.53-264C>G
c.125C>G (p.Pro42Arg)
c.217-264C>G (n.217-264C>G)
c.230C>G (p.Pro77Arg)
 dbSNP
17g.63837501G=CA2270105566SMARCD2n.229C=
c.200C= (p.Pro67=)
c.4C=
c.158C= (p.Pro53=)
c.341C= (p.Pro114=)
c.116C= (p.Pro39=)
c.197C= (p.Pro66=)
n.53-264C=
c.125C= (p.Pro42=)
c.217-264C= (n.217-264C=)
c.230C= (p.Pro77=)
17g.63837501G>TCA400601563SMARCD2n.229C>A
c.200C>A (p.Pro67Gln)
c.4C>A
c.158C>A (p.Pro53Gln)
c.341C>A (p.Pro114Gln)
c.116C>A (p.Pro39Gln)
c.197C>A (p.Pro66Gln)
n.53-264C>A
c.125C>A (p.Pro42Gln)
c.217-264C>A (n.217-264C>A)
c.230C>A (p.Pro77Gln)
17g.63837502G>ACA400601564SMARCD2n.228C>T
c.199C>T (p.Pro67Ser)
c.3C>T
c.157C>T (p.Pro53Ser)
c.340C>T (p.Pro114Ser)
c.115C>T (p.Pro39Ser)
c.196C>T (p.Pro66Ser)
n.53-265C>T
c.124C>T (p.Pro42Ser)
c.217-265C>T (n.217-265C>T)
c.229C>T (p.Pro77Ser)
 COSMIC COSMIC
17g.63837502G>CCA400601565SMARCD2n.228C>G
c.199C>G (p.Pro67Ala)
c.3C>G
c.157C>G (p.Pro53Ala)
c.340C>G (p.Pro114Ala)
c.115C>G (p.Pro39Ala)
c.196C>G (p.Pro66Ala)
n.53-265C>G
c.124C>G (p.Pro42Ala)
c.217-265C>G (n.217-265C>G)
c.229C>G (p.Pro77Ala)
 dbSNP gnomAD v3 gnomAD v4
17g.63837502G=CA2270105567SMARCD2n.228C=
c.199C= (p.Pro67=)
c.3C=
c.157C= (p.Pro53=)
c.340C= (p.Pro114=)
c.115C= (p.Pro39=)
c.196C= (p.Pro66=)
n.53-265C=
c.124C= (p.Pro42=)
c.217-265C= (n.217-265C=)
c.229C= (p.Pro77=)
17g.63837502G>TCA400601566SMARCD2n.228C>A
c.199C>A (p.Pro67Thr)
c.3C>A
c.157C>A (p.Pro53Thr)
c.340C>A (p.Pro114Thr)
c.115C>A (p.Pro39Thr)
c.196C>A (p.Pro66Thr)
n.53-265C>A
c.124C>A (p.Pro42Thr)
c.217-265C>A (n.217-265C>A)
c.229C>A (p.Pro77Thr)
17g.63837503A=CA2270105568SMARCD2n.227T=
c.198T= (p.Asp66=)
c.2T=
c.156T= (p.Asp52=)
c.339T= (p.Asp113=)
c.114T= (p.Asp38=)
c.195T= (p.Asp65=)
n.53-266T=
c.123T= (p.Asp41=)
c.217-266T= (n.217-266T=)
c.228T= (p.Asp76=)
17g.63837503A>CCA400601567SMARCD2n.227T>G
c.198T>G (p.Asp66Glu)
c.2T>G
c.156T>G (p.Asp52Glu)
c.339T>G (p.Asp113Glu)
c.114T>G (p.Asp38Glu)
c.195T>G (p.Asp65Glu)
n.53-266T>G
c.123T>G (p.Asp41Glu)
c.217-266T>G (n.217-266T>G)
c.228T>G (p.Asp76Glu)
17g.63837503A>GCA501202343SMARCD2n.227T>C
c.198T>C (p.Asp66=)
c.2T>C
c.156T>C (p.Asp52=)
c.339T>C (p.Asp113=)
c.114T>C (p.Asp38=)
c.195T>C (p.Asp65=)
n.53-266T>C
c.123T>C (p.Asp41=)
c.217-266T>C (n.217-266T>C)
c.228T>C (p.Asp76=)
 dbSNP gnomAD v4
17g.63837503A>TCA400601568SMARCD2n.227T>A
c.198T>A (p.Asp66Glu)
c.2T>A
c.156T>A (p.Asp52Glu)
c.339T>A (p.Asp113Glu)
c.114T>A (p.Asp38Glu)
c.195T>A (p.Asp65Glu)
n.53-266T>A
c.123T>A (p.Asp41Glu)
c.217-266T>A (n.217-266T>A)
c.228T>A (p.Asp76Glu)
17g.63837504T>ACA400601570SMARCD2n.226A>T
c.197A>T (p.Asp66Val)
c.1A>T
c.155A>T (p.Asp52Val)
c.338A>T (p.Asp113Val)
c.113A>T (p.Asp38Val)
c.194A>T (p.Asp65Val)
n.53-267A>T
c.122A>T (p.Asp41Val)
c.217-267A>T (n.217-267A>T)
c.227A>T (p.Asp76Val)
 dbSNP
17g.63837504T>CCA400601569SMARCD2n.226A>G
c.197A>G (p.Asp66Gly)
c.1A>G
c.155A>G (p.Asp52Gly)
c.338A>G (p.Asp113Gly)
c.113A>G (p.Asp38Gly)
c.194A>G (p.Asp65Gly)
n.53-267A>G
c.122A>G (p.Asp41Gly)
c.217-267A>G (n.217-267A>G)
c.227A>G (p.Asp76Gly)
 gnomAD v4
17g.63837504T>GCA292954745SMARCD2n.226A>C
c.197A>C (p.Asp66Ala)
c.1A>C
c.155A>C (p.Asp52Ala)
c.338A>C (p.Asp113Ala)
c.113A>C (p.Asp38Ala)
c.194A>C (p.Asp65Ala)
n.53-267A>C
c.122A>C (p.Asp41Ala)
c.217-267A>C (n.217-267A>C)
c.227A>C (p.Asp76Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63837504T=CA2270105570SMARCD2n.226A=
c.197A= (p.Asp66=)
c.1A=
c.155A= (p.Asp52=)
c.338A= (p.Asp113=)
c.113A= (p.Asp38=)
c.194A= (p.Asp65=)
n.53-267A=
c.122A= (p.Asp41=)
c.217-267A= (n.217-267A=)
c.227A= (p.Asp76=)
17g.63837504_63837505delinsTCCA2270105569SMARCD2n.225_226delinsGA
c.196_197delinsGA (p.Asp66=)
c.154_155delinsGA (p.Asp52=)
c.337_338delinsGA (p.Asp113=)
c.112_113delinsGA (p.Asp38=)
c.193_194delinsGA (p.Asp65=)
n.53-268_53-267delinsGA
c.121_122delinsGA (p.Asp41=)
c.217-268_217-267delinsGA (n.217-268_217-267delinsGA)
c.226_227delinsGA (p.Asp76=)
17g.63837505C>ACA400601572SMARCD2n.225G>T
c.196G>T (p.Asp66Tyr)
c.154G>T (p.Asp52Tyr)
c.337G>T (p.Asp113Tyr)
c.112G>T (p.Asp38Tyr)
c.193G>T (p.Asp65Tyr)
n.53-268G>T
c.121G>T (p.Asp41Tyr)
c.217-268G>T (n.217-268G>T)
c.226G>T (p.Asp76Tyr)
17g.63837505C>GCA400601571SMARCD2n.225G>C
c.196G>C (p.Asp66His)
c.154G>C (p.Asp52His)
c.337G>C (p.Asp113His)
c.112G>C (p.Asp38His)
c.193G>C (p.Asp65His)
n.53-268G>C
c.121G>C (p.Asp41His)
c.217-268G>C (n.217-268G>C)
c.226G>C (p.Asp76His)
17g.63837505C>TCA400601573SMARCD2n.225G>A
c.196G>A (p.Asp66Asn)
c.154G>A (p.Asp52Asn)
c.337G>A (p.Asp113Asn)
c.112G>A (p.Asp38Asn)
c.193G>A (p.Asp65Asn)
n.53-268G>A
c.121G>A (p.Asp41Asn)
c.217-268G>A (n.217-268G>A)
c.226G>A (p.Asp76Asn)
17g.63837506delCA8706523SMARCD2n.225del
c.196del (p.Asp66IlefsTer23)
c.154del (p.Asp52IlefsTer23)
c.337del (p.Asp113IlefsTer23)
c.112del (p.Asp38IlefsTer23)
c.193del (p.Asp65IlefsTer23)
n.53-268del
c.121del (p.Asp41IlefsTer23)
c.217-268del (n.217-268del)
c.226del (p.Asp76IlefsTer23)
 dbSNP ExAC
17g.63837506C>ACA400601574SMARCD2n.224G>T
c.195G>T (p.Met65Ile)
c.153G>T (p.Met51Ile)
c.336G>T (p.Met112Ile)
