| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138732946G>A | CA4504642 | ATP6V0A4 | c.1839C>T (p.Leu613=) c.1065C>T (p.Leu355=) c.732C>T (p.Leu244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138732946G>C | CA458150212 | ATP6V0A4 | c.1839C>G (p.Leu613=) c.1065C>G (p.Leu355=) c.732C>G (p.Leu244=) | |
| 7 | g.138732946G= | CA1746776847 | ATP6V0A4 | c.1839C= (p.Leu613=) c.1065C= (p.Leu355=) c.732C= (p.Leu244=) | |
| 7 | g.138732946G>T | CA458150213 | ATP6V0A4 | c.1839C>A (p.Leu613=) c.1065C>A (p.Leu355=) c.732C>A (p.Leu244=) | |
| 7 | g.138732947A>C | CA369378969 | ATP6V0A4 | c.1838T>G (p.Leu613Arg) c.1064T>G (p.Leu355Arg) c.731T>G (p.Leu244Arg) | |
| 7 | g.138732947A>G | CA369378971 | ATP6V0A4 | c.1838T>C (p.Leu613Pro) c.1064T>C (p.Leu355Pro) c.731T>C (p.Leu244Pro) | |
| 7 | g.138732947A>T | CA369378974 | ATP6V0A4 | c.1838T>A (p.Leu613His) c.1064T>A (p.Leu355His) c.731T>A (p.Leu244His) | |
| 7 | g.138732948G>A | CA369378977 | ATP6V0A4 | c.1837C>T (p.Leu613Phe) c.1063C>T (p.Leu355Phe) c.730C>T (p.Leu244Phe) | |
| 7 | g.138732948G>C | CA369378979 | ATP6V0A4 | c.1837C>G (p.Leu613Val) c.1063C>G (p.Leu355Val) c.730C>G (p.Leu244Val) | |
| 7 | g.138732948G>T | CA369378981 | ATP6V0A4 | c.1837C>A (p.Leu613Ile) c.1063C>A (p.Leu355Ile) c.730C>A (p.Leu244Ile) | |
| 7 | g.138732949G>A | CA458150214 | ATP6V0A4 | c.1836C>T (p.Ile612=) c.1062C>T (p.Ile354=) c.729C>T (p.Ile243=) | |
| 7 | g.138732949G>C | CA369378983 | ATP6V0A4 | c.1836C>G (p.Ile612Met) c.1062C>G (p.Ile354Met) c.729C>G (p.Ile243Met) | |
| 7 | g.138732949G>T | CA458150215 | ATP6V0A4 | c.1836C>A (p.Ile612=) c.1062C>A (p.Ile354=) c.729C>A (p.Ile243=) | |
| 7 | g.138732950A= | CA1746776848 | ATP6V0A4 | c.1835T= (p.Ile612=) c.1061T= (p.Ile354=) c.728T= (p.Ile243=) | |
| 7 | g.138732950A>C | CA369378987 | ATP6V0A4 | c.1835T>G (p.Ile612Ser) c.1061T>G (p.Ile354Ser) c.728T>G (p.Ile243Ser) | |
| 7 | g.138732950A>G | CA369378990 | ATP6V0A4 | c.1835T>C (p.Ile612Thr) c.1061T>C (p.Ile354Thr) c.728T>C (p.Ile243Thr) | |
| 7 | g.138732950A>T | CA369378986 | ATP6V0A4 | c.1835T>A (p.Ile612Asn) c.1061T>A (p.Ile354Asn) c.728T>A (p.Ile243Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138732951T>A | CA369378998 | ATP6V0A4 | c.1834A>T (p.Ile612Phe) c.1060A>T (p.Ile354Phe) c.727A>T (p.Ile243Phe) | |
| 7 | g.138732951T>C | CA369378993 | ATP6V0A4 | c.1834A>G (p.Ile612Val) c.1060A>G (p.Ile354Val) c.727A>G (p.Ile243Val) | |
| 7 | g.138732951T>G | CA369379002 | ATP6V0A4 | c.1834A>C (p.Ile612Leu) c.1060A>C (p.Ile354Leu) c.727A>C (p.Ile243Leu) | |
| 7 | g.138732952G>A | CA458150216 | ATP6V0A4 | c.1833C>T (p.Ser611=) c.1059C>T (p.Ser353=) c.726C>T (p.Ser242=) | gnomAD v4 |
| 7 | g.138732952G>C | CA369379005 | ATP6V0A4 | c.1833C>G (p.Ser611Arg) c.1059C>G (p.Ser353Arg) c.726C>G (p.Ser242Arg) | |
| 7 | g.138732952G= | CA1746776849 | ATP6V0A4 | c.1833C= (p.Ser611=) c.1059C= (p.Ser353=) c.726C= (p.Ser242=) | |
| 7 | g.138732952G>T | CA4504643 | ATP6V0A4 | c.1833C>A (p.Ser611Arg) c.1059C>A (p.Ser353Arg) c.726C>A (p.Ser242Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138732953C>A | CA369379009 | ATP6V0A4 | c.1832G>T (p.Ser611Ile) c.1058G>T (p.Ser353Ile) c.725G>T (p.Ser242Ile) | |
| 7 | g.138732953C>G | CA369379011 | ATP6V0A4 | c.1832G>C (p.Ser611Thr) c.1058G>C (p.Ser353Thr) c.725G>C (p.Ser242Thr) | |
| 7 | g.138732953C>T | CA369379013 | ATP6V0A4 | c.1832G>A (p.Ser611Asn) c.1058G>A (p.Ser353Asn) c.725G>A (p.Ser242Asn) | |
| 7 | g.138732953_138732954delinsA | CA2695208555 | ATP6V0A4 | c.1831_1832delinsT (p.Ile612SerfsTer?) c.1057_1058delinsT (p.Ile354SerfsTer?) c.724_725delinsT (p.Ile243SerfsTer?) | |
| 7 | g.138732954T>A | CA369379016 | ATP6V0A4 | c.1831A>T (p.Ser611Cys) c.1057A>T (p.Ser353Cys) c.724A>T (p.Ser242Cys) | |
| 7 | g.138732954T>C | CA369379017 | ATP6V0A4 | c.1831A>G (p.Ser611Gly) c.1057A>G (p.Ser353Gly) c.724A>G (p.Ser242Gly) | |
| 7 | g.138732954T>G | CA369379020 | ATP6V0A4 | c.1831A>C (p.Ser611Arg) c.1057A>C (p.Ser353Arg) c.724A>C (p.Ser242Arg) | |
| 7 | g.138732955G>A | CA458150219 | ATP6V0A4 | c.1830C>T (p.Pro610=) c.1056C>T (p.Pro352=) c.723C>T (p.Pro241=) | gnomAD v4 |
| 7 | g.138732955G>C | CA458150218 | ATP6V0A4 | c.1830C>G (p.Pro610=) c.1056C>G (p.Pro352=) c.723C>G (p.Pro241=) | |
| 7 | g.138732955G>T | CA458150217 | ATP6V0A4 | c.1830C>A (p.Pro610=) c.1056C>A (p.Pro352=) c.723C>A (p.Pro241=) | |
| 7 | g.138732959del | CA2579035692 | ATP6V0A4 | c.1830del (p.Ser611AlafsTer?) c.1056del (p.Ser353AlafsTer?) c.723del (p.Ser242AlafsTer?) | |
| 7 | g.138732956G>A | CA369379024 | ATP6V0A4 | c.1829C>T (p.Pro610Leu) c.1055C>T (p.Pro352Leu) c.722C>T (p.Pro241Leu) | |
| 7 | g.138732956G>C | CA369379026 | ATP6V0A4 | c.1829C>G (p.Pro610Arg) c.1055C>G (p.Pro352Arg) c.722C>G (p.Pro241Arg) | |
| 7 | g.138732956G>T | CA369379029 | ATP6V0A4 | c.1829C>A (p.Pro610His) c.1055C>A (p.Pro352His) c.722C>A (p.Pro241His) | |
| 7 | g.138732957G>A | CA369379036 | ATP6V0A4 | c.1828C>T (p.Pro610Ser) c.1054C>T (p.Pro352Ser) c.721C>T (p.Pro241Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138732957G>C | CA369379035 | ATP6V0A4 | c.1828C>G (p.Pro610Ala) c.1054C>G (p.Pro352Ala) c.721C>G (p.Pro241Ala) | |
| 7 | g.138732957G= | CA1746776850 | ATP6V0A4 | c.1828C= (p.Pro610=) c.1054C= (p.Pro352=) c.721C= (p.Pro241=) | |
| 7 | g.138732957G>T | CA369379033 | ATP6V0A4 | c.1828C>A (p.Pro610Thr) c.1054C>A (p.Pro352Thr) c.721C>A (p.Pro241Thr) | |
| 7 | g.138732958G>A | CA458150220 | ATP6V0A4 | c.1827C>T (p.Ala609=) c.1053C>T (p.Ala351=) c.720C>T (p.Ala240=) | |
| 7 | g.138732958G>C | CA458150222 | ATP6V0A4 | c.1827C>G (p.Ala609=) c.1053C>G (p.Ala351=) c.720C>G (p.Ala240=) | |
| 7 | g.138732958G>T | CA458150221 | ATP6V0A4 | c.1827C>A (p.Ala609=) c.1053C>A (p.Ala351=) c.720C>A (p.Ala240=) | gnomAD v4 |
| 7 | g.138732959G>A | CA167133066 | ATP6V0A4 | c.1826C>T (p.Ala609Val) c.1052C>T (p.Ala351Val) c.719C>T (p.Ala240Val) | dbSNP gnomAD v4 |
| 7 | g.138732959G>C | CA369379040 | ATP6V0A4 | c.1826C>G (p.Ala609Gly) c.1052C>G (p.Ala351Gly) c.719C>G (p.Ala240Gly) | |
| 7 | g.138732959G= | CA1746776851 | ATP6V0A4 | c.1826C= (p.Ala609=) c.1052C= (p.Ala351=) c.719C= (p.Ala240=) | |
| 7 | g.138732959G>T | CA369379042 | ATP6V0A4 | c.1826C>A (p.Ala609Asp) c.1052C>A (p.Ala351Asp) c.719C>A (p.Ala240Asp) | |
| 7 | g.138732960C>A | CA369379045 | ATP6V0A4 | c.1825G>T (p.Ala609Ser) c.1051G>T (p.Ala351Ser) c.718G>T (p.Ala240Ser) | gnomAD v4 |