Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63837447C>A | CA400601455 | SMARCD2 | n.283G>T n.29G>T c.254G>T (p.Arg85Leu) c.58G>T c.212G>T (p.Arg71Leu) c.395G>T (p.Arg132Leu) c.170G>T (p.Arg57Leu) c.251G>T (p.Arg84Leu) n.53-210G>T c.179G>T (p.Arg60Leu) c.217-210G>T (n.217-210G>T) c.284G>T (p.Arg95Leu) | |
17 | g.63837447C= | CA2270105538 | SMARCD2 | n.283G= n.29G= c.254G= (p.Arg85=) c.58G= c.212G= (p.Arg71=) c.395G= (p.Arg132=) c.170G= (p.Arg57=) c.251G= (p.Arg84=) n.53-210G= c.179G= (p.Arg60=) c.217-210G= (n.217-210G=) c.284G= (p.Arg95=) | |
17 | g.63837447C>G | CA400601454 | SMARCD2 | n.283G>C n.29G>C c.254G>C (p.Arg85Pro) c.58G>C c.212G>C (p.Arg71Pro) c.395G>C (p.Arg132Pro) c.170G>C (p.Arg57Pro) c.251G>C (p.Arg84Pro) n.53-210G>C c.179G>C (p.Arg60Pro) c.217-210G>C (n.217-210G>C) c.284G>C (p.Arg95Pro) | |
17 | g.63837447C>T | CA8706513 | SMARCD2 | n.283G>A n.29G>A c.254G>A (p.Arg85His) c.58G>A c.212G>A (p.Arg71His) c.395G>A (p.Arg132His) c.170G>A (p.Arg57His) c.251G>A (p.Arg84His) n.53-210G>A c.179G>A (p.Arg60His) c.217-210G>A (n.217-210G>A) c.284G>A (p.Arg95His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63837447dup | CA2842454462 | SMARCD2 | n.283dup n.29dup c.254dup (p.Arg86ProfsTer11) c.58dup c.212dup (p.Arg72ProfsTer11) c.395dup (p.Arg133ProfsTer11) c.170dup (p.Arg58ProfsTer11) c.251dup (p.Arg85ProfsTer11) n.53-210dup c.179dup (p.Arg61ProfsTer11) c.217-210dup (n.217-210dup) c.284dup (p.Arg96ProfsTer11) | |
17 | g.63837448G>A | CA292954688 | SMARCD2 | n.282C>T n.28C>T c.253C>T (p.Arg85Cys) c.57C>T c.211C>T (p.Arg71Cys) c.394C>T (p.Arg132Cys) c.169C>T (p.Arg57Cys) c.250C>T (p.Arg84Cys) n.53-211C>T c.178C>T (p.Arg60Cys) c.217-211C>T (n.217-211C>T) c.283C>T (p.Arg95Cys) | dbSNP gnomAD v4 |
17 | g.63837448G>C | CA400601456 | SMARCD2 | n.282C>G n.28C>G c.253C>G (p.Arg85Gly) c.57C>G c.211C>G (p.Arg71Gly) c.394C>G (p.Arg132Gly) c.169C>G (p.Arg57Gly) c.250C>G (p.Arg84Gly) n.53-211C>G c.178C>G (p.Arg60Gly) c.217-211C>G (n.217-211C>G) c.283C>G (p.Arg95Gly) | |
17 | g.63837448G= | CA2270105539 | SMARCD2 | n.282C= n.28C= c.253C= (p.Arg85=) c.57C= c.211C= (p.Arg71=) c.394C= (p.Arg132=) c.169C= (p.Arg57=) c.250C= (p.Arg84=) n.53-211C= c.178C= (p.Arg60=) c.217-211C= (n.217-211C=) c.283C= (p.Arg95=) | |
17 | g.63837448G>T | CA400601457 | SMARCD2 | n.282C>A n.28C>A c.253C>A (p.Arg85Ser) c.57C>A c.211C>A (p.Arg71Ser) c.394C>A (p.Arg132Ser) c.169C>A (p.Arg57Ser) c.250C>A (p.Arg84Ser) n.53-211C>A c.178C>A (p.Arg60Ser) c.217-211C>A (n.217-211C>A) c.283C>A (p.Arg95Ser) | |
17 | g.63837449C>A | CA400601458 | SMARCD2 | n.281G>T n.27G>T c.252G>T (p.Gln84His) c.56G>T c.210G>T (p.Gln70His) c.393G>T (p.Gln131His) c.168G>T (p.Gln56His) c.249G>T (p.Gln83His) n.53-212G>T c.177G>T (p.Gln59His) c.217-212G>T (n.217-212G>T) c.282G>T (p.Gln94His) | |
17 | g.63837449C= | CA2270105540 | SMARCD2 | n.281G= n.27G= c.252G= (p.Gln84=) c.56G= c.210G= (p.Gln70=) c.393G= (p.Gln131=) c.168G= (p.Gln56=) c.249G= (p.Gln83=) n.53-212G= c.177G= (p.Gln59=) c.217-212G= (n.217-212G=) c.282G= (p.Gln94=) | |
17 | g.63837449C>G | CA400601459 | SMARCD2 | n.281G>C n.27G>C c.252G>C (p.Gln84His) c.56G>C c.210G>C (p.Gln70His) c.393G>C (p.Gln131His) c.168G>C (p.Gln56His) c.249G>C (p.Gln83His) n.53-212G>C c.177G>C (p.Gln59His) c.217-212G>C (n.217-212G>C) c.282G>C (p.Gln94His) | |
17 | g.63837449C>T | CA292954696 | SMARCD2 | n.281G>A n.27G>A c.252G>A (p.Gln84=) c.56G>A c.210G>A (p.Gln70=) c.393G>A (p.Gln131=) c.168G>A (p.Gln56=) c.249G>A (p.Gln83=) n.53-212G>A c.177G>A (p.Gln59=) c.217-212G>A (n.217-212G>A) c.282G>A (p.Gln94=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63837450T>A | CA400601460 | SMARCD2 | n.280A>T n.26A>T c.251A>T (p.Gln84Leu) c.55A>T c.209A>T (p.Gln70Leu) c.392A>T (p.Gln131Leu) c.167A>T (p.Gln56Leu) c.248A>T (p.Gln83Leu) n.53-213A>T c.176A>T (p.Gln59Leu) c.217-213A>T (n.217-213A>T) c.281A>T (p.Gln94Leu) | |
17 | g.63837450T>C | CA400601461 | SMARCD2 | n.280A>G n.26A>G c.251A>G (p.Gln84Arg) c.55A>G c.209A>G (p.Gln70Arg) c.392A>G (p.Gln131Arg) c.167A>G (p.Gln56Arg) c.248A>G (p.Gln83Arg) n.53-213A>G c.176A>G (p.Gln59Arg) c.217-213A>G (n.217-213A>G) c.281A>G (p.Gln94Arg) | |
