Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.70964964_70964973delinsACGAGAACCGCA1259813777ATP6V1B1,VAX2c.1385_1394delinsACGAGAACCG (p.Tyr462=)
c.1438_1447delinsACGAGAACCG
c.317_326delinsACGAGAACCG (p.Tyr106=)
c.1334_1343delinsACGAGAACCG (p.Tyr445=)
c.*663_*672delinsACGAGAACCG (n.*663_*672delinsACGAGAACCG)
c.200_209delinsACGAGAACCG (p.Tyr67=)
c.143-16598_143-16589delinsCGGTTCTCGT
c.476-22540_476-22531delinsCGGTTCTCGT (n.476-22540_476-22531delinsCGGTTCTCGT)
c.1505_1514delinsACGAGAACCG (p.Tyr502=)
2g.70964966_70964974delCA1259813778ATP6V1B1,VAX2c.1387_1395del (p.Glu463_Arg465del)
c.1440_1448del
c.319_327del (p.Glu107_Arg109del)
c.1336_1344del (p.Glu446_Arg448del)
c.*665_*673del (n.*665_*673del)
c.202_210del (p.Glu68_Arg70del)
c.143-16598_143-16590del
c.476-22540_476-22532del (n.476-22540_476-22532del)
c.1507_1515del (p.Glu503_Arg505del)
 dbSNP
2g.70964970_70964973dupCA533654907ATP6V1B1,VAX2c.1391_1394dup (p.Ser466ProfsTer?)
c.1444_1447dup
c.323_326dup (p.Ser110ProfsTer?)
c.1340_1343dup (p.Ser449ProfsTer?)
c.*669_*672dup (n.*669_*672dup)
c.206_209dup (p.Ser71ProfsTer?)
c.143-16598_143-16595dup
c.476-22540_476-22537dup (n.476-22540_476-22537dup)
c.1511_1514dup (p.Ser506ProfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.70964970_70964974dupCA2659507864ATP6V1B1,VAX2c.1391_1395dup (p.Ser466ThrfsTer23)
c.1444_1448dup
c.323_327dup (p.Ser110ThrfsTer23)
c.1340_1344dup (p.Ser449ThrfsTer23)
c.*669_*673dup (n.*669_*673dup)
c.206_210dup (p.Ser71ThrfsTer23)
c.143-16599_143-16595dup
c.476-22541_476-22537dup (n.476-22541_476-22537dup)
c.1511_1515dup (p.Ser506ThrfsTer23)
 gnomAD v4
2g.70964971_70964999delCA2659507868ATP6V1B1,VAX2c.1392_1420del (p.Asn464LysfsTer?)
c.1445_1473del
c.324_352del (p.Asn108LysfsTer?)
c.1341_1369del (p.Asn447LysfsTer?)
c.*670_*698del (n.*670_*698del)
c.207_235del (p.Asn69LysfsTer?)
c.143-16624_143-16596del
c.476-22566_476-22538del (n.476-22566_476-22538del)
c.1512_1540del (p.Asn504LysfsTer?)
 gnomAD v4
2g.70964974_70964977dupCA2659507874ATP6V1B1,VAX2c.1395_1398dup (p.Val467LeufsTer?)
c.1448_1451dup
c.327_330dup (p.Val111LeufsTer?)
c.1344_1347dup (p.Val450LeufsTer?)
c.*673_*676dup (n.*673_*676dup)
c.210_213dup (p.Val72LeufsTer?)
c.143-16600_143-16597dup
c.476-22542_476-22539dup (n.476-22542_476-22539dup)
c.1515_1518dup (p.Val507LeufsTer?)
 gnomAD v4
2g.70964973G>ACA182049ATP6V1B1,VAX2c.1394G>A (p.Arg465His)
c.1447G>A
c.326G>A (p.Arg109His)
c.1343G>A (p.Arg448His)
c.*672G>A (n.*672G>A)
c.209G>A (p.Arg70His)
c.143-16598C>T
c.476-22540C>T (n.476-22540C>T)
c.1514G>A (p.Arg505His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70964973G>CCA347189295ATP6V1B1,VAX2c.1394G>C (p.Arg465Pro)
c.1447G>C
c.326G>C (p.Arg109Pro)
c.1343G>C (p.Arg448Pro)
c.*672G>C (n.*672G>C)
c.209G>C (p.Arg70Pro)
c.143-16598C>G
c.476-22540C>G (n.476-22540C>G)
c.1514G>C (p.Arg505Pro)
 ClinVar
2g.70964973G=CA1259813782ATP6V1B1,VAX2c.1394G= (p.Arg465=)
c.1447G=
c.326G= (p.Arg109=)
c.1343G= (p.Arg448=)
c.*672G= (n.*672G=)
c.209G= (p.Arg70=)
c.143-16598C=
c.476-22540C= (n.476-22540C=)
c.1514G= (p.Arg505=)
2g.70964973G>TCA10577203ATP6V1B1,VAX2c.1394G>T (p.Arg465Leu)
c.1447G>T
c.326G>T (p.Arg109Leu)
c.1343G>T (p.Arg448Leu)
c.*672G>T (n.*672G>T)
c.209G>T (p.Arg70Leu)
c.143-16598C>A
c.476-22540C>A (n.476-22540C>A)
c.1514G>T (p.Arg505Leu)
 ClinVar dbSNP
2g.70964973_70964974insAACA1032036287ATP6V1B1,VAX2c.1394_1395insAA (p.Ser466ThrfsTer22)
c.1447_1448insAA
c.326_327insAA (p.Ser110ThrfsTer22)
c.1343_1344insAA (p.Ser449ThrfsTer22)
c.*672_*673insAA (n.*672_*673insAA)
c.209_210insAA (p.Ser71ThrfsTer22)
c.143-16599_143-16598insTT
c.476-22541_476-22540insTT (n.476-22541_476-22540insTT)
c.1514_1515insAA (p.Ser506ThrfsTer22)
 dbSNP gnomAD v3 gnomAD v4
2g.70964974C>ACA426755955ATP6V1B1,VAX2c.1395C>A (p.Arg465=)
c.1448C>A
c.327C>A (p.Arg109=)
c.1344C>A (p.Arg448=)
c.*673C>A (n.*673C>A)
c.210C>A (p.Arg70=)
c.143-16599G>T
c.476-22541G>T (n.476-22541G>T)
