| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2303310A>C | CA337954383 | SKI | n.289A>C c.1121A>C (p.Gln374Pro) n.228A>C c.251A>C (p.Gln84Pro) c.629A>C (p.Gln210Pro) | |
| 1 | g.2303310A>G | CA337954386 | SKI | n.289A>G c.1121A>G (p.Gln374Arg) n.228A>G c.251A>G (p.Gln84Arg) c.629A>G (p.Gln210Arg) | |
| 1 | g.2303310A>T | CA337954385 | SKI | n.289A>T c.1121A>T (p.Gln374Leu) n.228A>T c.251A>T (p.Gln84Leu) c.629A>T (p.Gln210Leu) | |
| 1 | g.2303311G>A | CA415774399 | SKI | n.290G>A c.1122G>A (p.Gln374=) n.229G>A c.252G>A (p.Gln84=) c.630G>A (p.Gln210=) | |
| 1 | g.2303311G>C | CA337954387 | SKI | n.290G>C c.1122G>C (p.Gln374His) n.229G>C c.252G>C (p.Gln84His) c.630G>C (p.Gln210His) | |
| 1 | g.2303311G= | CA1143903284 | SKI | n.290G= c.1122G= (p.Gln374=) n.229G= c.252G= (p.Gln84=) c.630G= (p.Gln210=) | |
| 1 | g.2303311G>T | CA536591 | SKI | n.290G>T c.1122G>T (p.Gln374His) n.229G>T c.252G>T (p.Gln84His) c.630G>T (p.Gln210His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303312C>A | CA337954388 | SKI | n.291C>A c.1123C>A (p.Arg375Ser) n.230C>A c.253C>A (p.Arg85Ser) c.631C>A (p.Arg211Ser) | |
| 1 | g.2303312C= | CA1149512072 | SKI | n.291C= c.1123C= (p.Arg375=) n.230C= c.253C= (p.Arg85=) c.631C= (p.Arg211=) | |
| 1 | g.2303312C>G | CA337954389 | SKI | n.291C>G c.1123C>G (p.Arg375Gly) n.230C>G c.253C>G (p.Arg85Gly) c.631C>G (p.Arg211Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.2303312C>T | CA16895561 | SKI | n.291C>T c.1123C>T (p.Arg375Cys) n.230C>T c.253C>T (p.Arg85Cys) c.631C>T (p.Arg211Cys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.2303313G>A | CA536592 | SKI | n.292G>A c.1124G>A (p.Arg375His) n.231G>A c.254G>A (p.Arg85His) c.632G>A (p.Arg211His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.2303313G>C | CA337954391 | SKI | n.292G>C c.1124G>C (p.Arg375Pro) n.231G>C c.254G>C (p.Arg85Pro) c.632G>C (p.Arg211Pro) | |
| 1 | g.2303313G= | CA1149512080 | SKI | n.292G= c.1124G= (p.Arg375=) n.231G= c.254G= (p.Arg85=) c.632G= (p.Arg211=) | |
| 1 | g.2303313G>T | CA337954393 | SKI | n.292G>T c.1124G>T (p.Arg375Leu) n.231G>T c.254G>T (p.Arg85Leu) c.632G>T (p.Arg211Leu) | |
| 1 | g.2303314C>A | CA415774405 | SKI | n.293C>A c.1125C>A (p.Arg375=) n.232C>A c.255C>A (p.Arg85=) c.633C>A (p.Arg211=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303314C= | CA1149512085 | SKI | n.293C= c.1125C= (p.Arg375=) n.232C= c.255C= (p.Arg85=) c.633C= (p.Arg211=) | |
| 1 | g.2303314C>G | CA415774410 | SKI | n.293C>G c.1125C>G (p.Arg375=) n.232C>G c.255C>G (p.Arg85=) c.633C>G (p.Arg211=) | |
| 1 | g.2303314C>T | CA415774407 | SKI | n.293C>T c.1125C>T (p.Arg375=) n.232C>T c.255C>T (p.Arg85=) c.633C>T (p.Arg211=) | dbSNP |
| 1 | g.2303315C>A | CA337954397 | SKI | n.294C>A c.1126C>A (p.Leu376Ile) n.233C>A c.256C>A (p.Leu86Ile) c.634C>A (p.Leu212Ile) | |
| 1 | g.2303315C>G | CA337954399 | SKI | n.294C>G c.1126C>G (p.Leu376Val) n.233C>G c.256C>G (p.Leu86Val) c.634C>G (p.Leu212Val) | |
| 1 | g.2303315C>T | CA337954401 | SKI | n.294C>T c.1126C>T (p.Leu376Phe) n.233C>T c.256C>T (p.Leu86Phe) c.634C>T (p.Leu212Phe) | ClinVar |
| 1 | g.2303316T>A | CA337954402 | SKI | n.295T>A c.1127T>A (p.Leu376His) n.234T>A c.257T>A (p.Leu86His) c.635T>A (p.Leu212His) | |
| 1 | g.2303316T>C | CA536593 | SKI | n.295T>C c.1127T>C (p.Leu376Pro) n.234T>C c.257T>C (p.Leu86Pro) c.635T>C (p.Leu212Pro) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.2303316T>G | CA337954404 | SKI | n.295T>G c.1127T>G (p.Leu376Arg) n.234T>G c.257T>G (p.Leu86Arg) c.635T>G (p.Leu212Arg) | |
| 1 | g.2303316T= | CA1145108903 | SKI | n.295T= c.1127T= (p.Leu376=) n.234T= c.257T= (p.Leu86=) c.635T= (p.Leu212=) | |
| 1 | g.2303317C>A | CA415774413 | SKI | n.296C>A c.1128C>A (p.Leu376=) n.235C>A c.258C>A (p.Leu86=) c.636C>A (p.Leu212=) | ClinVar |
| 1 | g.2303317C= | CA1149512088 | SKI | n.296C= c.1128C= (p.Leu376=) n.235C= c.258C= (p.Leu86=) c.636C= (p.Leu212=) | |
| 1 | g.2303317C>G | CA415774416 | SKI | n.296C>G c.1128C>G (p.Leu376=) n.235C>G c.258C>G (p.Leu86=) c.636C>G (p.Leu212=) | COSMIC |
| 1 | g.2303317C>T | CA536594 | SKI | n.296C>T c.1128C>T (p.Leu376=) n.235C>T c.258C>T (p.Leu86=) c.636C>T (p.Leu212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303318T>A | CA337954411 | SKI | n.297T>A c.1129T>A (p.Ser377Thr) n.236T>A c.259T>A (p.Ser87Thr) c.637T>A (p.Ser213Thr) | |
| 1 | g.2303318T>C | CA337954407 | SKI | n.297T>C c.1129T>C (p.Ser377Pro) n.236T>C c.259T>C (p.Ser87Pro) c.637T>C (p.Ser213Pro) | |
| 1 | g.2303318T>G | CA337954409 | SKI | n.297T>G c.1129T>G (p.Ser377Ala) n.236T>G c.259T>G (p.Ser87Ala) c.637T>G (p.Ser213Ala) | ClinVar |
| 1 | g.2303319C>A | CA337954415 | SKI | n.298C>A c.1130C>A (p.Ser377Tyr) n.237C>A c.260C>A (p.Ser87Tyr) c.638C>A (p.Ser213Tyr) | |
| 1 | g.2303319C>G | CA337954416 | SKI | n.298C>G c.1130C>G (p.Ser377Cys) n.237C>G c.260C>G (p.Ser87Cys) c.638C>G (p.Ser213Cys) | |
| 1 | g.2303319C>T | CA337954417 | SKI | n.298C>T c.1130C>T (p.Ser377Phe) n.237C>T c.260C>T (p.Ser87Phe) c.638C>T (p.Ser213Phe) | |
| 1 | g.2303320T>A | CA415774424 | SKI | n.299T>A c.1131T>A (p.Ser377=) n.238T>A c.261T>A (p.Ser87=) c.639T>A (p.Ser213=) | |
| 1 | g.2303320T>C | CA16895571 | SKI | n.299T>C c.1131T>C (p.Ser377=) n.238T>C c.261T>C (p.Ser87=) c.639T>C (p.Ser213=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.2303320T>G | CA415774425 | SKI | n.299T>G c.1131T>G (p.Ser377=) n.238T>G c.261T>G (p.Ser87=) c.639T>G (p.Ser213=) | |
| 1 | g.2303320T= | CA1149512091 | SKI | n.299T= c.1131T= (p.Ser377=) n.238T= c.261T= (p.Ser87=) c.639T= (p.Ser213=) | |
| 1 | g.2303321G>A | CA337954423 | SKI | n.300G>A c.1132G>A (p.Ala378Thr) n.239G>A c.262G>A (p.Ala88Thr) c.640G>A (p.Ala214Thr) | |
| 1 | g.2303321G>C | CA337954421 | SKI | n.300G>C c.1132G>C (p.Ala378Pro) n.239G>C c.262G>C (p.Ala88Pro) c.640G>C (p.Ala214Pro) | |
| 1 | g.2303321G>T | CA337954419 | SKI | n.300G>T c.1132G>T (p.Ala378Ser) n.239G>T c.262G>T (p.Ala88Ser) c.640G>T (p.Ala214Ser) | |
| 1 | g.2303322C>A | CA337954424 | SKI | n.301C>A c.1133C>A (p.Ala378Asp) n.240C>A c.263C>A (p.Ala88Asp) c.641C>A (p.Ala214Asp) | |
