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