Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138733043A>C | CA369379396 | ATP6V0A4 | c.1742T>G (p.Ile581Ser) c.968T>G (p.Ile323Ser) c.635T>G (p.Ile212Ser) | |
7 | g.138733043A>G | CA369379397 | ATP6V0A4 | c.1742T>C (p.Ile581Thr) c.968T>C (p.Ile323Thr) c.635T>C (p.Ile212Thr) | |
7 | g.138733043A>T | CA369379398 | ATP6V0A4 | c.1742T>A (p.Ile581Asn) c.968T>A (p.Ile323Asn) c.635T>A (p.Ile212Asn) | |
7 | g.138733044T>A | CA369379399 | ATP6V0A4 | c.1741A>T (p.Ile581Phe) c.967A>T (p.Ile323Phe) c.634A>T (p.Ile212Phe) | |
7 | g.138733044T>C | CA369379400 | ATP6V0A4 | c.1741A>G (p.Ile581Val) c.967A>G (p.Ile323Val) c.634A>G (p.Ile212Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138733044T>G | CA369379401 | ATP6V0A4 | c.1741A>C (p.Ile581Leu) c.967A>C (p.Ile323Leu) c.634A>C (p.Ile212Leu) | |
7 | g.138733044T= | CA1746776880 | ATP6V0A4 | c.1741A= (p.Ile581=) c.967A= (p.Ile323=) c.634A= (p.Ile212=) | |
7 | g.138733045C>A | CA369379402 | ATP6V0A4 | c.1740G>T (p.Met580Ile) c.966G>T (p.Met322Ile) c.633G>T (p.Met211Ile) | |
7 | g.138733045C= | CA1746776881 | ATP6V0A4 | c.1740G= (p.Met580=) c.966G= (p.Met322=) c.633G= (p.Met211=) | |
7 | g.138733045C>G | CA369379403 | ATP6V0A4 | c.1740G>C (p.Met580Ile) c.966G>C (p.Met322Ile) c.633G>C (p.Met211Ile) | gnomAD v4 |
7 | g.138733045C>T | CA4504660 | ATP6V0A4 | c.1740G>A (p.Met580Ile) c.966G>A (p.Met322Ile) c.633G>A (p.Met211Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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) | |
7 | g.138733059A>G | CA369379436 | ATP6V0A4 | c.1726T>C (p.Phe576Leu) c.952T>C (p.Phe318Leu) c.619T>C (p.Phe207Leu) | |
7 | g.138733059A>T | CA369379437 | ATP6V0A4 | c.1726T>A (p.Phe576Ile) c.952T>A (p.Phe318Ile) c.619T>A (p.Phe207Ile) | |
7 | g.138733060T>A | CA369379438 | ATP6V0A4 | c.1725A>T (p.Gln575His) c.951A>T (p.Gln317His) c.618A>T (p.Gln206His) | |
7 | g.138733060T>C | CA4504662 | ATP6V0A4 | c.1725A>G (p.Gln575=) c.951A>G (p.Gln317=) c.618A>G (p.Gln206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733060T>G | CA369379439 | ATP6V0A4 | c.1725A>C (p.Gln575His) c.951A>C (p.Gln317His) c.618A>C (p.Gln206His) | |
7 | g.138733060T= | CA1746776889 | ATP6V0A4 | c.1725A= (p.Gln575=) c.951A= (p.Gln317=) c.618A= (p.Gln206=) | |
7 | g.138733061T>A | CA369379440 | ATP6V0A4 | c.1724A>T (p.Gln575Leu) c.950A>T (p.Gln317Leu) c.617A>T (p.Gln206Leu) | |
7 | g.138733061T>C | CA369379441 | ATP6V0A4 | c.1724A>G (p.Gln575Arg) c.950A>G (p.Gln317Arg) c.617A>G (p.Gln206Arg) | gnomAD v4 |
7 | g.138733061T>G | CA369379442 | ATP6V0A4 | c.1724A>C (p.Gln575Pro) c.950A>C (p.Gln317Pro) c.617A>C (p.Gln206Pro) | |
7 | g.138733062G>A | CA369379445 | ATP6V0A4 | c.1723C>T (p.Gln575Ter) c.949C>T (p.Gln317Ter) c.616C>T (p.Gln206Ter) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138733062G>C | CA369379443 | ATP6V0A4 | c.1723C>G (p.Gln575Glu) c.949C>G (p.Gln317Glu) c.616C>G (p.Gln206Glu) | |
7 | g.138733062G= | CA1746776890 | ATP6V0A4 | c.1723C= (p.Gln575=) c.949C= (p.Gln317=) c.616C= (p.Gln206=) | |
7 | g.138733062G>T | CA369379444 | ATP6V0A4 | c.1723C>A (p.Gln575Lys) c.949C>A (p.Gln317Lys) c.616C>A (p.Gln206Lys) | |
7 | g.138733063C>A | CA458150293 | ATP6V0A4 | c.1722G>T (p.Leu574=) c.948G>T (p.Leu316=) c.615G>T (p.Leu205=) | |