| 1 | g.2303322C>G | CA337954426 | SKI | n.301C>G c.1133C>G (p.Ala378Gly) n.240C>G c.263C>G (p.Ala88Gly) c.641C>G (p.Ala214Gly) | |
| 1 | g.2303322C>T | CA337954427 | SKI | n.301C>T c.1133C>T (p.Ala378Val) n.240C>T c.263C>T (p.Ala88Val) c.641C>T (p.Ala214Val) | |
| 1 | g.2303323T>A | CA415774427 | SKI | n.302T>A c.1134T>A (p.Ala378=) n.241T>A c.264T>A (p.Ala88=) c.642T>A (p.Ala214=) | |
| 1 | g.2303323T>C | CA415774432 | SKI | n.302T>C c.1134T>C (p.Ala378=) n.241T>C c.264T>C (p.Ala88=) c.642T>C (p.Ala214=) | |
| 1 | g.2303323T>G | CA415774433 | SKI | n.302T>G c.1134T>G (p.Ala378=) n.241T>G c.264T>G (p.Ala88=) c.642T>G (p.Ala214=) | |
| 1 | g.2303325del | CA645511545 | SKI | n.304del c.1136del (p.Phe379SerfsTer?) n.243del c.266del (p.Phe89SerfsTer?) c.644del (p.Phe215SerfsTer?) | COSMIC |
| 1 | g.2303324T>A | CA337954429 | SKI | n.303T>A c.1135T>A (p.Phe379Ile) n.242T>A c.265T>A (p.Phe89Ile) c.643T>A (p.Phe215Ile) | |
| 1 | g.2303324T>C | CA337954433 | SKI | n.303T>C c.1135T>C (p.Phe379Leu) n.242T>C c.265T>C (p.Phe89Leu) c.643T>C (p.Phe215Leu) | |
| 1 | g.2303324T>G | CA337954435 | SKI | n.303T>G c.1135T>G (p.Phe379Val) n.242T>G c.265T>G (p.Phe89Val) c.643T>G (p.Phe215Val) | |
| 1 | g.2303325T>A | CA337954436 | SKI | n.304T>A c.1136T>A (p.Phe379Tyr) n.243T>A c.266T>A (p.Phe89Tyr) c.644T>A (p.Phe215Tyr) | |
| 1 | g.2303325T>C | CA337954440 | SKI | n.304T>C c.1136T>C (p.Phe379Ser) n.243T>C c.266T>C (p.Phe89Ser) c.644T>C (p.Phe215Ser) | |
| 1 | g.2303325T>G | CA337954438 | SKI | n.304T>G c.1136T>G (p.Phe379Cys) n.243T>G c.266T>G (p.Phe89Cys) c.644T>G (p.Phe215Cys) | |
| 1 | g.2303326C>A | CA337954442 | SKI | n.305C>A c.1137C>A (p.Phe379Leu) n.244C>A c.267C>A (p.Phe89Leu) c.645C>A (p.Phe215Leu) | |
| 1 | g.2303326C>G | CA337954444 | SKI | n.305C>G c.1137C>G (p.Phe379Leu) n.244C>G c.267C>G (p.Phe89Leu) c.645C>G (p.Phe215Leu) | |
| 1 | g.2303326C>T | CA415774438 | SKI | n.305C>T c.1137C>T (p.Phe379=) n.244C>T c.267C>T (p.Phe89=) c.645C>T (p.Phe215=) | gnomAD v4 COSMIC |
| 1 | g.2303327C>A | CA415774439 | SKI | n.306C>A c.1138C>A (p.Arg380=) n.245C>A c.268C>A (p.Arg90=) c.646C>A (p.Arg216=) | |
| 1 | g.2303327C= | CA1149512093 | SKI | n.306C= c.1138C= (p.Arg380=) n.245C= c.268C= (p.Arg90=) c.646C= (p.Arg216=) | |
| 1 | g.2303327C>G | CA337954446 | SKI | n.306C>G c.1138C>G (p.Arg380Gly) n.245C>G c.268C>G (p.Arg90Gly) c.646C>G (p.Arg216Gly) | |
| 1 | g.2303327C>T | CA337954447 | SKI | n.306C>T c.1138C>T (p.Arg380Ter) n.245C>T c.268C>T (p.Arg90Ter) c.646C>T (p.Arg216Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.2303328G>A | CA322468 | SKI | n.307G>A c.1139G>A (p.Arg380Gln) n.246G>A c.269G>A (p.Arg90Gln) c.647G>A (p.Arg216Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303328G>C | CA337954450 | SKI | n.307G>C c.1139G>C (p.Arg380Pro) n.246G>C c.269G>C (p.Arg90Pro) c.647G>C (p.Arg216Pro) | |
| 1 | g.2303328G= | CA1149512098 | SKI | n.307G= c.1139G= (p.Arg380=) n.246G= c.269G= (p.Arg90=) c.647G= (p.Arg216=) | |
| 1 | g.2303328G>T | CA337954451 | SKI | n.307G>T c.1139G>T (p.Arg380Leu) n.246G>T c.269G>T (p.Arg90Leu) c.647G>T (p.Arg216Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303329A>C | CA415774447 | SKI | n.308A>C c.1140A>C (p.Arg380=) n.247A>C c.270A>C (p.Arg90=) c.648A>C (p.Arg216=) | |
| 1 | g.2303329A>G | CA415774448 | SKI | n.308A>G c.1140A>G (p.Arg380=) n.247A>G c.270A>G (p.Arg90=) c.648A>G (p.Arg216=) | |
| 1 | g.2303329A>T | CA415774449 | SKI | n.308A>T c.1140A>T (p.Arg380=) n.247A>T c.270A>T (p.Arg90=) c.648A>T (p.Arg216=) | |
| 1 | g.2303330C>A | CA337954453 | SKI | n.309C>A c.1141C>A (p.Pro381Thr) n.248C>A c.271C>A (p.Pro91Thr) c.649C>A (p.Pro217Thr) | |
| 1 | g.2303330C>G | CA337954454 | SKI | n.309C>G c.1141C>G (p.Pro381Ala) n.248C>G c.271C>G (p.Pro91Ala) c.649C>G (p.Pro217Ala) | |
| 1 | g.2303330C>T | CA337954455 | SKI | n.309C>T c.1141C>T (p.Pro381Ser) n.248C>T c.271C>T (p.Pro91Ser) c.649C>T (p.Pro217Ser) | |
| 1 | g.2303332del | CA2585361078 | SKI | n.311del c.1143del (p.Trp382GlyfsTer?) n.250del c.273del (p.Trp92GlyfsTer?) c.651del (p.Trp218GlyfsTer?) | |
| 1 | g.2303331C>A | CA337954459 | SKI | n.310C>A c.1142C>A (p.Pro381His) n.249C>A c.272C>A (p.Pro91His) c.650C>A (p.Pro217His) | |
| 1 | g.2303331C>G | CA337954458 | SKI | n.310C>G c.1142C>G (p.Pro381Arg) n.249C>G c.272C>G (p.Pro91Arg) c.650C>G (p.Pro217Arg) | |
| 1 | g.2303331C>T | CA337954456 | SKI | n.310C>T c.1142C>T (p.Pro381Leu) n.249C>T c.272C>T (p.Pro91Leu) c.650C>T (p.Pro217Leu) | |
| 1 | g.2303332C>A | CA415774451 | SKI | n.311C>A c.1143C>A (p.Pro381=) n.250C>A c.273C>A (p.Pro91=) c.651C>A (p.Pro217=) | |
| 1 | g.2303332C>G | CA415774452 | SKI | n.311C>G c.1143C>G (p.Pro381=) n.250C>G c.273C>G (p.Pro91=) c.651C>G (p.Pro217=) | ClinVar |
| 1 | g.2303332C>T | CA415774453 | SKI | n.311C>T c.1143C>T (p.Pro381=) n.250C>T c.273C>T (p.Pro91=) c.651C>T (p.Pro217=) | gnomAD v4 |
| 1 | g.2303333T>A | CA337954461 | SKI | n.312T>A c.1144T>A (p.Trp382Arg) n.251T>A c.274T>A (p.Trp92Arg) c.652T>A (p.Trp218Arg) | |
| 1 | g.2303333T>C | CA337954463 | SKI | n.312T>C c.1144T>C (p.Trp382Arg) n.251T>C c.274T>C (p.Trp92Arg) c.652T>C (p.Trp218Arg) | |
| 1 | g.2303333T>G | CA337954467 | SKI | n.312T>G c.1144T>G (p.Trp382Gly) n.251T>G c.274T>G (p.Trp92Gly) c.652T>G (p.Trp218Gly) | |
| 1 | g.2303334G>A | CA337954469 | SKI | n.313G>A c.1145G>A (p.Trp382Ter) n.252G>A c.275G>A (p.Trp92Ter) c.653G>A (p.Trp218Ter) | |
| 1 | g.2303334G>C | CA337954470 | SKI | n.313G>C c.1145G>C (p.Trp382Ser) n.252G>C c.275G>C (p.Trp92Ser) c.653G>C (p.Trp218Ser) | |
| 1 | g.2303334G>T | CA337954472 | SKI | n.313G>T c.1145G>T (p.Trp382Leu) n.252G>T c.275G>T (p.Trp92Leu) c.653G>T (p.Trp218Leu) | |
| 1 | g.2303335G>A | CA337954473 | SKI | n.314G>A c.1146G>A (p.Trp382Ter) n.253G>A c.276G>A (p.Trp92Ter) c.654G>A (p.Trp218Ter) | |
| 1 | g.2303335G>C | CA337954475 | SKI | n.314G>C c.1146G>C (p.Trp382Cys) n.253G>C c.276G>C (p.Trp92Cys) c.654G>C (p.Trp218Cys) | |
