| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626217T>A | CA412174668 | ARSA | c.916A>T (p.Thr306Ser) c.658A>T (p.Thr220Ser) | |
| 22 | g.50626217T>C | CA412174667 | ARSA | c.916A>G (p.Thr306Ala) c.658A>G (p.Thr220Ala) | ClinVar gnomAD v4 |
| 22 | g.50626217T>G | CA412174666 | ARSA | c.916A>C (p.Thr306Pro) c.658A>C (p.Thr220Pro) | |
| 22 | g.50626218T>A | CA515248972 | ARSA | c.915A>T (p.Gly305=) c.657A>T (p.Gly219=) | |
| 22 | g.50626218T>C | CA515248973 | ARSA | c.915A>G (p.Gly305=) c.657A>G (p.Gly219=) | |
| 22 | g.50626218T>G | CA515248974 | ARSA | c.915A>C (p.Gly305=) c.657A>C (p.Gly219=) | |
| 22 | g.50626219C>A | CA412174671 | ARSA | c.914G>T (p.Gly305Val) c.656G>T (p.Gly219Val) | |
| 22 | g.50626219C= | CA2410958922 | ARSA | c.914G= (p.Gly305=) c.656G= (p.Gly219=) | |
| 22 | g.50626219C>G | CA412174672 | ARSA | c.914G>C (p.Gly305Ala) c.656G>C (p.Gly219Ala) | |
| 22 | g.50626219C>T | CA325531345 | ARSA | c.914G>A (p.Gly305Glu) c.656G>A (p.Gly219Glu) | dbSNP gnomAD v4 |
| 22 | g.50626220C>A | CA412174674 | ARSA | c.913G>T (p.Gly305Ter) c.655G>T (p.Gly219Ter) | |
| 22 | g.50626220C>G | CA412174676 | ARSA | c.913G>C (p.Gly305Arg) c.655G>C (p.Gly219Arg) | |
| 22 | g.50626220C>T | CA412174678 | ARSA | c.913G>A (p.Gly305Arg) c.655G>A (p.Gly219Arg) | ClinVar dbSNP COSMIC |
| 22 | g.50626221C>A | CA412174684 | ARSA | c.912G>T (p.Lys304Asn) c.654G>T (p.Lys218Asn) | |
| 22 | g.50626221C= | CA2410958923 | ARSA | c.912G= (p.Lys304=) c.654G= (p.Lys218=) | |
| 22 | g.50626221C>G | CA219072 | ARSA | c.912G>C (p.Lys304Asn) c.654G>C (p.Lys218Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626221C>T | CA515248975 | ARSA | c.912G>A (p.Lys304=) c.654G>A (p.Lys218=) | ClinVar |
| 22 | g.50626222T>A | CA412174687 | ARSA | c.911A>T (p.Lys304Met) c.653A>T (p.Lys218Met) | |
| 22 | g.50626222T>C | CA412174688 | ARSA | c.911A>G (p.Lys304Arg) c.653A>G (p.Lys218Arg) | |
| 22 | g.50626222T>G | CA412174692 | ARSA | c.911A>C (p.Lys304Thr) c.653A>C (p.Lys218Thr) | |
| 22 | g.50626223T>A | CA412174694 | ARSA | c.910A>T (p.Lys304Ter) c.652A>T (p.Lys218Ter) | |
| 22 | g.50626223T>C | CA412174700 | ARSA | c.910A>G (p.Lys304Glu) c.652A>G (p.Lys218Glu) | |
| 22 | g.50626223T>G | CA412174704 | ARSA | c.910A>C (p.Lys304Gln) c.652A>C (p.Lys218Gln) | |
| 22 | g.50626224T>A | CA515248976 | ARSA | c.909A>T (p.Gly303=) c.651A>T (p.Gly217=) | |
| 22 | g.50626224T>C | CA515248977 | ARSA | c.909A>G (p.Gly303=) c.651A>G (p.Gly217=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626224T>G | CA515248978 | ARSA | c.909A>C (p.Gly303=) c.651A>C (p.Gly217=) | |
| 22 | g.50626225C>A | CA412174706 | ARSA | c.908G>T (p.Gly303Val) c.650G>T (p.Gly217Val) | ClinVar |
| 22 | g.50626225C= | CA2410958924 | ARSA | c.908G= (p.Gly303=) c.650G= (p.Gly217=) | |
| 22 | g.50626225C>G | CA412174707 | ARSA | c.908G>C (p.Gly303Ala) c.650G>C (p.Gly217Ala) | gnomAD v4 |
| 22 | g.50626225C>T | CA412174705 | ARSA | c.908G>A (p.Gly303Glu) c.650G>A (p.Gly217Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626226C>A | CA412174711 | ARSA | c.907G>T (p.Gly303Ter) c.649G>T (p.Gly217Ter) | |
| 22 | g.50626226C= | CA2410958925 | ARSA | c.907G= (p.Gly303=) c.649G= (p.Gly217=) | |
| 22 | g.50626226C>G | CA412174713 | ARSA | c.907G>C (p.Gly303Arg) c.649G>C (p.Gly217Arg) | |
| 22 | g.50626226C>T | CA412174715 | ARSA | c.907G>A (p.Gly303Arg) c.649G>A (p.Gly217Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626226_50626302del | CA2657592490 | ARSA | c.855-24_907del c.597-24_649del | ClinVar gnomAD v4 |
| 22 | g.50626227A>C | CA412174720 | ARSA | c.906T>G (p.Cys302Trp) c.648T>G (p.Cys216Trp) | |
| 22 | g.50626227A>G | CA515248979 | ARSA | c.906T>C (p.Cys302=) c.648T>C (p.Cys216=) | |
| 22 | g.50626227A>T | CA412174725 | ARSA | c.906T>A (p.Cys302Ter) c.648T>A (p.Cys216Ter) | |
| 22 | g.50626228C>A | CA116011 | ARSA | c.905G>T (p.Cys302Phe) c.647G>T (p.Cys216Phe) | ClinVar dbSNP |
| 22 | g.50626228C= | CA2410958926 | ARSA | c.905G= (p.Cys302=) c.647G= (p.Cys216=) | |
| 22 | g.50626228C>G | CA412174730 | ARSA | c.905G>C (p.Cys302Ser) c.647G>C (p.Cys216Ser) | |
| 22 | g.50626228C>T | CA412174737 | ARSA | c.905G>A (p.Cys302Tyr) c.647G>A (p.Cys216Tyr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626229A= | CA2410958927 | ARSA | c.904T= (p.Cys302=) c.646T= (p.Cys216=) | |
| 22 | g.50626229A>C | CA412174741 | ARSA | c.904T>G (p.Cys302Gly) c.646T>G (p.Cys216Gly) | dbSNP |
| 22 | g.50626229A>G | CA412174744 | ARSA | c.904T>C (p.Cys302Arg) c.646T>C (p.Cys216Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626229A>T | CA412174747 | ARSA | c.904T>A (p.Cys302Ser) c.646T>A (p.Cys216Ser) | |
| 22 | g.50626230C>A | CA515248980 | ARSA | c.903G>T (p.Arg301=) c.645G>T (p.Arg215=) | |
| 22 | g.50626230C= | CA2410958928 | ARSA | c.903G= (p.Arg301=) c.645G= (p.Arg215=) | |
| 22 | g.50626230C>G | CA515248981 | ARSA | c.903G>C (p.Arg301=) c.645G>C (p.Arg215=) | |
| 22 | g.50626230C>T | CA10324879 | ARSA | c.903G>A (p.Arg301=) c.645G>A (p.Arg215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |