Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626037G>A | CA10324840 | ARSA | c.1006C>T (p.Leu336=) c.748C>T (p.Leu250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626037G>C | CA412172336 | ARSA | c.1006C>G (p.Leu336Val) c.748C>G (p.Leu250Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626037G= | CA2410958804 | ARSA | c.1006C= (p.Leu336=) c.748C= (p.Leu250=) | |
22 | g.50626037G>T | CA412172339 | ARSA | c.1006C>A (p.Leu336Met) c.748C>A (p.Leu250Met) | gnomAD v4 |
22 | g.50626039del | CA2577767905 | ARSA | c.1006del (p.Leu336TrpfsTer?) c.748del (p.Leu250TrpfsTer?) | |
22 | g.50626038G>A | CA515248911 | ARSA | c.1005C>T (p.Ser335=) c.747C>T (p.Ser249=) | ClinVar dbSNP gnomAD v4 COSMIC |
22 | g.50626038G>C | CA515248912 | ARSA | c.1005C>G (p.Ser335=) c.747C>G (p.Ser249=) | ClinVar |
22 | g.50626038G= | CA2410958805 | ARSA | c.1005C= (p.Ser335=) c.747C= (p.Ser249=) | |
22 | g.50626038G>T | CA10324841 | ARSA | c.1005C>A (p.Ser335=) c.747C>A (p.Ser249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626039G>A | CA412172364 | ARSA | c.1004C>T (p.Ser335Phe) c.746C>T (p.Ser249Phe) | |
22 | g.50626039G>C | CA412172365 | ARSA | c.1004C>G (p.Ser335Cys) c.746C>G (p.Ser249Cys) | |
22 | g.50626039G>T | CA412172370 | ARSA | c.1004C>A (p.Ser335Tyr) c.746C>A (p.Ser249Tyr) | gnomAD v4 |
22 | g.50626040A>C | CA412172374 | ARSA | c.1003T>G (p.Ser335Ala) c.745T>G (p.Ser249Ala) | |
22 | g.50626040A>G | CA412172379 | ARSA | c.1003T>C (p.Ser335Pro) c.745T>C (p.Ser249Pro) | |
22 | g.50626040A>T | CA412172377 | ARSA | c.1003T>A (p.Ser335Thr) c.745T>A (p.Ser249Thr) | |
22 | g.50626044_50626051del | CA2657592206 | ARSA | c.996_1003del (p.Ala333ProfsTer24) c.738_745del (p.Ala247ProfsTer24) | gnomAD v4 |
22 | g.50626041G>A | CA10324842 | ARSA | c.1002C>T (p.Ser334=) c.744C>T (p.Ser248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626041G>C | CA412172384 | ARSA | c.1002C>G (p.Ser334Arg) c.744C>G (p.Ser248Arg) | |
22 | g.50626041G= | CA2410958806 | ARSA | c.1002C= (p.Ser334=) c.744C= (p.Ser248=) | |
22 | g.50626041G>T | CA412172386 | ARSA | c.1002C>A (p.Ser334Arg) c.744C>A (p.Ser248Arg) | |
22 | g.50626042C>A | CA412172395 | ARSA | c.1001G>T (p.Ser334Ile) c.743G>T (p.Ser248Ile) | gnomAD v4 |
22 | g.50626042C>G | CA412172396 | ARSA | c.1001G>C (p.Ser334Thr) c.743G>C (p.Ser248Thr) | |
22 | g.50626042C>T | CA412172397 | ARSA | c.1001G>A (p.Ser334Asn) c.743G>A (p.Ser248Asn) | gnomAD v4 |
22 | g.50626043T>A | CA412172401 | ARSA | c.1000A>T (p.Ser334Cys) c.742A>T (p.Ser248Cys) | |