c.1515C>A (p.Arg505=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70964974C=CA1259813783ATP6V1B1,VAX2c.1395C= (p.Arg465=)
c.1448C=
c.327C= (p.Arg109=)
c.1344C= (p.Arg448=)
c.*673C= (n.*673C=)
c.210C= (p.Arg70=)
c.143-16599G=
c.476-22541G= (n.476-22541G=)
c.1515C= (p.Arg505=)
2g.70964974C>GCA426755957ATP6V1B1,VAX2c.1395C>G (p.Arg465=)
c.1448C>G
c.327C>G (p.Arg109=)
c.1344C>G (p.Arg448=)
c.*673C>G (n.*673C>G)
c.210C>G (p.Arg70=)
c.143-16599G>C
c.476-22541G>C (n.476-22541G>C)
c.1515C>G (p.Arg505=)
2g.70964974C>TCA426755956ATP6V1B1,VAX2c.1395C>T (p.Arg465=)
c.1448C>T
c.327C>T (p.Arg109=)
c.1344C>T (p.Arg448=)
c.*673C>T (n.*673C>T)
c.210C>T (p.Arg70=)
c.143-16599G>A
c.476-22541G>A (n.476-22541G>A)
c.1515C>T (p.Arg505=)
 ClinVar
2g.70964975T>ACA347189297ATP6V1B1,VAX2c.1396T>A (p.Ser466Thr)
c.1449T>A
c.328T>A (p.Ser110Thr)
c.1345T>A (p.Ser449Thr)
c.*674T>A (n.*674T>A)
c.211T>A (p.Ser71Thr)
c.143-16600A>T
c.476-22542A>T (n.476-22542A>T)
c.1516T>A (p.Ser506Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.70964975T>CCA347189299ATP6V1B1,VAX2c.1396T>C (p.Ser466Pro)
c.1449T>C
c.328T>C (p.Ser110Pro)
c.1345T>C (p.Ser449Pro)
c.*674T>C (n.*674T>C)
c.211T>C (p.Ser71Pro)
c.143-16600A>G
c.476-22542A>G (n.476-22542A>G)
c.1516T>C (p.Ser506Pro)
 ClinVar
2g.70964975T>GCA347189300ATP6V1B1,VAX2c.1396T>G (p.Ser466Ala)
c.1449T>G
c.328T>G (p.Ser110Ala)
c.1345T>G (p.Ser449Ala)
c.*674T>G (n.*674T>G)
c.211T>G (p.Ser71Ala)
c.143-16600A>C
c.476-22542A>C (n.476-22542A>C)
c.1516T>G (p.Ser506Ala)
2g.70964975T=CA1259813784ATP6V1B1,VAX2c.1396T= (p.Ser466=)
c.1449T=
c.328T= (p.Ser110=)
c.1345T= (p.Ser449=)
c.*674T= (n.*674T=)
c.211T= (p.Ser71=)
c.143-16600A=
c.476-22542A= (n.476-22542A=)
c.1516T= (p.Ser506=)
2g.70964976C>ACA347189304ATP6V1B1,VAX2c.1397C>A (p.Ser466Ter)
c.1450C>A
c.329C>A (p.Ser110Ter)
c.1346C>A (p.Ser449Ter)
c.*675C>A (n.*675C>A)
c.212C>A (p.Ser71Ter)
c.143-16601G>T
c.476-22543G>T (n.476-22543G>T)
c.1517C>A (p.Ser506Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70964976C=CA1259813785ATP6V1B1,VAX2c.1397C= (p.Ser466=)
c.1450C=
c.329C= (p.Ser110=)
c.1346C= (p.Ser449=)
c.*675C= (n.*675C=)
c.212C= (p.Ser71=)
c.143-16601G=
c.476-22543G= (n.476-22543G=)
c.1517C= (p.Ser506=)
2g.70964976C>GCA347189303ATP6V1B1,VAX2c.1397C>G (p.Ser466Trp)
c.1450C>G
c.329C>G (p.Ser110Trp)
c.1346C>G (p.Ser449Trp)
c.*675C>G (n.*675C>G)
c.212C>G (p.Ser71Trp)
c.143-16601G>C
c.476-22543G>C (n.476-22543G>C)
c.1517C>G (p.Ser506Trp)
2g.70964976C>TCA1701357ATP6V1B1,VAX2c.1397C>T (p.Ser466Leu)
c.1450C>T
c.329C>T (p.Ser110Leu)
c.1346C>T (p.Ser449Leu)
c.*675C>T (n.*675C>T)
c.212C>T (p.Ser71Leu)
c.143-16601G>A
c.476-22543G>A (n.476-22543G>A)
c.1517C>T (p.Ser506Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70964977G>ACA426755959ATP6V1B1,VAX2c.1398G>A (p.Ser466=)
c.1451G>A
c.330G>A (p.Ser110=)
c.1347G>A (p.Ser449=)
c.*676G>A (n.*676G>A)
c.213G>A (p.Ser71=)
c.143-16602C>T
c.476-22544C>T (n.476-22544C>T)
c.1518G>A (p.Ser506=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70964977G>CCA1701358ATP6V1B1,VAX2c.1398G>C (p.Ser466=)
c.1451G>C
c.330G>C (p.Ser110=)
c.1347G>C (p.Ser449=)
c.*676G>C (n.*676G>C)
c.213G>C (p.Ser71=)
c.143-16602C>G
c.476-22544C>G (n.476-22544C>G)
c.1518G>C (p.Ser506=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70964977G=CA1259813786ATP6V1B1,VAX2c.1398G= (p.Ser466=)
c.1451G=
c.330G= (p.Ser110=)
c.1347G= (p.Ser449=)
c.*676G= (n.*676G=)
c.213G= (p.Ser71=)
c.143-16602C=
c.476-22544C= (n.476-22544C=)
c.1518G= (p.Ser506=)
2g.70964977G>TCA426755960ATP6V1B1,VAX2c.1398G>T (p.Ser466=)
c.1451G>T
c.330G>T (p.Ser110=)
c.1347G>T (p.Ser449=)
c.*676G>T (n.*676G>T)
c.213G>T (p.Ser71=)
c.143-16602C>A
c.476-22544C>A (n.476-22544C>A)
c.1518G>T (p.Ser506=)
2g.70964978dupCA2558408399ATP6V1B1,VAX2c.1399dup (p.Val467GlyfsTer?)
c.1452dup
c.331dup (p.Val111GlyfsTer?)
c.1348dup (p.Val450GlyfsTer?)
c.*677dup (n.*677dup)
c.214dup (p.Val72GlyfsTer?)
c.143-16602dup
c.476-22544dup (n.476-22544dup)
c.1519dup (p.Val507GlyfsTer?)
