Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138733045_138733046delinsTG | CA2580077501 | ATP6V0A4 | c.1739_1740delinsCA (p.Met580Thr) c.965_966delinsCA (p.Met322Thr) c.632_633delinsCA (p.Met211Thr) | ClinVar |
7 | g.138733046A= | CA1630834986 | ATP6V0A4 | c.1739T= (p.Met580=) c.965T= (p.Met322=) c.632T= (p.Met211=) | |
7 | g.138733046A>C | CA369379404 | ATP6V0A4 | c.1739T>G (p.Met580Arg) c.965T>G (p.Met322Arg) c.632T>G (p.Met211Arg) | |
7 | g.138733046A>G | CA117293 | ATP6V0A4 | c.1739T>C (p.Met580Thr) c.965T>C (p.Met322Thr) c.632T>C (p.Met211Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733046A>T | CA369379405 | ATP6V0A4 | c.1739T>A (p.Met580Lys) c.965T>A (p.Met322Lys) c.632T>A (p.Met211Lys) | |
7 | g.138733047T>A | CA369379408 | ATP6V0A4 | c.1738A>T (p.Met580Leu) c.964A>T (p.Met322Leu) c.631A>T (p.Met211Leu) | |
7 | g.138733047T>C | CA369379407 | ATP6V0A4 | c.1738A>G (p.Met580Val) c.964A>G (p.Met322Val) c.631A>G (p.Met211Val) | |
7 | g.138733047T>G | CA369379406 | ATP6V0A4 | c.1738A>C (p.Met580Leu) c.964A>C (p.Met322Leu) c.631A>C (p.Met211Leu) | |
7 | g.138733048C>A | CA369379409 | ATP6V0A4 | c.1737G>T (p.Glu579Asp) c.963G>T (p.Glu321Asp) c.630G>T (p.Glu210Asp) | |
7 | g.138733048C= | CA1746776882 | ATP6V0A4 | c.1737G= (p.Glu579=) c.963G= (p.Glu321=) c.630G= (p.Glu210=) | |
7 | g.138733048C>G | CA369379410 | ATP6V0A4 | c.1737G>C (p.Glu579Asp) c.963G>C (p.Glu321Asp) c.630G>C (p.Glu210Asp) | |
7 | g.138733048C>T | CA4504661 | ATP6V0A4 | c.1737G>A (p.Glu579=) c.963G>A (p.Glu321=) c.630G>A (p.Glu210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138733049T>A | CA369379411 | ATP6V0A4 | c.1736A>T (p.Glu579Val) c.962A>T (p.Glu321Val) c.629A>T (p.Glu210Val) | |
7 | g.138733049T>C | CA369379412 | ATP6V0A4 | c.1736A>G (p.Glu579Gly) c.962A>G (p.Glu321Gly) c.629A>G (p.Glu210Gly) | gnomAD v4 |
7 | g.138733049T>G | CA369379413 | ATP6V0A4 | c.1736A>C (p.Glu579Ala) c.962A>C (p.Glu321Ala) c.629A>C (p.Glu210Ala) | gnomAD v4 |
7 | g.138733050C>A | CA369379414 | ATP6V0A4 | c.1735G>T (p.Glu579Ter) c.961G>T (p.Glu321Ter) c.628G>T (p.Glu210Ter) | |
7 | g.138733050C= | CA1746776883 | ATP6V0A4 | c.1735G= (p.Glu579=) c.961G= (p.Glu321=) c.628G= (p.Glu210=) | |
7 | g.138733050C>G | CA369379415 | ATP6V0A4 | c.1735G>C (p.Glu579Gln) c.961G>C (p.Glu321Gln) c.628G>C (p.Glu210Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733050C>T | CA369379416 | ATP6V0A4 | c.1735G>A (p.Glu579Lys) c.961G>A (p.Glu321Lys) c.628G>A (p.Glu210Lys) | |
7 | g.138733051A>C | CA458150260 | ATP6V0A4 | c.1734T>G (p.Pro578=) c.960T>G (p.Pro320=) c.627T>G (p.Pro209=) | gnomAD v4 |
7 | g.138733051A>G | CA458150261 | ATP6V0A4 | c.1734T>C (p.Pro578=) c.960T>C (p.Pro320=) c.627T>C (p.Pro209=) | |
7 | g.138733051A>T | CA458150263 | ATP6V0A4 | c.1734T>A (p.Pro578=) c.960T>A (p.Pro320=) c.627T>A (p.Pro209=) | |
7 | g.138733052G>A | CA369379417 | ATP6V0A4 | c.1733C>T (p.Pro578Leu) c.959C>T (p.Pro320Leu) c.626C>T (p.Pro209Leu) | ClinVar dbSNP |
7 | g.138733052G>C | CA369379418 | ATP6V0A4 | c.1733C>G (p.Pro578Arg) c.959C>G (p.Pro320Arg) c.626C>G (p.Pro209Arg) | |
7 | g.138733052G= | CA1746776884 | ATP6V0A4 | c.1733C= (p.Pro578=) c.959C= (p.Pro320=) c.626C= (p.Pro209=) | |
