Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626028G>A | CA515248902 | ARSA | c.1015C>T (p.Leu339=) c.757C>T (p.Leu253=) | ClinVar |
22 | g.50626028G>C | CA412172207 | ARSA | c.1015C>G (p.Leu339Val) c.757C>G (p.Leu253Val) | |
22 | g.50626028G>T | CA412172214 | ARSA | c.1015C>A (p.Leu339Met) c.757C>A (p.Leu253Met) | |
22 | g.50626029C>A | CA515248903 | ARSA | c.1014G>T (p.Leu338=) c.756G>T (p.Leu252=) | gnomAD v4 |
22 | g.50626029C>G | CA515248904 | ARSA | c.1014G>C (p.Leu338=) c.756G>C (p.Leu252=) | |
22 | g.50626029C>T | CA515248905 | ARSA | c.1014G>A (p.Leu338=) c.756G>A (p.Leu252=) | gnomAD v4 |
22 | g.50626030A>C | CA412172222 | ARSA | c.1013T>G (p.Leu338Arg) c.755T>G (p.Leu252Arg) | |
22 | g.50626030A>G | CA412172224 | ARSA | c.1013T>C (p.Leu338Pro) c.755T>C (p.Leu252Pro) | gnomAD v4 |
22 | g.50626030A>T | CA412172223 | ARSA | c.1013T>A (p.Leu338Gln) c.755T>A (p.Leu252Gln) | |
22 | g.50626031G>A | CA515248906 | ARSA | c.1012C>T (p.Leu338=) c.754C>T (p.Leu252=) | |
22 | g.50626031G>C | CA412172227 | ARSA | c.1012C>G (p.Leu338Val) c.754C>G (p.Leu252Val) | ClinVar dbSNP |
22 | g.50626031G>T | CA412172233 | ARSA | c.1012C>A (p.Leu338Met) c.754C>A (p.Leu252Met) | |
22 | g.50626032G>A | CA515248907 | ARSA | c.1011C>T (p.Asp337=) c.753C>T (p.Asp251=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626032G>C | CA412172238 | ARSA | c.1011C>G (p.Asp337Glu) c.753C>G (p.Asp251Glu) | |
22 | g.50626032G= | CA2410958801 | ARSA | c.1011C= (p.Asp337=) c.753C= (p.Asp251=) | |
22 | g.50626032G>T | CA412172255 | ARSA | c.1011C>A (p.Asp337Glu) c.753C>A (p.Asp251Glu) | gnomAD v4 |
22 | g.50626033T>A | CA115989 | ARSA | c.1010A>T (p.Asp337Val) c.752A>T (p.Asp251Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626033T>C | CA412172275 | ARSA | c.1010A>G (p.Asp337Gly) c.752A>G (p.Asp251Gly) | gnomAD v4 |
22 | g.50626033T>G | CA412172288 | ARSA | c.1010A>C (p.Asp337Ala) c.752A>C (p.Asp251Ala) | |
22 | g.50626033T= | CA2410958802 | ARSA | c.1010A= (p.Asp337=) c.752A= (p.Asp251=) | |
22 | g.50626034C>A | CA412172292 | ARSA | c.1009G>T (p.Asp337Tyr) c.751G>T (p.Asp251Tyr) | |
22 | g.50626034C>G | CA412172293 | ARSA | c.1009G>C (p.Asp337His) c.751G>C (p.Asp251His) | |
22 | g.50626034C>T | CA412172296 | ARSA | c.1009G>A (p.Asp337Asn) c.751G>A (p.Asp251Asn) | |
22 | g.50626035C>A | CA515248908 | ARSA | c.1008G>T (p.Leu336=) c.750G>T (p.Leu250=) | |
22 | g.50626035C>G | CA515248909 | ARSA | c.1008G>C (p.Leu336=) c.750G>C (p.Leu250=) | |
22 | g.50626035C>T | CA515248910 | ARSA | c.1008G>A (p.Leu336=) c.750G>A (p.Leu250=) | |
22 | g.50626036A= | CA2410958803 | ARSA | c.1007T= (p.Leu336=) c.749T= (p.Leu250=) | |
22 | g.50626036A>C | CA412172299 | ARSA | c.1007T>G (p.Leu336Arg) c.749T>G (p.Leu250Arg) | dbSNP |
22 | g.50626036A>G | CA412172304 | ARSA | c.1007T>C (p.Leu336Pro) c.749T>C (p.Leu250Pro) | ClinVar dbSNP gnomAD v4 |
22 | g.50626036A>T | CA412172318 | ARSA | c.1007T>A (p.Leu336Gln) c.749T>A (p.Leu250Gln) | |
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) |