Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138732913G>A | CA458150200 | ATP6V0A4 | c.1872C>T (p.Tyr624=) c.1098C>T (p.Tyr366=) c.765C>T (p.Tyr255=) | dbSNP |
7 | g.138732913G>C | CA369378769 | ATP6V0A4 | c.1872C>G (p.Tyr624Ter) c.1098C>G (p.Tyr366Ter) c.765C>G (p.Tyr255Ter) | |
7 | g.138732913G= | CA1746776836 | ATP6V0A4 | c.1872C= (p.Tyr624=) c.1098C= (p.Tyr366=) c.765C= (p.Tyr255=) | |
7 | g.138732913G>T | CA369378771 | ATP6V0A4 | c.1872C>A (p.Tyr624Ter) c.1098C>A (p.Tyr366Ter) c.765C>A (p.Tyr255Ter) | ClinVar dbSNP |
7 | g.138732914T>A | CA369378775 | ATP6V0A4 | c.1871A>T (p.Tyr624Phe) c.1097A>T (p.Tyr366Phe) c.764A>T (p.Tyr255Phe) | |
7 | g.138732914T>C | CA369378774 | ATP6V0A4 | c.1871A>G (p.Tyr624Cys) c.1097A>G (p.Tyr366Cys) c.764A>G (p.Tyr255Cys) | |
7 | g.138732914T>G | CA369378773 | ATP6V0A4 | c.1871A>C (p.Tyr624Ser) c.1097A>C (p.Tyr366Ser) c.764A>C (p.Tyr255Ser) | |
7 | g.138732915A>C | CA369378779 | ATP6V0A4 | c.1870T>G (p.Tyr624Asp) c.1096T>G (p.Tyr366Asp) c.763T>G (p.Tyr255Asp) | |
7 | g.138732915A>G | CA369378780 | ATP6V0A4 | c.1870T>C (p.Tyr624His) c.1096T>C (p.Tyr366His) c.763T>C (p.Tyr255His) | |
7 | g.138732915A>T | CA369378781 | ATP6V0A4 | c.1870T>A (p.Tyr624Asn) c.1096T>A (p.Tyr366Asn) c.763T>A (p.Tyr255Asn) | |
7 | g.138732916G>A | CA458150201 | ATP6V0A4 | c.1869C>T (p.Asn623=) c.1095C>T (p.Asn365=) c.762C>T (p.Asn254=) | |
7 | g.138732916G>C | CA369378782 | ATP6V0A4 | c.1869C>G (p.Asn623Lys) c.1095C>G (p.Asn365Lys) c.762C>G (p.Asn254Lys) | |
7 | g.138732916G>T | CA369378783 | ATP6V0A4 | c.1869C>A (p.Asn623Lys) c.1095C>A (p.Asn365Lys) c.762C>A (p.Asn254Lys) | |
7 | g.138732917T>A | CA369378784 | ATP6V0A4 | c.1868A>T (p.Asn623Ile) c.1094A>T (p.Asn365Ile) c.761A>T (p.Asn254Ile) | |
7 | g.138732917T>C | CA369378785 | ATP6V0A4 | c.1868A>G (p.Asn623Ser) c.1094A>G (p.Asn365Ser) c.761A>G (p.Asn254Ser) | |
7 | g.138732917T>G | CA369378786 | ATP6V0A4 | c.1868A>C (p.Asn623Thr) c.1094A>C (p.Asn365Thr) c.761A>C (p.Asn254Thr) | |
7 | g.138732918T>A | CA369378787 | ATP6V0A4 | c.1867A>T (p.Asn623Tyr) c.1093A>T (p.Asn365Tyr) c.760A>T (p.Asn254Tyr) | |
7 | g.138732918T>C | CA369378788 | ATP6V0A4 | c.1867A>G (p.Asn623Asp) c.1093A>G (p.Asn365Asp) c.760A>G (p.Asn254Asp) | gnomAD v4 |
7 | g.138732918T>G | CA369378790 | ATP6V0A4 | c.1867A>C (p.Asn623His) c.1093A>C (p.Asn365His) c.760A>C (p.Asn254His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138732918T= | CA1746776837 | ATP6V0A4 | c.1867A= (p.Asn623=) c.1093A= (p.Asn365=) c.760A= (p.Asn254=) | |
7 | g.138732919A>C | CA369378792 | ATP6V0A4 | c.1866T>G (p.Phe622Leu) c.1092T>G (p.Phe364Leu) c.759T>G (p.Phe253Leu) | |
7 | g.138732919A>G | CA458150202 | ATP6V0A4 | c.1866T>C (p.Phe622=) c.1092T>C (p.Phe364=) c.759T>C (p.Phe253=) | |
7 | g.138732919A>T | CA369378795 | ATP6V0A4 | c.1866T>A (p.Phe622Leu) c.1092T>A (p.Phe364Leu) c.759T>A (p.Phe253Leu) | |
7 | g.138732920A>C | CA369378804 | ATP6V0A4 | c.1865T>G (p.Phe622Cys) c.1091T>G (p.Phe364Cys) c.758T>G (p.Phe253Cys) | |
7 | g.138732920A>G | CA369378798 | ATP6V0A4 | c.1865T>C (p.Phe622Ser) c.1091T>C (p.Phe364Ser) c.758T>C (p.Phe253Ser) | |
7 | g.138732920A>T | CA369378800 | ATP6V0A4 | c.1865T>A (p.Phe622Tyr) c.1091T>A (p.Phe364Tyr) c.758T>A (p.Phe253Tyr) | gnomAD v4 |
7 | g.138732921A>C | CA369378806 | ATP6V0A4 | c.1864T>G (p.Phe622Val) c.1090T>G (p.Phe364Val) c.757T>G (p.Phe253Val) | |
7 | g.138732921A>G | CA369378807 | ATP6V0A4 | c.1864T>C (p.Phe622Leu) c.1090T>C (p.Phe364Leu) c.757T>C (p.Phe253Leu) | |
7 | g.138732921A>T | CA369378810 | ATP6V0A4 | c.1864T>A (p.Phe622Ile) c.1090T>A (p.Phe364Ile) c.757T>A (p.Phe253Ile) | gnomAD v4 |
7 | g.138732922C>A | CA458150203 | ATP6V0A4 | c.1863G>T (p.Leu621=) c.1089G>T (p.Leu363=) c.756G>T (p.Leu252=) | |
7 | g.138732922C>G | CA458150204 | ATP6V0A4 | c.1863G>C (p.Leu621=) c.1089G>C (p.Leu363=) c.756G>C (p.Leu252=) | |
7 | g.138732922C>T | CA458150205 | ATP6V0A4 | c.1863G>A (p.Leu621=) c.1089G>A (p.Leu363=) c.756G>A (p.Leu252=) | |
7 | g.138732923A>C | CA369378812 | ATP6V0A4 | c.1862T>G (p.Leu621Arg) c.1088T>G (p.Leu363Arg) c.755T>G (p.Leu252Arg) | |
7 | g.138732923A>G | CA369378814 | ATP6V0A4 | c.1862T>C (p.Leu621Pro) c.1088T>C (p.Leu363Pro) c.755T>C (p.Leu252Pro) | |
7 | g.138732923A>T | CA369378817 | ATP6V0A4 | c.1862T>A (p.Leu621Gln) c.1088T>A (p.Leu363Gln) c.755T>A (p.Leu252Gln) | |
7 | g.138732924G>A | CA4504635 | ATP6V0A4 | c.1861C>T (p.Leu621=) c.1087C>T (p.Leu363=) c.754C>T (p.Leu252=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732924G>C | CA369378821 | ATP6V0A4 | c.1861C>G (p.Leu621Val) c.1087C>G (p.Leu363Val) c.754C>G (p.Leu252Val) | |
