Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63837483A= | CA2270105556 | SMARCD2 | n.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=) | |
17 | g.63837483A>C | CA400601525 | SMARCD2 | n.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) | |
17 | g.63837483A>G | CA400601526 | SMARCD2 | n.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) | |
17 | g.63837483A>T | CA400601527 | SMARCD2 | n.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 |
17 | g.63837484del | CA2639301696 | SMARCD2 | n.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 |
17 | g.63837484G>A | CA400601528 | SMARCD2 | n.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) | |
17 | g.63837484G>C | CA400601530 | SMARCD2 | n.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) | |
17 | g.63837484G>T | CA400601529 | SMARCD2 | n.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) | |
17 | g.63837485C>A | CA501202321 | SMARCD2 | n.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=) | |
17 | g.63837485C>G | CA501202322 | SMARCD2 | n.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=) | |
17 | g.63837485C>T | CA501202324 | SMARCD2 | n.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=) | |
17 | g.63837486A>C | CA400601531 | SMARCD2 | n.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) | |
17 | g.63837486A>G | CA400601532 | SMARCD2 | n.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) | |
17 | g.63837486A>T | CA400601533 | SMARCD2 | n.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) | |
17 | g.63837487G>A | CA292954737 | SMARCD2 | n.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 |
17 | g.63837487G>C | CA400601534 | SMARCD2 | n.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) | |
17 | g.63837487G= | CA2270105557 | SMARCD2 | n.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=) | |
17 | g.63837487G>T | CA400601535 | SMARCD2 | n.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) | |
17 | g.63837488G>A | CA501202325 | SMARCD2 | n.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=) | |
17 | g.63837488G>C | CA501202326 | SMARCD2 | n.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=) | |
17 | g.63837488G>T | CA501202327 | SMARCD2 | n.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=) | |
17 | g.63837489C>A | CA400601536 | SMARCD2 | n.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 |
17 | g.63837489C= | CA2270105558 | SMARCD2 | n.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=) | |
17 | g.63837489C>G | CA400601537 | SMARCD2 | n.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) | |
17 | g.63837489C>T | CA400601538 | SMARCD2 | n.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 |
17 | g.63837490G>A | CA292954742 | SMARCD2 | n.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 |
17 | g.63837490G>C | CA400601539 | SMARCD2 | n.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) | |
17 | g.63837490G= | CA2270105560 | SMARCD2 | n.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=) | |
17 | g.63837490G>T | CA400601540 | SMARCD2 | n.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) | |
17 | g.63837490_63837491delinsGT | CA2270105559 | SMARCD2 | n.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=) | |
17 | g.63837491T>A | CA400601541 | SMARCD2 | n.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 |
17 | g.63837491T>C | CA8706521 | SMARCD2 | n.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 |
17 | g.63837491T>G | CA400601542 | SMARCD2 | n.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) | |
17 | g.63837491T= | CA2270105562 | SMARCD2 | n.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=) | |
17 | g.63837494del | CA2270105561 | SMARCD2 | n.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 |
17 | g.63837492T>A | CA400601543 | SMARCD2 | n.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) | |
17 | g.63837492T>C | CA400601544 | SMARCD2 | n.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) | |
17 | g.63837492T>G | CA400601545 | SMARCD2 | n.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 |
17 | g.63837493T>A | CA400601546 | SMARCD2 | n.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) | |
17 | g.63837493T>C | CA400601547 | SMARCD2 | n.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) | |
17 | g.63837493T>G | CA400601548 | SMARCD2 | n.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) | |
17 | g.63837494T>A | CA501202330 | SMARCD2 | n.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=) | |
17 | g.63837494T>C | CA501202331 | SMARCD2 | n.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=) | |
17 | g.63837494T>G | CA501202333 | SMARCD2 | n.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=) | |
17 | g.63837495C>A | CA400601549 | SMARCD2 | n.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) | |
17 | g.63837495C= | CA2270105563 | SMARCD2 | n.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=) | |
17 | g.63837495C>G | CA400601550 | SMARCD2 | n.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) | |
17 | g.63837495C>T | CA400601551 | SMARCD2 | n.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 |
17 | g.63837496G>A | CA8706522 | SMARCD2 | n.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 |
17 | g.63837496G>C | CA400601552 | SMARCD2 | n.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) | |
