| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.70958103G>A | CA121986 | ATP6V1B1,VAX2 | c.232G>A (p.Gly78Arg) n.398G>A c.436G>A c.268G>A c.-129G>A (n.-129G>A) c.143-9728C>T c.283G>A (p.Gly95Arg) n.333G>A c.476-15670C>T (n.476-15670C>T) c.352G>A (p.Gly118Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.70958103G>C | CA347180705 | ATP6V1B1,VAX2 | c.232G>C (p.Gly78Arg) n.398G>C c.436G>C c.268G>C c.-129G>C (n.-129G>C) c.143-9728C>G c.283G>C (p.Gly95Arg) n.333G>C c.476-15670C>G (n.476-15670C>G) c.352G>C (p.Gly118Arg) | |
| 2 | g.70958103G= | CA1259810650 | ATP6V1B1,VAX2 | c.232G= (p.Gly78=) n.398G= c.436G= c.268G= c.-129G= (n.-129G=) c.143-9728C= c.283G= (p.Gly95=) n.333G= c.476-15670C= (n.476-15670C=) c.352G= (p.Gly118=) | |
| 2 | g.70958103G>T | CA347180704 | ATP6V1B1,VAX2 | c.232G>T (p.Gly78Trp) n.398G>T c.436G>T c.268G>T c.-129G>T (n.-129G>T) c.143-9728C>A c.283G>T (p.Gly95Trp) n.333G>T c.476-15670C>A (n.476-15670C>A) c.352G>T (p.Gly118Trp) | |
| 2 | g.70958104G>A | CA347180707 | ATP6V1B1,VAX2 | c.233G>A (p.Gly78Glu) n.399G>A c.437G>A c.269G>A c.-128G>A (n.-128G>A) c.143-9729C>T c.284G>A (p.Gly95Glu) n.334G>A c.476-15671C>T (n.476-15671C>T) c.353G>A (p.Gly118Glu) | dbSNP |
| 2 | g.70958104G>C | CA347180708 | ATP6V1B1,VAX2 | c.233G>C (p.Gly78Ala) n.399G>C c.437G>C c.269G>C c.-128G>C (n.-128G>C) c.143-9729C>G c.284G>C (p.Gly95Ala) n.334G>C c.476-15671C>G (n.476-15671C>G) c.353G>C (p.Gly118Ala) | |
| 2 | g.70958104G= | CA1259810651 | ATP6V1B1,VAX2 | c.233G= (p.Gly78=) n.399G= c.437G= c.269G= c.-128G= (n.-128G=) c.143-9729C= c.284G= (p.Gly95=) n.334G= c.476-15671C= (n.476-15671C=) c.353G= (p.Gly118=) | |
| 2 | g.70958104G>T | CA347180710 | ATP6V1B1,VAX2 | c.233G>T (p.Gly78Val) n.399G>T c.437G>T c.269G>T c.-128G>T (n.-128G>T) c.143-9729C>A c.284G>T (p.Gly95Val) n.334G>T c.476-15671C>A (n.476-15671C>A) c.353G>T (p.Gly118Val) | |
| 2 | g.70958105G>A | CA1700961 | ATP6V1B1,VAX2 | c.234G>A (p.Gly78=) n.400G>A c.438G>A c.270G>A c.-127G>A (n.-127G>A) c.143-9730C>T c.285G>A (p.Gly95=) n.335G>A c.476-15672C>T (n.476-15672C>T) c.354G>A (p.Gly118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.70958105G>C | CA426692562 | ATP6V1B1,VAX2 | c.234G>C (p.Gly78=) n.400G>C c.438G>C c.270G>C c.-127G>C (n.-127G>C) c.143-9730C>G c.285G>C (p.Gly95=) n.335G>C c.476-15672C>G (n.476-15672C>G) c.354G>C (p.Gly118=) | |