17 | g.63837450T>G | CA400601462 | SMARCD2 | n.280A>C n.26A>C c.251A>C (p.Gln84Pro) c.55A>C c.209A>C (p.Gln70Pro) c.392A>C (p.Gln131Pro) c.167A>C (p.Gln56Pro) c.248A>C (p.Gln83Pro) n.53-213A>C c.176A>C (p.Gln59Pro) c.217-213A>C (n.217-213A>C) c.281A>C (p.Gln94Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63837450T= | CA2270105541 | SMARCD2 | n.280A= n.26A= c.251A= (p.Gln84=) c.55A= c.209A= (p.Gln70=) c.392A= (p.Gln131=) c.167A= (p.Gln56=) c.248A= (p.Gln83=) n.53-213A= c.176A= (p.Gln59=) c.217-213A= (n.217-213A=) c.281A= (p.Gln94=) | |
17 | g.63837451G>A | CA400601463 | SMARCD2 | n.279C>T n.25C>T c.250C>T (p.Gln84Ter) c.54C>T c.208C>T (p.Gln70Ter) c.391C>T (p.Gln131Ter) c.166C>T (p.Gln56Ter) c.247C>T (p.Gln83Ter) n.53-214C>T c.175C>T (p.Gln59Ter) c.217-214C>T (n.217-214C>T) c.280C>T (p.Gln94Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63837451G>C | CA400601464 | SMARCD2 | n.279C>G n.25C>G c.250C>G (p.Gln84Glu) c.54C>G c.208C>G (p.Gln70Glu) c.391C>G (p.Gln131Glu) c.166C>G (p.Gln56Glu) c.247C>G (p.Gln83Glu) n.53-214C>G c.175C>G (p.Gln59Glu) c.217-214C>G (n.217-214C>G) c.280C>G (p.Gln94Glu) | |
17 | g.63837451G= | CA2270105542 | SMARCD2 | n.279C= n.25C= c.250C= (p.Gln84=) c.54C= c.208C= (p.Gln70=) c.391C= (p.Gln131=) c.166C= (p.Gln56=) c.247C= (p.Gln83=) n.53-214C= c.175C= (p.Gln59=) c.217-214C= (n.217-214C=) c.280C= (p.Gln94=) | |
17 | g.63837451G>T | CA400601465 | SMARCD2 | n.279C>A n.25C>A c.250C>A (p.Gln84Lys) c.54C>A c.208C>A (p.Gln70Lys) c.391C>A (p.Gln131Lys) c.166C>A (p.Gln56Lys) c.247C>A (p.Gln83Lys) n.53-214C>A c.175C>A (p.Gln59Lys) c.217-214C>A (n.217-214C>A) c.280C>A (p.Gln94Lys) | |
17 | g.63837452G>A | CA501202276 | SMARCD2 | n.278C>T n.24C>T c.249C>T (p.Ala83=) c.53C>T c.207C>T (p.Ala69=) c.390C>T (p.Ala130=) c.165C>T (p.Ala55=) c.246C>T (p.Ala82=) n.53-215C>T c.174C>T (p.Ala58=) c.217-215C>T (n.217-215C>T) c.279C>T (p.Ala93=) | |
17 | g.63837452G>C | CA501202277 | SMARCD2 | n.278C>G n.24C>G c.249C>G (p.Ala83=) c.53C>G c.207C>G (p.Ala69=) c.390C>G (p.Ala130=) c.165C>G (p.Ala55=) c.246C>G (p.Ala82=) n.53-215C>G c.174C>G (p.Ala58=) c.217-215C>G (n.217-215C>G) c.279C>G (p.Ala93=) | |
17 | g.63837452G>T | CA501202278 | SMARCD2 | n.278C>A n.24C>A c.249C>A (p.Ala83=) c.53C>A c.207C>A (p.Ala69=) c.390C>A (p.Ala130=) c.165C>A (p.Ala55=) c.246C>A (p.Ala82=) n.53-215C>A c.174C>A (p.Ala58=) c.217-215C>A (n.217-215C>A) c.279C>A (p.Ala93=) | |
17 | g.63837453G>A | CA400601466 | SMARCD2 | n.277C>T n.23C>T c.248C>T (p.Ala83Val) c.52C>T c.206C>T (p.Ala69Val) c.389C>T (p.Ala130Val) c.164C>T (p.Ala55Val) c.245C>T (p.Ala82Val) n.53-216C>T c.173C>T (p.Ala58Val) c.217-216C>T (n.217-216C>T) c.278C>T (p.Ala93Val) | gnomAD v4 |
17 | g.63837453G>C | CA400601467 | SMARCD2 | n.277C>G n.23C>G c.248C>G (p.Ala83Gly) c.52C>G c.206C>G (p.Ala69Gly) c.389C>G (p.Ala130Gly) c.164C>G (p.Ala55Gly) c.245C>G (p.Ala82Gly) n.53-216C>G c.173C>G (p.Ala58Gly) c.217-216C>G (n.217-216C>G) c.278C>G (p.Ala93Gly) | |
17 | g.63837453G>T | CA400601468 | SMARCD2 | n.277C>A n.23C>A c.248C>A (p.Ala83Asp) c.52C>A c.206C>A (p.Ala69Asp) c.389C>A (p.Ala130Asp) c.164C>A (p.Ala55Asp) c.245C>A (p.Ala82Asp) n.53-216C>A c.173C>A (p.Ala58Asp) c.217-216C>A (n.217-216C>A) c.278C>A (p.Ala93Asp) | |
17 | g.63837454C>A | CA8706514 | SMARCD2 | n.276G>T n.22G>T c.247G>T (p.Ala83Ser) c.51G>T c.205G>T (p.Ala69Ser) c.388G>T (p.Ala130Ser) c.163G>T (p.Ala55Ser) c.244G>T (p.Ala82Ser) n.53-217G>T c.172G>T (p.Ala58Ser) c.217-217G>T (n.217-217G>T) c.277G>T (p.Ala93Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63837454C= | CA2270105543 | SMARCD2 | n.276G= n.22G= c.247G= (p.Ala83=) c.51G= c.205G= (p.Ala69=) c.388G= (p.Ala130=) c.163G= (p.Ala55=) c.244G= (p.Ala82=) n.53-217G= c.172G= (p.Ala58=) c.217-217G= (n.217-217G=) c.277G= (p.Ala93=) | |
17 | g.63837454C>G | CA400601470 | SMARCD2 | n.276G>C n.22G>C c.247G>C (p.Ala83Pro) c.51G>C c.205G>C (p.Ala69Pro) c.388G>C (p.Ala130Pro) c.163G>C (p.Ala55Pro) c.244G>C (p.Ala82Pro) n.53-217G>C c.172G>C (p.Ala58Pro) c.217-217G>C (n.217-217G>C) c.277G>C (p.Ala93Pro) | |
17 | g.63837454C>T | CA400601469 | SMARCD2 | n.276G>A n.22G>A c.247G>A (p.Ala83Thr) c.51G>A c.205G>A (p.Ala69Thr) c.388G>A (p.Ala130Thr) c.163G>A (p.Ala55Thr) c.244G>A (p.Ala82Thr) n.53-217G>A c.172G>A (p.Ala58Thr) c.217-217G>A (n.217-217G>A) c.277G>A (p.Ala93Thr) | ClinVar gnomAD v4 |
17 | g.63837455A>C | CA501202284 | SMARCD2 | n.275T>G n.21T>G c.246T>G (p.Pro82=) c.50T>G c.204T>G (p.Pro68=) c.387T>G (p.Pro129=) c.162T>G (p.Pro54=) c.243T>G (p.Pro81=) n.53-218T>G c.171T>G (p.Pro57=) c.217-218T>G (n.217-218T>G) c.276T>G (p.Pro92=) | |
