Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.138739508A= | CA1746780005 | ATP6V0A4 | c.1572+32T= (n.1572+32T=) c.798+32T= (n.798+32T=) c.465+32T= (n.465+32T=) n.252-5254T= | |
7 | g.138739508A>G | CA1746780006 | ATP6V0A4 | c.1572+32T>C (n.1572+32T>C) c.798+32T>C (n.798+32T>C) c.465+32T>C (n.465+32T>C) n.252-5254T>C | dbSNP gnomAD v4 |
7 | g.138739510G>T | CA2715920381 | ATP6V0A4 | c.1572+30C>A (n.1572+30C>A) c.798+30C>A (n.798+30C>A) c.465+30C>A (n.465+30C>A) n.252-5256C>A | dbSNP |
7 | g.138739515_138739516dup | CA2579035744 | ATP6V0A4 | c.1572+26_1572+27dup (n.1572+26_1572+27dup) c.798+26_798+27dup (n.798+26_798+27dup) c.465+26_465+27dup (n.465+26_465+27dup) n.252-5260_252-5259dup | gnomAD v4 |
7 | g.138739514T>C | CA578200896 | ATP6V0A4 | c.1572+26A>G (n.1572+26A>G) c.798+26A>G (n.798+26A>G) c.465+26A>G (n.465+26A>G) n.252-5260A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739514T= | CA1746780007 | ATP6V0A4 | c.1572+26A= (n.1572+26A=) c.798+26A= (n.798+26A=) c.465+26A= (n.465+26A=) n.252-5260A= | |
7 | g.138739518T>G | CA2778106586 | ATP6V0A4 | c.1572+22A>C (n.1572+22A>C) c.798+22A>C (n.798+22A>C) c.465+22A>C (n.465+22A>C) n.252-5264A>C | |
7 | g.138739519A>C | CA2685127863 | ATP6V0A4 | c.1572+21T>G (n.1572+21T>G) c.798+21T>G (n.798+21T>G) c.465+21T>G (n.465+21T>G) n.252-5265T>G | gnomAD v4 |
7 | g.138739521C= | CA1746780008 | ATP6V0A4 | c.1572+19G= (n.1572+19G=) c.798+19G= (n.798+19G=) c.465+19G= (n.465+19G=) n.252-5267G= | |
7 | g.138739521C>T | CA834057061 | ATP6V0A4 | c.1572+19G>A (n.1572+19G>A) c.798+19G>A (n.798+19G>A) c.465+19G>A (n.465+19G>A) n.252-5267G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138739522C>T | CA2685127864 | ATP6V0A4 | c.1572+18G>A (n.1572+18G>A) c.798+18G>A (n.798+18G>A) c.465+18G>A (n.465+18G>A) n.252-5268G>A | gnomAD v4 |
7 | g.138739523C>T | CA2685127865 | ATP6V0A4 | c.1572+17G>A (n.1572+17G>A) c.798+17G>A (n.798+17G>A) c.465+17G>A (n.465+17G>A) n.252-5269G>A | gnomAD v4 |
7 | g.138739524A= | CA1746780009 | ATP6V0A4 | c.1572+16T= (n.1572+16T=) c.798+16T= (n.798+16T=) c.465+16T= (n.465+16T=) n.252-5270T= | |
7 | g.138739524A>G | CA834057063 | ATP6V0A4 | c.1572+16T>C (n.1572+16T>C) c.798+16T>C (n.798+16T>C) c.465+16T>C (n.465+16T>C) n.252-5270T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138739525_138739526delinsAG | CA1746780010 | ATP6V0A4 | c.1572+14_1572+15delinsCT (n.1572+14_1572+15delinsCT) c.798+14_798+15delinsCT (n.798+14_798+15delinsCT) c.465+14_465+15delinsCT (n.465+14_465+15delinsCT) n.252-5272_252-5271delinsCT | |
7 | g.138739526del | CA4504728 | ATP6V0A4 | c.1572+14del (n.1572+14del) c.798+14del (n.798+14del) c.465+14del (n.465+14del) n.252-5272del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739526G>A | CA2685127867 | ATP6V0A4 | c.1572+14C>T (n.1572+14C>T) c.798+14C>T (n.798+14C>T) c.465+14C>T (n.465+14C>T) n.252-5272C>T | ClinVar gnomAD v4 |
7 | g.138739530A= | CA1746780011 | ATP6V0A4 | c.1572+10T= (n.1572+10T=) c.798+10T= (n.798+10T=) c.465+10T= (n.465+10T=) n.252-5276T= | |
7 | g.138739530A>T | CA1746780012 | ATP6V0A4 | c.1572+10T>A (n.1572+10T>A) c.798+10T>A (n.798+10T>A) c.465+10T>A (n.465+10T>A) n.252-5276T>A | dbSNP gnomAD v4 |
7 | g.138739531C= | CA1746780013 | ATP6V0A4 | c.1572+9G= (n.1572+9G=) c.798+9G= (n.798+9G=) c.465+9G= (n.465+9G=) n.252-5277G= | |
7 | g.138739531C>T | CA4504729 | ATP6V0A4 | c.1572+9G>A (n.1572+9G>A) c.798+9G>A (n.798+9G>A) c.465+9G>A (n.465+9G>A) n.252-5277G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138739531_138739534delinsCATT | CA1746780014 | ATP6V0A4 | c.1572+6_1572+9delinsAATG (n.1572+6_1572+9delinsAATG) c.798+6_798+9delinsAATG (n.798+6_798+9delinsAATG) c.465+6_465+9delinsAATG (n.465+6_465+9delinsAATG) n.252-5280_252-5277delinsAATG | |
7 | g.138739532A= | CA1746780015 | ATP6V0A4 | c.1572+8T= (n.1572+8T=) c.798+8T= (n.798+8T=) c.465+8T= (n.465+8T=) n.252-5278T= | |
7 | g.138739532A>G | CA578200911 | ATP6V0A4 | c.1572+8T>C (n.1572+8T>C) c.798+8T>C (n.798+8T>C) c.465+8T>C (n.465+8T>C) n.252-5278T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739536_138739538del | CA578200902 | ATP6V0A4 | c.1572+6_1572+8del (n.1572+6_1572+8del) c.798+6_798+8del (n.798+6_798+8del) c.465+6_465+8del (n.465+6_465+8del) n.252-5280_252-5278del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739534T>C | CA2685127873 | ATP6V0A4 | c.1572+6A>G (n.1572+6A>G) c.798+6A>G (n.798+6A>G) c.465+6A>G (n.465+6A>G) n.252-5280A>G | gnomAD v4 |
7 | g.138739534T>G | CA2685127871 | ATP6V0A4 | c.1572+6A>C (n.1572+6A>C) c.798+6A>C (n.798+6A>C) c.465+6A>C (n.465+6A>C) n.252-5280A>C | gnomAD v4 |
7 | g.138739536T>C | CA2685127874 | ATP6V0A4 | c.1572+4A>G (n.1572+4A>G) c.798+4A>G (n.798+4A>G) c.465+4A>G (n.465+4A>G) n.252-5282A>G | gnomAD v4 |
7 | g.138739538A= | CA1746780016 | ATP6V0A4 | c.1572+2T= (n.1572+2T=) c.798+2T= (n.798+2T=) c.465+2T= (n.465+2T=) n.252-5284T= | |
7 | g.138739538A>C | CA369370174 | ATP6V0A4 | c.1572+2T>G (n.1572+2T>G) c.798+2T>G (n.798+2T>G) c.465+2T>G (n.465+2T>G) n.252-5284T>G | |
7 | g.138739538A>G | CA4504730 | ATP6V0A4 | c.1572+2T>C (n.1572+2T>C) c.798+2T>C (n.798+2T>C) c.465+2T>C (n.465+2T>C) n.252-5284T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138739538A>T | CA369370173 | ATP6V0A4 | c.1572+2T>A (n.1572+2T>A) c.798+2T>A (n.798+2T>A) c.465+2T>A (n.465+2T>A) n.252-5284T>A | |
7 | g.138739539C>A | CA369370177 | ATP6V0A4 | c.1572+1G>T (n.1572+1G>T) c.798+1G>T (n.798+1G>T) c.465+1G>T (n.465+1G>T) n.252-5285G>T | |
7 | g.138739539C= | CA1746780017 | ATP6V0A4 | c.1572+1G= (n.1572+1G=) c.798+1G= (n.798+1G=) c.465+1G= (n.465+1G=) n.252-5285G= | |
7 | g.138739539C>G | CA369370175 | ATP6V0A4 | c.1572+1G>C (n.1572+1G>C) c.798+1G>C (n.798+1G>C) c.465+1G>C (n.465+1G>C) n.252-5285G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138739539C>T | CA369370176 | ATP6V0A4 | c.1572+1G>A (n.1572+1G>A) c.798+1G>A (n.798+1G>A) c.465+1G>A (n.465+1G>A) n.252-5285G>A | dbSNP |
7 | g.138739540C>A | CA457938019 | ATP6V0A4 | c.1572G>T (p.Pro524=) c.798G>T (p.Pro266=) c.465G>T (p.Pro155=) n.252-5286G>T | |
7 | g.138739540C= | CA1746780018 | ATP6V0A4 | c.1572G= (p.Pro524=) c.798G= (p.Pro266=) c.465G= (p.Pro155=) n.252-5286G= | |
7 | g.138739540C>G | CA457938020 | ATP6V0A4 | c.1572G>C (p.Pro524=) c.798G>C (p.Pro266=) c.465G>C (p.Pro155=) n.252-5286G>C | |
7 | g.138739540C>T | CA4504731 | ATP6V0A4 | c.1572G>A (p.Pro524=) c.798G>A (p.Pro266=) c.465G>A (p.Pro155=) n.252-5286G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.138739541G>A | CA117295 | ATP6V0A4 | c.1571C>T (p.Pro524Leu) c.797C>T (p.Pro266Leu) c.464C>T (p.Pro155Leu) n.252-5287C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739541G>C | CA369370178 | ATP6V0A4 | c.1571C>G (p.Pro524Arg) c.797C>G (p.Pro266Arg) c.464C>G (p.Pro155Arg) n.252-5287C>G | |
7 | g.138739541G= | CA1746780019 | ATP6V0A4 | c.1571C= (p.Pro524=) c.797C= (p.Pro266=) c.464C= (p.Pro155=) n.252-5287C= | |
7 | g.138739541G>T | CA369370179 | ATP6V0A4 | c.1571C>A (p.Pro524Gln) c.797C>A (p.Pro266Gln) c.464C>A (p.Pro155Gln) n.252-5287C>A | |
7 | g.138739542del | CA2685127879 | ATP6V0A4 | c.1571del (p.Pro524ArgfsTer13) c.797del (p.Pro266ArgfsTer13) c.464del (p.Pro155ArgfsTer13) n.252-5287del | gnomAD v4 |
7 | g.138739542G>A | CA369370180 | ATP6V0A4 | c.1570C>T (p.Pro524Ser) c.796C>T (p.Pro266Ser) c.463C>T (p.Pro155Ser) n.252-5288C>T | |
7 | g.138739542G>C | CA369370181 | ATP6V0A4 | c.1570C>G (p.Pro524Ala) c.796C>G (p.Pro266Ala) c.463C>G (p.Pro155Ala) n.252-5288C>G | |
7 | g.138739542G>T | CA369370182 | ATP6V0A4 | c.1570C>A (p.Pro524Thr) c.796C>A (p.Pro266Thr) c.463C>A (p.Pro155Thr) n.252-5288C>A | |
7 | g.138739543A>C | CA369370183 | ATP6V0A4 | c.1569T>G (p.Asp523Glu) c.795T>G (p.Asp265Glu) c.462T>G (p.Asp154Glu) n.252-5289T>G | |
7 | g.138739543A>G | CA457938021 | ATP6V0A4 | c.1569T>C (p.Asp523=) c.795T>C (p.Asp265=) c.462T>C (p.Asp154=) n.252-5289T>C | |
7 | g.138739543A>T | CA369370184 | ATP6V0A4 | c.1569T>A (p.Asp523Glu) c.795T>A (p.Asp265Glu) c.462T>A (p.Asp154Glu) n.252-5289T>A | |
7 | g.138739544T>A | CA369370187 | ATP6V0A4 | c.1568A>T (p.Asp523Val) c.794A>T (p.Asp265Val) c.461A>T (p.Asp154Val) n.252-5290A>T | |
7 | g.138739544T>C | CA369370186 | ATP6V0A4 | c.1568A>G (p.Asp523Gly) c.794A>G (p.Asp265Gly) c.461A>G (p.Asp154Gly) n.252-5290A>G | |
7 | g.138739544T>G | CA369370185 | ATP6V0A4 | c.1568A>C (p.Asp523Ala) c.794A>C (p.Asp265Ala) c.461A>C (p.Asp154Ala) n.252-5290A>C | |
7 | g.138739545C>A | CA369370188 | ATP6V0A4 | c.1567G>T (p.Asp523Tyr) c.793G>T (p.Asp265Tyr) c.460G>T (p.Asp154Tyr) n.252-5291G>T | |
7 | g.138739545C>G | CA369370189 | ATP6V0A4 | c.1567G>C (p.Asp523His) c.793G>C (p.Asp265His) c.460G>C (p.Asp154His) n.252-5291G>C | |
7 | g.138739545C>T | CA369370190 | ATP6V0A4 | c.1567G>A (p.Asp523Asn) c.793G>A (p.Asp265Asn) c.460G>A (p.Asp154Asn) n.252-5291G>A | |
7 | g.138739546A>C | CA369370191 | ATP6V0A4 | c.1566T>G (p.Ile522Met) c.792T>G (p.Ile264Met) c.459T>G (p.Ile153Met) n.252-5292T>G | |
7 | g.138739546A>G | CA457938022 | ATP6V0A4 | c.1566T>C (p.Ile522=) c.792T>C (p.Ile264=) c.459T>C (p.Ile153=) n.252-5292T>C | |
7 | g.138739546A>T | CA457938023 | ATP6V0A4 | c.1566T>A (p.Ile522=) c.792T>A (p.Ile264=) c.459T>A (p.Ile153=) n.252-5292T>A | |
7 | g.138739547A= | CA1746780020 | ATP6V0A4 | c.1565T= (p.Ile522=) c.791T= (p.Ile264=) c.458T= (p.Ile153=) n.252-5293T= | |
7 | g.138739547A>C | CA369370192 | ATP6V0A4 | c.1565T>G (p.Ile522Ser) c.791T>G (p.Ile264Ser) c.458T>G (p.Ile153Ser) n.252-5293T>G | |
7 | g.138739547A>G | CA369370193 | ATP6V0A4 | c.1565T>C (p.Ile522Thr) c.791T>C (p.Ile264Thr) c.458T>C (p.Ile153Thr) n.252-5293T>C | dbSNP |
7 | g.138739547A>T | CA369370194 | ATP6V0A4 | c.1565T>A (p.Ile522Asn) c.791T>A (p.Ile264Asn) c.458T>A (p.Ile153Asn) n.252-5293T>A | |
