| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138706703T>A | CA369373996 | ATP6V0A4 | c.2444A>T (p.Asn815Ile) c.*9A>T (n.*9A>T) c.1670A>T (p.Asn557Ile) c.1219A>T (n.1219A>T) | |
| 7 | g.138706703T>C | CA369374000 | ATP6V0A4 | c.2444A>G (p.Asn815Ser) c.*9A>G (n.*9A>G) c.1670A>G (p.Asn557Ser) c.1219A>G (n.1219A>G) | gnomAD v4 |
| 7 | g.138706703T>G | CA369373998 | ATP6V0A4 | c.2444A>C (p.Asn815Thr) c.*9A>C (n.*9A>C) c.1670A>C (p.Asn557Thr) c.1219A>C (n.1219A>C) | |
| 7 | g.138706704T>A | CA369374001 | ATP6V0A4 | c.2443A>T (p.Asn815Tyr) c.*8A>T (n.*8A>T) c.1669A>T (p.Asn557Tyr) c.1218A>T (n.1218A>T) | |
| 7 | g.138706704T>C | CA369374003 | ATP6V0A4 | c.2443A>G (p.Asn815Asp) c.*8A>G (n.*8A>G) c.1669A>G (p.Asn557Asp) c.1218A>G (n.1218A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138706704T>G | CA369374002 | ATP6V0A4 | c.2443A>C (p.Asn815His) c.*8A>C (n.*8A>C) c.1669A>C (p.Asn557His) c.1218A>C (n.1218A>C) | |
| 7 | g.138706704T= | CA1746763245 | ATP6V0A4 | c.2443A= (p.Asn815=) c.*8A= (n.*8A=) c.1669A= (p.Asn557=) c.1218A= (n.1218A=) | |
| 7 | g.138706705C>A | CA369374004 | ATP6V0A4 | c.2442G>T (p.Gln814His) c.*7G>T (n.*7G>T) c.1668G>T (p.Gln556His) c.1217G>T (n.1217G>T) | |
| 7 | g.138706705C>G | CA369374005 | ATP6V0A4 | c.2442G>C (p.Gln814His) c.*7G>C (n.*7G>C) c.1668G>C (p.Gln556His) c.1217G>C (n.1217G>C) | |
| 7 | g.138706705C>T | CA457940722 | ATP6V0A4 | c.2442G>A (p.Gln814=) c.*7G>A (n.*7G>A) c.1668G>A (p.Gln556=) c.1217G>A (n.1217G>A) | |
| 7 | g.138706706del | CA2685126676 | ATP6V0A4 | c.2441del (p.Gln814ArgfsTer?) c.*6del (n.*6del) c.1667del (p.Gln556ArgfsTer?) c.1216del (n.1216del) | gnomAD v4 |
| 7 | g.138706706T>A | CA369374006 | ATP6V0A4 | c.2441A>T (p.Gln814Leu) c.*6A>T (n.*6A>T) c.1667A>T (p.Gln556Leu) c.1216A>T (n.1216A>T) | |
| 7 | g.138706706T>C | CA369374007 | ATP6V0A4 | c.2441A>G (p.Gln814Arg) c.*6A>G (n.*6A>G) c.1667A>G (p.Gln556Arg) c.1216A>G (n.1216A>G) | |
| 7 | g.138706706T>G | CA369374008 | ATP6V0A4 | c.2441A>C (p.Gln814Pro) c.*6A>C (n.*6A>C) c.1667A>C (p.Gln556Pro) c.1216A>C (n.1216A>C) | |
| 7 | g.138706707G>A | CA369374009 | ATP6V0A4 | c.2440C>T (p.Gln814Ter) c.*5C>T (n.*5C>T) c.1666C>T (p.Gln556Ter) c.1215C>T (n.1215C>T) | |
| 7 | g.138706707G>C | CA369374010 | ATP6V0A4 | c.2440C>G (p.Gln814Glu) c.*5C>G (n.*5C>G) c.1666C>G (p.Gln556Glu) c.1215C>G (n.1215C>G) | |
| 7 | g.138706707G>T | CA369374011 | ATP6V0A4 | c.2440C>A (p.Gln814Lys) c.*5C>A (n.*5C>A) c.1666C>A (p.Gln556Lys) c.1215C>A (n.1215C>A) | |
