Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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=)
17g.63837546G>ACA400601651SMARCD2n.184C>T
c.155C>T (p.Ala52Val)
c.113C>T (p.Ala38Val)
c.296C>T (p.Ala99Val)
c.71C>T (p.Ala24Val)
c.152C>T (p.Ala51Val)
n.53-309C>T
c.80C>T (p.Ala27Val)
c.217-309C>T (n.217-309C>T)
c.185C>T (p.Ala62Val)
17g.63837546G>CCA400601652SMARCD2n.184C>G
c.155C>G (p.Ala52Gly)
c.113C>G (p.Ala38Gly)
c.296C>G (p.Ala99Gly)
c.71C>G (p.Ala24Gly)
c.152C>G (p.Ala51Gly)
n.53-309C>G
c.80C>G (p.Ala27Gly)
c.217-309C>G (n.217-309C>G)
c.185C>G (p.Ala62Gly)
17g.63837546G>TCA400601653SMARCD2n.184C>A
c.155C>A (p.Ala52Glu)
c.113C>A (p.Ala38Glu)
c.296C>A (p.Ala99Glu)
c.71C>A (p.Ala24Glu)
c.152C>A (p.Ala51Glu)
n.53-309C>A
c.80C>A (p.Ala27Glu)
c.217-309C>A (n.217-309C>A)
c.185C>A (p.Ala62Glu)
17g.63837547C>ACA400601656SMARCD2n.183G>T
c.154G>T (p.Ala52Ser)
c.112G>T (p.Ala38Ser)
c.295G>T (p.Ala99Ser)
c.70G>T (p.Ala24Ser)
c.151G>T (p.Ala51Ser)
n.53-310G>T
c.79G>T (p.Ala27Ser)
c.217-310G>T (n.217-310G>T)
c.184G>T (p.Ala62Ser)
17g.63837547C>GCA400601655SMARCD2n.183G>C
c.154G>C (p.Ala52Pro)
c.112G>C (p.Ala38Pro)
c.295G>C (p.Ala99Pro)
c.70G>C (p.Ala24Pro)
c.151G>C (p.Ala51Pro)
n.53-310G>C
c.79G>C (p.Ala27Pro)
c.217-310G>C (n.217-310G>C)
c.184G>C (p.Ala62Pro)
17g.63837547C>TCA400601654SMARCD2n.183G>A
c.154G>A (p.Ala52Thr)
c.112G>A (p.Ala38Thr)
c.295G>A (p.Ala99Thr)
c.70G>A (p.Ala24Thr)
c.151G>A (p.Ala51Thr)
n.53-310G>A
c.79G>A (p.Ala27Thr)
c.217-310G>A (n.217-310G>A)
c.184G>A (p.Ala62Thr)
17g.63837548A>CCA501202384SMARCD2n.182T>G
c.153T>G (p.Gly51=)
c.111T>G (p.Gly37=)
c.294T>G (p.Gly98=)
c.69T>G (p.Gly23=)
c.150T>G (p.Gly50=)
n.53-311T>G
c.78T>G (p.Gly26=)
c.217-311T>G (n.217-311T>G)
c.183T>G (p.Gly61=)
17g.63837548A>GCA501202386SMARCD2n.182T>C
c.153T>C (p.Gly51=)
c.111T>C (p.Gly37=)
c.294T>C (p.Gly98=)
c.69T>C (p.Gly23=)
c.150T>C (p.Gly50=)
n.53-311T>C
c.78T>C (p.Gly26=)
c.217-311T>C (n.217-311T>C)
c.183T>C (p.Gly61=)
17g.63837548A>TCA501202385SMARCD2n.182T>A
c.153T>A (p.Gly51=)
c.111T>A (p.Gly37=)
c.294T>A (p.Gly98=)
c.69T>A (p.Gly23=)
c.150T>A (p.Gly50=)
n.53-311T>A
c.78T>A (p.Gly26=)
c.217-311T>A (n.217-311T>A)
c.183T>A (p.Gly61=)
17g.63837549C>ACA400601657SMARCD2n.181G>T
c.152G>T (p.Gly51Val)
c.110G>T (p.Gly37Val)
c.293G>T (p.Gly98Val)
c.68G>T (p.Gly23Val)
c.149G>T (p.Gly50Val)
n.53-312G>T
c.77G>T (p.Gly26Val)
c.217-312G>T (n.217-312G>T)
c.182G>T (p.Gly61Val)
ClinVar
17g.63837549C>GCA400601658SMARCD2n.181G>C
c.152G>C (p.Gly51Ala)
c.110G>C (p.Gly37Ala)
c.293G>C (p.Gly98Ala)
c.68G>C (p.Gly23Ala)
c.149G>C (p.Gly50Ala)
n.53-312G>C
c.77G>C (p.Gly26Ala)
c.217-312G>C (n.217-312G>C)
c.182G>C (p.Gly61Ala)
17g.63837549C>TCA400601659SMARCD2n.181G>A
c.152G>A (p.Gly51Asp)
c.110G>A (p.Gly37Asp)
c.293G>A (p.Gly98Asp)
c.68G>A (p.Gly23Asp)
c.149G>A (p.Gly50Asp)
n.53-312G>A
c.77G>A (p.Gly26Asp)
c.217-312G>A (n.217-312G>A)
c.182G>A (p.Gly61Asp)
gnomAD v4
17g.63837550C>ACA400601660SMARCD2n.180G>T
c.151G>T (p.Gly51Cys)
c.109G>T (p.Gly37Cys)
c.292G>T (p.Gly98Cys)
c.67G>T (p.Gly23Cys)
c.148G>T (p.Gly50Cys)
n.53-313G>T
c.76G>T (p.Gly26Cys)
c.217-313G>T (n.217-313G>T)
c.181G>T (p.Gly61Cys)
17g.63837550C>GCA400601661SMARCD2n.180G>C
c.151G>C (p.Gly51Arg)
c.109G>C (p.Gly37Arg)
c.292G>C (p.Gly98Arg)
c.67G>C (p.Gly23Arg)
c.148G>C (p.Gly50Arg)
n.53-313G>C
c.76G>C (p.Gly26Arg)
c.217-313G>C (n.217-313G>C)
c.181G>C (p.Gly61Arg)
17g.63837550C>TCA400601662SMARCD2n.180G>A
c.151G>A (p.Gly51Ser)
c.109G>A (p.Gly37Ser)
c.292G>A (p.Gly98Ser)
c.67G>A (p.Gly23Ser)
c.148G>A (p.Gly50Ser)
n.53-313G>A
c.76G>A (p.Gly26Ser)
c.217-313G>A (n.217-313G>A)
c.181G>A (p.Gly61Ser)
17g.63837551A=CA2270105589SMARCD2n.179T=
c.150T= (p.Phe50=)
c.108T= (p.Phe36=)
c.291T= (p.Phe97=)
c.66T= (p.Phe22=)
c.147T= (p.Phe49=)
n.53-314T=
c.75T= (p.Phe25=)
c.217-314T= (n.217-314T=)
c.180T= (p.Phe60=)
17g.63837551A>CCA400601663SMARCD2n.179T>G
c.150T>G (p.Phe50Leu)
c.108T>G (p.Phe36Leu)
c.291T>G (p.Phe97Leu)
c.66T>G (p.Phe22Leu)
c.147T>G (p.Phe49Leu)
n.53-314T>G
c.75T>G (p.Phe25Leu)
c.217-314T>G (n.217-314T>G)
c.180T>G (p.Phe60Leu)
17g.63837551A>GCA8706534SMARCD2n.179T>C
c.150T>C (p.Phe50=)
c.108T>C (p.Phe36=)
c.291T>C (p.Phe97=)
c.66T>C (p.Phe22=)
c.147T>C (p.Phe49=)
n.53-314T>C
c.75T>C (p.Phe25=)
c.217-314T>C (n.217-314T>C)
c.180T>C (p.Phe60=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837551A>TCA400601664SMARCD2n.179T>A
c.150T>A (p.Phe50Leu)
c.108T>A (p.Phe36Leu)
c.291T>A (p.Phe97Leu)
c.66T>A (p.Phe22Leu)
c.147T>A (p.Phe49Leu)
n.53-314T>A
c.75T>A (p.Phe25Leu)
c.217-314T>A (n.217-314T>A)
c.180T>A (p.Phe60Leu)
17g.63837552A>CCA400601665SMARCD2n.178T>G
c.149T>G (p.Phe50Cys)
c.107T>G (p.Phe36Cys)
c.290T>G (p.Phe97Cys)
c.65T>G (p.Phe22Cys)
c.146T>G (p.Phe49Cys)
n.53-315T>G
c.74T>G (p.Phe25Cys)
c.217-315T>G (n.217-315T>G)
c.179T>G (p.Phe60Cys)
17g.63837552A>GCA400601666SMARCD2n.178T>C
c.149T>C (p.Phe50Ser)
c.107T>C (p.Phe36Ser)
c.290T>C (p.Phe97Ser)
c.65T>C (p.Phe22Ser)
c.146T>C (p.Phe49Ser)
n.53-315T>C
c.74T>C (p.Phe25Ser)
c.217-315T>C (n.217-315T>C)
c.179T>C (p.Phe60Ser)
17g.63837552A>TCA400601667SMARCD2n.178T>A
c.149T>A (p.Phe50Tyr)
c.107T>A (p.Phe36Tyr)
c.290T>A (p.Phe97Tyr)
c.65T>A (p.Phe22Tyr)
c.146T>A (p.Phe49Tyr)
n.53-315T>A
c.74T>A (p.Phe25Tyr)
c.217-315T>A (n.217-315T>A)
c.179T>A (p.Phe60Tyr)
17g.63837553A>CCA400601670SMARCD2n.177T>G
c.148T>G (p.Phe50Val)
c.106T>G (p.Phe36Val)
c.289T>G (p.Phe97Val)
c.64T>G (p.Phe22Val)
c.145T>G (p.Phe49Val)
n.53-316T>G
c.73T>G (p.Phe25Val)
c.217-316T>G (n.217-316T>G)
c.178T>G (p.Phe60Val)
17g.63837553A>GCA400601668SMARCD2n.177T>C
c.148T>C (p.Phe50Leu)
c.106T>C (p.Phe36Leu)
c.289T>C (p.Phe97Leu)
c.64T>C (p.Phe22Leu)
c.145T>C (p.Phe49Leu)
n.53-316T>C
c.73T>C (p.Phe25Leu)
c.217-316T>C (n.217-316T>C)
c.178T>C (p.Phe60Leu)
17g.63837553A>TCA400601669SMARCD2n.177T>A
c.148T>A (p.Phe50Ile)
c.106T>A (p.Phe36Ile)
c.289T>A (p.Phe97Ile)
c.64T>A (p.Phe22Ile)
c.145T>A (p.Phe49Ile)
n.53-316T>A
c.73T>A (p.Phe25Ile)
c.217-316T>A (n.217-316T>A)
c.178T>A (p.Phe60Ile)
17g.63837554T>ACA501202392SMARCD2n.176A>T
c.147A>T (p.Pro49=)
c.105A>T (p.Pro35=)
c.288A>T (p.Pro96=)
c.63A>T (p.Pro21=)
c.144A>T (p.Pro48=)
n.53-317A>T
c.72A>T (p.Pro24=)
c.217-317A>T (n.217-317A>T)
c.177A>T (p.Pro59=)
17g.63837554T>CCA501202393SMARCD2n.176A>G
c.147A>G (p.Pro49=)
c.105A>G (p.Pro35=)
c.288A>G (p.Pro96=)
c.63A>G (p.Pro21=)
c.144A>G (p.Pro48=)
n.53-317A>G
c.72A>G (p.Pro24=)
c.217-317A>G (n.217-317A>G)
c.177A>G (p.Pro59=)
dbSNP gnomAD v4
17g.63837554T>GCA501202394SMARCD2n.176A>C