c.111G>T (p.Met37Ile)
c.192G>T (p.Met64Ile)
n.53-269G>T
c.120G>T (p.Met40Ile)
c.217-269G>T (n.217-269G>T)
c.225G>T (p.Met75Ile)
 gnomAD v4
17g.63837506C>GCA400601575SMARCD2n.224G>C
c.195G>C (p.Met65Ile)
c.153G>C (p.Met51Ile)
c.336G>C (p.Met112Ile)
c.111G>C (p.Met37Ile)
c.192G>C (p.Met64Ile)
n.53-269G>C
c.120G>C (p.Met40Ile)
c.217-269G>C (n.217-269G>C)
c.225G>C (p.Met75Ile)
17g.63837506C>TCA400601576SMARCD2n.224G>A
c.195G>A (p.Met65Ile)
c.153G>A (p.Met51Ile)
c.336G>A (p.Met112Ile)
c.111G>A (p.Met37Ile)
c.192G>A (p.Met64Ile)
n.53-269G>A
c.120G>A (p.Met40Ile)
c.217-269G>A (n.217-269G>A)
c.225G>A (p.Met75Ile)
17g.63837507A=CA2270105571SMARCD2n.223T=
c.194T= (p.Met65=)
c.152T= (p.Met51=)
c.335T= (p.Met112=)
c.110T= (p.Met37=)
c.191T= (p.Met64=)
n.53-270T=
c.119T= (p.Met40=)
c.217-270T= (n.217-270T=)
c.224T= (p.Met75=)
17g.63837507A>CCA400601577SMARCD2n.223T>G
c.194T>G (p.Met65Arg)
c.152T>G (p.Met51Arg)
c.335T>G (p.Met112Arg)
c.110T>G (p.Met37Arg)
c.191T>G (p.Met64Arg)
n.53-270T>G
c.119T>G (p.Met40Arg)
c.217-270T>G (n.217-270T>G)
c.224T>G (p.Met75Arg)
17g.63837507A>GCA292954750SMARCD2n.223T>C
c.194T>C (p.Met65Thr)
c.152T>C (p.Met51Thr)
c.335T>C (p.Met112Thr)
c.110T>C (p.Met37Thr)
c.191T>C (p.Met64Thr)
n.53-270T>C
c.119T>C (p.Met40Thr)
c.217-270T>C (n.217-270T>C)
c.224T>C (p.Met75Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63837507A>TCA400601578SMARCD2n.223T>A
c.194T>A (p.Met65Lys)
c.152T>A (p.Met51Lys)
c.335T>A (p.Met112Lys)
c.110T>A (p.Met37Lys)
c.191T>A (p.Met64Lys)
n.53-270T>A
c.119T>A (p.Met40Lys)
c.217-270T>A (n.217-270T>A)
c.224T>A (p.Met75Lys)
 dbSNP gnomAD v2
17g.63837508T>ACA400601579SMARCD2n.222A>T
c.193A>T (p.Met65Leu)
c.151A>T (p.Met51Leu)
c.334A>T (p.Met112Leu)
c.109A>T (p.Met37Leu)
c.190A>T (p.Met64Leu)
n.53-271A>T
c.118A>T (p.Met40Leu)
c.217-271A>T (n.217-271A>T)
c.223A>T (p.Met75Leu)
17g.63837508T>CCA400601580SMARCD2n.222A>G
c.193A>G (p.Met65Val)
c.151A>G (p.Met51Val)
c.334A>G (p.Met112Val)
c.109A>G (p.Met37Val)
c.190A>G (p.Met64Val)
n.53-271A>G
c.118A>G (p.Met40Val)
c.217-271A>G (n.217-271A>G)
c.223A>G (p.Met75Val)
 ClinVar dbSNP
17g.63837508T>GCA400601581SMARCD2n.222A>C
c.193A>C (p.Met65Leu)
c.151A>C (p.Met51Leu)
c.334A>C (p.Met112Leu)
c.109A>C (p.Met37Leu)
c.190A>C (p.Met64Leu)
n.53-271A>C
c.118A>C (p.Met40Leu)
c.217-271A>C (n.217-271A>C)
c.223A>C (p.Met75Leu)
 gnomAD v4
17g.63837509C>ACA400601582SMARCD2n.221G>T
c.192G>T (p.Met64Ile)
c.150G>T (p.Met50Ile)
c.333G>T (p.Met111Ile)
c.108G>T (p.Met36Ile)
c.189G>T (p.Met63Ile)
n.53-272G>T
c.117G>T (p.Met39Ile)
c.217-272G>T (n.217-272G>T)
c.222G>T (p.Met74Ile)
17g.63837509C>GCA400601583SMARCD2n.221G>C
c.192G>C (p.Met64Ile)
c.150G>C (p.Met50Ile)
c.333G>C (p.Met111Ile)
c.108G>C (p.Met36Ile)
c.189G>C (p.Met63Ile)
n.53-272G>C
c.117G>C (p.Met39Ile)
c.217-272G>C (n.217-272G>C)
c.222G>C (p.Met74Ile)
17g.63837509C>TCA400601584SMARCD2n.221G>A
c.192G>A (p.Met64Ile)
c.150G>A (p.Met50Ile)
c.333G>A (p.Met111Ile)
c.108G>A (p.Met36Ile)
c.189G>A (p.Met63Ile)
n.53-272G>A
c.117G>A (p.Met39Ile)
c.217-272G>A (n.217-272G>A)
c.222G>A (p.Met74Ile)
17g.63837509_63837512delinsCATGCA2270105572SMARCD2n.218_221delinsCATG
c.189_192delinsCATG (p.Thr63=)
c.147_150delinsCATG (p.Thr49=)
c.330_333delinsCATG (p.Thr110=)
c.105_108delinsCATG (p.Thr35=)
c.186_189delinsCATG (p.Thr62=)
n.53-275_53-272delinsCATG
c.114_117delinsCATG (p.Thr38=)
c.217-275_217-272delinsCATG (n.217-275_217-272delinsCATG)
c.219_222delinsCATG (p.Thr73=)
17g.63837510A=CA2270105573SMARCD2n.220T=
c.191T= (p.Met64=)
c.149T= (p.Met50=)
c.332T= (p.Met111=)
c.107T= (p.Met36=)
c.188T= (p.Met63=)
n.53-273T=
c.116T= (p.Met39=)
c.217-273T= (n.217-273T=)
c.221T= (p.Met74=)
17g.63837510A>CCA400601585SMARCD2n.220T>G
c.191T>G (p.Met64Arg)
c.149T>G (p.Met50Arg)
c.332T>G (p.Met111Arg)
c.107T>G (p.Met36Arg)
c.188T>G (p.Met63Arg)
n.53-273T>G
c.116T>G (p.Met39Arg)
c.217-273T>G (n.217-273T>G)
c.221T>G (p.Met74Arg)
 dbSNP gnomAD v4
17g.63837510A>GCA400601587SMARCD2n.220T>C
c.191T>C (p.Met64Thr)
c.149T>C (p.Met50Thr)
c.332T>C (p.Met111Thr)
c.107T>C (p.Met36Thr)
c.188T>C (p.Met63Thr)
n.53-273T>C
c.116T>C (p.Met39Thr)
c.217-273T>C (n.217-273T>C)
c.221T>C (p.Met74Thr)
 gnomAD v4
17g.63837510A>TCA400601586SMARCD2n.220T>A
c.191T>A (p.Met64Lys)
c.149T>A (p.Met50Lys)
c.332T>A (p.Met111Lys)
c.107T>A (p.Met36Lys)
c.188T>A (p.Met63Lys)
n.53-273T>A
c.116T>A (p.Met39Lys)
c.217-273T>A (n.217-273T>A)
c.221T>A (p.Met74Lys)
17g.63837510_63837512delCA8706524SMARCD2n.218_220del
c.189_191del (p.Met64del)
c.147_149del (p.Met50del)
c.330_332del (p.Met111del)
c.105_107del (p.Met36del)
c.186_188del (p.Met63del)
n.53-275_53-273del
c.114_116del (p.Met39del)
c.217-275_217-273del (n.217-275_217-273del)
c.219_221del (p.Met74del)
 dbSNP ExAC gnomAD v2
17g.63837511T>ACA400601588SMARCD2n.219A>T
c.190A>T (p.Met64Leu)
c.148A>T (p.Met50Leu)
c.331A>T (p.Met111Leu)
c.106A>T (p.Met36Leu)
c.187A>T (p.Met63Leu)
n.53-274A>T
c.115A>T (p.Met39Leu)
c.217-274A>T (n.217-274A>T)
c.220A>T (p.Met74Leu)
17g.63837511T>CCA8706525SMARCD2n.219A>G