17 | g.63837496G= | CA2270105564 | SMARCD2 | n.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=) | |
17 | g.63837496G>T | CA501202335 | SMARCD2 | n.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 |
17 | g.63837497G>A | CA501202336 | SMARCD2 | n.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 |
17 | g.63837497G>C | CA400601553 | SMARCD2 | n.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) | |
17 | g.63837497G>T | CA400601554 | SMARCD2 | n.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) | |
17 | g.63837498A>C | CA400601555 | SMARCD2 | n.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) | |
17 | g.63837498A>G | CA400601557 | SMARCD2 | n.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) | |
17 | g.63837498A>T | CA400601556 | SMARCD2 | n.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) | |
17 | g.63837499A>C | CA400601558 | SMARCD2 | n.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) | |
17 | g.63837499A>G | CA400601559 | SMARCD2 | n.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) | |
17 | g.63837499A>T | CA400601560 | SMARCD2 | n.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) | |
17 | g.63837500T>A | CA501202340 | SMARCD2 | n.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=) | |
17 | g.63837500T>C | CA501202341 | SMARCD2 | n.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 |
17 | g.63837500T>G | CA501202342 | SMARCD2 | n.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=) | |
17 | g.63837500T= | CA2270105565 | SMARCD2 | n.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=) | |
17 | g.63837501G>A | CA400601561 | SMARCD2 | n.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) | |
17 | g.63837501G>C | CA400601562 | SMARCD2 | n.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 |
17 | g.63837501G= | CA2270105566 | SMARCD2 | n.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=) | |
17 | g.63837501G>T | CA400601563 | SMARCD2 | n.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) | |
17 | g.63837502G>A | CA400601564 | SMARCD2 | n.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 |
17 | g.63837502G>C | CA400601565 | SMARCD2 | n.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 |
17 | g.63837502G= | CA2270105567 | SMARCD2 | n.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=) | |
17 | g.63837502G>T | CA400601566 | SMARCD2 | n.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) | |
17 | g.63837503A= | CA2270105568 | SMARCD2 | n.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=) | |
17 | g.63837503A>C | CA400601567 | SMARCD2 | n.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) | |
17 | g.63837503A>G | CA501202343 | SMARCD2 | n.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 |
17 | g.63837503A>T | CA400601568 | SMARCD2 | n.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) | |
17 | g.63837504T>A | CA400601570 | SMARCD2 | n.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 |
17 | g.63837504T>C | CA400601569 | SMARCD2 | n.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 |
17 | g.63837504T>G | CA292954745 | SMARCD2 | n.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 |
17 | g.63837504T= | CA2270105570 | SMARCD2 | n.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=) | |
17 | g.63837504_63837505delinsTC | CA2270105569 | SMARCD2 | n.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=) | |
17 | g.63837505C>A | CA400601572 | SMARCD2 | n.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) | |
17 | g.63837505C>G | CA400601571 | SMARCD2 | n.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) | |
17 | g.63837505C>T | CA400601573 | SMARCD2 | n.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) | |
17 | g.63837506del | CA8706523 | SMARCD2 | n.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 |
17 | g.63837506C>A | CA400601574 | SMARCD2 | n.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 |
17 | g.63837506C>G | CA400601575 | SMARCD2 | n.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) | |
17 | g.63837506C>T | CA400601576 | SMARCD2 | n.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) | |
17 | g.63837507A= | CA2270105571 | SMARCD2 | n.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=) | |
17 | g.63837507A>C | CA400601577 | SMARCD2 | n.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) | |
17 | g.63837507A>G | CA292954750 | SMARCD2 | n.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 |
17 | g.63837507A>T | CA400601578 | SMARCD2 | n.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 |
17 | g.63837508T>A | CA400601579 | SMARCD2 | n.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) | |
17 | g.63837508T>C | CA400601580 | SMARCD2 | n.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 |
17 | g.63837508T>G | CA400601581 | SMARCD2 | n.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 |
17 | g.63837509C>A | CA400601582 | SMARCD2 | n.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) | |
17 | g.63837509C>G | CA400601583 | SMARCD2 | n.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) | |
17 | g.63837509C>T | CA400601584 | SMARCD2 | n.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) | |
17 | g.63837509_63837512delinsCATG | CA2270105572 | SMARCD2 | n.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=) | |
17 | g.63837510A= | CA2270105573 | SMARCD2 | n.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=) | |