7 | g.138733052G>T | CA369379419 | ATP6V0A4 | c.1733C>A (p.Pro578His) c.959C>A (p.Pro320His) c.626C>A (p.Pro209His) | |
7 | g.138733053G>A | CA369379422 | ATP6V0A4 | c.1732C>T (p.Pro578Ser) c.958C>T (p.Pro320Ser) c.625C>T (p.Pro209Ser) | dbSNP gnomAD v2 |
7 | g.138733053G>C | CA369379421 | ATP6V0A4 | c.1732C>G (p.Pro578Ala) c.958C>G (p.Pro320Ala) c.625C>G (p.Pro209Ala) | gnomAD v4 |
7 | g.138733053G= | CA1746776885 | ATP6V0A4 | c.1732C= (p.Pro578=) c.958C= (p.Pro320=) c.625C= (p.Pro209=) | |
7 | g.138733053G>T | CA369379420 | ATP6V0A4 | c.1732C>A (p.Pro578Thr) c.958C>A (p.Pro320Thr) c.625C>A (p.Pro209Thr) | COSMIC |
7 | g.138733054G>A | CA458150270 | ATP6V0A4 | c.1731C>T (p.Ile577=) c.957C>T (p.Ile319=) c.624C>T (p.Ile208=) | dbSNP gnomAD v4 |
7 | g.138733054G>C | CA369379423 | ATP6V0A4 | c.1731C>G (p.Ile577Met) c.957C>G (p.Ile319Met) c.624C>G (p.Ile208Met) | |
7 | g.138733054G= | CA1746776886 | ATP6V0A4 | c.1731C= (p.Ile577=) c.957C= (p.Ile319=) c.624C= (p.Ile208=) | |
7 | g.138733054G>T | CA458150273 | ATP6V0A4 | c.1731C>A (p.Ile577=) c.957C>A (p.Ile319=) c.624C>A (p.Ile208=) | |
7 | g.138733055A>C | CA369379425 | ATP6V0A4 | c.1730T>G (p.Ile577Ser) c.956T>G (p.Ile319Ser) c.623T>G (p.Ile208Ser) | |
7 | g.138733055A>G | CA369379424 | ATP6V0A4 | c.1730T>C (p.Ile577Thr) c.956T>C (p.Ile319Thr) c.623T>C (p.Ile208Thr) | |
7 | g.138733055A>T | CA369379426 | ATP6V0A4 | c.1730T>A (p.Ile577Asn) c.956T>A (p.Ile319Asn) c.623T>A (p.Ile208Asn) | |
7 | g.138733055_138733056delinsAT | CA1746776887 | ATP6V0A4 | c.1729_1730delinsAT (p.Ile577=) c.955_956delinsAT (p.Ile319=) c.622_623delinsAT (p.Ile208=) | |
7 | g.138733056del | CA913189644 | ATP6V0A4 | c.1729del (p.Ile577SerfsTer4) c.955del (p.Ile319SerfsTer4) c.622del (p.Ile208SerfsTer4) | ClinVar dbSNP |
7 | g.138733056T>A | CA369379427 | ATP6V0A4 | c.1729A>T (p.Ile577Phe) c.955A>T (p.Ile319Phe) c.622A>T (p.Ile208Phe) | |
7 | g.138733056T>C | CA369379429 | ATP6V0A4 | c.1729A>G (p.Ile577Val) c.955A>G (p.Ile319Val) c.622A>G (p.Ile208Val) | |
7 | g.138733056T>G | CA369379428 | ATP6V0A4 | c.1729A>C (p.Ile577Leu) c.955A>C (p.Ile319Leu) c.622A>C (p.Ile208Leu) | gnomAD v4 |
7 | g.138733057A>C | CA369379430 | ATP6V0A4 | c.1728T>G (p.Phe576Leu) c.954T>G (p.Phe318Leu) c.621T>G (p.Phe207Leu) | |
7 | g.138733057A>G | CA458150278 | ATP6V0A4 | c.1728T>C (p.Phe576=) c.954T>C (p.Phe318=) c.621T>C (p.Phe207=) | |
7 | g.138733057A>T | CA369379431 | ATP6V0A4 | c.1728T>A (p.Phe576Leu) c.954T>A (p.Phe318Leu) c.621T>A (p.Phe207Leu) | |
7 | g.138733058A= | CA1746776888 | ATP6V0A4 | c.1727T= (p.Phe576=) c.953T= (p.Phe318=) c.620T= (p.Phe207=) | |
7 | g.138733058A>C | CA369379432 | ATP6V0A4 | c.1727T>G (p.Phe576Cys) c.953T>G (p.Phe318Cys) c.620T>G (p.Phe207Cys) | |
7 | g.138733058A>G | CA369379433 | ATP6V0A4 | c.1727T>C (p.Phe576Ser) c.953T>C (p.Phe318Ser) c.620T>C (p.Phe207Ser) | |
7 | g.138733058A>T | CA369379434 | ATP6V0A4 | c.1727T>A (p.Phe576Tyr) c.953T>A (p.Phe318Tyr) c.620T>A (p.Phe207Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733059A>C | CA369379435 | ATP6V0A4 | c.1726T>G (p.Phe576Val) c.952T>G (p.Phe318Val) c.619T>G (p.Phe207Val) |