2g.70964978G>ACA347189306ATP6V1B1,VAX2c.1399G>A (p.Val467Met)
c.1452G>A
c.331G>A (p.Val111Met)
c.1348G>A (p.Val450Met)
c.*677G>A (n.*677G>A)
c.214G>A (p.Val72Met)
c.143-16603C>T
c.476-22545C>T (n.476-22545C>T)
c.1519G>A (p.Val507Met)
2g.70964978G>CCA347189307ATP6V1B1,VAX2c.1399G>C (p.Val467Leu)
c.1452G>C
c.331G>C (p.Val111Leu)
c.1348G>C (p.Val450Leu)
c.*677G>C (n.*677G>C)
c.214G>C (p.Val72Leu)
c.143-16603C>G
c.476-22545C>G (n.476-22545C>G)
c.1519G>C (p.Val507Leu)
2g.70964978G>TCA347189308ATP6V1B1,VAX2c.1399G>T (p.Val467Leu)
c.1452G>T
c.331G>T (p.Val111Leu)
c.1348G>T (p.Val450Leu)
c.*677G>T (n.*677G>T)
c.214G>T (p.Val72Leu)
c.143-16603C>A
c.476-22545C>A (n.476-22545C>A)
c.1519G>T (p.Val507Leu)
2g.70964980_70964981dupCA2580611649ATP6V1B1,VAX2c.1401_1402dup (p.Phe468CysfsTer20)
c.1454_1455dup
c.333_334dup (p.Phe112CysfsTer20)
c.1350_1351dup (p.Phe451CysfsTer20)
c.*679_*680dup (n.*679_*680dup)
c.216_217dup (p.Phe73CysfsTer20)
c.143-16604_143-16603dup
c.476-22546_476-22545dup (n.476-22546_476-22545dup)
c.1521_1522dup (p.Phe508CysfsTer20)
 ClinVar dbSNP
2g.70964979T>ACA347189309ATP6V1B1,VAX2c.1400T>A (p.Val467Glu)
c.1453T>A
c.332T>A (p.Val111Glu)
c.1349T>A (p.Val450Glu)
c.*678T>A (n.*678T>A)
c.215T>A (p.Val72Glu)
c.143-16604A>T
c.476-22546A>T (n.476-22546A>T)
c.1520T>A (p.Val507Glu)
2g.70964979T>CCA347189310ATP6V1B1,VAX2c.1400T>C (p.Val467Ala)
c.1453T>C
c.332T>C (p.Val111Ala)
c.1349T>C (p.Val450Ala)
c.*678T>C (n.*678T>C)
c.215T>C (p.Val72Ala)
c.143-16604A>G
c.476-22546A>G (n.476-22546A>G)
c.1520T>C (p.Val507Ala)
2g.70964979T>GCA347189311ATP6V1B1,VAX2c.1400T>G (p.Val467Gly)
c.1453T>G
c.332T>G (p.Val111Gly)
c.1349T>G (p.Val450Gly)
c.*678T>G (n.*678T>G)
c.215T>G (p.Val72Gly)
c.143-16604A>C
c.476-22546A>C (n.476-22546A>C)
c.1520T>G (p.Val507Gly)
2g.70964980G>ACA426755966ATP6V1B1,VAX2c.1401G>A (p.Val467=)
c.1454G>A
c.333G>A (p.Val111=)
c.1350G>A (p.Val450=)
c.*679G>A (n.*679G>A)
c.216G>A (p.Val72=)
c.143-16605C>T
c.476-22547C>T (n.476-22547C>T)
c.1521G>A (p.Val507=)
2g.70964980G>CCA426755968ATP6V1B1,VAX2c.1401G>C (p.Val467=)
c.1454G>C
c.333G>C (p.Val111=)
c.1350G>C (p.Val450=)
c.*679G>C (n.*679G>C)
c.216G>C (p.Val72=)
c.143-16605C>G
c.476-22547C>G (n.476-22547C>G)
c.1521G>C (p.Val507=)
2g.70964980G>TCA426755969ATP6V1B1,VAX2c.1401G>T (p.Val467=)
c.1454G>T
c.333G>T (p.Val111=)
c.1350G>T (p.Val450=)
c.*679G>T (n.*679G>T)
c.216G>T (p.Val72=)
c.143-16605C>A
c.476-22547C>A (n.476-22547C>A)
c.1521G>T (p.Val507=)
2g.70964981T>ACA347189312ATP6V1B1,VAX2c.1402T>A (p.Phe468Ile)
c.1455T>A
c.334T>A (p.Phe112Ile)
c.1351T>A (p.Phe451Ile)
c.*680T>A (n.*680T>A)
c.217T>A (p.Phe73Ile)
c.143-16606A>T
c.476-22548A>T (n.476-22548A>T)
c.1522T>A (p.Phe508Ile)
 gnomAD v4
2g.70964981T>CCA347189314ATP6V1B1,VAX2c.1402T>C (p.Phe468Leu)
c.1455T>C
c.334T>C (p.Phe112Leu)
c.1351T>C (p.Phe451Leu)
c.*680T>C (n.*680T>C)
c.217T>C (p.Phe73Leu)
c.143-16606A>G
c.476-22548A>G (n.476-22548A>G)
c.1522T>C (p.Phe508Leu)
2g.70964981T>GCA347189315ATP6V1B1,VAX2c.1402T>G (p.Phe468Val)
c.1455T>G
c.334T>G (p.Phe112Val)
c.1351T>G (p.Phe451Val)
c.*680T>G (n.*680T>G)
c.217T>G (p.Phe73Val)
c.143-16606A>C
c.476-22548A>C (n.476-22548A>C)
c.1522T>G (p.Phe508Val)
2g.70964982T>ACA347189317ATP6V1B1,VAX2c.1403T>A (p.Phe468Tyr)
c.1456T>A
c.335T>A (p.Phe112Tyr)
c.1352T>A (p.Phe451Tyr)
c.*681T>A (n.*681T>A)
c.218T>A (p.Phe73Tyr)
c.143-16607A>T
c.476-22549A>T (n.476-22549A>T)
c.1523T>A (p.Phe508Tyr)
2g.70964982T>CCA347189319ATP6V1B1,VAX2c.1403T>C (p.Phe468Ser)
c.1456T>C
c.335T>C (p.Phe112Ser)
c.1352T>C (p.Phe451Ser)
c.*681T>C (n.*681T>C)
c.218T>C (p.Phe73Ser)
c.143-16607A>G
c.476-22549A>G (n.476-22549A>G)
c.1523T>C (p.Phe508Ser)
2g.70964982T>GCA347189320ATP6V1B1,VAX2c.1403T>G (p.Phe468Cys)
c.1456T>G
c.335T>G (p.Phe112Cys)
c.1352T>G (p.Phe451Cys)
c.*681T>G (n.*681T>G)
c.218T>G (p.Phe73Cys)
c.143-16607A>C
c.476-22549A>C (n.476-22549A>C)
c.1523T>G (p.Phe508Cys)