17 | g.63837510A>C | CA400601585 | SMARCD2 | n.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 |
17 | g.63837510A>G | CA400601587 | SMARCD2 | n.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 |
17 | g.63837510A>T | CA400601586 | SMARCD2 | n.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) | |
17 | g.63837510_63837512del | CA8706524 | SMARCD2 | n.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 |
17 | g.63837511T>A | CA400601588 | SMARCD2 | n.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) | |
17 | g.63837511T>C | CA8706525 | SMARCD2 | n.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 |
17 | g.63837511T>G | CA400601589 | SMARCD2 | n.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) | |
17 | g.63837511T= | CA2270105574 | SMARCD2 | n.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=) | |
17 | g.63837512G>A | CA501202348 | SMARCD2 | n.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 |
17 | g.63837512G>C | CA501202349 | SMARCD2 | n.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=) | |
17 | g.63837512G>T | CA501202350 | SMARCD2 | n.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=) | |
17 | g.63837513G>A | CA400601590 | SMARCD2 | n.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 |
17 | g.63837513G>C | CA400601591 | SMARCD2 | n.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) | |
17 | g.63837513G>T | CA400601592 | SMARCD2 | n.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) | |
17 | g.63837514T>A | CA400601593 | SMARCD2 | n.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) | |
17 | g.63837514T>C | CA400601594 | SMARCD2 | n.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) | |
17 | g.63837514T>G | CA400601595 | SMARCD2 | n.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) | |
17 | g.63837515G>A | CA501202351 | SMARCD2 | n.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 |
17 | g.63837515G>C | CA501202353 | SMARCD2 | n.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=) | |
17 | g.63837515G= | CA2270105575 | SMARCD2 | n.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=) | |
17 | g.63837515G>T | CA501202352 | SMARCD2 | n.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=) | |
17 | g.63837516G>A | CA400601597 | SMARCD2 | n.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) | |
17 | g.63837516G>C | CA400601598 | SMARCD2 | n.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) | |
17 | g.63837516G>T | CA400601596 | SMARCD2 | n.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) | |
17 | g.63837517G>A | CA400601599 | SMARCD2 | n.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 |
17 | g.63837517G>C | CA400601600 | SMARCD2 | n.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) | |
17 | g.63837517G= | CA2270105576 | SMARCD2 | n.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=) | |
17 | g.63837517G>T | CA400601601 | SMARCD2 | n.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) | |
17 | g.63837518T>A | CA501202354 | SMARCD2 | n.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=) | |
17 | g.63837518T>C | CA501202355 | SMARCD2 | n.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=) | |
17 | g.63837518T>G | CA501202356 | SMARCD2 | n.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=) | |
17 | g.63837519G>A | CA400601602 | SMARCD2 | n.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 |
17 | g.63837519G>C | CA400601603 | SMARCD2 | n.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) | |
17 | g.63837519G>T | CA400601604 | SMARCD2 | n.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) | |
17 | g.63837520G>A | CA8706526 | SMARCD2 | n.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 |
17 | g.63837520G>C | CA400601605 | SMARCD2 | n.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) | |
17 | g.63837520G= | CA2270105577 | SMARCD2 | n.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=) | |
17 | g.63837520G>T | CA400601606 | SMARCD2 | n.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) | |
17 | g.63837521C>A | CA400601607 | SMARCD2 | n.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) | |
17 | g.63837521C>G | CA400601608 | SMARCD2 | n.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) | |
17 | g.63837521C>T | CA400601609 | SMARCD2 | n.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) | |
17 | g.63837522A= | CA2270105578 | SMARCD2 | n.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=) | |
17 | g.63837522A>C | CA400601611 | SMARCD2 | n.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 |
17 | g.63837522A>G | CA400601612 | SMARCD2 | n.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 |
17 | g.63837522A>T | CA400601610 | SMARCD2 | n.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) | |
17 | g.63837523T>A | CA400601613 | SMARCD2 | n.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) | |
17 | g.63837523T>C | CA400601614 | SMARCD2 | n.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) | |
17 | g.63837523T>G | CA400601615 | SMARCD2 | n.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 |
17 | g.63837524G>A | CA501202357 | SMARCD2 | n.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=) | |
17 | g.63837524G>C | CA501202358 | SMARCD2 | n.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=) | |
17 | g.63837524G>T | CA501202359 | SMARCD2 | n.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=) | |