7 | g.138733063C>G | CA458150295 | ATP6V0A4 | c.1722G>C (p.Leu574=) c.948G>C (p.Leu316=) c.615G>C (p.Leu205=) | |
7 | g.138733063C>T | CA458150296 | ATP6V0A4 | c.1722G>A (p.Leu574=) c.948G>A (p.Leu316=) c.615G>A (p.Leu205=) | gnomAD v4 |
7 | g.138733064A>C | CA369379446 | ATP6V0A4 | c.1721T>G (p.Leu574Arg) c.947T>G (p.Leu316Arg) c.614T>G (p.Leu205Arg) | |
7 | g.138733064A>G | CA369379447 | ATP6V0A4 | c.1721T>C (p.Leu574Pro) c.947T>C (p.Leu316Pro) c.614T>C (p.Leu205Pro) | |
7 | g.138733064A>T | CA369379448 | ATP6V0A4 | c.1721T>A (p.Leu574Gln) c.947T>A (p.Leu316Gln) c.614T>A (p.Leu205Gln) | |
7 | g.138733065G>A | CA458150302 | ATP6V0A4 | c.1720C>T (p.Leu574=) c.946C>T (p.Leu316=) c.613C>T (p.Leu205=) | |
7 | g.138733065G>C | CA369379449 | ATP6V0A4 | c.1720C>G (p.Leu574Val) c.946C>G (p.Leu316Val) c.613C>G (p.Leu205Val) | |
7 | g.138733065G>T | CA369379450 | ATP6V0A4 | c.1720C>A (p.Leu574Met) c.946C>A (p.Leu316Met) c.613C>A (p.Leu205Met) | |
7 | g.138733066_138733072dup | CA2685127695 | ATP6V0A4 | c.1714_1720dup (p.Leu574HisfsTer8) c.940_946dup (p.Leu316HisfsTer8) c.607_613dup (p.Leu205HisfsTer8) | gnomAD v4 |
7 | g.138733066A= | CA1746776891 | ATP6V0A4 | c.1719T= (p.Ile573=) c.945T= (p.Ile315=) c.612T= (p.Ile204=) | |
7 | g.138733066A>C | CA369379451 | ATP6V0A4 | c.1719T>G (p.Ile573Met) c.945T>G (p.Ile315Met) c.612T>G (p.Ile204Met) | |
7 | g.138733066A>G | CA4504663 | ATP6V0A4 | c.1719T>C (p.Ile573=) c.945T>C (p.Ile315=) c.612T>C (p.Ile204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733066A>T | CA458150304 | ATP6V0A4 | c.1719T>A (p.Ile573=) c.945T>A (p.Ile315=) c.612T>A (p.Ile204=) | |
7 | g.138733067A>C | CA369379452 | ATP6V0A4 | c.1718T>G (p.Ile573Ser) c.944T>G (p.Ile315Ser) c.611T>G (p.Ile204Ser) | |
7 | g.138733067A>G | CA369379453 | ATP6V0A4 | c.1718T>C (p.Ile573Thr) c.944T>C (p.Ile315Thr) c.611T>C (p.Ile204Thr) | |
7 | g.138733067A>T | CA369379454 | ATP6V0A4 | c.1718T>A (p.Ile573Asn) c.944T>A (p.Ile315Asn) c.611T>A (p.Ile204Asn) | |
7 | g.138733068T>A | CA369379456 | ATP6V0A4 | c.1717A>T (p.Ile573Phe) c.943A>T (p.Ile315Phe) c.610A>T (p.Ile204Phe) | |
7 | g.138733068T>C | CA4504664 | ATP6V0A4 | c.1717A>G (p.Ile573Val) c.943A>G (p.Ile315Val) c.610A>G (p.Ile204Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138733068T>G | CA369379455 | ATP6V0A4 | c.1717A>C (p.Ile573Leu) c.943A>C (p.Ile315Leu) c.610A>C (p.Ile204Leu) | |
7 | g.138733068T= | CA1746776892 | ATP6V0A4 | c.1717A= (p.Ile573=) c.943A= (p.Ile315=) c.610A= (p.Ile204=) | |
7 | g.138733069G>A | CA458150306 | ATP6V0A4 | c.1716C>T (p.Ile572=) c.942C>T (p.Ile314=) c.609C>T (p.Ile203=) | gnomAD v4 |
7 | g.138733069G>C | CA369379457 | ATP6V0A4 | c.1716C>G (p.Ile572Met) c.942C>G (p.Ile314Met) c.609C>G (p.Ile203Met) | |
7 | g.138733069G>T | CA458150307 | ATP6V0A4 | c.1716C>A (p.Ile572=) c.942C>A (p.Ile314=) c.609C>A (p.Ile203=) | |
7 | g.138733070A>C | CA369379458 | ATP6V0A4 | c.1715T>G (p.Ile572Ser) c.941T>G (p.Ile314Ser) c.608T>G (p.Ile203Ser) | |
7 | g.138733070A>G | CA369379459 | ATP6V0A4 | c.1715T>C (p.Ile572Thr) c.941T>C (p.Ile314Thr) c.608T>C (p.Ile203Thr) | |
7 | g.138733070A>T | CA369379460 | ATP6V0A4 | c.1715T>A (p.Ile572Asn) c.941T>A (p.Ile314Asn) c.608T>A (p.Ile203Asn) | |
7 | g.138733071T>A | CA369379461 | ATP6V0A4 | c.1714A>T (p.Ile572Phe) c.940A>T (p.Ile314Phe) c.607A>T (p.Ile203Phe) | |