| 2 | g.70958105G= | CA1259810652 | ATP6V1B1,VAX2 | c.234G= (p.Gly78=) n.400G= c.438G= c.270G= c.-127G= (n.-127G=) c.143-9730C= c.285G= (p.Gly95=) n.335G= c.476-15672C= (n.476-15672C=) c.354G= (p.Gly118=) | |
| 2 | g.70958105G>T | CA426692560 | ATP6V1B1,VAX2 | c.234G>T (p.Gly78=) n.400G>T c.438G>T c.270G>T c.-127G>T (n.-127G>T) c.143-9730C>A c.285G>T (p.Gly95=) n.335G>T c.476-15672C>A (n.476-15672C>A) c.354G>T (p.Gly118=) | gnomAD v4 |
| 2 | g.70958105_70958106delinsGC | CA1259810653 | ATP6V1B1,VAX2 | c.234_235delinsGC (p.Gly78=) n.400_401delinsGC c.438_439delinsGC c.270_271delinsGC c.-127_-126delinsGC (n.-127_-126delinsGC) c.143-9731_143-9730delinsGC c.285_286delinsGC (p.Gly95=) n.335_336delinsGC c.476-15673_476-15672delinsGC (n.476-15673_476-15672delinsGC) c.354_355delinsGC (p.Gly118=) | |
| 2 | g.70958106del | CA1259810654 | ATP6V1B1,VAX2 | c.235del (p.Gln79ArgfsTer?) n.401del c.439del c.271del c.-126del (n.-126del) c.143-9731del c.286del (p.Gln96ArgfsTer?) n.336del c.476-15673del (n.476-15673del) c.355del (p.Gln119ArgfsTer?) | dbSNP |
| 2 | g.70958106C>A | CA1700962 | ATP6V1B1,VAX2 | c.235C>A (p.Gln79Lys) n.401C>A c.439C>A c.271C>A c.-126C>A (n.-126C>A) c.143-9731G>T c.286C>A (p.Gln96Lys) n.336C>A c.476-15673G>T (n.476-15673G>T) c.355C>A (p.Gln119Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.70958106C= | CA1259810655 | ATP6V1B1,VAX2 | c.235C= (p.Gln79=) n.401C= c.439C= c.271C= c.-126C= (n.-126C=) c.143-9731G= c.286C= (p.Gln96=) n.336C= c.476-15673G= (n.476-15673G=) c.355C= (p.Gln119=) | |
| 2 | g.70958106C>G | CA347180711 | ATP6V1B1,VAX2 | c.235C>G (p.Gln79Glu) n.401C>G c.439C>G c.271C>G c.-126C>G (n.-126C>G) c.143-9731G>C c.286C>G (p.Gln96Glu) n.336C>G c.476-15673G>C (n.476-15673G>C) c.355C>G (p.Gln119Glu) | |
| 2 | g.70958106C>T | CA347180712 | ATP6V1B1,VAX2 | c.235C>T (p.Gln79Ter) n.401C>T c.439C>T c.271C>T c.-126C>T (n.-126C>T) c.143-9731G>A c.286C>T (p.Gln96Ter) n.336C>T c.476-15673G>A (n.476-15673G>A) c.355C>T (p.Gln119Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.70958107A>C | CA347180715 | ATP6V1B1,VAX2 | c.236A>C (p.Gln79Pro) n.402A>C c.440A>C c.272A>C c.-125A>C (n.-125A>C) c.143-9732T>G c.287A>C (p.Gln96Pro) n.337A>C c.476-15674T>G (n.476-15674T>G) c.356A>C (p.Gln119Pro) | |
| 2 | g.70958107A>G | CA347180716 | ATP6V1B1,VAX2 | c.236A>G (p.Gln79Arg) n.402A>G c.440A>G c.272A>G c.-125A>G (n.-125A>G) c.143-9732T>C c.287A>G (p.Gln96Arg) n.337A>G c.476-15674T>C (n.476-15674T>C) c.356A>G (p.Gln119Arg) | |
| 2 | g.70958107A>T | CA347180718 | ATP6V1B1,VAX2 | c.236A>T (p.Gln79Leu) n.402A>T c.440A>T c.272A>T c.-125A>T (n.-125A>T) c.143-9732T>A c.287A>T (p.Gln96Leu) n.337A>T c.476-15674T>A (n.476-15674T>A) c.356A>T (p.Gln119Leu) | |
| 2 | g.70958108G>A | CA426692576 | ATP6V1B1,VAX2 | c.237G>A (p.Gln79=) n.403G>A c.441G>A c.273G>A c.-124G>A (n.-124G>A) c.143-9733C>T c.288G>A (p.Gln96=) n.338G>A c.476-15675C>T (n.476-15675C>T) c.357G>A (p.Gln119=) | gnomAD v4 |
| 2 | g.70958108G>C | CA347180719 | ATP6V1B1,VAX2 | c.237G>C (p.Gln79His) n.403G>C c.441G>C c.273G>C c.-124G>C (n.-124G>C) c.143-9733C>G c.288G>C (p.Gln96His) n.338G>C c.476-15675C>G (n.476-15675C>G) c.357G>C (p.Gln119His) | gnomAD v4 |
| 2 | g.70958108G>T | CA347180721 | ATP6V1B1,VAX2 | c.237G>T (p.Gln79His) n.403G>T c.441G>T c.273G>T c.-124G>T (n.-124G>T) c.143-9733C>A c.288G>T (p.Gln96His) n.338G>T c.476-15675C>A (n.476-15675C>A) c.357G>T (p.Gln119His) | |
| 2 | g.70958109G>A | CA347180725 | ATP6V1B1,VAX2 | c.238G>A (p.Val80Met) n.404G>A c.442G>A c.274G>A c.-123G>A (n.-123G>A) c.143-9734C>T c.289G>A (p.Val97Met) n.339G>A c.476-15676C>T (n.476-15676C>T) c.358G>A (p.Val120Met) | gnomAD v4 |
| 2 | g.70958109G>C | CA347180727 | ATP6V1B1,VAX2 | c.238G>C (p.Val80Leu) n.404G>C c.442G>C c.274G>C c.-123G>C (n.-123G>C) c.143-9734C>G c.289G>C (p.Val97Leu) n.339G>C c.476-15676C>G (n.476-15676C>G) c.358G>C (p.Val120Leu) | gnomAD v4 |
| 2 | g.70958109G>T | CA347180723 | ATP6V1B1,VAX2 | c.238G>T (p.Val80Leu) n.404G>T c.442G>T c.274G>T c.-123G>T (n.-123G>T) c.143-9734C>A c.289G>T (p.Val97Leu) n.339G>T c.476-15676C>A (n.476-15676C>A) c.358G>T (p.Val120Leu) | |
| 2 | g.70958110T>A | CA347180731 | ATP6V1B1,VAX2 | c.239T>A (p.Val80Glu) n.405T>A c.443T>A c.275T>A c.-122T>A (n.-122T>A) c.143-9735A>T c.290T>A (p.Val97Glu) n.340T>A c.476-15677A>T (n.476-15677A>T) c.359T>A (p.Val120Glu) | |
| 2 | g.70958110T>C | CA347180729 | ATP6V1B1,VAX2 | c.239T>C (p.Val80Ala) n.405T>C c.443T>C c.275T>C c.-122T>C (n.-122T>C) c.143-9735A>G c.290T>C (p.Val97Ala) n.340T>C c.476-15677A>G (n.476-15677A>G) c.359T>C (p.Val120Ala) | |
| 2 | g.70958110T>G | CA347180730 | ATP6V1B1,VAX2 | c.239T>G (p.Val80Gly) n.405T>G c.443T>G c.275T>G c.-122T>G (n.-122T>G) c.143-9735A>C c.290T>G (p.Val97Gly) n.340T>G c.476-15677A>C (n.476-15677A>C) c.359T>G (p.Val120Gly) | |
| 2 | g.70958111G>A | CA426692585 | ATP6V1B1,VAX2 | c.240G>A (p.Val80=) n.406G>A c.444G>A c.276G>A c.-121G>A (n.-121G>A) c.143-9736C>T c.291G>A (p.Val97=) n.341G>A c.476-15678C>T (n.476-15678C>T) c.360G>A (p.Val120=) | ClinVar |
| 2 | g.70958111G>C | CA426692586 | ATP6V1B1,VAX2 | c.240G>C (p.Val80=) n.406G>C c.444G>C c.276G>C c.-121G>C (n.-121G>C) c.143-9736C>G c.291G>C (p.Val97=) n.341G>C c.476-15678C>G (n.476-15678C>G) c.360G>C (p.Val120=) | ClinVar dbSNP |
| 2 | g.70958111G>T | CA426692587 | ATP6V1B1,VAX2 | c.240G>T (p.Val80=) n.406G>T c.444G>T c.276G>T c.-121G>T (n.-121G>T) c.143-9736C>A c.291G>T (p.Val97=) n.341G>T c.476-15678C>A (n.476-15678C>A) c.360G>T (p.Val120=) | |
| 2 | g.70958112C>A | CA347180733 | ATP6V1B1,VAX2 | c.241C>A (p.Leu81Ile) n.407C>A c.445C>A c.277C>A c.-120C>A (n.-120C>A) c.143-9737G>T c.292C>A (p.Leu98Ile) n.342C>A c.476-15679G>T (n.476-15679G>T) c.361C>A (p.Leu121Ile) | |
| 2 | g.70958112C>G | CA347180734 | ATP6V1B1,VAX2 | c.241C>G (p.Leu81Val) n.407C>G c.445C>G c.277C>G c.-120C>G (n.-120C>G) c.143-9737G>C c.292C>G (p.Leu98Val) n.342C>G c.476-15679G>C (n.476-15679G>C) c.361C>G (p.Leu121Val) | |
| 2 | g.70958112C>T | CA347180735 | ATP6V1B1,VAX2 | c.241C>T (p.Leu81Phe) n.407C>T c.445C>T c.277C>T c.-120C>T (n.-120C>T) c.143-9737G>A c.292C>T (p.Leu98Phe) n.342C>T c.476-15679G>A (n.476-15679G>A) c.361C>T (p.Leu121Phe) | |
| 2 | g.70958113T>A | CA347180738 | ATP6V1B1,VAX2 | c.242T>A (p.Leu81His) n.408T>A c.446T>A c.278T>A c.-119T>A (n.-119T>A) c.143-9738A>T c.293T>A (p.Leu98His) n.343T>A c.476-15680A>T (n.476-15680A>T) c.362T>A (p.Leu121His) | |
| 2 | g.70958113T>C | CA121985 | ATP6V1B1,VAX2 | c.242T>C (p.Leu81Pro) n.408T>C c.446T>C c.278T>C c.-119T>C (n.-119T>C) c.143-9738A>G c.293T>C (p.Leu98Pro) n.343T>C c.476-15680A>G (n.476-15680A>G) c.362T>C (p.Leu121Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.70958113T>G | CA347180740 | ATP6V1B1,VAX2 | c.242T>G (p.Leu81Arg) n.408T>G c.446T>G c.278T>G c.-119T>G (n.-119T>G) c.143-9738A>C c.293T>G (p.Leu98Arg) n.343T>G c.476-15680A>C (n.476-15680A>C) c.362T>G (p.Leu121Arg) | |
| 2 | g.70958113T= | CA1259810656 | ATP6V1B1,VAX2 | c.242T= (p.Leu81=) n.408T= c.446T= c.278T= c.-119T= (n.-119T=) c.143-9738A= c.293T= (p.Leu98=) n.343T= c.476-15680A= (n.476-15680A=) c.362T= (p.Leu121=) | |
| 2 | g.70958113_70958116dup | CA2573135876 | ATP6V1B1,VAX2 | c.242_245dup (p.Glu82AspfsTer2) n.408_411dup c.446_449dup c.278_281dup c.-119_-116dup (n.-119_-116dup) c.143-9741_143-9738dup c.293_296dup (p.Glu99AspfsTer2) n.343_346dup c.476-15683_476-15680dup (n.476-15683_476-15680dup) c.362_365dup (p.Glu122AspfsTer2) | ClinVar dbSNP |
| 2 | g.70958114T>A | CA426692596 | ATP6V1B1,VAX2 | c.243T>A (p.Leu81=) n.409T>A c.447T>A c.279T>A c.-118T>A (n.-118T>A) c.143-9739A>T c.294T>A (p.Leu98=) n.344T>A c.476-15681A>T (n.476-15681A>T) c.363T>A (p.Leu121=) | |
| 2 | g.70958114T>C | CA426692597 | ATP6V1B1,VAX2 | c.243T>C (p.Leu81=) n.409T>C c.447T>C c.279T>C c.-118T>C (n.-118T>C) c.143-9739A>G c.294T>C (p.Leu98=) n.344T>C c.476-15681A>G (n.476-15681A>G) c.363T>C (p.Leu121=) | |
| 2 | g.70958114T>G | CA426692599 | ATP6V1B1,VAX2 | c.243T>G (p.Leu81=) n.409T>G c.447T>G c.279T>G c.-118T>G (n.-118T>G) c.143-9739A>C c.294T>G (p.Leu98=) n.344T>G c.476-15681A>C (n.476-15681A>C) c.363T>G (p.Leu121=) | |
| 2 | g.70958115G>A | CA347180742 | ATP6V1B1,VAX2 | c.244G>A (p.Glu82Lys) n.410G>A c.448G>A c.280G>A c.-117G>A (n.-117G>A) c.143-9740C>T c.295G>A (p.Glu99Lys) n.345G>A c.476-15682C>T (n.476-15682C>T) c.364G>A (p.Glu122Lys) | |
| 2 | g.70958115G>C | CA347180744 | ATP6V1B1,VAX2 | c.244G>C (p.Glu82Gln) n.410G>C c.448G>C c.280G>C c.-117G>C (n.-117G>C) c.143-9740C>G c.295G>C (p.Glu99Gln) n.345G>C c.476-15682C>G (n.476-15682C>G) c.364G>C (p.Glu122Gln) | |
| 2 | g.70958115G>T | CA347180745 | ATP6V1B1,VAX2 | c.244G>T (p.Glu82Ter) n.410G>T c.448G>T c.280G>T c.-117G>T (n.-117G>T) c.143-9740C>A c.295G>T (p.Glu99Ter) n.345G>T c.476-15682C>A (n.476-15682C>A) c.364G>T (p.Glu122Ter) | |
| 2 | g.70958116del | CA2580067743 | ATP6V1B1,VAX2 | c.245del (p.Glu82GlyfsTer?) n.411del c.449del c.281del c.-116del (n.-116del) c.143-9741del c.296del (p.Glu99GlyfsTer?) n.346del c.476-15683del (n.476-15683del) c.365del (p.Glu122GlyfsTer?) | ClinVar |
| 2 | g.70958116A>C | CA347180748 | ATP6V1B1,VAX2 | c.245A>C (p.Glu82Ala) n.411A>C c.449A>C c.281A>C c.-116A>C (n.-116A>C) c.143-9741T>G c.296A>C (p.Glu99Ala) n.346A>C c.476-15683T>G (n.476-15683T>G) c.365A>C (p.Glu122Ala) | |
| 2 | g.70958116A>G | CA347180749 | ATP6V1B1,VAX2 | c.245A>G (p.Glu82Gly) n.411A>G c.449A>G c.281A>G c.-116A>G (n.-116A>G) c.143-9741T>C c.296A>G (p.Glu99Gly) n.346A>G c.476-15683T>C (n.476-15683T>C) c.365A>G (p.Glu122Gly) |