| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625160T>A | CA515390773 | ARSA | c.1515A>T (p.Pro505=) c.1257A>T (p.Pro419=) c.180+203A>T c.*248A>T (n.*248A>T) c.1629A>T (p.Pro543=) | |
| 22 | g.50625160T>C | CA515390774 | ARSA | c.1515A>G (p.Pro505=) c.1257A>G (p.Pro419=) c.180+203A>G c.*248A>G (n.*248A>G) c.1629A>G (p.Pro543=) | gnomAD v4 |
| 22 | g.50625160T>G | CA515390775 | ARSA | c.1515A>C (p.Pro505=) c.1257A>C (p.Pro419=) c.180+203A>C c.*248A>C (n.*248A>C) c.1629A>C (p.Pro543=) | |
| 22 | g.50625161G>A | CA412166653 | ARSA | c.1514C>T (p.Pro505Leu) c.1256C>T (p.Pro419Leu) c.180+202C>T c.*247C>T (n.*247C>T) c.1628C>T (p.Pro543Leu) | gnomAD v4 |
| 22 | g.50625161G>C | CA412166659 | ARSA | c.1514C>G (p.Pro505Arg) c.1256C>G (p.Pro419Arg) c.180+202C>G c.*247C>G (n.*247C>G) c.1628C>G (p.Pro543Arg) | |
| 22 | g.50625161G>T | CA412166656 | ARSA | c.1514C>A (p.Pro505Gln) c.1256C>A (p.Pro419Gln) c.180+202C>A c.*247C>A (n.*247C>A) c.1628C>A (p.Pro543Gln) | gnomAD v4 |
| 22 | g.50625162G>A | CA412166664 | ARSA | c.1513C>T (p.Pro505Ser) c.1255C>T (p.Pro419Ser) c.180+201C>T c.*246C>T (n.*246C>T) c.1627C>T (p.Pro543Ser) | gnomAD v4 |
| 22 | g.50625162G>C | CA412166667 | ARSA | c.1513C>G (p.Pro505Ala) c.1255C>G (p.Pro419Ala) c.180+201C>G c.*246C>G (n.*246C>G) c.1627C>G (p.Pro543Ala) | |
| 22 | g.50625162G>T | CA412166669 | ARSA | c.1513C>A (p.Pro505Thr) c.1255C>A (p.Pro419Thr) c.180+201C>A c.*246C>A (n.*246C>A) c.1627C>A (p.Pro543Thr) | gnomAD v4 |
| 22 | g.50625163G>A | CA515390781 | ARSA | c.1512C>T (p.Cys504=) c.1254C>T (p.Cys418=) c.180+200C>T c.*245C>T (n.*245C>T) c.1626C>T (p.Cys542=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.50625163G>C | CA412166674 | ARSA | c.1512C>G (p.Cys504Trp) c.1254C>G (p.Cys418Trp) c.180+200C>G c.*245C>G (n.*245C>G) c.1626C>G (p.Cys542Trp) | |
| 22 | g.50625163G>T | CA412166677 | ARSA | c.1512C>A (p.Cys504Ter) c.1254C>A (p.Cys418Ter) c.180+200C>A c.*245C>A (n.*245C>A) c.1626C>A (p.Cys542Ter) | gnomAD v4 |
| 22 | g.50625163_50625164delinsGC | CA2410958343 | ARSA | c.1511_1512delinsGC (p.Cys504=) c.1253_1254delinsGC (p.Cys418=) c.180+199_180+200delinsGC c.*244_*245delinsGC (n.*244_*245delinsGC) c.1625_1626delinsGC (p.Cys542=) | |
| 22 | g.50625164del | CA640358552 | ARSA | c.1511del (p.Cys504SerfsTer16) c.1253del (p.Cys418SerfsTer16) c.180+199del c.*244del (n.*244del) c.1625del (p.Cys542SerfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625164C>A | CA412166684 | ARSA | c.1511G>T (p.Cys504Phe) c.1253G>T (p.Cys418Phe) c.180+199G>T c.*244G>T (n.*244G>T) c.1625G>T (p.Cys542Phe) | gnomAD v4 |
| 22 | g.50625164C>G | CA412166686 | ARSA | c.1511G>C (p.Cys504Ser) c.1253G>C (p.Cys418Ser) c.180+199G>C c.*244G>C (n.*244G>C) c.1625G>C (p.Cys542Ser) | |