17 | g.63837455A>G | CA501202282 | SMARCD2 | n.275T>C n.21T>C c.246T>C (p.Pro82=) c.50T>C c.204T>C (p.Pro68=) c.387T>C (p.Pro129=) c.162T>C (p.Pro54=) c.243T>C (p.Pro81=) n.53-218T>C c.171T>C (p.Pro57=) c.217-218T>C (n.217-218T>C) c.276T>C (p.Pro92=) | gnomAD v4 |
17 | g.63837455A>T | CA501202280 | SMARCD2 | n.275T>A n.21T>A c.246T>A (p.Pro82=) c.50T>A c.204T>A (p.Pro68=) c.387T>A (p.Pro129=) c.162T>A (p.Pro54=) c.243T>A (p.Pro81=) n.53-218T>A c.171T>A (p.Pro57=) c.217-218T>A (n.217-218T>A) c.276T>A (p.Pro92=) | |
17 | g.63837456G>A | CA8706515 | SMARCD2 | n.274C>T n.20C>T c.245C>T (p.Pro82Leu) c.49C>T c.203C>T (p.Pro68Leu) c.386C>T (p.Pro129Leu) c.161C>T (p.Pro54Leu) c.242C>T (p.Pro81Leu) n.53-219C>T c.170C>T (p.Pro57Leu) c.217-219C>T (n.217-219C>T) c.275C>T (p.Pro92Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63837456G>C | CA400601471 | SMARCD2 | n.274C>G n.20C>G c.245C>G (p.Pro82Arg) c.49C>G c.203C>G (p.Pro68Arg) c.386C>G (p.Pro129Arg) c.161C>G (p.Pro54Arg) c.242C>G (p.Pro81Arg) n.53-219C>G c.170C>G (p.Pro57Arg) c.217-219C>G (n.217-219C>G) c.275C>G (p.Pro92Arg) | |
17 | g.63837456G= | CA2270105544 | SMARCD2 | n.274C= n.20C= c.245C= (p.Pro82=) c.49C= c.203C= (p.Pro68=) c.386C= (p.Pro129=) c.161C= (p.Pro54=) c.242C= (p.Pro81=) n.53-219C= c.170C= (p.Pro57=) c.217-219C= (n.217-219C=) c.275C= (p.Pro92=) | |
17 | g.63837456G>T | CA400601472 | SMARCD2 | n.274C>A n.20C>A c.245C>A (p.Pro82His) c.49C>A c.203C>A (p.Pro68His) c.386C>A (p.Pro129His) c.161C>A (p.Pro54His) c.242C>A (p.Pro81His) n.53-219C>A c.170C>A (p.Pro57His) c.217-219C>A (n.217-219C>A) c.275C>A (p.Pro92His) | |
17 | g.63837457G>A | CA8706516 | SMARCD2 | n.273C>T n.19C>T c.244C>T (p.Pro82Ser) c.48C>T c.202C>T (p.Pro68Ser) c.385C>T (p.Pro129Ser) c.160C>T (p.Pro54Ser) c.241C>T (p.Pro81Ser) n.53-220C>T c.169C>T (p.Pro57Ser) c.217-220C>T (n.217-220C>T) c.274C>T (p.Pro92Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63837457G>C | CA400601473 | SMARCD2 | n.273C>G n.19C>G c.244C>G (p.Pro82Ala) c.48C>G c.202C>G (p.Pro68Ala) c.385C>G (p.Pro129Ala) c.160C>G (p.Pro54Ala) c.241C>G (p.Pro81Ala) n.53-220C>G c.169C>G (p.Pro57Ala) c.217-220C>G (n.217-220C>G) c.274C>G (p.Pro92Ala) | |
17 | g.63837457G= | CA2270105545 | SMARCD2 | n.273C= n.19C= c.244C= (p.Pro82=) c.48C= c.202C= (p.Pro68=) c.385C= (p.Pro129=) c.160C= (p.Pro54=) c.241C= (p.Pro81=) n.53-220C= c.169C= (p.Pro57=) c.217-220C= (n.217-220C=) c.274C= (p.Pro92=) | |
17 | g.63837457G>T | CA400601474 | SMARCD2 | n.273C>A n.19C>A c.244C>A (p.Pro82Thr) c.48C>A c.202C>A (p.Pro68Thr) c.385C>A (p.Pro129Thr) c.160C>A (p.Pro54Thr) c.241C>A (p.Pro81Thr) n.53-220C>A c.169C>A (p.Pro57Thr) c.217-220C>A (n.217-220C>A) c.274C>A (p.Pro92Thr) | |
17 | g.63837458C>A | CA400601475 | SMARCD2 | n.272G>T n.18G>T c.243G>T (p.Met81Ile) c.47G>T c.201G>T (p.Met67Ile) c.384G>T (p.Met128Ile) c.159G>T (p.Met53Ile) c.240G>T (p.Met80Ile) n.53-221G>T c.168G>T (p.Met56Ile) c.217-221G>T (n.217-221G>T) c.273G>T (p.Met91Ile) | gnomAD v4 |
17 | g.63837458C>G | CA400601476 | SMARCD2 | n.272G>C n.18G>C c.243G>C (p.Met81Ile) c.47G>C c.201G>C (p.Met67Ile) c.384G>C (p.Met128Ile) c.159G>C (p.Met53Ile) c.240G>C (p.Met80Ile) n.53-221G>C c.168G>C (p.Met56Ile) c.217-221G>C (n.217-221G>C) c.273G>C (p.Met91Ile) | |
17 | g.63837458C>T | CA400601477 | SMARCD2 | n.272G>A n.18G>A c.243G>A (p.Met81Ile) c.47G>A c.201G>A (p.Met67Ile) c.384G>A (p.Met128Ile) c.159G>A (p.Met53Ile) c.240G>A (p.Met80Ile) n.53-221G>A c.168G>A (p.Met56Ile) c.217-221G>A (n.217-221G>A) c.273G>A (p.Met91Ile) | gnomAD v4 |
17 | g.63837459A= | CA2270105546 | SMARCD2 | n.271T= n.17T= c.242T= (p.Met81=) c.46T= c.200T= (p.Met67=) c.383T= (p.Met128=) c.158T= (p.Met53=) c.239T= (p.Met80=) n.53-222T= c.167T= (p.Met56=) c.217-222T= (n.217-222T=) c.272T= (p.Met91=) | |
17 | g.63837459A>C | CA400601478 | SMARCD2 | n.271T>G n.17T>G c.242T>G (p.Met81Arg) c.46T>G c.200T>G (p.Met67Arg) c.383T>G (p.Met128Arg) c.158T>G (p.Met53Arg) c.239T>G (p.Met80Arg) n.53-222T>G c.167T>G (p.Met56Arg) c.217-222T>G (n.217-222T>G) c.272T>G (p.Met91Arg) | |
17 | g.63837459A>G | CA400601479 | SMARCD2 | n.271T>C n.17T>C c.242T>C (p.Met81Thr) c.46T>C c.200T>C (p.Met67Thr) c.383T>C (p.Met128Thr) c.158T>C (p.Met53Thr) c.239T>C (p.Met80Thr) n.53-222T>C c.167T>C (p.Met56Thr) c.217-222T>C (n.217-222T>C) c.272T>C (p.Met91Thr) | dbSNP gnomAD v4 |
17 | g.63837459A>T | CA400601480 | SMARCD2 | n.271T>A n.17T>A c.242T>A (p.Met81Lys) c.46T>A c.200T>A (p.Met67Lys) c.383T>A (p.Met128Lys) c.158T>A (p.Met53Lys) c.239T>A (p.Met80Lys) n.53-222T>A c.167T>A (p.Met56Lys) c.217-222T>A (n.217-222T>A) c.272T>A (p.Met91Lys) | |