c.190A>G (p.Met64Val)
c.148A>G (p.Met50Val)
c.331A>G (p.Met111Val)
c.106A>G (p.Met36Val)
c.187A>G (p.Met63Val)
n.53-274A>G
c.115A>G (p.Met39Val)
c.217-274A>G (n.217-274A>G)
c.220A>G (p.Met74Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63837511T>GCA400601589SMARCD2n.219A>C
c.190A>C (p.Met64Leu)
c.148A>C (p.Met50Leu)
c.331A>C (p.Met111Leu)
c.106A>C (p.Met36Leu)
c.187A>C (p.Met63Leu)
n.53-274A>C
c.115A>C (p.Met39Leu)
c.217-274A>C (n.217-274A>C)
c.220A>C (p.Met74Leu)
17g.63837511T=CA2270105574SMARCD2n.219A=
c.190A= (p.Met64=)
c.148A= (p.Met50=)
c.331A= (p.Met111=)
c.106A= (p.Met36=)
c.187A= (p.Met63=)
n.53-274A=
c.115A= (p.Met39=)
c.217-274A= (n.217-274A=)
c.220A= (p.Met74=)
17g.63837512G>ACA501202348SMARCD2n.218C>T
c.189C>T (p.Thr63=)
c.147C>T (p.Thr49=)
c.330C>T (p.Thr110=)
c.105C>T (p.Thr35=)
c.186C>T (p.Thr62=)
n.53-275C>T
c.114C>T (p.Thr38=)
c.217-275C>T (n.217-275C>T)
c.219C>T (p.Thr73=)
 COSMIC COSMIC
17g.63837512G>CCA501202349SMARCD2n.218C>G
c.189C>G (p.Thr63=)
c.147C>G (p.Thr49=)
c.330C>G (p.Thr110=)
c.105C>G (p.Thr35=)
c.186C>G (p.Thr62=)
n.53-275C>G
c.114C>G (p.Thr38=)
c.217-275C>G (n.217-275C>G)
c.219C>G (p.Thr73=)
17g.63837512G>TCA501202350SMARCD2n.218C>A
c.189C>A (p.Thr63=)
c.147C>A (p.Thr49=)
c.330C>A (p.Thr110=)
c.105C>A (p.Thr35=)
c.186C>A (p.Thr62=)
n.53-275C>A
c.114C>A (p.Thr38=)
c.217-275C>A (n.217-275C>A)
c.219C>A (p.Thr73=)
17g.63837513G>ACA400601590SMARCD2n.217C>T
c.188C>T (p.Thr63Ile)
c.146C>T (p.Thr49Ile)
c.329C>T (p.Thr110Ile)
c.104C>T (p.Thr35Ile)
c.185C>T (p.Thr62Ile)
n.53-276C>T
c.113C>T (p.Thr38Ile)
c.217-276C>T (n.217-276C>T)
c.218C>T (p.Thr73Ile)
 gnomAD v4
17g.63837513G>CCA400601591SMARCD2n.217C>G
c.188C>G (p.Thr63Ser)
c.146C>G (p.Thr49Ser)
c.329C>G (p.Thr110Ser)
c.104C>G (p.Thr35Ser)
c.185C>G (p.Thr62Ser)
n.53-276C>G
c.113C>G (p.Thr38Ser)
c.217-276C>G (n.217-276C>G)
c.218C>G (p.Thr73Ser)
17g.63837513G>TCA400601592SMARCD2n.217C>A
c.188C>A (p.Thr63Asn)
c.146C>A (p.Thr49Asn)
c.329C>A (p.Thr110Asn)
c.104C>A (p.Thr35Asn)
c.185C>A (p.Thr62Asn)
n.53-276C>A
c.113C>A (p.Thr38Asn)
c.217-276C>A (n.217-276C>A)
c.218C>A (p.Thr73Asn)
17g.63837514T>ACA400601593SMARCD2n.216A>T
c.187A>T (p.Thr63Ser)
c.145A>T (p.Thr49Ser)
c.328A>T (p.Thr110Ser)
c.103A>T (p.Thr35Ser)
c.184A>T (p.Thr62Ser)
n.53-277A>T
c.112A>T (p.Thr38Ser)
c.217-277A>T (n.217-277A>T)
c.217A>T (p.Thr73Ser)
17g.63837514T>CCA400601594SMARCD2n.216A>G
c.187A>G (p.Thr63Ala)
c.145A>G (p.Thr49Ala)
c.328A>G (p.Thr110Ala)
c.103A>G (p.Thr35Ala)
c.184A>G (p.Thr62Ala)
n.53-277A>G
c.112A>G (p.Thr38Ala)
c.217-277A>G (n.217-277A>G)
c.217A>G (p.Thr73Ala)
17g.63837514T>GCA400601595SMARCD2n.216A>C
c.187A>C (p.Thr63Pro)
c.145A>C (p.Thr49Pro)
c.328A>C (p.Thr110Pro)
c.103A>C (p.Thr35Pro)
c.184A>C (p.Thr62Pro)
n.53-277A>C
c.112A>C (p.Thr38Pro)
c.217-277A>C (n.217-277A>C)
c.217A>C (p.Thr73Pro)
17g.63837515G>ACA501202351SMARCD2n.215C>T
c.186C>T (p.Pro62=)
c.144C>T (p.Pro48=)
c.327C>T (p.Pro109=)
c.102C>T (p.Pro34=)
c.183C>T (p.Pro61=)
n.53-278C>T
c.111C>T (p.Pro37=)
c.217-278C>T (n.217-278C>T)
c.216C>T (p.Pro72=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.63837515G>CCA501202353SMARCD2n.215C>G
c.186C>G (p.Pro62=)
c.144C>G (p.Pro48=)
c.327C>G (p.Pro109=)
c.102C>G (p.Pro34=)
c.183C>G (p.Pro61=)
n.53-278C>G
c.111C>G (p.Pro37=)
c.217-278C>G (n.217-278C>G)
c.216C>G (p.Pro72=)
17g.63837515G=CA2270105575SMARCD2n.215C=
c.186C= (p.Pro62=)
c.144C= (p.Pro48=)
c.327C= (p.Pro109=)
c.102C= (p.Pro34=)
c.183C= (p.Pro61=)
n.53-278C=
c.111C= (p.Pro37=)
c.217-278C= (n.217-278C=)
c.216C= (p.Pro72=)
17g.63837515G>TCA501202352SMARCD2n.215C>A
c.186C>A (p.Pro62=)
c.144C>A (p.Pro48=)
c.327C>A (p.Pro109=)
c.102C>A (p.Pro34=)
c.183C>A (p.Pro61=)
n.53-278C>A
c.111C>A (p.Pro37=)
c.217-278C>A (n.217-278C>A)
c.216C>A (p.Pro72=)
17g.63837516G>ACA400601597SMARCD2n.214C>T
c.185C>T (p.Pro62Leu)
c.143C>T (p.Pro48Leu)
c.326C>T (p.Pro109Leu)
c.101C>T (p.Pro34Leu)
c.182C>T (p.Pro61Leu)
n.53-279C>T
c.110C>T (p.Pro37Leu)
c.217-279C>T (n.217-279C>T)
c.215C>T (p.Pro72Leu)
17g.63837516G>CCA400601598SMARCD2n.214C>G
c.185C>G (p.Pro62Arg)
c.143C>G (p.Pro48Arg)
c.326C>G (p.Pro109Arg)
c.101C>G (p.Pro34Arg)
c.182C>G (p.Pro61Arg)
n.53-279C>G
c.110C>G (p.Pro37Arg)
c.217-279C>G (n.217-279C>G)
c.215C>G (p.Pro72Arg)
17g.63837516G>TCA400601596SMARCD2n.214C>A
c.185C>A (p.Pro62His)
c.143C>A (p.Pro48His)
c.326C>A (p.Pro109His)
c.101C>A (p.Pro34His)
c.182C>A (p.Pro61His)
n.53-279C>A
c.110C>A (p.Pro37His)
c.217-279C>A (n.217-279C>A)
c.215C>A (p.Pro72His)
17g.63837517G>ACA400601599SMARCD2n.213C>T
c.184C>T (p.Pro62Ser)
c.142C>T (p.Pro48Ser)
c.325C>T (p.Pro109Ser)
c.100C>T (p.Pro34Ser)
c.181C>T (p.Pro61Ser)
n.53-280C>T
c.109C>T (p.Pro37Ser)
c.217-280C>T (n.217-280C>T)
c.214C>T (p.Pro72Ser)
 dbSNP gnomAD v4
17g.63837517G>CCA400601600SMARCD2n.213C>G
c.184C>G (p.Pro62Ala)
c.142C>G (p.Pro48Ala)
c.325C>G (p.Pro109Ala)
c.100C>G (p.Pro34Ala)
c.181C>G (p.Pro61Ala)
n.53-280C>G
c.109C>G (p.Pro37Ala)
c.217-280C>G (n.217-280C>G)
c.214C>G (p.Pro72Ala)
17g.63837517G=CA2270105576SMARCD2n.213C=