| 22 | g.50625164C>T | CA412166689 | ARSA | c.1511G>A (p.Cys504Tyr) c.1253G>A (p.Cys418Tyr) c.180+199G>A c.*244G>A (n.*244G>A) c.1625G>A (p.Cys542Tyr) | gnomAD v4 |
| 22 | g.50625165A>C | CA412166691 | ARSA | c.1510T>G (p.Cys504Gly) c.1252T>G (p.Cys418Gly) c.180+198T>G c.*243T>G (n.*243T>G) c.1624T>G (p.Cys542Gly) | |
| 22 | g.50625165A>G | CA412166693 | ARSA | c.1510T>C (p.Cys504Arg) c.1252T>C (p.Cys418Arg) c.180+198T>C c.*243T>C (n.*243T>C) c.1624T>C (p.Cys542Arg) | |
| 22 | g.50625165A>T | CA412166697 | ARSA | c.1510T>A (p.Cys504Ser) c.1252T>A (p.Cys418Ser) c.180+198T>A c.*243T>A (n.*243T>A) c.1624T>A (p.Cys542Ser) | |
| 22 | g.50625166A>C | CA412166701 | ARSA | c.1509T>G (p.His503Gln) c.1251T>G (p.His417Gln) c.180+197T>G c.*242T>G (n.*242T>G) c.1623T>G (p.His541Gln) | gnomAD v4 |
| 22 | g.50625166A>G | CA515390788 | ARSA | c.1509T>C (p.His503=) c.1251T>C (p.His417=) c.180+197T>C c.*242T>C (n.*242T>C) c.1623T>C (p.His541=) | |
| 22 | g.50625166A>T | CA412166703 | ARSA | c.1509T>A (p.His503Gln) c.1251T>A (p.His417Gln) c.180+197T>A c.*242T>A (n.*242T>A) c.1623T>A (p.His541Gln) | |
| 22 | g.50625167T>A | CA412166718 | ARSA | c.1508A>T (p.His503Leu) c.1250A>T (p.His417Leu) c.180+196A>T c.*241A>T (n.*241A>T) c.1622A>T (p.His541Leu) | gnomAD v4 |
| 22 | g.50625167T>C | CA412166712 | ARSA | c.1508A>G (p.His503Arg) c.1250A>G (p.His417Arg) c.180+196A>G c.*241A>G (n.*241A>G) c.1622A>G (p.His541Arg) | gnomAD v4 |
| 22 | g.50625167T>G | CA412166711 | ARSA | c.1508A>C (p.His503Pro) c.1250A>C (p.His417Pro) c.180+196A>C c.*241A>C (n.*241A>C) c.1622A>C (p.His541Pro) | |
| 22 | g.50625168G>A | CA10324716 | ARSA | c.1507C>T (p.His503Tyr) c.1249C>T (p.His417Tyr) c.180+195C>T c.*240C>T (n.*240C>T) c.1621C>T (p.His541Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625168G>C | CA412166728 | ARSA | c.1507C>G (p.His503Asp) c.1249C>G (p.His417Asp) c.180+195C>G c.*240C>G (n.*240C>G) c.1621C>G (p.His541Asp) | dbSNP |
| 22 | g.50625168G= | CA2410958344 | ARSA | c.1507C= (p.His503=) c.1249C= (p.His417=) c.180+195C= c.*240C= (n.*240C=) c.1621C= (p.His541=) | |
| 22 | g.50625168G>T | CA412166729 | ARSA | c.1507C>A (p.His503Asn) c.1249C>A (p.His417Asn) c.180+195C>A c.*240C>A (n.*240C>A) c.1621C>A (p.His541Asn) | gnomAD v4 |
| 22 | g.50625169G>A | CA515390793 | ARSA | c.1506C>T (p.Cys502=) c.1248C>T (p.Cys416=) c.180+194C>T c.*239C>T (n.*239C>T) c.1620C>T (p.Cys540=) | gnomAD v4 COSMIC |
| 22 | g.50625169G>C | CA412166730 | ARSA | c.1506C>G (p.Cys502Trp) c.1248C>G (p.Cys416Trp) c.180+194C>G c.*239C>G (n.*239C>G) c.1620C>G (p.Cys540Trp) | gnomAD v4 |
| 22 | g.50625169G>T | CA412166732 | ARSA | c.1506C>A (p.Cys502Ter) c.1248C>A (p.Cys416Ter) c.180+194C>A c.*239C>A (n.*239C>A) c.1620C>A (p.Cys540Ter) | gnomAD v4 |
