Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50625959_50625961delinsGGC | CA2410958758 | ARSA | c.1082_1084delinsGCC (p.Ser361=) c.824_826delinsGCC (p.Ser275=) | |
22 | g.50625960_50625961del | CA2410958760 | ARSA | c.1082_1083del (p.Ser361ThrfsTer?) c.824_825del (p.Ser275ThrfsTer?) | dbSNP |
22 | g.50625961C>A | CA412171417 | ARSA | c.1082G>T (p.Ser361Ile) c.824G>T (p.Ser275Ile) | gnomAD v4 |
22 | g.50625961C= | CA2410958761 | ARSA | c.1082G= (p.Ser361=) c.824G= (p.Ser275=) | |
22 | g.50625961C>G | CA412171428 | ARSA | c.1082G>C (p.Ser361Thr) c.824G>C (p.Ser275Thr) | |
22 | g.50625961C>T | CA412171407 | ARSA | c.1082G>A (p.Ser361Asn) c.824G>A (p.Ser275Asn) | dbSNP |
22 | g.50625962T>A | CA412171433 | ARSA | c.1081A>T (p.Ser361Cys) c.823A>T (p.Ser275Cys) | |
22 | g.50625962T>C | CA412171430 | ARSA | c.1081A>G (p.Ser361Gly) c.823A>G (p.Ser275Gly) | |
22 | g.50625962T>G | CA412171431 | ARSA | c.1081A>C (p.Ser361Arg) c.823A>C (p.Ser275Arg) | |
22 | g.50625963G>A | CA515248845 | ARSA | c.1080C>T (p.Leu360=) c.822C>T (p.Leu274=) | gnomAD v4 |
22 | g.50625963G>C | CA515248843 | ARSA | c.1080C>G (p.Leu360=) c.822C>G (p.Leu274=) | |
22 | g.50625963G>T | CA515248844 | ARSA | c.1080C>A (p.Leu360=) c.822C>A (p.Leu274=) | |
22 | g.50625964A= | CA2410958763 | ARSA | c.1079T= (p.Leu360=) c.821T= (p.Leu274=) | |
22 | g.50625964A>C | CA412171437 | ARSA | c.1079T>G (p.Leu360Arg) c.821T>G (p.Leu274Arg) | |
22 | g.50625964A>G | CA412171445 | ARSA | c.1079T>C (p.Leu360Pro) c.821T>C (p.Leu274Pro) | ClinVar dbSNP |
22 | g.50625964A>T | CA412171448 | ARSA | c.1079T>A (p.Leu360His) c.821T>A (p.Leu274His) | |
22 | g.50625964_50625965delinsAG | CA2410958762 | ARSA | c.1078_1079delinsCT (p.Leu360=) c.820_821delinsCT (p.Leu274=) | |
22 | g.50625965G>A | CA412171454 | ARSA | c.1078C>T (p.Leu360Phe) c.820C>T (p.Leu274Phe) | |
22 | g.50625965G>C | CA412171466 | ARSA | c.1078C>G (p.Leu360Val) c.820C>G (p.Leu274Val) | gnomAD v4 |
22 | g.50625965G= | CA2410958765 | ARSA | c.1078C= (p.Leu360=) c.820C= (p.Leu274=) | |
22 | g.50625965G>T | CA412171469 | ARSA | c.1078C>A (p.Leu360Ile) c.820C>A (p.Leu274Ile) | dbSNP gnomAD v4 |
22 | g.50625966del | CA920392348 | ARSA | c.1078del (p.Leu360SerfsTer?) c.820del (p.Leu274SerfsTer?) c.1078del (p.Leu360SerfsTer15) | dbSNP |
22 | g.50625965_50625967delinsGGT | CA2410958764 | ARSA | c.1076_1078delinsACC (p.Asp359=) c.818_820delinsACC (p.Asp273=) | |
22 | g.50625966G>A | CA325531311 | ARSA | c.1077C>T (p.Asp359=) c.819C>T (p.Asp273=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50625966G>C | CA412171472 | ARSA | c.1077C>G (p.Asp359Glu) c.819C>G (p.Asp273Glu) | |
22 | g.50625966G= | CA2410958766 | ARSA | c.1077C= (p.Asp359=) c.819C= (p.Asp273=) | |
22 | g.50625966G>T | CA412171476 | ARSA | c.1077C>A (p.Asp359Glu) c.819C>A (p.Asp273Glu) | |
22 | g.50625966_50625967del | CA754068402 | ARSA | c.1076_1077del (p.Asp359AlafsTer?) c.818_819del (p.Asp273AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625967T>A | CA412171489 | ARSA | c.1076A>T (p.Asp359Val) c.818A>T (p.Asp273Val) | |
22 | g.50625967T>C | CA412171493 | ARSA | c.1076A>G (p.Asp359Gly) c.818A>G (p.Asp273Gly) | gnomAD v4 |
22 | g.50625967T>G | CA412171495 | ARSA | c.1076A>C (p.Asp359Ala) c.818A>C (p.Asp273Ala) | |
22 | g.50625968C>A | CA412171499 | ARSA | c.1075G>T (p.Asp359Tyr) c.817G>T (p.Asp273Tyr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625968C= | CA2410958767 | ARSA | c.1075G= (p.Asp359=) c.817G= (p.Asp273=) | |
22 | g.50625968C>G | CA412171501 | ARSA | c.1075G>C (p.Asp359His) c.817G>C (p.Asp273His) | |
22 | g.50625968C>T | CA412171500 | ARSA | c.1075G>A (p.Asp359Asn) c.817G>A (p.Asp273Asn) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50625969A>C | CA412171503 | ARSA | c.1074T>G (p.Phe358Leu) c.816T>G (p.Phe272Leu) | |
22 | g.50625969A>G | CA515248846 | ARSA | c.1074T>C (p.Phe358=) c.816T>C (p.Phe272=) | |
22 | g.50625969A>T | CA412171516 | ARSA | c.1074T>A (p.Phe358Leu) c.816T>A (p.Phe272Leu) | |
22 | g.50625969_50625973delinsAAAGC | CA2410958768 | ARSA | c.1070_1074delinsGCTTT (p.Gly357=) c.812_816delinsGCTTT (p.Gly271=) | |
22 | g.50625970A>C | CA412171519 | ARSA | c.1073T>G (p.Phe358Cys) c.815T>G (p.Phe272Cys) | |
22 | g.50625970A>G | CA412171523 | ARSA | c.1073T>C (p.Phe358Ser) c.815T>C (p.Phe272Ser) | |
22 | g.50625970A>T | CA412171527 | ARSA | c.1073T>A (p.Phe358Tyr) c.815T>A (p.Phe272Tyr) | |
22 | g.50625970_50625973del | CA1026680566 | ARSA | c.1070_1073del (p.Gly357ValfsTer?) c.812_815del (p.Gly271ValfsTer?) c.1070_1073del (p.Gly357ValfsTer17) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625971A= | CA2410958769 | ARSA | c.1072T= (p.Phe358=) c.814T= (p.Phe272=) | |
22 | g.50625971A>C | CA325531313 | ARSA | c.1072T>G (p.Phe358Val) c.814T>G (p.Phe272Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50625971A>G | CA412171547 | ARSA | c.1072T>C (p.Phe358Leu) c.814T>C (p.Phe272Leu) | |
22 | g.50625971A>T | CA412171556 | ARSA | c.1072T>A (p.Phe358Ile) c.814T>A (p.Phe272Ile) | |
22 | g.50625972G>A | CA515248847 | ARSA | c.1071C>T (p.Gly357=) c.813C>T (p.Gly271=) | ClinVar dbSNP gnomAD v4 |
22 | g.50625972G>C | CA515248848 | ARSA | c.1071C>G (p.Gly357=) c.813C>G (p.Gly271=) | |
22 | g.50625972G= | CA2410958770 | ARSA | c.1071C= (p.Gly357=) c.813C= (p.Gly271=) |