c.184C= (p.Pro62=)
c.142C= (p.Pro48=)
c.325C= (p.Pro109=)
c.100C= (p.Pro34=)
c.181C= (p.Pro61=)
n.53-280C=
c.109C= (p.Pro37=)
c.217-280C= (n.217-280C=)
c.214C= (p.Pro72=)
17g.63837517G>TCA400601601SMARCD2n.213C>A
c.184C>A (p.Pro62Thr)
c.142C>A (p.Pro48Thr)
c.325C>A (p.Pro109Thr)
c.100C>A (p.Pro34Thr)
c.181C>A (p.Pro61Thr)
n.53-280C>A
c.109C>A (p.Pro37Thr)
c.217-280C>A (n.217-280C>A)
c.214C>A (p.Pro72Thr)
17g.63837518T>ACA501202354SMARCD2n.212A>T
c.183A>T (p.Pro61=)
c.141A>T (p.Pro47=)
c.324A>T (p.Pro108=)
c.99A>T (p.Pro33=)
c.180A>T (p.Pro60=)
n.53-281A>T
c.108A>T (p.Pro36=)
c.217-281A>T (n.217-281A>T)
c.213A>T (p.Pro71=)
17g.63837518T>CCA501202355SMARCD2n.212A>G
c.183A>G (p.Pro61=)
c.141A>G (p.Pro47=)
c.324A>G (p.Pro108=)
c.99A>G (p.Pro33=)
c.180A>G (p.Pro60=)
n.53-281A>G
c.108A>G (p.Pro36=)
c.217-281A>G (n.217-281A>G)
c.213A>G (p.Pro71=)
17g.63837518T>GCA501202356SMARCD2n.212A>C
c.183A>C (p.Pro61=)
c.141A>C (p.Pro47=)
c.324A>C (p.Pro108=)
c.99A>C (p.Pro33=)
c.180A>C (p.Pro60=)
n.53-281A>C
c.108A>C (p.Pro36=)
c.217-281A>C (n.217-281A>C)
c.213A>C (p.Pro71=)
17g.63837519G>ACA400601602SMARCD2n.211C>T
c.182C>T (p.Pro61Leu)
c.140C>T (p.Pro47Leu)
c.323C>T (p.Pro108Leu)
c.98C>T (p.Pro33Leu)
c.179C>T (p.Pro60Leu)
n.53-282C>T
c.107C>T (p.Pro36Leu)
c.217-282C>T (n.217-282C>T)
c.212C>T (p.Pro71Leu)
 gnomAD v4
17g.63837519G>CCA400601603SMARCD2n.211C>G
c.182C>G (p.Pro61Arg)
c.140C>G (p.Pro47Arg)
c.323C>G (p.Pro108Arg)
c.98C>G (p.Pro33Arg)
c.179C>G (p.Pro60Arg)
n.53-282C>G
c.107C>G (p.Pro36Arg)
c.217-282C>G (n.217-282C>G)
c.212C>G (p.Pro71Arg)
17g.63837519G>TCA400601604SMARCD2n.211C>A
c.182C>A (p.Pro61Gln)
c.140C>A (p.Pro47Gln)
c.323C>A (p.Pro108Gln)
c.98C>A (p.Pro33Gln)
c.179C>A (p.Pro60Gln)
n.53-282C>A
c.107C>A (p.Pro36Gln)
c.217-282C>A (n.217-282C>A)
c.212C>A (p.Pro71Gln)
17g.63837520G>ACA8706526SMARCD2n.210C>T
c.181C>T (p.Pro61Ser)
c.139C>T (p.Pro47Ser)
c.322C>T (p.Pro108Ser)
c.97C>T (p.Pro33Ser)
c.178C>T (p.Pro60Ser)
n.53-283C>T
c.106C>T (p.Pro36Ser)
c.217-283C>T (n.217-283C>T)
c.211C>T (p.Pro71Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837520G>CCA400601605SMARCD2n.210C>G
c.181C>G (p.Pro61Ala)
c.139C>G (p.Pro47Ala)
c.322C>G (p.Pro108Ala)
c.97C>G (p.Pro33Ala)
c.178C>G (p.Pro60Ala)
n.53-283C>G
c.106C>G (p.Pro36Ala)
c.217-283C>G (n.217-283C>G)
c.211C>G (p.Pro71Ala)
17g.63837520G=CA2270105577SMARCD2n.210C=
c.181C= (p.Pro61=)
c.139C= (p.Pro47=)
c.322C= (p.Pro108=)
c.97C= (p.Pro33=)
c.178C= (p.Pro60=)
n.53-283C=
c.106C= (p.Pro36=)
c.217-283C= (n.217-283C=)
c.211C= (p.Pro71=)
17g.63837520G>TCA400601606SMARCD2n.210C>A
c.181C>A (p.Pro61Thr)
c.139C>A (p.Pro47Thr)
c.322C>A (p.Pro108Thr)
c.97C>A (p.Pro33Thr)
c.178C>A (p.Pro60Thr)
n.53-283C>A
c.106C>A (p.Pro36Thr)
c.217-283C>A (n.217-283C>A)
c.211C>A (p.Pro71Thr)
17g.63837521C>ACA400601607SMARCD2n.209G>T
c.180G>T (p.Met60Ile)
c.138G>T (p.Met46Ile)
c.321G>T (p.Met107Ile)
c.96G>T (p.Met32Ile)
c.177G>T (p.Met59Ile)
n.53-284G>T
c.105G>T (p.Met35Ile)
c.217-284G>T (n.217-284G>T)
c.210G>T (p.Met70Ile)
17g.63837521C>GCA400601608SMARCD2n.209G>C
c.180G>C (p.Met60Ile)
c.138G>C (p.Met46Ile)
c.321G>C (p.Met107Ile)
c.96G>C (p.Met32Ile)
c.177G>C (p.Met59Ile)
n.53-284G>C
c.105G>C (p.Met35Ile)
c.217-284G>C (n.217-284G>C)
c.210G>C (p.Met70Ile)
17g.63837521C>TCA400601609SMARCD2n.209G>A
c.180G>A (p.Met60Ile)
c.138G>A (p.Met46Ile)
c.321G>A (p.Met107Ile)
c.96G>A (p.Met32Ile)
c.177G>A (p.Met59Ile)
n.53-284G>A
c.105G>A (p.Met35Ile)
c.217-284G>A (n.217-284G>A)
c.210G>A (p.Met70Ile)
17g.63837522A=CA2270105578SMARCD2n.208T=
c.179T= (p.Met60=)
c.137T= (p.Met46=)
c.320T= (p.Met107=)
c.95T= (p.Met32=)
c.176T= (p.Met59=)
n.53-285T=
c.104T= (p.Met35=)
c.217-285T= (n.217-285T=)
c.209T= (p.Met70=)
17g.63837522A>CCA400601611SMARCD2n.208T>G
c.179T>G (p.Met60Arg)
c.137T>G (p.Met46Arg)
c.320T>G (p.Met107Arg)
c.95T>G (p.Met32Arg)
c.176T>G (p.Met59Arg)
n.53-285T>G
c.104T>G (p.Met35Arg)
c.217-285T>G (n.217-285T>G)
c.209T>G (p.Met70Arg)
 dbSNP
17g.63837522A>GCA400601612SMARCD2n.208T>C
c.179T>C (p.Met60Thr)
c.137T>C (p.Met46Thr)
c.320T>C (p.Met107Thr)
c.95T>C (p.Met32Thr)
c.176T>C (p.Met59Thr)
n.53-285T>C
c.104T>C (p.Met35Thr)
c.217-285T>C (n.217-285T>C)
c.209T>C (p.Met70Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63837522A>TCA400601610SMARCD2n.208T>A
c.179T>A (p.Met60Lys)
c.137T>A (p.Met46Lys)
c.320T>A (p.Met107Lys)
c.95T>A (p.Met32Lys)
c.176T>A (p.Met59Lys)
n.53-285T>A
c.104T>A (p.Met35Lys)
c.217-285T>A (n.217-285T>A)
c.209T>A (p.Met70Lys)
17g.63837523T>ACA400601613SMARCD2n.207A>T
c.178A>T (p.Met60Leu)
c.136A>T (p.Met46Leu)
c.319A>T (p.Met107Leu)
c.94A>T (p.Met32Leu)
c.175A>T (p.Met59Leu)
n.53-286A>T
c.103A>T (p.Met35Leu)
c.217-286A>T (n.217-286A>T)
c.208A>T (p.Met70Leu)
17g.63837523T>CCA400601614SMARCD2n.207A>G
c.178A>G (p.Met60Val)
c.136A>G (p.Met46Val)
c.319A>G (p.Met107Val)
c.94A>G (p.Met32Val)
c.175A>G (p.Met59Val)
n.53-286A>G
c.103A>G (p.Met35Val)
c.217-286A>G (n.217-286A>G)
c.208A>G (p.Met70Val)
17g.63837523T>GCA400601615SMARCD2n.207A>C
c.178A>C (p.Met60Leu)
