| 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 | |
| 22 | g.50627338dup | CA658824689 | ARSA | c.295dup (p.Arg99ProfsTer?) c.37dup (p.Arg13ProfsTer?) n.686dup | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627338G>A | CA115960 | ARSA | c.293C>T (p.Ser98Phe) c.35C>T (p.Ser12Phe) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627338G>C | CA412181539 | ARSA | c.293C>G (p.Ser98Cys) c.35C>G (p.Ser12Cys) n.684C>G | |
| 22 | g.50627338G= | CA2410959561 | ARSA | c.293C= (p.Ser98=) c.35C= (p.Ser12=) n.684C= | |
| 22 | g.50627338G>T | CA412181529 | ARSA | c.293C>A (p.Ser98Tyr) c.35C>A (p.Ser12Tyr) n.684C>A | gnomAD v4 |
| 22 | g.50627338_50627339delinsAG | CA115971 | ARSA | c.292_293delinsCT (p.Ser98Leu) c.34_35delinsCT (p.Ser12Leu) n.683_684delinsCT | ClinVar dbSNP |
| 22 | g.50627338_50627339delinsGA | CA2410959562 | ARSA | c.292_293delinsTC (p.Ser98=) c.34_35delinsTC (p.Ser12=) n.683_684delinsTC | |
| 22 | g.50627339A>C | CA412181547 | ARSA | c.292T>G (p.Ser98Ala) c.34T>G (p.Ser12Ala) n.683T>G | |
| 22 | g.50627339A>G | CA412181546 | ARSA | c.292T>C (p.Ser98Pro) c.34T>C (p.Ser12Pro) n.683T>C | |
| 22 | g.50627339A>T | CA412181548 | ARSA | c.292T>A (p.Ser98Thr) c.34T>A (p.Ser12Thr) n.683T>A | |
| 22 | g.50627339delinsGG | CA2695231031 | ARSA | c.292delinsCC (p.Ser98ProfsTer?) c.34delinsCC (p.Ser12ProfsTer?) n.683delinsCC | |
| 22 | g.50627339dup | CA2657593962 | ARSA | c.292dup (p.Ser98PhefsTer?) c.34dup (p.Ser12PhefsTer?) n.683dup | gnomAD v4 |
| 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 |