2g.70964983C>ACA347189325ATP6V1B1,VAX2c.1404C>A (p.Phe468Leu)
c.1457C>A
c.336C>A (p.Phe112Leu)
c.1353C>A (p.Phe451Leu)
c.*682C>A (n.*682C>A)
c.219C>A (p.Phe73Leu)
c.143-16608G>T
c.476-22550G>T (n.476-22550G>T)
c.1524C>A (p.Phe508Leu)
2g.70964983C>GCA347189323ATP6V1B1,VAX2c.1404C>G (p.Phe468Leu)
c.1457C>G
c.336C>G (p.Phe112Leu)
c.1353C>G (p.Phe451Leu)
c.*682C>G (n.*682C>G)
c.219C>G (p.Phe73Leu)
c.143-16608G>C
c.476-22550G>C (n.476-22550G>C)
c.1524C>G (p.Phe508Leu)
2g.70964983C>TCA426755977ATP6V1B1,VAX2c.1404C>T (p.Phe468=)
c.1457C>T
c.336C>T (p.Phe112=)
c.1353C>T (p.Phe451=)
c.*682C>T (n.*682C>T)
c.219C>T (p.Phe73=)
c.143-16608G>A
c.476-22550G>A (n.476-22550G>A)
c.1524C>T (p.Phe508=)
 ClinVar dbSNP COSMIC
2g.70964984G>ACA49704173ATP6V1B1,VAX2c.1405G>A (p.Glu469Lys)
c.1458G>A
c.337G>A (p.Glu113Lys)
c.1354G>A (p.Glu452Lys)
c.*683G>A (n.*683G>A)
c.220G>A (p.Glu74Lys)
c.143-16609C>T
c.476-22551C>T (n.476-22551C>T)
c.1525G>A (p.Glu509Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70964984G>CCA347189327ATP6V1B1,VAX2c.1405G>C (p.Glu469Gln)
c.1458G>C
c.337G>C (p.Glu113Gln)
c.1354G>C (p.Glu452Gln)
c.*683G>C (n.*683G>C)
c.220G>C (p.Glu74Gln)
c.143-16609C>G
c.476-22551C>G (n.476-22551C>G)
c.1525G>C (p.Glu509Gln)
 ClinVar gnomAD v4
2g.70964984G=CA1259813787ATP6V1B1,VAX2c.1405G= (p.Glu469=)
c.1458G=
c.337G= (p.Glu113=)
c.1354G= (p.Glu452=)
c.*683G= (n.*683G=)
c.220G= (p.Glu74=)
c.143-16609C=
c.476-22551C= (n.476-22551C=)
c.1525G= (p.Glu509=)
2g.70964984G>TCA347189329ATP6V1B1,VAX2c.1405G>T (p.Glu469Ter)
c.1458G>T
c.337G>T (p.Glu113Ter)
c.1354G>T (p.Glu452Ter)
c.*683G>T (n.*683G>T)
c.220G>T (p.Glu74Ter)
c.143-16609C>A
c.476-22551C>A (n.476-22551C>A)
c.1525G>T (p.Glu509Ter)
 COSMIC
2g.70964985A>CCA347189330ATP6V1B1,VAX2c.1406A>C (p.Glu469Ala)
c.1459A>C
c.338A>C (p.Glu113Ala)
c.1355A>C (p.Glu452Ala)
c.*684A>C (n.*684A>C)
c.221A>C (p.Glu74Ala)
c.143-16610T>G
c.476-22552T>G (n.476-22552T>G)
c.1526A>C (p.Glu509Ala)
2g.70964985A>GCA347189332ATP6V1B1,VAX2c.1406A>G (p.Glu469Gly)
c.1459A>G
c.338A>G (p.Glu113Gly)
c.1355A>G (p.Glu452Gly)
c.*684A>G (n.*684A>G)
c.221A>G (p.Glu74Gly)
c.143-16610T>C
c.476-22552T>C (n.476-22552T>C)
c.1526A>G (p.Glu509Gly)
2g.70964985A>TCA347189333ATP6V1B1,VAX2c.1406A>T (p.Glu469Val)
c.1459A>T
c.338A>T (p.Glu113Val)
c.1355A>T (p.Glu452Val)
c.*684A>T (n.*684A>T)
c.221A>T (p.Glu74Val)
c.143-16610T>A
c.476-22552T>A (n.476-22552T>A)
c.1526A>T (p.Glu509Val)
2g.70964986G>ACA426755984ATP6V1B1,VAX2c.1407G>A (p.Glu469=)
c.1460G>A
c.339G>A (p.Glu113=)
c.1356G>A (p.Glu452=)
c.*685G>A (n.*685G>A)
c.222G>A (p.Glu74=)
c.143-16611C>T
c.476-22553C>T (n.476-22553C>T)
c.1527G>A (p.Glu509=)
 ClinVar gnomAD v4
2g.70964986G>CCA347189335ATP6V1B1,VAX2c.1407G>C (p.Glu469Asp)
c.1460G>C
c.339G>C (p.Glu113Asp)
c.1356G>C (p.Glu452Asp)
c.*685G>C (n.*685G>C)
c.222G>C (p.Glu74Asp)
c.143-16611C>G
c.476-22553C>G (n.476-22553C>G)
c.1527G>C (p.Glu509Asp)
2g.70964986G>TCA347189336ATP6V1B1,VAX2c.1407G>T (p.Glu469Asp)
c.1460G>T
c.339G>T (p.Glu113Asp)
c.1356G>T (p.Glu452Asp)
c.*685G>T (n.*685G>T)
c.222G>T (p.Glu74Asp)
c.143-16611C>A
c.476-22553C>A (n.476-22553C>A)
c.1527G>T (p.Glu509Asp)
2g.70964987T>ACA347189337ATP6V1B1,VAX2c.1408T>A (p.Ser470Thr)
c.1461T>A
c.340T>A (p.Ser114Thr)
c.1357T>A (p.Ser453Thr)
c.*686T>A (n.*686T>A)
c.223T>A (p.Ser75Thr)
c.143-16612A>T
c.476-22554A>T (n.476-22554A>T)
c.1528T>A (p.Ser510Thr)
2g.70964987T>CCA347189338ATP6V1B1,VAX2c.1408T>C (p.Ser470Pro)
c.1461T>C
c.340T>C (p.Ser114Pro)
c.1357T>C (p.Ser453Pro)
c.*686T>C (n.*686T>C)
c.223T>C (p.Ser75Pro)
c.143-16612A>G
c.476-22554A>G (n.476-22554A>G)
c.1528T>C (p.Ser510Pro)
 COSMIC
2g.70964987T>GCA347189340ATP6V1B1,VAX2c.1408T>G (p.Ser470Ala)
c.1461T>G
c.340T>G (p.Ser114Ala)
c.1357T>G (p.Ser453Ala)
c.*686T>G (n.*686T>G)
c.223T>G (p.Ser75Ala)
c.143-16612A>C
c.476-22554A>C (n.476-22554A>C)
c.1528T>G (p.Ser510Ala)
2g.70964988C>ACA347189341ATP6V1B1,VAX2c.1409C>A (p.Ser470Ter)
c.1462C>A
c.341C>A (p.Ser114Ter)