c.136A>C (p.Met46Leu)
c.319A>C (p.Met107Leu)
c.94A>C (p.Met32Leu)
c.175A>C (p.Met59Leu)
n.53-286A>C
c.103A>C (p.Met35Leu)
c.217-286A>C (n.217-286A>C)
c.208A>C (p.Met70Leu)
 gnomAD v4
17g.63837524G>ACA501202357SMARCD2n.206C>T
c.177C>T (p.Gly59=)
c.135C>T (p.Gly45=)
c.318C>T (p.Gly106=)
c.93C>T (p.Gly31=)
c.174C>T (p.Gly58=)
n.53-287C>T
c.102C>T (p.Gly34=)
c.217-287C>T (n.217-287C>T)
c.207C>T (p.Gly69=)
17g.63837524G>CCA501202358SMARCD2n.206C>G
c.177C>G (p.Gly59=)
c.135C>G (p.Gly45=)
c.318C>G (p.Gly106=)
c.93C>G (p.Gly31=)
c.174C>G (p.Gly58=)
n.53-287C>G
c.102C>G (p.Gly34=)
c.217-287C>G (n.217-287C>G)
c.207C>G (p.Gly69=)
17g.63837524G>TCA501202359SMARCD2n.206C>A
c.177C>A (p.Gly59=)
c.135C>A (p.Gly45=)
c.318C>A (p.Gly106=)
c.93C>A (p.Gly31=)
c.174C>A (p.Gly58=)
n.53-287C>A
c.102C>A (p.Gly34=)
c.217-287C>A (n.217-287C>A)
c.207C>A (p.Gly69=)
17g.63837525C>ACA400601616SMARCD2n.205G>T
c.176G>T (p.Gly59Val)
c.134G>T (p.Gly45Val)
c.317G>T (p.Gly106Val)
c.92G>T (p.Gly31Val)
c.173G>T (p.Gly58Val)
n.53-288G>T
c.101G>T (p.Gly34Val)
c.217-288G>T (n.217-288G>T)
c.206G>T (p.Gly69Val)
17g.63837525C>GCA400601617SMARCD2n.205G>C
c.176G>C (p.Gly59Ala)
c.134G>C (p.Gly45Ala)
c.317G>C (p.Gly106Ala)
c.92G>C (p.Gly31Ala)
c.173G>C (p.Gly58Ala)
n.53-288G>C
c.101G>C (p.Gly34Ala)
c.217-288G>C (n.217-288G>C)
c.206G>C (p.Gly69Ala)
17g.63837525C>TCA400601618SMARCD2n.205G>A
c.176G>A (p.Gly59Asp)
c.134G>A (p.Gly45Asp)
c.317G>A (p.Gly106Asp)
c.92G>A (p.Gly31Asp)
c.173G>A (p.Gly58Asp)
n.53-288G>A
c.101G>A (p.Gly34Asp)
c.217-288G>A (n.217-288G>A)
c.206G>A (p.Gly69Asp)
17g.63837526delCA2639301722SMARCD2n.205del
c.176del (p.Gly59AlafsTer6)
c.134del (p.Gly45AlafsTer6)
c.317del (p.Gly106AlafsTer6)
c.92del (p.Gly31AlafsTer6)
c.173del (p.Gly58AlafsTer6)
n.53-288del
c.101del (p.Gly34AlafsTer6)
c.217-288del (n.217-288del)
c.206del (p.Gly69AlafsTer6)
 gnomAD v4
17g.63837526C>ACA400601620SMARCD2n.204G>T
c.175G>T (p.Gly59Cys)
c.133G>T (p.Gly45Cys)
c.316G>T (p.Gly106Cys)
c.91G>T (p.Gly31Cys)
c.172G>T (p.Gly58Cys)
n.53-289G>T
c.100G>T (p.Gly34Cys)
c.217-289G>T (n.217-289G>T)
c.205G>T (p.Gly69Cys)
17g.63837526C=CA2270105579SMARCD2n.204G=
c.175G= (p.Gly59=)
c.133G= (p.Gly45=)
c.316G= (p.Gly106=)
c.91G= (p.Gly31=)
c.172G= (p.Gly58=)
n.53-289G=
c.100G= (p.Gly34=)
c.217-289G= (n.217-289G=)
c.205G= (p.Gly69=)
17g.63837526C>GCA400601619SMARCD2n.204G>C
c.175G>C (p.Gly59Arg)
c.133G>C (p.Gly45Arg)
c.316G>C (p.Gly106Arg)
c.91G>C (p.Gly31Arg)
c.172G>C (p.Gly58Arg)
n.53-289G>C
c.100G>C (p.Gly34Arg)
c.217-289G>C (n.217-289G>C)
c.205G>C (p.Gly69Arg)
 gnomAD v4
17g.63837526C>TCA8706527SMARCD2n.204G>A
c.175G>A (p.Gly59Ser)
c.133G>A (p.Gly45Ser)
c.316G>A (p.Gly106Ser)
c.91G>A (p.Gly31Ser)
c.172G>A (p.Gly58Ser)
n.53-289G>A
c.100G>A (p.Gly34Ser)
c.217-289G>A (n.217-289G>A)
c.205G>A (p.Gly69Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63837527A>CCA501202363SMARCD2n.203T>G
c.174T>G (p.Pro58=)
c.132T>G (p.Pro44=)
c.315T>G (p.Pro105=)
c.90T>G (p.Pro30=)
c.171T>G (p.Pro57=)
n.53-290T>G
c.99T>G (p.Pro33=)
c.217-290T>G (n.217-290T>G)
c.204T>G (p.Pro68=)
17g.63837527A>GCA501202361SMARCD2n.203T>C
c.174T>C (p.Pro58=)
c.132T>C (p.Pro44=)
c.315T>C (p.Pro105=)
c.90T>C (p.Pro30=)
c.171T>C (p.Pro57=)
n.53-290T>C
c.99T>C (p.Pro33=)
c.217-290T>C (n.217-290T>C)
c.204T>C (p.Pro68=)
17g.63837527A>TCA501202362SMARCD2n.203T>A
c.174T>A (p.Pro58=)
c.132T>A (p.Pro44=)
c.315T>A (p.Pro105=)
c.90T>A (p.Pro30=)
c.171T>A (p.Pro57=)
n.53-290T>A
c.99T>A (p.Pro33=)
c.217-290T>A (n.217-290T>A)
c.204T>A (p.Pro68=)
17g.63837527_63837528delinsAGCA2270105580SMARCD2n.202_203delinsCT
c.173_174delinsCT (p.Pro58=)
c.131_132delinsCT (p.Pro44=)
c.314_315delinsCT (p.Pro105=)
c.89_90delinsCT (p.Pro30=)
c.170_171delinsCT (p.Pro57=)
n.53-291_53-290delinsCT
c.98_99delinsCT (p.Pro33=)
c.217-291_217-290delinsCT (n.217-291_217-290delinsCT)
c.203_204delinsCT (p.Pro68=)
17g.63837528G>ACA8706529SMARCD2n.202C>T
c.173C>T (p.Pro58Leu)
c.131C>T (p.Pro44Leu)
c.314C>T (p.Pro105Leu)
c.89C>T (p.Pro30Leu)
c.170C>T (p.Pro57Leu)
n.53-291C>T
c.98C>T (p.Pro33Leu)
c.217-291C>T (n.217-291C>T)
c.203C>T (p.Pro68Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837528G>CCA400601621SMARCD2n.202C>G
c.173C>G (p.Pro58Arg)
c.131C>G (p.Pro44Arg)
c.314C>G (p.Pro105Arg)
c.89C>G (p.Pro30Arg)
c.170C>G (p.Pro57Arg)
n.53-291C>G
c.98C>G (p.Pro33Arg)
c.217-291C>G (n.217-291C>G)
c.203C>G (p.Pro68Arg)
17g.63837528G=CA2270105581SMARCD2n.202C=
c.173C= (p.Pro58=)
c.131C= (p.Pro44=)
c.314C= (p.Pro105=)
c.89C= (p.Pro30=)
c.170C= (p.Pro57=)
n.53-291C=
c.98C= (p.Pro33=)
c.217-291C= (n.217-291C=)
c.203C= (p.Pro68=)
17g.63837528G>TCA8706528SMARCD2n.202C>A
c.173C>A (p.Pro58His)
c.131C>A (p.Pro44His)
c.314C>A (p.Pro105His)
c.89C>A (p.Pro30His)
c.170C>A (p.Pro57His)
n.53-291C>A
c.98C>A (p.Pro33His)
c.217-291C>A (n.217-291C>A)
c.203C>A (p.Pro68His)
 dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC
17g.63837529delCA773998485SMARCD2n.202del
c.173del (p.Pro58LeufsTer7)
c.131del (p.Pro44LeufsTer7)
c.314del (p.Pro105LeufsTer7)
c.89del (p.Pro30LeufsTer7)
c.170del (p.Pro57LeufsTer7)
n.53-291del
c.98del (p.Pro33LeufsTer7)
c.217-291del (n.217-291del)
c.203del (p.Pro68LeufsTer7)
 dbSNP gnomAD v3 gnomAD v4
17g.63837529G>ACA400601622SMARCD2n.201C>T
c.172C>T (p.Pro58Ser)
c.130C>T (p.Pro44Ser)
c.313C>T (p.Pro105Ser)
c.88C>T (p.Pro30Ser)
c.169C>T (p.Pro57Ser)
n.53-292C>T
c.97C>T (p.Pro33Ser)
c.217-292C>T (n.217-292C>T)
c.202C>T (p.Pro68Ser)
17g.63837529G>CCA400601623SMARCD2n.201C>G
c.172C>G (p.Pro58Ala)
c.130C>G (p.Pro44Ala)
c.313C>G (p.Pro105Ala)
c.88C>G (p.Pro30Ala)
c.169C>G (p.Pro57Ala)
n.53-292C>G
c.97C>G (p.Pro33Ala)
c.217-292C>G (n.217-292C>G)
c.202C>G (p.Pro68Ala)
17g.63837529G>TCA400601624SMARCD2n.201C>A
c.172C>A (p.Pro58Thr)
c.130C>A (p.Pro44Thr)
c.313C>A (p.Pro105Thr)
c.88C>A (p.Pro30Thr)
c.169C>A (p.Pro57Thr)
n.53-292C>A
c.97C>A (p.Pro33Thr)
c.217-292C>A (n.217-292C>A)
c.202C>A (p.Pro68Thr)
17g.63837530T>ACA501202365SMARCD2n.200A>T
c.171A>T (p.Arg57=)
c.129A>T (p.Arg43=)
c.312A>T (p.Arg104=)
c.87A>T (p.Arg29=)
c.168A>T (p.Arg56=)
n.53-293A>T
c.96A>T (p.Arg32=)
c.217-293A>T (n.217-293A>T)
c.201A>T (p.Arg67=)
17g.63837530T>CCA501202366SMARCD2n.200A>G
c.171A>G (p.Arg57=)
c.129A>G (p.Arg43=)
c.312A>G (p.Arg104=)
c.87A>G (p.Arg29=)
c.168A>G (p.Arg56=)
n.53-293A>G
c.96A>G (p.Arg32=)
c.217-293A>G (n.217-293A>G)
c.201A>G (p.Arg67=)
17g.63837530T>GCA501202367SMARCD2n.200A>C
c.171A>C (p.Arg57=)
c.129A>C (p.Arg43=)
c.312A>C (p.Arg104=)
c.87A>C (p.Arg29=)
c.168A>C (p.Arg56=)
n.53-293A>C
c.96A>C (p.Arg32=)
c.217-293A>C (n.217-293A>C)
c.201A>C (p.Arg67=)
17g.63837531C>ACA400601625SMARCD2n.199G>T
c.170G>T (p.Arg57Leu)
c.128G>T (p.Arg43Leu)
c.311G>T (p.Arg104Leu)
c.86G>T (p.Arg29Leu)
c.167G>T (p.Arg56Leu)
n.53-294G>T
c.95G>T (p.Arg32Leu)
c.217-294G>T (n.217-294G>T)
c.200G>T (p.Arg67Leu)
 COSMIC
17g.63837531C=CA2270105582SMARCD2n.199G=
c.170G= (p.Arg57=)
c.128G= (p.Arg43=)
c.311G= (p.Arg104=)
c.86G= (p.Arg29=)
c.167G= (p.Arg56=)
n.53-294G=
c.95G= (p.Arg32=)
c.217-294G= (n.217-294G=)
c.200G= (p.Arg67=)
17g.63837531C>GCA8706531SMARCD2n.199G>C
c.170G>C (p.Arg57Pro)
c.128G>C (p.Arg43Pro)
c.311G>C (p.Arg104Pro)
c.86G>C (p.Arg29Pro)
c.167G>C (p.Arg56Pro)
n.53-294G>C
c.95G>C (p.Arg32Pro)
c.217-294G>C (n.217-294G>C)
c.200G>C (p.Arg67Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63837531C>TCA8706530SMARCD2n.199G>A
c.170G>A (p.Arg57Gln)
c.128G>A (p.Arg43Gln)
c.311G>A (p.Arg104Gln)
c.86G>A (p.Arg29Gln)
c.167G>A (p.Arg56Gln)
n.53-294G>A
c.95G>A (p.Arg32Gln)
c.217-294G>A (n.217-294G>A)
c.200G>A (p.Arg67Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.63837532G>ACA400601626SMARCD2n.198C>T
c.169C>T (p.Arg57Ter)
c.127C>T (p.Arg43Ter)
c.310C>T (p.Arg104Ter)
c.85C>T (p.Arg29Ter)
c.166C>T (p.Arg56Ter)
n.53-295C>T
c.94C>T (p.Arg32Ter)
c.217-295C>T (n.217-295C>T)
c.199C>T (p.Arg67Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
17g.63837532G>CCA400601627SMARCD2n.198C>G
c.169C>G (p.Arg57Gly)
c.127C>G (p.Arg43Gly)
c.310C>G (p.Arg104Gly)
c.85C>G (p.Arg29Gly)
c.166C>G (p.Arg56Gly)
n.53-295C>G
c.94C>G (p.Arg32Gly)
c.217-295C>G (n.217-295C>G)
c.199C>G (p.Arg67Gly)
17g.63837532G=CA2270105583SMARCD2n.198C=
c.169C= (p.Arg57=)
c.127C= (p.Arg43=)
c.310C= (p.Arg104=)
c.85C= (p.Arg29=)
c.166C= (p.Arg56=)
n.53-295C=
c.94C= (p.Arg32=)
c.217-295C= (n.217-295C=)
c.199C= (p.Arg67=)
17g.63837532G>TCA501202368SMARCD2n.198C>A
c.169C>A (p.Arg57=)
c.127C>A (p.Arg43=)
c.310C>A (p.Arg104=)
c.85C>A (p.Arg29=)
c.166C>A (p.Arg56=)
n.53-295C>A
c.94C>A (p.Arg32=)
c.217-295C>A (n.217-295C>A)
c.199C>A (p.Arg67=)
 dbSNP gnomAD v3 gnomAD v4
17g.63837533A>CCA501202369SMARCD2n.197T>G
c.168T>G (p.Leu56=)
c.126T>G (p.Leu42=)
c.309T>G (p.Leu103=)
c.84T>G (p.Leu28=)
c.165T>G (p.Leu55=)
n.53-296T>G
c.93T>G (p.Leu31=)
c.217-296T>G (n.217-296T>G)
c.198T>G (p.Leu66=)
17g.63837533A>GCA501202370SMARCD2n.197T>C
c.168T>C (p.Leu56=)
c.126T>C (p.Leu42=)
c.309T>C (p.Leu103=)
c.84T>C (p.Leu28=)
c.165T>C (p.Leu55=)
n.53-296T>C
c.93T>C (p.Leu31=)
c.217-296T>C (n.217-296T>C)
c.198T>C (p.Leu66=)
17g.63837533A>TCA501202371SMARCD2n.197T>A
c.168T>A (p.Leu56=)
c.126T>A (p.Leu42=)
c.309T>A (p.Leu103=)
c.84T>A (p.Leu28=)
c.165T>A (p.Leu55=)
n.53-296T>A
c.93T>A (p.Leu31=)
c.217-296T>A (n.217-296T>A)
c.198T>A (p.Leu66=)
17g.63837534A=CA2270105584SMARCD2n.196T=
c.167T= (p.Leu56=)
c.125T= (p.Leu42=)
c.308T= (p.Leu103=)
c.83T= (p.Leu28=)
c.164T= (p.Leu55=)
n.53-297T=
c.92T= (p.Leu31=)
c.217-297T= (n.217-297T=)
c.197T= (p.Leu66=)
17g.63837534A>CCA400601628SMARCD2n.196T>G
c.167T>G (p.Leu56Arg)
c.125T>G (p.Leu42Arg)
c.308T>G (p.Leu103Arg)
c.83T>G (p.Leu28Arg)
c.164T>G (p.Leu55Arg)
n.53-297T>G
c.92T>G (p.Leu31Arg)
c.217-297T>G (n.217-297T>G)
c.197T>G (p.Leu66Arg)
17g.63837534A>GCA400601630SMARCD2n.196T>C
c.167T>C (p.Leu56Pro)
c.125T>C (p.Leu42Pro)
c.308T>C (p.Leu103Pro)
c.83T>C (p.Leu28Pro)
c.164T>C (p.Leu55Pro)
n.53-297T>C
c.92T>C (p.Leu31Pro)
c.217-297T>C (n.217-297T>C)
c.197T>C (p.Leu66Pro)
 dbSNP gnomAD v2 gnomAD v4
17g.63837534A>TCA400601629SMARCD2n.196T>A
c.167T>A (p.Leu56His)