| 1 | g.2303335G>T | CA337954476 | SKI | n.314G>T c.1146G>T (p.Trp382Cys) n.253G>T c.276G>T (p.Trp92Cys) c.654G>T (p.Trp218Cys) | |
| 1 | g.2303336T>A | CA337954478 | SKI | n.315T>A c.1147T>A (p.Ser383Thr) n.254T>A c.277T>A (p.Ser93Thr) c.655T>A (p.Ser219Thr) | |
| 1 | g.2303336T>C | CA337954479 | SKI | n.315T>C c.1147T>C (p.Ser383Pro) n.254T>C c.277T>C (p.Ser93Pro) c.655T>C (p.Ser219Pro) | |
| 1 | g.2303336T>G | CA337954481 | SKI | n.315T>G c.1147T>G (p.Ser383Ala) n.254T>G c.277T>G (p.Ser93Ala) c.655T>G (p.Ser219Ala) | |
| 1 | g.2303337C>A | CA337954484 | SKI | n.316C>A c.1148C>A (p.Ser383Tyr) n.255C>A c.278C>A (p.Ser93Tyr) c.656C>A (p.Ser219Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303337C= | CA1149512111 | SKI | n.316C= c.1148C= (p.Ser383=) n.255C= c.278C= (p.Ser93=) c.656C= (p.Ser219=) | |
| 1 | g.2303337C>G | CA337954483 | SKI | n.316C>G c.1148C>G (p.Ser383Cys) n.255C>G c.278C>G (p.Ser93Cys) c.656C>G (p.Ser219Cys) | |
| 1 | g.2303337C>T | CA337954482 | SKI | n.316C>T c.1148C>T (p.Ser383Phe) n.255C>T c.278C>T (p.Ser93Phe) c.656C>T (p.Ser219Phe) | ClinVar gnomAD v4 COSMIC |
| 1 | g.2303338C>A | CA415774459 | SKI | n.317C>A c.1149C>A (p.Ser383=) n.256C>A c.279C>A (p.Ser93=) c.657C>A (p.Ser219=) | |
| 1 | g.2303338C= | CA1149512115 | SKI | n.317C= c.1149C= (p.Ser383=) n.256C= c.279C= (p.Ser93=) c.657C= (p.Ser219=) | |
| 1 | g.2303338C>G | CA536596 | SKI | n.317C>G c.1149C>G (p.Ser383=) n.256C>G c.279C>G (p.Ser93=) c.657C>G (p.Ser219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303338C>T | CA536595 | SKI | n.317C>T c.1149C>T (p.Ser383=) n.256C>T c.279C>T (p.Ser93=) c.657C>T (p.Ser219=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303339C>A | CA337954486 | SKI | n.318C>A c.1150C>A (p.Pro384Thr) n.257C>A c.280C>A (p.Pro94Thr) c.658C>A (p.Pro220Thr) | |
| 1 | g.2303339C= | CA1149512117 | SKI | n.318C= c.1150C= (p.Pro384=) n.257C= c.280C= (p.Pro94=) c.658C= (p.Pro220=) | |
| 1 | g.2303339C>G | CA337954487 | SKI | n.318C>G c.1150C>G (p.Pro384Ala) n.257C>G c.280C>G (p.Pro94Ala) c.658C>G (p.Pro220Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.2303339C>T | CA337954489 | SKI | n.318C>T c.1150C>T (p.Pro384Ser) n.257C>T c.280C>T (p.Pro94Ser) c.658C>T (p.Pro220Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303340C>A | CA337954491 | SKI | n.319C>A c.1151C>A (p.Pro384His) n.258C>A c.281C>A (p.Pro94His) c.659C>A (p.Pro220His) | |
| 1 | g.2303340C= | CA1149512119 | SKI | n.319C= c.1151C= (p.Pro384=) n.258C= c.281C= (p.Pro94=) c.659C= (p.Pro220=) | |
| 1 | g.2303340C>G | CA536597 | SKI | n.319C>G c.1151C>G (p.Pro384Arg) n.258C>G c.281C>G (p.Pro94Arg) c.659C>G (p.Pro220Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303340C>T | CA337954493 | SKI | n.319C>T c.1151C>T (p.Pro384Leu) n.258C>T c.281C>T (p.Pro94Leu) c.659C>T (p.Pro220Leu) | |
| 1 | g.2303341C>A | CA415774473 | SKI | n.320C>A c.1152C>A (p.Pro384=) n.259C>A c.282C>A (p.Pro94=) c.660C>A (p.Pro220=) | |
| 1 | g.2303341C= | CA1143398581 | SKI | n.320C= c.1152C= (p.Pro384=) n.259C= c.282C= (p.Pro94=) c.660C= (p.Pro220=) | |
| 1 | g.2303341C>G | CA536598 | SKI | n.320C>G c.1152C>G (p.Pro384=) n.259C>G c.282C>G (p.Pro94=) c.660C>G (p.Pro220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303341C>T | CA536599 | SKI | n.320C>T c.1152C>T (p.Pro384=) n.259C>T c.282C>T (p.Pro94=) c.660C>T (p.Pro220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303342G>A | CA536600 | SKI | n.321G>A c.1153G>A (p.Ala385Thr) n.260G>A c.283G>A (p.Ala95Thr) c.661G>A (p.Ala221Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303342G>C | CA337954495 | SKI | n.321G>C c.1153G>C (p.Ala385Pro) n.260G>C c.283G>C (p.Ala95Pro) c.661G>C (p.Ala221Pro) | gnomAD v4 |
| 1 | g.2303342G= | CA1149512129 | SKI | n.321G= c.1153G= (p.Ala385=) n.260G= c.283G= (p.Ala95=) c.661G= (p.Ala221=) | |
| 1 | g.2303342G>T | CA337954497 | SKI | n.321G>T c.1153G>T (p.Ala385Ser) n.260G>T c.283G>T (p.Ala95Ser) c.661G>T (p.Ala221Ser) | dbSNP gnomAD v4 |
| 1 | g.2303343C>A | CA337954504 | SKI | n.322C>A c.1154C>A (p.Ala385Glu) n.261C>A c.284C>A (p.Ala95Glu) c.662C>A (p.Ala221Glu) | dbSNP |
| 1 | g.2303343C= | CA1149512132 | SKI | n.322C= c.1154C= (p.Ala385=) n.261C= c.284C= (p.Ala95=) c.662C= (p.Ala221=) | |
| 1 | g.2303343C>G | CA337954503 | SKI | n.322C>G c.1154C>G (p.Ala385Gly) n.261C>G c.284C>G (p.Ala95Gly) c.662C>G (p.Ala221Gly) | |
| 1 | g.2303343C>T | CA337954499 | SKI | n.322C>T c.1154C>T (p.Ala385Val) n.261C>T c.284C>T (p.Ala95Val) c.662C>T (p.Ala221Val) | gnomAD v4 |
| 1 | g.2303344A= | CA1149512134 | SKI | n.323A= c.1155A= (p.Ala385=) n.262A= c.285A= (p.Ala95=) c.663A= (p.Ala221=) | |
| 1 | g.2303344A>C | CA415774482 | SKI | n.323A>C c.1155A>C (p.Ala385=) n.262A>C c.285A>C (p.Ala95=) c.663A>C (p.Ala221=) | gnomAD v4 |
| 1 | g.2303344A>G | CA415774483 | SKI | n.323A>G c.1155A>G (p.Ala385=) n.262A>G c.285A>G (p.Ala95=) c.663A>G (p.Ala221=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303344A>T | CA415774484 | SKI | n.323A>T c.1155A>T (p.Ala385=) n.262A>T c.285A>T (p.Ala95=) c.663A>T (p.Ala221=) | |
| 1 | g.2303345G>A | CA337954508 | SKI | n.324G>A c.1156G>A (p.Val386Met) n.263G>A c.286G>A (p.Val96Met) c.664G>A (p.Val222Met) | |
| 1 | g.2303345G>C | CA337954506 | SKI | n.324G>C c.1156G>C (p.Val386Leu) n.263G>C c.286G>C (p.Val96Leu) c.664G>C (p.Val222Leu) | |
| 1 | g.2303345G>T | CA337954509 | SKI | n.324G>T c.1156G>T (p.Val386Leu) n.263G>T c.286G>T (p.Val96Leu) c.664G>T (p.Val222Leu) | |
| 1 | g.2303346T>A | CA337954510 | SKI | n.325T>A c.1157T>A (p.Val386Glu) n.264T>A c.287T>A (p.Val96Glu) c.665T>A (p.Val222Glu) | |
| 1 | g.2303346T>C | CA337954512 | SKI | n.325T>C c.1157T>C (p.Val386Ala) n.264T>C c.287T>C (p.Val96Ala) c.665T>C (p.Val222Ala) | dbSNP gnomAD v4 |
| 1 | g.2303346T>G | CA536601 | SKI | n.325T>G c.1157T>G (p.Val386Gly) n.264T>G c.287T>G (p.Val96Gly) c.665T>G (p.Val222Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303346T= | CA1149512136 | SKI | n.325T= c.1157T= (p.Val386=) n.264T= c.287T= (p.Val96=) c.665T= (p.Val222=) | |