c.1358C>A (p.Ser453Ter)
c.*687C>A (n.*687C>A)
c.224C>A (p.Ser75Ter)
c.143-16613G>T
c.476-22555G>T (n.476-22555G>T)
c.1529C>A (p.Ser510Ter)
2g.70964988C>GCA347189343ATP6V1B1,VAX2c.1409C>G (p.Ser470Trp)
c.1462C>G
c.341C>G (p.Ser114Trp)
c.1358C>G (p.Ser453Trp)
c.*687C>G (n.*687C>G)
c.224C>G (p.Ser75Trp)
c.143-16613G>C
c.476-22555G>C (n.476-22555G>C)
c.1529C>G (p.Ser510Trp)
2g.70964988C>TCA347189345ATP6V1B1,VAX2c.1409C>T (p.Ser470Leu)
c.1462C>T
c.341C>T (p.Ser114Leu)
c.1358C>T (p.Ser453Leu)
c.*687C>T (n.*687C>T)
c.224C>T (p.Ser75Leu)
c.143-16613G>A
c.476-22555G>A (n.476-22555G>A)
c.1529C>T (p.Ser510Leu)
2g.70964989G>ACA426755992ATP6V1B1,VAX2c.1410G>A (p.Ser470=)
c.1463G>A
c.342G>A (p.Ser114=)
c.1359G>A (p.Ser453=)
c.*688G>A (n.*688G>A)
c.225G>A (p.Ser75=)
c.143-16614C>T
c.476-22556C>T (n.476-22556C>T)
c.1530G>A (p.Ser510=)
 dbSNP gnomAD v4
2g.70964989G>CCA426755993ATP6V1B1,VAX2c.1410G>C (p.Ser470=)
c.1463G>C
c.342G>C (p.Ser114=)
c.1359G>C (p.Ser453=)
c.*688G>C (n.*688G>C)
c.225G>C (p.Ser75=)
c.143-16614C>G
c.476-22556C>G (n.476-22556C>G)
c.1530G>C (p.Ser510=)
 gnomAD v4
2g.70964989G=CA1259813788ATP6V1B1,VAX2c.1410G= (p.Ser470=)
c.1463G=
c.342G= (p.Ser114=)
c.1359G= (p.Ser453=)
c.*688G= (n.*688G=)
c.225G= (p.Ser75=)
c.143-16614C=
c.476-22556C= (n.476-22556C=)
c.1530G= (p.Ser510=)
2g.70964989G>TCA1701359ATP6V1B1,VAX2c.1410G>T (p.Ser470=)
c.1463G>T
c.342G>T (p.Ser114=)
c.1359G>T (p.Ser453=)
c.*688G>T (n.*688G>T)
c.225G>T (p.Ser75=)
c.143-16614C>A
c.476-22556C>A (n.476-22556C>A)
c.1530G>T (p.Ser510=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.70964990C>ACA347189350ATP6V1B1,VAX2c.1411C>A (p.Leu471Met)
c.1464C>A
c.343C>A (p.Leu115Met)
c.1360C>A (p.Leu454Met)
c.*689C>A (n.*689C>A)
c.226C>A (p.Leu76Met)
c.143-16615G>T
c.476-22557G>T (n.476-22557G>T)
c.1531C>A (p.Leu511Met)
2g.70964990C=CA1259813789ATP6V1B1,VAX2c.1411C= (p.Leu471=)
c.1464C=
c.343C= (p.Leu115=)
c.1360C= (p.Leu454=)
c.*689C= (n.*689C=)
c.226C= (p.Leu76=)
c.143-16615G=
c.476-22557G= (n.476-22557G=)
c.1531C= (p.Leu511=)
2g.70964990C>GCA347189347ATP6V1B1,VAX2c.1411C>G (p.Leu471Val)
c.1464C>G
c.343C>G (p.Leu115Val)
c.1360C>G (p.Leu454Val)
c.*689C>G (n.*689C>G)
c.226C>G (p.Leu76Val)
c.143-16615G>C
c.476-22557G>C (n.476-22557G>C)
c.1531C>G (p.Leu511Val)
2g.70964990C>TCA1701360ATP6V1B1,VAX2c.1411C>T (p.Leu471=)
c.1464C>T
c.343C>T (p.Leu115=)
c.1360C>T (p.Leu454=)
c.*689C>T (n.*689C>T)
c.226C>T (p.Leu76=)
c.143-16615G>A
c.476-22557G>A (n.476-22557G>A)
c.1531C>T (p.Leu511=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.70964991T>ACA347189352ATP6V1B1,VAX2c.1412T>A (p.Leu471Gln)
c.1465T>A
c.344T>A (p.Leu115Gln)
c.1361T>A (p.Leu454Gln)
c.*690T>A (n.*690T>A)
c.227T>A (p.Leu76Gln)
c.143-16616A>T
c.476-22558A>T (n.476-22558A>T)
c.1532T>A (p.Leu511Gln)
2g.70964991T>CCA347189353ATP6V1B1,VAX2c.1412T>C (p.Leu471Pro)
c.1465T>C
c.344T>C (p.Leu115Pro)
c.1361T>C (p.Leu454Pro)
c.*690T>C (n.*690T>C)
c.227T>C (p.Leu76Pro)
c.143-16616A>G
c.476-22558A>G (n.476-22558A>G)
c.1532T>C (p.Leu511Pro)
 gnomAD v4
2g.70964991T>GCA347189355ATP6V1B1,VAX2c.1412T>G (p.Leu471Arg)
c.1465T>G
c.344T>G (p.Leu115Arg)
c.1361T>G (p.Leu454Arg)
c.*690T>G (n.*690T>G)
c.227T>G (p.Leu76Arg)
c.143-16616A>C
c.476-22558A>C (n.476-22558A>C)
c.1532T>G (p.Leu511Arg)
2g.70964992G>ACA1701361ATP6V1B1,VAX2c.1413G>A (p.Leu471=)
c.1466G>A
c.345G>A (p.Leu115=)
c.1362G>A (p.Leu454=)
c.*691G>A (n.*691G>A)
c.228G>A (p.Leu76=)
c.143-16617C>T
c.476-22559C>T (n.476-22559C>T)
c.1533G>A (p.Leu511=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.70964992G>CCA426755997ATP6V1B1,VAX2c.1413G>C (p.Leu471=)
c.1466G>C
c.345G>C (p.Leu115=)
c.1362G>C (p.Leu454=)
c.*691G>C (n.*691G>C)
c.228G>C (p.Leu76=)
c.143-16617C>G
c.476-22559C>G (n.476-22559C>G)
c.1533G>C (p.Leu511=)
2g.70964992G=CA1259813790ATP6V1B1,VAX2c.1413G= (p.Leu471=)
c.1466G=
c.345G= (p.Leu115=)
c.1362G= (p.Leu454=)
c.*691G= (n.*691G=)
c.228G= (p.Leu76=)