c.125T>A (p.Leu42His)
c.308T>A (p.Leu103His)
c.83T>A (p.Leu28His)
c.164T>A (p.Leu55His)
n.53-297T>A
c.92T>A (p.Leu31His)
c.217-297T>A (n.217-297T>A)
c.197T>A (p.Leu66His)
17g.63837535G>ACA400601631SMARCD2n.195C>T
c.166C>T (p.Leu56Phe)
c.124C>T (p.Leu42Phe)
c.307C>T (p.Leu103Phe)
c.82C>T (p.Leu28Phe)
c.163C>T (p.Leu55Phe)
n.53-298C>T
c.91C>T (p.Leu31Phe)
c.217-298C>T (n.217-298C>T)
c.196C>T (p.Leu66Phe)
17g.63837535G>CCA400601632SMARCD2n.195C>G
c.166C>G (p.Leu56Val)
c.124C>G (p.Leu42Val)
c.307C>G (p.Leu103Val)
c.82C>G (p.Leu28Val)
c.163C>G (p.Leu55Val)
n.53-298C>G
c.91C>G (p.Leu31Val)
c.217-298C>G (n.217-298C>G)
c.196C>G (p.Leu66Val)
17g.63837535G>TCA400601633SMARCD2n.195C>A
c.166C>A (p.Leu56Ile)
c.124C>A (p.Leu42Ile)
c.307C>A (p.Leu103Ile)
c.82C>A (p.Leu28Ile)
c.163C>A (p.Leu55Ile)
n.53-298C>A
c.91C>A (p.Leu31Ile)
c.217-298C>A (n.217-298C>A)
c.196C>A (p.Leu66Ile)
17g.63837536C>ACA501202372SMARCD2n.194G>T
c.165G>T (p.Pro55=)
c.123G>T (p.Pro41=)
c.306G>T (p.Pro102=)
c.81G>T (p.Pro27=)
c.162G>T (p.Pro54=)
n.53-299G>T
c.90G>T (p.Pro30=)
c.217-299G>T (n.217-299G>T)
c.195G>T (p.Pro65=)
 dbSNP gnomAD v3 gnomAD v4
17g.63837536C=CA2270105585SMARCD2n.194G=
c.165G= (p.Pro55=)
c.123G= (p.Pro41=)
c.306G= (p.Pro102=)
c.81G= (p.Pro27=)
c.162G= (p.Pro54=)
n.53-299G=
c.90G= (p.Pro30=)
c.217-299G= (n.217-299G=)
c.195G= (p.Pro65=)
17g.63837536C>GCA501202373SMARCD2n.194G>C
c.165G>C (p.Pro55=)
c.123G>C (p.Pro41=)
c.306G>C (p.Pro102=)
c.81G>C (p.Pro27=)
c.162G>C (p.Pro54=)
n.53-299G>C
c.90G>C (p.Pro30=)
c.217-299G>C (n.217-299G>C)
c.195G>C (p.Pro65=)
 ClinVar dbSNP
17g.63837536C>TCA8706532SMARCD2n.194G>A
c.165G>A (p.Pro55=)
c.123G>A (p.Pro41=)
c.306G>A (p.Pro102=)
c.81G>A (p.Pro27=)
c.162G>A (p.Pro54=)
n.53-299G>A
c.90G>A (p.Pro30=)
c.217-299G>A (n.217-299G>A)
c.195G>A (p.Pro65=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63837537G>ACA8706533SMARCD2n.193C>T
c.164C>T (p.Pro55Leu)
c.122C>T (p.Pro41Leu)
c.305C>T (p.Pro102Leu)
c.80C>T (p.Pro27Leu)
c.161C>T (p.Pro54Leu)
n.53-300C>T
c.89C>T (p.Pro30Leu)
c.217-300C>T (n.217-300C>T)
c.194C>T (p.Pro65Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837537G>CCA400601634SMARCD2n.193C>G
c.164C>G (p.Pro55Arg)
c.122C>G (p.Pro41Arg)
c.305C>G (p.Pro102Arg)
c.80C>G (p.Pro27Arg)
c.161C>G (p.Pro54Arg)
n.53-300C>G
c.89C>G (p.Pro30Arg)
c.217-300C>G (n.217-300C>G)
c.194C>G (p.Pro65Arg)
17g.63837537G=CA2270105586SMARCD2n.193C=
c.164C= (p.Pro55=)
c.122C= (p.Pro41=)
c.305C= (p.Pro102=)
c.80C= (p.Pro27=)
c.161C= (p.Pro54=)
n.53-300C=
c.89C= (p.Pro30=)
c.217-300C= (n.217-300C=)
c.194C= (p.Pro65=)
17g.63837537G>TCA400601635SMARCD2n.193C>A
c.164C>A (p.Pro55Gln)
c.122C>A (p.Pro41Gln)
c.305C>A (p.Pro102Gln)
c.80C>A (p.Pro27Gln)
c.161C>A (p.Pro54Gln)
n.53-300C>A
c.89C>A (p.Pro30Gln)
c.217-300C>A (n.217-300C>A)
c.194C>A (p.Pro65Gln)
17g.63837538G>ACA400601636SMARCD2n.192C>T
c.163C>T (p.Pro55Ser)
c.121C>T (p.Pro41Ser)
c.304C>T (p.Pro102Ser)
c.79C>T (p.Pro27Ser)
c.160C>T (p.Pro54Ser)
n.53-301C>T
c.88C>T (p.Pro30Ser)
c.217-301C>T (n.217-301C>T)
c.193C>T (p.Pro65Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.63837538G>CCA400601637SMARCD2n.192C>G
c.163C>G (p.Pro55Ala)
c.121C>G (p.Pro41Ala)
c.304C>G (p.Pro102Ala)
c.79C>G (p.Pro27Ala)
c.160C>G (p.Pro54Ala)
n.53-301C>G
c.88C>G (p.Pro30Ala)
c.217-301C>G (n.217-301C>G)
c.193C>G (p.Pro65Ala)
17g.63837538G=CA2270105587SMARCD2n.192C=
c.163C= (p.Pro55=)
c.121C= (p.Pro41=)
c.304C= (p.Pro102=)
c.79C= (p.Pro27=)
c.160C= (p.Pro54=)
n.53-301C=
c.88C= (p.Pro30=)
c.217-301C= (n.217-301C=)
c.193C= (p.Pro65=)
17g.63837538G>TCA400601638SMARCD2n.192C>A
c.163C>A (p.Pro55Thr)
c.121C>A (p.Pro41Thr)
c.304C>A (p.Pro102Thr)
c.79C>A (p.Pro27Thr)
c.160C>A (p.Pro54Thr)
n.53-301C>A
c.88C>A (p.Pro30Thr)
c.217-301C>A (n.217-301C>A)
c.193C>A (p.Pro65Thr)
17g.63837539A>CCA501202374SMARCD2n.191T>G
c.162T>G (p.Ala54=)
c.120T>G (p.Ala40=)
c.303T>G (p.Ala101=)
c.78T>G (p.Ala26=)
c.159T>G (p.Ala53=)
n.53-302T>G
c.87T>G (p.Ala29=)
c.217-302T>G (n.217-302T>G)
c.192T>G (p.Ala64=)
17g.63837539A>GCA501202375SMARCD2n.191T>C
c.162T>C (p.Ala54=)
c.120T>C (p.Ala40=)
c.303T>C (p.Ala101=)
c.78T>C (p.Ala26=)
c.159T>C (p.Ala53=)
n.53-302T>C
c.87T>C (p.Ala29=)
c.217-302T>C (n.217-302T>C)
c.192T>C (p.Ala64=)
17g.63837539A>TCA501202376SMARCD2n.191T>A
c.162T>A (p.Ala54=)
c.120T>A (p.Ala40=)
c.303T>A (p.Ala101=)
c.78T>A (p.Ala26=)
c.159T>A (p.Ala53=)
n.53-302T>A
c.87T>A (p.Ala29=)
c.217-302T>A (n.217-302T>A)
c.192T>A (p.Ala64=)
17g.63837540G>ACA400601639SMARCD2n.190C>T
c.161C>T (p.Ala54Val)
c.119C>T (p.Ala40Val)
c.302C>T (p.Ala101Val)
c.77C>T (p.Ala26Val)
c.158C>T (p.Ala53Val)
n.53-303C>T
c.86C>T (p.Ala29Val)
c.217-303C>T (n.217-303C>T)
c.191C>T (p.Ala64Val)
17g.63837540G>CCA400601640SMARCD2n.190C>G
c.161C>G (p.Ala54Gly)
c.119C>G (p.Ala40Gly)
c.302C>G (p.Ala101Gly)
c.77C>G (p.Ala26Gly)
c.158C>G (p.Ala53Gly)
n.53-303C>G
c.86C>G (p.Ala29Gly)
c.217-303C>G (n.217-303C>G)
c.191C>G (p.Ala64Gly)
17g.63837540G>TCA400601641SMARCD2n.190C>A
c.161C>A (p.Ala54Asp)
c.119C>A (p.Ala40Asp)