17 | g.63837525C>A | CA400601616 | SMARCD2 | n.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) | |
17 | g.63837525C>G | CA400601617 | SMARCD2 | n.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) | |
17 | g.63837525C>T | CA400601618 | SMARCD2 | n.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) | |
17 | g.63837526del | CA2639301722 | SMARCD2 | n.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 |
17 | g.63837526C>A | CA400601620 | SMARCD2 | n.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) | |
17 | g.63837526C= | CA2270105579 | SMARCD2 | n.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=) | |
17 | g.63837526C>G | CA400601619 | SMARCD2 | n.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 |
17 | g.63837526C>T | CA8706527 | SMARCD2 | n.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 |
17 | g.63837527A>C | CA501202363 | SMARCD2 | n.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=) | |
17 | g.63837527A>G | CA501202361 | SMARCD2 | n.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=) | |
17 | g.63837527A>T | CA501202362 | SMARCD2 | n.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=) | |
17 | g.63837527_63837528delinsAG | CA2270105580 | SMARCD2 | n.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=) | |
17 | g.63837528G>A | CA8706529 | SMARCD2 | n.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 |
17 | g.63837528G>C | CA400601621 | SMARCD2 | n.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) | |
17 | g.63837528G= | CA2270105581 | SMARCD2 | n.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=) | |
17 | g.63837528G>T | CA8706528 | SMARCD2 | n.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 |
17 | g.63837529del | CA773998485 | SMARCD2 | n.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 |
17 | g.63837529G>A | CA400601622 | SMARCD2 | n.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) | |
17 | g.63837529G>C | CA400601623 | SMARCD2 | n.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) | |
17 | g.63837529G>T | CA400601624 | SMARCD2 | n.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) | |
17 | g.63837530T>A | CA501202365 | SMARCD2 | n.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=) | |
17 | g.63837530T>C | CA501202366 | SMARCD2 | n.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=) | |
17 | g.63837530T>G | CA501202367 | SMARCD2 | n.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=) | |
17 | g.63837531C>A | CA400601625 | SMARCD2 | n.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 |
17 | g.63837531C= | CA2270105582 | SMARCD2 | n.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=) | |
17 | g.63837531C>G | CA8706531 | SMARCD2 | n.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 |
17 | g.63837531C>T | CA8706530 | SMARCD2 | n.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 |
17 | g.63837532G>A | CA400601626 | SMARCD2 | n.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 |
17 | g.63837532G>C | CA400601627 | SMARCD2 | n.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) | |
17 | g.63837532G= | CA2270105583 | SMARCD2 | n.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=) | |
17 | g.63837532G>T | CA501202368 | SMARCD2 | n.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 |
17 | g.63837533A>C | CA501202369 | SMARCD2 | n.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=) | |
17 | g.63837533A>G | CA501202370 | SMARCD2 | n.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=) | |
17 | g.63837533A>T | CA501202371 | SMARCD2 | n.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=) | |
17 | g.63837534A= | CA2270105584 | SMARCD2 | n.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=) | |
17 | g.63837534A>C | CA400601628 | SMARCD2 | n.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) | |
17 | g.63837534A>G | CA400601630 | SMARCD2 | n.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 |
17 | g.63837534A>T | CA400601629 | SMARCD2 | n.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) | |
17 | g.63837535G>A | CA400601631 | SMARCD2 | n.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) | |
17 | g.63837535G>C | CA400601632 | SMARCD2 | n.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) | |
17 | g.63837535G>T | CA400601633 | SMARCD2 | n.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) | |
17 | g.63837536C>A | CA501202372 | SMARCD2 | n.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 |
17 | g.63837536C= | CA2270105585 | SMARCD2 | n.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=) | |
17 | g.63837536C>G | CA501202373 | SMARCD2 | n.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 |
17 | g.63837536C>T | CA8706532 | SMARCD2 | n.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 |
17 | g.63837537G>A | CA8706533 | SMARCD2 | n.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 |
17 | g.63837537G>C | CA400601634 | SMARCD2 | n.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) | |
17 | g.63837537G= | CA2270105586 | SMARCD2 | n.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=) | |
17 | g.63837537G>T | CA400601635 | SMARCD2 | n.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) | |
17 | g.63837538G>A | CA400601636 | SMARCD2 | n.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 |
17 | g.63837538G>C | CA400601637 | SMARCD2 | n.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) | |
17 | g.63837538G= | CA2270105587 | SMARCD2 | n.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=) | |