| 1 | g.2303347G>A | CA415774487 | SKI | n.326G>A c.1158G>A (p.Val386=) n.265G>A c.288G>A (p.Val96=) c.666G>A (p.Val222=) | |
| 1 | g.2303347G>C | CA415774488 | SKI | n.326G>C c.1158G>C (p.Val386=) n.265G>C c.288G>C (p.Val96=) c.666G>C (p.Val222=) | |
| 1 | g.2303347G>T | CA415774491 | SKI | n.326G>T c.1158G>T (p.Val386=) n.265G>T c.288G>T (p.Val96=) c.666G>T (p.Val222=) | |
| 1 | g.2303348T>A | CA337954513 | SKI | n.327T>A c.1159T>A (p.Ser387Thr) n.266T>A c.289T>A (p.Ser97Thr) c.667T>A (p.Ser223Thr) | |
| 1 | g.2303348T>C | CA337954514 | SKI | n.327T>C c.1159T>C (p.Ser387Pro) n.266T>C c.289T>C (p.Ser97Pro) c.667T>C (p.Ser223Pro) | |
| 1 | g.2303348T>G | CA337954515 | SKI | n.327T>G c.1159T>G (p.Ser387Ala) n.266T>G c.289T>G (p.Ser97Ala) c.667T>G (p.Ser223Ala) | |
| 1 | g.2303349C>A | CA337954516 | SKI | n.328C>A c.1160C>A (p.Ser387Ter) n.267C>A c.290C>A (p.Ser97Ter) c.668C>A (p.Ser223Ter) | |
| 1 | g.2303349C>G | CA337954518 | SKI | n.328C>G c.1160C>G (p.Ser387Ter) n.267C>G c.290C>G (p.Ser97Ter) c.668C>G (p.Ser223Ter) | |
| 1 | g.2303349C>T | CA337954520 | SKI | n.328C>T c.1160C>T (p.Ser387Leu) n.267C>T c.290C>T (p.Ser97Leu) c.668C>T (p.Ser223Leu) | dbSNP gnomAD v4 |
| 1 | g.2303350A>C | CA415774505 | SKI | n.329A>C c.1161A>C (p.Ser387=) n.268A>C c.291A>C (p.Ser97=) c.669A>C (p.Ser223=) | |
| 1 | g.2303350A>G | CA415774501 | SKI | n.329A>G c.1161A>G (p.Ser387=) n.268A>G c.291A>G (p.Ser97=) c.669A>G (p.Ser223=) | |
| 1 | g.2303350A>T | CA415774504 | SKI | n.329A>T c.1161A>T (p.Ser387=) n.268A>T c.291A>T (p.Ser97=) c.669A>T (p.Ser223=) | |
| 1 | g.2303351G>A | CA321796 | SKI | n.330G>A c.1162G>A (p.Ala388Thr) n.269G>A c.292G>A (p.Ala98Thr) c.670G>A (p.Ala224Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303351G>C | CA337954522 | SKI | n.330G>C c.1162G>C (p.Ala388Pro) n.269G>C c.292G>C (p.Ala98Pro) c.670G>C (p.Ala224Pro) | |
| 1 | g.2303351G= | CA1144146282 | SKI | n.330G= c.1162G= (p.Ala388=) n.269G= c.292G= (p.Ala98=) c.670G= (p.Ala224=) | |
| 1 | g.2303351G>T | CA337954523 | SKI | n.330G>T c.1162G>T (p.Ala388Ser) n.269G>T c.292G>T (p.Ala98Ser) c.670G>T (p.Ala224Ser) | gnomAD v4 |
| 1 | g.2303352C>A | CA337954524 | SKI | n.331C>A c.1163C>A (p.Ala388Glu) n.270C>A c.293C>A (p.Ala98Glu) c.671C>A (p.Ala224Glu) | |
| 1 | g.2303352C= | CA1140934989 | SKI | n.331C= c.1163C= (p.Ala388=) n.270C= c.293C= (p.Ala98=) c.671C= (p.Ala224=) | |
| 1 | g.2303352C>G | CA337954526 | SKI | n.331C>G c.1163C>G (p.Ala388Gly) n.270C>G c.293C>G (p.Ala98Gly) c.671C>G (p.Ala224Gly) | |
| 1 | g.2303352C>T | CA323401 | SKI | n.331C>T c.1163C>T (p.Ala388Val) n.270C>T c.293C>T (p.Ala98Val) c.671C>T (p.Ala224Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303353G>A | CA536602 | SKI | n.332G>A c.1164G>A (p.Ala388=) n.271G>A c.294G>A (p.Ala98=) c.672G>A (p.Ala224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.2303353G>C | CA415774513 | SKI | n.332G>C c.1164G>C (p.Ala388=) n.271G>C c.294G>C (p.Ala98=) c.672G>C (p.Ala224=) | gnomAD v4 |
| 1 | g.2303353G= | CA1149512142 | SKI | n.332G= c.1164G= (p.Ala388=) n.271G= c.294G= (p.Ala98=) c.672G= (p.Ala224=) | |
| 1 | g.2303353G>T | CA415774514 | SKI | n.332G>T c.1164G>T (p.Ala388=) n.271G>T c.294G>T (p.Ala98=) c.672G>T (p.Ala224=) | gnomAD v4 |
| 1 | g.2303354A= | CA1149512145 | SKI | n.333A= c.1165A= (p.Ser389=) n.272A= c.295A= (p.Ser99=) c.673A= (p.Ser225=) | |
| 1 | g.2303354A>C | CA337954528 | SKI | n.333A>C c.1165A>C (p.Ser389Arg) n.272A>C c.295A>C (p.Ser99Arg) c.673A>C (p.Ser225Arg) | |
| 1 | g.2303354A>G | CA337954530 | SKI | n.333A>G c.1165A>G (p.Ser389Gly) n.272A>G c.295A>G (p.Ser99Gly) c.673A>G (p.Ser225Gly) | |
| 1 | g.2303354A>T | CA337954529 | SKI | n.333A>T c.1165A>T (p.Ser389Cys) n.272A>T c.295A>T (p.Ser99Cys) c.673A>T (p.Ser225Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303355G>A | CA536603 | SKI | n.334G>A c.1166G>A (p.Ser389Asn) n.273G>A c.296G>A (p.Ser99Asn) c.674G>A (p.Ser225Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303355G>C | CA337954531 | SKI | n.334G>C c.1166G>C (p.Ser389Thr) n.273G>C c.296G>C (p.Ser99Thr) c.674G>C (p.Ser225Thr) | |
| 1 | g.2303355G= | CA1149115461 | SKI | n.334G= c.1166G= (p.Ser389=) n.273G= c.296G= (p.Ser99=) c.674G= (p.Ser225=) | |
| 1 | g.2303355G>T | CA337954532 | SKI | n.334G>T c.1166G>T (p.Ser389Ile) n.273G>T c.296G>T (p.Ser99Ile) c.674G>T (p.Ser225Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.2303356T>A | CA337954533 | SKI | n.335T>A c.1167T>A (p.Ser389Arg) n.274T>A c.297T>A (p.Ser99Arg) c.675T>A (p.Ser225Arg) | |
| 1 | g.2303356T>C | CA415774520 | SKI | n.335T>C c.1167T>C (p.Ser389=) n.274T>C c.297T>C (p.Ser99=) c.675T>C (p.Ser225=) | |
| 1 | g.2303356T>G | CA337954535 | SKI | n.335T>G c.1167T>G (p.Ser389Arg) n.274T>G c.297T>G (p.Ser99Arg) c.675T>G (p.Ser225Arg) | |
| 1 | g.2303357G>A | CA337954536 | SKI | n.336G>A c.1168G>A (p.Glu390Lys) n.275G>A c.298G>A (p.Glu100Lys) c.676G>A (p.Glu226Lys) | COSMIC |
| 1 | g.2303357G>C | CA337954537 | SKI | n.336G>C c.1168G>C (p.Glu390Gln) n.275G>C c.298G>C (p.Glu100Gln) c.676G>C (p.Glu226Gln) | |
| 1 | g.2303357G>T | CA337954539 | SKI | n.336G>T c.1168G>T (p.Glu390Ter) n.275G>T c.298G>T (p.Glu100Ter) c.676G>T (p.Glu226Ter) | |
| 1 | g.2303358A>C | CA337954541 | SKI | n.337A>C c.1169A>C (p.Glu390Ala) n.276A>C c.299A>C (p.Glu100Ala) c.677A>C (p.Glu226Ala) | |
| 1 | g.2303358A>G | CA337954543 | SKI | n.337A>G c.1169A>G (p.Glu390Gly) n.276A>G c.299A>G (p.Glu100Gly) c.677A>G (p.Glu226Gly) | |
| 1 | g.2303358A>T | CA337954544 | SKI | n.337A>T c.1169A>T (p.Glu390Val) n.276A>T c.299A>T (p.Glu100Val) c.677A>T (p.Glu226Val) | |
| 1 | g.2303359G>A | CA415774533 | SKI | n.338G>A c.1170G>A (p.Glu390=) n.277G>A c.300G>A (p.Glu100=) c.678G>A (p.Glu226=) | |
| 1 | g.2303359G>C | CA337954546 | SKI | n.338G>C c.1170G>C (p.Glu390Asp) n.277G>C c.300G>C (p.Glu100Asp) c.678G>C (p.Glu226Asp) | |
| 1 | g.2303359G>T | CA337954548 | SKI | n.338G>T c.1170G>T (p.Glu390Asp) n.277G>T c.300G>T (p.Glu100Asp) c.678G>T (p.Glu226Asp) | |
| 1 | g.2303360A>C | CA337954549 | SKI | n.339A>C c.1171A>C (p.Lys391Gln) n.278A>C c.301A>C (p.Lys101Gln) c.679A>C (p.Lys227Gln) | |