17 | g.63837460T>A | CA400601482 | SMARCD2 | n.270A>T n.16A>T c.241A>T (p.Met81Leu) c.45A>T c.199A>T (p.Met67Leu) c.382A>T (p.Met128Leu) c.157A>T (p.Met53Leu) c.238A>T (p.Met80Leu) n.53-223A>T c.166A>T (p.Met56Leu) c.217-223A>T (n.217-223A>T) c.271A>T (p.Met91Leu) | |
17 | g.63837460T>C | CA400601483 | SMARCD2 | n.270A>G n.16A>G c.241A>G (p.Met81Val) c.45A>G c.199A>G (p.Met67Val) c.382A>G (p.Met128Val) c.157A>G (p.Met53Val) c.238A>G (p.Met80Val) n.53-223A>G c.166A>G (p.Met56Val) c.217-223A>G (n.217-223A>G) c.271A>G (p.Met91Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63837460T>G | CA400601481 | SMARCD2 | n.270A>C n.16A>C c.241A>C (p.Met81Leu) c.45A>C c.199A>C (p.Met67Leu) c.382A>C (p.Met128Leu) c.157A>C (p.Met53Leu) c.238A>C (p.Met80Leu) n.53-223A>C c.166A>C (p.Met56Leu) c.217-223A>C (n.217-223A>C) c.271A>C (p.Met91Leu) | |
17 | g.63837460T= | CA2270105547 | SMARCD2 | n.270A= n.16A= c.241A= (p.Met81=) c.45A= c.199A= (p.Met67=) c.382A= (p.Met128=) c.157A= (p.Met53=) c.238A= (p.Met80=) n.53-223A= c.166A= (p.Met56=) c.217-223A= (n.217-223A=) c.271A= (p.Met91=) | |
17 | g.63837461G>A | CA501202287 | SMARCD2 | n.269C>T n.15C>T c.240C>T (p.Pro80=) c.44C>T c.198C>T (p.Pro66=) c.381C>T (p.Pro127=) c.156C>T (p.Pro52=) c.237C>T (p.Pro79=) n.53-224C>T c.165C>T (p.Pro55=) c.217-224C>T (n.217-224C>T) c.270C>T (p.Pro90=) | |
17 | g.63837461G>C | CA501202288 | SMARCD2 | n.269C>G n.15C>G c.240C>G (p.Pro80=) c.44C>G c.198C>G (p.Pro66=) c.381C>G (p.Pro127=) c.156C>G (p.Pro52=) c.237C>G (p.Pro79=) n.53-224C>G c.165C>G (p.Pro55=) c.217-224C>G (n.217-224C>G) c.270C>G (p.Pro90=) | |
17 | g.63837461G>T | CA501202290 | SMARCD2 | n.269C>A n.15C>A c.240C>A (p.Pro80=) c.44C>A c.198C>A (p.Pro66=) c.381C>A (p.Pro127=) c.156C>A (p.Pro52=) c.237C>A (p.Pro79=) n.53-224C>A c.165C>A (p.Pro55=) c.217-224C>A (n.217-224C>A) c.270C>A (p.Pro90=) | |
17 | g.63837462G>A | CA400601484 | SMARCD2 | n.268C>T n.14C>T c.239C>T (p.Pro80Leu) c.43C>T c.197C>T (p.Pro66Leu) c.380C>T (p.Pro127Leu) c.155C>T (p.Pro52Leu) c.236C>T (p.Pro79Leu) n.53-225C>T c.164C>T (p.Pro55Leu) c.217-225C>T (n.217-225C>T) c.269C>T (p.Pro90Leu) | |
17 | g.63837462G>C | CA400601485 | SMARCD2 | n.268C>G n.14C>G c.239C>G (p.Pro80Arg) c.43C>G c.197C>G (p.Pro66Arg) c.380C>G (p.Pro127Arg) c.155C>G (p.Pro52Arg) c.236C>G (p.Pro79Arg) n.53-225C>G c.164C>G (p.Pro55Arg) c.217-225C>G (n.217-225C>G) c.269C>G (p.Pro90Arg) | |
17 | g.63837462G>T | CA400601486 | SMARCD2 | n.268C>A n.14C>A c.239C>A (p.Pro80His) c.43C>A c.197C>A (p.Pro66His) c.380C>A (p.Pro127His) c.155C>A (p.Pro52His) c.236C>A (p.Pro79His) n.53-225C>A c.164C>A (p.Pro55His) c.217-225C>A (n.217-225C>A) c.269C>A (p.Pro90His) | |
17 | g.63837463G>A | CA400601487 | SMARCD2 | n.267C>T n.13C>T c.238C>T (p.Pro80Ser) c.42C>T c.196C>T (p.Pro66Ser) c.379C>T (p.Pro127Ser) c.154C>T (p.Pro52Ser) c.235C>T (p.Pro79Ser) n.53-226C>T c.163C>T (p.Pro55Ser) c.217-226C>T (n.217-226C>T) c.268C>T (p.Pro90Ser) | |
17 | g.63837463G>C | CA400601488 | SMARCD2 | n.267C>G n.13C>G c.238C>G (p.Pro80Ala) c.42C>G c.196C>G (p.Pro66Ala) c.379C>G (p.Pro127Ala) c.154C>G (p.Pro52Ala) c.235C>G (p.Pro79Ala) n.53-226C>G c.163C>G (p.Pro55Ala) c.217-226C>G (n.217-226C>G) c.268C>G (p.Pro90Ala) | |
17 | g.63837463G>T | CA400601489 | SMARCD2 | n.267C>A n.13C>A c.238C>A (p.Pro80Thr) c.42C>A c.196C>A (p.Pro66Thr) c.379C>A (p.Pro127Thr) c.154C>A (p.Pro52Thr) c.235C>A (p.Pro79Thr) n.53-226C>A c.163C>A (p.Pro55Thr) c.217-226C>A (n.217-226C>A) c.268C>A (p.Pro90Thr) | |
17 | g.63837464A>C | CA501202292 | SMARCD2 | n.266T>G n.12T>G c.237T>G (p.Pro79=) c.41T>G c.195T>G (p.Pro65=) c.378T>G (p.Pro126=) c.153T>G (p.Pro51=) c.234T>G (p.Pro78=) n.53-227T>G c.162T>G (p.Pro54=) c.217-227T>G (n.217-227T>G) c.267T>G (p.Pro89=) | |
17 | g.63837464A>G | CA501202294 | SMARCD2 | n.266T>C n.12T>C c.237T>C (p.Pro79=) c.41T>C c.195T>C (p.Pro65=) c.378T>C (p.Pro126=) c.153T>C (p.Pro51=) c.234T>C (p.Pro78=) n.53-227T>C c.162T>C (p.Pro54=) c.217-227T>C (n.217-227T>C) c.267T>C (p.Pro89=) | gnomAD v4 |
17 | g.63837464A>T | CA501202295 | SMARCD2 | n.266T>A n.12T>A c.237T>A (p.Pro79=) c.41T>A c.195T>A (p.Pro65=) c.378T>A (p.Pro126=) c.153T>A (p.Pro51=) c.234T>A (p.Pro78=) n.53-227T>A c.162T>A (p.Pro54=) c.217-227T>A (n.217-227T>A) c.267T>A (p.Pro89=) | |
17 | g.63837465G>A | CA292954714 | SMARCD2 | n.265C>T n.11C>T c.236C>T (p.Pro79Leu) c.40C>T c.194C>T (p.Pro65Leu) c.377C>T (p.Pro126Leu) c.152C>T (p.Pro51Leu) c.233C>T (p.Pro78Leu) n.53-228C>T c.161C>T (p.Pro54Leu) c.217-228C>T (n.217-228C>T) c.266C>T (p.Pro89Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63837465G>C | CA400601490 | SMARCD2 | n.265C>G n.11C>G c.236C>G (p.Pro79Arg) c.40C>G c.194C>G (p.Pro65Arg) c.377C>G (p.Pro126Arg) c.152C>G (p.Pro51Arg) c.233C>G (p.Pro78Arg) n.53-228C>G c.161C>G (p.Pro54Arg) c.217-228C>G (n.217-228C>G) c.266C>G (p.Pro89Arg) | |
17 | g.63837465G= | CA2270105548 | SMARCD2 | n.265C= n.11C= c.236C= (p.Pro79=) c.40C= c.194C= (p.Pro65=) c.377C= (p.Pro126=) c.152C= (p.Pro51=) c.233C= (p.Pro78=) n.53-228C= c.161C= (p.Pro54=) c.217-228C= (n.217-228C=) c.266C= (p.Pro89=) | |
17 | g.63837465G>T | CA400601491 | SMARCD2 | n.265C>A n.11C>A c.236C>A (p.Pro79His) c.40C>A c.194C>A (p.Pro65His) c.377C>A (p.Pro126His) c.152C>A (p.Pro51His) c.233C>A (p.Pro78His) n.53-228C>A c.161C>A (p.Pro54His) c.217-228C>A (n.217-228C>A) c.266C>A (p.Pro89His) | |
17 | g.63837466G>A | CA400601492 | SMARCD2 | n.264C>T n.10C>T c.235C>T (p.Pro79Ser) c.39C>T c.193C>T (p.Pro65Ser) c.376C>T (p.Pro126Ser) c.151C>T (p.Pro51Ser) c.232C>T (p.Pro78Ser) n.53-229C>T c.160C>T (p.Pro54Ser) c.217-229C>T (n.217-229C>T) c.265C>T (p.Pro89Ser) | |
17 | g.63837466G>C | CA400601493 | SMARCD2 | n.264C>G n.10C>G c.235C>G (p.Pro79Ala) c.39C>G c.193C>G (p.Pro65Ala) c.376C>G (p.Pro126Ala) c.151C>G (p.Pro51Ala) c.232C>G (p.Pro78Ala) n.53-229C>G c.160C>G (p.Pro54Ala) c.217-229C>G (n.217-229C>G) c.265C>G (p.Pro89Ala) | |
17 | g.63837466G>T | CA400601494 | SMARCD2 | n.264C>A n.10C>A c.235C>A (p.Pro79Thr) c.39C>A c.193C>A (p.Pro65Thr) c.376C>A (p.Pro126Thr) c.151C>A (p.Pro51Thr) c.232C>A (p.Pro78Thr) n.53-229C>A c.160C>A (p.Pro54Thr) c.217-229C>A (n.217-229C>A) c.265C>A (p.Pro89Thr) | |
17 | g.63837467C>A | CA400601495 | SMARCD2 | n.263G>T n.9G>T c.234G>T (p.Gln78His) c.38G>T c.192G>T (p.Gln64His) c.375G>T (p.Gln125His) c.150G>T (p.Gln50His) c.231G>T (p.Gln77His) n.53-230G>T c.159G>T (p.Gln53His) c.217-230G>T (n.217-230G>T) c.264G>T (p.Gln88His) | gnomAD v4 |
17 | g.63837467C>G | CA400601496 | SMARCD2 | n.263G>C n.9G>C c.234G>C (p.Gln78His) c.38G>C c.192G>C (p.Gln64His) c.375G>C (p.Gln125His) c.150G>C (p.Gln50His) c.231G>C (p.Gln77His) n.53-230G>C c.159G>C (p.Gln53His) c.217-230G>C (n.217-230G>C) c.264G>C (p.Gln88His) | |
17 | g.63837467C>T | CA501202297 | SMARCD2 | n.263G>A n.9G>A c.234G>A (p.Gln78=) c.38G>A c.192G>A (p.Gln64=) c.375G>A (p.Gln125=) c.150G>A (p.Gln50=) c.231G>A (p.Gln77=) n.53-230G>A c.159G>A (p.Gln53=) c.217-230G>A (n.217-230G>A) c.264G>A (p.Gln88=) | |
17 | g.63837468T>A | CA400601497 | SMARCD2 | n.262A>T n.8A>T c.233A>T (p.Gln78Leu) c.37A>T c.191A>T (p.Gln64Leu) c.374A>T (p.Gln125Leu) c.149A>T (p.Gln50Leu) c.230A>T (p.Gln77Leu) n.53-231A>T c.158A>T (p.Gln53Leu) c.217-231A>T (n.217-231A>T) c.263A>T (p.Gln88Leu) | |
17 | g.63837468T>C | CA400601499 | SMARCD2 | n.262A>G n.8A>G c.233A>G (p.Gln78Arg) c.37A>G c.191A>G (p.Gln64Arg) c.374A>G (p.Gln125Arg) c.149A>G (p.Gln50Arg) c.230A>G (p.Gln77Arg) n.53-231A>G c.158A>G (p.Gln53Arg) c.217-231A>G (n.217-231A>G) c.263A>G (p.Gln88Arg) | |
17 | g.63837468T>G | CA400601498 | SMARCD2 | n.262A>C n.8A>C c.233A>C (p.Gln78Pro) c.37A>C c.191A>C (p.Gln64Pro) c.374A>C (p.Gln125Pro) c.149A>C (p.Gln50Pro) c.230A>C (p.Gln77Pro) n.53-231A>C c.158A>C (p.Gln53Pro) c.217-231A>C (n.217-231A>C) c.263A>C (p.Gln88Pro) | |
17 | g.63837469G>A | CA400601500 | SMARCD2 | n.261C>T n.7C>T c.232C>T (p.Gln78Ter) c.36C>T c.190C>T (p.Gln64Ter) c.373C>T (p.Gln125Ter) c.148C>T (p.Gln50Ter) c.229C>T (p.Gln77Ter) n.53-232C>T c.157C>T (p.Gln53Ter) c.217-232C>T (n.217-232C>T) c.262C>T (p.Gln88Ter) | |
17 | g.63837469G>C | CA400601501 | SMARCD2 | n.261C>G n.7C>G c.232C>G (p.Gln78Glu) c.36C>G c.190C>G (p.Gln64Glu) c.373C>G (p.Gln125Glu) c.148C>G (p.Gln50Glu) c.229C>G (p.Gln77Glu) n.53-232C>G c.157C>G (p.Gln53Glu) c.217-232C>G (n.217-232C>G) c.262C>G (p.Gln88Glu) | |
17 | g.63837469G>T | CA400601502 | SMARCD2 | n.261C>A n.7C>A c.232C>A (p.Gln78Lys) c.36C>A c.190C>A (p.Gln64Lys) c.373C>A (p.Gln125Lys) c.148C>A (p.Gln50Lys) c.229C>A (p.Gln77Lys) n.53-232C>A c.157C>A (p.Gln53Lys) c.217-232C>A (n.217-232C>A) c.262C>A (p.Gln88Lys) | |