c.147A>C (p.Pro49=)
c.105A>C (p.Pro35=)
c.288A>C (p.Pro96=)
c.63A>C (p.Pro21=)
c.144A>C (p.Pro48=)
n.53-317A>C
c.72A>C (p.Pro24=)
c.217-317A>C (n.217-317A>C)
c.177A>C (p.Pro59=)
17g.63837554T=CA2270105590SMARCD2n.176A=
c.147A= (p.Pro49=)
c.105A= (p.Pro35=)
c.288A= (p.Pro96=)
c.63A= (p.Pro21=)
c.144A= (p.Pro48=)
n.53-317A=
c.72A= (p.Pro24=)
c.217-317A= (n.217-317A=)
c.177A= (p.Pro59=)
17g.63837555G>ACA8706535SMARCD2n.175C>T
c.146C>T (p.Pro49Leu)
c.104C>T (p.Pro35Leu)
c.287C>T (p.Pro96Leu)
c.62C>T (p.Pro21Leu)
c.143C>T (p.Pro48Leu)
n.53-318C>T
c.71C>T (p.Pro24Leu)
c.217-318C>T (n.217-318C>T)
c.176C>T (p.Pro59Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63837555G>CCA400601671SMARCD2n.175C>G
c.146C>G (p.Pro49Arg)
c.104C>G (p.Pro35Arg)
c.287C>G (p.Pro96Arg)
c.62C>G (p.Pro21Arg)
c.143C>G (p.Pro48Arg)
n.53-318C>G
c.71C>G (p.Pro24Arg)
c.217-318C>G (n.217-318C>G)
c.176C>G (p.Pro59Arg)
17g.63837555G=CA2270105591SMARCD2n.175C=
c.146C= (p.Pro49=)
c.104C= (p.Pro35=)
c.287C= (p.Pro96=)
c.62C= (p.Pro21=)
c.143C= (p.Pro48=)
n.53-318C=
c.71C= (p.Pro24=)
c.217-318C= (n.217-318C=)
c.176C= (p.Pro59=)
17g.63837555G>TCA400601672SMARCD2n.175C>A
c.146C>A (p.Pro49Gln)
c.104C>A (p.Pro35Gln)
c.287C>A (p.Pro96Gln)
c.62C>A (p.Pro21Gln)
c.143C>A (p.Pro48Gln)
n.53-318C>A
c.71C>A (p.Pro24Gln)
c.217-318C>A (n.217-318C>A)
c.176C>A (p.Pro59Gln)
17g.63837558delCA645572038SMARCD2n.175del
c.146del (p.Pro49HisfsTer16)
c.104del (p.Pro35HisfsTer16)
c.287del (p.Pro96HisfsTer16)
c.62del (p.Pro21HisfsTer16)
c.143del (p.Pro48HisfsTer16)
n.53-318del
c.71del (p.Pro24HisfsTer16)
c.217-318del (n.217-318del)
c.176del (p.Pro59HisfsTer16)
COSMIC
17g.63837556G>ACA400601673SMARCD2n.174C>T
c.145C>T (p.Pro49Ser)
c.103C>T (p.Pro35Ser)
c.286C>T (p.Pro96Ser)
c.61C>T (p.Pro21Ser)
c.142C>T (p.Pro48Ser)
n.53-319C>T
c.70C>T (p.Pro24Ser)
c.217-319C>T (n.217-319C>T)
c.175C>T (p.Pro59Ser)
17g.63837556G>CCA400601674SMARCD2n.174C>G
c.145C>G (p.Pro49Ala)
c.103C>G (p.Pro35Ala)
c.286C>G (p.Pro96Ala)
c.61C>G (p.Pro21Ala)
c.142C>G (p.Pro48Ala)
n.53-319C>G
c.70C>G (p.Pro24Ala)
c.217-319C>G (n.217-319C>G)
c.175C>G (p.Pro59Ala)
gnomAD v4
17g.63837556G>TCA400601675SMARCD2n.174C>A
c.145C>A (p.Pro49Thr)
c.103C>A (p.Pro35Thr)
c.286C>A (p.Pro96Thr)
c.61C>A (p.Pro21Thr)
c.142C>A (p.Pro48Thr)
n.53-319C>A
c.70C>A (p.Pro24Thr)
c.217-319C>A (n.217-319C>A)
c.175C>A (p.Pro59Thr)
17g.63837557G>ACA501202397SMARCD2n.173C>T
c.144C>T (p.Ser48=)
c.102C>T (p.Ser34=)
c.285C>T (p.Ser95=)
c.60C>T (p.Ser20=)
c.141C>T (p.Ser47=)
n.53-320C>T
c.69C>T (p.Ser23=)
c.217-320C>T (n.217-320C>T)
c.174C>T (p.Ser58=)
17g.63837557G>CCA501202398SMARCD2n.173C>G
c.144C>G (p.Ser48=)
c.102C>G (p.Ser34=)
c.285C>G (p.Ser95=)
c.60C>G (p.Ser20=)
c.141C>G (p.Ser47=)
n.53-320C>G
c.69C>G (p.Ser23=)
c.217-320C>G (n.217-320C>G)
c.174C>G (p.Ser58=)
17g.63837557G>TCA501202399SMARCD2n.173C>A
c.144C>A (p.Ser48=)
c.102C>A (p.Ser34=)
c.285C>A (p.Ser95=)
c.60C>A (p.Ser20=)
c.141C>A (p.Ser47=)
n.53-320C>A
c.69C>A (p.Ser23=)
c.217-320C>A (n.217-320C>A)
c.174C>A (p.Ser58=)
17g.63837558G>ACA400601676SMARCD2n.172C>T
c.143C>T (p.Ser48Phe)
c.101C>T (p.Ser34Phe)
c.284C>T (p.Ser95Phe)
c.59C>T (p.Ser20Phe)
c.140C>T (p.Ser47Phe)
n.53-321C>T
c.68C>T (p.Ser23Phe)
c.217-321C>T (n.217-321C>T)
c.173C>T (p.Ser58Phe)
17g.63837558G>CCA400601677SMARCD2n.172C>G
c.143C>G (p.Ser48Cys)
c.101C>G (p.Ser34Cys)
c.284C>G (p.Ser95Cys)
c.59C>G (p.Ser20Cys)
c.140C>G (p.Ser47Cys)
n.53-321C>G
c.68C>G (p.Ser23Cys)
c.217-321C>G (n.217-321C>G)
c.173C>G (p.Ser58Cys)
17g.63837558G>TCA400601678SMARCD2n.172C>A
c.143C>A (p.Ser48Tyr)
c.101C>A (p.Ser34Tyr)
c.284C>A (p.Ser95Tyr)
c.59C>A (p.Ser20Tyr)
c.140C>A (p.Ser47Tyr)
n.53-321C>A
c.68C>A (p.Ser23Tyr)
c.217-321C>A (n.217-321C>A)
c.173C>A (p.Ser58Tyr)
17g.63837559A>CCA400601679SMARCD2n.171T>G
c.142T>G (p.Ser48Ala)
c.100T>G (p.Ser34Ala)
c.283T>G (p.Ser95Ala)
c.58T>G (p.Ser20Ala)
c.139T>G (p.Ser47Ala)
n.53-322T>G
c.67T>G (p.Ser23Ala)
c.217-322T>G (n.217-322T>G)
c.172T>G (p.Ser58Ala)
17g.63837559A>GCA400601680SMARCD2n.171T>C
c.142T>C (p.Ser48Pro)
c.100T>C (p.Ser34Pro)
c.283T>C (p.Ser95Pro)
c.58T>C (p.Ser20Pro)
c.139T>C (p.Ser47Pro)
n.53-322T>C
c.67T>C (p.Ser23Pro)
c.217-322T>C (n.217-322T>C)
c.172T>C (p.Ser58Pro)
17g.63837559A>TCA400601681SMARCD2n.171T>A
c.142T>A (p.Ser48Thr)
c.100T>A (p.Ser34Thr)
c.283T>A (p.Ser95Thr)
c.58T>A (p.Ser20Thr)
c.139T>A (p.Ser47Thr)
n.53-322T>A
c.67T>A (p.Ser23Thr)
c.217-322T>A (n.217-322T>A)
c.172T>A (p.Ser58Thr)
17g.63837560G>ACA501202402SMARCD2n.170C>T
c.141C>T (p.Gly47=)
c.99C>T (p.Gly33=)
c.282C>T (p.Gly94=)
c.57C>T (p.Gly19=)
c.138C>T (p.Gly46=)
n.53-323C>T
c.66C>T (p.Gly22=)
c.217-323C>T (n.217-323C>T)
c.171C>T (p.Gly57=)
dbSNP gnomAD v4
17g.63837560G>CCA501202404SMARCD2n.170C>G
c.141C>G (p.Gly47=)
c.99C>G (p.Gly33=)
c.282C>G (p.Gly94=)
c.57C>G (p.Gly19=)
c.138C>G (p.Gly46=)
n.53-323C>G
c.66C>G (p.Gly22=)
c.217-323C>G (n.217-323C>G)
c.171C>G (p.Gly57=)
17g.63837560G=CA2270105592SMARCD2n.170C=
c.141C= (p.Gly47=)
c.99C= (p.Gly33=)
c.282C= (p.Gly94=)
c.57C= (p.Gly19=)
c.138C= (p.Gly46=)
n.53-323C=
c.66C= (p.Gly22=)
c.217-323C= (n.217-323C=)
c.171C= (p.Gly57=)
17g.63837560G>TCA501202405SMARCD2n.170C>A
c.141C>A (p.Gly47=)
c.99C>A (p.Gly33=)
c.282C>A (p.Gly94=)
c.57C>A (p.Gly19=)
c.138C>A (p.Gly46=)
n.53-323C>A
c.66C>A (p.Gly22=)
c.217-323C>A (n.217-323C>A)
c.171C>A (p.Gly57=)
17g.63837561C>ACA400601683SMARCD2n.169G>T
c.140G>T (p.Gly47Val)
c.98G>T (p.Gly33Val)
c.281G>T (p.Gly94Val)
c.56G>T (p.Gly19Val)
c.137G>T (p.Gly46Val)
n.53-324G>T
c.65G>T (p.Gly22Val)
c.217-324G>T (n.217-324G>T)
c.170G>T (p.Gly57Val)
dbSNP gnomAD v2 gnomAD v4
17g.63837561C=CA2270105593SMARCD2n.169G=
c.140G= (p.Gly47=)
c.98G= (p.Gly33=)
c.281G= (p.Gly94=)
c.56G= (p.Gly19=)
c.137G= (p.Gly46=)
n.53-324G=
c.65G= (p.Gly22=)
c.217-324G= (n.217-324G=)
c.170G= (p.Gly57=)
17g.63837561C>GCA400601684SMARCD2n.169G>C
c.140G>C (p.Gly47Ala)
c.98G>C (p.Gly33Ala)
c.281G>C (p.Gly94Ala)
c.56G>C (p.Gly19Ala)
c.137G>C (p.Gly46Ala)
n.53-324G>C
c.65G>C (p.Gly22Ala)
c.217-324G>C (n.217-324G>C)
c.170G>C (p.Gly57Ala)
gnomAD v4
17g.63837561C>TCA400601682SMARCD2n.169G>A
c.140G>A (p.Gly47Asp)
c.98G>A (p.Gly33Asp)
c.281G>A (p.Gly94Asp)
c.56G>A (p.Gly19Asp)
c.137G>A (p.Gly46Asp)
n.53-324G>A
c.65G>A (p.Gly22Asp)
c.217-324G>A (n.217-324G>A)
c.170G>A (p.Gly57Asp)
gnomAD v4
17g.63837562C>ACA400601685SMARCD2n.168G>T
c.139G>T (p.Gly47Cys)
c.97G>T (p.Gly33Cys)
c.280G>T (p.Gly94Cys)
c.55G>T (p.Gly19Cys)
c.136G>T (p.Gly46Cys)
n.53-325G>T
c.64G>T (p.Gly22Cys)
c.217-325G>T (n.217-325G>T)
c.169G>T (p.Gly57Cys)
17g.63837562C>GCA400601686SMARCD2n.168G>C
c.139G>C (p.Gly47Arg)
c.97G>C (p.Gly33Arg)
c.280G>C (p.Gly94Arg)
c.55G>C (p.Gly19Arg)
c.136G>C (p.Gly46Arg)
n.53-325G>C
c.64G>C (p.Gly22Arg)
c.217-325G>C (n.217-325G>C)
c.169G>C (p.Gly57Arg)
17g.63837562C>TCA400601687SMARCD2n.168G>A
c.139G>A (p.Gly47Ser)
c.97G>A (p.Gly33Ser)
c.280G>A (p.Gly94Ser)
c.55G>A (p.Gly19Ser)
c.136G>A (p.Gly46Ser)
n.53-325G>A
c.64G>A (p.Gly22Ser)
c.217-325G>A (n.217-325G>A)
c.169G>A (p.Gly57Ser)
gnomAD v4
17g.63837563A>CCA501202406SMARCD2n.167T>G
c.138T>G (p.Ala46=)
c.96T>G (p.Ala32=)
c.279T>G (p.Ala93=)
c.54T>G (p.Ala18=)
c.135T>G (p.Ala45=)
n.53-326T>G
c.63T>G (p.Ala21=)
c.217-326T>G (n.217-326T>G)
c.168T>G (p.Ala56=)
17g.63837563A>GCA501202408SMARCD2n.167T>C
c.138T>C (p.Ala46=)
c.96T>C (p.Ala32=)
c.279T>C (p.Ala93=)
c.54T>C (p.Ala18=)
c.135T>C (p.Ala45=)
n.53-326T>C
c.63T>C (p.Ala21=)
c.217-326T>C (n.217-326T>C)
c.168T>C (p.Ala56=)
17g.63837563A>TCA501202409SMARCD2n.167T>A
c.138T>A (p.Ala46=)
c.96T>A (p.Ala32=)
c.279T>A (p.Ala93=)
c.54T>A (p.Ala18=)
c.135T>A (p.Ala45=)
n.53-326T>A
c.63T>A (p.Ala21=)
c.217-326T>A (n.217-326T>A)
c.168T>A (p.Ala56=)
17g.63837564G>ACA400601688SMARCD2n.166C>T
c.137C>T (p.Ala46Val)
c.95C>T (p.Ala32Val)
c.278C>T (p.Ala93Val)
c.53C>T (p.Ala18Val)
c.134C>T (p.Ala45Val)
n.53-327C>T
c.62C>T (p.Ala21Val)
c.217-327C>T (n.217-327C>T)
c.167C>T (p.Ala56Val)
17g.63837564G>CCA400601689SMARCD2n.166C>G
c.137C>G (p.Ala46Gly)
c.95C>G (p.Ala32Gly)
c.278C>G (p.Ala93Gly)
c.53C>G (p.Ala18Gly)
c.134C>G (p.Ala45Gly)
n.53-327C>G
c.62C>G (p.Ala21Gly)
c.217-327C>G (n.217-327C>G)
c.167C>G (p.Ala56Gly)
17g.63837564G>TCA400601690SMARCD2n.166C>A
c.137C>A (p.Ala46Asp)
c.95C>A (p.Ala32Asp)
c.278C>A (p.Ala93Asp)
c.53C>A (p.Ala18Asp)
c.134C>A (p.Ala45Asp)
n.53-327C>A
c.62C>A (p.Ala21Asp)
c.217-327C>A (n.217-327C>A)
c.167C>A (p.Ala56Asp)
17g.63837565C>ACA400601691SMARCD2n.165G>T
c.136G>T (p.Ala46Ser)
c.94G>T (p.Ala32Ser)
c.277G>T (p.Ala93Ser)
c.52G>T (p.Ala18Ser)
c.133G>T (p.Ala45Ser)
n.53-328G>T
c.61G>T (p.Ala21Ser)
c.217-328G>T (n.217-328G>T)
c.166G>T (p.Ala56Ser)
17g.63837565C=CA2270105594SMARCD2n.165G=
c.136G= (p.Ala46=)
c.94G= (p.Ala32=)
c.277G= (p.Ala93=)
c.52G= (p.Ala18=)
c.133G= (p.Ala45=)
n.53-328G=
c.61G= (p.Ala21=)
c.217-328G= (n.217-328G=)
c.166G= (p.Ala56=)
17g.63837565C>GCA8706536SMARCD2n.165G>C
c.136G>C (p.Ala46Pro)
c.94G>C (p.Ala32Pro)
c.277G>C (p.Ala93Pro)
c.52G>C (p.Ala18Pro)
c.133G>C (p.Ala45Pro)
n.53-328G>C
c.61G>C (p.Ala21Pro)
c.217-328G>C (n.217-328G>C)
c.166G>C (p.Ala56Pro)
dbSNP ExAC gnomAD v4
17g.63837565C>TCA292954824SMARCD2n.165G>A
c.136G>A (p.Ala46Thr)
c.94G>A (p.Ala32Thr)
c.277G>A (p.Ala93Thr)
c.52G>A (p.Ala18Thr)
c.133G>A (p.Ala45Thr)
n.53-328G>A
c.61G>A (p.Ala21Thr)
c.217-328G>A (n.217-328G>A)
c.166G>A (p.Ala56Thr)
dbSNP
17g.63837566A>CCA501202411SMARCD2n.164T>G
c.135T>G (p.Pro45=)
c.93T>G (p.Pro31=)
c.276T>G (p.Pro92=)
c.51T>G (p.Pro17=)
c.132T>G (p.Pro44=)
n.53-329T>G
c.60T>G (p.Pro20=)
c.217-329T>G (n.217-329T>G)
c.165T>G (p.Pro55=)
17g.63837566A>GCA501202412SMARCD2n.164T>C
c.135T>C (p.Pro45=)
c.93T>C (p.Pro31=)
c.276T>C (p.Pro92=)
c.51T>C (p.Pro17=)
c.132T>C (p.Pro44=)
n.53-329T>C
c.60T>C (p.Pro20=)
c.217-329T>C (n.217-329T>C)
c.165T>C (p.Pro55=)
17g.63837566A>TCA501202413SMARCD2n.164T>A
c.135T>A (p.Pro45=)
c.93T>A (p.Pro31=)
c.276T>A (p.Pro92=)
c.51T>A (p.Pro17=)
c.132T>A (p.Pro44=)
n.53-329T>A
c.60T>A (p.Pro20=)
c.217-329T>A (n.217-329T>A)
c.165T>A (p.Pro55=)
17g.63837567G>ACA400601692SMARCD2n.163C>T
c.134C>T (p.Pro45Leu)
c.92C>T (p.Pro31Leu)
c.275C>T (p.Pro92Leu)
c.50C>T (p.Pro17Leu)
c.131C>T (p.Pro44Leu)
n.53-330C>T
c.59C>T (p.Pro20Leu)
c.217-330C>T (n.217-330C>T)
c.164C>T (p.Pro55Leu)
17g.63837567G>CCA400601693SMARCD2n.163C>G
c.134C>G (p.Pro45Arg)
c.92C>G (p.Pro31Arg)
c.275C>G (p.Pro92Arg)
c.50C>G (p.Pro17Arg)
c.131C>G (p.Pro44Arg)
n.53-330C>G
c.59C>G (p.Pro20Arg)
c.217-330C>G (n.217-330C>G)
c.164C>G (p.Pro55Arg)
17g.63837567G>TCA400601694SMARCD2n.163C>A
c.134C>A (p.Pro45His)
c.92C>A (p.Pro31His)
c.275C>A (p.Pro92His)
c.50C>A (p.Pro17His)
c.131C>A (p.Pro44His)
n.53-330C>A
c.59C>A (p.Pro20His)
c.217-330C>A (n.217-330C>A)
c.164C>A (p.Pro55His)
17g.63837571delCA501202414SMARCD2n.163del
c.134del (p.Pro45LeufsTer20)
c.92del (p.Pro31LeufsTer20)
c.275del (p.Pro92LeufsTer20)
c.50del (p.Pro17LeufsTer20)
c.131del (p.Pro44LeufsTer20)
n.53-330del
c.59del (p.Pro20LeufsTer20)
c.217-330del (n.217-330del)
c.164del (p.Pro55LeufsTer20)
gnomAD v4 COSMIC COSMIC COSMIC
17g.63837568G>ACA8706537SMARCD2n.162C>T
c.133C>T (p.Pro45Ser)
c.91C>T (p.Pro31Ser)
c.274C>T (p.Pro92Ser)
c.49C>T (p.Pro17Ser)
c.130C>T (p.Pro44Ser)
n.53-331C>T
c.58C>T (p.Pro20Ser)
c.217-331C>T (n.217-331C>T)
c.163C>T (p.Pro55Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837568G>CCA400601695SMARCD2n.162C>G
c.133C>G (p.Pro45Ala)
c.91C>G (p.Pro31Ala)
c.274C>G (p.Pro92Ala)
c.49C>G (p.Pro17Ala)
c.130C>G (p.Pro44Ala)
n.53-331C>G
c.58C>G (p.Pro20Ala)
c.217-331C>G (n.217-331C>G)
c.163C>G (p.Pro55Ala)
17g.63837568G=CA2270105595SMARCD2n.162C=
c.133C= (p.Pro45=)
c.91C= (p.Pro31=)
c.274C= (p.Pro92=)
c.49C= (p.Pro17=)
c.130C= (p.Pro44=)
n.53-331C=
c.58C= (p.Pro20=)
c.217-331C= (n.217-331C=)
c.163C= (p.Pro55=)
17g.63837568G>TCA400601696SMARCD2n.162C>A
c.133C>A (p.Pro45Thr)
c.91C>A (p.Pro31Thr)
c.274C>A (p.Pro92Thr)
c.49C>A (p.Pro17Thr)
c.130C>A (p.Pro44Thr)
n.53-331C>A
c.58C>A (p.Pro20Thr)
c.217-331C>A (n.217-331C>A)
c.163C>A (p.Pro55Thr)
17g.63837569G>ACA501202418SMARCD2n.161C>T
c.132C>T (p.Pro44=)
c.90C>T (p.Pro30=)
c.273C>T (p.Pro91=)
c.48C>T (p.Pro16=)
c.129C>T (p.Pro43=)
n.53-332C>T
c.57C>T (p.Pro19=)
c.217-332C>T (n.217-332C>T)
c.162C>T (p.Pro54=)
17g.63837569G>CCA501202420SMARCD2n.161C>G
c.132C>G (p.Pro44=)
c.90C>G (p.Pro30=)
c.273C>G (p.Pro91=)
c.48C>G (p.Pro16=)
c.129C>G (p.Pro43=)
n.53-332C>G
c.57C>G (p.Pro19=)
c.217-332C>G (n.217-332C>G)
c.162C>G (p.Pro54=)
dbSNP
17g.63837569G=CA2270105596SMARCD2n.161C=
c.132C= (p.Pro44=)
c.90C= (p.Pro30=)
c.273C= (p.Pro91=)
c.48C= (p.Pro16=)
c.129C= (p.Pro43=)
n.53-332C=
c.57C= (p.Pro19=)
c.217-332C= (n.217-332C=)
c.162C= (p.Pro54=)
17g.63837569G>TCA501202419SMARCD2n.161C>A
c.132C>A (p.Pro44=)
c.90C>A (p.Pro30=)
c.273C>A (p.Pro91=)
c.48C>A (p.Pro16=)
c.129C>A (p.Pro43=)
n.53-332C>A
c.57C>A (p.Pro19=)
c.217-332C>A (n.217-332C>A)
c.162C>A (p.Pro54=)
17g.63837570G>ACA400601697SMARCD2n.160C>T
c.131C>T (p.Pro44Leu)
c.89C>T (p.Pro30Leu)
