| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63837439A= | CA2270105531 | SMARCD2 | n.291T= n.35+2T= c.260+2T= (n.260+2T=) c.64+2T= c.218+2T= (n.218+2T=) c.401+2T= (n.401+2T=) c.176+2T= (n.176+2T=) c.257+2T= (n.257+2T=) n.53-202T= c.185+2T= (n.185+2T=) c.217-202T= (n.217-202T=) c.290+2T= (n.290+2T=) | |
| 17 | g.63837439A>C | CA400601441 | SMARCD2 | n.291T>G n.35+2T>G c.260+2T>G (n.260+2T>G) c.64+2T>G c.218+2T>G (n.218+2T>G) c.401+2T>G (n.401+2T>G) c.176+2T>G (n.176+2T>G) c.257+2T>G (n.257+2T>G) n.53-202T>G c.185+2T>G (n.185+2T>G) c.217-202T>G (n.217-202T>G) c.290+2T>G (n.290+2T>G) | |
| 17 | g.63837439A>G | CA16040623 | SMARCD2 | n.291T>C n.35+2T>C c.260+2T>C (n.260+2T>C) c.64+2T>C c.218+2T>C (n.218+2T>C) c.401+2T>C (n.401+2T>C) c.176+2T>C (n.176+2T>C) c.257+2T>C (n.257+2T>C) n.53-202T>C c.185+2T>C (n.185+2T>C) c.217-202T>C (n.217-202T>C) c.290+2T>C (n.290+2T>C) | ClinVar dbSNP |
| 17 | g.63837439A>T | CA400601442 | SMARCD2 | n.291T>A n.35+2T>A c.260+2T>A (n.260+2T>A) c.64+2T>A c.218+2T>A (n.218+2T>A) c.401+2T>A (n.401+2T>A) c.176+2T>A (n.176+2T>A) c.257+2T>A (n.257+2T>A) n.53-202T>A c.185+2T>A (n.185+2T>A) c.217-202T>A (n.217-202T>A) c.290+2T>A (n.290+2T>A) | |
| 17 | g.63837439_63837440delinsAC | CA2270105532 | SMARCD2 | n.290_291delinsGT n.35+1_35+2delinsGT c.260+1_260+2delinsGT (n.260+1_260+2delinsGT) c.64+1_64+2delinsGT c.218+1_218+2delinsGT (n.218+1_218+2delinsGT) c.401+1_401+2delinsGT (n.401+1_401+2delinsGT) c.176+1_176+2delinsGT (n.176+1_176+2delinsGT) c.257+1_257+2delinsGT (n.257+1_257+2delinsGT) n.53-203_53-202delinsGT c.185+1_185+2delinsGT (n.185+1_185+2delinsGT) c.217-203_217-202delinsGT (n.217-203_217-202delinsGT) c.290+1_290+2delinsGT (n.290+1_290+2delinsGT) | |
| 17 | g.63837440C>A | CA400601443 | SMARCD2 | n.290G>T n.35+1G>T c.260+1G>T (n.260+1G>T) c.64+1G>T c.218+1G>T (n.218+1G>T) c.401+1G>T (n.401+1G>T) c.176+1G>T (n.176+1G>T) c.257+1G>T (n.257+1G>T) n.53-203G>T c.185+1G>T (n.185+1G>T) c.217-203G>T (n.217-203G>T) c.290+1G>T (n.290+1G>T) | |
| 17 | g.63837440C>G | CA400601445 | SMARCD2 | n.290G>C n.35+1G>C c.260+1G>C (n.260+1G>C) c.64+1G>C c.218+1G>C (n.218+1G>C) c.401+1G>C (n.401+1G>C) c.176+1G>C (n.176+1G>C) c.257+1G>C (n.257+1G>C) n.53-203G>C c.185+1G>C (n.185+1G>C) c.217-203G>C (n.217-203G>C) c.290+1G>C (n.290+1G>C) | |