22 | g.50626043T>C | CA412172402 | ARSA | c.1000A>G (p.Ser334Gly) c.742A>G (p.Ser248Gly) | dbSNP gnomAD v2 |
22 | g.50626043T>G | CA412172403 | ARSA | c.1000A>C (p.Ser334Arg) c.742A>C (p.Ser248Arg) | dbSNP gnomAD v2 |
22 | g.50626043T= | CA2410958807 | ARSA | c.1000A= (p.Ser334=) c.742A= (p.Ser248=) | |
22 | g.50626044G>A | CA10324844 | ARSA | c.999C>T (p.Ala333=) c.741C>T (p.Ala247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626044G>C | CA515248913 | ARSA | c.999C>G (p.Ala333=) c.741C>G (p.Ala247=) | gnomAD v4 |
22 | g.50626044G= | CA2410958808 | ARSA | c.999C= (p.Ala333=) c.741C= (p.Ala247=) | |
22 | g.50626044G>T | CA10324843 | ARSA | c.999C>A (p.Ala333=) c.741C>A (p.Ala247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626045G>A | CA412172421 | ARSA | c.998C>T (p.Ala333Val) c.740C>T (p.Ala247Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626045G>C | CA412172418 | ARSA | c.998C>G (p.Ala333Gly) c.740C>G (p.Ala247Gly) | |
22 | g.50626045G= | CA2410958809 | ARSA | c.998C= (p.Ala333=) c.740C= (p.Ala247=) | |
22 | g.50626045G>T | CA412172415 | ARSA | c.998C>A (p.Ala333Asp) c.740C>A (p.Ala247Asp) | gnomAD v4 |
22 | g.50626046C>A | CA412172425 | ARSA | c.997G>T (p.Ala333Ser) c.739G>T (p.Ala247Ser) | gnomAD v4 |
22 | g.50626046C>G | CA412172431 | ARSA | c.997G>C (p.Ala333Pro) c.739G>C (p.Ala247Pro) | |
22 | g.50626046C>T | CA412172437 | ARSA | c.997G>A (p.Ala333Thr) c.739G>A (p.Ala247Thr) | gnomAD v4 |
22 | g.50626047C>A | CA515248914 | ARSA | c.996G>T (p.Leu332=) c.738G>T (p.Leu246=) | gnomAD v4 |
22 | g.50626047C>G | CA515248915 | ARSA | c.996G>C (p.Leu332=) c.738G>C (p.Leu246=) | |
22 | g.50626047C>T | CA515248916 | ARSA | c.996G>A (p.Leu332=) c.738G>A (p.Leu246=) | |
22 | g.50626048A>C | CA412172471 | ARSA | c.995T>G (p.Leu332Arg) c.737T>G (p.Leu246Arg) | |
22 | g.50626048A>G | CA412172477 | ARSA | c.995T>C (p.Leu332Pro) c.737T>C (p.Leu246Pro) | gnomAD v4 |
22 | g.50626048A>T | CA412172490 | ARSA | c.995T>A (p.Leu332Gln) c.737T>A (p.Leu246Gln) | |
22 | g.50626049G>A | CA515248917 | ARSA | c.994C>T (p.Leu332=) c.736C>T (p.Leu246=) | gnomAD v4 |
22 | g.50626049G>C | CA412172498 | ARSA | c.994C>G (p.Leu332Val) c.736C>G (p.Leu246Val) | |
22 | g.50626049G>T | CA412172501 | ARSA | c.994C>A (p.Leu332Met) c.736C>A (p.Leu246Met) | gnomAD v4 COSMIC |
22 | g.50626050C>A | CA412172506 | ARSA | c.993G>T (p.Glu331Asp) c.735G>T (p.Glu245Asp) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626050C= | CA2410958810 | ARSA | c.993G= (p.Glu331=) c.735G= (p.Glu245=) | |
22 | g.50626050C>G | CA412172508 | ARSA | c.993G>C (p.Glu331Asp) c.735G>C (p.Glu245Asp) |