c.272C>T (p.Pro91Leu)
c.47C>T (p.Pro16Leu)
c.128C>T (p.Pro43Leu)
n.53-333C>T
c.56C>T (p.Pro19Leu)
c.217-333C>T (n.217-333C>T)
c.161C>T (p.Pro54Leu)
17g.63837570G>CCA400601699SMARCD2n.160C>G
c.131C>G (p.Pro44Arg)
c.89C>G (p.Pro30Arg)
c.272C>G (p.Pro91Arg)
c.47C>G (p.Pro16Arg)
c.128C>G (p.Pro43Arg)
n.53-333C>G
c.56C>G (p.Pro19Arg)
c.217-333C>G (n.217-333C>G)
c.161C>G (p.Pro54Arg)
17g.63837570G>TCA400601698SMARCD2n.160C>A
c.131C>A (p.Pro44His)
c.89C>A (p.Pro30His)
c.272C>A (p.Pro91His)
c.47C>A (p.Pro16His)
c.128C>A (p.Pro43His)
n.53-333C>A
c.56C>A (p.Pro19His)
c.217-333C>A (n.217-333C>A)
c.161C>A (p.Pro54His)
17g.63837571G>ACA400601700SMARCD2n.159C>T
c.130C>T (p.Pro44Ser)
c.88C>T (p.Pro30Ser)
c.271C>T (p.Pro91Ser)
c.46C>T (p.Pro16Ser)
c.127C>T (p.Pro43Ser)
n.53-334C>T
c.55C>T (p.Pro19Ser)
c.217-334C>T (n.217-334C>T)
c.160C>T (p.Pro54Ser)
gnomAD v4
17g.63837571G>CCA400601701SMARCD2n.159C>G
c.130C>G (p.Pro44Ala)
c.88C>G (p.Pro30Ala)
c.271C>G (p.Pro91Ala)
c.46C>G (p.Pro16Ala)
c.127C>G (p.Pro43Ala)
n.53-334C>G
c.55C>G (p.Pro19Ala)
c.217-334C>G (n.217-334C>G)
c.160C>G (p.Pro54Ala)
17g.63837571G>TCA400601702SMARCD2n.159C>A
c.130C>A (p.Pro44Thr)
c.88C>A (p.Pro30Thr)
c.271C>A (p.Pro91Thr)
c.46C>A (p.Pro16Thr)
c.127C>A (p.Pro43Thr)
n.53-334C>A
c.55C>A (p.Pro19Thr)
c.217-334C>A (n.217-334C>A)
c.160C>A (p.Pro54Thr)
17g.63837572T>ACA501202424SMARCD2n.158A>T
c.129A>T (p.Gly43=)
c.87A>T (p.Gly29=)
c.270A>T (p.Gly90=)
c.45A>T (p.Gly15=)
c.126A>T (p.Gly42=)
n.53-335A>T
c.54A>T (p.Gly18=)
c.217-335A>T (n.217-335A>T)
c.159A>T (p.Gly53=)
17g.63837572T>CCA501202425SMARCD2n.158A>G
c.129A>G (p.Gly43=)
c.87A>G (p.Gly29=)
c.270A>G (p.Gly90=)
c.45A>G (p.Gly15=)
c.126A>G (p.Gly42=)
n.53-335A>G
c.54A>G (p.Gly18=)
c.217-335A>G (n.217-335A>G)
c.159A>G (p.Gly53=)
17g.63837572T>GCA501202426SMARCD2n.158A>C
c.129A>C (p.Gly43=)
c.87A>C (p.Gly29=)
c.270A>C (p.Gly90=)
c.45A>C (p.Gly15=)
c.126A>C (p.Gly42=)
n.53-335A>C
c.54A>C (p.Gly18=)
c.217-335A>C (n.217-335A>C)
c.159A>C (p.Gly53=)
dbSNP
17g.63837572T=CA2270105597SMARCD2n.158A=
c.129A= (p.Gly43=)
c.87A= (p.Gly29=)
c.270A= (p.Gly90=)
c.45A= (p.Gly15=)
c.126A= (p.Gly42=)
n.53-335A=
c.54A= (p.Gly18=)
c.217-335A= (n.217-335A=)
c.159A= (p.Gly53=)
17g.63837573C>ACA400601703SMARCD2n.157G>T
c.128G>T (p.Gly43Val)
c.86G>T (p.Gly29Val)
c.269G>T (p.Gly90Val)
c.44G>T (p.Gly15Val)
c.125G>T (p.Gly42Val)
n.53-336G>T
c.53G>T (p.Gly18Val)
c.217-336G>T (n.217-336G>T)
c.158G>T (p.Gly53Val)
17g.63837573C>GCA400601704SMARCD2n.157G>C
c.128G>C (p.Gly43Ala)
c.86G>C (p.Gly29Ala)
c.269G>C (p.Gly90Ala)
c.44G>C (p.Gly15Ala)
c.125G>C (p.Gly42Ala)
n.53-336G>C
c.53G>C (p.Gly18Ala)
c.217-336G>C (n.217-336G>C)
c.158G>C (p.Gly53Ala)
17g.63837573C>TCA400601705SMARCD2n.157G>A
c.128G>A (p.Gly43Glu)
c.86G>A (p.Gly29Glu)
c.269G>A (p.Gly90Glu)
c.44G>A (p.Gly15Glu)
c.125G>A (p.Gly42Glu)
n.53-336G>A
c.53G>A (p.Gly18Glu)
c.217-336G>A (n.217-336G>A)
c.158G>A (p.Gly53Glu)
17g.63837574C>ACA400601706SMARCD2n.156G>T
c.127G>T (p.Gly43Ter)
c.85G>T (p.Gly29Ter)
c.268G>T (p.Gly90Ter)
c.43G>T (p.Gly15Ter)
c.124G>T (p.Gly42Ter)
n.53-337G>T
c.52G>T (p.Gly18Ter)
c.217-337G>T (n.217-337G>T)
c.157G>T (p.Gly53Ter)
17g.63837574C>GCA400601707SMARCD2n.156G>C
c.127G>C (p.Gly43Arg)
c.85G>C (p.Gly29Arg)
c.268G>C (p.Gly90Arg)
c.43G>C (p.Gly15Arg)
c.124G>C (p.Gly42Arg)
n.53-337G>C
c.52G>C (p.Gly18Arg)
c.217-337G>C (n.217-337G>C)
c.157G>C (p.Gly53Arg)
17g.63837574C>TCA400601708SMARCD2n.156G>A
c.127G>A (p.Gly43Arg)
c.85G>A (p.Gly29Arg)
c.268G>A (p.Gly90Arg)
c.43G>A (p.Gly15Arg)
c.124G>A (p.Gly42Arg)
n.53-337G>A
c.52G>A (p.Gly18Arg)
c.217-337G>A (n.217-337G>A)
c.157G>A (p.Gly53Arg)
17g.63837575C>ACA501202428SMARCD2n.155G>T
c.126G>T (p.Val42=)
c.84G>T (p.Val28=)
c.267G>T (p.Val89=)
c.42G>T (p.Val14=)
c.123G>T (p.Val41=)
n.53-338G>T
c.51G>T (p.Val17=)
c.217-338G>T (n.217-338G>T)
c.156G>T (p.Val52=)
17g.63837575C>GCA501202429SMARCD2n.155G>C
c.126G>C (p.Val42=)
c.84G>C (p.Val28=)
c.267G>C (p.Val89=)
c.42G>C (p.Val14=)
c.123G>C (p.Val41=)
n.53-338G>C
c.51G>C (p.Val17=)
c.217-338G>C (n.217-338G>C)
c.156G>C (p.Val52=)
17g.63837575C>TCA501202430SMARCD2n.155G>A
c.126G>A (p.Val42=)
c.84G>A (p.Val28=)
c.267G>A (p.Val89=)
c.42G>A (p.Val14=)
c.123G>A (p.Val41=)
n.53-338G>A
c.51G>A (p.Val17=)
c.217-338G>A (n.217-338G>A)
c.156G>A (p.Val52=)
17g.63837576A>CCA400601709SMARCD2n.154T>G
c.125T>G (p.Val42Gly)
c.83T>G (p.Val28Gly)
c.266T>G (p.Val89Gly)
c.41T>G (p.Val14Gly)
c.122T>G (p.Val41Gly)
n.53-339T>G
c.50T>G (p.Val17Gly)
c.217-339T>G (n.217-339T>G)
c.155T>G (p.Val52Gly)
gnomAD v4
17g.63837576A>GCA400601710SMARCD2n.154T>C
c.125T>C (p.Val42Ala)
c.83T>C (p.Val28Ala)
c.266T>C (p.Val89Ala)
c.41T>C (p.Val14Ala)
c.122T>C (p.Val41Ala)
n.53-339T>C
c.50T>C (p.Val17Ala)
c.217-339T>C (n.217-339T>C)
c.155T>C (p.Val52Ala)
17g.63837576A>TCA400601711SMARCD2n.154T>A
c.125T>A (p.Val42Glu)
c.83T>A (p.Val28Glu)
c.266T>A (p.Val89Glu)
c.41T>A (p.Val14Glu)
c.122T>A (p.Val41Glu)
n.53-339T>A
c.50T>A (p.Val17Glu)
c.217-339T>A (n.217-339T>A)
c.155T>A (p.Val52Glu)
17g.63837577C>ACA400601712SMARCD2n.153G>T
c.124G>T (p.Val42Leu)
c.82G>T (p.Val28Leu)
c.265G>T (p.Val89Leu)
c.40G>T (p.Val14Leu)
c.121G>T (p.Val41Leu)
n.53-340G>T
c.49G>T (p.Val17Leu)
c.217-340G>T (n.217-340G>T)
c.154G>T (p.Val52Leu)
17g.63837577C>GCA400601714SMARCD2n.153G>C
c.124G>C (p.Val42Leu)
c.82G>C (p.Val28Leu)
c.265G>C (p.Val89Leu)
c.40G>C (p.Val14Leu)
c.121G>C (p.Val41Leu)
n.53-340G>C
c.49G>C (p.Val17Leu)
c.217-340G>C (n.217-340G>C)
c.154G>C (p.Val52Leu)
17g.63837577C>TCA400601713SMARCD2n.153G>A
c.124G>A (p.Val42Met)
c.82G>A (p.Val28Met)
c.265G>A (p.Val89Met)
c.40G>A (p.Val14Met)
c.121G>A (p.Val41Met)
n.53-340G>A
c.49G>A (p.Val17Met)
c.217-340G>A (n.217-340G>A)
c.154G>A (p.Val52Met)
gnomAD v4
17g.63837578C>ACA400601715SMARCD2n.152G>T
c.123G>T (p.Gln41His)
c.81G>T (p.Gln27His)
c.264G>T (p.Gln88His)
c.39G>T (p.Gln13His)
c.120G>T (p.Gln40His)
n.53-341G>T
c.48G>T (p.Gln16His)
c.217-341G>T (n.217-341G>T)
c.153G>T (p.Gln51His)
17g.63837578C=CA2270105598SMARCD2n.152G=
c.123G= (p.Gln41=)
c.81G= (p.Gln27=)
c.264G= (p.Gln88=)
c.39G= (p.Gln13=)
c.120G= (p.Gln40=)
n.53-341G=
c.48G= (p.Gln16=)
c.217-341G= (n.217-341G=)
c.153G= (p.Gln51=)
17g.63837578C>GCA400601716SMARCD2n.152G>C
c.123G>C (p.Gln41His)
c.81G>C (p.Gln27His)
c.264G>C (p.Gln88His)
c.39G>C (p.Gln13His)
c.120G>C (p.Gln40His)
n.53-341G>C
c.48G>C (p.Gln16His)
c.217-341G>C (n.217-341G>C)
c.153G>C (p.Gln51His)
dbSNP gnomAD v3 gnomAD v4
17g.63837578C>TCA501202434SMARCD2n.152G>A
c.123G>A (p.Gln41=)
c.81G>A (p.Gln27=)
c.264G>A (p.Gln88=)
c.39G>A (p.Gln13=)
c.120G>A (p.Gln40=)
n.53-341G>A
c.48G>A (p.Gln16=)
c.217-341G>A (n.217-341G>A)
c.153G>A (p.Gln51=)
17g.63837579T>ACA400601717SMARCD2n.151A>T
c.122A>T (p.Gln41Leu)
c.80A>T (p.Gln27Leu)
c.263A>T (p.Gln88Leu)
c.38A>T (p.Gln13Leu)
c.119A>T (p.Gln40Leu)
n.53-342A>T
c.47A>T (p.Gln16Leu)
c.217-342A>T (n.217-342A>T)
c.152A>T (p.Gln51Leu)
17g.63837579T>CCA8706538SMARCD2n.151A>G
c.122A>G (p.Gln41Arg)
c.80A>G (p.Gln27Arg)
c.263A>G (p.Gln88Arg)
c.38A>G (p.Gln13Arg)
c.119A>G (p.Gln40Arg)
n.53-342A>G
c.47A>G (p.Gln16Arg)
c.217-342A>G (n.217-342A>G)
c.152A>G (p.Gln51Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837579T>GCA400601718SMARCD2n.151A>C
c.122A>C (p.Gln41Pro)
c.80A>C (p.Gln27Pro)
c.263A>C (p.Gln88Pro)
c.38A>C (p.Gln13Pro)
c.119A>C (p.Gln40Pro)
n.53-342A>C
c.47A>C (p.Gln16Pro)
c.217-342A>C (n.217-342A>C)
c.152A>C (p.Gln51Pro)
17g.63837579T=CA2270105599SMARCD2n.151A=
c.122A= (p.Gln41=)
c.80A= (p.Gln27=)
c.263A= (p.Gln88=)
c.38A= (p.Gln13=)
c.119A= (p.Gln40=)
n.53-342A=
c.47A= (p.Gln16=)
c.217-342A= (n.217-342A=)
c.152A= (p.Gln51=)
17g.63837580G>ACA400601719SMARCD2n.150C>T
c.121C>T (p.Gln41Ter)
c.79C>T (p.Gln27Ter)
c.262C>T (p.Gln88Ter)
c.37C>T (p.Gln13Ter)
c.118C>T (p.Gln40Ter)
n.53-343C>T
c.46C>T (p.Gln16Ter)
c.217-343C>T (n.217-343C>T)
c.151C>T (p.Gln51Ter)
gnomAD v4
17g.63837580G>CCA400601720SMARCD2n.150C>G
c.121C>G (p.Gln41Glu)
c.79C>G (p.Gln27Glu)
c.262C>G (p.Gln88Glu)
c.37C>G (p.Gln13Glu)
c.118C>G (p.Gln40Glu)
n.53-343C>G
c.46C>G (p.Gln16Glu)
c.217-343C>G (n.217-343C>G)
c.151C>G (p.Gln51Glu)
17g.63837580G>TCA400601721SMARCD2n.150C>A
c.121C>A (p.Gln41Lys)
c.79C>A (p.Gln27Lys)
c.262C>A (p.Gln88Lys)
c.37C>A (p.Gln13Lys)
c.118C>A (p.Gln40Lys)
n.53-343C>A
c.46C>A (p.Gln16Lys)
c.217-343C>A (n.217-343C>A)
c.151C>A (p.Gln51Lys)
17g.63837581C>ACA400601722SMARCD2n.149G>T
c.120G>T (p.Leu40Phe)
c.78G>T (p.Leu26Phe)
c.261G>T (p.Leu87Phe)
c.36G>T (p.Leu12Phe)
c.117G>T (p.Leu39Phe)
n.53-344G>T
c.45G>T (p.Leu15Phe)
c.217-344G>T (n.217-344G>T)
c.150G>T (p.Leu50Phe)
17g.63837581C>GCA400601723SMARCD2n.149G>C
c.120G>C (p.Leu40Phe)
c.78G>C (p.Leu26Phe)
c.261G>C (p.Leu87Phe)
c.36G>C (p.Leu12Phe)
c.117G>C (p.Leu39Phe)
n.53-344G>C
c.45G>C (p.Leu15Phe)
c.217-344G>C (n.217-344G>C)
c.150G>C (p.Leu50Phe)
17g.63837581C>TCA501202435SMARCD2n.149G>A
c.120G>A (p.Leu40=)
c.78G>A (p.Leu26=)
c.261G>A (p.Leu87=)
c.36G>A (p.Leu12=)
c.117G>A (p.Leu39=)
n.53-344G>A
c.45G>A (p.Leu15=)
c.217-344G>A (n.217-344G>A)
c.150G>A (p.Leu50=)
17g.63837582A>CCA400601724SMARCD2n.148T>G
c.119T>G (p.Leu40Trp)
c.77T>G (p.Leu26Trp)
c.260T>G (p.Leu87Trp)
c.35T>G (p.Leu12Trp)
c.116T>G (p.Leu39Trp)
n.53-345T>G
c.44T>G (p.Leu15Trp)
c.217-345T>G (n.217-345T>G)
c.149T>G (p.Leu50Trp)
17g.63837582A>GCA400601725SMARCD2n.148T>C
c.119T>C (p.Leu40Ser)
c.77T>C (p.Leu26Ser)
c.260T>C (p.Leu87Ser)
c.35T>C (p.Leu12Ser)
c.116T>C (p.Leu39Ser)
n.53-345T>C
c.44T>C (p.Leu15Ser)
c.217-345T>C (n.217-345T>C)
c.149T>C (p.Leu50Ser)
17g.63837582A>TCA400601726SMARCD2n.148T>A
c.119T>A (p.Leu40Ter)
c.77T>A (p.Leu26Ter)
c.260T>A (p.Leu87Ter)
c.35T>A (p.Leu12Ter)
c.116T>A (p.Leu39Ter)
n.53-345T>A
c.44T>A (p.Leu15Ter)
c.217-345T>A (n.217-345T>A)
c.149T>A (p.Leu50Ter)
17g.63837583A>CCA400601728SMARCD2n.147T>G
c.118T>G (p.Leu40Val)
c.76T>G (p.Leu26Val)
c.259T>G (p.Leu87Val)
c.34T>G (p.Leu12Val)
c.115T>G (p.Leu39Val)
n.53-346T>G
c.43T>G (p.Leu15Val)
c.217-346T>G (n.217-346T>G)
c.148T>G (p.Leu50Val)
17g.63837583A>GCA501202436SMARCD2n.147T>C
c.118T>C (p.Leu40=)
c.76T>C (p.Leu26=)
c.259T>C (p.Leu87=)
c.34T>C (p.Leu12=)
c.115T>C (p.Leu39=)
n.53-346T>C
c.43T>C (p.Leu15=)
c.217-346T>C (n.217-346T>C)
c.148T>C (p.Leu50=)
17g.63837583A>TCA400601727SMARCD2n.147T>A
c.118T>A (p.Leu40Met)
c.76T>A (p.Leu26Met)
c.259T>A (p.Leu87Met)
c.34T>A (p.Leu12Met)
c.115T>A (p.Leu39Met)
n.53-346T>A
c.43T>A (p.Leu15Met)
c.217-346T>A (n.217-346T>A)
c.148T>A (p.Leu50Met)
17g.63837584G>ACA501202437SMARCD2n.146C>T
c.117C>T (p.Gly39=)
c.75C>T (p.Gly25=)
c.258C>T (p.Gly86=)
c.33C>T (p.Gly11=)
c.114C>T (p.Gly38=)
n.53-347C>T
c.42C>T (p.Gly14=)
c.217-347C>T (n.217-347C>T)
c.147C>T (p.Gly49=)
17g.63837584G>CCA501202438SMARCD2n.146C>G
c.117C>G (p.Gly39=)
c.75C>G (p.Gly25=)
c.258C>G (p.Gly86=)
c.33C>G (p.Gly11=)
c.114C>G (p.Gly38=)
n.53-347C>G
c.42C>G (p.Gly14=)
c.217-347C>G (n.217-347C>G)
c.147C>G (p.Gly49=)
17g.63837584G>TCA501202439SMARCD2n.146C>A
c.117C>A (p.Gly39=)
c.75C>A (p.Gly25=)
c.258C>A (p.Gly86=)
c.33C>A (p.Gly11=)
c.114C>A (p.Gly38=)
n.53-347C>A
c.42C>A (p.Gly14=)
c.217-347C>A (n.217-347C>A)
c.147C>A (p.Gly49=)
17g.63837585C>ACA400601729SMARCD2n.145G>T
c.116G>T (p.Gly39Val)
c.74G>T (p.Gly25Val)
c.257G>T (p.Gly86Val)
c.32G>T (p.Gly11Val)
c.113G>T (p.Gly38Val)
n.53-348G>T
c.41G>T (p.Gly14Val)
c.217-348G>T (n.217-348G>T)
c.146G>T (p.Gly49Val)
17g.63837585C=CA2270105600SMARCD2n.145G=
c.116G= (p.Gly39=)
c.74G= (p.Gly25=)
c.257G= (p.Gly86=)
c.32G= (p.Gly11=)
c.113G= (p.Gly38=)
n.53-348G=
c.41G= (p.Gly14=)
c.217-348G= (n.217-348G=)
c.146G= (p.Gly49=)
17g.63837585C>GCA400601730SMARCD2n.145G>C
c.116G>C (p.Gly39Ala)
c.74G>C (p.Gly25Ala)
c.257G>C (p.Gly86Ala)
c.32G>C (p.Gly11Ala)
c.113G>C (p.Gly38Ala)
n.53-348G>C
c.41G>C (p.Gly14Ala)
c.217-348G>C (n.217-348G>C)
c.146G>C (p.Gly49Ala)
dbSNP gnomAD v4
17g.63837585C>TCA8706539SMARCD2n.145G>A
c.116G>A (p.Gly39Asp)
c.74G>A (p.Gly25Asp)
c.257G>A (p.Gly86Asp)
c.32G>A (p.Gly11Asp)
c.113G>A (p.Gly38Asp)
n.53-348G>A
c.41G>A (p.Gly14Asp)
c.217-348G>A (n.217-348G>A)
c.146G>A (p.Gly49Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837586C>ACA400601731SMARCD2n.144G>T
c.115G>T (p.Gly39Cys)
c.73G>T (p.Gly25Cys)
c.256G>T (p.Gly86Cys)
c.31G>T (p.Gly11Cys)
c.112G>T (p.Gly38Cys)
n.53-349G>T
c.40G>T (p.Gly14Cys)
c.217-349G>T (n.217-349G>T)
c.145G>T (p.Gly49Cys)
17g.63837586C=CA2270105601SMARCD2n.144G=
c.115G= (p.Gly39=)
c.73G= (p.Gly25=)
c.256G= (p.Gly86=)
c.31G= (p.Gly11=)
c.112G= (p.Gly38=)
n.53-349G=
c.40G= (p.Gly14=)
c.217-349G= (n.217-349G=)
c.145G= (p.Gly49=)
17g.63837586C>GCA400601732SMARCD2n.144G>C
c.115G>C (p.Gly39Arg)
c.73G>C (p.Gly25Arg)
c.256G>C (p.Gly86Arg)
c.31G>C (p.Gly11Arg)
c.112G>C (p.Gly38Arg)
n.53-349G>C
c.40G>C (p.Gly14Arg)
c.217-349G>C (n.217-349G>C)
c.145G>C (p.Gly49Arg)
17g.63837586C>TCA400601733SMARCD2n.144G>A
c.115G>A (p.Gly39Ser)
c.73G>A (p.Gly25Ser)
c.256G>A (p.Gly86Ser)
c.31G>A (p.Gly11Ser)
c.112G>A (p.Gly38Ser)
n.53-349G>A
c.40G>A (p.Gly14Ser)
c.217-349G>A (n.217-349G>A)
c.145G>A (p.Gly49Ser)
dbSNP gnomAD v4
17g.63837587A>CCA501202440SMARCD2n.143T>G
c.114T>G (p.Ala38=)
c.72T>G (p.Ala24=)
c.255T>G (p.Ala85=)
c.30T>G (p.Ala10=)
c.111T>G (p.Ala37=)
n.53-350T>G
c.39T>G (p.Ala13=)
c.217-350T>G (n.217-350T>G)
c.144T>G (p.Ala48=)
17g.63837587A>GCA501202441SMARCD2n.143T>C
c.114T>C (p.Ala38=)
c.72T>C (p.Ala24=)
c.255T>C (p.Ala85=)
c.30T>C (p.Ala10=)
c.111T>C (p.Ala37=)
n.53-350T>C
c.39T>C (p.Ala13=)
c.217-350T>C (n.217-350T>C)
c.144T>C (p.Ala48=)
17g.63837587A>TCA501202442SMARCD2n.143T>A
c.114T>A (p.Ala38=)
c.72T>A (p.Ala24=)
c.255T>A (p.Ala85=)
c.30T>A (p.Ala10=)
c.111T>A (p.Ala37=)
n.53-350T>A
c.39T>A (p.Ala13=)
c.217-350T>A (n.217-350T>A)
c.144T>A (p.Ala48=)
17g.63837588G>ACA400601734SMARCD2n.142C>T
c.113C>T (p.Ala38Val)
c.71C>T (p.Ala24Val)
c.254C>T (p.Ala85Val)
c.29C>T (p.Ala10Val)
c.110C>T (p.Ala37Val)
n.53-351C>T
c.38C>T (p.Ala13Val)
c.217-351C>T (n.217-351C>T)
c.143C>T (p.Ala48Val)
gnomAD v4
17g.63837588G>CCA400601735SMARCD2n.142C>G
c.113C>G (p.Ala38Gly)
c.71C>G (p.Ala24Gly)
c.254C>G (p.Ala85Gly)
c.29C>G (p.Ala10Gly)
c.110C>G (p.Ala37Gly)
n.53-351C>G
c.38C>G (p.Ala13Gly)
c.217-351C>G (n.217-351C>G)
c.143C>G (p.Ala48Gly)
17g.63837588G>TCA400601736SMARCD2n.142C>A
c.113C>A (p.Ala38Asp)
c.71C>A (p.Ala24Asp)
c.254C>A (p.Ala85Asp)
c.29C>A (p.Ala10Asp)
c.110C>A (p.Ala37Asp)
n.53-351C>A
c.38C>A (p.Ala13Asp)
c.217-351C>A (n.217-351C>A)
c.143C>A (p.Ala48Asp)
17g.63837589C>ACA400601737SMARCD2n.141G>T
c.112G>T (p.Ala38Ser)
c.70G>T (p.Ala24Ser)
c.253G>T (p.Ala85Ser)
c.28G>T (p.Ala10Ser)
c.109G>T (p.Ala37Ser)
n.53-352G>T
c.37G>T (p.Ala13Ser)
c.217-352G>T (n.217-352G>T)
c.142G>T (p.Ala48Ser)
17g.63837589C>GCA400601738SMARCD2n.141G>C
c.112G>C (p.Ala38Pro)
c.70G>C (p.Ala24Pro)
c.253G>C (p.Ala85Pro)
c.28G>C (p.Ala10Pro)
c.109G>C (p.Ala37Pro)
n.53-352G>C
c.37G>C (p.Ala13Pro)
c.217-352G>C (n.217-352G>C)
c.142G>C (p.Ala48Pro)
17g.63837589C>TCA400601739SMARCD2n.141G>A
c.112G>A (p.Ala38Thr)
c.70G>A (p.Ala24Thr)
c.253G>A (p.Ala85Thr)
c.28G>A (p.Ala10Thr)
c.109G>A (p.Ala37Thr)
n.53-352G>A
c.37G>A (p.Ala13Thr)
c.217-352G>A (n.217-352G>A)
c.142G>A (p.Ala48Thr)
17g.63837590C>ACA400601740SMARCD2n.140G>T
c.111G>T (p.Met37Ile)
c.69G>T (p.Met23Ile)
c.252G>T (p.Met84Ile)
c.27G>T (p.Met9Ile)
c.108G>T (p.Met36Ile)
n.53-353G>T
c.36G>T (p.Met12Ile)
c.217-353G>T (n.217-353G>T)
c.141G>T (p.Met47Ile)
17g.63837590C>GCA400601742SMARCD2n.140G>C
c.111G>C (p.Met37Ile)
c.69G>C (p.Met23Ile)
c.252G>C (p.Met84Ile)
c.27G>C (p.Met9Ile)
c.108G>C (p.Met36Ile)
n.53-353G>C
c.36G>C (p.Met12Ile)
c.217-353G>C (n.217-353G>C)
c.141G>C (p.Met47Ile)
17g.63837590C>TCA400601741SMARCD2n.140G>A
c.111G>A (p.Met37Ile)
c.69G>A (p.Met23Ile)
c.252G>A (p.Met84Ile)
c.27G>A (p.Met9Ile)
c.108G>A (p.Met36Ile)
n.53-353G>A
c.36G>A (p.Met12Ile)
c.217-353G>A (n.217-353G>A)
c.141G>A (p.Met47Ile)
ClinVar
17g.63837591A>CCA400601743SMARCD2n.139T>G
c.110T>G (p.Met37Arg)
c.68T>G (p.Met23Arg)
c.251T>G (p.Met84Arg)
c.26T>G (p.Met9Arg)
c.107T>G (p.Met36Arg)
n.53-354T>G
c.35T>G (p.Met12Arg)
c.217-354T>G (n.217-354T>G)
c.140T>G (p.Met47Arg)
17g.63837591A>GCA400601745SMARCD2n.139T>C
c.110T>C (p.Met37Thr)
c.68T>C (p.Met23Thr)
c.251T>C (p.Met84Thr)
c.26T>C (p.Met9Thr)
c.107T>C (p.Met36Thr)
n.53-354T>C
c.35T>C (p.Met12Thr)
c.217-354T>C (n.217-354T>C)
c.140T>C (p.Met47Thr)
gnomAD v4
17g.63837591A>TCA400601744SMARCD2n.139T>A
c.110T>A (p.Met37Lys)
c.68T>A (p.Met23Lys)
c.251T>A (p.Met84Lys)
c.26T>A (p.Met9Lys)
c.107T>A (p.Met36Lys)
n.53-354T>A
c.35T>A (p.Met12Lys)
c.217-354T>A (n.217-354T>A)
c.140T>A (p.Met47Lys)
gnomAD v4
17g.63837592T>ACA400601746SMARCD2n.138A>T
c.109A>T (p.Met37Leu)
c.67A>T (p.Met23Leu)
c.250A>T (p.Met84Leu)
c.25A>T (p.Met9Leu)
c.106A>T (p.Met36Leu)
n.53-355A>T
c.34A>T (p.Met12Leu)
c.217-355A>T (n.217-355A>T)
c.139A>T (p.Met47Leu)
17g.63837592T>CCA292954848SMARCD2n.138A>G
c.109A>G (p.Met37Val)
c.67A>G (p.Met23Val)
c.250A>G (p.Met84Val)
c.25A>G (p.Met9Val)
c.106A>G (p.Met36Val)
n.53-355A>G
c.34A>G (p.Met12Val)
c.217-355A>G (n.217-355A>G)
c.139A>G (p.Met47Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.63837592T>GCA400601747SMARCD2n.138A>C
c.109A>C (p.Met37Leu)
c.67A>C (p.Met23Leu)
c.250A>C (p.Met84Leu)
c.25A>C (p.Met9Leu)
c.106A>C (p.Met36Leu)
n.53-355A>C
c.34A>C (p.Met12Leu)
c.217-355A>C (n.217-355A>C)
c.139A>C (p.Met47Leu)
17g.63837592T=CA2270105602SMARCD2n.138A=
c.109A= (p.Met37=)
c.67A= (p.Met23=)
c.250A= (p.Met84=)
c.25A= (p.Met9=)
c.106A= (p.Met36=)
n.53-355A=
c.34A= (p.Met12=)
c.217-355A= (n.217-355A=)
c.139A= (p.Met47=)
17g.63837593G>ACA501202459SMARCD2n.137C>T
c.108C>T (p.Pro36=)
c.66C>T (p.Pro22=)
c.249C>T (p.Pro83=)
c.24C>T (p.Pro8=)
c.105C>T (p.Pro35=)
n.53-356C>T
c.33C>T (p.Pro11=)
c.217-356C>T (n.217-356C>T)
c.138C>T (p.Pro46=)
dbSNP gnomAD v2 gnomAD v4
17g.63837593G>CCA501202461SMARCD2n.137C>G
c.108C>G (p.Pro36=)
c.66C>G (p.Pro22=)
c.249C>G (p.Pro83=)
c.24C>G (p.Pro8=)
c.105C>G (p.Pro35=)
n.53-356C>G
c.33C>G (p.Pro11=)
c.217-356C>G (n.217-356C>G)
c.138C>G (p.Pro46=)
17g.63837593G=CA2270105603SMARCD2n.137C=
c.108C= (p.Pro36=)
c.66C= (p.Pro22=)
c.249C= (p.Pro83=)
c.24C= (p.Pro8=)
c.105C= (p.Pro35=)
n.53-356C=
c.33C= (p.Pro11=)
c.217-356C= (n.217-356C=)
c.138C= (p.Pro46=)
17g.63837593G>TCA501202462SMARCD2n.137C>A
c.108C>A (p.Pro36=)
c.66C>A (p.Pro22=)
c.249C>A (p.Pro83=)
c.24C>A (p.Pro8=)
c.105C>A (p.Pro35=)
n.53-356C>A
c.33C>A (p.Pro11=)
c.217-356C>A (n.217-356C>A)
c.138C>A (p.Pro46=)
17g.63837594G>ACA8706540SMARCD2n.136C>T
c.107C>T (p.Pro36Leu)
c.65C>T (p.Pro22Leu)
c.248C>T (p.Pro83Leu)
c.23C>T (p.Pro8Leu)
c.104C>T (p.Pro35Leu)
n.53-357C>T
c.32C>T (p.Pro11Leu)
c.217-357C>T (n.217-357C>T)
c.137C>T (p.Pro46Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.63837594G>CCA400601749SMARCD2n.136C>G
c.107C>G (p.Pro36Arg)
c.65C>G (p.Pro22Arg)
c.248C>G (p.Pro83Arg)
c.23C>G (p.Pro8Arg)
c.104C>G (p.Pro35Arg)
n.53-357C>G
c.32C>G (p.Pro11Arg)
c.217-357C>G (n.217-357C>G)
c.137C>G (p.Pro46Arg)
17g.63837594G=CA2270105604SMARCD2n.136C=
c.107C= (p.Pro36=)
c.65C= (p.Pro22=)
c.248C= (p.Pro83=)
c.23C= (p.Pro8=)
c.104C= (p.Pro35=)
n.53-357C=
c.32C= (p.Pro11=)
c.217-357C= (n.217-357C=)
c.137C= (p.Pro46=)
17g.63837594G>TCA400601748SMARCD2n.136C>A
c.107C>A (p.Pro36His)
c.65C>A (p.Pro22His)
c.248C>A (p.Pro83His)
c.23C>A (p.Pro8His)
c.104C>A (p.Pro35His)
n.53-357C>A
c.32C>A (p.Pro11His)
c.217-357C>A (n.217-357C>A)
c.137C>A (p.Pro46His)
17g.63837595G>ACA400601750SMARCD2n.135C>T
c.106C>T (p.Pro36Ser)
c.64C>T (p.Pro22Ser)
c.247C>T (p.Pro83Ser)
c.22C>T (p.Pro8Ser)
c.103C>T (p.Pro35Ser)
n.53-358C>T
c.31C>T (p.Pro11Ser)
c.217-358C>T (n.217-358C>T)
c.136C>T (p.Pro46Ser)
gnomAD v4
17g.63837595G>CCA400601751SMARCD2n.135C>G
c.106C>G (p.Pro36Ala)
c.64C>G (p.Pro22Ala)
c.247C>G (p.Pro83Ala)
c.22C>G (p.Pro8Ala)
c.103C>G (p.Pro35Ala)
n.53-358C>G
c.31C>G (p.Pro11Ala)
c.217-358C>G (n.217-358C>G)
c.136C>G (p.Pro46Ala)
17g.63837595G>TCA400601752SMARCD2n.135C>A
c.106C>A (p.Pro36Thr)
c.64C>A (p.Pro22Thr)
c.247C>A (p.Pro83Thr)
c.22C>A (p.Pro8Thr)
c.103C>A (p.Pro35Thr)
n.53-358C>A
c.31C>A (p.Pro11Thr)
c.217-358C>A (n.217-358C>A)
c.136C>A (p.Pro46Thr)
17g.63837596C>ACA400601753SMARCD2n.134G>T
c.105G>T (p.Met35Ile)
c.63G>T (p.Met21Ile)
c.246G>T (p.Met82Ile)
c.21G>T (p.Met7Ile)
c.102G>T (p.Met34Ile)
n.53-359G>T
c.30G>T (p.Met10Ile)
c.217-359G>T (n.217-359G>T)
c.135G>T (p.Met45Ile)
dbSNP gnomAD v4
17g.63837596C=CA2270105605SMARCD2n.134G=
c.105G= (p.Met35=)
c.63G= (p.Met21=)
c.246G= (p.Met82=)
c.21G= (p.Met7=)
c.102G= (p.Met34=)
n.53-359G=
c.30G= (p.Met10=)
c.217-359G= (n.217-359G=)
c.135G= (p.Met45=)
17g.63837596C>GCA400601754SMARCD2n.134G>C
c.105G>C (p.Met35Ile)
c.63G>C (p.Met21Ile)
c.246G>C (p.Met82Ile)
c.21G>C (p.Met7Ile)
c.102G>C (p.Met34Ile)
n.53-359G>C
c.30G>C (p.Met10Ile)
c.217-359G>C (n.217-359G>C)
c.135G>C (p.Met45Ile)
gnomAD v4
17g.63837596C>TCA400601755SMARCD2n.134G>A
c.105G>A (p.Met35Ile)
c.63G>A (p.Met21Ile)
c.246G>A (p.Met82Ile)
c.21G>A (p.Met7Ile)
c.102G>A (p.Met34Ile)
n.53-359G>A
c.30G>A (p.Met10Ile)
c.217-359G>A (n.217-359G>A)
c.135G>A (p.Met45Ile)
dbSNP gnomAD v4
17g.63837597A>CCA400601756SMARCD2n.133T>G
c.104T>G (p.Met35Arg)
c.62T>G (p.Met21Arg)
c.245T>G (p.Met82Arg)
c.20T>G (p.Met7Arg)
c.101T>G (p.Met34Arg)
n.53-360T>G
c.29T>G (p.Met10Arg)
c.217-360T>G (n.217-360T>G)
c.134T>G (p.Met45Arg)
17g.63837597A>GCA400601757SMARCD2n.133T>C
c.104T>C (p.Met35Thr)
c.62T>C (p.Met21Thr)
c.245T>C (p.Met82Thr)
c.20T>C (p.Met7Thr)
c.101T>C (p.Met34Thr)
n.53-360T>C
c.29T>C (p.Met10Thr)
c.217-360T>C (n.217-360T>C)
c.134T>C (p.Met45Thr)
gnomAD v4
17g.63837597A>TCA400601758SMARCD2n.133T>A
c.104T>A (p.Met35Lys)
c.62T>A (p.Met21Lys)
c.245T>A (p.Met82Lys)
c.20T>A (p.Met7Lys)
c.101T>A (p.Met34Lys)
n.53-360T>A
c.29T>A (p.Met10Lys)
c.217-360T>A (n.217-360T>A)
c.134T>A (p.Met45Lys)
17g.63837598T>ACA400601759SMARCD2n.132A>T
c.103A>T (p.Met35Leu)
c.61A>T (p.Met21Leu)
c.244A>T (p.Met82Leu)
c.19A>T (p.Met7Leu)
c.100A>T (p.Met34Leu)
n.53-361A>T
c.28A>T (p.Met10Leu)
c.217-361A>T (n.217-361A>T)
c.133A>T (p.Met45Leu)
17g.63837598T>CCA400601760SMARCD2n.132A>G
c.103A>G (p.Met35Val)
c.61A>G (p.Met21Val)
c.244A>G (p.Met82Val)
c.19A>G (p.Met7Val)
c.100A>G (p.Met34Val)
n.53-361A>G
c.28A>G (p.Met10Val)
c.217-361A>G (n.217-361A>G)
c.133A>G (p.Met45Val)
17g.63837598T>GCA400601761SMARCD2n.132A>C
c.103A>C (p.Met35Leu)
c.61A>C (p.Met21Leu)
c.244A>C (p.Met82Leu)
c.19A>C (p.Met7Leu)
c.100A>C (p.Met34Leu)
n.53-361A>C
c.28A>C (p.Met10Leu)
c.217-361A>C (n.217-361A>C)
c.133A>C (p.Met45Leu)
17g.63837599C>ACA501202463SMARCD2n.131G>T
c.102G>T (p.Arg34=)
c.60G>T (p.Arg20=)
c.243G>T (p.Arg81=)
c.18G>T (p.Arg6=)
c.99G>T (p.Arg33=)
n.53-362G>T
c.27G>T (p.Arg9=)
c.217-362G>T (n.217-362G>T)
c.132G>T (p.Arg44=)
17g.63837599C>GCA501202464SMARCD2n.131G>C
c.102G>C (p.Arg34=)
c.60G>C (p.Arg20=)
c.243G>C (p.Arg81=)
c.18G>C (p.Arg6=)
c.99G>C (p.Arg33=)
n.53-362G>C
c.27G>C (p.Arg9=)
c.217-362G>C (n.217-362G>C)
c.132G>C (p.Arg44=)
17g.63837599C>TCA501202465SMARCD2n.131G>A
c.102G>A (p.Arg34=)
c.60G>A (p.Arg20=)
c.243G>A (p.Arg81=)
c.18G>A (p.Arg6=)
c.99G>A (p.Arg33=)
n.53-362G>A
c.27G>A (p.Arg9=)
c.217-362G>A (n.217-362G>A)
c.132G>A (p.Arg44=)
17g.63837600C>ACA400601763SMARCD2n.130G>T
c.101G>T (p.Arg34Leu)
c.59G>T (p.Arg20Leu)
c.242G>T (p.Arg81Leu)
c.17G>T (p.Arg6Leu)
c.98G>T (p.Arg33Leu)
n.53-363G>T
c.26G>T (p.Arg9Leu)
c.217-363G>T (n.217-363G>T)
c.131G>T (p.Arg44Leu)
17g.63837600C=CA2270105606SMARCD2n.130G=
c.101G= (p.Arg34=)
c.59G= (p.Arg20=)
c.242G= (p.Arg81=)
c.17G= (p.Arg6=)
c.98G= (p.Arg33=)
n.53-363G=
c.26G= (p.Arg9=)
c.217-363G= (n.217-363G=)
c.131G= (p.Arg44=)
17g.63837600C>GCA400601762SMARCD2n.130G>C
c.101G>C (p.Arg34Pro)
c.59G>C (p.Arg20Pro)
c.242G>C (p.Arg81Pro)
c.17G>C (p.Arg6Pro)
c.98G>C (p.Arg33Pro)
n.53-363G>C
c.26G>C (p.Arg9Pro)
c.217-363G>C (n.217-363G>C)
c.131G>C (p.Arg44Pro)
17g.63837600C>TCA8706541SMARCD2n.130G>A
c.101G>A (p.Arg34Gln)
c.59G>A (p.Arg20Gln)
c.242G>A (p.Arg81Gln)
c.17G>A (p.Arg6Gln)
c.98G>A (p.Arg33Gln)
n.53-363G>A
c.26G>A (p.Arg9Gln)
c.217-363G>A (n.217-363G>A)
c.131G>A (p.Arg44Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.63837601G>ACA400601764SMARCD2n.129C>T
c.100C>T (p.Arg34Trp)
c.58C>T (p.Arg20Trp)
c.241C>T (p.Arg81Trp)
c.16C>T (p.Arg6Trp)
c.97C>T (p.Arg33Trp)
n.53-364C>T
c.25C>T (p.Arg9Trp)
c.217-364C>T (n.217-364C>T)
c.130C>T (p.Arg44Trp)
dbSNP gnomAD v4
17g.63837601G>CCA400601765SMARCD2n.129C>G
c.100C>G (p.Arg34Gly)
c.58C>G (p.Arg20Gly)
c.241C>G (p.Arg81Gly)
c.16C>G (p.Arg6Gly)
c.97C>G (p.Arg33Gly)
n.53-364C>G
c.25C>G (p.Arg9Gly)
c.217-364C>G (n.217-364C>G)
c.130C>G (p.Arg44Gly)
17g.63837601G=CA2270105607SMARCD2n.129C=
c.100C= (p.Arg34=)
c.58C= (p.Arg20=)
c.241C= (p.Arg81=)
c.16C= (p.Arg6=)
c.97C= (p.Arg33=)
n.53-364C=
c.25C= (p.Arg9=)
c.217-364C= (n.217-364C=)
c.130C= (p.Arg44=)
17g.63837601G>TCA501202466SMARCD2n.129C>A
c.100C>A (p.Arg34=)
c.58C>A (p.Arg20=)
c.241C>A (p.Arg81=)
c.16C>A (p.Arg6=)
c.97C>A (p.Arg33=)
n.53-364C>A
c.25C>A (p.Arg9=)
c.217-364C>A (n.217-364C>A)
c.130C>A (p.Arg44=)
17g.63837602G>ACA501202467SMARCD2n.128C>T
c.99C>T (p.Asn33=)
c.57C>T (p.Asn19=)
c.240C>T (p.Asn80=)
c.15C>T (p.Asn5=)
c.96C>T (p.Asn32=)
n.53-365C>T
c.24C>T (p.Asn8=)
c.217-365C>T (n.217-365C>T)
c.129C>T (p.Asn43=)
17g.63837602G>CCA400601766SMARCD2n.128C>G
c.99C>G (p.Asn33Lys)
c.57C>G (p.Asn19Lys)
c.240C>G (p.Asn80Lys)
c.15C>G (p.Asn5Lys)
c.96C>G (p.Asn32Lys)
n.53-365C>G
c.24C>G (p.Asn8Lys)
c.217-365C>G (n.217-365C>G)
c.129C>G (p.Asn43Lys)
17g.63837602G>TCA400601767SMARCD2n.128C>A
c.99C>A (p.Asn33Lys)
c.57C>A (p.Asn19Lys)
c.240C>A (p.Asn80Lys)
c.15C>A (p.Asn5Lys)
c.96C>A (p.Asn32Lys)
n.53-365C>A
c.24C>A (p.Asn8Lys)
c.217-365C>A (n.217-365C>A)
c.129C>A (p.Asn43Lys)
17g.63837603T>ACA400601768SMARCD2n.127A>T
c.98A>T (p.Asn33Ile)
c.56A>T (p.Asn19Ile)
c.239A>T (p.Asn80Ile)
c.14A>T (p.Asn5Ile)
c.95A>T (p.Asn32Ile)
n.53-366A>T
c.23A>T (p.Asn8Ile)
c.217-366A>T (n.217-366A>T)
c.128A>T (p.Asn43Ile)
17g.63837603T>CCA400601769SMARCD2n.127A>G
c.98A>G (p.Asn33Ser)
c.56A>G (p.Asn19Ser)
c.239A>G (p.Asn80Ser)