7 | g.138733071T>C | CA369379462 | ATP6V0A4 | c.1714A>G (p.Ile572Val) c.940A>G (p.Ile314Val) c.607A>G (p.Ile203Val) | |
7 | g.138733071T>G | CA369379463 | ATP6V0A4 | c.1714A>C (p.Ile572Leu) c.940A>C (p.Ile314Leu) c.607A>C (p.Ile203Leu) | |
7 | g.138733072G>A | CA458150309 | ATP6V0A4 | c.1713C>T (p.Asn571=) c.939C>T (p.Asn313=) c.606C>T (p.Asn202=) | gnomAD v4 |
7 | g.138733072G>C | CA369379464 | ATP6V0A4 | c.1713C>G (p.Asn571Lys) c.939C>G (p.Asn313Lys) c.606C>G (p.Asn202Lys) | |
7 | g.138733072G>T | CA369379465 | ATP6V0A4 | c.1713C>A (p.Asn571Lys) c.939C>A (p.Asn313Lys) c.606C>A (p.Asn202Lys) | |
7 | g.138733073T>A | CA369379466 | ATP6V0A4 | c.1712A>T (p.Asn571Ile) c.938A>T (p.Asn313Ile) c.605A>T (p.Asn202Ile) | gnomAD v4 |
7 | g.138733073T>C | CA369379467 | ATP6V0A4 | c.1712A>G (p.Asn571Ser) c.938A>G (p.Asn313Ser) c.605A>G (p.Asn202Ser) | dbSNP gnomAD v4 |
7 | g.138733073T>G | CA369379468 | ATP6V0A4 | c.1712A>C (p.Asn571Thr) c.938A>C (p.Asn313Thr) c.605A>C (p.Asn202Thr) | |
7 | g.138733073T= | CA1746776893 | ATP6V0A4 | c.1712A= (p.Asn571=) c.938A= (p.Asn313=) c.605A= (p.Asn202=) | |
7 | g.138733074T>A | CA369379470 | ATP6V0A4 | c.1711A>T (p.Asn571Tyr) c.937A>T (p.Asn313Tyr) c.604A>T (p.Asn202Tyr) | |
7 | g.138733074T>C | CA167133199 | ATP6V0A4 | c.1711A>G (p.Asn571Asp) c.937A>G (p.Asn313Asp) c.604A>G (p.Asn202Asp) | dbSNP |
7 | g.138733074T>G | CA369379469 | ATP6V0A4 | c.1711A>C (p.Asn571His) c.937A>C (p.Asn313His) c.604A>C (p.Asn202His) | |
7 | g.138733074T= | CA1746776894 | ATP6V0A4 | c.1711A= (p.Asn571=) c.937A= (p.Asn313=) c.604A= (p.Asn202=) | |
7 | g.138733075G>A | CA458150312 | ATP6V0A4 | c.1710C>T (p.Leu570=) c.936C>T (p.Leu312=) c.603C>T (p.Leu201=) | dbSNP |
7 | g.138733075G>C | CA458150313 | ATP6V0A4 | c.1710C>G (p.Leu570=) c.936C>G (p.Leu312=) c.603C>G (p.Leu201=) | |
7 | g.138733075G>T | CA458150314 | ATP6V0A4 | c.1710C>A (p.Leu570=) c.936C>A (p.Leu312=) c.603C>A (p.Leu201=) | |
7 | g.138733076A>C | CA369379471 | ATP6V0A4 | c.1709T>G (p.Leu570Arg) c.935T>G (p.Leu312Arg) c.602T>G (p.Leu201Arg) | |
7 | g.138733076A>G | CA369379472 | ATP6V0A4 | c.1709T>C (p.Leu570Pro) c.935T>C (p.Leu312Pro) c.602T>C (p.Leu201Pro) | |
7 | g.138733076A>T | CA369379473 | ATP6V0A4 | c.1709T>A (p.Leu570His) c.935T>A (p.Leu312His) c.602T>A (p.Leu201His) | |
7 | g.138733077G>A | CA167133204 | ATP6V0A4 | c.1708C>T (p.Leu570Phe) c.934C>T (p.Leu312Phe) c.601C>T (p.Leu201Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733077G>C | CA369379474 | ATP6V0A4 | c.1708C>G (p.Leu570Val) c.934C>G (p.Leu312Val) c.601C>G (p.Leu201Val) | |
7 | g.138733077G= | CA1746776895 | ATP6V0A4 | c.1708C= (p.Leu570=) c.934C= (p.Leu312=) c.601C= (p.Leu201=) | |
7 | g.138733077G>T | CA369379475 | ATP6V0A4 | c.1708C>A (p.Leu570Ile) c.934C>A (p.Leu312Ile) c.601C>A (p.Leu201Ile) | |
7 | g.138733078A= | CA1746776896 | ATP6V0A4 | c.1707T= (p.Thr569=) c.933T= (p.Thr311=) c.600T= (p.Thr200=) | |
7 | g.138733078A>C | CA458150320 | ATP6V0A4 | c.1707T>G (p.Thr569=) c.933T>G (p.Thr311=) c.600T>G (p.Thr200=) | |
7 | g.138733078A>G | CA458150318 | ATP6V0A4 | c.1707T>C (p.Thr569=) c.933T>C (p.Thr311=) c.600T>C (p.Thr200=) | |
7 | g.138733078A>T | CA458150316 | ATP6V0A4 | c.1707T>A (p.Thr569=) c.933T>A (p.Thr311=) c.600T>A (p.Thr200=) | dbSNP |