c.143-16617C=
c.476-22559C= (n.476-22559C=)
c.1533G= (p.Leu511=)
2g.70964992G>TCA426755998ATP6V1B1,VAX2c.1413G>T (p.Leu471=)
c.1466G>T
c.345G>T (p.Leu115=)
c.1362G>T (p.Leu454=)
c.*691G>T (n.*691G>T)
c.228G>T (p.Leu76=)
c.143-16617C>A
c.476-22559C>A (n.476-22559C>A)
c.1533G>T (p.Leu511=)
2g.70964993G>ACA347189357ATP6V1B1,VAX2c.1414G>A (p.Asp472Asn)
c.1467G>A
c.346G>A (p.Asp116Asn)
c.1363G>A (p.Asp455Asn)
c.*692G>A (n.*692G>A)
c.229G>A (p.Asp77Asn)
c.143-16618C>T
c.476-22560C>T (n.476-22560C>T)
c.1534G>A (p.Asp512Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.70964993G>CCA347189358ATP6V1B1,VAX2c.1414G>C (p.Asp472His)
c.1467G>C
c.346G>C (p.Asp116His)
c.1363G>C (p.Asp455His)
c.*692G>C (n.*692G>C)
c.229G>C (p.Asp77His)
c.143-16618C>G
c.476-22560C>G (n.476-22560C>G)
c.1534G>C (p.Asp512His)
2g.70964993G=CA1259813791ATP6V1B1,VAX2c.1414G= (p.Asp472=)
c.1467G=
c.346G= (p.Asp116=)
c.1363G= (p.Asp455=)
c.*692G= (n.*692G=)
c.229G= (p.Asp77=)
c.143-16618C=
c.476-22560C= (n.476-22560C=)
c.1534G= (p.Asp512=)
2g.70964993G>TCA347189359ATP6V1B1,VAX2c.1414G>T (p.Asp472Tyr)
c.1467G>T
c.346G>T (p.Asp116Tyr)
c.1363G>T (p.Asp455Tyr)
c.*692G>T (n.*692G>T)
c.229G>T (p.Asp77Tyr)
c.143-16618C>A
c.476-22560C>A (n.476-22560C>A)
c.1534G>T (p.Asp512Tyr)
2g.70964994A>CCA347189362ATP6V1B1,VAX2c.1415A>C (p.Asp472Ala)
c.1468A>C
c.347A>C (p.Asp116Ala)
c.1364A>C (p.Asp455Ala)
c.*693A>C (n.*693A>C)
c.230A>C (p.Asp77Ala)
c.143-16619T>G
c.476-22561T>G (n.476-22561T>G)
c.1535A>C (p.Asp512Ala)
2g.70964994A>GCA347189363ATP6V1B1,VAX2c.1415A>G (p.Asp472Gly)
c.1468A>G
c.347A>G (p.Asp116Gly)
c.1364A>G (p.Asp455Gly)
c.*693A>G (n.*693A>G)
c.230A>G (p.Asp77Gly)
c.143-16619T>C
c.476-22561T>C (n.476-22561T>C)
c.1535A>G (p.Asp512Gly)
2g.70964994A>TCA347189366ATP6V1B1,VAX2c.1415A>T (p.Asp472Val)
c.1468A>T
c.347A>T (p.Asp116Val)
c.1364A>T (p.Asp455Val)
c.*693A>T (n.*693A>T)
c.230A>T (p.Asp77Val)
c.143-16619T>A
c.476-22561T>A (n.476-22561T>A)
c.1535A>T (p.Asp512Val)
2g.70964995C>ACA347189368ATP6V1B1,VAX2c.1416C>A (p.Asp472Glu)
c.1469C>A
c.348C>A (p.Asp116Glu)
c.1365C>A (p.Asp455Glu)
c.*694C>A (n.*694C>A)
c.231C>A (p.Asp77Glu)
c.143-16620G>T
c.476-22562G>T (n.476-22562G>T)
c.1536C>A (p.Asp512Glu)
2g.70964995C=CA1259813792ATP6V1B1,VAX2c.1416C= (p.Asp472=)
c.1469C=
c.348C= (p.Asp116=)
c.1365C= (p.Asp455=)
c.*694C= (n.*694C=)
c.231C= (p.Asp77=)
c.143-16620G=
c.476-22562G= (n.476-22562G=)
c.1536C= (p.Asp512=)
2g.70964995C>GCA1701362ATP6V1B1,VAX2c.1416C>G (p.Asp472Glu)
c.1469C>G
c.348C>G (p.Asp116Glu)
c.1365C>G (p.Asp455Glu)
c.*694C>G (n.*694C>G)
c.231C>G (p.Asp77Glu)
c.143-16620G>C
c.476-22562G>C (n.476-22562G>C)
c.1536C>G (p.Asp512Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70964995C>TCA426756003ATP6V1B1,VAX2c.1416C>T (p.Asp472=)
c.1469C>T
c.348C>T (p.Asp116=)
c.1365C>T (p.Asp455=)
c.*694C>T (n.*694C>T)
c.231C>T (p.Asp77=)
c.143-16620G>A
c.476-22562G>A (n.476-22562G>A)
c.1536C>T (p.Asp512=)
2g.70964996C>ACA347189373ATP6V1B1,VAX2c.1417C>A (p.Leu473Met)
c.1470C>A
c.349C>A (p.Leu117Met)
c.1366C>A (p.Leu456Met)
c.*695C>A (n.*695C>A)
c.232C>A (p.Leu78Met)
c.143-16621G>T
c.476-22563G>T (n.476-22563G>T)
c.1537C>A (p.Leu513Met)
2g.70964996C=CA1259813793ATP6V1B1,VAX2c.1417C= (p.Leu473=)
c.1470C=
c.349C= (p.Leu117=)
c.1366C= (p.Leu456=)
c.*695C= (n.*695C=)
c.232C= (p.Leu78=)
c.143-16621G=
c.476-22563G= (n.476-22563G=)
c.1537C= (p.Leu513=)
2g.70964996C>GCA347189371ATP6V1B1,VAX2c.1417C>G (p.Leu473Val)
c.1470C>G
c.349C>G (p.Leu117Val)
c.1366C>G (p.Leu456Val)
c.*695C>G (n.*695C>G)
c.232C>G (p.Leu78Val)
c.143-16621G>C
c.476-22563G>C (n.476-22563G>C)
c.1537C>G (p.Leu513Val)
 dbSNP gnomAD v3 gnomAD v4
2g.70964996C>TCA1701363ATP6V1B1,VAX2c.1417C>T (p.Leu473=)
c.1470C>T
c.349C>T (p.Leu117=)
c.1366C>T (p.Leu456=)
c.*695C>T (n.*695C>T)
c.232C>T (p.Leu78=)
c.143-16621G>A
c.476-22563G>A (n.476-22563G>A)
c.1537C>T (p.Leu513=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70964997T>ACA347189375ATP6V1B1,VAX2c.1418T>A (p.Leu473Gln)