7 | g.138732924G= | CA1746776838 | ATP6V0A4 | c.1861C= (p.Leu621=) c.1087C= (p.Leu363=) c.754C= (p.Leu252=) | |
7 | g.138732924G>T | CA369378824 | ATP6V0A4 | c.1861C>A (p.Leu621Met) c.1087C>A (p.Leu363Met) c.754C>A (p.Leu252Met) | |
7 | g.138732925A>C | CA369378826 | ATP6V0A4 | c.1860T>G (p.Phe620Leu) c.1086T>G (p.Phe362Leu) c.753T>G (p.Phe251Leu) | |
7 | g.138732925A>G | CA458150206 | ATP6V0A4 | c.1860T>C (p.Phe620=) c.1086T>C (p.Phe362=) c.753T>C (p.Phe251=) | |
7 | g.138732925A>T | CA369378828 | ATP6V0A4 | c.1860T>A (p.Phe620Leu) c.1086T>A (p.Phe362Leu) c.753T>A (p.Phe251Leu) | |
7 | g.138732926A>C | CA369378841 | ATP6V0A4 | c.1859T>G (p.Phe620Cys) c.1085T>G (p.Phe362Cys) c.752T>G (p.Phe251Cys) | |
7 | g.138732926A>G | CA369378834 | ATP6V0A4 | c.1859T>C (p.Phe620Ser) c.1085T>C (p.Phe362Ser) c.752T>C (p.Phe251Ser) | |
7 | g.138732926A>T | CA369378831 | ATP6V0A4 | c.1859T>A (p.Phe620Tyr) c.1085T>A (p.Phe362Tyr) c.752T>A (p.Phe251Tyr) | |
7 | g.138732927A>C | CA369378844 | ATP6V0A4 | c.1858T>G (p.Phe620Val) c.1084T>G (p.Phe362Val) c.751T>G (p.Phe251Val) | gnomAD v4 |
7 | g.138732927A>G | CA369378849 | ATP6V0A4 | c.1858T>C (p.Phe620Leu) c.1084T>C (p.Phe362Leu) c.751T>C (p.Phe251Leu) | |
7 | g.138732927A>T | CA369378847 | ATP6V0A4 | c.1858T>A (p.Phe620Ile) c.1084T>A (p.Phe362Ile) c.751T>A (p.Phe251Ile) | |
7 | g.138732928C>A | CA369378853 | ATP6V0A4 | c.1857G>T (p.Met619Ile) c.1083G>T (p.Met361Ile) c.750G>T (p.Met250Ile) | |
7 | g.138732928C>G | CA369378855 | ATP6V0A4 | c.1857G>C (p.Met619Ile) c.1083G>C (p.Met361Ile) c.750G>C (p.Met250Ile) | |
7 | g.138732928C>T | CA369378857 | ATP6V0A4 | c.1857G>A (p.Met619Ile) c.1083G>A (p.Met361Ile) c.750G>A (p.Met250Ile) | ClinVar gnomAD v4 |
7 | g.138732929A= | CA1746776839 | ATP6V0A4 | c.1856T= (p.Met619=) c.1082T= (p.Met361=) c.749T= (p.Met250=) | |
7 | g.138732929A>C | CA369378860 | ATP6V0A4 | c.1856T>G (p.Met619Arg) c.1082T>G (p.Met361Arg) c.749T>G (p.Met250Arg) | |
7 | g.138732929A>G | CA4504636 | ATP6V0A4 | c.1856T>C (p.Met619Thr) c.1082T>C (p.Met361Thr) c.749T>C (p.Met250Thr) | dbSNP ExAC gnomAD v2 |
7 | g.138732929A>T | CA369378861 | ATP6V0A4 | c.1856T>A (p.Met619Lys) c.1082T>A (p.Met361Lys) c.749T>A (p.Met250Lys) | |
7 | g.138732930T>A | CA369378862 | ATP6V0A4 | c.1855A>T (p.Met619Leu) c.1081A>T (p.Met361Leu) c.748A>T (p.Met250Leu) | |
7 | g.138732930T>C | CA369378863 | ATP6V0A4 | c.1855A>G (p.Met619Val) c.1081A>G (p.Met361Val) c.748A>G (p.Met250Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732930T>G | CA369378864 | ATP6V0A4 | c.1855A>C (p.Met619Leu) c.1081A>C (p.Met361Leu) c.748A>C (p.Met250Leu) | |
7 | g.138732930T= | CA1746776840 | ATP6V0A4 | c.1855A= (p.Met619=) c.1081A= (p.Met361=) c.748A= (p.Met250=) | |
7 | g.138732931G>A | CA4504637 | ATP6V0A4 | c.1854C>T (p.Asn618=) c.1080C>T (p.Asn360=) c.747C>T (p.Asn249=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732931G>C | CA369378866 | ATP6V0A4 | c.1854C>G (p.Asn618Lys) c.1080C>G (p.Asn360Lys) c.747C>G (p.Asn249Lys) | |
7 | g.138732931G= | CA1746776841 | ATP6V0A4 | c.1854C= (p.Asn618=) c.1080C= (p.Asn360=) c.747C= (p.Asn249=) | |
7 | g.138732931G>T | CA369378870 | ATP6V0A4 | c.1854C>A (p.Asn618Lys) c.1080C>A (p.Asn360Lys) c.747C>A (p.Asn249Lys) | |
7 | g.138732932T>A | CA369378873 | ATP6V0A4 | c.1853A>T (p.Asn618Ile) c.1079A>T (p.Asn360Ile) c.746A>T (p.Asn249Ile) | |
7 | g.138732932T>C | CA369378878 | ATP6V0A4 | c.1853A>G (p.Asn618Ser) c.1079A>G (p.Asn360Ser) c.746A>G (p.Asn249Ser) | |
7 | g.138732932T>G | CA369378875 | ATP6V0A4 | c.1853A>C (p.Asn618Thr) c.1079A>C (p.Asn360Thr) c.746A>C (p.Asn249Thr) | gnomAD v4 |
7 | g.138732933T>A | CA369378881 | ATP6V0A4 | c.1852A>T (p.Asn618Tyr) c.1078A>T (p.Asn360Tyr) c.745A>T (p.Asn249Tyr) | |
7 | g.138732933T>C | CA369378883 | ATP6V0A4 | c.1852A>G (p.Asn618Asp) c.1078A>G (p.Asn360Asp) c.745A>G (p.Asn249Asp) | |
7 | g.138732933T>G | CA369378887 | ATP6V0A4 | c.1852A>C (p.Asn618His) c.1078A>C (p.Asn360His) c.745A>C (p.Asn249His) | |
7 | g.138732934G>A | CA458150207 | ATP6V0A4 | c.1851C>T (p.Ile617=) c.1077C>T (p.Ile359=) c.744C>T (p.Ile248=) | |
7 | g.138732934G>C | CA369378890 | ATP6V0A4 | c.1851C>G (p.Ile617Met) c.1077C>G (p.Ile359Met) c.744C>G (p.Ile248Met) | |
7 | g.138732934G>T | CA458150208 | ATP6V0A4 | c.1851C>A (p.Ile617=) c.1077C>A (p.Ile359=) c.744C>A (p.Ile248=) | |
7 | g.138732935A>C | CA369378894 | ATP6V0A4 | c.1850T>G (p.Ile617Ser) c.1076T>G (p.Ile359Ser) c.743T>G (p.Ile248Ser) | |