| 7 | g.138706708G>A | CA4504410 | ATP6V0A4 | c.2439C>T (p.Phe813=) c.*4C>T (n.*4C>T) c.1665C>T (p.Phe555=) c.1214C>T (n.1214C>T) | dbSNP ExAC |
| 7 | g.138706708G>C | CA369374012 | ATP6V0A4 | c.2439C>G (p.Phe813Leu) c.*4C>G (n.*4C>G) c.1665C>G (p.Phe555Leu) c.1214C>G (n.1214C>G) | |
| 7 | g.138706708G= | CA1746763249 | ATP6V0A4 | c.2439C= (p.Phe813=) c.*4C= (n.*4C=) c.1665C= (p.Phe555=) c.1214C= (n.1214C=) | |
| 7 | g.138706708G>T | CA369374013 | ATP6V0A4 | c.2439C>A (p.Phe813Leu) c.*4C>A (n.*4C>A) c.1665C>A (p.Phe555Leu) c.1214C>A (n.1214C>A) | |
| 7 | g.138706709A>C | CA369374017 | ATP6V0A4 | c.2438T>G (p.Phe813Cys) c.*3T>G (n.*3T>G) c.1664T>G (p.Phe555Cys) c.1213T>G (n.1213T>G) | |
| 7 | g.138706709A>G | CA369374016 | ATP6V0A4 | c.2438T>C (p.Phe813Ser) c.*3T>C (n.*3T>C) c.1664T>C (p.Phe555Ser) c.1213T>C (n.1213T>C) | |
| 7 | g.138706709A>T | CA369374015 | ATP6V0A4 | c.2438T>A (p.Phe813Tyr) c.*3T>A (n.*3T>A) c.1664T>A (p.Phe555Tyr) c.1213T>A (n.1213T>A) | |
| 7 | g.138706710A>C | CA369374018 | ATP6V0A4 | c.2437T>G (p.Phe813Val) c.*2T>G (n.*2T>G) c.1663T>G (p.Phe555Val) c.1212T>G (n.1212T>G) | |
| 7 | g.138706710A>G | CA369374019 | ATP6V0A4 | c.2437T>C (p.Phe813Leu) c.*2T>C (n.*2T>C) c.1663T>C (p.Phe555Leu) c.1212T>C (n.1212T>C) | |
| 7 | g.138706710A>T | CA369374020 | ATP6V0A4 | c.2437T>A (p.Phe813Ile) c.*2T>A (n.*2T>A) c.1663T>A (p.Phe555Ile) c.1212T>A (n.1212T>A) | |
| 7 | g.138706711C>A | CA369374022 | ATP6V0A4 | c.2436G>T (p.Glu812Asp) c.*1G>T (n.*1G>T) c.1662G>T (p.Glu554Asp) c.1211G>T (n.1211G>T) | |
| 7 | g.138706711C>G | CA369374023 | ATP6V0A4 | c.2436G>C (p.Glu812Asp) c.*1G>C (n.*1G>C) c.1662G>C (p.Glu554Asp) c.1211G>C (n.1211G>C) | |
| 7 | g.138706711C>T | CA457940723 | ATP6V0A4 | c.2436G>A (p.Glu812=) c.*1G>A (n.*1G>A) c.1662G>A (p.Glu554=) c.1211G>A (n.1211G>A) | |
| 7 | g.138706712T>A | CA369374025 | ATP6V0A4 | c.2435A>T (p.Glu812Val) c.1371A>T (p.Ter457Cys) c.1661A>T (p.Glu554Val) c.1210A>T (n.1210A>T) | |
| 7 | g.138706712T>C | CA369374026 | ATP6V0A4 | c.2435A>G (p.Glu812Gly) c.1371A>G (p.Ter457Trp) c.1661A>G (p.Glu554Gly) c.1210A>G (n.1210A>G) | |
| 7 | g.138706712T>G | CA369374028 | ATP6V0A4 | c.2435A>C (p.Glu812Ala) c.1371A>C (p.Ter457Cys) c.1661A>C (p.Glu554Ala) c.1210A>C (n.1210A>C) | |
| 7 | g.138706713C>A | CA369374030 | ATP6V0A4 | c.2434G>T (p.Glu812Ter) c.1370G>T (p.Ter457Leu) c.1660G>T (p.Glu554Ter) c.1209G>T (n.1209G>T) | |