c.1471T>A
c.350T>A (p.Leu117Gln)
c.1367T>A (p.Leu456Gln)
c.*696T>A (n.*696T>A)
c.233T>A (p.Leu78Gln)
c.143-16622A>T
c.476-22564A>T (n.476-22564A>T)
c.1538T>A (p.Leu513Gln)
2g.70964997T>CCA347189376ATP6V1B1,VAX2c.1418T>C (p.Leu473Pro)
c.1471T>C
c.350T>C (p.Leu117Pro)
c.1367T>C (p.Leu456Pro)
c.*696T>C (n.*696T>C)
c.233T>C (p.Leu78Pro)
c.143-16622A>G
c.476-22564A>G (n.476-22564A>G)
c.1538T>C (p.Leu513Pro)
2g.70964997T>GCA347189378ATP6V1B1,VAX2c.1418T>G (p.Leu473Arg)
c.1471T>G
c.350T>G (p.Leu117Arg)
c.1367T>G (p.Leu456Arg)
c.*696T>G (n.*696T>G)
c.233T>G (p.Leu78Arg)
c.143-16622A>C
c.476-22564A>C (n.476-22564A>C)
c.1538T>G (p.Leu513Arg)
2g.70964998G>ACA426756012ATP6V1B1,VAX2c.1419G>A (p.Leu473=)
c.1472G>A
c.351G>A (p.Leu117=)
c.1368G>A (p.Leu456=)
c.*697G>A (n.*697G>A)
c.234G>A (p.Leu78=)
c.143-16623C>T
c.476-22565C>T (n.476-22565C>T)
c.1539G>A (p.Leu513=)
 gnomAD v4
2g.70964998G>CCA426756013ATP6V1B1,VAX2c.1419G>C (p.Leu473=)
c.1472G>C
c.351G>C (p.Leu117=)
c.1368G>C (p.Leu456=)
c.*697G>C (n.*697G>C)
c.234G>C (p.Leu78=)
c.143-16623C>G
c.476-22565C>G (n.476-22565C>G)
c.1539G>C (p.Leu513=)
2g.70964998G>TCA426756014ATP6V1B1,VAX2c.1419G>T (p.Leu473=)
c.1472G>T
c.351G>T (p.Leu117=)
c.1368G>T (p.Leu456=)
c.*697G>T (n.*697G>T)
c.234G>T (p.Leu78=)
c.143-16623C>A
c.476-22565C>A (n.476-22565C>A)
c.1539G>T (p.Leu513=)
2g.70964999G>ACA347189380ATP6V1B1,VAX2c.1420G>A (p.Gly474Ser)
c.1473G>A
c.352G>A (p.Gly118Ser)
c.1369G>A (p.Gly457Ser)
c.*698G>A (n.*698G>A)
c.235G>A (p.Gly79Ser)
c.143-16624C>T
c.476-22566C>T (n.476-22566C>T)
c.1540G>A (p.Gly514Ser)
2g.70964999G>CCA347189381ATP6V1B1,VAX2c.1420G>C (p.Gly474Arg)
c.1473G>C
c.352G>C (p.Gly118Arg)
c.1369G>C (p.Gly457Arg)
c.*698G>C (n.*698G>C)
c.235G>C (p.Gly79Arg)
c.143-16624C>G
c.476-22566C>G (n.476-22566C>G)
c.1540G>C (p.Gly514Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70964999G=CA1259813794ATP6V1B1,VAX2c.1420G= (p.Gly474=)
c.1473G=
c.352G= (p.Gly118=)
c.1369G= (p.Gly457=)
c.*698G= (n.*698G=)
c.235G= (p.Gly79=)
c.143-16624C=
c.476-22566C= (n.476-22566C=)
c.1540G= (p.Gly514=)
2g.70964999G>TCA347189383ATP6V1B1,VAX2c.1420G>T (p.Gly474Cys)
c.1473G>T
c.352G>T (p.Gly118Cys)
c.1369G>T (p.Gly457Cys)
c.*698G>T (n.*698G>T)
c.235G>T (p.Gly79Cys)
c.143-16624C>A
c.476-22566C>A (n.476-22566C>A)
c.1540G>T (p.Gly514Cys)
2g.70965000G>ACA347189384ATP6V1B1,VAX2c.1421G>A (p.Gly474Asp)
c.1474G>A
c.353G>A (p.Gly118Asp)
c.1370G>A (p.Gly457Asp)
c.*699G>A (n.*699G>A)
c.236G>A (p.Gly79Asp)
c.143-16625C>T
c.476-22567C>T (n.476-22567C>T)
c.1541G>A (p.Gly514Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.70965000G>CCA347189386ATP6V1B1,VAX2c.1421G>C (p.Gly474Ala)
c.1474G>C
c.353G>C (p.Gly118Ala)
c.1370G>C (p.Gly457Ala)
c.*699G>C (n.*699G>C)
c.236G>C (p.Gly79Ala)
c.143-16625C>G
c.476-22567C>G (n.476-22567C>G)
c.1541G>C (p.Gly514Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70965000G=CA1259813795ATP6V1B1,VAX2c.1421G= (p.Gly474=)
c.1474G=
c.353G= (p.Gly118=)
c.1370G= (p.Gly457=)
c.*699G= (n.*699G=)
c.236G= (p.Gly79=)
c.143-16625C=
c.476-22567C= (n.476-22567C=)
c.1541G= (p.Gly514=)
2g.70965000G>TCA347189388ATP6V1B1,VAX2c.1421G>T (p.Gly474Val)
c.1474G>T
c.353G>T (p.Gly118Val)
c.1370G>T (p.Gly457Val)
c.*699G>T (n.*699G>T)
c.236G>T (p.Gly79Val)
c.143-16625C>A
c.476-22567C>A (n.476-22567C>A)
c.1541G>T (p.Gly514Val)
2g.70965001C>ACA426756015ATP6V1B1,VAX2c.1422C>A (p.Gly474=)
c.1475C>A
c.354C>A (p.Gly118=)
c.1371C>A (p.Gly457=)
c.*700C>A (n.*700C>A)
c.237C>A (p.Gly79=)
c.143-16626G>T
c.476-22568G>T (n.476-22568G>T)
c.1542C>A (p.Gly514=)
2g.70965001C=CA1259813796ATP6V1B1,VAX2c.1422C= (p.Gly474=)
c.1475C=
c.354C= (p.Gly118=)
c.1371C= (p.Gly457=)
c.*700C= (n.*700C=)
c.237C= (p.Gly79=)
c.143-16626G=
c.476-22568G= (n.476-22568G=)
c.1542C= (p.Gly514=)
2g.70965001C>GCA426756016ATP6V1B1,VAX2c.1422C>G (p.Gly474=)
c.1475C>G
c.354C>G (p.Gly118=)