c.14A>G (p.Asn5Ser)
c.95A>G (p.Asn32Ser)
n.53-366A>G
c.23A>G (p.Asn8Ser)
c.217-366A>G (n.217-366A>G)
c.128A>G (p.Asn43Ser)
17g.63837603T>GCA400601770SMARCD2n.127A>C
c.98A>C (p.Asn33Thr)
c.56A>C (p.Asn19Thr)
c.239A>C (p.Asn80Thr)
c.14A>C (p.Asn5Thr)
c.95A>C (p.Asn32Thr)
n.53-366A>C
c.23A>C (p.Asn8Thr)
c.217-366A>C (n.217-366A>C)
c.128A>C (p.Asn43Thr)
17g.63837604T>ACA400601771SMARCD2n.126A>T
c.97A>T (p.Asn33Tyr)
c.55A>T (p.Asn19Tyr)
c.238A>T (p.Asn80Tyr)
c.13A>T (p.Asn5Tyr)
c.94A>T (p.Asn32Tyr)
n.53-367A>T
c.22A>T (p.Asn8Tyr)
c.217-367A>T (n.217-367A>T)
c.127A>T (p.Asn43Tyr)
17g.63837604T>CCA400601772SMARCD2n.126A>G
c.97A>G (p.Asn33Asp)
c.55A>G (p.Asn19Asp)
c.238A>G (p.Asn80Asp)
c.13A>G (p.Asn5Asp)
c.94A>G (p.Asn32Asp)
n.53-367A>G
c.22A>G (p.Asn8Asp)
c.217-367A>G (n.217-367A>G)
c.127A>G (p.Asn43Asp)
17g.63837604T>GCA400601773SMARCD2n.126A>C
c.97A>C (p.Asn33His)
c.55A>C (p.Asn19His)
c.238A>C (p.Asn80His)
c.13A>C (p.Asn5His)
c.94A>C (p.Asn32His)
n.53-367A>C
c.22A>C (p.Asn8His)
c.217-367A>C (n.217-367A>C)
c.127A>C (p.Asn43His)
17g.63837605C>ACA501202469SMARCD2n.125G>T
c.96G>T (p.Gly32=)
c.54G>T (p.Gly18=)
c.237G>T (p.Gly79=)
c.12G>T (p.Gly4=)
c.93G>T (p.Gly31=)
n.53-368G>T
c.21G>T (p.Gly7=)
c.217-368G>T (n.217-368G>T)
c.126G>T (p.Gly42=)
17g.63837605C=CA2270105608SMARCD2n.125G=
c.96G= (p.Gly32=)
c.54G= (p.Gly18=)
c.237G= (p.Gly79=)
c.12G= (p.Gly4=)
c.93G= (p.Gly31=)
n.53-368G=
c.21G= (p.Gly7=)
c.217-368G= (n.217-368G=)
c.126G= (p.Gly42=)
17g.63837605C>GCA501202470SMARCD2n.125G>C
c.96G>C (p.Gly32=)
c.54G>C (p.Gly18=)
c.237G>C (p.Gly79=)
c.12G>C (p.Gly4=)
c.93G>C (p.Gly31=)
n.53-368G>C
c.21G>C (p.Gly7=)
c.217-368G>C (n.217-368G>C)
c.126G>C (p.Gly42=)
17g.63837605C>TCA501202471SMARCD2n.125G>A
c.96G>A (p.Gly32=)
c.54G>A (p.Gly18=)
c.237G>A (p.Gly79=)
c.12G>A (p.Gly4=)
c.93G>A (p.Gly31=)
n.53-368G>A
c.21G>A (p.Gly7=)
c.217-368G>A (n.217-368G>A)
c.126G>A (p.Gly42=)
dbSNP gnomAD v4
17g.63837606C>ACA400601775SMARCD2n.124G>T
c.95G>T (p.Gly32Val)
c.53G>T (p.Gly18Val)
c.236G>T (p.Gly79Val)
c.11G>T (p.Gly4Val)
c.92G>T (p.Gly31Val)
n.53-369G>T
c.20G>T (p.Gly7Val)
c.217-369G>T (n.217-369G>T)
c.125G>T (p.Gly42Val)
17g.63837606C=CA2270105609SMARCD2n.124G=
c.95G= (p.Gly32=)
c.53G= (p.Gly18=)
c.236G= (p.Gly79=)
c.11G= (p.Gly4=)
c.92G= (p.Gly31=)
n.53-369G=
c.20G= (p.Gly7=)
c.217-369G= (n.217-369G=)
c.125G= (p.Gly42=)
17g.63837606C>GCA400601774SMARCD2n.124G>C
c.95G>C (p.Gly32Ala)
c.53G>C (p.Gly18Ala)
c.236G>C (p.Gly79Ala)
c.11G>C (p.Gly4Ala)
c.92G>C (p.Gly31Ala)
n.53-369G>C
c.20G>C (p.Gly7Ala)
c.217-369G>C (n.217-369G>C)
c.125G>C (p.Gly42Ala)
17g.63837606C>TCA8706542SMARCD2n.124G>A
c.95G>A (p.Gly32Glu)
c.53G>A (p.Gly18Glu)
c.236G>A (p.Gly79Glu)
c.11G>A (p.Gly4Glu)
c.92G>A (p.Gly31Glu)
n.53-369G>A
c.20G>A (p.Gly7Glu)
c.217-369G>A (n.217-369G>A)
c.125G>A (p.Gly42Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.63837607C>ACA400601776SMARCD2n.123G>T
c.94G>T (p.Gly32Trp)
c.52G>T (p.Gly18Trp)
c.235G>T (p.Gly79Trp)
c.10G>T (p.Gly4Trp)
c.91G>T (p.Gly31Trp)
n.53-370G>T
c.19G>T (p.Gly7Trp)
c.217-370G>T (n.217-370G>T)
c.124G>T (p.Gly42Trp)
17g.63837607C>GCA400601777SMARCD2n.123G>C
c.94G>C (p.Gly32Arg)
c.52G>C (p.Gly18Arg)
c.235G>C (p.Gly79Arg)
c.10G>C (p.Gly4Arg)
c.91G>C (p.Gly31Arg)
n.53-370G>C
c.19G>C (p.Gly7Arg)
c.217-370G>C (n.217-370G>C)
c.124G>C (p.Gly42Arg)
17g.63837607C>TCA400601778SMARCD2n.123G>A
c.94G>A (p.Gly32Arg)
c.52G>A (p.Gly18Arg)
c.235G>A (p.Gly79Arg)
c.10G>A (p.Gly4Arg)
c.91G>A (p.Gly31Arg)
n.53-370G>A
c.19G>A (p.Gly7Arg)
c.217-370G>A (n.217-370G>A)
c.124G>A (p.Gly42Arg)
ClinVar dbSNP
17g.63837608T>ACA501202472SMARCD2n.122A>T
c.93A>T (p.Pro31=)
c.51A>T (p.Pro17=)
c.234A>T (p.Pro78=)
c.9A>T (p.Pro3=)
c.90A>T (p.Pro30=)
n.53-371A>T
c.18A>T (p.Pro6=)
c.217-371A>T (n.217-371A>T)
c.123A>T (p.Pro41=)
17g.63837608T>CCA501202474SMARCD2n.122A>G
c.93A>G (p.Pro31=)
c.51A>G (p.Pro17=)
c.234A>G (p.Pro78=)
c.9A>G (p.Pro3=)
c.90A>G (p.Pro30=)
n.53-371A>G
c.18A>G (p.Pro6=)
c.217-371A>G (n.217-371A>G)
c.123A>G (p.Pro41=)
17g.63837608T>GCA501202473SMARCD2n.122A>C
c.93A>C (p.Pro31=)
c.51A>C (p.Pro17=)
c.234A>C (p.Pro78=)
c.9A>C (p.Pro3=)
c.90A>C (p.Pro30=)
n.53-371A>C
c.18A>C (p.Pro6=)
c.217-371A>C (n.217-371A>C)
c.123A>C (p.Pro41=)
17g.63837609G>ACA400601779SMARCD2n.121C>T
c.92C>T (p.Pro31Leu)
c.50C>T (p.Pro17Leu)
c.233C>T (p.Pro78Leu)
c.8C>T (p.Pro3Leu)
c.89C>T (p.Pro30Leu)
n.53-372C>T
c.17C>T (p.Pro6Leu)
c.217-372C>T (n.217-372C>T)
c.122C>T (p.Pro41Leu)
17g.63837609G>CCA400601780SMARCD2n.121C>G
c.92C>G (p.Pro31Arg)
c.50C>G (p.Pro17Arg)
c.233C>G (p.Pro78Arg)
c.8C>G (p.Pro3Arg)
c.89C>G (p.Pro30Arg)
n.53-372C>G
c.17C>G (p.Pro6Arg)
c.217-372C>G (n.217-372C>G)
c.122C>G (p.Pro41Arg)
17g.63837609G>TCA400601781SMARCD2n.121C>A
c.92C>A (p.Pro31Gln)
c.50C>A (p.Pro17Gln)
c.233C>A (p.Pro78Gln)
c.8C>A (p.Pro3Gln)
c.89C>A (p.Pro30Gln)
n.53-372C>A
c.17C>A (p.Pro6Gln)
c.217-372C>A (n.217-372C>A)
c.122C>A (p.Pro41Gln)
17g.63837610G>ACA400601782SMARCD2n.120C>T
c.91C>T (p.Pro31Ser)
c.49C>T (p.Pro17Ser)
c.232C>T (p.Pro78Ser)
c.7C>T (p.Pro3Ser)
c.88C>T (p.Pro30Ser)
n.53-373C>T
c.16C>T (p.Pro6Ser)
c.217-373C>T (n.217-373C>T)
c.121C>T (p.Pro41Ser)
17g.63837610G>CCA400601783SMARCD2n.120C>G
c.91C>G (p.Pro31Ala)
c.49C>G (p.Pro17Ala)
c.232C>G (p.Pro78Ala)
c.7C>G (p.Pro3Ala)
c.88C>G (p.Pro30Ala)
n.53-373C>G
c.16C>G (p.Pro6Ala)
c.217-373C>G (n.217-373C>G)
c.121C>G (p.Pro41Ala)
dbSNP
17g.63837610G=CA2270105610SMARCD2n.120C=
c.91C= (p.Pro31=)
c.49C= (p.Pro17=)
c.232C= (p.Pro78=)
c.7C= (p.Pro3=)
c.88C= (p.Pro30=)
n.53-373C=
c.16C= (p.Pro6=)
c.217-373C= (n.217-373C=)
c.121C= (p.Pro41=)
17g.63837610G>TCA400601784SMARCD2n.120C>A
c.91C>A (p.Pro31Thr)
c.49C>A (p.Pro17Thr)
c.232C>A (p.Pro78Thr)
c.7C>A (p.Pro3Thr)
c.88C>A (p.Pro30Thr)
n.53-373C>A
c.16C>A (p.Pro6Thr)
c.217-373C>A (n.217-373C>A)
c.121C>A (p.Pro41Thr)
17g.63837611T>ACA501202476SMARCD2n.119A>T
c.90A>T (p.Ser30=)
c.48A>T (p.Ser16=)
c.231A>T (p.Ser77=)
c.6A>T (p.Ser2=)
c.87A>T (p.Ser29=)
n.53-374A>T
c.15A>T (p.Ser5=)
c.217-374A>T (n.217-374A>T)
c.120A>T (p.Ser40=)
17g.63837611T>CCA501202477SMARCD2n.119A>G
c.90A>G (p.Ser30=)
c.48A>G (p.Ser16=)
c.231A>G (p.Ser77=)
c.6A>G (p.Ser2=)
c.87A>G (p.Ser29=)
n.53-374A>G
c.15A>G (p.Ser5=)
c.217-374A>G (n.217-374A>G)
c.120A>G (p.Ser40=)
17g.63837611T>GCA501202478SMARCD2n.119A>C
c.90A>C (p.Ser30=)
c.48A>C (p.Ser16=)
c.231A>C (p.Ser77=)
c.6A>C (p.Ser2=)
c.87A>C (p.Ser29=)
n.53-374A>C
c.15A>C (p.Ser5=)
c.217-374A>C (n.217-374A>C)
c.120A>C (p.Ser40=)

Number of alleles fetched