17 | g.63837538G>T | CA400601638 | SMARCD2 | n.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) | |
17 | g.63837539A>C | CA501202374 | SMARCD2 | n.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=) | |
17 | g.63837539A>G | CA501202375 | SMARCD2 | n.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=) | |
17 | g.63837539A>T | CA501202376 | SMARCD2 | n.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=) | |
17 | g.63837540G>A | CA400601639 | SMARCD2 | n.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) | |
17 | g.63837540G>C | CA400601640 | SMARCD2 | n.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) | |
17 | g.63837540G>T | CA400601641 | SMARCD2 | n.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) | |
17 | g.63837541C>A | CA400601642 | SMARCD2 | n.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 |
17 | g.63837541C= | CA2270105588 | SMARCD2 | n.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=) | |
17 | g.63837541C>G | CA400601644 | SMARCD2 | n.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 |
17 | g.63837541C>T | CA400601643 | SMARCD2 | n.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) | |
17 | g.63837542T>A | CA501202377 | SMARCD2 | n.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=) | |
17 | g.63837542T>C | CA501202378 | SMARCD2 | n.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=) | |
17 | g.63837542T>G | CA501202379 | SMARCD2 | n.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=) | |
17 | g.63837542_63837543insCATTTAAAACATACTG | CA2810124245 | SMARCD2 | n.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) | |
17 | g.63837543G>A | CA400601645 | SMARCD2 | n.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) | |
17 | g.63837543G>C | CA400601646 | SMARCD2 | n.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) | |
17 | g.63837543G>T | CA400601647 | SMARCD2 | n.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) | |
17 | g.63837544C>A | CA400601648 | SMARCD2 | n.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) | |
17 | g.63837544C>G | CA400601649 | SMARCD2 | n.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) | |
17 | g.63837544C>T | CA400601650 | SMARCD2 | n.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) | |
17 | g.63837544_63837545insCCCAACACATTCAACTGAGT | CA2810124246 | SMARCD2 | n.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) | |
17 | g.63837545T>A | CA501202380 | SMARCD2 | n.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=) | |
17 | g.63837545T>C | CA501202381 | SMARCD2 | n.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 |
17 | g.63837545T>G | CA501202382 | SMARCD2 | n.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=) | |
17 | g.63837546G>A | CA400601651 | SMARCD2 | n.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) | |
17 | g.63837546G>C | CA400601652 | SMARCD2 | n.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) | |
17 | g.63837546G>T | CA400601653 | SMARCD2 | n.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) | |
17 | g.63837547C>A | CA400601656 | SMARCD2 | n.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) | |
17 | g.63837547C>G | CA400601655 | SMARCD2 | n.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) | |
17 | g.63837547C>T | CA400601654 | SMARCD2 | n.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) | |
17 | g.63837548A>C | CA501202384 | SMARCD2 | n.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=) | |
17 | g.63837548A>G | CA501202386 | SMARCD2 | n.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=) | |
17 | g.63837548A>T | CA501202385 | SMARCD2 | n.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=) | |
17 | g.63837549C>A | CA400601657 | SMARCD2 | n.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 |
17 | g.63837549C>G | CA400601658 | SMARCD2 | n.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) | |
17 | g.63837549C>T | CA400601659 | SMARCD2 | n.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 |
17 | g.63837550C>A | CA400601660 | SMARCD2 | n.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) | |
17 | g.63837550C>G | CA400601661 | SMARCD2 | n.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) | |
17 | g.63837550C>T | CA400601662 | SMARCD2 | n.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) | |
17 | g.63837551A= | CA2270105589 | SMARCD2 | n.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=) | |
17 | g.63837551A>C | CA400601663 | SMARCD2 | n.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) | |
17 | g.63837551A>G | CA8706534 | SMARCD2 | n.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 |
17 | g.63837551A>T | CA400601664 | SMARCD2 | n.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) | |
17 | g.63837552A>C | CA400601665 | SMARCD2 | n.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) | |
17 | g.63837552A>G | CA400601666 | SMARCD2 | n.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) | |
17 | g.63837552A>T | CA400601667 | SMARCD2 | n.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) | |
17 | g.63837553A>C | CA400601670 | SMARCD2 | n.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) | |
17 | g.63837553A>G | CA400601668 | SMARCD2 | n.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) | |
17 | g.63837553A>T | CA400601669 | SMARCD2 | n.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) | |
