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.50627278T>A | CA412180916 | ARSA | c.353A>T (p.Tyr118Phe) c.95A>T (p.Tyr32Phe) n.744A>T | |
22 | g.50627278T>C | CA412180922 | ARSA | c.353A>G (p.Tyr118Cys) c.95A>G (p.Tyr32Cys) n.744A>G | |
22 | g.50627278T>G | CA412180926 | ARSA | c.353A>C (p.Tyr118Ser) c.95A>C (p.Tyr32Ser) n.744A>C | |
22 | g.50627279A= | CA2410959524 | ARSA | c.352T= (p.Tyr118=) c.94T= (p.Tyr32=) n.743T= | |
22 | g.50627279A>C | CA412180930 | ARSA | c.352T>G (p.Tyr118Asp) c.94T>G (p.Tyr32Asp) n.743T>G | |
22 | g.50627279A>G | CA412180933 | ARSA | c.352T>C (p.Tyr118His) c.94T>C (p.Tyr32His) n.743T>C | dbSNP |
22 | g.50627279A>T | CA412180938 | ARSA | c.352T>A (p.Tyr118Asn) c.94T>A (p.Tyr32Asn) n.743T>A | |
22 | g.50627280G>A | CA515391512 | ARSA | c.351C>T (p.Gly117=) c.93C>T (p.Gly31=) n.742C>T | |
22 | g.50627280G>C | CA515391513 | ARSA | c.351C>G (p.Gly117=) c.93C>G (p.Gly31=) n.742C>G | |
22 | g.50627280G>T | CA515391514 | ARSA | c.351C>A (p.Gly117=) c.93C>A (p.Gly31=) n.742C>A | gnomAD v4 |
22 | g.50627281C>A | CA412180944 | ARSA | c.350G>T (p.Gly117Val) c.92G>T (p.Gly31Val) n.741G>T | gnomAD v4 |
22 | g.50627281C= | CA2410959525 | ARSA | c.350G= (p.Gly117=) c.92G= (p.Gly31=) n.741G= | |
22 | g.50627281C>G | CA412180945 | ARSA | c.350G>C (p.Gly117Ala) c.92G>C (p.Gly31Ala) n.741G>C | |
22 | g.50627281C>T | CA412180941 | ARSA | c.350G>A (p.Gly117Asp) c.92G>A (p.Gly31Asp) n.741G>A | ClinVar dbSNP gnomAD v2 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 |