7 | g.138732935A>G | CA369378896 | ATP6V0A4 | c.1850T>C (p.Ile617Thr) c.1076T>C (p.Ile359Thr) c.743T>C (p.Ile248Thr) | |
7 | g.138732935A>T | CA369378897 | ATP6V0A4 | c.1850T>A (p.Ile617Asn) c.1076T>A (p.Ile359Asn) c.743T>A (p.Ile248Asn) | |
7 | g.138732936T>A | CA369378900 | ATP6V0A4 | c.1849A>T (p.Ile617Phe) c.1075A>T (p.Ile359Phe) c.742A>T (p.Ile248Phe) | |
7 | g.138732936T>C | CA4504638 | ATP6V0A4 | c.1849A>G (p.Ile617Val) c.1075A>G (p.Ile359Val) c.742A>G (p.Ile248Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732936T>G | CA369378906 | ATP6V0A4 | c.1849A>C (p.Ile617Leu) c.1075A>C (p.Ile359Leu) c.742A>C (p.Ile248Leu) | |
7 | g.138732936T= | CA1746776842 | ATP6V0A4 | c.1849A= (p.Ile617=) c.1075A= (p.Ile359=) c.742A= (p.Ile248=) | |
7 | g.138732937G>A | CA4504639 | ATP6V0A4 | c.1848C>T (p.Phe616=) c.1074C>T (p.Phe358=) c.741C>T (p.Phe247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732937G>C | CA369378915 | ATP6V0A4 | c.1848C>G (p.Phe616Leu) c.1074C>G (p.Phe358Leu) c.741C>G (p.Phe247Leu) | |
7 | g.138732937G= | CA1746776843 | ATP6V0A4 | c.1848C= (p.Phe616=) c.1074C= (p.Phe358=) c.741C= (p.Phe247=) | |
7 | g.138732937G>T | CA369378912 | ATP6V0A4 | c.1848C>A (p.Phe616Leu) c.1074C>A (p.Phe358Leu) c.741C>A (p.Phe247Leu) | |
7 | g.138732938A>C | CA369378920 | ATP6V0A4 | c.1847T>G (p.Phe616Cys) c.1073T>G (p.Phe358Cys) c.740T>G (p.Phe247Cys) | |
7 | g.138732938A>G | CA369378921 | ATP6V0A4 | c.1847T>C (p.Phe616Ser) c.1073T>C (p.Phe358Ser) c.740T>C (p.Phe247Ser) | |
7 | g.138732938A>T | CA369378923 | ATP6V0A4 | c.1847T>A (p.Phe616Tyr) c.1073T>A (p.Phe358Tyr) c.740T>A (p.Phe247Tyr) | |
7 | g.138732939A>C | CA369378926 | ATP6V0A4 | c.1846T>G (p.Phe616Val) c.1072T>G (p.Phe358Val) c.739T>G (p.Phe247Val) | gnomAD v4 |
7 | g.138732939A>G | CA369378927 | ATP6V0A4 | c.1846T>C (p.Phe616Leu) c.1072T>C (p.Phe358Leu) c.739T>C (p.Phe247Leu) | gnomAD v4 |
7 | g.138732939A>T | CA369378930 | ATP6V0A4 | c.1846T>A (p.Phe616Ile) c.1072T>A (p.Phe358Ile) c.739T>A (p.Phe247Ile) | |
7 | g.138732940G>A | CA458150209 | ATP6V0A4 | c.1845C>T (p.His615=) c.1071C>T (p.His357=) c.738C>T (p.His246=) | |
7 | g.138732940G>C | CA369378933 | ATP6V0A4 | c.1845C>G (p.His615Gln) c.1071C>G (p.His357Gln) c.738C>G (p.His246Gln) | |
7 | g.138732940G>T | CA369378935 | ATP6V0A4 | c.1845C>A (p.His615Gln) c.1071C>A (p.His357Gln) c.738C>A (p.His246Gln) | |
7 | g.138732941T>A | CA369378938 | ATP6V0A4 | c.1844A>T (p.His615Leu) c.1070A>T (p.His357Leu) c.737A>T (p.His246Leu) | |
7 | g.138732941T>C | CA167133047 | ATP6V0A4 | c.1844A>G (p.His615Arg) c.1070A>G (p.His357Arg) c.737A>G (p.His246Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732941T>G | CA369378941 | ATP6V0A4 | c.1844A>C (p.His615Pro) c.1070A>C (p.His357Pro) c.737A>C (p.His246Pro) | COSMIC |
7 | g.138732941T= | CA1746776844 | ATP6V0A4 | c.1844A= (p.His615=) c.1070A= (p.His357=) c.737A= (p.His246=) | |
7 | g.138732942G>A | CA4504640 | ATP6V0A4 | c.1843C>T (p.His615Tyr) c.1069C>T (p.His357Tyr) c.736C>T (p.His246Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.138732942G>C | CA369378945 | ATP6V0A4 | c.1843C>G (p.His615Asp) c.1069C>G (p.His357Asp) c.736C>G (p.His246Asp) | |
7 | g.138732942G= | CA1746776845 | ATP6V0A4 | c.1843C= (p.His615=) c.1069C= (p.His357=) c.736C= (p.His246=) | |
7 | g.138732942G>T | CA369378947 | ATP6V0A4 | c.1843C>A (p.His615Asn) c.1069C>A (p.His357Asn) c.736C>A (p.His246Asn) | |
7 | g.138732943G>A | CA458150210 | ATP6V0A4 | c.1842C>T (p.Ile614=) c.1068C>T (p.Ile356=) c.735C>T (p.Ile245=) | |
7 | g.138732943G>C | CA369378949 | ATP6V0A4 | c.1842C>G (p.Ile614Met) c.1068C>G (p.Ile356Met) c.735C>G (p.Ile245Met) | |
7 | g.138732943G>T | CA458150211 | ATP6V0A4 | c.1842C>A (p.Ile614=) c.1068C>A (p.Ile356=) c.735C>A (p.Ile245=) | gnomAD v4 |
7 | g.138732944A>C | CA369378953 | ATP6V0A4 | c.1841T>G (p.Ile614Ser) c.1067T>G (p.Ile356Ser) c.734T>G (p.Ile245Ser) | |
7 | g.138732944A>G | CA369378955 | ATP6V0A4 | c.1841T>C (p.Ile614Thr) c.1067T>C (p.Ile356Thr) c.734T>C (p.Ile245Thr) | |
7 | g.138732944A>T | CA369378957 | ATP6V0A4 | c.1841T>A (p.Ile614Asn) c.1067T>A (p.Ile356Asn) c.734T>A (p.Ile245Asn) | |
7 | g.138732945T>A | CA369378959 | ATP6V0A4 | c.1840A>T (p.Ile614Phe) c.1066A>T (p.Ile356Phe) c.733A>T (p.Ile245Phe) | |
7 | g.138732945T>C | CA369378962 | ATP6V0A4 | c.1840A>G (p.Ile614Val) c.1066A>G (p.Ile356Val) c.733A>G (p.Ile245Val) | |