| 1 | g.2303360A>G | CA337954551 | SKI | n.339A>G c.1171A>G (p.Lys391Glu) n.278A>G c.301A>G (p.Lys101Glu) c.679A>G (p.Lys227Glu) | |
| 1 | g.2303360A>T | CA337954552 | SKI | n.339A>T c.1171A>T (p.Lys391Ter) n.278A>T c.301A>T (p.Lys101Ter) c.679A>T (p.Lys227Ter) | |
| 1 | g.2303361A>C | CA337954554 | SKI | n.340A>C c.1172A>C (p.Lys391Thr) n.279A>C c.302A>C (p.Lys101Thr) c.680A>C (p.Lys227Thr) | COSMIC |
| 1 | g.2303361A>G | CA337954555 | SKI | n.340A>G c.1172A>G (p.Lys391Arg) n.279A>G c.302A>G (p.Lys101Arg) c.680A>G (p.Lys227Arg) | |
| 1 | g.2303361A>T | CA337954557 | SKI | n.340A>T c.1172A>T (p.Lys391Ile) n.279A>T c.302A>T (p.Lys101Ile) c.680A>T (p.Lys227Ile) | gnomAD v4 |
| 1 | g.2303362A>C | CA337954558 | SKI | n.341A>C c.1173A>C (p.Lys391Asn) n.280A>C c.303A>C (p.Lys101Asn) c.681A>C (p.Lys227Asn) | |
| 1 | g.2303362A>G | CA415774541 | SKI | n.341A>G c.1173A>G (p.Lys391=) n.280A>G c.303A>G (p.Lys101=) c.681A>G (p.Lys227=) | gnomAD v4 |
| 1 | g.2303362A>T | CA337954560 | SKI | n.341A>T c.1173A>T (p.Lys391Asn) n.280A>T c.303A>T (p.Lys101Asn) c.681A>T (p.Lys227Asn) | |
| 1 | g.2303362_2303385dup | CA2642721412 | SKI | n.341_364dup c.1173_1196dup (p.Ala399_Leu400insGluLeuSerProHisLeuProAla) c.303_326dup (p.Ala109_Leu110insGluLeuSerProHisLeuProAla) c.681_704dup (p.Ala235_Leu236insGluLeuSerProHisLeuProAla) | gnomAD v4 |
| 1 | g.2303363G>A | CA337954561 | SKI | n.342G>A c.1174G>A (p.Glu392Lys) n.281G>A c.304G>A (p.Glu102Lys) c.682G>A (p.Glu228Lys) | |
| 1 | g.2303363G>C | CA337954563 | SKI | n.342G>C c.1174G>C (p.Glu392Gln) n.281G>C c.304G>C (p.Glu102Gln) c.682G>C (p.Glu228Gln) | dbSNP gnomAD v4 |
| 1 | g.2303363G= | CA1149512152 | SKI | n.342G= c.1174G= (p.Glu392=) n.281G= c.304G= (p.Glu102=) c.682G= (p.Glu228=) | |
| 1 | g.2303363G>T | CA337954565 | SKI | n.342G>T c.1174G>T (p.Glu392Ter) n.281G>T c.304G>T (p.Glu102Ter) c.682G>T (p.Glu228Ter) | |
| 1 | g.2303364A>C | CA337954568 | SKI | n.343A>C c.1175A>C (p.Glu392Ala) n.282A>C c.305A>C (p.Glu102Ala) c.683A>C (p.Glu228Ala) | |
| 1 | g.2303364A>G | CA337954570 | SKI | n.343A>G c.1175A>G (p.Glu392Gly) n.282A>G c.305A>G (p.Glu102Gly) c.683A>G (p.Glu228Gly) | |
| 1 | g.2303364A>T | CA337954571 | SKI | n.343A>T c.1175A>T (p.Glu392Val) n.282A>T c.305A>T (p.Glu102Val) c.683A>T (p.Glu228Val) | |
| 1 | g.2303365G>A | CA415774548 | SKI | n.344G>A c.1176G>A (p.Glu392=) n.283G>A c.306G>A (p.Glu102=) c.684G>A (p.Glu228=) | dbSNP gnomAD v4 |
| 1 | g.2303365G>C | CA337954573 | SKI | n.344G>C c.1176G>C (p.Glu392Asp) n.283G>C c.306G>C (p.Glu102Asp) c.684G>C (p.Glu228Asp) | |
| 1 | g.2303365G= | CA1149512155 | SKI | n.344G= c.1176G= (p.Glu392=) n.283G= c.306G= (p.Glu102=) c.684G= (p.Glu228=) | |
| 1 | g.2303365G>T | CA337954574 | SKI | n.344G>T c.1176G>T (p.Glu392Asp) n.283G>T c.306G>T (p.Glu102Asp) c.684G>T (p.Glu228Asp) | |
| 1 | g.2303366C>A | CA536605 | SKI | n.345C>A c.1177C>A (p.Leu393Ile) n.284C>A c.307C>A (p.Leu103Ile) c.685C>A (p.Leu229Ile) | ClinVar dbSNP ExAC |
| 1 | g.2303366C= | CA1149512158 | SKI | n.345C= c.1177C= (p.Leu393=) n.284C= c.307C= (p.Leu103=) c.685C= (p.Leu229=) | |
| 1 | g.2303366C>G | CA337954577 | SKI | n.345C>G c.1177C>G (p.Leu393Val) n.284C>G c.307C>G (p.Leu103Val) c.685C>G (p.Leu229Val) | dbSNP gnomAD v4 |
| 1 | g.2303366C>T | CA536604 | SKI | n.345C>T c.1177C>T (p.Leu393Phe) n.284C>T c.307C>T (p.Leu103Phe) c.685C>T (p.Leu229Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303367T>A | CA337954578 | SKI | n.346T>A c.1178T>A (p.Leu393His) n.285T>A c.308T>A (p.Leu103His) c.686T>A (p.Leu229His) | COSMIC |
| 1 | g.2303367T>C | CA337954579 | SKI | n.346T>C c.1178T>C (p.Leu393Pro) n.285T>C c.308T>C (p.Leu103Pro) c.686T>C (p.Leu229Pro) | |
| 1 | g.2303367T>G | CA337954580 | SKI | n.346T>G c.1178T>G (p.Leu393Arg) n.285T>G c.308T>G (p.Leu103Arg) c.686T>G (p.Leu229Arg) | |
| 1 | g.2303368C>A | CA415774554 | SKI | n.347C>A c.1179C>A (p.Leu393=) n.286C>A c.309C>A (p.Leu103=) c.687C>A (p.Leu229=) | |
| 1 | g.2303368C= | CA1148885400 | SKI | n.347C= c.1179C= (p.Leu393=) n.286C= c.309C= (p.Leu103=) c.687C= (p.Leu229=) | |
| 1 | g.2303368C>G | CA415774556 | SKI | n.347C>G c.1179C>G (p.Leu393=) n.286C>G c.309C>G (p.Leu103=) c.687C>G (p.Leu229=) | |
| 1 | g.2303368C>T | CA536606 | SKI | n.347C>T c.1179C>T (p.Leu393=) n.286C>T c.309C>T (p.Leu103=) c.687C>T (p.Leu229=) | dbSNP ExAC gnomAD v4 |
| 1 | g.2303369T>A | CA337954581 | SKI | n.348T>A c.1180T>A (p.Ser394Thr) n.287T>A c.310T>A (p.Ser104Thr) c.688T>A (p.Ser230Thr) | |
| 1 | g.2303369T>C | CA337954583 | SKI | n.348T>C c.1180T>C (p.Ser394Pro) n.287T>C c.310T>C (p.Ser104Pro) c.688T>C (p.Ser230Pro) | |
| 1 | g.2303369T>G | CA337954585 | SKI | n.348T>G c.1180T>G (p.Ser394Ala) n.287T>G c.310T>G (p.Ser104Ala) c.688T>G (p.Ser230Ala) | |
| 1 | g.2303370C>A | CA337954587 | SKI | n.349C>A c.1181C>A (p.Ser394Tyr) n.288C>A c.311C>A (p.Ser104Tyr) c.689C>A (p.Ser230Tyr) | |
| 1 | g.2303370C= | CA1149512161 | SKI | n.349C= c.1181C= (p.Ser394=) n.288C= c.311C= (p.Ser104=) c.689C= (p.Ser230=) | |
| 1 | g.2303370C>G | CA337954588 | SKI | n.349C>G c.1181C>G (p.Ser394Cys) n.288C>G c.311C>G (p.Ser104Cys) c.689C>G (p.Ser230Cys) | |
| 1 | g.2303370C>T | CA337954590 | SKI | n.349C>T c.1181C>T (p.Ser394Phe) n.288C>T c.311C>T (p.Ser104Phe) c.689C>T (p.Ser230Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303371C>A | CA415774565 | SKI | n.350C>A c.1182C>A (p.Ser394=) n.289C>A c.312C>A (p.Ser104=) c.690C>A (p.Ser230=) | |
| 1 | g.2303371C= | CA1145405309 | SKI | n.350C= c.1182C= (p.Ser394=) n.289C= c.312C= (p.Ser104=) c.690C= (p.Ser230=) | |
| 1 | g.2303371C>G | CA415774567 | SKI | n.350C>G c.1182C>G (p.Ser394=) n.289C>G c.312C>G (p.Ser104=) c.690C>G (p.Ser230=) | gnomAD v4 |
| 1 | g.2303371C>T | CA536607 | SKI | n.350C>T c.1182C>T (p.Ser394=) n.289C>T c.312C>T (p.Ser104=) c.690C>T (p.Ser230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303372C>A | CA337954594 | SKI | n.351C>A c.1183C>A (p.Pro395Thr) n.290C>A c.313C>A (p.Pro105Thr) c.691C>A (p.Pro231Thr) | |
