Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |