| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138706590C>A | CA652143477 | ATP6V0A4 | c.*34G>T (p.=) c.*122G>T (p.=) n.1332G>T (p.=) | COSMIC |
| 7 | g.138706591A= | CA1746763721 | ATP6V0A4 | c.*33T= (p.=) c.*121T= (p.=) n.1331T= (p.=) | |
| 7 | g.138706591A>G | CA4504392 | ATP6V0A4 | c.*33T>C (p.=) c.*121T>C (p.=) n.1331T>C (p.=) | dbSNP ExAC gnomAD |
| 7 | g.138706598C= | CA1746763723 | ATP6V0A4 | c.*26G= (p.=) c.*114G= (p.=) n.1324G= (p.=) | |
| 7 | g.138706598C>T | CA834065117 | ATP6V0A4 | c.*26G>A (p.=) c.*114G>A (p.=) n.1324G>A (p.=) | |
| 7 | g.138706599C= | CA1746763724 | ATP6V0A4 | c.*25G= (p.=) c.*113G= (p.=) n.1323G= (p.=) | |
| 7 | g.138706599C>T | CA834065118 | ATP6V0A4 | c.*25G>A (p.=) c.*113G>A (p.=) n.1323G>A (p.=) | |
| 7 | g.138706600A= | CA1746763727 | ATP6V0A4 | c.*24T= (p.=) c.*112T= (p.=) n.1322T= (p.=) | |
| 7 | g.138706600A>G | CA4504393 | ATP6V0A4 | c.*24T>C (p.=) c.*112T>C (p.=) n.1322T>C (p.=) | dbSNP ExAC gnomAD |
| 7 | g.138706600A>T | CA10628261 | ATP6V0A4 | c.*24T>A (p.=) c.*112T>A (p.=) n.1322T>A (p.=) | ClinVar dbSNP gnomAD |
| 7 | g.138706601C>A | CA1107782013 | ATP6V0A4 | c.*23G>T (p.=) c.*111G>T (p.=) n.1321G>T (p.=) | |
| 7 | g.138706601C= | CA1746763734 | ATP6V0A4 | c.*23G= (p.=) c.*111G= (p.=) n.1321G= (p.=) | |
| 7 | g.138706601C>T | CA578206613 | ATP6V0A4 | c.*23G>A (p.=) c.*111G>A (p.=) n.1321G>A (p.=) | gnomAD |
| 7 | g.138706602C= | CA1746763738 | ATP6V0A4 | c.*22G= (p.=) c.*110G= (p.=) n.1320G= (p.=) | |
| 7 | g.138706602C>T | CA167113251 | ATP6V0A4 | c.*22G>A (p.=) c.*110G>A (p.=) n.1320G>A (p.=) | dbSNP |
| 7 | g.138706603G>A | CA4504394 | ATP6V0A4 | c.*21C>T (p.=) c.*109C>T (p.=) n.1319C>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.138706603G= | CA1746763740 | ATP6V0A4 | c.*21C= (p.=) c.*109C= (p.=) n.1319C= (p.=) | |
| 7 | g.138706609G>A | CA1746763745 | ATP6V0A4 | c.*15C>T (p.=) c.*103C>T (p.=) n.1313C>T (p.=) | |
| 7 | g.138706609G= | CA1746763743 | ATP6V0A4 | c.*15C= (p.=) c.*103C= (p.=) n.1313C= (p.=) | |
| 7 | g.138706610G>A | CA4504395 | ATP6V0A4 | c.*14C>T (p.=) c.*102C>T (p.=) n.1312C>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.138706610G= | CA1746763749 | ATP6V0A4 | c.*14C= (p.=) c.*102C= (p.=) n.1312C= (p.=) | |
| 7 | g.138706610G>T | CA578206617 | ATP6V0A4 | c.*14C>A (p.=) c.*102C>A (p.=) n.1312C>A (p.=) | gnomAD |
| 7 | g.138706619T>C | CA1746763753 | ATP6V0A4 | c.*5A>G (p.=) c.*93A>G (p.=) n.1303A>G (p.=) | |
| 7 | g.138706619T= | CA1746763752 | ATP6V0A4 | c.*5A= (p.=) c.*93A= (p.=) n.1303A= (p.=) | |
| 7 | g.138706620C= | CA1746763754 | ATP6V0A4 | c.*4G= (p.=) c.*92G= (p.=) n.1302G= (p.=) | |
| 7 | g.138706620C>T | CA4504396 | ATP6V0A4 | c.*4G>A (p.=) c.*92G>A (p.=) n.1302G>A (p.=) | dbSNP ExAC gnomAD |
| 7 | g.138706622G>A | CA4504397 | ATP6V0A4 | c.*2C>T c.*90C>T (p.=) n.1300C>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.138706622G= | CA1746763757 | ATP6V0A4 | c.*2C= c.*90C= (p.=) n.1300C= (p.=) | |
| 7 | g.138706623C>A | CA4504398 | ATP6V0A4 | c.*1G>T c.*89G>T (p.=) n.1299G>T (p.=) | dbSNP ExAC gnomAD |
| 7 | g.138706623C= | CA1746763758 | ATP6V0A4 | c.*1G= c.*89G= (p.=) n.1299G= (p.=) | |
| 7 | g.138706623C>G | CA578206628 | ATP6V0A4 | c.*1G>C c.*89G>C (p.=) n.1299G>C (p.=) | gnomAD |
| 7 | g.138706624C>A | CA369373577 | ATP6V0A4 | c.2523G>T (p.Ter841Tyr) c.*88G>T (p.=) c.1749G>T (p.Ter583Tyr) n.1298G>T (p.=) | |
| 7 | g.138706624C= | CA1746763760 | ATP6V0A4 | c.2523G= (p.Ter841=) c.*88G= (p.=) c.1749G= (p.Ter583=) n.1298G= (p.=) | |
| 7 | g.138706624C>G | CA369373575 | ATP6V0A4 | c.2523G>C (p.Ter841Tyr) c.*88G>C (p.=) c.1749G>C (p.Ter583Tyr) n.1298G>C (p.=) | |
| 7 | g.138706624C>T | CA457940633 | ATP6V0A4 | c.2523G>A (p.Ter841=) c.*88G>A (p.=) c.1749G>A (p.Ter583=) n.1298G>A (p.=) | gnomAD |
| 7 | g.138706625T>A | CA369373583 | ATP6V0A4 | c.2522A>T (p.Ter841Leu) c.*87A>T (p.=) c.1748A>T (p.Ter583Leu) n.1297A>T (p.=) | |
| 7 | g.138706625T>C | CA369373580 | ATP6V0A4 | c.2522A>G (p.Ter841Trp) c.*87A>G (p.=) c.1748A>G (p.Ter583Trp) n.1297A>G (p.=) | |
| 7 | g.138706625T>G | CA369373582 | ATP6V0A4 | c.2522A>C (p.Ter841Ser) c.*87A>C (p.=) c.1748A>C (p.Ter583Ser) n.1297A>C (p.=) | |
| 7 | g.138706626A>C | CA369373585 | ATP6V0A4 | c.2521T>G (p.Ter841Glu) c.*86T>G (p.=) c.1747T>G (p.Ter583Glu) n.1296T>G (p.=) | |
| 7 | g.138706626A>G | CA369373588 | ATP6V0A4 | c.2521T>C (p.Ter841Gln) c.*86T>C (p.=) c.1747T>C (p.Ter583Gln) n.1296T>C (p.=) | |
| 7 | g.138706626A>T | CA369373591 | ATP6V0A4 | c.2521T>A (p.Ter841Lys) c.*86T>A (p.=) c.1747T>A (p.Ter583Lys) n.1296T>A (p.=) | |
| 7 | g.138706627C>A | CA369373594 | ATP6V0A4 | c.2520G>T (p.Glu840Asp) c.*85G>T (p.=) c.1746G>T (p.Glu582Asp) n.1295G>T (p.=) | |
| 7 | g.138706627C= | CA1746763184 | ATP6V0A4 | c.2520G= (p.Glu840=) c.*85G= (p.=) c.1746G= (p.Glu582=) n.1295G= (p.=) | |
| 7 | g.138706627C>G | CA369373597 | ATP6V0A4 | c.2520G>C (p.Glu840Asp) c.*85G>C (p.=) c.1746G>C (p.Glu582Asp) n.1295G>C (p.=) | |
| 7 | g.138706627C>T | CA167113294 | ATP6V0A4 | c.2520G>A (p.Glu840=) c.*85G>A (p.=) c.1746G>A (p.Glu582=) n.1295G>A (p.=) | dbSNP |
| 7 | g.138706628T>A | CA369373602 | ATP6V0A4 | c.2519A>T (p.Glu840Val) c.*84A>T (p.=) c.1745A>T (p.Glu582Val) n.1294A>T (p.=) | |
| 7 | g.138706628T>C | CA369373604 | ATP6V0A4 | c.2519A>G (p.Glu840Gly) c.*84A>G (p.=) c.1745A>G (p.Glu582Gly) n.1294A>G (p.=) | |
| 7 | g.138706628T>G | CA369373607 | ATP6V0A4 | c.2519A>C (p.Glu840Ala) c.*84A>C (p.=) c.1745A>C (p.Glu582Ala) n.1294A>C (p.=) | |
| 7 | g.138706629C>A | CA369373616 | ATP6V0A4 | c.2518G>T (p.Glu840Ter) c.*83G>T (p.=) c.1744G>T (p.Glu582Ter) n.1293G>T (p.=) | |
| 7 | g.138706629C>G | CA369373614 | ATP6V0A4 | c.2518G>C (p.Glu840Gln) c.*83G>C (p.=) c.1744G>C (p.Glu582Gln) n.1293G>C (p.=) |