c.302C>A (p.Ala101Asp)
c.77C>A (p.Ala26Asp)
c.158C>A (p.Ala53Asp)
n.53-303C>A
c.86C>A (p.Ala29Asp)
c.217-303C>A (n.217-303C>A)
c.191C>A (p.Ala64Asp)
17g.63837541C>ACA400601642SMARCD2n.189G>T
c.160G>T (p.Ala54Ser)
c.118G>T (p.Ala40Ser)
c.301G>T (p.Ala101Ser)
c.76G>T (p.Ala26Ser)
c.157G>T (p.Ala53Ser)
n.53-304G>T
c.85G>T (p.Ala29Ser)
c.217-304G>T (n.217-304G>T)
c.190G>T (p.Ala64Ser)
 gnomAD v4
17g.63837541C=CA2270105588SMARCD2n.189G=
c.160G= (p.Ala54=)
c.118G= (p.Ala40=)
c.301G= (p.Ala101=)
c.76G= (p.Ala26=)
c.157G= (p.Ala53=)
n.53-304G=
c.85G= (p.Ala29=)
c.217-304G= (n.217-304G=)
c.190G= (p.Ala64=)
17g.63837541C>GCA400601644SMARCD2n.189G>C
c.160G>C (p.Ala54Pro)
c.118G>C (p.Ala40Pro)
c.301G>C (p.Ala101Pro)
c.76G>C (p.Ala26Pro)
c.157G>C (p.Ala53Pro)
n.53-304G>C
c.85G>C (p.Ala29Pro)
c.217-304G>C (n.217-304G>C)
c.190G>C (p.Ala64Pro)
 dbSNP gnomAD v4
17g.63837541C>TCA400601643SMARCD2n.189G>A
c.160G>A (p.Ala54Thr)
c.118G>A (p.Ala40Thr)
c.301G>A (p.Ala101Thr)
c.76G>A (p.Ala26Thr)
c.157G>A (p.Ala53Thr)
n.53-304G>A
c.85G>A (p.Ala29Thr)
c.217-304G>A (n.217-304G>A)
c.190G>A (p.Ala64Thr)
17g.63837542T>ACA501202377SMARCD2n.188A>T
c.159A>T (p.Ala53=)
c.117A>T (p.Ala39=)
c.300A>T (p.Ala100=)
c.75A>T (p.Ala25=)
c.156A>T (p.Ala52=)
n.53-305A>T
c.84A>T (p.Ala28=)
c.217-305A>T (n.217-305A>T)
c.189A>T (p.Ala63=)
17g.63837542T>CCA501202378SMARCD2n.188A>G
c.159A>G (p.Ala53=)
c.117A>G (p.Ala39=)
c.300A>G (p.Ala100=)
c.75A>G (p.Ala25=)
c.156A>G (p.Ala52=)
n.53-305A>G
c.84A>G (p.Ala28=)
c.217-305A>G (n.217-305A>G)
c.189A>G (p.Ala63=)
17g.63837542T>GCA501202379SMARCD2n.188A>C
c.159A>C (p.Ala53=)
c.117A>C (p.Ala39=)
c.300A>C (p.Ala100=)
c.75A>C (p.Ala25=)
c.156A>C (p.Ala52=)
n.53-305A>C
c.84A>C (p.Ala28=)
c.217-305A>C (n.217-305A>C)
c.189A>C (p.Ala63=)
17g.63837542_63837543insCATTTAAAACATACTGCA2810124245SMARCD2n.187_188insCAGTATGTTTTAAATG
c.158_159insCAGTATGTTTTAAATG (p.Ala54SerfsTer4)
c.116_117insCAGTATGTTTTAAATG (p.Ala40SerfsTer4)
c.299_300insCAGTATGTTTTAAATG (p.Ala101SerfsTer4)
c.74_75insCAGTATGTTTTAAATG (p.Ala26SerfsTer4)
c.155_156insCAGTATGTTTTAAATG (p.Ala53SerfsTer4)
n.53-306_53-305insCAGTATGTTTTAAATG
c.83_84insCAGTATGTTTTAAATG (p.Ala29SerfsTer4)
c.217-306_217-305insCAGTATGTTTTAAATG (n.217-306_217-305insCAGTATGTTTTAAATG)
c.188_189insCAGTATGTTTTAAATG (p.Ala64SerfsTer4)
17g.63837543G>ACA400601645SMARCD2n.187C>T
c.158C>T (p.Ala53Val)
c.116C>T (p.Ala39Val)
c.299C>T (p.Ala100Val)
c.74C>T (p.Ala25Val)
c.155C>T (p.Ala52Val)
n.53-306C>T
c.83C>T (p.Ala28Val)
c.217-306C>T (n.217-306C>T)
c.188C>T (p.Ala63Val)
17g.63837543G>CCA400601646SMARCD2n.187C>G
c.158C>G (p.Ala53Gly)
c.116C>G (p.Ala39Gly)
c.299C>G (p.Ala100Gly)
c.74C>G (p.Ala25Gly)
c.155C>G (p.Ala52Gly)
n.53-306C>G
c.83C>G (p.Ala28Gly)
c.217-306C>G (n.217-306C>G)
c.188C>G (p.Ala63Gly)
17g.63837543G>TCA400601647SMARCD2n.187C>A
c.158C>A (p.Ala53Glu)
c.116C>A (p.Ala39Glu)
c.299C>A (p.Ala100Glu)
c.74C>A (p.Ala25Glu)
c.155C>A (p.Ala52Glu)
n.53-306C>A
c.83C>A (p.Ala28Glu)
c.217-306C>A (n.217-306C>A)
c.188C>A (p.Ala63Glu)
17g.63837544C>ACA400601648SMARCD2n.186G>T
c.157G>T (p.Ala53Ser)
c.115G>T (p.Ala39Ser)
c.298G>T (p.Ala100Ser)
c.73G>T (p.Ala25Ser)
c.154G>T (p.Ala52Ser)
n.53-307G>T
c.82G>T (p.Ala28Ser)
c.217-307G>T (n.217-307G>T)
c.187G>T (p.Ala63Ser)
17g.63837544C>GCA400601649SMARCD2n.186G>C
c.157G>C (p.Ala53Pro)
c.115G>C (p.Ala39Pro)
c.298G>C (p.Ala100Pro)
c.73G>C (p.Ala25Pro)
c.154G>C (p.Ala52Pro)
n.53-307G>C
c.82G>C (p.Ala28Pro)
c.217-307G>C (n.217-307G>C)
c.187G>C (p.Ala63Pro)
17g.63837544C>TCA400601650SMARCD2n.186G>A
c.157G>A (p.Ala53Thr)
c.115G>A (p.Ala39Thr)
c.298G>A (p.Ala100Thr)
c.73G>A (p.Ala25Thr)
c.154G>A (p.Ala52Thr)
n.53-307G>A
c.82G>A (p.Ala28Thr)
c.217-307G>A (n.217-307G>A)
c.187G>A (p.Ala63Thr)
17g.63837544_63837545insCCCAACACATTCAACTGAGTCA2810124246SMARCD2n.185_186insACTCAGTTGAATGTGTTGGG
c.156_157insACTCAGTTGAATGTGTTGGG (p.Ala53ThrfsTer19)
c.114_115insACTCAGTTGAATGTGTTGGG (p.Ala39ThrfsTer19)
c.297_298insACTCAGTTGAATGTGTTGGG (p.Ala100ThrfsTer19)
c.72_73insACTCAGTTGAATGTGTTGGG (p.Ala25ThrfsTer19)
c.153_154insACTCAGTTGAATGTGTTGGG (p.Ala52ThrfsTer19)
n.53-308_53-307insACTCAGTTGAATGTGTTGGG
c.81_82insACTCAGTTGAATGTGTTGGG (p.Ala28ThrfsTer19)
c.217-308_217-307insACTCAGTTGAATGTGTTGGG (n.217-308_217-307insACTCAGTTGAATGTGTTGGG)
c.186_187insACTCAGTTGAATGTGTTGGG (p.Ala63ThrfsTer19)
17g.63837545T>ACA501202380SMARCD2n.185A>T
c.156A>T (p.Ala52=)
c.114A>T (p.Ala38=)
c.297A>T (p.Ala99=)
c.72A>T (p.Ala24=)
c.153A>T (p.Ala51=)
n.53-308A>T
c.81A>T (p.Ala27=)
c.217-308A>T (n.217-308A>T)
c.186A>T (p.Ala62=)
17g.63837545T>CCA501202381SMARCD2n.185A>G
c.156A>G (p.Ala52=)
c.114A>G (p.Ala38=)
c.297A>G (p.Ala99=)
c.72A>G (p.Ala24=)
c.153A>G (p.Ala51=)
n.53-308A>G
c.81A>G (p.Ala27=)
c.217-308A>G (n.217-308A>G)
c.186A>G (p.Ala62=)
 gnomAD v4
17g.63837545T>GCA501202382SMARCD2n.185A>C
c.156A>C (p.Ala52=)
c.114A>C (p.Ala38=)
c.297A>C (p.Ala99=)
c.72A>C (p.Ala24=)
c.153A>C (p.Ala51=)
n.53-308A>C
c.81A>C (p.Ala27=)
c.217-308A>C (n.217-308A>C)
c.186A>C (p.Ala62=)

Number of alleles fetched