17 | g.63837470_63837471insCCAGC | CA2842454463 | SMARCD2 | n.261_262insTGGGC n.7_8insTGGGC c.232_233insTGGGC (p.Gln78LeufsTer13) c.36_37insTGGGC c.190_191insTGGGC (p.Gln64LeufsTer13) c.373_374insTGGGC (p.Gln125LeufsTer13) c.148_149insTGGGC (p.Gln50LeufsTer13) c.229_230insTGGGC (p.Gln77LeufsTer13) n.53-232_53-231insTGGGC c.157_158insTGGGC (p.Gln53LeufsTer13) c.217-232_217-231insTGGGC (n.217-232_217-231insTGGGC) c.262_263insTGGGC (p.Gln88LeufsTer13) | |
17 | g.63837470C>A | CA501202299 | SMARCD2 | n.260G>T n.6G>T c.231G>T (p.Ala77=) c.35G>T c.189G>T (p.Ala63=) c.372G>T (p.Ala124=) c.147G>T (p.Ala49=) c.228G>T (p.Ala76=) n.53-233G>T c.156G>T (p.Ala52=) c.217-233G>T (n.217-233G>T) c.261G>T (p.Ala87=) | gnomAD v4 |
17 | g.63837470C= | CA2270105549 | SMARCD2 | n.260G= n.6G= c.231G= (p.Ala77=) c.35G= c.189G= (p.Ala63=) c.372G= (p.Ala124=) c.147G= (p.Ala49=) c.228G= (p.Ala76=) n.53-233G= c.156G= (p.Ala52=) c.217-233G= (n.217-233G=) c.261G= (p.Ala87=) | |
17 | g.63837470C>G | CA501202301 | SMARCD2 | n.260G>C n.6G>C c.231G>C (p.Ala77=) c.35G>C c.189G>C (p.Ala63=) c.372G>C (p.Ala124=) c.147G>C (p.Ala49=) c.228G>C (p.Ala76=) n.53-233G>C c.156G>C (p.Ala52=) c.217-233G>C (n.217-233G>C) c.261G>C (p.Ala87=) | ClinVar dbSNP |
17 | g.63837470C>T | CA8706517 | SMARCD2 | n.260G>A n.6G>A c.231G>A (p.Ala77=) c.35G>A c.189G>A (p.Ala63=) c.372G>A (p.Ala124=) c.147G>A (p.Ala49=) c.228G>A (p.Ala76=) n.53-233G>A c.156G>A (p.Ala52=) c.217-233G>A (n.217-233G>A) c.261G>A (p.Ala87=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.63837471G>A | CA8706518 | SMARCD2 | n.259C>T n.5C>T c.230C>T (p.Ala77Val) c.34C>T c.188C>T (p.Ala63Val) c.371C>T (p.Ala124Val) c.146C>T (p.Ala49Val) c.227C>T (p.Ala76Val) n.53-234C>T c.155C>T (p.Ala52Val) c.217-234C>T (n.217-234C>T) c.260C>T (p.Ala87Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63837471G>C | CA400601503 | SMARCD2 | n.259C>G n.5C>G c.230C>G (p.Ala77Gly) c.34C>G c.188C>G (p.Ala63Gly) c.371C>G (p.Ala124Gly) c.146C>G (p.Ala49Gly) c.227C>G (p.Ala76Gly) n.53-234C>G c.155C>G (p.Ala52Gly) c.217-234C>G (n.217-234C>G) c.260C>G (p.Ala87Gly) | |
17 | g.63837471G= | CA2270105550 | SMARCD2 | n.259C= n.5C= c.230C= (p.Ala77=) c.34C= c.188C= (p.Ala63=) c.371C= (p.Ala124=) c.146C= (p.Ala49=) c.227C= (p.Ala76=) n.53-234C= c.155C= (p.Ala52=) c.217-234C= (n.217-234C=) c.260C= (p.Ala87=) | |
17 | g.63837471G>T | CA400601504 | SMARCD2 | n.259C>A n.5C>A c.230C>A (p.Ala77Glu) c.34C>A c.188C>A (p.Ala63Glu) c.371C>A (p.Ala124Glu) c.146C>A (p.Ala49Glu) c.227C>A (p.Ala76Glu) n.53-234C>A c.155C>A (p.Ala52Glu) c.217-234C>A (n.217-234C>A) c.260C>A (p.Ala87Glu) | |
17 | g.63837472C>A | CA400601505 | SMARCD2 | n.258G>T n.4G>T c.229G>T (p.Ala77Ser) c.33G>T c.187G>T (p.Ala63Ser) c.370G>T (p.Ala124Ser) c.145G>T (p.Ala49Ser) c.226G>T (p.Ala76Ser) n.53-235G>T c.154G>T (p.Ala52Ser) c.217-235G>T (n.217-235G>T) c.259G>T (p.Ala87Ser) | gnomAD v4 |
17 | g.63837472C>G | CA400601506 | SMARCD2 | n.258G>C n.4G>C c.229G>C (p.Ala77Pro) c.33G>C c.187G>C (p.Ala63Pro) c.370G>C (p.Ala124Pro) c.145G>C (p.Ala49Pro) c.226G>C (p.Ala76Pro) n.53-235G>C c.154G>C (p.Ala52Pro) c.217-235G>C (n.217-235G>C) c.259G>C (p.Ala87Pro) | |
17 | g.63837472C>T | CA400601507 | SMARCD2 | n.258G>A n.4G>A c.229G>A (p.Ala77Thr) c.33G>A c.187G>A (p.Ala63Thr) c.370G>A (p.Ala124Thr) c.145G>A (p.Ala49Thr) c.226G>A (p.Ala76Thr) n.53-235G>A c.154G>A (p.Ala52Thr) c.217-235G>A (n.217-235G>A) c.259G>A (p.Ala87Thr) | |
17 | g.63837473C>A | CA400601508 | SMARCD2 | n.257G>T n.3G>T c.228G>T (p.Gln76His) c.32G>T c.186G>T (p.Gln62His) c.369G>T (p.Gln123His) c.144G>T (p.Gln48His) c.225G>T (p.Gln75His) n.53-236G>T c.153G>T (p.Gln51His) c.217-236G>T (n.217-236G>T) c.258G>T (p.Gln86His) | |
17 | g.63837473C>G | CA400601509 | SMARCD2 | n.257G>C n.3G>C c.228G>C (p.Gln76His) c.32G>C c.186G>C (p.Gln62His) c.369G>C (p.Gln123His) c.144G>C (p.Gln48His) c.225G>C (p.Gln75His) n.53-236G>C c.153G>C (p.Gln51His) c.217-236G>C (n.217-236G>C) c.258G>C (p.Gln86His) | |
17 | g.63837473C>T | CA501202306 | SMARCD2 | n.257G>A n.3G>A c.228G>A (p.Gln76=) c.32G>A c.186G>A (p.Gln62=) c.369G>A (p.Gln123=) c.144G>A (p.Gln48=) c.225G>A (p.Gln75=) n.53-236G>A c.153G>A (p.Gln51=) c.217-236G>A (n.217-236G>A) c.258G>A (p.Gln86=) | |
17 | g.63837474T>A | CA400601512 | SMARCD2 | n.256A>T n.2A>T c.227A>T (p.Gln76Leu) c.31A>T c.185A>T (p.Gln62Leu) c.368A>T (p.Gln123Leu) c.143A>T (p.Gln48Leu) c.224A>T (p.Gln75Leu) n.53-237A>T c.152A>T (p.Gln51Leu) c.217-237A>T (n.217-237A>T) c.257A>T (p.Gln86Leu) | |
