Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626000del | CA915952824 | ARSA | c.1046del (p.Pro349HisfsTer?) c.788del (p.Pro263HisfsTer?) c.1046del (p.Pro349HisfsTer26) | ClinVar dbSNP |
22 | g.50626000G>A | CA412171888 | ARSA | c.1043C>T (p.Ala348Val) c.785C>T (p.Ala262Val) | gnomAD v4 |
22 | g.50626000G>C | CA412171902 | ARSA | c.1043C>G (p.Ala348Gly) c.785C>G (p.Ala262Gly) | |
22 | g.50626000G>T | CA412171905 | ARSA | c.1043C>A (p.Ala348Asp) c.785C>A (p.Ala262Asp) | gnomAD v4 |
22 | g.50626001C>A | CA412171911 | ARSA | c.1042G>T (p.Ala348Ser) c.784G>T (p.Ala262Ser) | gnomAD v4 |
22 | g.50626001C>G | CA412171923 | ARSA | c.1042G>C (p.Ala348Pro) c.784G>C (p.Ala262Pro) | |
22 | g.50626001C>T | CA412171916 | ARSA | c.1042G>A (p.Ala348Thr) c.784G>A (p.Ala262Thr) | |
22 | g.50626002C>A | CA515248872 | ARSA | c.1041G>T (p.Gly347=) c.783G>T (p.Gly261=) | gnomAD v4 |
22 | g.50626002C= | CA2410958786 | ARSA | c.1041G= (p.Gly347=) c.783G= (p.Gly261=) | |
22 | g.50626002C>G | CA515248873 | ARSA | c.1041G>C (p.Gly347=) c.783G>C (p.Gly261=) | |
22 | g.50626002C>T | CA515248874 | ARSA | c.1041G>A (p.Gly347=) c.783G>A (p.Gly261=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626003C>A | CA412171946 | ARSA | c.1040G>T (p.Gly347Val) c.782G>T (p.Gly261Val) | gnomAD v4 |
22 | g.50626003C= | CA2410958787 | ARSA | c.1040G= (p.Gly347=) c.782G= (p.Gly261=) | |
22 | g.50626003C>G | CA412171953 | ARSA | c.1040G>C (p.Gly347Ala) c.782G>C (p.Gly261Ala) | |
22 | g.50626003C>T | CA412171954 | ARSA | c.1040G>A (p.Gly347Glu) c.782G>A (p.Gly261Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626004C>A | CA412171957 | ARSA | c.1039G>T (p.Gly347Trp) c.781G>T (p.Gly261Trp) | gnomAD v4 |
22 | g.50626004C= | CA2410958788 | ARSA | c.1039G= (p.Gly347=) c.781G= (p.Gly261=) | |
22 | g.50626004C>G | CA412171961 | ARSA | c.1039G>C (p.Gly347Arg) c.781G>C (p.Gly261Arg) | |
22 | g.50626004C>T | CA412171963 | ARSA | c.1039G>A (p.Gly347Arg) c.781G>A (p.Gly261Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626005A>C | CA515248875 | ARSA | c.1038T>G (p.Ala346=) c.780T>G (p.Ala260=) | |
22 | g.50626005A>G | CA515248876 | ARSA | c.1038T>C (p.Ala346=) c.780T>C (p.Ala260=) | |
22 | g.50626005A>T | CA515248877 | ARSA | c.1038T>A (p.Ala346=) c.780T>A (p.Ala260=) | |
22 | g.50626006G>A | CA412171967 | ARSA | c.1037C>T (p.Ala346Val) c.779C>T (p.Ala260Val) | |
22 | g.50626006G>C | CA412171975 | ARSA | c.1037C>G (p.Ala346Gly) c.779C>G (p.Ala260Gly) | dbSNP gnomAD v2 |
22 | g.50626006G= | CA2410958789 | ARSA | c.1037C= (p.Ala346=) c.779C= (p.Ala260=) | |
22 | g.50626006G>T | CA412171978 | ARSA | c.1037C>A (p.Ala346Asp) c.779C>A (p.Ala260Asp) | gnomAD v4 |
22 | g.50626006_50626007del | CA913088703 | ARSA | c.1036_1037del (p.Ala346TrpfsTer13) c.778_779del (p.Ala260TrpfsTer13) | |
22 | g.50626006_50626007delinsGC | CA2410958790 | ARSA | c.1036_1037delinsGC (p.Ala346=) c.778_779delinsGC (p.Ala260=) | |
22 | g.50626007C>A | CA412171999 | ARSA | c.1036G>T (p.Ala346Ser) c.778G>T (p.Ala260Ser) | gnomAD v4 |
22 | g.50626007C>G | CA412172002 | ARSA | c.1036G>C (p.Ala346Pro) c.778G>C (p.Ala260Pro) | |
22 | g.50626007C>T | CA412171984 | ARSA | c.1036G>A (p.Ala346Thr) c.778G>A (p.Ala260Thr) | gnomAD v4 |
22 | g.50626008del | CA658824684 | ARSA | c.1036del (p.Ala346LeufsTer?) c.778del (p.Ala260LeufsTer?) c.1036del (p.Ala346LeufsTer29) | ClinVar dbSNP |
22 | g.50626008C>A | CA515248878 | ARSA | c.1035G>T (p.Leu345=) c.777G>T (p.Leu259=) | |
22 | g.50626008C>G | CA515248879 | ARSA | c.1035G>C (p.Leu345=) c.777G>C (p.Leu259=) | ClinVar dbSNP |
22 | g.50626008C>T | CA515248880 | ARSA | c.1035G>A (p.Leu345=) c.777G>A (p.Leu259=) | |
22 | g.50626009A>C | CA412172009 | ARSA | c.1034T>G (p.Leu345Arg) c.776T>G (p.Leu259Arg) | |
22 | g.50626009A>G | CA412172018 | ARSA | c.1034T>C (p.Leu345Pro) c.776T>C (p.Leu259Pro) | |
22 | g.50626009A>T | CA412172023 | ARSA | c.1034T>A (p.Leu345Gln) c.776T>A (p.Leu259Gln) | |
22 | g.50626009_50626010delinsAG | CA2410958791 | ARSA | c.1033_1034delinsCT (p.Leu345=) c.775_776delinsCT (p.Leu259=) | |
22 | g.50626010G>A | CA515248882 | ARSA | c.1033C>T (p.Leu345=) c.775C>T (p.Leu259=) | ClinVar |
22 | g.50626010G>C | CA10324838 | ARSA | c.1033C>G (p.Leu345Val) c.775C>G (p.Leu259Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626010G= | CA2410958792 | ARSA | c.1033C= (p.Leu345=) c.775C= (p.Leu259=) | |
22 | g.50626010G>T | CA412172027 | ARSA | c.1033C>A (p.Leu345Met) c.775C>A (p.Leu259Met) | gnomAD v4 |
22 | g.50626012del | CA754068495 | ARSA | c.1033del (p.Leu345TrpfsTer?) c.775del (p.Leu259TrpfsTer?) c.1033del (p.Leu345TrpfsTer30) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626011G>A | CA515248884 | ARSA | c.1032C>T (p.Ala344=) c.774C>T (p.Ala258=) | |
22 | g.50626011G>C | CA515248885 | ARSA | c.1032C>G (p.Ala344=) c.774C>G (p.Ala258=) | |
22 | g.50626011G>T | CA515248883 | ARSA | c.1032C>A (p.Ala344=) c.774C>A (p.Ala258=) | gnomAD v4 |
22 | g.50626012G>A | CA412172031 | ARSA | c.1031C>T (p.Ala344Val) c.773C>T (p.Ala258Val) | dbSNP gnomAD v4 |
22 | g.50626012G>C | CA412172038 | ARSA | c.1031C>G (p.Ala344Gly) c.773C>G (p.Ala258Gly) | |
22 | g.50626012G= | CA2410958793 | ARSA | c.1031C= (p.Ala344=) c.773C= (p.Ala258=) |