| 22 | g.50625170C>A | CA412166735 | ARSA | c.1505G>T (p.Cys502Phe) c.1247G>T (p.Cys416Phe) c.180+193G>T c.*238G>T (n.*238G>T) c.1619G>T (p.Cys540Phe) | gnomAD v4 COSMIC |
| 22 | g.50625170C>G | CA412166744 | ARSA | c.1505G>C (p.Cys502Ser) c.1247G>C (p.Cys416Ser) c.180+193G>C c.*238G>C (n.*238G>C) c.1619G>C (p.Cys540Ser) | |
| 22 | g.50625170C>T | CA412166749 | ARSA | c.1505G>A (p.Cys502Tyr) c.1247G>A (p.Cys416Tyr) c.180+193G>A c.*238G>A (n.*238G>A) c.1619G>A (p.Cys540Tyr) | gnomAD v4 |
| 22 | g.50625171A>C | CA412166753 | ARSA | c.1504T>G (p.Cys502Gly) c.1246T>G (p.Cys416Gly) c.180+192T>G c.*237T>G (n.*237T>G) c.1618T>G (p.Cys540Gly) | |
| 22 | g.50625171A>G | CA412166754 | ARSA | c.1504T>C (p.Cys502Arg) c.1246T>C (p.Cys416Arg) c.180+192T>C c.*237T>C (n.*237T>C) c.1618T>C (p.Cys540Arg) | |
| 22 | g.50625171A>T | CA412166755 | ARSA | c.1504T>A (p.Cys502Ser) c.1246T>A (p.Cys416Ser) c.180+192T>A c.*237T>A (n.*237T>A) c.1618T>A (p.Cys540Ser) | gnomAD v4 |
| 22 | g.50625172G>A | CA515390803 | ARSA | c.1503C>T (p.Cys501=) c.1245C>T (p.Cys415=) c.180+191C>T c.*236C>T (n.*236C>T) c.1617C>T (p.Cys539=) | gnomAD v4 |
| 22 | g.50625172G>C | CA412166757 | ARSA | c.1503C>G (p.Cys501Trp) c.1245C>G (p.Cys415Trp) c.180+191C>G c.*236C>G (n.*236C>G) c.1617C>G (p.Cys539Trp) | |
| 22 | g.50625172G>T | CA412166762 | ARSA | c.1503C>A (p.Cys501Ter) c.1245C>A (p.Cys415Ter) c.180+191C>A c.*236C>A (n.*236C>A) c.1617C>A (p.Cys539Ter) | gnomAD v4 |
| 22 | g.50625173C>A | CA412166770 | ARSA | c.1502G>T (p.Cys501Phe) c.1244G>T (p.Cys415Phe) c.180+190G>T c.*235G>T (n.*235G>T) c.1616G>T (p.Cys539Phe) | gnomAD v4 |
| 22 | g.50625173C>G | CA412166774 | ARSA | c.1502G>C (p.Cys501Ser) c.1244G>C (p.Cys415Ser) c.180+190G>C c.*235G>C (n.*235G>C) c.1616G>C (p.Cys539Ser) | |
| 22 | g.50625173C>T | CA412166766 | ARSA | c.1502G>A (p.Cys501Tyr) c.1244G>A (p.Cys415Tyr) c.180+190G>A c.*235G>A (n.*235G>A) c.1616G>A (p.Cys539Tyr) | gnomAD v4 |
| 22 | g.50625174A>C | CA412166778 | ARSA | c.1501T>G (p.Cys501Gly) c.1243T>G (p.Cys415Gly) c.180+189T>G c.*234T>G (n.*234T>G) c.1615T>G (p.Cys539Gly) | |
| 22 | g.50625174A>G | CA412166782 | ARSA | c.1501T>C (p.Cys501Arg) c.1243T>C (p.Cys415Arg) c.180+189T>C c.*234T>C (n.*234T>C) c.1615T>C (p.Cys539Arg) | |
| 22 | g.50625174A>T | CA412166797 | ARSA | c.1501T>A (p.Cys501Ser) c.1243T>A (p.Cys415Ser) c.180+189T>A c.*234T>A (n.*234T>A) c.1615T>A (p.Cys539Ser) | |
| 22 | g.50625175A= | CA2410958345 | ARSA | c.1500T= (p.Ala500=) c.1242T= (p.Ala414=) c.180+188T= c.*233T= (n.*233T=) c.1614T= (p.Ala538=) | |
| 22 | g.50625175A>C | CA515390818 | ARSA | c.1500T>G (p.Ala500=) c.1242T>G (p.Ala414=) c.180+188T>G c.*233T>G (n.*233T>G) c.1614T>G (p.Ala538=) |