7 | g.138739548T>A | CA369370195 | ATP6V0A4 | c.1564A>T (p.Ile522Phe) c.790A>T (p.Ile264Phe) c.457A>T (p.Ile153Phe) n.252-5294A>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.138739548T>C | CA4504732 | ATP6V0A4 | c.1564A>G (p.Ile522Val) c.790A>G (p.Ile264Val) c.457A>G (p.Ile153Val) n.252-5294A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138739548T>G | CA369370196 | ATP6V0A4 | c.1564A>C (p.Ile522Leu) c.790A>C (p.Ile264Leu) c.457A>C (p.Ile153Leu) n.252-5294A>C | |
7 | g.138739548T= | CA1746780021 | ATP6V0A4 | c.1564A= (p.Ile522=) c.790A= (p.Ile264=) c.457A= (p.Ile153=) n.252-5294A= | |
7 | g.138739549C>A | CA457938025 | ATP6V0A4 | c.1563G>T (p.Gly521=) c.789G>T (p.Gly263=) c.456G>T (p.Gly152=) n.252-5295G>T | |
7 | g.138739549C>G | CA457938026 | ATP6V0A4 | c.1563G>C (p.Gly521=) c.789G>C (p.Gly263=) c.456G>C (p.Gly152=) n.252-5295G>C | |
7 | g.138739549C>T | CA457938027 | ATP6V0A4 | c.1563G>A (p.Gly521=) c.789G>A (p.Gly263=) c.456G>A (p.Gly152=) n.252-5295G>A | gnomAD v4 |
7 | g.138739550C>A | CA369370197 | ATP6V0A4 | c.1562G>T (p.Gly521Val) c.788G>T (p.Gly263Val) c.455G>T (p.Gly152Val) n.252-5296G>T | ClinVar gnomAD v4 |
7 | g.138739550C= | CA1746780023 | ATP6V0A4 | c.1562G= (p.Gly521=) c.788G= (p.Gly263=) c.455G= (p.Gly152=) n.252-5296G= | |
7 | g.138739550C>G | CA369370198 | ATP6V0A4 | c.1562G>C (p.Gly521Ala) c.788G>C (p.Gly263Ala) c.455G>C (p.Gly152Ala) n.252-5296G>C | |
7 | g.138739550C>T | CA167108538 | ATP6V0A4 | c.1562G>A (p.Gly521Glu) c.788G>A (p.Gly263Glu) c.455G>A (p.Gly152Glu) n.252-5296G>A | dbSNP |
7 | g.138739550_138739551insAATC | CA2715920428 | ATP6V0A4 | c.1562_1563insATTG (p.Ile522LeufsTer3) c.788_789insATTG (p.Ile264LeufsTer3) c.455_456insATTG (p.Ile153LeufsTer3) n.252-5296_252-5295insATTG | dbSNP |
7 | g.138739550_138739554delinsCCAAA | CA1746780022 | ATP6V0A4 | c.1558_1562delinsTTTGG (p.Phe520=) c.784_788delinsTTTGG (p.Phe262=) c.451_455delinsTTTGG (p.Phe151=) n.252-5300_252-5296delinsTTTGG | |
7 | g.138739551C>A | CA369370200 | ATP6V0A4 | c.1561G>T (p.Gly521Trp) c.787G>T (p.Gly263Trp) c.454G>T (p.Gly152Trp) n.252-5297G>T | |
7 | g.138739551C>G | CA369370201 | ATP6V0A4 | c.1561G>C (p.Gly521Arg) c.787G>C (p.Gly263Arg) c.454G>C (p.Gly152Arg) n.252-5297G>C | |
7 | g.138739551C>T | CA369370199 | ATP6V0A4 | c.1561G>A (p.Gly521Arg) c.787G>A (p.Gly263Arg) c.454G>A (p.Gly152Arg) n.252-5297G>A | |
7 | g.138739551_138739554delinsGT | CA2695208557 | ATP6V0A4 | c.1558_1561delinsAC (p.Phe520ThrfsTer3) c.784_787delinsAC (p.Phe262ThrfsTer3) c.451_454delinsAC (p.Phe151ThrfsTer3) n.252-5300_252-5297delinsAC | |
7 | g.138739552_138739555del | CA4504733 | ATP6V0A4 | c.1558_1561del (p.Phe520GlyfsTer16) c.784_787del (p.Phe262GlyfsTer16) c.451_454del (p.Phe151GlyfsTer16) n.252-5300_252-5297del | dbSNP ExAC gnomAD v2 |
7 | g.138739552A>C | CA369370203 | ATP6V0A4 | c.1560T>G (p.Phe520Leu) c.786T>G (p.Phe262Leu) c.453T>G (p.Phe151Leu) n.252-5298T>G | |
7 | g.138739552A>G | CA457938030 | ATP6V0A4 | c.1560T>C (p.Phe520=) c.786T>C (p.Phe262=) c.453T>C (p.Phe151=) n.252-5298T>C | |
7 | g.138739552A>T | CA369370202 | ATP6V0A4 | c.1560T>A (p.Phe520Leu) c.786T>A (p.Phe262Leu) c.453T>A (p.Phe151Leu) n.252-5298T>A | |
7 | g.138739553A>C | CA369370204 | ATP6V0A4 | c.1559T>G (p.Phe520Cys) c.785T>G (p.Phe262Cys) c.452T>G (p.Phe151Cys) n.252-5299T>G | |
7 | g.138739553A>G | CA369370205 | ATP6V0A4 | c.1559T>C (p.Phe520Ser) c.785T>C (p.Phe262Ser) c.452T>C (p.Phe151Ser) n.252-5299T>C | |
7 | g.138739553A>T | CA369370206 | ATP6V0A4 | c.1559T>A (p.Phe520Tyr) c.785T>A (p.Phe262Tyr) c.452T>A (p.Phe151Tyr) n.252-5299T>A | |
7 | g.138739554A= | CA1746780024 | ATP6V0A4 | c.1558T= (p.Phe520=) c.784T= (p.Phe262=) c.451T= (p.Phe151=) n.252-5300T= | |
7 | g.138739554A>C | CA369370207 | ATP6V0A4 | c.1558T>G (p.Phe520Val) c.784T>G (p.Phe262Val) c.451T>G (p.Phe151Val) n.252-5300T>G | |
7 | g.138739554A>G | CA369370208 | ATP6V0A4 | c.1558T>C (p.Phe520Leu) c.784T>C (p.Phe262Leu) c.451T>C (p.Phe151Leu) n.252-5300T>C | gnomAD v4 |
7 | g.138739554A>T | CA369370209 | ATP6V0A4 | c.1558T>A (p.Phe520Ile) c.784T>A (p.Phe262Ile) c.451T>A (p.Phe151Ile) n.252-5300T>A | |
7 | g.138739554_138739555insGT | CA4504734 | ATP6V0A4 | c.1557_1558insAC (p.Phe520ThrfsTer18) c.783_784insAC (p.Phe262ThrfsTer18) c.450_451insAC (p.Phe151ThrfsTer18) n.252-5301_252-5300insAC | dbSNP ExAC gnomAD v2 |
7 | g.138739555C>A | CA4504736 | ATP6V0A4 | c.1557G>T (p.Pro519=) c.783G>T (p.Pro261=) c.450G>T (p.Pro150=) n.252-5301G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138739555C= | CA1746780025 | ATP6V0A4 | c.1557G= (p.Pro519=) c.783G= (p.Pro261=) c.450G= (p.Pro150=) n.252-5301G= | |
7 | g.138739555C>G | CA457938033 | ATP6V0A4 | c.1557G>C (p.Pro519=) c.783G>C (p.Pro261=) c.450G>C (p.Pro150=) n.252-5301G>C | |