| 1 | g.2303372C= | CA1149512165 | SKI | n.351C= c.1183C= (p.Pro395=) n.290C= c.313C= (p.Pro105=) c.691C= (p.Pro231=) | |
| 1 | g.2303372C>G | CA337954593 | SKI | n.351C>G c.1183C>G (p.Pro395Ala) n.290C>G c.313C>G (p.Pro105Ala) c.691C>G (p.Pro231Ala) | gnomAD v4 |
| 1 | g.2303372C>T | CA323368 | SKI | n.351C>T c.1183C>T (p.Pro395Ser) n.290C>T c.313C>T (p.Pro105Ser) c.691C>T (p.Pro231Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303373C>A | CA337954597 | SKI | n.352C>A c.1184C>A (p.Pro395Gln) n.291C>A c.314C>A (p.Pro105Gln) c.692C>A (p.Pro231Gln) | |
| 1 | g.2303373C>G | CA337954598 | SKI | n.352C>G c.1184C>G (p.Pro395Arg) n.291C>G c.314C>G (p.Pro105Arg) c.692C>G (p.Pro231Arg) | ClinVar gnomAD v4 |
| 1 | g.2303373C>T | CA337954599 | SKI | n.352C>T c.1184C>T (p.Pro395Leu) n.291C>T c.314C>T (p.Pro105Leu) c.692C>T (p.Pro231Leu) | gnomAD v4 |
| 1 | g.2303374A>C | CA415774574 | SKI | n.353A>C c.1185A>C (p.Pro395=) n.292A>C c.315A>C (p.Pro105=) c.693A>C (p.Pro231=) | gnomAD v4 |
| 1 | g.2303374A>G | CA415774575 | SKI | n.353A>G c.1185A>G (p.Pro395=) n.292A>G c.315A>G (p.Pro105=) c.693A>G (p.Pro231=) | ClinVar |
| 1 | g.2303374A>T | CA415774577 | SKI | n.353A>T c.1185A>T (p.Pro395=) n.292A>T c.315A>T (p.Pro105=) c.693A>T (p.Pro231=) | |
| 1 | g.2303375C>A | CA536608 | SKI | n.354C>A c.1186C>A (p.His396Asn) n.293C>A c.316C>A (p.His106Asn) c.694C>A (p.His232Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303375C= | CA1149512167 | SKI | n.354C= c.1186C= (p.His396=) n.293C= c.316C= (p.His106=) c.694C= (p.His232=) | |
| 1 | g.2303375C>G | CA337954601 | SKI | n.354C>G c.1186C>G (p.His396Asp) n.293C>G c.316C>G (p.His106Asp) c.694C>G (p.His232Asp) | |
| 1 | g.2303375C>T | CA337954603 | SKI | n.354C>T c.1186C>T (p.His396Tyr) n.293C>T c.316C>T (p.His106Tyr) c.694C>T (p.His232Tyr) | gnomAD v4 |
| 1 | g.2303376A= | CA1149512171 | SKI | n.355A= c.1187A= (p.His396=) n.294A= c.317A= (p.His106=) c.695A= (p.His232=) | |
| 1 | g.2303376A>C | CA16895635 | SKI | n.355A>C c.1187A>C (p.His396Pro) n.294A>C c.317A>C (p.His106Pro) c.695A>C (p.His232Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303376A>G | CA337954605 | SKI | n.355A>G c.1187A>G (p.His396Arg) n.294A>G c.317A>G (p.His106Arg) c.695A>G (p.His232Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303376A>T | CA337954606 | SKI | n.355A>T c.1187A>T (p.His396Leu) n.294A>T c.317A>T (p.His106Leu) c.695A>T (p.His232Leu) | |
| 1 | g.2303377C>A | CA16895639 | SKI | n.356C>A c.1188C>A (p.His396Gln) c.318C>A (p.His106Gln) c.696C>A (p.His232Gln) | dbSNP |
| 1 | g.2303377C= | CA1149512176 | SKI | n.356C= c.1188C= (p.His396=) c.318C= (p.His106=) c.696C= (p.His232=) | |
| 1 | g.2303377C>G | CA337954609 | SKI | n.356C>G c.1188C>G (p.His396Gln) c.318C>G (p.His106Gln) c.696C>G (p.His232Gln) | |
| 1 | g.2303377C>T | CA16603579 | SKI | n.356C>T c.1188C>T (p.His396=) c.318C>T (p.His106=) c.696C>T (p.His232=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303378C>A | CA337954612 | SKI | n.357C>A c.1189C>A (p.Leu397Ile) c.319C>A (p.Leu107Ile) c.697C>A (p.Leu233Ile) | gnomAD v4 COSMIC |
| 1 | g.2303378C= | CA1143783688 | SKI | n.357C= c.1189C= (p.Leu397=) c.319C= (p.Leu107=) c.697C= (p.Leu233=) | |
| 1 | g.2303378C>G | CA337954611 | SKI | n.357C>G c.1189C>G (p.Leu397Val) c.319C>G (p.Leu107Val) c.697C>G (p.Leu233Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.2303378C>T | CA536609 | SKI | n.357C>T c.1189C>T (p.Leu397Phe) c.319C>T (p.Leu107Phe) c.697C>T (p.Leu233Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303379T>A | CA337954614 | SKI | n.358T>A c.1190T>A (p.Leu397His) c.320T>A (p.Leu107His) c.698T>A (p.Leu233His) | |
| 1 | g.2303379T>C | CA337954616 | SKI | n.358T>C c.1190T>C (p.Leu397Pro) c.320T>C (p.Leu107Pro) c.698T>C (p.Leu233Pro) | |
| 1 | g.2303379T>G | CA337954617 | SKI | n.358T>G c.1190T>G (p.Leu397Arg) c.320T>G (p.Leu107Arg) c.698T>G (p.Leu233Arg) | |
| 1 | g.2303380C>A | CA415774593 | SKI | n.359C>A c.1191C>A (p.Leu397=) c.321C>A (p.Leu107=) c.699C>A (p.Leu233=) | |
| 1 | g.2303380C>G | CA415774592 | SKI | n.359C>G c.1191C>G (p.Leu397=) c.321C>G (p.Leu107=) c.699C>G (p.Leu233=) | |
| 1 | g.2303380C>T | CA415774591 | SKI | n.359C>T c.1191C>T (p.Leu397=) c.321C>T (p.Leu107=) c.699C>T (p.Leu233=) | |
| 1 | g.2303381C>A | CA337954619 | SKI | n.360C>A c.1192C>A (p.Pro398Thr) c.322C>A (p.Pro108Thr) c.700C>A (p.Pro234Thr) | |
| 1 | g.2303381C= | CA1149512184 | SKI | n.360C= c.1192C= (p.Pro398=) c.322C= (p.Pro108=) c.700C= (p.Pro234=) | |
| 1 | g.2303381C>G | CA337954620 | SKI | n.360C>G c.1192C>G (p.Pro398Ala) c.322C>G (p.Pro108Ala) c.700C>G (p.Pro234Ala) | |
| 1 | g.2303381C>T | CA337954622 | SKI | n.360C>T c.1192C>T (p.Pro398Ser) c.322C>T (p.Pro108Ser) c.700C>T (p.Pro234Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.2303382C>A | CA536610 | SKI | n.361C>A c.1193C>A (p.Pro398Gln) c.323C>A (p.Pro108Gln) c.701C>A (p.Pro234Gln) | dbSNP ExAC gnomAD v2 |
| 1 | g.2303382C= | CA1149512186 | SKI | n.361C= c.1193C= (p.Pro398=) c.323C= (p.Pro108=) c.701C= (p.Pro234=) | |
| 1 | g.2303382C>G | CA337954624 | SKI | n.361C>G c.1193C>G (p.Pro398Arg) c.323C>G (p.Pro108Arg) c.701C>G (p.Pro234Arg) | |
| 1 | g.2303382C>T | CA337954625 | SKI | n.361C>T c.1193C>T (p.Pro398Leu) c.323C>T (p.Pro108Leu) c.701C>T (p.Pro234Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303383G>A | CA536611 | SKI | n.362G>A c.1194G>A (p.Pro398=) c.324G>A (p.Pro108=) c.702G>A (p.Pro234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.2303383G>C | CA415774596 | SKI | n.362G>C c.1194G>C (p.Pro398=) c.324G>C (p.Pro108=) c.702G>C (p.Pro234=) | |
| 1 | g.2303383G= | CA1143974389 | SKI | n.362G= c.1194G= (p.Pro398=) c.324G= (p.Pro108=) c.702G= (p.Pro234=) | |
| 1 | g.2303383G>T | CA415774597 | SKI | n.362G>T c.1194G>T (p.Pro398=) c.324G>T (p.Pro108=) c.702G>T (p.Pro234=) | |
| 1 | g.2303384G>A | CA337954628 | SKI | n.363G>A c.1195G>A (p.Ala399Thr) c.325G>A (p.Ala109Thr) c.703G>A (p.Ala235Thr) | COSMIC |
| 1 | g.2303384G>C | CA337954630 | SKI | n.363G>C c.1195G>C (p.Ala399Pro) c.325G>C (p.Ala109Pro) c.703G>C (p.Ala235Pro) | |