17 | g.63837474T>C | CA400601511 | SMARCD2 | n.256A>G n.2A>G c.227A>G (p.Gln76Arg) c.31A>G c.185A>G (p.Gln62Arg) c.368A>G (p.Gln123Arg) c.143A>G (p.Gln48Arg) c.224A>G (p.Gln75Arg) n.53-237A>G c.152A>G (p.Gln51Arg) c.217-237A>G (n.217-237A>G) c.257A>G (p.Gln86Arg) | |
17 | g.63837474T>G | CA400601510 | SMARCD2 | n.256A>C n.2A>C c.227A>C (p.Gln76Pro) c.31A>C c.185A>C (p.Gln62Pro) c.368A>C (p.Gln123Pro) c.143A>C (p.Gln48Pro) c.224A>C (p.Gln75Pro) n.53-237A>C c.152A>C (p.Gln51Pro) c.217-237A>C (n.217-237A>C) c.257A>C (p.Gln86Pro) | |
17 | g.63837475G>A | CA400601513 | SMARCD2 | n.255C>T n.1C>T c.226C>T (p.Gln76Ter) c.30C>T c.184C>T (p.Gln62Ter) c.367C>T (p.Gln123Ter) c.142C>T (p.Gln48Ter) c.223C>T (p.Gln75Ter) n.53-238C>T c.151C>T (p.Gln51Ter) c.217-238C>T (n.217-238C>T) c.256C>T (p.Gln86Ter) | |
17 | g.63837475G>C | CA400601515 | SMARCD2 | n.255C>G n.1C>G c.226C>G (p.Gln76Glu) c.30C>G c.184C>G (p.Gln62Glu) c.367C>G (p.Gln123Glu) c.142C>G (p.Gln48Glu) c.223C>G (p.Gln75Glu) n.53-238C>G c.151C>G (p.Gln51Glu) c.217-238C>G (n.217-238C>G) c.256C>G (p.Gln86Glu) | |
17 | g.63837475G>T | CA400601514 | SMARCD2 | n.255C>A n.1C>A c.226C>A (p.Gln76Lys) c.30C>A c.184C>A (p.Gln62Lys) c.367C>A (p.Gln123Lys) c.142C>A (p.Gln48Lys) c.223C>A (p.Gln75Lys) n.53-238C>A c.151C>A (p.Gln51Lys) c.217-238C>A (n.217-238C>A) c.256C>A (p.Gln86Lys) | gnomAD v4 |
17 | g.63837478dup | CA2842454464 | SMARCD2 | n.255dup c.226dup (p.Gln76ProfsTer21) c.30dup c.184dup (p.Gln62ProfsTer21) c.367dup (p.Gln123ProfsTer21) c.142dup (p.Gln48ProfsTer21) c.223dup (p.Gln75ProfsTer21) n.53-238dup c.151dup (p.Gln51ProfsTer21) c.217-238dup (n.217-238dup) c.256dup (p.Gln86ProfsTer21) | |
17 | g.63837478del | CA2639301695 | SMARCD2 | n.255del c.226del (p.Gln76ArgfsTer13) c.30del c.184del (p.Gln62ArgfsTer13) c.367del (p.Gln123ArgfsTer13) c.142del (p.Gln48ArgfsTer13) c.223del (p.Gln75ArgfsTer13) n.53-238del c.151del (p.Gln51ArgfsTer13) c.217-238del (n.217-238del) c.256del (p.Gln86ArgfsTer13) | gnomAD v4 |
17 | g.63837476G>A | CA501202307 | SMARCD2 | n.254C>T c.225C>T (p.Pro75=) c.29C>T c.183C>T (p.Pro61=) c.366C>T (p.Pro122=) c.141C>T (p.Pro47=) c.222C>T (p.Pro74=) n.53-239C>T c.150C>T (p.Pro50=) c.217-239C>T (n.217-239C>T) c.255C>T (p.Pro85=) | |
17 | g.63837476G>C | CA501202308 | SMARCD2 | n.254C>G c.225C>G (p.Pro75=) c.29C>G c.183C>G (p.Pro61=) c.366C>G (p.Pro122=) c.141C>G (p.Pro47=) c.222C>G (p.Pro74=) n.53-239C>G c.150C>G (p.Pro50=) c.217-239C>G (n.217-239C>G) c.255C>G (p.Pro85=) | |
17 | g.63837476G>T | CA501202309 | SMARCD2 | n.254C>A c.225C>A (p.Pro75=) c.29C>A c.183C>A (p.Pro61=) c.366C>A (p.Pro122=) c.141C>A (p.Pro47=) c.222C>A (p.Pro74=) n.53-239C>A c.150C>A (p.Pro50=) c.217-239C>A (n.217-239C>A) c.255C>A (p.Pro85=) | |
17 | g.63837477G>A | CA292954735 | SMARCD2 | n.253C>T c.224C>T (p.Pro75Leu) c.28C>T c.182C>T (p.Pro61Leu) c.365C>T (p.Pro122Leu) c.140C>T (p.Pro47Leu) c.221C>T (p.Pro74Leu) n.53-240C>T c.149C>T (p.Pro50Leu) c.217-240C>T (n.217-240C>T) c.254C>T (p.Pro85Leu) | dbSNP |
17 | g.63837477G>C | CA8706519 | SMARCD2 | n.253C>G c.224C>G (p.Pro75Arg) c.28C>G c.182C>G (p.Pro61Arg) c.365C>G (p.Pro122Arg) c.140C>G (p.Pro47Arg) c.221C>G (p.Pro74Arg) n.53-240C>G c.149C>G (p.Pro50Arg) c.217-240C>G (n.217-240C>G) c.254C>G (p.Pro85Arg) | dbSNP ExAC gnomAD v2 |
17 | g.63837477G= | CA2270105551 | SMARCD2 | n.253C= c.224C= (p.Pro75=) c.28C= c.182C= (p.Pro61=) c.365C= (p.Pro122=) c.140C= (p.Pro47=) c.221C= (p.Pro74=) n.53-240C= c.149C= (p.Pro50=) c.217-240C= (n.217-240C=) c.254C= (p.Pro85=) | |
17 | g.63837477G>T | CA400601516 | SMARCD2 | n.253C>A c.224C>A (p.Pro75His) c.28C>A c.182C>A (p.Pro61His) c.365C>A (p.Pro122His) c.140C>A (p.Pro47His) c.221C>A (p.Pro74His) n.53-240C>A c.149C>A (p.Pro50His) c.217-240C>A (n.217-240C>A) c.254C>A (p.Pro85His) | |
17 | g.63837478G>A | CA400601517 | SMARCD2 | n.252C>T c.223C>T (p.Pro75Ser) c.27C>T c.181C>T (p.Pro61Ser) c.364C>T (p.Pro122Ser) c.139C>T (p.Pro47Ser) c.220C>T (p.Pro74Ser) n.53-241C>T c.148C>T (p.Pro50Ser) c.217-241C>T (n.217-241C>T) c.253C>T (p.Pro85Ser) | gnomAD v4 |
17 | g.63837478G>C | CA400601518 | SMARCD2 | n.252C>G c.223C>G (p.Pro75Ala) c.27C>G c.181C>G (p.Pro61Ala) c.364C>G (p.Pro122Ala) c.139C>G (p.Pro47Ala) c.220C>G (p.Pro74Ala) n.53-241C>G c.148C>G (p.Pro50Ala) c.217-241C>G (n.217-241C>G) c.253C>G (p.Pro85Ala) | |
17 | g.63837478G= | CA2270105552 | SMARCD2 | n.252C= c.223C= (p.Pro75=) c.27C= c.181C= (p.Pro61=) c.364C= (p.Pro122=) c.139C= (p.Pro47=) c.220C= (p.Pro74=) n.53-241C= c.148C= (p.Pro50=) c.217-241C= (n.217-241C=) c.253C= (p.Pro85=) | |