7 | g.138739555C>T | CA4504735 | ATP6V0A4 | c.1557G>A (p.Pro519=) c.783G>A (p.Pro261=) c.450G>A (p.Pro150=) n.252-5301G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739556G>A | CA4504737 | ATP6V0A4 | c.1556C>T (p.Pro519Leu) c.782C>T (p.Pro261Leu) c.449C>T (p.Pro150Leu) n.252-5302C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739556G>C | CA369370210 | ATP6V0A4 | c.1556C>G (p.Pro519Arg) c.782C>G (p.Pro261Arg) c.449C>G (p.Pro150Arg) n.252-5302C>G | |
7 | g.138739556G= | CA1746780026 | ATP6V0A4 | c.1556C= (p.Pro519=) c.782C= (p.Pro261=) c.449C= (p.Pro150=) n.252-5302C= | |
7 | g.138739556G>T | CA369370211 | ATP6V0A4 | c.1556C>A (p.Pro519Gln) c.782C>A (p.Pro261Gln) c.449C>A (p.Pro150Gln) n.252-5302C>A | |
7 | g.138739557G>A | CA369370212 | ATP6V0A4 | c.1555C>T (p.Pro519Ser) c.781C>T (p.Pro261Ser) c.448C>T (p.Pro150Ser) n.252-5303C>T | |
7 | g.138739557G>C | CA369370214 | ATP6V0A4 | c.1555C>G (p.Pro519Ala) c.781C>G (p.Pro261Ala) c.448C>G (p.Pro150Ala) n.252-5303C>G | |
7 | g.138739557G>T | CA369370213 | ATP6V0A4 | c.1555C>A (p.Pro519Thr) c.781C>A (p.Pro261Thr) c.448C>A (p.Pro150Thr) n.252-5303C>A | |
7 | g.138739558G>A | CA457938034 | ATP6V0A4 | c.1554C>T (p.Tyr518=) c.780C>T (p.Tyr260=) c.447C>T (p.Tyr149=) n.252-5304C>T | |
7 | g.138739558G>C | CA369370215 | ATP6V0A4 | c.1554C>G (p.Tyr518Ter) c.780C>G (p.Tyr260Ter) c.447C>G (p.Tyr149Ter) n.252-5304C>G | |
7 | g.138739558G>T | CA369370216 | ATP6V0A4 | c.1554C>A (p.Tyr518Ter) c.780C>A (p.Tyr260Ter) c.447C>A (p.Tyr149Ter) n.252-5304C>A | |
7 | g.138739559T>A | CA369370217 | ATP6V0A4 | c.1553A>T (p.Tyr518Phe) c.779A>T (p.Tyr260Phe) c.446A>T (p.Tyr149Phe) n.252-5305A>T | |
7 | g.138739559T>C | CA4504738 | ATP6V0A4 | c.1553A>G (p.Tyr518Cys) c.779A>G (p.Tyr260Cys) c.446A>G (p.Tyr149Cys) n.252-5305A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138739559T>G | CA369370218 | ATP6V0A4 | c.1553A>C (p.Tyr518Ser) c.779A>C (p.Tyr260Ser) c.446A>C (p.Tyr149Ser) n.252-5305A>C | |
7 | g.138739559T= | CA1746780027 | ATP6V0A4 | c.1553A= (p.Tyr518=) c.779A= (p.Tyr260=) c.446A= (p.Tyr149=) n.252-5305A= | |
7 | g.138739560A>C | CA369370219 | ATP6V0A4 | c.1552T>G (p.Tyr518Asp) c.778T>G (p.Tyr260Asp) c.445T>G (p.Tyr149Asp) n.252-5306T>G | |
7 | g.138739560A>G | CA369370220 | ATP6V0A4 | c.1552T>C (p.Tyr518His) c.778T>C (p.Tyr260His) c.445T>C (p.Tyr149His) n.252-5306T>C | |
7 | g.138739560A>T | CA369370221 | ATP6V0A4 | c.1552T>A (p.Tyr518Asn) c.778T>A (p.Tyr260Asn) c.445T>A (p.Tyr149Asn) n.252-5306T>A | |
7 | g.138739561T>A | CA457938035 | ATP6V0A4 | c.1551A>T (p.Pro517=) c.777A>T (p.Pro259=) c.444A>T (p.Pro148=) n.252-5307A>T | |
7 | g.138739561T>C | CA457938036 | ATP6V0A4 | c.1551A>G (p.Pro517=) c.777A>G (p.Pro259=) c.444A>G (p.Pro148=) n.252-5307A>G | dbSNP gnomAD v4 |
7 | g.138739561T>G | CA457938037 | ATP6V0A4 | c.1551A>C (p.Pro517=) c.777A>C (p.Pro259=) c.444A>C (p.Pro148=) n.252-5307A>C | |
7 | g.138739561T= | CA1746780028 | ATP6V0A4 | c.1551A= (p.Pro517=) c.777A= (p.Pro259=) c.444A= (p.Pro148=) n.252-5307A= | |
7 | g.138739562G>A | CA369370222 | ATP6V0A4 | c.1550C>T (p.Pro517Leu) c.776C>T (p.Pro259Leu) c.443C>T (p.Pro148Leu) n.252-5308C>T | |
7 | g.138739562G>C | CA369370223 | ATP6V0A4 | c.1550C>G (p.Pro517Arg) c.776C>G (p.Pro259Arg) c.443C>G (p.Pro148Arg) n.252-5308C>G | |
7 | g.138739562G>T | CA369370224 | ATP6V0A4 | c.1550C>A (p.Pro517Gln) c.776C>A (p.Pro259Gln) c.443C>A (p.Pro148Gln) n.252-5308C>A | |
7 | g.138739563G>A | CA369370226 | ATP6V0A4 | c.1549C>T (p.Pro517Ser) c.775C>T (p.Pro259Ser) c.442C>T (p.Pro148Ser) n.252-5309C>T | gnomAD v4 |
7 | g.138739563G>C | CA369370227 | ATP6V0A4 | c.1549C>G (p.Pro517Ala) c.775C>G (p.Pro259Ala) c.442C>G (p.Pro148Ala) n.252-5309C>G | |
7 | g.138739563G>T | CA369370225 | ATP6V0A4 | c.1549C>A (p.Pro517Thr) c.775C>A (p.Pro259Thr) c.442C>A (p.Pro148Thr) n.252-5309C>A | |
7 | g.138739564A>C | CA369370228 | ATP6V0A4 | c.1548T>G (p.Asn516Lys) c.774T>G (p.Asn258Lys) c.441T>G (p.Asn147Lys) n.252-5310T>G | |
7 | g.138739564A>G | CA457938038 | ATP6V0A4 | c.1548T>C (p.Asn516=) c.774T>C (p.Asn258=) c.441T>C (p.Asn147=) n.252-5310T>C | |
7 | g.138739564A>T | CA369370229 | ATP6V0A4 | c.1548T>A (p.Asn516Lys) c.774T>A (p.Asn258Lys) c.441T>A (p.Asn147Lys) n.252-5310T>A | |
7 | g.138739565T>A | CA369370230 | ATP6V0A4 | c.1547A>T (p.Asn516Ile) c.773A>T (p.Asn258Ile) c.440A>T (p.Asn147Ile) n.252-5311A>T | |
7 | g.138739565T>C | CA369370231 | ATP6V0A4 | c.1547A>G (p.Asn516Ser) c.773A>G (p.Asn258Ser) c.440A>G (p.Asn147Ser) n.252-5311A>G | |
7 | g.138739565T>G | CA369370232 | ATP6V0A4 | c.1547A>C (p.Asn516Thr) c.773A>C (p.Asn258Thr) c.440A>C (p.Asn147Thr) n.252-5311A>C | |
7 | g.138739566T>A | CA369370233 | ATP6V0A4 | c.1546A>T (p.Asn516Tyr) c.772A>T (p.Asn258Tyr) c.439A>T (p.Asn147Tyr) n.252-5312A>T | |
7 | g.138739566T>C | CA369370234 | ATP6V0A4 | c.1546A>G (p.Asn516Asp) c.772A>G (p.Asn258Asp) c.439A>G (p.Asn147Asp) n.252-5312A>G | |