7 | g.138732945T>G | CA4504641 | ATP6V0A4 | c.1840A>C (p.Ile614Leu) c.1066A>C (p.Ile356Leu) c.733A>C (p.Ile245Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732945T= | CA1746776846 | ATP6V0A4 | c.1840A= (p.Ile614=) c.1066A= (p.Ile356=) c.733A= (p.Ile245=) | |
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 |
7 | g.138732960C= | CA1746776852 | ATP6V0A4 | c.1825G= (p.Ala609=) c.1051G= (p.Ala351=) c.718G= (p.Ala240=) | |
7 | g.138732960C>G | CA369379048 | ATP6V0A4 | c.1825G>C (p.Ala609Pro) c.1051G>C (p.Ala351Pro) c.718G>C (p.Ala240Pro) | |
7 | g.138732960C>T | CA4504644 | ATP6V0A4 | c.1825G>A (p.Ala609Thr) c.1051G>A (p.Ala351Thr) c.718G>A (p.Ala240Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732961G>A | CA4504645 | ATP6V0A4 | c.1824C>T (p.His608=) c.1050C>T (p.His350=) c.717C>T (p.His239=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732961G>C | CA369379054 | ATP6V0A4 | c.1824C>G (p.His608Gln) c.1050C>G (p.His350Gln) c.717C>G (p.His239Gln) | |
7 | g.138732961G= | CA1746776853 | ATP6V0A4 | c.1824C= (p.His608=) c.1050C= (p.His350=) c.717C= (p.His239=) | |
7 | g.138732961G>T | CA369379055 | ATP6V0A4 | c.1824C>A (p.His608Gln) c.1050C>A (p.His350Gln) c.717C>A (p.His239Gln) | |
7 | g.138732962T>A | CA369379059 | ATP6V0A4 | c.1823A>T (p.His608Leu) c.1049A>T (p.His350Leu) c.716A>T (p.His239Leu) | |
7 | g.138732962T>C | CA369379061 | ATP6V0A4 | c.1823A>G (p.His608Arg) c.1049A>G (p.His350Arg) c.716A>G (p.His239Arg) | |
7 | g.138732962T>G | CA369379066 | ATP6V0A4 | c.1823A>C (p.His608Pro) c.1049A>C (p.His350Pro) c.716A>C (p.His239Pro) | |
7 | g.138732963G>A | CA369379069 | ATP6V0A4 | c.1822C>T (p.His608Tyr) c.1048C>T (p.His350Tyr) c.715C>T (p.His239Tyr) | |
7 | g.138732963G>C | CA369379071 | ATP6V0A4 | c.1822C>G (p.His608Asp) c.1048C>G (p.His350Asp) c.715C>G (p.His239Asp) | |
7 | g.138732963G>T | CA369379068 | ATP6V0A4 | c.1822C>A (p.His608Asn) c.1048C>A (p.His350Asn) c.715C>A (p.His239Asn) | |
7 | g.138732964C>A | CA369379074 | ATP6V0A4 | c.1821G>T (p.Gln607His) c.1047G>T (p.Gln349His) c.714G>T (p.Gln238His) | |
7 | g.138732964C>G | CA369379077 | ATP6V0A4 | c.1821G>C (p.Gln607His) c.1047G>C (p.Gln349His) c.714G>C (p.Gln238His) | |
7 | g.138732964C>T | CA458150223 | ATP6V0A4 | c.1821G>A (p.Gln607=) c.1047G>A (p.Gln349=) c.714G>A (p.Gln238=) | |
7 | g.138732965T>A | CA369379080 | ATP6V0A4 | c.1820A>T (p.Gln607Leu) c.1046A>T (p.Gln349Leu) c.713A>T (p.Gln238Leu) | |
7 | g.138732965T>C | CA369379083 | ATP6V0A4 | c.1820A>G (p.Gln607Arg) c.1046A>G (p.Gln349Arg) c.713A>G (p.Gln238Arg) | |
7 | g.138732965T>G | CA369379085 | ATP6V0A4 | c.1820A>C (p.Gln607Pro) c.1046A>C (p.Gln349Pro) c.713A>C (p.Gln238Pro) | |
7 | g.138732966G>A | CA369379092 | ATP6V0A4 | c.1819C>T (p.Gln607Ter) c.1045C>T (p.Gln349Ter) c.712C>T (p.Gln238Ter) | |
7 | g.138732966G>C | CA369379090 | ATP6V0A4 | c.1819C>G (p.Gln607Glu) c.1045C>G (p.Gln349Glu) c.712C>G (p.Gln238Glu) | |
7 | g.138732966G>T | CA369379088 | ATP6V0A4 | c.1819C>A (p.Gln607Lys) c.1045C>A (p.Gln349Lys) c.712C>A (p.Gln238Lys) | |
7 | g.138732967A>C | CA458150224 | ATP6V0A4 | c.1818T>G (p.Ser606=) c.1044T>G (p.Ser348=) c.711T>G (p.Ser237=) | |
7 | g.138732967A>G | CA458150225 | ATP6V0A4 | c.1818T>C (p.Ser606=) c.1044T>C (p.Ser348=) c.711T>C (p.Ser237=) | |
7 | g.138732967A>T | CA458150226 | ATP6V0A4 | c.1818T>A (p.Ser606=) c.1044T>A (p.Ser348=) c.711T>A (p.Ser237=) | |
7 | g.138732968G>A | CA369379095 | ATP6V0A4 | c.1817C>T (p.Ser606Phe) c.1043C>T (p.Ser348Phe) c.710C>T (p.Ser237Phe) | |
7 | g.138732968G>C | CA369379097 | ATP6V0A4 | c.1817C>G (p.Ser606Cys) c.1043C>G (p.Ser348Cys) c.710C>G (p.Ser237Cys) | |
7 | g.138732968G>T | CA369379098 | ATP6V0A4 | c.1817C>A (p.Ser606Tyr) c.1043C>A (p.Ser348Tyr) c.710C>A (p.Ser237Tyr) | |
7 | g.138732969A>C | CA369379101 | ATP6V0A4 | c.1816T>G (p.Ser606Ala) c.1042T>G (p.Ser348Ala) c.709T>G (p.Ser237Ala) | |
7 | g.138732969A>G | CA369379103 | ATP6V0A4 | c.1816T>C (p.Ser606Pro) c.1042T>C (p.Ser348Pro) c.709T>C (p.Ser237Pro) | |
7 | g.138732969A>T | CA369379106 | ATP6V0A4 | c.1816T>A (p.Ser606Thr) c.1042T>A (p.Ser348Thr) c.709T>A (p.Ser237Thr) | |
7 | g.138732970T>A | CA458150227 | ATP6V0A4 | c.1815A>T (p.Val605=) c.1041A>T (p.Val347=) c.708A>T (p.Val236=) | gnomAD v4 |
7 | g.138732970T>C | CA458150228 | ATP6V0A4 | c.1815A>G (p.Val605=) c.1041A>G (p.Val347=) c.708A>G (p.Val236=) | dbSNP gnomAD v2 |
7 | g.138732970T>G | CA458150229 | ATP6V0A4 | c.1815A>C (p.Val605=) c.1041A>C (p.Val347=) c.708A>C (p.Val236=) | |
7 | g.138732970T= | CA1746776854 | ATP6V0A4 | c.1815A= (p.Val605=) c.1041A= (p.Val347=) c.708A= (p.Val236=) | |
7 | g.138732971A>C | CA369379110 | ATP6V0A4 | c.1814T>G (p.Val605Gly) c.1040T>G (p.Val347Gly) c.707T>G (p.Val236Gly) | |
7 | g.138732971A>G | CA369379116 | ATP6V0A4 | c.1814T>C (p.Val605Ala) c.1040T>C (p.Val347Ala) c.707T>C (p.Val236Ala) | |
7 | g.138732971A>T | CA369379113 | ATP6V0A4 | c.1814T>A (p.Val605Glu) c.1040T>A (p.Val347Glu) c.707T>A (p.Val236Glu) | gnomAD v4 |
7 | g.138732972C>A | CA369379119 | ATP6V0A4 | c.1813G>T (p.Val605Leu) c.1039G>T (p.Val347Leu) c.706G>T (p.Val236Leu) | |
7 | g.138732972C= | CA1746776855 | ATP6V0A4 | c.1813G= (p.Val605=) c.1039G= (p.Val347=) c.706G= (p.Val236=) | |
7 | g.138732972C>G | CA4504647 | ATP6V0A4 | c.1813G>C (p.Val605Leu) c.1039G>C (p.Val347Leu) c.706G>C (p.Val236Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732972C>T | CA4504646 | ATP6V0A4 | c.1813G>A (p.Val605Ile) c.1039G>A (p.Val347Ile) c.706G>A (p.Val236Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.138732973A= | CA1746776856 | ATP6V0A4 | c.1812T= (p.His604=) c.1038T= (p.His346=) c.705T= (p.His235=) | |
7 | g.138732973A>C | CA369379126 | ATP6V0A4 | c.1812T>G (p.His604Gln) c.1038T>G (p.His346Gln) c.705T>G (p.His235Gln) | |
7 | g.138732973A>G | CA4504648 | ATP6V0A4 | c.1812T>C (p.His604=) c.1038T>C (p.His346=) c.705T>C (p.His235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732973A>T | CA369379128 | ATP6V0A4 | c.1812T>A (p.His604Gln) c.1038T>A (p.His346Gln) c.705T>A (p.His235Gln) | |
7 | g.138732974T>A | CA369379133 | ATP6V0A4 | c.1811A>T (p.His604Leu) c.1037A>T (p.His346Leu) c.704A>T (p.His235Leu) | |
7 | g.138732974T>C | CA4504649 | ATP6V0A4 | c.1811A>G (p.His604Arg) c.1037A>G (p.His346Arg) c.704A>G (p.His235Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138732974T>G | CA369379139 | ATP6V0A4 | c.1811A>C (p.His604Pro) c.1037A>C (p.His346Pro) c.704A>C (p.His235Pro) | |
7 | g.138732974T= | CA1746776857 | ATP6V0A4 | c.1811A= (p.His604=) c.1037A= (p.His346=) c.704A= (p.His235=) | |
7 | g.138732975G>A | CA369379143 | ATP6V0A4 | c.1810C>T (p.His604Tyr) c.1036C>T (p.His346Tyr) c.703C>T (p.His235Tyr) | |
7 | g.138732975G>C | CA369379145 | ATP6V0A4 | c.1810C>G (p.His604Asp) c.1036C>G (p.His346Asp) c.703C>G (p.His235Asp) | |
7 | g.138732975G>T | CA369379146 | ATP6V0A4 | c.1810C>A (p.His604Asn) c.1036C>A (p.His346Asn) c.703C>A (p.His235Asn) | COSMIC |
7 | g.138732976G>A | CA458150230 | ATP6V0A4 | c.1809C>T (p.Val603=) c.1035C>T (p.Val345=) c.702C>T (p.Val234=) | |
7 | g.138732976G>C | CA458150231 | ATP6V0A4 | c.1809C>G (p.Val603=) c.1035C>G (p.Val345=) c.702C>G (p.Val234=) | |
7 | g.138732976G>T | CA458150232 | ATP6V0A4 | c.1809C>A (p.Val603=) c.1035C>A (p.Val345=) c.702C>A (p.Val234=) | |
7 | g.138732977A>C | CA369379152 | ATP6V0A4 | c.1808T>G (p.Val603Gly) c.1034T>G (p.Val345Gly) c.701T>G (p.Val234Gly) | |
7 | g.138732977A>G | CA369379150 | ATP6V0A4 | c.1808T>C (p.Val603Ala) c.1034T>C (p.Val345Ala) c.701T>C (p.Val234Ala) | gnomAD v4 |
7 | g.138732977A>T | CA369379147 | ATP6V0A4 | c.1808T>A (p.Val603Asp) c.1034T>A (p.Val345Asp) c.701T>A (p.Val234Asp) | |
7 | g.138732978C>A | CA369379155 | ATP6V0A4 | c.1807G>T (p.Val603Phe) c.1033G>T (p.Val345Phe) c.700G>T (p.Val234Phe) | |
7 | g.138732978C= | CA1746776858 | ATP6V0A4 | c.1807G= (p.Val603=) c.1033G= (p.Val345=) c.700G= (p.Val234=) | |
7 | g.138732978C>G | CA4504651 | ATP6V0A4 | c.1807G>C (p.Val603Leu) c.1033G>C (p.Val345Leu) c.700G>C (p.Val234Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732978C>T | CA4504650 | ATP6V0A4 | c.1807G>A (p.Val603Ile) c.1033G>A (p.Val345Ile) c.700G>A (p.Val234Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.138732979G>A | CA4504652 | ATP6V0A4 | c.1806C>T (p.Asp602=) c.1032C>T (p.Asp344=) c.699C>T (p.Asp233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732979G>C | CA369379160 | ATP6V0A4 | c.1806C>G (p.Asp602Glu) c.1032C>G (p.Asp344Glu) c.699C>G (p.Asp233Glu) | |
7 | g.138732979G= | CA1746776859 | ATP6V0A4 | c.1806C= (p.Asp602=) c.1032C= (p.Asp344=) c.699C= (p.Asp233=) | |
7 | g.138732979G>T | CA369379162 | ATP6V0A4 | c.1806C>A (p.Asp602Glu) c.1032C>A (p.Asp344Glu) c.699C>A (p.Asp233Glu) | |
7 | g.138732980T>A | CA369379164 | ATP6V0A4 | c.1805A>T (p.Asp602Val) c.1031A>T (p.Asp344Val) c.698A>T (p.Asp233Val) | |
7 | g.138732980T>C | CA369379166 | ATP6V0A4 | c.1805A>G (p.Asp602Gly) c.1031A>G (p.Asp344Gly) c.698A>G (p.Asp233Gly) | |
7 | g.138732980T>G | CA369379168 | ATP6V0A4 | c.1805A>C (p.Asp602Ala) c.1031A>C (p.Asp344Ala) c.698A>C (p.Asp233Ala) | |
7 | g.138732981C>A | CA369379174 | ATP6V0A4 | c.1804G>T (p.Asp602Tyr) c.1030G>T (p.Asp344Tyr) c.697G>T (p.Asp233Tyr) | |