17 | g.63837478G>T | CA400601519 | SMARCD2 | n.252C>A c.223C>A (p.Pro75Thr) c.27C>A c.181C>A (p.Pro61Thr) c.364C>A (p.Pro122Thr) c.139C>A (p.Pro47Thr) c.220C>A (p.Pro74Thr) n.53-241C>A c.148C>A (p.Pro50Thr) c.217-241C>A (n.217-241C>A) c.253C>A (p.Pro85Thr) | gnomAD v4 |
17 | g.63837479C>A | CA501202312 | SMARCD2 | n.251G>T c.222G>T (p.Val74=) c.26G>T c.180G>T (p.Val60=) c.363G>T (p.Val121=) c.138G>T (p.Val46=) c.219G>T (p.Val73=) n.53-242G>T c.147G>T (p.Val49=) c.217-242G>T (n.217-242G>T) c.252G>T (p.Val84=) | |
17 | g.63837479C= | CA2270105554 | SMARCD2 | n.251G= c.222G= (p.Val74=) c.26G= c.180G= (p.Val60=) c.363G= (p.Val121=) c.138G= (p.Val46=) c.219G= (p.Val73=) n.53-242G= c.147G= (p.Val49=) c.217-242G= (n.217-242G=) c.252G= (p.Val84=) | |
17 | g.63837479C>G | CA501202313 | SMARCD2 | n.251G>C c.222G>C (p.Val74=) c.26G>C c.180G>C (p.Val60=) c.363G>C (p.Val121=) c.138G>C (p.Val46=) c.219G>C (p.Val73=) n.53-242G>C c.147G>C (p.Val49=) c.217-242G>C (n.217-242G>C) c.252G>C (p.Val84=) | |
17 | g.63837479C>T | CA501202315 | SMARCD2 | n.251G>A c.222G>A (p.Val74=) c.26G>A c.180G>A (p.Val60=) c.363G>A (p.Val121=) c.138G>A (p.Val46=) c.219G>A (p.Val73=) n.53-242G>A c.147G>A (p.Val49=) c.217-242G>A (n.217-242G>A) c.252G>A (p.Val84=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63837479_63837482dup | CA2270105553 | SMARCD2 | n.248_251dup c.219_222dup (p.Pro75CysfsTer23) c.23_26dup c.177_180dup (p.Pro61CysfsTer23) c.360_363dup (p.Pro122CysfsTer23) c.135_138dup (p.Pro47CysfsTer23) c.216_219dup (p.Pro74CysfsTer23) n.53-245_53-242dup c.144_147dup (p.Pro50CysfsTer23) c.217-245_217-242dup (n.217-245_217-242dup) c.249_252dup (p.Pro85CysfsTer23) | dbSNP gnomAD v4 |
17 | g.63837480A>C | CA400601522 | SMARCD2 | n.250T>G c.221T>G (p.Val74Gly) c.25T>G c.179T>G (p.Val60Gly) c.362T>G (p.Val121Gly) c.137T>G (p.Val46Gly) c.218T>G (p.Val73Gly) n.53-243T>G c.146T>G (p.Val49Gly) c.217-243T>G (n.217-243T>G) c.251T>G (p.Val84Gly) | |
17 | g.63837480A>G | CA400601521 | SMARCD2 | n.250T>C c.221T>C (p.Val74Ala) c.25T>C c.179T>C (p.Val60Ala) c.362T>C (p.Val121Ala) c.137T>C (p.Val46Ala) c.218T>C (p.Val73Ala) n.53-243T>C c.146T>C (p.Val49Ala) c.217-243T>C (n.217-243T>C) c.251T>C (p.Val84Ala) | |
17 | g.63837480A>T | CA400601520 | SMARCD2 | n.250T>A c.221T>A (p.Val74Glu) c.25T>A c.179T>A (p.Val60Glu) c.362T>A (p.Val121Glu) c.137T>A (p.Val46Glu) c.218T>A (p.Val73Glu) n.53-243T>A c.146T>A (p.Val49Glu) c.217-243T>A (n.217-243T>A) c.251T>A (p.Val84Glu) | |
17 | g.63837481C>A | CA400601523 | SMARCD2 | n.249G>T c.220G>T (p.Val74Leu) c.24G>T c.178G>T (p.Val60Leu) c.361G>T (p.Val121Leu) c.136G>T (p.Val46Leu) c.217G>T (p.Val73Leu) n.53-244G>T c.145G>T (p.Val49Leu) c.217-244G>T (n.217-244G>T) c.250G>T (p.Val84Leu) | gnomAD v4 |
17 | g.63837481C= | CA2270105555 | SMARCD2 | n.249G= c.220G= (p.Val74=) c.24G= c.178G= (p.Val60=) c.361G= (p.Val121=) c.136G= (p.Val46=) c.217G= (p.Val73=) n.53-244G= c.145G= (p.Val49=) c.217-244G= (n.217-244G=) c.250G= (p.Val84=) | |
17 | g.63837481C>G | CA400601524 | SMARCD2 | n.249G>C c.220G>C (p.Val74Leu) c.24G>C c.178G>C (p.Val60Leu) c.361G>C (p.Val121Leu) c.136G>C (p.Val46Leu) c.217G>C (p.Val73Leu) n.53-244G>C c.145G>C (p.Val49Leu) c.217-244G>C (n.217-244G>C) c.250G>C (p.Val84Leu) | |
17 | g.63837481C>T | CA8706520 | SMARCD2 | n.249G>A c.220G>A (p.Val74Met) c.24G>A c.178G>A (p.Val60Met) c.361G>A (p.Val121Met) c.136G>A (p.Val46Met) c.217G>A (p.Val73Met) n.53-244G>A c.145G>A (p.Val49Met) c.217-244G>A (n.217-244G>A) c.250G>A (p.Val84Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63837482A>C | CA501202316 | SMARCD2 | n.248T>G c.219T>G (p.Leu73=) c.23T>G c.177T>G (p.Leu59=) c.360T>G (p.Leu120=) c.135T>G (p.Leu45=) c.216T>G (p.Leu72=) n.53-245T>G c.144T>G (p.Leu48=) c.217-245T>G (n.217-245T>G) c.249T>G (p.Leu83=) | |
17 | g.63837482A>G | CA501202320 | SMARCD2 | n.248T>C c.219T>C (p.Leu73=) c.23T>C c.177T>C (p.Leu59=) c.360T>C (p.Leu120=) c.135T>C (p.Leu45=) c.216T>C (p.Leu72=) n.53-245T>C c.144T>C (p.Leu48=) c.217-245T>C (n.217-245T>C) c.249T>C (p.Leu83=) | |
17 | g.63837482A>T | CA501202318 | SMARCD2 | n.248T>A c.219T>A (p.Leu73=) c.23T>A c.177T>A (p.Leu59=) c.360T>A (p.Leu120=) c.135T>A (p.Leu45=) c.216T>A (p.Leu72=) n.53-245T>A c.144T>A (p.Leu48=) c.217-245T>A (n.217-245T>A) c.249T>A (p.Leu83=) | |
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) |