7 | g.138733079G>A | CA369379476 | ATP6V0A4 | c.1706C>T (p.Thr569Ile) c.932C>T (p.Thr311Ile) c.599C>T (p.Thr200Ile) | |
7 | g.138733079G>C | CA369379477 | ATP6V0A4 | c.1706C>G (p.Thr569Ser) c.932C>G (p.Thr311Ser) c.599C>G (p.Thr200Ser) | |
7 | g.138733079G>T | CA369379478 | ATP6V0A4 | c.1706C>A (p.Thr569Asn) c.932C>A (p.Thr311Asn) c.599C>A (p.Thr200Asn) | |
7 | g.138733080T>A | CA369379479 | ATP6V0A4 | c.1705A>T (p.Thr569Ser) c.931A>T (p.Thr311Ser) c.598A>T (p.Thr200Ser) | |
7 | g.138733080T>C | CA369379480 | ATP6V0A4 | c.1705A>G (p.Thr569Ala) c.931A>G (p.Thr311Ala) c.598A>G (p.Thr200Ala) | |
7 | g.138733080T>G | CA369379481 | ATP6V0A4 | c.1705A>C (p.Thr569Pro) c.931A>C (p.Thr311Pro) c.598A>C (p.Thr200Pro) | |
7 | g.138733081T>A | CA369379483 | ATP6V0A4 | c.1704A>T (p.Arg568Ser) c.930A>T (p.Arg310Ser) c.597A>T (p.Arg199Ser) | gnomAD v4 |
7 | g.138733081T>C | CA458150325 | ATP6V0A4 | c.1704A>G (p.Arg568=) c.930A>G (p.Arg310=) c.597A>G (p.Arg199=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733081T>G | CA369379482 | ATP6V0A4 | c.1704A>C (p.Arg568Ser) c.930A>C (p.Arg310Ser) c.597A>C (p.Arg199Ser) | |
7 | g.138733081T= | CA1746776898 | ATP6V0A4 | c.1704A= (p.Arg568=) c.930A= (p.Arg310=) c.597A= (p.Arg199=) | |
7 | g.138733081_138733082delinsTC | CA1746776897 | ATP6V0A4 | c.1703_1704delinsGA (p.Arg568=) c.929_930delinsGA (p.Arg310=) c.596_597delinsGA (p.Arg199=) | |
7 | g.138733082del | CA834053306 | ATP6V0A4 | c.1703del (p.Arg568LysfsTer13) c.929del (p.Arg310LysfsTer13) c.596del (p.Arg199LysfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138733082C>A | CA4504666 | ATP6V0A4 | c.1703G>T (p.Arg568Ile) c.929G>T (p.Arg310Ile) c.596G>T (p.Arg199Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733082C= | CA1746776899 | ATP6V0A4 | c.1703G= (p.Arg568=) c.929G= (p.Arg310=) c.596G= (p.Arg199=) | |
7 | g.138733082C>G | CA4504665 | ATP6V0A4 | c.1703G>C (p.Arg568Thr) c.929G>C (p.Arg310Thr) c.596G>C (p.Arg199Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733082C>T | CA369379484 | ATP6V0A4 | c.1703G>A (p.Arg568Lys) c.929G>A (p.Arg310Lys) c.596G>A (p.Arg199Lys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138733083T>A | CA369379485 | ATP6V0A4 | c.1702A>T (p.Arg568Ter) c.928A>T (p.Arg310Ter) c.595A>T (p.Arg199Ter) | |
7 | g.138733083T>C | CA167133209 | ATP6V0A4 | c.1702A>G (p.Arg568Gly) c.928A>G (p.Arg310Gly) c.595A>G (p.Arg199Gly) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
7 | g.138733083T>G | CA458150329 | ATP6V0A4 | c.1702A>C (p.Arg568=) c.928A>C (p.Arg310=) c.595A>C (p.Arg199=) | |
7 | g.138733083T= | CA1746776900 | ATP6V0A4 | c.1702A= (p.Arg568=) c.928A= (p.Arg310=) c.595A= (p.Arg199=) | |
7 | g.138733084T>A | CA369379486 | ATP6V0A4 | c.1701A>T (p.Arg567Ser) c.927A>T (p.Arg309Ser) c.594A>T (p.Arg198Ser) | |
7 | g.138733084T>C | CA458150330 | ATP6V0A4 | c.1701A>G (p.Arg567=) c.927A>G (p.Arg309=) c.594A>G (p.Arg198=) | |
7 | g.138733084T>G | CA369379487 | ATP6V0A4 | c.1701A>C (p.Arg567Ser) c.927A>C (p.Arg309Ser) c.594A>C (p.Arg198Ser) | |
7 | g.138733085C>A | CA369379490 | ATP6V0A4 | c.1700G>T (p.Arg567Ile) c.926G>T (p.Arg309Ile) c.593G>T (p.Arg198Ile) | |
7 | g.138733085C>G | CA369379488 | ATP6V0A4 | c.1700G>C (p.Arg567Thr) c.926G>C (p.Arg309Thr) c.593G>C (p.Arg198Thr) | |
7 | g.138733085C>T | CA369379489 | ATP6V0A4 | c.1700G>A (p.Arg567Lys) c.926G>A (p.Arg309Lys) c.593G>A (p.Arg198Lys) | COSMIC |
7 | g.138733086T>A | CA369379491 | ATP6V0A4 | c.1699A>T (p.Arg567Ter) c.925A>T (p.Arg309Ter) c.592A>T (p.Arg198Ter) | |
7 | g.138733086T>C | CA369379492 | ATP6V0A4 | c.1699A>G (p.Arg567Gly) c.925A>G (p.Arg309Gly) c.592A>G (p.Arg198Gly) | gnomAD v4 |
7 | g.138733086T>G | CA458150332 | ATP6V0A4 | c.1699A>C (p.Arg567=) c.925A>C (p.Arg309=) c.592A>C (p.Arg198=) | dbSNP |
7 | g.138733086T= | CA1746776901 | ATP6V0A4 | c.1699A= (p.Arg567=) c.925A= (p.Arg309=) c.592A= (p.Arg198=) | |
7 | g.138733087G>A | CA167133215 | ATP6V0A4 | c.1698C>T (p.Phe566=) c.924C>T (p.Phe308=) c.591C>T (p.Phe197=) | dbSNP COSMIC |
7 | g.138733087G>C | CA369379493 | ATP6V0A4 | c.1698C>G (p.Phe566Leu) c.924C>G (p.Phe308Leu) c.591C>G (p.Phe197Leu) | |
7 | g.138733087G= | CA1746776902 | ATP6V0A4 | c.1698C= (p.Phe566=) c.924C= (p.Phe308=) c.591C= (p.Phe197=) | |
7 | g.138733087G>T | CA369379494 | ATP6V0A4 | c.1698C>A (p.Phe566Leu) c.924C>A (p.Phe308Leu) c.591C>A (p.Phe197Leu) | |
7 | g.138733088A= | CA1746776903 | ATP6V0A4 | c.1697T= (p.Phe566=) c.923T= (p.Phe308=) c.590T= (p.Phe197=) | |
7 | g.138733088A>C | CA369379495 | ATP6V0A4 | c.1697T>G (p.Phe566Cys) c.923T>G (p.Phe308Cys) c.590T>G (p.Phe197Cys) | gnomAD v4 |
7 | g.138733088A>G | CA167133216 | ATP6V0A4 | c.1697T>C (p.Phe566Ser) c.923T>C (p.Phe308Ser) c.590T>C (p.Phe197Ser) | dbSNP gnomAD v4 |
7 | g.138733088A>T | CA369379496 | ATP6V0A4 | c.1697T>A (p.Phe566Tyr) c.923T>A (p.Phe308Tyr) c.590T>A (p.Phe197Tyr) | |
7 | g.138733089A>C | CA369379497 | ATP6V0A4 | c.1696T>G (p.Phe566Val) c.922T>G (p.Phe308Val) c.589T>G (p.Phe197Val) | |
7 | g.138733089A>G | CA369379498 | ATP6V0A4 | c.1696T>C (p.Phe566Leu) c.922T>C (p.Phe308Leu) c.589T>C (p.Phe197Leu) | |
7 | g.138733089A>T | CA369379499 | ATP6V0A4 | c.1696T>A (p.Phe566Ile) c.922T>A (p.Phe308Ile) c.589T>A (p.Phe197Ile) | |
7 | g.138733090G>A | CA458150337 | ATP6V0A4 | c.1695C>T (p.Tyr565=) c.921C>T (p.Tyr307=) c.588C>T (p.Tyr196=) | |
7 | g.138733090G>C | CA369379500 | ATP6V0A4 | c.1695C>G (p.Tyr565Ter) c.921C>G (p.Tyr307Ter) c.588C>G (p.Tyr196Ter) | |
7 | g.138733090G>T | CA369379501 | ATP6V0A4 | c.1695C>A (p.Tyr565Ter) c.921C>A (p.Tyr307Ter) c.588C>A (p.Tyr196Ter) | |
7 | g.138733091T>A | CA369379502 | ATP6V0A4 | c.1694A>T (p.Tyr565Phe) c.920A>T (p.Tyr307Phe) c.587A>T (p.Tyr196Phe) | |
7 | g.138733091T>C | CA369379503 | ATP6V0A4 | c.1694A>G (p.Tyr565Cys) c.920A>G (p.Tyr307Cys) c.587A>G (p.Tyr196Cys) | |
7 | g.138733091T>G | CA369379504 | ATP6V0A4 | c.1694A>C (p.Tyr565Ser) c.920A>C (p.Tyr307Ser) c.587A>C (p.Tyr196Ser) | |
7 | g.138733092A>C | CA369379505 | ATP6V0A4 | c.1693T>G (p.Tyr565Asp) c.919T>G (p.Tyr307Asp) c.586T>G (p.Tyr196Asp) | |
7 | g.138733092A>G | CA369379506 | ATP6V0A4 | c.1693T>C (p.Tyr565His) c.919T>C (p.Tyr307His) c.586T>C (p.Tyr196His) | |
7 | g.138733092A>T | CA369379507 | ATP6V0A4 | c.1693T>A (p.Tyr565Asn) c.919T>A (p.Tyr307Asn) c.586T>A (p.Tyr196Asn) | |
7 | g.138733093T>A | CA458150344 | ATP6V0A4 | c.1692A>T (p.Ile564=) c.918A>T (p.Ile306=) c.585A>T (p.Ile195=) | gnomAD v4 |
7 | g.138733093T>C | CA369379508 | ATP6V0A4 | c.1692A>G (p.Ile564Met) c.918A>G (p.Ile306Met) c.585A>G (p.Ile195Met) | |