7 | g.138732981C= | CA1746776860 | ATP6V0A4 | c.1804G= (p.Asp602=) c.1030G= (p.Asp344=) c.697G= (p.Asp233=) | |
7 | g.138732981C>G | CA369379171 | ATP6V0A4 | c.1804G>C (p.Asp602His) c.1030G>C (p.Asp344His) c.697G>C (p.Asp233His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732981C>T | CA369379173 | ATP6V0A4 | c.1804G>A (p.Asp602Asn) c.1030G>A (p.Asp344Asn) c.697G>A (p.Asp233Asn) | gnomAD v4 |
7 | g.138732982A= | CA1746776861 | ATP6V0A4 | c.1803T= (p.Phe601=) c.1029T= (p.Phe343=) c.696T= (p.Phe232=) | |
7 | g.138732982A>C | CA167133101 | ATP6V0A4 | c.1803T>G (p.Phe601Leu) c.1029T>G (p.Phe343Leu) c.696T>G (p.Phe232Leu) | dbSNP |
7 | g.138732982A>G | CA458150233 | ATP6V0A4 | c.1803T>C (p.Phe601=) c.1029T>C (p.Phe343=) c.696T>C (p.Phe232=) | |
7 | g.138732982A>T | CA369379178 | ATP6V0A4 | c.1803T>A (p.Phe601Leu) c.1029T>A (p.Phe343Leu) c.696T>A (p.Phe232Leu) | |
7 | g.138732983A>C | CA369379181 | ATP6V0A4 | c.1802T>G (p.Phe601Cys) c.1028T>G (p.Phe343Cys) c.695T>G (p.Phe232Cys) | |
7 | g.138732983A>G | CA369379183 | ATP6V0A4 | c.1802T>C (p.Phe601Ser) c.1028T>C (p.Phe343Ser) c.695T>C (p.Phe232Ser) | gnomAD v4 |
7 | g.138732983A>T | CA369379184 | ATP6V0A4 | c.1802T>A (p.Phe601Tyr) c.1028T>A (p.Phe343Tyr) c.695T>A (p.Phe232Tyr) | |
7 | g.138732984A>C | CA369379187 | ATP6V0A4 | c.1801T>G (p.Phe601Val) c.1027T>G (p.Phe343Val) c.694T>G (p.Phe232Val) | |
7 | g.138732984A>G | CA369379191 | ATP6V0A4 | c.1801T>C (p.Phe601Leu) c.1027T>C (p.Phe343Leu) c.694T>C (p.Phe232Leu) | |
7 | g.138732984A>T | CA369379189 | ATP6V0A4 | c.1801T>A (p.Phe601Ile) c.1027T>A (p.Phe343Ile) c.694T>A (p.Phe232Ile) | |
7 | g.138732985G>A | CA458150234 | ATP6V0A4 | c.1800C>T (p.Cys600=) c.1026C>T (p.Cys342=) c.693C>T (p.Cys231=) | |
7 | g.138732985G>C | CA369379194 | ATP6V0A4 | c.1800C>G (p.Cys600Trp) c.1026C>G (p.Cys342Trp) c.693C>G (p.Cys231Trp) | |
7 | g.138732985G>T | CA369379196 | ATP6V0A4 | c.1800C>A (p.Cys600Ter) c.1026C>A (p.Cys342Ter) c.693C>A (p.Cys231Ter) | |
7 | g.138732986C>A | CA369379199 | ATP6V0A4 | c.1799G>T (p.Cys600Phe) c.1025G>T (p.Cys342Phe) c.692G>T (p.Cys231Phe) | dbSNP |
7 | g.138732986C= | CA1746776862 | ATP6V0A4 | c.1799G= (p.Cys600=) c.1025G= (p.Cys342=) c.692G= (p.Cys231=) | |
7 | g.138732986C>G | CA369379202 | ATP6V0A4 | c.1799G>C (p.Cys600Ser) c.1025G>C (p.Cys342Ser) c.692G>C (p.Cys231Ser) | |
7 | g.138732986C>T | CA369379204 | ATP6V0A4 | c.1799G>A (p.Cys600Tyr) c.1025G>A (p.Cys342Tyr) c.692G>A (p.Cys231Tyr) | |
7 | g.138732987A>C | CA369379207 | ATP6V0A4 | c.1798T>G (p.Cys600Gly) c.1024T>G (p.Cys342Gly) c.691T>G (p.Cys231Gly) | |
7 | g.138732987A>G | CA369379208 | ATP6V0A4 | c.1798T>C (p.Cys600Arg) c.1024T>C (p.Cys342Arg) c.691T>C (p.Cys231Arg) | |
7 | g.138732987A>T | CA369379209 | ATP6V0A4 | c.1798T>A (p.Cys600Ser) c.1024T>A (p.Cys342Ser) c.691T>A (p.Cys231Ser) | |
7 | g.138732988G>A | CA458150235 | ATP6V0A4 | c.1797C>T (p.Cys599=) c.1023C>T (p.Cys341=) c.690C>T (p.Cys230=) | |
7 | g.138732988G>C | CA369379213 | ATP6V0A4 | c.1797C>G (p.Cys599Trp) c.1023C>G (p.Cys341Trp) c.690C>G (p.Cys230Trp) | |
7 | g.138732988G>T | CA369379216 | ATP6V0A4 | c.1797C>A (p.Cys599Ter) c.1023C>A (p.Cys341Ter) c.690C>A (p.Cys230Ter) | gnomAD v4 |
7 | g.138732989C>A | CA369379221 | ATP6V0A4 | c.1796G>T (p.Cys599Phe) c.1022G>T (p.Cys341Phe) c.689G>T (p.Cys230Phe) | |
7 | g.138732989C>G | CA369379219 | ATP6V0A4 | c.1796G>C (p.Cys599Ser) c.1022G>C (p.Cys341Ser) c.689G>C (p.Cys230Ser) | |
7 | g.138732989C>T | CA369379218 | ATP6V0A4 | c.1796G>A (p.Cys599Tyr) c.1022G>A (p.Cys341Tyr) c.689G>A (p.Cys230Tyr) | |
7 | g.138732990A>C | CA369379225 | ATP6V0A4 | c.1795T>G (p.Cys599Gly) c.1021T>G (p.Cys341Gly) c.688T>G (p.Cys230Gly) | |
7 | g.138732990A>G | CA369379227 | ATP6V0A4 | c.1795T>C (p.Cys599Arg) c.1021T>C (p.Cys341Arg) c.688T>C (p.Cys230Arg) | gnomAD v4 |
7 | g.138732990A>T | CA369379228 | ATP6V0A4 | c.1795T>A (p.Cys599Ser) c.1021T>A (p.Cys341Ser) c.688T>A (p.Cys230Ser) | |
7 | g.138732991C>A | CA369379233 | ATP6V0A4 | c.1794G>T (p.Trp598Cys) c.1020G>T (p.Trp340Cys) c.687G>T (p.Trp229Cys) | |
7 | g.138732991C= | CA1746776863 | ATP6V0A4 | c.1794G= (p.Trp598=) c.1020G= (p.Trp340=) c.687G= (p.Trp229=) | |
7 | g.138732991C>G | CA369379240 | ATP6V0A4 | c.1794G>C (p.Trp598Cys) c.1020G>C (p.Trp340Cys) c.687G>C (p.Trp229Cys) | |
7 | g.138732991C>T | CA369379243 | ATP6V0A4 | c.1794G>A (p.Trp598Ter) c.1020G>A (p.Trp340Ter) c.687G>A (p.Trp229Ter) | dbSNP gnomAD v4 |
7 | g.138732992C>A | CA369379250 | ATP6V0A4 | c.1793G>T (p.Trp598Leu) c.1019G>T (p.Trp340Leu) c.686G>T (p.Trp229Leu) | |
7 | g.138732992C>G | CA369379246 | ATP6V0A4 | c.1793G>C (p.Trp598Ser) c.1019G>C (p.Trp340Ser) c.686G>C (p.Trp229Ser) | |
7 | g.138732992C>T | CA369379248 | ATP6V0A4 | c.1793G>A (p.Trp598Ter) c.1019G>A (p.Trp340Ter) c.686G>A (p.Trp229Ter) | dbSNP gnomAD v4 |
7 | g.138732993A= | CA1746776864 | ATP6V0A4 | c.1792T= (p.Trp598=) c.1018T= (p.Trp340=) c.685T= (p.Trp229=) | |
7 | g.138732993A>C | CA369379253 | ATP6V0A4 | c.1792T>G (p.Trp598Gly) c.1018T>G (p.Trp340Gly) c.685T>G (p.Trp229Gly) | gnomAD v4 |
7 | g.138732993A>G | CA4504653 | ATP6V0A4 | c.1792T>C (p.Trp598Arg) c.1018T>C (p.Trp340Arg) c.685T>C (p.Trp229Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732993A>T | CA369379257 | ATP6V0A4 | c.1792T>A (p.Trp598Arg) c.1018T>A (p.Trp340Arg) c.685T>A (p.Trp229Arg) | |
7 | g.138732994T>A | CA369379261 | ATP6V0A4 | c.1791A>T (p.Lys597Asn) c.1017A>T (p.Lys339Asn) c.684A>T (p.Lys228Asn) | |
7 | g.138732994T>C | CA458150236 | ATP6V0A4 | c.1791A>G (p.Lys597=) c.1017A>G (p.Lys339=) c.684A>G (p.Lys228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138732994T>G | CA369379262 | ATP6V0A4 | c.1791A>C (p.Lys597Asn) c.1017A>C (p.Lys339Asn) c.684A>C (p.Lys228Asn) | |
7 | g.138732994T= | CA1746776865 | ATP6V0A4 | c.1791A= (p.Lys597=) c.1017A= (p.Lys339=) c.684A= (p.Lys228=) | |
7 | g.138732995T>A | CA369379272 | ATP6V0A4 | c.1790A>T (p.Lys597Ile) c.1016A>T (p.Lys339Ile) c.683A>T (p.Lys228Ile) | |
7 | g.138732995T>C | CA167133139 | ATP6V0A4 | c.1790A>G (p.Lys597Arg) c.1016A>G (p.Lys339Arg) c.683A>G (p.Lys228Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138732995T>G | CA369379274 | ATP6V0A4 | c.1790A>C (p.Lys597Thr) c.1016A>C (p.Lys339Thr) c.683A>C (p.Lys228Thr) | |
7 | g.138732995T= | CA1746776866 | ATP6V0A4 | c.1790A= (p.Lys597=) c.1016A= (p.Lys339=) c.683A= (p.Lys228=) | |
7 | g.138732996T>A | CA369379277 | ATP6V0A4 | c.1789A>T (p.Lys597Ter) c.1015A>T (p.Lys339Ter) c.682A>T (p.Lys228Ter) | |
7 | g.138732996T>C | CA369379278 | ATP6V0A4 | c.1789A>G (p.Lys597Glu) c.1015A>G (p.Lys339Glu) c.682A>G (p.Lys228Glu) | |
7 | g.138732996T>G | CA369379280 | ATP6V0A4 | c.1789A>C (p.Lys597Gln) c.1015A>C (p.Lys339Gln) c.682A>C (p.Lys228Gln) | dbSNP |
7 | g.138732996T= | CA1746776867 | ATP6V0A4 | c.1789A= (p.Lys597=) c.1015A= (p.Lys339=) c.682A= (p.Lys228=) | |
7 | g.138732997G>A | CA458150239 | ATP6V0A4 | c.1788C>T (p.Phe596=) c.1014C>T (p.Phe338=) c.681C>T (p.Phe227=) | |
7 | g.138732997G>C | CA369379281 | ATP6V0A4 | c.1788C>G (p.Phe596Leu) c.1014C>G (p.Phe338Leu) c.681C>G (p.Phe227Leu) | |
7 | g.138732997G>T | CA369379283 | ATP6V0A4 | c.1788C>A (p.Phe596Leu) c.1014C>A (p.Phe338Leu) c.681C>A (p.Phe227Leu) | |
7 | g.138732998A>C | CA369379285 | ATP6V0A4 | c.1787T>G (p.Phe596Cys) c.1013T>G (p.Phe338Cys) c.680T>G (p.Phe227Cys) | |
7 | g.138732998A>G | CA369379286 | ATP6V0A4 | c.1787T>C (p.Phe596Ser) c.1013T>C (p.Phe338Ser) c.680T>C (p.Phe227Ser) | |
7 | g.138732998A>T | CA369379288 | ATP6V0A4 | c.1787T>A (p.Phe596Tyr) c.1013T>A (p.Phe338Tyr) c.680T>A (p.Phe227Tyr) | |
7 | g.138732999A>C | CA369379290 | ATP6V0A4 | c.1786T>G (p.Phe596Val) c.1012T>G (p.Phe338Val) c.679T>G (p.Phe227Val) | |
7 | g.138732999A>G | CA369379292 | ATP6V0A4 | c.1786T>C (p.Phe596Leu) c.1012T>C (p.Phe338Leu) c.679T>C (p.Phe227Leu) | |
7 | g.138732999A>T | CA369379293 | ATP6V0A4 | c.1786T>A (p.Phe596Ile) c.1012T>A (p.Phe338Ile) c.679T>A (p.Phe227Ile) | |
7 | g.138733000A>C | CA369379294 | ATP6V0A4 | c.1785T>G (p.Ile595Met) c.1011T>G (p.Ile337Met) c.678T>G (p.Ile226Met) | |
7 | g.138733000A>G | CA458150241 | ATP6V0A4 | c.1785T>C (p.Ile595=) c.1011T>C (p.Ile337=) c.678T>C (p.Ile226=) | |
7 | g.138733000A>T | CA458150242 | ATP6V0A4 | c.1785T>A (p.Ile595=) c.1011T>A (p.Ile337=) c.678T>A (p.Ile226=) | |
7 | g.138733001A>C | CA369379297 | ATP6V0A4 | c.1784T>G (p.Ile595Ser) c.1010T>G (p.Ile337Ser) c.677T>G (p.Ile226Ser) | |
7 | g.138733001A>G | CA369379298 | ATP6V0A4 | c.1784T>C (p.Ile595Thr) c.1010T>C (p.Ile337Thr) c.677T>C (p.Ile226Thr) | |
7 | g.138733001A>T | CA369379296 | ATP6V0A4 | c.1784T>A (p.Ile595Asn) c.1010T>A (p.Ile337Asn) c.677T>A (p.Ile226Asn) | |
7 | g.138733002T>A | CA369379299 | ATP6V0A4 | c.1783A>T (p.Ile595Phe) c.1009A>T (p.Ile337Phe) c.676A>T (p.Ile226Phe) | |
7 | g.138733002T>C | CA369379302 | ATP6V0A4 | c.1783A>G (p.Ile595Val) c.1009A>G (p.Ile337Val) c.676A>G (p.Ile226Val) | gnomAD v4 |
7 | g.138733002T>G | CA369379300 | ATP6V0A4 | c.1783A>C (p.Ile595Leu) c.1009A>C (p.Ile337Leu) c.676A>C (p.Ile226Leu) | |
