| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626226_50626302del | CA2657592490 | ARSA | c.855-24_907del c.597-24_649del | gnomAD v4 |
| 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) | |
| 22 | g.50626259A>C | CA412174989 | ARSA | c.874T>G (p.Ser292Ala) c.616T>G (p.Ser206Ala) | |
| 22 | g.50626259A>G | CA412174992 | ARSA | c.874T>C (p.Ser292Pro) c.616T>C (p.Ser206Pro) | |
| 22 | g.50626259A>T | CA412174995 | ARSA | c.874T>A (p.Ser292Thr) c.616T>A (p.Ser206Thr) | |
| 22 | g.50626260C>A | CA412175013 | ARSA | c.873G>T (p.Met291Ile) c.615G>T (p.Met205Ile) | |
| 22 | g.50626260C>G | CA412175000 | ARSA | c.873G>C (p.Met291Ile) c.615G>C (p.Met205Ile) | |
| 22 | g.50626260C>T | CA412175005 | ARSA | c.873G>A (p.Met291Ile) c.615G>A (p.Met205Ile) | |
| 22 | g.50626263_50626268del | CA2697552824 | ARSA | c.868_873del (p.Arg290_Met291del) c.610_615del (p.Arg204_Met205del) | |
| 22 | g.50626261A= | CA2410958950 | ARSA | c.872T= (p.Met291=) c.614T= (p.Met205=) | |
| 22 | g.50626261A>C | CA412175014 | ARSA | c.872T>G (p.Met291Arg) c.614T>G (p.Met205Arg) | |
| 22 | g.50626261A>G | CA412175015 | ARSA | c.872T>C (p.Met291Thr) c.614T>C (p.Met205Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626261A>T | CA412175018 | ARSA | c.872T>A (p.Met291Lys) c.614T>A (p.Met205Lys) | |
| 22 | g.50626262T>A | CA412175024 | ARSA | c.871A>T (p.Met291Leu) c.613A>T (p.Met205Leu) | |
| 22 | g.50626262T>C | CA412175029 | ARSA | c.871A>G (p.Met291Val) c.613A>G (p.Met205Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626262T>G | CA412175032 | ARSA | c.871A>C (p.Met291Leu) c.613A>C (p.Met205Leu) |