7 | g.138733093T>G | CA458150342 | ATP6V0A4 | c.1692A>C (p.Ile564=) c.918A>C (p.Ile306=) c.585A>C (p.Ile195=) | |
7 | g.138733094C>A | CA369379509 | ATP6V0A4 | c.1692-1G>T (n.1692-1G>T) c.918-1G>T (n.918-1G>T) c.585-1G>T (n.585-1G>T) | |
7 | g.138733094C= | CA1746776904 | ATP6V0A4 | c.1692-1G= (n.1692-1G=) c.918-1G= (n.918-1G=) c.585-1G= (n.585-1G=) | |
7 | g.138733094C>G | CA369379511 | ATP6V0A4 | c.1692-1G>C (n.1692-1G>C) c.918-1G>C (n.918-1G>C) c.585-1G>C (n.585-1G>C) | |
7 | g.138733094C>T | CA369379510 | ATP6V0A4 | c.1692-1G>A (n.1692-1G>A) c.918-1G>A (n.918-1G>A) c.585-1G>A (n.585-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733095T>A | CA369379512 | ATP6V0A4 | c.1692-2A>T (n.1692-2A>T) c.918-2A>T (n.918-2A>T) c.585-2A>T (n.585-2A>T) | |
7 | g.138733095T>C | CA369379513 | ATP6V0A4 | c.1692-2A>G (n.1692-2A>G) c.918-2A>G (n.918-2A>G) c.585-2A>G (n.585-2A>G) | |
7 | g.138733095T>G | CA369379514 | ATP6V0A4 | c.1692-2A>C (n.1692-2A>C) c.918-2A>C (n.918-2A>C) c.585-2A>C (n.585-2A>C) | |
7 | g.138733096G>A | CA4504667 | ATP6V0A4 | c.1692-3C>T (n.1692-3C>T) c.918-3C>T (n.918-3C>T) c.585-3C>T (n.585-3C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.138733096G= | CA1746776905 | ATP6V0A4 | c.1692-3C= (n.1692-3C=) c.918-3C= (n.918-3C=) c.585-3C= (n.585-3C=) | |
7 | g.138733097G>A | CA2579035693 | ATP6V0A4 | c.1692-4C>T (n.1692-4C>T) c.918-4C>T (n.918-4C>T) c.585-4C>T (n.585-4C>T) | |
7 | g.138733098G>A | CA1746776907 | ATP6V0A4 | c.1692-5C>T (n.1692-5C>T) c.918-5C>T (n.918-5C>T) c.585-5C>T (n.585-5C>T) | dbSNP gnomAD v4 |
7 | g.138733098G= | CA1746776906 | ATP6V0A4 | c.1692-5C= (n.1692-5C=) c.918-5C= (n.918-5C=) c.585-5C= (n.585-5C=) | |
7 | g.138733098G>T | CA2579035694 | ATP6V0A4 | c.1692-5C>A (n.1692-5C>A) c.918-5C>A (n.918-5C>A) c.585-5C>A (n.585-5C>A) | |
7 | g.138733099G>A | CA2778102840 | ATP6V0A4 | c.1692-6C>T (n.1692-6C>T) c.918-6C>T (n.918-6C>T) c.585-6C>T (n.585-6C>T) | |
7 | g.138733099G>T | CA2778102841 | ATP6V0A4 | c.1692-6C>A (n.1692-6C>A) c.918-6C>A (n.918-6C>A) c.585-6C>A (n.585-6C>A) | |
7 | g.138733100G= | CA1746776908 | ATP6V0A4 | c.1692-7C= (n.1692-7C=) c.918-7C= (n.918-7C=) c.585-7C= (n.585-7C=) | |
7 | g.138733100G>T | CA578621962 | ATP6V0A4 | c.1692-7C>A (n.1692-7C>A) c.918-7C>A (n.918-7C>A) c.585-7C>A (n.585-7C>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733102G>A | CA4504668 | ATP6V0A4 | c.1692-9C>T (n.1692-9C>T) c.918-9C>T (n.918-9C>T) c.585-9C>T (n.585-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733102G= | CA1746776909 | ATP6V0A4 | c.1692-9C= (n.1692-9C=) c.918-9C= (n.918-9C=) c.585-9C= (n.585-9C=) | |
7 | g.138733104A>C | CA2685127696 | ATP6V0A4 | c.1692-11T>G (n.1692-11T>G) c.918-11T>G (n.918-11T>G) c.585-11T>G (n.585-11T>G) | gnomAD v4 |
7 | g.138733106G>T | CA2685127697 | ATP6V0A4 | c.1692-13C>A (n.1692-13C>A) c.918-13C>A (n.918-13C>A) c.585-13C>A (n.585-13C>A) | gnomAD v4 |
7 | g.138733107A= | CA1746776910 | ATP6V0A4 | c.1692-14T= (n.1692-14T=) c.918-14T= (n.918-14T=) c.585-14T= (n.585-14T=) | |
7 | g.138733107A>G | CA578621963 | ATP6V0A4 | c.1692-14T>C (n.1692-14T>C) c.918-14T>C (n.918-14T>C) c.585-14T>C (n.585-14T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733108C= | CA1746776911 | ATP6V0A4 | c.1692-15G= (n.1692-15G=) c.918-15G= (n.918-15G=) c.585-15G= (n.585-15G=) | |