| 1 | g.2303384G>T | CA337954631 | SKI | n.363G>T c.1195G>T (p.Ala399Ser) c.325G>T (p.Ala109Ser) c.703G>T (p.Ala235Ser) | |
| 1 | g.2303385C>A | CA337954633 | SKI | n.364C>A c.1196C>A (p.Ala399Asp) c.326C>A (p.Ala109Asp) c.704C>A (p.Ala235Asp) | |
| 1 | g.2303385C= | CA1141830637 | SKI | n.364C= c.1196C= (p.Ala399=) c.326C= (p.Ala109=) c.704C= (p.Ala235=) | |
| 1 | g.2303385C>G | CA337954635 | SKI | n.364C>G c.1196C>G (p.Ala399Gly) c.326C>G (p.Ala109Gly) c.704C>G (p.Ala235Gly) | |
| 1 | g.2303385C>T | CA319952 | SKI | n.364C>T c.1196C>T (p.Ala399Val) c.326C>T (p.Ala109Val) c.704C>T (p.Ala235Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303386C>A | CA16603511 | SKI | n.365C>A c.1197C>A (p.Ala399=) c.327C>A (p.Ala109=) c.705C>A (p.Ala235=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303386C= | CA1149512190 | SKI | n.365C= c.1197C= (p.Ala399=) c.327C= (p.Ala109=) c.705C= (p.Ala235=) | |
| 1 | g.2303386C>G | CA415774604 | SKI | n.365C>G c.1197C>G (p.Ala399=) c.327C>G (p.Ala109=) c.705C>G (p.Ala235=) | |
| 1 | g.2303386C>T | CA415774605 | SKI | n.365C>T c.1197C>T (p.Ala399=) c.327C>T (p.Ala109=) c.705C>T (p.Ala235=) | |
| 1 | g.2303387C>A | CA337954636 | SKI | n.366C>A c.1198C>A (p.Leu400Ile) c.328C>A (p.Leu110Ile) c.706C>A (p.Leu236Ile) | |
| 1 | g.2303387C= | CA1149512191 | SKI | n.366C= c.1198C= (p.Leu400=) c.328C= (p.Leu110=) c.706C= (p.Leu236=) | |
| 1 | g.2303387C>G | CA337954637 | SKI | n.366C>G c.1198C>G (p.Leu400Val) c.328C>G (p.Leu110Val) c.706C>G (p.Leu236Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303387C>T | CA337954638 | SKI | n.366C>T c.1198C>T (p.Leu400Phe) c.328C>T (p.Leu110Phe) c.706C>T (p.Leu236Phe) | ClinVar dbSNP |
| 1 | g.2303388T>A | CA337954640 | SKI | n.367T>A c.1199T>A (p.Leu400His) c.329T>A (p.Leu110His) c.707T>A (p.Leu236His) | |
| 1 | g.2303388T>C | CA337954642 | SKI | n.367T>C c.1199T>C (p.Leu400Pro) c.329T>C (p.Leu110Pro) c.707T>C (p.Leu236Pro) | |
| 1 | g.2303388T>G | CA337954643 | SKI | n.367T>G c.1199T>G (p.Leu400Arg) c.329T>G (p.Leu110Arg) c.707T>G (p.Leu236Arg) | |
| 1 | g.2303389C>A | CA415774610 | SKI | n.368C>A c.1200C>A (p.Leu400=) c.330C>A (p.Leu110=) c.708C>A (p.Leu236=) | |
| 1 | g.2303389C= | CA1149512193 | SKI | n.368C= c.1200C= (p.Leu400=) c.330C= (p.Leu110=) c.708C= (p.Leu236=) | |
| 1 | g.2303389C>G | CA415774611 | SKI | n.368C>G c.1200C>G (p.Leu400=) c.330C>G (p.Leu110=) c.708C>G (p.Leu236=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303389C>T | CA415774613 | SKI | n.368C>T c.1200C>T (p.Leu400=) c.330C>T (p.Leu110=) c.708C>T (p.Leu236=) | |
| 1 | g.2303390A>C | CA337954645 | SKI | n.369A>C c.1201A>C (p.Ile401Leu) c.331A>C (p.Ile111Leu) c.709A>C (p.Ile237Leu) | |
| 1 | g.2303390A>G | CA337954646 | SKI | n.369A>G c.1201A>G (p.Ile401Val) c.331A>G (p.Ile111Val) c.709A>G (p.Ile237Val) | |
| 1 | g.2303390A>T | CA337954647 | SKI | n.369A>T c.1201A>T (p.Ile401Phe) c.331A>T (p.Ile111Phe) c.709A>T (p.Ile237Phe) | |
| 1 | g.2303391T>A | CA337954648 | SKI | n.370T>A c.1202T>A (p.Ile401Asn) c.332T>A (p.Ile111Asn) c.710T>A (p.Ile237Asn) | |
| 1 | g.2303391T>C | CA337954650 | SKI | n.370T>C c.1202T>C (p.Ile401Thr) c.332T>C (p.Ile111Thr) c.710T>C (p.Ile237Thr) | |
| 1 | g.2303391T>G | CA337954652 | SKI | n.370T>G c.1202T>G (p.Ile401Ser) c.332T>G (p.Ile111Ser) c.710T>G (p.Ile237Ser) | |
| 1 | g.2303392C>A | CA415774616 | SKI | n.371C>A c.1203C>A (p.Ile401=) c.333C>A (p.Ile111=) c.711C>A (p.Ile237=) | |
| 1 | g.2303392C>G | CA337954653 | SKI | n.371C>G c.1203C>G (p.Ile401Met) c.333C>G (p.Ile111Met) c.711C>G (p.Ile237Met) | |
| 1 | g.2303392C>T | CA415774617 | SKI | n.371C>T c.1203C>T (p.Ile401=) c.333C>T (p.Ile111=) c.711C>T (p.Ile237=) | |
| 1 | g.2303393C>A | CA415774618 | SKI | n.372C>A c.1204C>A (p.Arg402=) c.334C>A (p.Arg112=) c.712C>A (p.Arg238=) | |
| 1 | g.2303393C= | CA1149512194 | SKI | n.372C= c.1204C= (p.Arg402=) c.334C= (p.Arg112=) c.712C= (p.Arg238=) | |
| 1 | g.2303393C>G | CA337954656 | SKI | n.372C>G c.1204C>G (p.Arg402Gly) c.334C>G (p.Arg112Gly) c.712C>G (p.Arg238Gly) | ClinVar dbSNP |
| 1 | g.2303393C>T | CA337954655 | SKI | n.372C>T c.1204C>T (p.Arg402Ter) c.334C>T (p.Arg112Ter) c.712C>T (p.Arg238Ter) | gnomAD v4 |
| 1 | g.2303394G>A | CA536612 | SKI | n.373G>A c.1205G>A (p.Arg402Gln) c.335G>A (p.Arg112Gln) c.713G>A (p.Arg238Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303394G>C | CA337954657 | SKI | n.373G>C c.1205G>C (p.Arg402Pro) c.335G>C (p.Arg112Pro) c.713G>C (p.Arg238Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303394G= | CA1146522963 | SKI | n.373G= c.1205G= (p.Arg402=) c.335G= (p.Arg112=) c.713G= (p.Arg238=) | |
| 1 | g.2303394G>T | CA337954659 | SKI | n.373G>T c.1205G>T (p.Arg402Leu) c.335G>T (p.Arg112Leu) c.713G>T (p.Arg238Leu) | |
| 1 | g.2303395A= | CA1149512201 | SKI | n.374A= c.1206A= (p.Arg402=) c.336A= (p.Arg112=) c.714A= (p.Arg238=) | |
| 1 | g.2303395A>C | CA415774626 | SKI | n.374A>C c.1206A>C (p.Arg402=) c.336A>C (p.Arg112=) c.714A>C (p.Arg238=) | |
| 1 | g.2303395A>G | CA415774625 | SKI | n.374A>G c.1206A>G (p.Arg402=) c.336A>G (p.Arg112=) c.714A>G (p.Arg238=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303395A>T | CA415774627 | SKI | n.374A>T c.1206A>T (p.Arg402=) c.336A>T (p.Arg112=) c.714A>T (p.Arg238=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303396G>A | CA337954660 | SKI | n.375G>A c.1207G>A (p.Asp403Asn) c.337G>A (p.Asp113Asn) c.715G>A (p.Asp239Asn) | |
| 1 | g.2303396G>C | CA337954662 | SKI | n.375G>C c.1207G>C (p.Asp403His) c.337G>C (p.Asp113His) c.715G>C (p.Asp239His) | gnomAD v4 |
| 1 | g.2303396G>T | CA337954663 | SKI | n.375G>T c.1207G>T (p.Asp403Tyr) c.337G>T (p.Asp113Tyr) c.715G>T (p.Asp239Tyr) | |
| 1 | g.2303397A= | CA1149512206 | SKI | n.376A= c.1208A= (p.Asp403=) c.338A= (p.Asp113=) c.716A= (p.Asp239=) | |
| 1 | g.2303397A>C | CA337954668 | SKI | n.376A>C c.1208A>C (p.Asp403Ala) c.338A>C (p.Asp113Ala) c.716A>C (p.Asp239Ala) | ClinVar |