| 7 | g.138706713C>G | CA369374031 | ATP6V0A4 | c.2434G>C (p.Glu812Gln) c.1370G>C (p.Ter457Ser) c.1660G>C (p.Glu554Gln) c.1209G>C (n.1209G>C) | |
| 7 | g.138706713C>T | CA369374032 | ATP6V0A4 | c.2434G>A (p.Glu812Lys) c.1370G>A (p.Ter457=) c.1660G>A (p.Glu554Lys) c.1209G>A (n.1209G>A) | |
| 7 | g.138706714A>C | CA457940724 | ATP6V0A4 | c.2433T>G (p.Val811=) c.1369T>G (p.Ter457Gly) c.1659T>G (p.Val553=) c.1208T>G (n.1208T>G) | gnomAD v4 |
| 7 | g.138706714A>G | CA457940725 | ATP6V0A4 | c.2433T>C (p.Val811=) c.1369T>C (p.Ter457Arg) c.1659T>C (p.Val553=) c.1208T>C (n.1208T>C) | |
| 7 | g.138706714A>T | CA457940726 | ATP6V0A4 | c.2433T>A (p.Val811=) c.1369T>A (p.Ter457Arg) c.1659T>A (p.Val553=) c.1208T>A (n.1208T>A) | |
| 7 | g.138706715A= | CA1746763263 | ATP6V0A4 | c.2432T= (p.Val811=) c.1368T= (p.Gly456=) c.1658T= (p.Val553=) c.1207T= (n.1207T=) | |
| 7 | g.138706715A>C | CA369374037 | ATP6V0A4 | c.2432T>G (p.Val811Gly) c.1368T>G (p.Gly456=) c.1658T>G (p.Val553Gly) c.1207T>G (n.1207T>G) | |
| 7 | g.138706715A>G | CA369374036 | ATP6V0A4 | c.2432T>C (p.Val811Ala) c.1368T>C (p.Gly456=) c.1658T>C (p.Val553Ala) c.1207T>C (n.1207T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138706715A>T | CA369374034 | ATP6V0A4 | c.2432T>A (p.Val811Asp) c.1368T>A (p.Gly456=) c.1658T>A (p.Val553Asp) c.1207T>A (n.1207T>A) | gnomAD v4 |
| 7 | g.138706716C>A | CA369374039 | ATP6V0A4 | c.2431G>T (p.Val811Phe) c.1367G>T (p.Gly456Val) c.1657G>T (p.Val553Phe) c.1206G>T (n.1206G>T) | |
| 7 | g.138706716C= | CA1746763266 | ATP6V0A4 | c.2431G= (p.Val811=) c.1367G= (p.Gly456=) c.1657G= (p.Val553=) c.1206G= (n.1206G=) | |
| 7 | g.138706716C>G | CA369374041 | ATP6V0A4 | c.2431G>C (p.Val811Leu) c.1367G>C (p.Gly456Ala) c.1657G>C (p.Val553Leu) c.1206G>C (n.1206G>C) | |
| 7 | g.138706716C>T | CA369374043 | ATP6V0A4 | c.2431G>A (p.Val811Ile) c.1367G>A (p.Gly456Asp) c.1657G>A (p.Val553Ile) c.1206G>A (n.1206G>A) | dbSNP |
| 7 | g.138706717C>A | CA369374045 | ATP6V0A4 | c.2430G>T (p.Trp810Cys) c.1366G>T (p.Gly456Cys) c.1656G>T (p.Trp552Cys) c.1205G>T (n.1205G>T) | |
| 7 | g.138706717C>G | CA369374047 | ATP6V0A4 | c.2430G>C (p.Trp810Cys) c.1366G>C (p.Gly456Arg) c.1656G>C (p.Trp552Cys) c.1205G>C (n.1205G>C) | |
| 7 | g.138706717C>T | CA369374048 | ATP6V0A4 | c.2430G>A (p.Trp810Ter) c.1366G>A (p.Gly456Ser) c.1656G>A (p.Trp552Ter) c.1205G>A (n.1205G>A) | ClinVar gnomAD v4 |