7 | g.138733108C>G | CA4504669 | ATP6V0A4 | c.1692-15G>C (n.1692-15G>C) c.918-15G>C (n.918-15G>C) c.585-15G>C (n.585-15G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733112C= | CA1746776912 | ATP6V0A4 | c.1692-19G= (n.1692-19G=) c.918-19G= (n.918-19G=) c.585-19G= (n.585-19G=) | |
7 | g.138733112C>G | CA2579035695 | ATP6V0A4 | c.1692-19G>C (n.1692-19G>C) c.918-19G>C (n.918-19G>C) c.585-19G>C (n.585-19G>C) | |
7 | g.138733112C>T | CA1746776913 | ATP6V0A4 | c.1692-19G>A (n.1692-19G>A) c.918-19G>A (n.918-19G>A) c.585-19G>A (n.585-19G>A) | dbSNP gnomAD v4 |
7 | g.138733114C>T | CA2579035696 | ATP6V0A4 | c.1692-21G>A (n.1692-21G>A) c.918-21G>A (n.918-21G>A) c.585-21G>A (n.585-21G>A) | gnomAD v4 |
7 | g.138733115A>G | CA2685127698 | ATP6V0A4 | c.1692-22T>C (n.1692-22T>C) c.918-22T>C (n.918-22T>C) c.585-22T>C (n.585-22T>C) | gnomAD v4 |
7 | g.138733116T>C | CA167133237 | ATP6V0A4 | c.1692-23A>G (n.1692-23A>G) c.918-23A>G (n.918-23A>G) c.585-23A>G (n.585-23A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733116T= | CA1746776914 | ATP6V0A4 | c.1692-23A= (n.1692-23A=) c.918-23A= (n.918-23A=) c.585-23A= (n.585-23A=) | |
7 | g.138733118C= | CA1746776915 | ATP6V0A4 | c.1692-25G= (n.1692-25G=) c.918-25G= (n.918-25G=) c.585-25G= (n.585-25G=) | |
7 | g.138733118C>T | CA1746776916 | ATP6V0A4 | c.1692-25G>A (n.1692-25G>A) c.918-25G>A (n.918-25G>A) c.585-25G>A (n.585-25G>A) | dbSNP gnomAD v4 |
7 | g.138733119A= | CA1746776917 | ATP6V0A4 | c.1692-26T= (n.1692-26T=) c.918-26T= (n.918-26T=) c.585-26T= (n.585-26T=) | |
7 | g.138733119A>G | CA4504670 | ATP6V0A4 | c.1692-26T>C (n.1692-26T>C) c.918-26T>C (n.918-26T>C) c.585-26T>C (n.585-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138733123G>A | CA1746776918 | ATP6V0A4 | c.1692-30C>T (n.1692-30C>T) c.918-30C>T (n.918-30C>T) c.585-30C>T (n.585-30C>T) | dbSNP |
7 | g.138733123G= | CA1746776919 | ATP6V0A4 | c.1692-30C= (n.1692-30C=) c.918-30C= (n.918-30C=) c.585-30C= (n.585-30C=) | |
7 | g.138733124A= | CA1746776920 | ATP6V0A4 | c.1692-31T= (n.1692-31T=) c.918-31T= (n.918-31T=) c.585-31T= (n.585-31T=) | |
7 | g.138733124A>C | CA167133252 | ATP6V0A4 | c.1692-31T>G (n.1692-31T>G) c.918-31T>G (n.918-31T>G) c.585-31T>G (n.585-31T>G) | dbSNP |
7 | g.138733125T>C | CA578621964 | ATP6V0A4 | c.1692-32A>G (n.1692-32A>G) c.918-32A>G (n.918-32A>G) c.585-32A>G (n.585-32A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733125T= | CA1746776921 | ATP6V0A4 | c.1692-32A= (n.1692-32A=) c.918-32A= (n.918-32A=) c.585-32A= (n.585-32A=) | |
7 | g.138733126_138733129dup | CA2685127699 | ATP6V0A4 | c.1692-36_1692-33dup (n.1692-36_1692-33dup) c.918-36_918-33dup (n.918-36_918-33dup) c.585-36_585-33dup (n.585-36_585-33dup) | gnomAD v4 |
7 | g.138733127G>A | CA2685127700 | ATP6V0A4 | c.1692-34C>T (n.1692-34C>T) c.918-34C>T (n.918-34C>T) c.585-34C>T (n.585-34C>T) | gnomAD v4 |
7 | g.138733127G>C | CA167133254 | ATP6V0A4 | c.1692-34C>G (n.1692-34C>G) c.918-34C>G (n.918-34C>G) c.585-34C>G (n.585-34C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733127G= | CA1746776922 | ATP6V0A4 | c.1692-34C= (n.1692-34C=) c.918-34C= (n.918-34C=) c.585-34C= (n.585-34C=) | |
7 | g.138733127G>T | CA2579035697 | ATP6V0A4 | c.1692-34C>A (n.1692-34C>A) c.918-34C>A (n.918-34C>A) c.585-34C>A (n.585-34C>A) | |