7 | g.138739566T>G | CA369370235 | ATP6V0A4 | c.1546A>C (p.Asn516His) c.772A>C (p.Asn258His) c.439A>C (p.Asn147His) n.252-5312A>C | |
7 | g.138739567T>A | CA457938040 | ATP6V0A4 | c.1545A>T (p.Gly515=) c.771A>T (p.Gly257=) c.438A>T (p.Gly146=) n.252-5313A>T | |
7 | g.138739567T>C | CA457938041 | ATP6V0A4 | c.1545A>G (p.Gly515=) c.771A>G (p.Gly257=) c.438A>G (p.Gly146=) n.252-5313A>G | |
7 | g.138739567T>G | CA457938042 | ATP6V0A4 | c.1545A>C (p.Gly515=) c.771A>C (p.Gly257=) c.438A>C (p.Gly146=) n.252-5313A>C | |
7 | g.138739568C>A | CA369370236 | ATP6V0A4 | c.1544G>T (p.Gly515Val) c.770G>T (p.Gly257Val) c.437G>T (p.Gly146Val) n.252-5314G>T | |
7 | g.138739568C>G | CA369370237 | ATP6V0A4 | c.1544G>C (p.Gly515Ala) c.770G>C (p.Gly257Ala) c.437G>C (p.Gly146Ala) n.252-5314G>C | |
7 | g.138739568C>T | CA369370238 | ATP6V0A4 | c.1544G>A (p.Gly515Glu) c.770G>A (p.Gly257Glu) c.437G>A (p.Gly146Glu) n.252-5314G>A | |
7 | g.138739569C>A | CA369370239 | ATP6V0A4 | c.1543G>T (p.Gly515Ter) c.769G>T (p.Gly257Ter) c.436G>T (p.Gly146Ter) n.252-5315G>T | |
7 | g.138739569C>G | CA369370240 | ATP6V0A4 | c.1543G>C (p.Gly515Arg) c.769G>C (p.Gly257Arg) c.436G>C (p.Gly146Arg) n.252-5315G>C | |
7 | g.138739569C>T | CA369370241 | ATP6V0A4 | c.1543G>A (p.Gly515Arg) c.769G>A (p.Gly257Arg) c.436G>A (p.Gly146Arg) n.252-5315G>A | |
7 | g.138739570A>C | CA369370243 | ATP6V0A4 | c.1542T>G (p.Phe514Leu) c.768T>G (p.Phe256Leu) c.435T>G (p.Phe145Leu) n.252-5316T>G | |
7 | g.138739570A>G | CA457938043 | ATP6V0A4 | c.1542T>C (p.Phe514=) c.768T>C (p.Phe256=) c.435T>C (p.Phe145=) n.252-5316T>C | |
7 | g.138739570A>T | CA369370242 | ATP6V0A4 | c.1542T>A (p.Phe514Leu) c.768T>A (p.Phe256Leu) c.435T>A (p.Phe145Leu) n.252-5316T>A | |
7 | g.138739571A>C | CA369370244 | ATP6V0A4 | c.1541T>G (p.Phe514Cys) c.767T>G (p.Phe256Cys) c.434T>G (p.Phe145Cys) n.252-5317T>G | |
7 | g.138739571A>G | CA369370245 | ATP6V0A4 | c.1541T>C (p.Phe514Ser) c.767T>C (p.Phe256Ser) c.434T>C (p.Phe145Ser) n.252-5317T>C | gnomAD v4 |
7 | g.138739571A>T | CA369370246 | ATP6V0A4 | c.1541T>A (p.Phe514Tyr) c.767T>A (p.Phe256Tyr) c.434T>A (p.Phe145Tyr) n.252-5317T>A | |
7 | g.138739572A= | CA1746780029 | ATP6V0A4 | c.1540T= (p.Phe514=) c.766T= (p.Phe256=) c.433T= (p.Phe145=) n.252-5318T= | |
7 | g.138739572A>C | CA369370247 | ATP6V0A4 | c.1540T>G (p.Phe514Val) c.766T>G (p.Phe256Val) c.433T>G (p.Phe145Val) n.252-5318T>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138739572A>G | CA369370248 | ATP6V0A4 | c.1540T>C (p.Phe514Leu) c.766T>C (p.Phe256Leu) c.433T>C (p.Phe145Leu) n.252-5318T>C | |
7 | g.138739572A>T | CA369370249 | ATP6V0A4 | c.1540T>A (p.Phe514Ile) c.766T>A (p.Phe256Ile) c.433T>A (p.Phe145Ile) n.252-5318T>A | |
7 | g.138739573A= | CA1746780030 | ATP6V0A4 | c.1539T= (p.Tyr513=) c.765T= (p.Tyr255=) c.432T= (p.Tyr144=) n.252-5319T= | |
7 | g.138739573A>C | CA369370251 | ATP6V0A4 | c.1539T>G (p.Tyr513Ter) c.765T>G (p.Tyr255Ter) c.432T>G (p.Tyr144Ter) n.252-5319T>G | dbSNP |
7 | g.138739573A>G | CA4504739 | ATP6V0A4 | c.1539T>C (p.Tyr513=) c.765T>C (p.Tyr255=) c.432T>C (p.Tyr144=) n.252-5319T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739573A>T | CA369370250 | ATP6V0A4 | c.1539T>A (p.Tyr513Ter) c.765T>A (p.Tyr255Ter) c.432T>A (p.Tyr144Ter) n.252-5319T>A | |
7 | g.138739574T>A | CA369370252 | ATP6V0A4 | c.1538A>T (p.Tyr513Phe) c.764A>T (p.Tyr255Phe) c.431A>T (p.Tyr144Phe) n.252-5320A>T | |
7 | g.138739574T>C | CA369370253 | ATP6V0A4 | c.1538A>G (p.Tyr513Cys) c.764A>G (p.Tyr255Cys) c.431A>G (p.Tyr144Cys) n.252-5320A>G | |
7 | g.138739574T>G | CA369370254 | ATP6V0A4 | c.1538A>C (p.Tyr513Ser) c.764A>C (p.Tyr255Ser) c.431A>C (p.Tyr144Ser) n.252-5320A>C | |
7 | g.138739575A= | CA1746780031 | ATP6V0A4 | c.1537T= (p.Tyr513=) c.763T= (p.Tyr255=) c.430T= (p.Tyr144=) n.252-5321T= | |
7 | g.138739575A>C | CA369370255 | ATP6V0A4 | c.1537T>G (p.Tyr513Asp) c.763T>G (p.Tyr255Asp) c.430T>G (p.Tyr144Asp) n.252-5321T>G | |
7 | g.138739575A>G | CA369370256 | ATP6V0A4 | c.1537T>C (p.Tyr513His) c.763T>C (p.Tyr255His) c.430T>C (p.Tyr144His) n.252-5321T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138739575A>T | CA369370257 | ATP6V0A4 | c.1537T>A (p.Tyr513Asn) c.763T>A (p.Tyr255Asn) c.430T>A (p.Tyr144Asn) n.252-5321T>A | |
7 | g.138739576C>A | CA4504740 | ATP6V0A4 | c.1536G>T (p.Val512=) c.762G>T (p.Val254=) c.429G>T (p.Val143=) n.252-5322G>T | dbSNP ExAC gnomAD v2 |
7 | g.138739576C= | CA1746780032 | ATP6V0A4 | c.1536G= (p.Val512=) c.762G= (p.Val254=) c.429G= (p.Val143=) n.252-5322G= | |
7 | g.138739576C>G | CA457938045 | ATP6V0A4 | c.1536G>C (p.Val512=) c.762G>C (p.Val254=) c.429G>C (p.Val143=) n.252-5322G>C | |
7 | g.138739576C>T | CA457938046 | ATP6V0A4 | c.1536G>A (p.Val512=) c.762G>A (p.Val254=) c.429G>A (p.Val143=) n.252-5322G>A | |
7 | g.138739577A>C | CA369370259 | ATP6V0A4 | c.1535T>G (p.Val512Gly) c.761T>G (p.Val254Gly) c.428T>G (p.Val143Gly) n.252-5323T>G | |
7 | g.138739577A>G | CA369370258 | ATP6V0A4 | c.1535T>C (p.Val512Ala) c.761T>C (p.Val254Ala) c.428T>C (p.Val143Ala) n.252-5323T>C | |
7 | g.138739577A>T | CA369370260 | ATP6V0A4 | c.1535T>A (p.Val512Glu) c.761T>A (p.Val254Glu) c.428T>A (p.Val143Glu) n.252-5323T>A | |
7 | g.138739578C>A | CA4504741 | ATP6V0A4 | c.1534G>T (p.Val512Leu) c.760G>T (p.Val254Leu) c.427G>T (p.Val143Leu) n.252-5324G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138739578C= | CA1746780033 | ATP6V0A4 | c.1534G= (p.Val512=) c.760G= (p.Val254=) c.427G= (p.Val143=) n.252-5324G= | |
7 | g.138739578C>G | CA369370262 | ATP6V0A4 | c.1534G>C (p.Val512Leu) c.760G>C (p.Val254Leu) c.427G>C (p.Val143Leu) n.252-5324G>C | gnomAD v4 |
7 | g.138739578C>T | CA369370261 | ATP6V0A4 | c.1534G>A (p.Val512Met) c.760G>A (p.Val254Met) c.427G>A (p.Val143Met) n.252-5324G>A | gnomAD v4 |
7 | g.138739579T>A | CA457938049 | ATP6V0A4 | c.1533A>T (p.Gly511=) c.759A>T (p.Gly253=) c.426A>T (p.Gly142=) n.252-5325A>T | |
7 | g.138739579T>C | CA457938047 | ATP6V0A4 | c.1533A>G (p.Gly511=) c.759A>G (p.Gly253=) c.426A>G (p.Gly142=) n.252-5325A>G | |
7 | g.138739579T>G | CA457938048 | ATP6V0A4 | c.1533A>C (p.Gly511=) c.759A>C (p.Gly253=) c.426A>C (p.Gly142=) n.252-5325A>C | |
7 | g.138739580C>A | CA369370263 | ATP6V0A4 | c.1532G>T (p.Gly511Val) c.758G>T (p.Gly253Val) c.425G>T (p.Gly142Val) n.252-5326G>T | |
7 | g.138739580C>G | CA369370264 | ATP6V0A4 | c.1532G>C (p.Gly511Ala) c.758G>C (p.Gly253Ala) c.425G>C (p.Gly142Ala) n.252-5326G>C | |
7 | g.138739580C>T | CA369370265 | ATP6V0A4 | c.1532G>A (p.Gly511Glu) c.758G>A (p.Gly253Glu) c.425G>A (p.Gly142Glu) n.252-5326G>A | |
7 | g.138739581del | CA2685127909 | ATP6V0A4 | c.1532del (p.Gly511GlufsTer26) c.758del (p.Gly253GlufsTer26) c.425del (p.Gly142GlufsTer26) n.252-5326del | gnomAD v4 |
7 | g.138739581C>A | CA369370266 | ATP6V0A4 | c.1531G>T (p.Gly511Ter) c.757G>T (p.Gly253Ter) c.424G>T (p.Gly142Ter) n.252-5327G>T | gnomAD v4 |
7 | g.138739581C>G | CA369370267 | ATP6V0A4 | c.1531G>C (p.Gly511Arg) c.757G>C (p.Gly253Arg) c.424G>C (p.Gly142Arg) n.252-5327G>C | |
7 | g.138739581C>T | CA369370268 | ATP6V0A4 | c.1531G>A (p.Gly511Arg) c.757G>A (p.Gly253Arg) c.424G>A (p.Gly142Arg) n.252-5327G>A | |
7 | g.138739582del | CA2685127912 | ATP6V0A4 | c.1530del (p.Gly511GlufsTer26) c.756del (p.Gly253GlufsTer26) c.423del (p.Gly142GlufsTer26) n.252-5328del | gnomAD v4 |
7 | g.138739582T>A | CA457938050 | ATP6V0A4 | c.1530A>T (p.Pro510=) c.756A>T (p.Pro252=) c.423A>T (p.Pro141=) n.252-5328A>T | |
7 | g.138739582T>C | CA457938051 | ATP6V0A4 | c.1530A>G (p.Pro510=) c.756A>G (p.Pro252=) c.423A>G (p.Pro141=) n.252-5328A>G | |
7 | g.138739582T>G | CA457938052 | ATP6V0A4 | c.1530A>C (p.Pro510=) c.756A>C (p.Pro252=) c.423A>C (p.Pro141=) n.252-5328A>C | |
7 | g.138739582dup | CA2685127910 | ATP6V0A4 | c.1530dup (p.Gly511ArgfsTer13) c.756dup (p.Gly253ArgfsTer13) c.423dup (p.Gly142ArgfsTer13) n.252-5328dup | gnomAD v4 |
7 | g.138739583G>A | CA369370269 | ATP6V0A4 | c.1529C>T (p.Pro510Leu) c.755C>T (p.Pro252Leu) c.422C>T (p.Pro141Leu) n.252-5329C>T | |
7 | g.138739583G>C | CA369370270 | ATP6V0A4 | c.1529C>G (p.Pro510Arg) c.755C>G (p.Pro252Arg) c.422C>G (p.Pro141Arg) n.252-5329C>G | |
7 | g.138739583G>T | CA369370271 | ATP6V0A4 | c.1529C>A (p.Pro510Gln) c.755C>A (p.Pro252Gln) c.422C>A (p.Pro141Gln) n.252-5329C>A | |
7 | g.138739584G>A | CA369370272 | ATP6V0A4 | c.1528C>T (p.Pro510Ser) c.754C>T (p.Pro252Ser) c.421C>T (p.Pro141Ser) n.252-5330C>T | |
7 | g.138739584G>C | CA369370273 | ATP6V0A4 | c.1528C>G (p.Pro510Ala) c.754C>G (p.Pro252Ala) c.421C>G (p.Pro141Ala) n.252-5330C>G | |
7 | g.138739584G= | CA1746780034 | ATP6V0A4 | c.1528C= (p.Pro510=) c.754C= (p.Pro252=) c.421C= (p.Pro141=) n.252-5330C= | |
7 | g.138739584G>T | CA4504742 | ATP6V0A4 | c.1528C>A (p.Pro510Thr) c.754C>A (p.Pro252Thr) c.421C>A (p.Pro141Thr) n.252-5330C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.138739585T>A | CA457938053 | ATP6V0A4 | c.1527A>T (p.Ile509=) c.753A>T (p.Ile251=) c.420A>T (p.Ile140=) n.252-5331A>T | |
7 | g.138739585T>C | CA369370274 | ATP6V0A4 | c.1527A>G (p.Ile509Met) c.753A>G (p.Ile251Met) c.420A>G (p.Ile140Met) n.252-5331A>G | |
7 | g.138739585T>G | CA457938054 | ATP6V0A4 | c.1527A>C (p.Ile509=) c.753A>C (p.Ile251=) c.420A>C (p.Ile140=) n.252-5331A>C | |
7 | g.138739586A>C | CA369370275 | ATP6V0A4 | c.1526T>G (p.Ile509Arg) c.752T>G (p.Ile251Arg) c.419T>G (p.Ile140Arg) n.252-5332T>G | |
7 | g.138739586A>G | CA369370276 | ATP6V0A4 | c.1526T>C (p.Ile509Thr) c.752T>C (p.Ile251Thr) c.419T>C (p.Ile140Thr) n.252-5332T>C | |
7 | g.138739586A>T | CA369370277 | ATP6V0A4 | c.1526T>A (p.Ile509Lys) c.752T>A (p.Ile251Lys) c.419T>A (p.Ile140Lys) n.252-5332T>A | |
7 | g.138739587T>A | CA369370278 | ATP6V0A4 | c.1525A>T (p.Ile509Leu) c.751A>T (p.Ile251Leu) c.418A>T (p.Ile140Leu) n.252-5333A>T | |
