Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626226_50626302del | CA2657592490 | ARSA | c.855-24_907del c.597-24_649del | ClinVar gnomAD v4 |
22 | g.50626246C>A | CA412174879 | ARSA | c.887G>T (p.Cys296Phe) c.629G>T (p.Cys210Phe) | |
22 | g.50626246C= | CA2410958941 | ARSA | c.887G= (p.Cys296=) c.629G= (p.Cys210=) | |
22 | g.50626246C>G | CA412174881 | ARSA | c.887G>C (p.Cys296Ser) c.629G>C (p.Cys210Ser) | |
22 | g.50626246C>T | CA219068 | ARSA | c.887G>A (p.Cys296Tyr) c.629G>A (p.Cys210Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626247A>C | CA412174896 | ARSA | c.886T>G (p.Cys296Gly) c.628T>G (p.Cys210Gly) | |
22 | g.50626247A>G | CA412174908 | ARSA | c.886T>C (p.Cys296Arg) c.628T>C (p.Cys210Arg) | |
22 | g.50626247A>T | CA412174911 | ARSA | c.886T>A (p.Cys296Ser) c.628T>A (p.Cys210Ser) | |
22 | g.50626248G>A | CA515248992 | ARSA | c.885C>T (p.Gly295=) c.627C>T (p.Gly209=) | |
22 | g.50626248G>C | CA515248993 | ARSA | c.885C>G (p.Gly295=) c.627C>G (p.Gly209=) | |
22 | g.50626248G>T | CA515248994 | ARSA | c.885C>A (p.Gly295=) c.627C>A (p.Gly209=) | |
22 | g.50626249C>A | CA412174915 | ARSA | c.884G>T (p.Gly295Val) c.626G>T (p.Gly209Val) | |
22 | g.50626249C= | CA2410958942 | ARSA | c.884G= (p.Gly295=) c.626G= (p.Gly209=) | |
22 | g.50626249C>G | CA412174919 | ARSA | c.884G>C (p.Gly295Ala) c.626G>C (p.Gly209Ala) | |
22 | g.50626249C>T | CA219066 | ARSA | c.884G>A (p.Gly295Asp) c.626G>A (p.Gly209Asp) | ClinVar dbSNP |
22 | g.50626249_50626259delinsCCGCCTCGGGA | CA2410958943 | ARSA | c.874_884delinsTCCCGAGGCGG (p.Ser292=) c.616_626delinsTCCCGAGGCGG (p.Ser206=) | |
22 | g.50626250C>A | CA412174927 | ARSA | c.883G>T (p.Gly295Cys) c.625G>T (p.Gly209Cys) | |
22 | g.50626250C= | CA2410958944 | ARSA | c.883G= (p.Gly295=) c.625G= (p.Gly209=) | |
22 | g.50626250C>G | CA412174930 | ARSA | c.883G>C (p.Gly295Arg) c.625G>C (p.Gly209Arg) | |
22 | g.50626250C>T | CA219064 | ARSA | c.883G>A (p.Gly295Ser) c.625G>A (p.Gly209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626251_50626260del | CA1139667194 | ARSA | c.874_883del (p.Ser292AlafsTer?) c.616_625del (p.Ser206AlafsTer?) | ClinVar dbSNP |
22 | g.50626251G>A | CA10324887 | ARSA | c.882C>T (p.Gly294=) c.624C>T (p.Gly208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626251G>C | CA515248995 | ARSA | c.882C>G (p.Gly294=) c.624C>G (p.Gly208=) | |
22 | g.50626251G= | CA2410958945 | ARSA | c.882C= (p.Gly294=) c.624C= (p.Gly208=) | |
22 | g.50626251G>T | CA515248996 | ARSA | c.882C>A (p.Gly294=) c.624C>A (p.Gly208=) | |
22 | g.50626252C>A | CA412174946 | ARSA | c.881G>T (p.Gly294Val) c.623G>T (p.Gly208Val) | |
22 | g.50626252C>G | CA412174939 | ARSA | c.881G>C (p.Gly294Ala) c.623G>C (p.Gly208Ala) | |
22 | g.50626252C>T | CA412174941 | ARSA | c.881G>A (p.Gly294Asp) c.623G>A (p.Gly208Asp) | |
22 | g.50626253C>A | CA412174952 | ARSA | c.880G>T (p.Gly294Cys) c.622G>T (p.Gly208Cys) | |
22 | g.50626253C>G | CA412174955 | ARSA | c.880G>C (p.Gly294Arg) c.622G>C (p.Gly208Arg) | |
22 | g.50626253C>T | CA412174960 | ARSA | c.880G>A (p.Gly294Ser) c.622G>A (p.Gly208Ser) | |
22 | g.50626254T>A | CA515248997 | ARSA | c.879A>T (p.Arg293=) c.621A>T (p.Arg207=) | |
22 | g.50626254T>C | CA515248998 | ARSA | c.879A>G (p.Arg293=) c.621A>G (p.Arg207=) | |
22 | g.50626254T>G | CA515248999 | ARSA | c.879A>C (p.Arg293=) c.621A>C (p.Arg207=) | |
22 | g.50626255C>A | CA412174961 | ARSA | c.878G>T (p.Arg293Leu) c.620G>T (p.Arg207Leu) | |
22 | g.50626255C= | CA2410958946 | ARSA | c.878G= (p.Arg293=) c.620G= (p.Arg207=) | |
22 | g.50626255C>G | CA412174962 | ARSA | c.878G>C (p.Arg293Pro) c.620G>C (p.Arg207Pro) | gnomAD v4 |
22 | g.50626255C>T | CA10324888 | ARSA | c.878G>A (p.Arg293Gln) c.620G>A (p.Arg207Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626256G>A | CA412174968 | ARSA | c.877C>T (p.Arg293Ter) c.619C>T (p.Arg207Ter) | ClinVar dbSNP |
22 | g.50626256G>C | CA412174965 | ARSA | c.877C>G (p.Arg293Gly) c.619C>G (p.Arg207Gly) | gnomAD v4 |
22 | g.50626256G= | CA2410958947 | ARSA | c.877C= (p.Arg293=) c.619C= (p.Arg207=) | |
22 | g.50626256G>T | CA515249000 | ARSA | c.877C>A (p.Arg293=) c.619C>A (p.Arg207=) | |
22 | g.50626257G>A | CA515249002 | ARSA | c.876C>T (p.Ser292=) c.618C>T (p.Ser206=) | dbSNP gnomAD v2 |
22 | g.50626257G>C | CA515249003 | ARSA | c.876C>G (p.Ser292=) c.618C>G (p.Ser206=) | |
22 | g.50626257G= | CA2410958948 | ARSA | c.876C= (p.Ser292=) c.618C= (p.Ser206=) | |
22 | g.50626257G>T | CA515249001 | ARSA | c.876C>A (p.Ser292=) c.618C>A (p.Ser206=) | |
22 | g.50626258G>A | CA10324889 | ARSA | c.875C>T (p.Ser292Phe) c.617C>T (p.Ser206Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50626258G>C | CA412174980 | ARSA | c.875C>G (p.Ser292Cys) c.617C>G (p.Ser206Cys) | |
22 | g.50626258G= | CA2410958949 | ARSA | c.875C= (p.Ser292=) c.617C= (p.Ser206=) | |
22 | g.50626258G>T | CA412174983 | ARSA | c.875C>A (p.Ser292Tyr) c.617C>A (p.Ser206Tyr) |