7 | g.138733130C= | CA1746776923 | ATP6V0A4 | c.1692-37G= (n.1692-37G=) c.918-37G= (n.918-37G=) c.585-37G= (n.585-37G=) | |
7 | g.138733130C>T | CA167133260 | ATP6V0A4 | c.1692-37G>A (n.1692-37G>A) c.918-37G>A (n.918-37G>A) c.585-37G>A (n.585-37G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733133C>A | CA2579035698 | ATP6V0A4 | c.1692-40G>T (n.1692-40G>T) c.918-40G>T (n.918-40G>T) c.585-40G>T (n.585-40G>T) | gnomAD v4 |
7 | g.138733133C= | CA1746776924 | ATP6V0A4 | c.1692-40G= (n.1692-40G=) c.918-40G= (n.918-40G=) c.585-40G= (n.585-40G=) | |
7 | g.138733133C>T | CA578621965 | ATP6V0A4 | c.1692-40G>A (n.1692-40G>A) c.918-40G>A (n.918-40G>A) c.585-40G>A (n.585-40G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733135A= | CA1746776925 | ATP6V0A4 | c.1692-42T= (n.1692-42T=) c.918-42T= (n.918-42T=) c.585-42T= (n.585-42T=) | |
7 | g.138733135A>C | CA834053361 | ATP6V0A4 | c.1692-42T>G (n.1692-42T>G) c.918-42T>G (n.918-42T>G) c.585-42T>G (n.585-42T>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138733136G>C | CA578621966 | ATP6V0A4 | c.1692-43C>G (n.1692-43C>G) c.918-43C>G (n.918-43C>G) c.585-43C>G (n.585-43C>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733136G= | CA1746776926 | ATP6V0A4 | c.1692-43C= (n.1692-43C=) c.918-43C= (n.918-43C=) c.585-43C= (n.585-43C=) | |
7 | g.138733136G>T | CA2685127701 | ATP6V0A4 | c.1692-43C>A (n.1692-43C>A) c.918-43C>A (n.918-43C>A) c.585-43C>A (n.585-43C>A) | gnomAD v4 |
7 | g.138733138G>A | CA1746776928 | ATP6V0A4 | c.1692-45C>T (n.1692-45C>T) c.918-45C>T (n.918-45C>T) c.585-45C>T (n.585-45C>T) | dbSNP |
7 | g.138733138G= | CA1746776927 | ATP6V0A4 | c.1692-45C= (n.1692-45C=) c.918-45C= (n.918-45C=) c.585-45C= (n.585-45C=) | |
7 | g.138733140A= | CA1746776929 | ATP6V0A4 | c.1692-47T= (n.1692-47T=) c.918-47T= (n.918-47T=) c.585-47T= (n.585-47T=) | |
7 | g.138733140A>G | CA578621967 | ATP6V0A4 | c.1692-47T>C (n.1692-47T>C) c.918-47T>C (n.918-47T>C) c.585-47T>C (n.585-47T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138733141C>A | CA2685127702 | ATP6V0A4 | c.1692-48G>T (n.1692-48G>T) c.918-48G>T (n.918-48G>T) c.585-48G>T (n.585-48G>T) | gnomAD v4 |
7 | g.138733141C= | CA1746776930 | ATP6V0A4 | c.1692-48G= (n.1692-48G=) c.918-48G= (n.918-48G=) c.585-48G= (n.585-48G=) | |
7 | g.138733141C>G | CA2715633735 | ATP6V0A4 | c.1692-48G>C (n.1692-48G>C) c.918-48G>C (n.918-48G>C) c.585-48G>C (n.585-48G>C) | dbSNP |
7 | g.138733141C>T | CA4504671 | ATP6V0A4 | c.1692-48G>A (n.1692-48G>A) c.918-48G>A (n.918-48G>A) c.585-48G>A (n.585-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733142G>A | CA4504672 | ATP6V0A4 | c.1692-49C>T (n.1692-49C>T) c.918-49C>T (n.918-49C>T) c.585-49C>T (n.585-49C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733142G>C | CA2580753874 | ATP6V0A4 | c.1692-49C>G (n.1692-49C>G) c.918-49C>G (n.918-49C>G) c.585-49C>G (n.585-49C>G) | gnomAD v4 |
7 | g.138733142G= | CA1746776931 | ATP6V0A4 | c.1692-49C= (n.1692-49C=) c.918-49C= (n.918-49C=) c.585-49C= (n.585-49C=) | |
7 | g.138733142G>T | CA2580753873 | ATP6V0A4 | c.1692-49C>A (n.1692-49C>A) c.918-49C>A (n.918-49C>A) c.585-49C>A (n.585-49C>A) | gnomAD v4 |
7 | g.138733143T>G | CA2685127703 | ATP6V0A4 | c.1692-50A>C (n.1692-50A>C) c.918-50A>C (n.918-50A>C) c.585-50A>C (n.585-50A>C) | gnomAD v4 |