Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627275_50627284delinsAGGTAGCCTC | CA2410959522 | ARSA | c.347_356delinsGAGGCTACCT (p.Arg116=) c.89_98delinsGAGGCTACCT (p.Arg30=) n.738_747delinsGAGGCTACCT | |
22 | g.50627278_50627286del | CA754070388 | ARSA | c.347_355del (p.Arg116_Tyr118del) c.89_97del (p.Arg30_Tyr32del) n.738_746del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627281_50627282dup | CA2739268050 | ARSA | c.349_350dup (p.Tyr118AlafsTer?) c.91_92dup (p.Tyr32AlafsTer?) n.740_741dup | ClinVar |
22 | g.50627282C>A | CA412180946 | ARSA | c.349G>T (p.Gly117Cys) c.91G>T (p.Gly31Cys) n.740G>T | |
22 | g.50627282C>G | CA412180947 | ARSA | c.349G>C (p.Gly117Arg) c.91G>C (p.Gly31Arg) n.740G>C | ClinVar gnomAD v4 |
22 | g.50627282C>T | CA412180950 | ARSA | c.349G>A (p.Gly117Ser) c.91G>A (p.Gly31Ser) n.740G>A | ClinVar dbSNP |
22 | g.50627283T>A | CA515391517 | ARSA | c.348A>T (p.Arg116=) c.90A>T (p.Arg30=) n.739A>T | |
22 | g.50627283T>C | CA515391515 | ARSA | c.348A>G (p.Arg116=) c.90A>G (p.Arg30=) n.739A>G | |
22 | g.50627283T>G | CA515391516 | ARSA | c.348A>C (p.Arg116=) c.90A>C (p.Arg30=) n.739A>C | |
22 | g.50627284C>A | CA412180953 | ARSA | c.347G>T (p.Arg116Leu) c.89G>T (p.Arg30Leu) n.738G>T | |
22 | g.50627284C= | CA2410959526 | ARSA | c.347G= (p.Arg116=) c.89G= (p.Arg30=) n.738G= | |
22 | g.50627284C>G | CA412180958 | ARSA | c.347G>C (p.Arg116Pro) c.89G>C (p.Arg30Pro) n.738G>C | gnomAD v4 |
22 | g.50627284C>T | CA10325046 | ARSA | c.347G>A (p.Arg116Gln) c.89G>A (p.Arg30Gln) n.738G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627285G>A | CA10603751 | ARSA | c.346C>T (p.Arg116Ter) c.88C>T (p.Arg30Ter) n.737C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627285G>C | CA10325047 | ARSA | c.346C>G (p.Arg116Gly) c.88C>G (p.Arg30Gly) n.737C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627285G= | CA2410959527 | ARSA | c.346C= (p.Arg116=) c.88C= (p.Arg30=) n.737C= | |
22 | g.50627285G>T | CA515391521 | ARSA | c.346C>A (p.Arg116=) c.88C>A (p.Arg30=) n.737C>A | gnomAD v4 |
22 | g.50627286G>A | CA515391522 | ARSA | c.345C>T (p.Ala115=) c.87C>T (p.Ala29=) n.736C>T | |
22 | g.50627286G>C | CA325531584 | ARSA | c.345C>G (p.Ala115=) c.87C>G (p.Ala29=) n.736C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627286G= | CA2410959528 | ARSA | c.345C= (p.Ala115=) c.87C= (p.Ala29=) n.736C= | |
22 | g.50627286G>T | CA515391523 | ARSA | c.345C>A (p.Ala115=) c.87C>A (p.Ala29=) n.736C>A | gnomAD v4 |
22 | g.50627287G>A | CA412180975 | ARSA | c.344C>T (p.Ala115Val) c.86C>T (p.Ala29Val) n.735C>T | gnomAD v4 |
22 | g.50627287G>C | CA412180979 | ARSA | c.344C>G (p.Ala115Gly) c.86C>G (p.Ala29Gly) n.735C>G | dbSNP |
22 | g.50627287G= | CA2410959529 | ARSA | c.344C= (p.Ala115=) c.86C= (p.Ala29=) n.735C= | |
22 | g.50627287G>T | CA412180997 | ARSA | c.344C>A (p.Ala115Asp) c.86C>A (p.Ala29Asp) n.735C>A | |
22 | g.50627288C>A | CA412181006 | ARSA | c.343G>T (p.Ala115Ser) c.85G>T (p.Ala29Ser) n.734G>T | |
22 | g.50627288C= | CA2410959530 | ARSA | c.343G= (p.Ala115=) c.85G= (p.Ala29=) n.734G= | |
22 | g.50627288C>G | CA412181009 | ARSA | c.343G>C (p.Ala115Pro) c.85G>C (p.Ala29Pro) n.734G>C | gnomAD v4 |
22 | g.50627288C>T | CA412181012 | ARSA | c.343G>A (p.Ala115Thr) c.85G>A (p.Ala29Thr) n.734G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627289A= | CA2410959531 | ARSA | c.342T= (p.Ala114=) c.84T= (p.Ala28=) n.733T= | |
22 | g.50627289A>C | CA515391527 | ARSA | c.342T>G (p.Ala114=) c.84T>G (p.Ala28=) n.733T>G | |
22 | g.50627289A>G | CA10325048 | ARSA | c.342T>C (p.Ala114=) c.84T>C (p.Ala28=) n.733T>C | dbSNP ExAC gnomAD v2 |
22 | g.50627289A>T | CA515391529 | ARSA | c.342T>A (p.Ala114=) c.84T>A (p.Ala28=) n.733T>A | |
22 | g.50627290G>A | CA412181018 | ARSA | c.341C>T (p.Ala114Val) c.83C>T (p.Ala28Val) n.732C>T | gnomAD v4 |
22 | g.50627290G>C | CA412181020 | ARSA | c.341C>G (p.Ala114Gly) c.83C>G (p.Ala28Gly) n.732C>G | |
22 | g.50627290G>T | CA412181019 | ARSA | c.341C>A (p.Ala114Asp) c.83C>A (p.Ala28Asp) n.732C>A | gnomAD v4 |
22 | g.50627291C>A | CA412181023 | ARSA | c.340G>T (p.Ala114Ser) c.82G>T (p.Ala28Ser) n.731G>T | |
22 | g.50627291C>G | CA412181027 | ARSA | c.340G>C (p.Ala114Pro) c.82G>C (p.Ala28Pro) n.731G>C | |
22 | g.50627291C>T | CA412181037 | ARSA | c.340G>A (p.Ala114Thr) c.82G>A (p.Ala28Thr) n.731G>A | |
22 | g.50627292C>A | CA10325049 | ARSA | c.339G>T (p.Leu113=) c.81G>T (p.Leu27=) n.730G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627292C= | CA2410959532 | ARSA | c.339G= (p.Leu113=) c.81G= (p.Leu27=) n.730G= | |
22 | g.50627292C>G | CA515391531 | ARSA | c.339G>C (p.Leu113=) c.81G>C (p.Leu27=) n.730G>C | |
22 | g.50627292C>T | CA515391532 | ARSA | c.339G>A (p.Leu113=) c.81G>A (p.Leu27=) n.730G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627293A= | CA2410959533 | ARSA | c.338T= (p.Leu113=) c.80T= (p.Leu27=) n.729T= | |
22 | g.50627293A>C | CA412181043 | ARSA | c.338T>G (p.Leu113Arg) c.80T>G (p.Leu27Arg) n.729T>G | |
22 | g.50627293A>G | CA10325050 | ARSA | c.338T>C (p.Leu113Pro) c.80T>C (p.Leu27Pro) n.729T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627293A>T | CA412181049 | ARSA | c.338T>A (p.Leu113Gln) c.80T>A (p.Leu27Gln) n.729T>A | |
22 | g.50627294G>A | CA515391534 | ARSA | c.337C>T (p.Leu113=) c.79C>T (p.Leu27=) n.728C>T | ClinVar gnomAD v4 COSMIC |
22 | g.50627294G>C | CA412181074 | ARSA | c.337C>G (p.Leu113Val) c.79C>G (p.Leu27Val) n.728C>G | |
22 | g.50627294G>T | CA412181078 | ARSA | c.337C>A (p.Leu113Met) c.79C>A (p.Leu27Met) n.728C>A |