| 17 | g.63837440C>T | CA400601444 | SMARCD2 | n.290G>A n.35+1G>A c.260+1G>A (n.260+1G>A) c.64+1G>A c.218+1G>A (n.218+1G>A) c.401+1G>A (n.401+1G>A) c.176+1G>A (n.176+1G>A) c.257+1G>A (n.257+1G>A) n.53-203G>A c.185+1G>A (n.185+1G>A) c.217-203G>A (n.217-203G>A) c.290+1G>A (n.290+1G>A) | gnomAD v4 |
| 17 | g.63837444del | CA919876299 | SMARCD2 | n.290del n.35+1del c.260+1del c.64+1del c.218+1del c.401+1del c.176+1del c.257+1del n.53-203del c.185+1del c.217-203del (n.217-203del) c.290+1del | dbSNP gnomAD v4 |
| 17 | g.63837441C>A | CA400601446 | SMARCD2 | n.289G>T n.35G>T c.260G>T (p.Gly87Val) c.64G>T c.218G>T (p.Gly73Val) c.401G>T (p.Gly134Val) c.176G>T (p.Gly59Val) c.257G>T (p.Gly86Val) n.53-204G>T c.185G>T (p.Gly62Val) c.217-204G>T (n.217-204G>T) c.290G>T (p.Gly97Val) | |
| 17 | g.63837441C>G | CA400601447 | SMARCD2 | n.289G>C n.35G>C c.260G>C (p.Gly87Ala) c.64G>C c.218G>C (p.Gly73Ala) c.401G>C (p.Gly134Ala) c.176G>C (p.Gly59Ala) c.257G>C (p.Gly86Ala) n.53-204G>C c.185G>C (p.Gly62Ala) c.217-204G>C (n.217-204G>C) c.290G>C (p.Gly97Ala) | COSMIC COSMIC COSMIC |
| 17 | g.63837441C>T | CA400601448 | SMARCD2 | n.289G>A n.35G>A c.260G>A (p.Gly87Glu) c.64G>A c.218G>A (p.Gly73Glu) c.401G>A (p.Gly134Glu) c.176G>A (p.Gly59Glu) c.257G>A (p.Gly86Glu) n.53-204G>A c.185G>A (p.Gly62Glu) c.217-204G>A (n.217-204G>A) c.290G>A (p.Gly97Glu) | gnomAD v4 |
| 17 | g.63837442C>A | CA400601449 | SMARCD2 | n.288G>T n.34G>T c.259G>T (p.Gly87Trp) c.63G>T c.217G>T (p.Gly73Trp) c.400G>T (p.Gly134Trp) c.175G>T (p.Gly59Trp) c.256G>T (p.Gly86Trp) n.53-205G>T c.184G>T (p.Gly62Trp) c.217-205G>T (n.217-205G>T) c.289G>T (p.Gly97Trp) | gnomAD v4 |
| 17 | g.63837442C= | CA2270105533 | SMARCD2 | n.288G= n.34G= c.259G= (p.Gly87=) c.63G= c.217G= (p.Gly73=) c.400G= (p.Gly134=) c.175G= (p.Gly59=) c.256G= (p.Gly86=) n.53-205G= c.184G= (p.Gly62=) c.217-205G= (n.217-205G=) c.289G= (p.Gly97=) | |
| 17 | g.63837442C>G | CA8706511 | SMARCD2 | n.288G>C n.34G>C c.259G>C (p.Gly87Arg) c.63G>C c.217G>C (p.Gly73Arg) c.400G>C (p.Gly134Arg) c.175G>C (p.Gly59Arg) c.256G>C (p.Gly86Arg) n.53-205G>C c.184G>C (p.Gly62Arg) c.217-205G>C (n.217-205G>C) c.289G>C (p.Gly97Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63837442C>T | CA8706510 | SMARCD2 | n.288G>A n.34G>A c.259G>A (p.Gly87Arg) c.63G>A c.217G>A (p.Gly73Arg) c.400G>A (p.Gly134Arg) c.175G>A (p.Gly59Arg) c.256G>A (p.Gly86Arg) n.53-205G>A c.184G>A (p.Gly62Arg) c.217-205G>A (n.217-205G>A) c.289G>A (p.Gly97Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63837443C>A | CA501202266 | SMARCD2 | n.287G>T n.33G>T c.258G>T (p.Arg86=) c.62G>T c.216G>T (p.Arg72=) c.399G>T (p.Arg133=) c.174G>T (p.Arg58=) c.255G>T (p.Arg85=) n.53-206G>T c.183G>T (p.Arg61=) c.217-206G>T (n.217-206G>T) c.288G>T (p.Arg96=) | |
| 17 | g.63837443C= | CA2270105534 | SMARCD2 | n.287G= n.33G= c.258G= (p.Arg86=) c.62G= c.216G= (p.Arg72=) c.399G= (p.Arg133=) c.174G= (p.Arg58=) c.255G= (p.Arg85=) n.53-206G= c.183G= (p.Arg61=) c.217-206G= (n.217-206G=) c.288G= (p.Arg96=) | |
| 17 | g.63837443C>G | CA501202267 | SMARCD2 | n.287G>C n.33G>C c.258G>C (p.Arg86=) c.62G>C c.216G>C (p.Arg72=) c.399G>C (p.Arg133=) c.174G>C (p.Arg58=) c.255G>C (p.Arg85=) n.53-206G>C c.183G>C (p.Arg61=) c.217-206G>C (n.217-206G>C) c.288G>C (p.Arg96=) | |
| 17 | g.63837443C>T | CA501202268 | SMARCD2 | n.287G>A n.33G>A c.258G>A (p.Arg86=) c.62G>A c.216G>A (p.Arg72=) c.399G>A (p.Arg133=) c.174G>A (p.Arg58=) c.255G>A (p.Arg85=) n.53-206G>A c.183G>A (p.Arg61=) c.217-206G>A (n.217-206G>A) c.288G>A (p.Arg96=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63837444C>A | CA400601450 | SMARCD2 | n.286G>T n.32G>T c.257G>T (p.Arg86Leu) c.61G>T c.215G>T (p.Arg72Leu) c.398G>T (p.Arg133Leu) c.173G>T (p.Arg58Leu) c.254G>T (p.Arg85Leu) n.53-207G>T c.182G>T (p.Arg61Leu) c.217-207G>T (n.217-207G>T) c.287G>T (p.Arg96Leu) | |
| 17 | g.63837444C= | CA2270105535 | SMARCD2 | n.286G= n.32G= c.257G= (p.Arg86=) c.61G= c.215G= (p.Arg72=) c.398G= (p.Arg133=) c.173G= (p.Arg58=) c.254G= (p.Arg85=) n.53-207G= c.182G= (p.Arg61=) c.217-207G= (n.217-207G=) c.287G= (p.Arg96=) | |
| 17 | g.63837444C>G | CA400601451 | SMARCD2 | n.286G>C n.32G>C c.257G>C (p.Arg86Pro) c.61G>C c.215G>C (p.Arg72Pro) c.398G>C (p.Arg133Pro) c.173G>C (p.Arg58Pro) c.254G>C (p.Arg85Pro) n.53-207G>C c.182G>C (p.Arg61Pro) c.217-207G>C (n.217-207G>C) c.287G>C (p.Arg96Pro) | |
| 17 | g.63837444C>T | CA400601452 | SMARCD2 | n.286G>A n.32G>A c.257G>A (p.Arg86Gln) c.61G>A c.215G>A (p.Arg72Gln) c.398G>A (p.Arg133Gln) c.173G>A (p.Arg58Gln) c.254G>A (p.Arg85Gln) n.53-207G>A c.182G>A (p.Arg61Gln) c.217-207G>A (n.217-207G>A) c.287G>A (p.Arg96Gln) | ClinVar dbSNP gnomAD v4 |