| 1 | g.2303397A>G | CA337954665 | SKI | n.376A>G c.1208A>G (p.Asp403Gly) c.338A>G (p.Asp113Gly) c.716A>G (p.Asp239Gly) | dbSNP gnomAD v4 |
| 1 | g.2303397A>T | CA337954666 | SKI | n.376A>T c.1208A>T (p.Asp403Val) c.338A>T (p.Asp113Val) c.716A>T (p.Asp239Val) | |
| 1 | g.2303398C>A | CA337954669 | SKI | n.377C>A c.1209C>A (p.Asp403Glu) c.339C>A (p.Asp113Glu) c.717C>A (p.Asp239Glu) | |
| 1 | g.2303398C= | CA1149512208 | SKI | n.377C= c.1209C= (p.Asp403=) c.339C= (p.Asp113=) c.717C= (p.Asp239=) | |
| 1 | g.2303398C>G | CA337954671 | SKI | n.377C>G c.1209C>G (p.Asp403Glu) c.339C>G (p.Asp113Glu) c.717C>G (p.Asp239Glu) | |
| 1 | g.2303398C>T | CA415774634 | SKI | n.377C>T c.1209C>T (p.Asp403=) c.339C>T (p.Asp113=) c.717C>T (p.Asp239=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.2303399A>C | CA337954672 | SKI | n.378A>C c.1210A>C (p.Ser404Arg) c.340A>C (p.Ser114Arg) c.718A>C (p.Ser240Arg) | |
| 1 | g.2303399A>G | CA337954674 | SKI | n.378A>G c.1210A>G (p.Ser404Gly) c.340A>G (p.Ser114Gly) c.718A>G (p.Ser240Gly) | |
| 1 | g.2303399A>T | CA337954676 | SKI | n.378A>T c.1210A>T (p.Ser404Cys) c.340A>T (p.Ser114Cys) c.718A>T (p.Ser240Cys) | |
| 1 | g.2303400G>A | CA337954678 | SKI | n.379G>A c.1211G>A (p.Ser404Asn) c.341G>A (p.Ser114Asn) c.719G>A (p.Ser240Asn) | |
| 1 | g.2303400G>C | CA337954680 | SKI | n.379G>C c.1211G>C (p.Ser404Thr) c.341G>C (p.Ser114Thr) c.719G>C (p.Ser240Thr) | |
| 1 | g.2303400G>T | CA337954679 | SKI | n.379G>T c.1211G>T (p.Ser404Ile) c.341G>T (p.Ser114Ile) c.719G>T (p.Ser240Ile) | |
| 1 | g.2303400_2303401insCTTCTACTCCTACAAGAGCTTTGAGACAGCC | CA2642721413 | SKI | n.379_379+1insCTTCTACTCCTACAAGAGCTTTGAGACAGCC c.1211_1211+1insCTTCTACTCCTACAAGAGCTTTGAGACAGCC (n.1211_1211+1insCTTCTACTCCTACAAGAGCTTTGAGACAGCC) c.341_341+1insCTTCTACTCCTACAAGAGCTTTGAGACAGCC (n.341_341+1insCTTCTACTCCTACAAGAGCTTTGAGACAGCC) c.719_719+1insCTTCTACTCCTACAAGAGCTTTGAGACAGCC (n.719_719+1insCTTCTACTCCTACAAGAGCTTTGAGACAGCC) | gnomAD v4 |
| 1 | g.2303401G>A | CA337954682 | SKI | n.379+1G>A c.1211+1G>A (n.1211+1G>A) c.341+1G>A (n.341+1G>A) c.719+1G>A (n.719+1G>A) | dbSNP gnomAD v2 |
| 1 | g.2303401G>C | CA337954686 | SKI | n.379+1G>C c.1211+1G>C (n.1211+1G>C) c.341+1G>C (n.341+1G>C) c.719+1G>C (n.719+1G>C) | |
| 1 | g.2303401G= | CA1149512212 | SKI | n.379+1G= c.1211+1G= (n.1211+1G=) c.341+1G= (n.341+1G=) c.719+1G= (n.719+1G=) | |
| 1 | g.2303401G>T | CA337954684 | SKI | n.379+1G>T c.1211+1G>T (n.1211+1G>T) c.341+1G>T (n.341+1G>T) c.719+1G>T (n.719+1G>T) | gnomAD v4 |
| 1 | g.2303402T>A | CA337954687 | SKI | n.379+2T>A c.1211+2T>A (n.1211+2T>A) c.341+2T>A (n.341+2T>A) c.719+2T>A (n.719+2T>A) | |
| 1 | g.2303402T>C | CA337954689 | SKI | n.379+2T>C c.1211+2T>C (n.1211+2T>C) c.341+2T>C (n.341+2T>C) c.719+2T>C (n.719+2T>C) | |
| 1 | g.2303402T>G | CA536613 | SKI | n.379+2T>G c.1211+2T>G (n.1211+2T>G) c.341+2T>G (n.341+2T>G) c.719+2T>G (n.719+2T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303402T= | CA1149512215 | SKI | n.379+2T= c.1211+2T= (n.1211+2T=) c.341+2T= (n.341+2T=) c.719+2T= (n.719+2T=) | |
| 1 | g.2303403G>T | CA2642721414 | SKI | n.379+3G>T c.1211+3G>T (n.1211+3G>T) c.341+3G>T (n.341+3G>T) c.719+3G>T (n.719+3G>T) | gnomAD v4 |
| 1 | g.2303404A= | CA1149512218 | SKI | n.379+4A= c.1211+4A= (n.1211+4A=) c.341+4A= (n.341+4A=) c.719+4A= (n.719+4A=) | |
| 1 | g.2303404A>C | CA732596404 | SKI | n.379+4A>C c.1211+4A>C (n.1211+4A>C) c.341+4A>C (n.341+4A>C) c.719+4A>C (n.719+4A>C) | dbSNP |
| 1 | g.2303404A>T | CA2642721415 | SKI | n.379+4A>T c.1211+4A>T (n.1211+4A>T) c.341+4A>T (n.341+4A>T) c.719+4A>T (n.719+4A>T) | gnomAD v4 |
| 1 | g.2303405G>A | CA2642721416 | SKI | n.379+5G>A c.1211+5G>A (n.1211+5G>A) c.341+5G>A (n.341+5G>A) c.719+5G>A (n.719+5G>A) | gnomAD v4 |
| 1 | g.2303406T>G | CA1149512220 | SKI | n.379+6T>G c.1211+6T>G (n.1211+6T>G) c.341+6T>G (n.341+6T>G) c.719+6T>G (n.719+6T>G) | dbSNP gnomAD v4 |
| 1 | g.2303406T= | CA1149512219 | SKI | n.379+6T= c.1211+6T= (n.1211+6T=) c.341+6T= (n.341+6T=) c.719+6T= (n.719+6T=) | |
| 1 | g.2303407G>A | CA2642721418 | SKI | n.379+7G>A c.1211+7G>A (n.1211+7G>A) c.341+7G>A (n.341+7G>A) c.719+7G>A (n.719+7G>A) | gnomAD v4 |
| 1 | g.2303407G>C | CA2642721419 | SKI | n.379+7G>C c.1211+7G>C (n.1211+7G>C) c.341+7G>C (n.341+7G>C) c.719+7G>C (n.719+7G>C) | gnomAD v4 |
| 1 | g.2303407G= | CA1149512222 | SKI | n.379+7G= c.1211+7G= (n.1211+7G=) c.341+7G= (n.341+7G=) c.719+7G= (n.719+7G=) | |
| 1 | g.2303407G>T | CA536615 | SKI | n.379+7G>T c.1211+7G>T (n.1211+7G>T) c.341+7G>T (n.341+7G>T) c.719+7G>T (n.719+7G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.2303409dup | CA536614 | SKI | n.379+9dup c.1211+9dup (n.1211+9dup) c.341+9dup (n.341+9dup) c.719+9dup (n.719+9dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303409del | CA2642721417 | SKI | n.379+9del c.1211+9del (n.1211+9del) c.341+9del (n.341+9del) c.719+9del (n.719+9del) | gnomAD v4 |
| 1 | g.2303408G>C | CA521013659 | SKI | n.379+8G>C c.1211+8G>C (n.1211+8G>C) c.341+8G>C (n.341+8G>C) c.719+8G>C (n.719+8G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2303408G= | CA1149512225 | SKI | n.379+8G= c.1211+8G= (n.1211+8G=) c.341+8G= (n.341+8G=) c.719+8G= (n.719+8G=) | |
| 1 | g.2303409G>A | CA2642721420 | SKI | n.379+9G>A c.1211+9G>A (n.1211+9G>A) c.341+9G>A (n.341+9G>A) c.719+9G>A (n.719+9G>A) | gnomAD v4 |
| 1 | g.2303409G= | CA1147775359 | SKI | n.379+9G= c.1211+9G= (n.1211+9G=) c.341+9G= (n.341+9G=) c.719+9G= (n.719+9G=) | |
| 1 | g.2303409G>T | CA16895672 | SKI | n.379+9G>T c.1211+9G>T (n.1211+9G>T) c.341+9G>T (n.341+9G>T) c.719+9G>T (n.719+9G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2303410C>A | CA2574178314 | SKI | n.379+10C>A c.1211+10C>A (n.1211+10C>A) c.341+10C>A (n.341+10C>A) c.719+10C>A (n.719+10C>A) | gnomAD v4 |
| 1 | g.2303410C= | CA1143404254 | SKI | n.379+10C= c.1211+10C= (n.1211+10C=) c.341+10C= (n.341+10C=) c.719+10C= (n.719+10C=) | |
| 1 | g.2303410C>T | CA324972 | SKI | n.379+10C>T c.1211+10C>T (n.1211+10C>T) c.341+10C>T (n.341+10C>T) c.719+10C>T (n.719+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |