Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627298_50627364del | CA2697552823 | ARSA | c.269_335del (p.Tyr90SerfsTer?) c.11_77del (p.Tyr4SerfsTer?) n.660_726del | ClinVar |
22 | g.50627340G>A | CA515391575 | ARSA | c.291C>T (p.Ser97=) c.33C>T (p.Ser11=) n.682C>T | ClinVar dbSNP |
22 | g.50627340G>C | CA412181550 | ARSA | c.291C>G (p.Ser97Arg) c.33C>G (p.Ser11Arg) n.682C>G | |
22 | g.50627340G= | CA2410959563 | ARSA | c.291C= (p.Ser97=) c.33C= (p.Ser11=) n.682C= | |
22 | g.50627340G>T | CA412181554 | ARSA | c.291C>A (p.Ser97Arg) c.33C>A (p.Ser11Arg) n.682C>A | dbSNP gnomAD v4 |
22 | g.50627341C>A | CA412181558 | ARSA | c.290G>T (p.Ser97Ile) c.32G>T (p.Ser11Ile) n.681G>T | |
22 | g.50627341C= | CA2410959564 | ARSA | c.290G= (p.Ser97=) c.32G= (p.Ser11=) n.681G= | |
22 | g.50627341C>G | CA412181560 | ARSA | c.290G>C (p.Ser97Thr) c.32G>C (p.Ser11Thr) n.681G>C | |
22 | g.50627341C>T | CA219012 | ARSA | c.290G>A (p.Ser97Asn) c.32G>A (p.Ser11Asn) n.681G>A | ClinVar dbSNP gnomAD v4 |
22 | g.50627342T>A | CA412181570 | ARSA | c.289A>T (p.Ser97Cys) c.31A>T (p.Ser11Cys) n.680A>T | |
22 | g.50627342T>C | CA412181567 | ARSA | c.289A>G (p.Ser97Gly) c.31A>G (p.Ser11Gly) n.680A>G | |
22 | g.50627342T>G | CA412181565 | ARSA | c.289A>C (p.Ser97Arg) c.31A>C (p.Ser11Arg) n.680A>C | |
22 | g.50627343G>A | CA515391576 | ARSA | c.288C>T (p.Pro96=) c.30C>T (p.Pro10=) n.679C>T | |
22 | g.50627343G>C | CA515391577 | ARSA | c.288C>G (p.Pro96=) c.30C>G (p.Pro10=) n.679C>G | |
22 | g.50627343G>T | CA515391578 | ARSA | c.288C>A (p.Pro96=) c.30C>A (p.Pro10=) n.679C>A | gnomAD v4 |
22 | g.50627344G>A | CA412181575 | ARSA | c.287C>T (p.Pro96Leu) c.29C>T (p.Pro10Leu) n.678C>T | |
22 | g.50627344G>C | CA412181578 | ARSA | c.287C>G (p.Pro96Arg) c.29C>G (p.Pro10Arg) n.678C>G | |
22 | g.50627344G>T | CA412181583 | ARSA | c.287C>A (p.Pro96His) c.29C>A (p.Pro10His) n.678C>A | |
22 | g.50627345G>A | CA412181590 | ARSA | c.286C>T (p.Pro96Ser) c.28C>T (p.Pro10Ser) n.677C>T | gnomAD v4 |
22 | g.50627345G>C | CA219010 | ARSA | c.286C>G (p.Pro96Ala) c.28C>G (p.Pro10Ala) n.677C>G | ClinVar dbSNP |
22 | g.50627345G= | CA2410959565 | ARSA | c.286C= (p.Pro96=) c.28C= (p.Pro10=) n.677C= | |
22 | g.50627345G>T | CA412181595 | ARSA | c.286C>A (p.Pro96Thr) c.28C>A (p.Pro10Thr) n.677C>A | gnomAD v4 |
22 | g.50627346C>A | CA515391579 | ARSA | c.285G>T (p.Val95=) c.27G>T (p.Val9=) n.676G>T | gnomAD v4 |
22 | g.50627346C>G | CA515391580 | ARSA | c.285G>C (p.Val95=) c.27G>C (p.Val9=) n.676G>C | gnomAD v4 |
22 | g.50627346C>T | CA515391581 | ARSA | c.285G>A (p.Val95=) c.27G>A (p.Val9=) n.676G>A | |
22 | g.50627347A>C | CA412181597 | ARSA | c.284T>G (p.Val95Gly) c.26T>G (p.Val9Gly) n.675T>G | |
22 | g.50627347A>G | CA412181600 | ARSA | c.284T>C (p.Val95Ala) c.26T>C (p.Val9Ala) n.675T>C | gnomAD v4 |
22 | g.50627347A>T | CA412181599 | ARSA | c.284T>A (p.Val95Glu) c.26T>A (p.Val9Glu) n.675T>A | |
22 | g.50627348C>A | CA412181601 | ARSA | c.283G>T (p.Val95Leu) c.25G>T (p.Val9Leu) n.674G>T | |
22 | g.50627348C= | CA2410959566 | ARSA | c.283G= (p.Val95=) c.25G= (p.Val9=) n.674G= | |
22 | g.50627348C>G | CA412181602 | ARSA | c.283G>C (p.Val95Leu) c.25G>C (p.Val9Leu) n.674G>C | |
22 | g.50627348C>T | CA10325065 | ARSA | c.283G>A (p.Val95Met) c.25G>A (p.Val9Met) n.674G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627349C>A | CA515391582 | ARSA | c.282G>T (p.Leu94=) c.24G>T (p.Leu8=) n.673G>T | gnomAD v4 |
22 | g.50627349C>G | CA515391583 | ARSA | c.282G>C (p.Leu94=) c.24G>C (p.Leu8=) n.673G>C | |
22 | g.50627349C>T | CA515391584 | ARSA | c.282G>A (p.Leu94=) c.24G>A (p.Leu8=) n.673G>A | |
22 | g.50627350A>C | CA412181609 | ARSA | c.281T>G (p.Leu94Arg) c.23T>G (p.Leu8Arg) n.672T>G | |
22 | g.50627350A>G | CA412181613 | ARSA | c.281T>C (p.Leu94Pro) c.23T>C (p.Leu8Pro) n.672T>C | gnomAD v4 |
22 | g.50627350A>T | CA412181616 | ARSA | c.281T>A (p.Leu94Gln) c.23T>A (p.Leu8Gln) n.672T>A | |
22 | g.50627351G>A | CA10325067 | ARSA | c.280C>T (p.Leu94=) c.22C>T (p.Leu8=) n.671C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627351G>C | CA10325066 | ARSA | c.280C>G (p.Leu94Val) c.22C>G (p.Leu8Val) n.671C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627351G= | CA2410959567 | ARSA | c.280C= (p.Leu94=) c.22C= (p.Leu8=) n.671C= | |
22 | g.50627351G>T | CA412181624 | ARSA | c.280C>A (p.Leu94Met) c.22C>A (p.Leu8Met) n.671C>A | |
22 | g.50627352G>A | CA10325068 | ARSA | c.279C>T (p.Val93=) c.21C>T (p.Val7=) n.670C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627352G>C | CA515391586 | ARSA | c.279C>G (p.Val93=) c.21C>G (p.Val7=) n.670C>G | |
22 | g.50627352G= | CA2410959568 | ARSA | c.279C= (p.Val93=) c.21C= (p.Val7=) n.670C= | |
22 | g.50627352G>T | CA515391585 | ARSA | c.279C>A (p.Val93=) c.21C>A (p.Val7=) n.670C>A | gnomAD v4 |
22 | g.50627353A>C | CA412181642 | ARSA | c.278T>G (p.Val93Gly) c.20T>G (p.Val7Gly) n.669T>G | ClinVar dbSNP gnomAD v4 |
22 | g.50627353A>G | CA412181635 | ARSA | c.278T>C (p.Val93Ala) c.20T>C (p.Val7Ala) n.669T>C | |
22 | g.50627353A>T | CA412181629 | ARSA | c.278T>A (p.Val93Asp) c.20T>A (p.Val7Asp) n.669T>A | |
22 | g.50627354C>A | CA412181650 | ARSA | c.277G>T (p.Val93Phe) c.19G>T (p.Val7Phe) n.668G>T | gnomAD v4 |