7 | g.138733003G>A | CA458150245 | ATP6V0A4 | c.1782C>T (p.Ile594=) c.1008C>T (p.Ile336=) c.675C>T (p.Ile225=) | |
7 | g.138733003G>C | CA369379303 | ATP6V0A4 | c.1782C>G (p.Ile594Met) c.1008C>G (p.Ile336Met) c.675C>G (p.Ile225Met) | |
7 | g.138733003G= | CA1746776868 | ATP6V0A4 | c.1782C= (p.Ile594=) c.1008C= (p.Ile336=) c.675C= (p.Ile225=) | |
7 | g.138733003G>T | CA458150247 | ATP6V0A4 | c.1782C>A (p.Ile594=) c.1008C>A (p.Ile336=) c.675C>A (p.Ile225=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138733004A= | CA1746776869 | ATP6V0A4 | c.1781T= (p.Ile594=) c.1007T= (p.Ile336=) c.674T= (p.Ile225=) | |
7 | g.138733004A>C | CA369379307 | ATP6V0A4 | c.1781T>G (p.Ile594Ser) c.1007T>G (p.Ile336Ser) c.674T>G (p.Ile225Ser) | |
7 | g.138733004A>G | CA4504654 | ATP6V0A4 | c.1781T>C (p.Ile594Thr) c.1007T>C (p.Ile336Thr) c.674T>C (p.Ile225Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138733004A>T | CA369379306 | ATP6V0A4 | c.1781T>A (p.Ile594Asn) c.1007T>A (p.Ile336Asn) c.674T>A (p.Ile225Asn) | gnomAD v4 |
7 | g.138733005T>A | CA369379308 | ATP6V0A4 | c.1780A>T (p.Ile594Phe) c.1006A>T (p.Ile336Phe) c.673A>T (p.Ile225Phe) | |
7 | g.138733005T>C | CA369379309 | ATP6V0A4 | c.1780A>G (p.Ile594Val) c.1006A>G (p.Ile336Val) c.673A>G (p.Ile225Val) | |
7 | g.138733005T>G | CA369379311 | ATP6V0A4 | c.1780A>C (p.Ile594Leu) c.1006A>C (p.Ile336Leu) c.673A>C (p.Ile225Leu) | |
7 | g.138733006C>A | CA4504655 | ATP6V0A4 | c.1779G>T (p.Met593Ile) c.1005G>T (p.Met335Ile) c.672G>T (p.Met224Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138733006C= | CA1746776870 | ATP6V0A4 | c.1779G= (p.Met593=) c.1005G= (p.Met335=) c.672G= (p.Met224=) | |
7 | g.138733006C>G | CA369379313 | ATP6V0A4 | c.1779G>C (p.Met593Ile) c.1005G>C (p.Met335Ile) c.672G>C (p.Met224Ile) | |
7 | g.138733006C>T | CA369379315 | ATP6V0A4 | c.1779G>A (p.Met593Ile) c.1005G>A (p.Met335Ile) c.672G>A (p.Met224Ile) | |
7 | g.138733007A>C | CA369379317 | ATP6V0A4 | c.1778T>G (p.Met593Arg) c.1004T>G (p.Met335Arg) c.671T>G (p.Met224Arg) | |
7 | g.138733007A>G | CA369379318 | ATP6V0A4 | c.1778T>C (p.Met593Thr) c.1004T>C (p.Met335Thr) c.671T>C (p.Met224Thr) | gnomAD v4 |
7 | g.138733007A>T | CA369379319 | ATP6V0A4 | c.1778T>A (p.Met593Lys) c.1004T>A (p.Met335Lys) c.671T>A (p.Met224Lys) | |
7 | g.138733008T>A | CA369379322 | ATP6V0A4 | c.1777A>T (p.Met593Leu) c.1003A>T (p.Met335Leu) c.670A>T (p.Met224Leu) | gnomAD v4 |
7 | g.138733008T>C | CA369379320 | ATP6V0A4 | c.1777A>G (p.Met593Val) c.1003A>G (p.Met335Val) c.670A>G (p.Met224Val) | gnomAD v4 |
7 | g.138733008T>G | CA369379321 | ATP6V0A4 | c.1777A>C (p.Met593Leu) c.1003A>C (p.Met335Leu) c.670A>C (p.Met224Leu) | |
7 | g.138733009G>A | CA458150252 | ATP6V0A4 | c.1776C>T (p.Phe592=) c.1002C>T (p.Phe334=) c.669C>T (p.Phe223=) | |
7 | g.138733009G>C | CA369379323 | ATP6V0A4 | c.1776C>G (p.Phe592Leu) c.1002C>G (p.Phe334Leu) c.669C>G (p.Phe223Leu) | |
7 | g.138733009G>T | CA369379324 | ATP6V0A4 | c.1776C>A (p.Phe592Leu) c.1002C>A (p.Phe334Leu) c.669C>A (p.Phe223Leu) | |
7 | g.138733010A>C | CA369379325 | ATP6V0A4 | c.1775T>G (p.Phe592Cys) c.1001T>G (p.Phe334Cys) c.668T>G (p.Phe223Cys) | |
7 | g.138733010A>G | CA369379326 | ATP6V0A4 | c.1775T>C (p.Phe592Ser) c.1001T>C (p.Phe334Ser) c.668T>C (p.Phe223Ser) | |
7 | g.138733010A>T | CA369379327 | ATP6V0A4 | c.1775T>A (p.Phe592Tyr) c.1001T>A (p.Phe334Tyr) c.668T>A (p.Phe223Tyr) | |
7 | g.138733011A>C | CA369379328 | ATP6V0A4 | c.1774T>G (p.Phe592Val) c.1000T>G (p.Phe334Val) c.667T>G (p.Phe223Val) | |
7 | g.138733011A>G | CA369379329 | ATP6V0A4 | c.1774T>C (p.Phe592Leu) c.1000T>C (p.Phe334Leu) c.667T>C (p.Phe223Leu) | |
7 | g.138733011A>T | CA369379330 | ATP6V0A4 | c.1774T>A (p.Phe592Ile) c.1000T>A (p.Phe334Ile) c.667T>A (p.Phe223Ile) | |
7 | g.138733012A>C | CA458150254 | ATP6V0A4 | c.1773T>G (p.Val591=) c.999T>G (p.Val333=) c.666T>G (p.Val222=) | |
7 | g.138733012A>G | CA458150255 | ATP6V0A4 | c.1773T>C (p.Val591=) c.999T>C (p.Val333=) c.666T>C (p.Val222=) | |
7 | g.138733012A>T | CA458150256 | ATP6V0A4 | c.1773T>A (p.Val591=) c.999T>A (p.Val333=) c.666T>A (p.Val222=) | |
7 | g.138733013A>C | CA369379331 | ATP6V0A4 | c.1772T>G (p.Val591Gly) c.998T>G (p.Val333Gly) c.665T>G (p.Val222Gly) | |
7 | g.138733013A>G | CA369379332 | ATP6V0A4 | c.1772T>C (p.Val591Ala) c.998T>C (p.Val333Ala) c.665T>C (p.Val222Ala) | |
7 | g.138733013A>T | CA369379333 | ATP6V0A4 | c.1772T>A (p.Val591Asp) c.998T>A (p.Val333Asp) c.665T>A (p.Val222Asp) |