| 17 | g.63837445G>A | CA8706512 | SMARCD2 | n.285C>T n.31C>T c.256C>T (p.Arg86Trp) c.60C>T c.214C>T (p.Arg72Trp) c.397C>T (p.Arg133Trp) c.172C>T (p.Arg58Trp) c.253C>T (p.Arg85Trp) n.53-208C>T c.181C>T (p.Arg61Trp) c.217-208C>T (n.217-208C>T) c.286C>T (p.Arg96Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.63837445G>C | CA400601453 | SMARCD2 | n.285C>G n.31C>G c.256C>G (p.Arg86Gly) c.60C>G c.214C>G (p.Arg72Gly) c.397C>G (p.Arg133Gly) c.172C>G (p.Arg58Gly) c.253C>G (p.Arg85Gly) n.53-208C>G c.181C>G (p.Arg61Gly) c.217-208C>G (n.217-208C>G) c.286C>G (p.Arg96Gly) | |
| 17 | g.63837445G= | CA2270105536 | SMARCD2 | n.285C= n.31C= c.256C= (p.Arg86=) c.60C= c.214C= (p.Arg72=) c.397C= (p.Arg133=) c.172C= (p.Arg58=) c.253C= (p.Arg85=) n.53-208C= c.181C= (p.Arg61=) c.217-208C= (n.217-208C=) c.286C= (p.Arg96=) | |
| 17 | g.63837445G>T | CA501202269 | SMARCD2 | n.285C>A n.31C>A c.256C>A (p.Arg86=) c.60C>A c.214C>A (p.Arg72=) c.397C>A (p.Arg133=) c.172C>A (p.Arg58=) c.253C>A (p.Arg85=) n.53-208C>A c.181C>A (p.Arg61=) c.217-208C>A (n.217-208C>A) c.286C>A (p.Arg96=) | dbSNP gnomAD v4 |
| 17 | g.63837446G>A | CA292954682 | SMARCD2 | n.284C>T n.30C>T c.255C>T (p.Arg85=) c.59C>T c.213C>T (p.Arg71=) c.396C>T (p.Arg132=) c.171C>T (p.Arg57=) c.252C>T (p.Arg84=) n.53-209C>T c.180C>T (p.Arg60=) c.217-209C>T (n.217-209C>T) c.285C>T (p.Arg95=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63837446G>C | CA501202270 | SMARCD2 | n.284C>G n.30C>G c.255C>G (p.Arg85=) c.59C>G c.213C>G (p.Arg71=) c.396C>G (p.Arg132=) c.171C>G (p.Arg57=) c.252C>G (p.Arg84=) n.53-209C>G c.180C>G (p.Arg60=) c.217-209C>G (n.217-209C>G) c.285C>G (p.Arg95=) | |
| 17 | g.63837446G= | CA2270105537 | SMARCD2 | n.284C= n.30C= c.255C= (p.Arg85=) c.59C= c.213C= (p.Arg71=) c.396C= (p.Arg132=) c.171C= (p.Arg57=) c.252C= (p.Arg84=) n.53-209C= c.180C= (p.Arg60=) c.217-209C= (n.217-209C=) c.285C= (p.Arg95=) | |
| 17 | g.63837446G>T | CA501202271 | SMARCD2 | n.284C>A n.30C>A c.255C>A (p.Arg85=) c.59C>A c.213C>A (p.Arg71=) c.396C>A (p.Arg132=) c.171C>A (p.Arg57=) c.252C>A (p.Arg84=) n.53-209C>A c.180C>A (p.Arg60=) c.217-209C>A (n.217-209C>A) c.285C>A (p.Arg95=) | |
| 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.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) |