7 | g.138739587T>C | CA369370279 | ATP6V0A4 | c.1525A>G (p.Ile509Val) c.751A>G (p.Ile251Val) c.418A>G (p.Ile140Val) n.252-5333A>G | |
7 | g.138739587T>G | CA369370280 | ATP6V0A4 | c.1525A>C (p.Ile509Leu) c.751A>C (p.Ile251Leu) c.418A>C (p.Ile140Leu) n.252-5333A>C | |
7 | g.138739588G>A | CA457938055 | ATP6V0A4 | c.1524C>T (p.Ala508=) c.750C>T (p.Ala250=) c.417C>T (p.Ala139=) n.252-5334C>T | |
7 | g.138739588G>C | CA457938056 | ATP6V0A4 | c.1524C>G (p.Ala508=) c.750C>G (p.Ala250=) c.417C>G (p.Ala139=) n.252-5334C>G | |
7 | g.138739588G>T | CA457938057 | ATP6V0A4 | c.1524C>A (p.Ala508=) c.750C>A (p.Ala250=) c.417C>A (p.Ala139=) n.252-5334C>A | gnomAD v4 |
7 | g.138739589G>A | CA369370281 | ATP6V0A4 | c.1523C>T (p.Ala508Val) c.749C>T (p.Ala250Val) c.416C>T (p.Ala139Val) n.252-5335C>T | |
7 | g.138739589G>C | CA369370282 | ATP6V0A4 | c.1523C>G (p.Ala508Gly) c.749C>G (p.Ala250Gly) c.416C>G (p.Ala139Gly) n.252-5335C>G | |
7 | g.138739589G>T | CA369370283 | ATP6V0A4 | c.1523C>A (p.Ala508Asp) c.749C>A (p.Ala250Asp) c.416C>A (p.Ala139Asp) n.252-5335C>A | |
7 | g.138739590C>A | CA369370284 | ATP6V0A4 | c.1522G>T (p.Ala508Ser) c.748G>T (p.Ala250Ser) c.415G>T (p.Ala139Ser) n.252-5336G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.138739590C= | CA1746780035 | ATP6V0A4 | c.1522G= (p.Ala508=) c.748G= (p.Ala250=) c.415G= (p.Ala139=) n.252-5336G= | |
7 | g.138739590C>G | CA369370285 | ATP6V0A4 | c.1522G>C (p.Ala508Pro) c.748G>C (p.Ala250Pro) c.415G>C (p.Ala139Pro) n.252-5336G>C | |
7 | g.138739590C>T | CA369370286 | ATP6V0A4 | c.1522G>A (p.Ala508Thr) c.748G>A (p.Ala250Thr) c.415G>A (p.Ala139Thr) n.252-5336G>A | |
7 | g.138739591T>A | CA457938058 | ATP6V0A4 | c.1521A>T (p.Pro507=) c.747A>T (p.Pro249=) c.414A>T (p.Pro138=) n.252-5337A>T | |
7 | g.138739591T>C | CA4504743 | ATP6V0A4 | c.1521A>G (p.Pro507=) c.747A>G (p.Pro249=) c.414A>G (p.Pro138=) n.252-5337A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.138739591T>G | CA457938059 | ATP6V0A4 | c.1521A>C (p.Pro507=) c.747A>C (p.Pro249=) c.414A>C (p.Pro138=) n.252-5337A>C | |
7 | g.138739591T= | CA1746780036 | ATP6V0A4 | c.1521A= (p.Pro507=) c.747A= (p.Pro249=) c.414A= (p.Pro138=) n.252-5337A= | |
7 | g.138739592G>A | CA369370287 | ATP6V0A4 | c.1520C>T (p.Pro507Leu) c.746C>T (p.Pro249Leu) c.413C>T (p.Pro138Leu) n.252-5338C>T | |
7 | g.138739592G>C | CA369370289 | ATP6V0A4 | c.1520C>G (p.Pro507Arg) c.746C>G (p.Pro249Arg) c.413C>G (p.Pro138Arg) n.252-5338C>G | |
7 | g.138739592G>T | CA369370288 | ATP6V0A4 | c.1520C>A (p.Pro507Gln) c.746C>A (p.Pro249Gln) c.413C>A (p.Pro138Gln) n.252-5338C>A | |
7 | g.138739593G>A | CA369370290 | ATP6V0A4 | c.1519C>T (p.Pro507Ser) c.745C>T (p.Pro249Ser) c.412C>T (p.Pro138Ser) n.252-5339C>T | gnomAD v4 |
7 | g.138739593G>C | CA369370291 | ATP6V0A4 | c.1519C>G (p.Pro507Ala) c.745C>G (p.Pro249Ala) c.412C>G (p.Pro138Ala) n.252-5339C>G | |
7 | g.138739593G>T | CA369370292 | ATP6V0A4 | c.1519C>A (p.Pro507Thr) c.745C>A (p.Pro249Thr) c.412C>A (p.Pro138Thr) n.252-5339C>A | gnomAD v4 |
7 | g.138739594G>A | CA457938060 | ATP6V0A4 | c.1518C>T (p.Asp506=) c.744C>T (p.Asp248=) c.411C>T (p.Asp137=) n.252-5340C>T | gnomAD v4 |
7 | g.138739594G>C | CA369370293 | ATP6V0A4 | c.1518C>G (p.Asp506Glu) c.744C>G (p.Asp248Glu) c.411C>G (p.Asp137Glu) n.252-5340C>G | |
7 | g.138739594G>T | CA369370294 | ATP6V0A4 | c.1518C>A (p.Asp506Glu) c.744C>A (p.Asp248Glu) c.411C>A (p.Asp137Glu) n.252-5340C>A | |
7 | g.138739595T>A | CA369370295 | ATP6V0A4 | c.1517A>T (p.Asp506Val) c.743A>T (p.Asp248Val) c.410A>T (p.Asp137Val) n.252-5341A>T | gnomAD v4 |
7 | g.138739595T>C | CA369370296 | ATP6V0A4 | c.1517A>G (p.Asp506Gly) c.743A>G (p.Asp248Gly) c.410A>G (p.Asp137Gly) n.252-5341A>G | |
7 | g.138739595T>G | CA369370297 | ATP6V0A4 | c.1517A>C (p.Asp506Ala) c.743A>C (p.Asp248Ala) c.410A>C (p.Asp137Ala) n.252-5341A>C | dbSNP |
7 | g.138739595T= | CA1746780037 | ATP6V0A4 | c.1517A= (p.Asp506=) c.743A= (p.Asp248=) c.410A= (p.Asp137=) n.252-5341A= | |
7 | g.138739596C>A | CA369370298 | ATP6V0A4 | c.1516G>T (p.Asp506Tyr) c.742G>T (p.Asp248Tyr) c.409G>T (p.Asp137Tyr) n.252-5342G>T | |
7 | g.138739596C>G | CA369370299 | ATP6V0A4 | c.1516G>C (p.Asp506His) c.742G>C (p.Asp248His) c.409G>C (p.Asp137His) n.252-5342G>C | gnomAD v4 |
7 | g.138739596C>T | CA369370300 | ATP6V0A4 | c.1516G>A (p.Asp506Asn) c.742G>A (p.Asp248Asn) c.409G>A (p.Asp137Asn) n.252-5342G>A | |
7 | g.138739597C>A | CA457938062 | ATP6V0A4 | c.1515G>T (p.Leu505=) c.741G>T (p.Leu247=) c.408G>T (p.Leu136=) n.252-5343G>T | |
7 | g.138739597C= | CA1746780038 | ATP6V0A4 | c.1515G= (p.Leu505=) c.741G= (p.Leu247=) c.408G= (p.Leu136=) n.252-5343G= | |
7 | g.138739597C>G | CA457938063 | ATP6V0A4 | c.1515G>C (p.Leu505=) c.741G>C (p.Leu247=) c.408G>C (p.Leu136=) n.252-5343G>C | dbSNP |
7 | g.138739597C>T | CA457938064 | ATP6V0A4 | c.1515G>A (p.Leu505=) c.741G>A (p.Leu247=) c.408G>A (p.Leu136=) n.252-5343G>A | |
7 | g.138739598A>C | CA369370303 | ATP6V0A4 | c.1514T>G (p.Leu505Arg) c.740T>G (p.Leu247Arg) c.407T>G (p.Leu136Arg) n.252-5344T>G | |
7 | g.138739598A>G | CA369370302 | ATP6V0A4 | c.1514T>C (p.Leu505Pro) c.740T>C (p.Leu247Pro) c.407T>C (p.Leu136Pro) n.252-5344T>C | |
7 | g.138739598A>T | CA369370301 | ATP6V0A4 | c.1514T>A (p.Leu505Gln) c.740T>A (p.Leu247Gln) c.407T>A (p.Leu136Gln) n.252-5344T>A | |
7 | g.138739599G>A | CA457938065 | ATP6V0A4 | c.1513C>T (p.Leu505=) c.739C>T (p.Leu247=) c.406C>T (p.Leu136=) n.252-5345C>T | gnomAD v4 |
7 | g.138739599G>C | CA369370304 | ATP6V0A4 | c.1513C>G (p.Leu505Val) c.739C>G (p.Leu247Val) c.406C>G (p.Leu136Val) n.252-5345C>G | gnomAD v4 |
7 | g.138739599G>T | CA369370305 | ATP6V0A4 | c.1513C>A (p.Leu505Met) c.739C>A (p.Leu247Met) c.406C>A (p.Leu136Met) n.252-5345C>A | |
7 | g.138739600C>A | CA369370306 | ATP6V0A4 | c.1512G>T (p.Gln504His) c.738G>T (p.Gln246His) c.405G>T (p.Gln135His) n.252-5346G>T | |
7 | g.138739600C>G | CA369370307 | ATP6V0A4 | c.1512G>C (p.Gln504His) c.738G>C (p.Gln246His) c.405G>C (p.Gln135His) n.252-5346G>C | |
7 | g.138739600C>T | CA457938066 | ATP6V0A4 | c.1512G>A (p.Gln504=) c.738G>A (p.Gln246=) c.405G>A (p.Gln135=) n.252-5346G>A | |
7 | g.138739601T>A | CA369370308 | ATP6V0A4 | c.1511A>T (p.Gln504Leu) c.737A>T (p.Gln246Leu) c.404A>T (p.Gln135Leu) n.252-5347A>T | |
7 | g.138739601T>C | CA369370309 | ATP6V0A4 | c.1511A>G (p.Gln504Arg) c.737A>G (p.Gln246Arg) c.404A>G (p.Gln135Arg) n.252-5347A>G | |
7 | g.138739601T>G | CA369370310 | ATP6V0A4 | c.1511A>C (p.Gln504Pro) c.737A>C (p.Gln246Pro) c.404A>C (p.Gln135Pro) n.252-5347A>C | |
7 | g.138739602G>A | CA369370311 | ATP6V0A4 | c.1510C>T (p.Gln504Ter) c.736C>T (p.Gln246Ter) c.403C>T (p.Gln135Ter) n.252-5348C>T | ClinVar |
7 | g.138739602G>C | CA369370312 | ATP6V0A4 | c.1510C>G (p.Gln504Glu) c.736C>G (p.Gln246Glu) c.403C>G (p.Gln135Glu) n.252-5348C>G | |
7 | g.138739602G>T | CA369370313 | ATP6V0A4 | c.1510C>A (p.Gln504Lys) c.736C>A (p.Gln246Lys) c.403C>A (p.Gln135Lys) n.252-5348C>A | |
7 | g.138739603C>A | CA457938069 | ATP6V0A4 | c.1509G>T (p.Leu503=) c.735G>T (p.Leu245=) c.402G>T (p.Leu134=) n.252-5349G>T | |
7 | g.138739603C= | CA1746780039 | ATP6V0A4 | c.1509G= (p.Leu503=) c.735G= (p.Leu245=) c.402G= (p.Leu134=) n.252-5349G= | |
7 | g.138739603C>G | CA457938068 | ATP6V0A4 | c.1509G>C (p.Leu503=) c.735G>C (p.Leu245=) c.402G>C (p.Leu134=) n.252-5349G>C | |
7 | g.138739603C>T | CA457938067 | ATP6V0A4 | c.1509G>A (p.Leu503=) c.735G>A (p.Leu245=) c.402G>A (p.Leu134=) n.252-5349G>A | dbSNP gnomAD v4 |
7 | g.138739604A>C | CA369370314 | ATP6V0A4 | c.1508T>G (p.Leu503Arg) c.734T>G (p.Leu245Arg) c.401T>G (p.Leu134Arg) n.252-5350T>G | |
7 | g.138739604A>G | CA369370315 | ATP6V0A4 | c.1508T>C (p.Leu503Pro) c.734T>C (p.Leu245Pro) c.401T>C (p.Leu134Pro) n.252-5350T>C | |
7 | g.138739604A>T | CA369370316 | ATP6V0A4 | c.1508T>A (p.Leu503Gln) c.734T>A (p.Leu245Gln) c.401T>A (p.Leu134Gln) n.252-5350T>A | |
7 | g.138739605G>A | CA457938070 | ATP6V0A4 | c.1507C>T (p.Leu503=) c.733C>T (p.Leu245=) c.400C>T (p.Leu134=) n.252-5351C>T | |
7 | g.138739605G>C | CA369370318 | ATP6V0A4 | c.1507C>G (p.Leu503Val) c.733C>G (p.Leu245Val) c.400C>G (p.Leu134Val) n.252-5351C>G | |
7 | g.138739605G>T | CA369370317 | ATP6V0A4 | c.1507C>A (p.Leu503Met) c.733C>A (p.Leu245Met) c.400C>A (p.Leu134Met) n.252-5351C>A | |
7 | g.138739606A= | CA1746780040 | ATP6V0A4 | c.1506T= (p.Tyr502=) c.732T= (p.Tyr244=) c.399T= (p.Tyr133=) n.252-5352T= | |
7 | g.138739606A>C | CA369370319 | ATP6V0A4 | c.1506T>G (p.Tyr502Ter) c.732T>G (p.Tyr244Ter) c.399T>G (p.Tyr133Ter) n.252-5352T>G | |
7 | g.138739606A>G | CA457938071 | ATP6V0A4 | c.1506T>C (p.Tyr502=) c.732T>C (p.Tyr244=) c.399T>C (p.Tyr133=) n.252-5352T>C | |
7 | g.138739606A>T | CA117296 | ATP6V0A4 | c.1506T>A (p.Tyr502Ter) c.732T>A (p.Tyr244Ter) c.399T>A (p.Tyr133Ter) n.252-5352T>A | ClinVar dbSNP |
7 | g.138739607T>A | CA369370320 | ATP6V0A4 | c.1505A>T (p.Tyr502Phe) c.731A>T (p.Tyr244Phe) c.398A>T (p.Tyr133Phe) n.252-5353A>T | |
7 | g.138739607T>C | CA369370321 | ATP6V0A4 | c.1505A>G (p.Tyr502Cys) c.731A>G (p.Tyr244Cys) c.398A>G (p.Tyr133Cys) n.252-5353A>G | |
7 | g.138739607T>G | CA369370322 | ATP6V0A4 | c.1505A>C (p.Tyr502Ser) c.731A>C (p.Tyr244Ser) c.398A>C (p.Tyr133Ser) n.252-5353A>C | |
7 | g.138739608A>C | CA369370323 | ATP6V0A4 | c.1504T>G (p.Tyr502Asp) c.730T>G (p.Tyr244Asp) c.397T>G (p.Tyr133Asp) n.252-5354T>G | |
7 | g.138739608A>G | CA369370324 | ATP6V0A4 | c.1504T>C (p.Tyr502His) c.730T>C (p.Tyr244His) c.397T>C (p.Tyr133His) n.252-5354T>C | |
7 | g.138739608A>T | CA369370325 | ATP6V0A4 | c.1504T>A (p.Tyr502Asn) c.730T>A (p.Tyr244Asn) c.397T>A (p.Tyr133Asn) n.252-5354T>A | |
7 | g.138739608dup | CA2695208558 | ATP6V0A4 | c.1504dup (p.Tyr502LeufsTer22) c.730dup (p.Tyr244LeufsTer22) c.397dup (p.Tyr133LeufsTer22) n.252-5354dup |