17 | g.63837554T>A | CA501202392 | SMARCD2 | n.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=) | |
17 | g.63837554T>C | CA501202393 | SMARCD2 | n.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 |
17 | g.63837554T>G | CA501202394 | SMARCD2 | n.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=) | |
17 | g.63837554T= | CA2270105590 | SMARCD2 | n.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=) | |
17 | g.63837555G>A | CA8706535 | SMARCD2 | n.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 |
17 | g.63837555G>C | CA400601671 | SMARCD2 | n.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) | |
17 | g.63837555G= | CA2270105591 | SMARCD2 | n.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=) | |
17 | g.63837555G>T | CA400601672 | SMARCD2 | n.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) | |
17 | g.63837558del | CA645572038 | SMARCD2 | n.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 |
17 | g.63837556G>A | CA400601673 | SMARCD2 | n.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) | |
17 | g.63837556G>C | CA400601674 | SMARCD2 | n.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 |
17 | g.63837556G>T | CA400601675 | SMARCD2 | n.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) | |
17 | g.63837557G>A | CA501202397 | SMARCD2 | n.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=) | |
17 | g.63837557G>C | CA501202398 | SMARCD2 | n.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=) | |
17 | g.63837557G>T | CA501202399 | SMARCD2 | n.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=) | |
17 | g.63837558G>A | CA400601676 | SMARCD2 | n.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) | |
17 | g.63837558G>C | CA400601677 | SMARCD2 | n.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) | |
17 | g.63837558G>T | CA400601678 | SMARCD2 | n.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) | |
17 | g.63837559A>C | CA400601679 | SMARCD2 | n.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) | |
17 | g.63837559A>G | CA400601680 | SMARCD2 | n.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) | |
17 | g.63837559A>T | CA400601681 | SMARCD2 | n.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) | |
17 | g.63837560G>A | CA501202402 | SMARCD2 | n.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 |
17 | g.63837560G>C | CA501202404 | SMARCD2 | n.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=) | |
17 | g.63837560G= | CA2270105592 | SMARCD2 | n.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=) | |
17 | g.63837560G>T | CA501202405 | SMARCD2 | n.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=) | |
17 | g.63837561C>A | CA400601683 | SMARCD2 | n.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 |
17 | g.63837561C= | CA2270105593 | SMARCD2 | n.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=) | |
17 | g.63837561C>G | CA400601684 | SMARCD2 | n.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 |
17 | g.63837561C>T | CA400601682 | SMARCD2 | n.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 |
17 | g.63837562C>A | CA400601685 | SMARCD2 | n.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) | |
17 | g.63837562C>G | CA400601686 | SMARCD2 | n.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) | |
17 | g.63837562C>T | CA400601687 | SMARCD2 | n.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 |
17 | g.63837563A>C | CA501202406 | SMARCD2 | n.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=) | |
17 | g.63837563A>G | CA501202408 | SMARCD2 | n.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=) | |
17 | g.63837563A>T | CA501202409 | SMARCD2 | n.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=) | |
17 | g.63837564G>A | CA400601688 | SMARCD2 | n.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) | |
17 | g.63837564G>C | CA400601689 | SMARCD2 | n.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) | |
17 | g.63837564G>T | CA400601690 | SMARCD2 | n.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) | |
17 | g.63837565C>A | CA400601691 | SMARCD2 | n.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) | |
17 | g.63837565C= | CA2270105594 | SMARCD2 | n.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=) | |
17 | g.63837565C>G | CA8706536 | SMARCD2 | n.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 |
17 | g.63837565C>T | CA292954824 | SMARCD2 | n.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 |
17 | g.63837566A>C | CA501202411 | SMARCD2 | n.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=) | |
17 | g.63837566A>G | CA501202412 | SMARCD2 | n.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=) | |
17 | g.63837566A>T | CA501202413 | SMARCD2 | n.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=) | |
17 | g.63837567G>A | CA400601692 | SMARCD2 | n.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) | |
17 | g.63837567G>C | CA400601693 | SMARCD2 | n.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) | |
17 | g.63837567G>T | CA400601694 | SMARCD2 | n.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) | |
17 | g.63837571del | CA501202414 | SMARCD2 | n.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 |
17 | g.63837568G>A | CA8706537 | SMARCD2 | n.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 |
17 | g.63837568G>C | CA400601695 | SMARCD2 | n.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) | |
17 | g.63837568G= | CA2270105595 | SMARCD2 | n.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=) | |
17 | g.63837568G>T | CA400601696 | SMARCD2 | n.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) | |
17 | g.63837569G>A | CA501202418 | SMARCD2 | n.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=) | |
17 | g.63837569G>C | CA501202420 | SMARCD2 | n.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 |
17 | g.63837569G= | CA2270105596 | SMARCD2 | n.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=) | |
17 | g.63837569G>T | CA501202419 | SMARCD2 | n.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=) | |
17 | g.63837570G>A | CA400601697 | SMARCD2 | n.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) | |
17 | g.63837570G>C | CA400601699 | SMARCD2 | n.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) | |
17 | g.63837570G>T | CA400601698 | SMARCD2 | n.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) | |
17 | g.63837571G>A | CA400601700 | SMARCD2 | n.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 |
17 | g.63837571G>C | CA400601701 | SMARCD2 | n.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) | |
17 | g.63837571G>T | CA400601702 | SMARCD2 | n.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) | |
17 | g.63837572T>A | CA501202424 | SMARCD2 | n.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=) | |
17 | g.63837572T>C | CA501202425 | SMARCD2 | n.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=) | |
17 | g.63837572T>G | CA501202426 | SMARCD2 | n.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 |
17 | g.63837572T= | CA2270105597 | SMARCD2 | n.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=) | |
17 | g.63837573C>A | CA400601703 | SMARCD2 | n.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) | |
17 | g.63837573C>G | CA400601704 | SMARCD2 | n.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) | |
17 | g.63837573C>T | CA400601705 | SMARCD2 | n.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) | |
17 | g.63837574C>A | CA400601706 | SMARCD2 | n.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) | |
17 | g.63837574C>G | CA400601707 | SMARCD2 | n.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) | |
17 | g.63837574C>T | CA400601708 | SMARCD2 | n.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) | |
17 | g.63837575C>A | CA501202428 | SMARCD2 | n.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=) | |
17 | g.63837575C>G | CA501202429 | SMARCD2 | n.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=) | |
17 | g.63837575C>T | CA501202430 | SMARCD2 | n.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=) | |
17 | g.63837576A>C | CA400601709 | SMARCD2 | n.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 |
17 | g.63837576A>G | CA400601710 | SMARCD2 | n.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) | |
17 | g.63837576A>T | CA400601711 | SMARCD2 | n.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) | |
17 | g.63837577C>A | CA400601712 | SMARCD2 | n.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) | |
17 | g.63837577C>G | CA400601714 | SMARCD2 | n.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) | |
17 | g.63837577C>T | CA400601713 | SMARCD2 | n.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 |
17 | g.63837578C>A | CA400601715 | SMARCD2 | n.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) | |
17 | g.63837578C= | CA2270105598 | SMARCD2 | n.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=) | |
17 | g.63837578C>G | CA400601716 | SMARCD2 | n.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 |
17 | g.63837578C>T | CA501202434 | SMARCD2 | n.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=) | |
17 | g.63837579T>A | CA400601717 | SMARCD2 | n.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) | |
17 | g.63837579T>C | CA8706538 | SMARCD2 | n.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 |
17 | g.63837579T>G | CA400601718 | SMARCD2 | n.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) | |
17 | g.63837579T= | CA2270105599 | SMARCD2 | n.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=) | |
17 | g.63837580G>A | CA400601719 | SMARCD2 | n.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 |
17 | g.63837580G>C | CA400601720 | SMARCD2 | n.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) | |
17 | g.63837580G>T | CA400601721 | SMARCD2 | n.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) | |
17 | g.63837581C>A | CA400601722 | SMARCD2 | n.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) | |
17 | g.63837581C>G | CA400601723 | SMARCD2 | n.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) | |
17 | g.63837581C>T | CA501202435 | SMARCD2 | n.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=) | |
17 | g.63837582A>C | CA400601724 | SMARCD2 | n.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) | |
17 | g.63837582A>G | CA400601725 | SMARCD2 | n.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) | |
17 | g.63837582A>T | CA400601726 | SMARCD2 | n.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) | |
17 | g.63837583A>C | CA400601728 | SMARCD2 | n.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) | |
17 | g.63837583A>G | CA501202436 | SMARCD2 | n.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=) | |
17 | g.63837583A>T | CA400601727 | SMARCD2 | n.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) |