c.1371C>G (p.Gly457=)
c.*700C>G (n.*700C>G)
c.237C>G (p.Gly79=)
c.143-16626G>C
c.476-22568G>C (n.476-22568G>C)
c.1542C>G (p.Gly514=)
2g.70965001C>TCA426756019ATP6V1B1,VAX2c.1422C>T (p.Gly474=)
c.1475C>T
c.354C>T (p.Gly118=)
c.1371C>T (p.Gly457=)
c.*700C>T (n.*700C>T)
c.237C>T (p.Gly79=)
c.143-16626G>A
c.476-22568G>A (n.476-22568G>A)
c.1542C>T (p.Gly514=)
 dbSNP
2g.70965002T>ACA347189391ATP6V1B1,VAX2c.1423T>A (p.Trp475Arg)
c.1476T>A
c.355T>A (p.Trp119Arg)
c.1372T>A (p.Trp458Arg)
c.*701T>A (n.*701T>A)
c.238T>A (p.Trp80Arg)
c.143-16627A>T
c.476-22569A>T (n.476-22569A>T)
c.1543T>A (p.Trp515Arg)
2g.70965002T>CCA347189393ATP6V1B1,VAX2c.1423T>C (p.Trp475Arg)
c.1476T>C
c.355T>C (p.Trp119Arg)
c.1372T>C (p.Trp458Arg)
c.*701T>C (n.*701T>C)
c.238T>C (p.Trp80Arg)
c.143-16627A>G
c.476-22569A>G (n.476-22569A>G)
c.1543T>C (p.Trp515Arg)
2g.70965002T>GCA347189395ATP6V1B1,VAX2c.1423T>G (p.Trp475Gly)
c.1476T>G
c.355T>G (p.Trp119Gly)
c.1372T>G (p.Trp458Gly)
c.*701T>G (n.*701T>G)
c.238T>G (p.Trp80Gly)
c.143-16627A>C
c.476-22569A>C (n.476-22569A>C)
c.1543T>G (p.Trp515Gly)
2g.70965003G>ACA1701364ATP6V1B1,VAX2c.1424G>A (p.Trp475Ter)
c.1477G>A
c.356G>A (p.Trp119Ter)
c.1373G>A (p.Trp458Ter)
c.*702G>A (n.*702G>A)
c.239G>A (p.Trp80Ter)
c.143-16628C>T
c.476-22570C>T (n.476-22570C>T)
c.1544G>A (p.Trp515Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70965003G>CCA347189399ATP6V1B1,VAX2c.1424G>C (p.Trp475Ser)
c.1477G>C
c.356G>C (p.Trp119Ser)
c.1373G>C (p.Trp458Ser)
c.*702G>C (n.*702G>C)
c.239G>C (p.Trp80Ser)
c.143-16628C>G
c.476-22570C>G (n.476-22570C>G)
c.1544G>C (p.Trp515Ser)
2g.70965003G=CA1259813797ATP6V1B1,VAX2c.1424G= (p.Trp475=)
c.1477G=
c.356G= (p.Trp119=)
c.1373G= (p.Trp458=)
c.*702G= (n.*702G=)
c.239G= (p.Trp80=)
c.143-16628C=
c.476-22570C= (n.476-22570C=)
c.1544G= (p.Trp515=)
2g.70965003G>TCA347189397ATP6V1B1,VAX2c.1424G>T (p.Trp475Leu)
c.1477G>T
c.356G>T (p.Trp119Leu)
c.1373G>T (p.Trp458Leu)
c.*702G>T (n.*702G>T)
c.239G>T (p.Trp80Leu)
c.143-16628C>A
c.476-22570C>A (n.476-22570C>A)
c.1544G>T (p.Trp515Leu)
2g.70965004G>ACA347189405ATP6V1B1,VAX2c.1425G>A (p.Trp475Ter)
c.1478G>A
c.357G>A (p.Trp119Ter)
c.1374G>A (p.Trp458Ter)
c.*703G>A (n.*703G>A)
c.240G>A (p.Trp80Ter)
c.143-16629C>T
c.476-22571C>T (n.476-22571C>T)
c.1545G>A (p.Trp515Ter)
2g.70965004G>CCA347189407ATP6V1B1,VAX2c.1425G>C (p.Trp475Cys)
c.1478G>C
c.357G>C (p.Trp119Cys)
c.1374G>C (p.Trp458Cys)
c.*703G>C (n.*703G>C)
c.240G>C (p.Trp80Cys)
c.143-16629C>G
c.476-22571C>G (n.476-22571C>G)
c.1545G>C (p.Trp515Cys)
2g.70965004G>TCA347189408ATP6V1B1,VAX2c.1425G>T (p.Trp475Cys)
c.1478G>T
c.357G>T (p.Trp119Cys)
c.1374G>T (p.Trp458Cys)
c.*703G>T (n.*703G>T)
c.240G>T (p.Trp80Cys)
c.143-16629C>A
c.476-22571C>A (n.476-22571C>A)
c.1545G>T (p.Trp515Cys)
 gnomAD v4
2g.70965004_70965005delinsGACA1259813798ATP6V1B1,VAX2c.1425_1426delinsGA (p.Trp475=)
c.1478_1479delinsGA
c.357_358delinsGA (p.Trp119=)
c.1374_1375delinsGA (p.Trp458=)
c.*703_*704delinsGA (n.*703_*704delinsGA)
c.240_241delinsGA (p.Trp80=)
c.143-16630_143-16629delinsTC
c.476-22572_476-22571delinsTC (n.476-22572_476-22571delinsTC)
c.1545_1546delinsGA (p.Trp515=)
2g.70965005A>CCA347189411ATP6V1B1,VAX2c.1426A>C (p.Lys476Gln)
c.1479A>C
c.358A>C (p.Lys120Gln)
c.1375A>C (p.Lys459Gln)
c.*704A>C (n.*704A>C)
c.241A>C (p.Lys81Gln)
c.143-16630T>G
c.476-22572T>G (n.476-22572T>G)
c.1546A>C (p.Lys516Gln)
2g.70965005A>GCA347189414ATP6V1B1,VAX2c.1426A>G (p.Lys476Glu)
c.1479A>G
c.358A>G (p.Lys120Glu)
c.1375A>G (p.Lys459Glu)
c.*704A>G (n.*704A>G)
c.241A>G (p.Lys81Glu)
c.143-16630T>C
c.476-22572T>C (n.476-22572T>C)
c.1546A>G (p.Lys516Glu)
2g.70965005A>TCA347189416ATP6V1B1,VAX2c.1426A>T (p.Lys476Ter)
c.1479A>T
c.358A>T (p.Lys120Ter)
c.1375A>T (p.Lys459Ter)
c.*704A>T (n.*704A>T)
c.241A>T (p.Lys81Ter)
c.143-16630T>A
c.476-22572T>A (n.476-22572T>A)
c.1546A>T (p.Lys516Ter)
 gnomAD v4
2g.70965006delCA49704206ATP6V1B1,VAX2c.1427del (p.Lys476SerfsTer11)
c.1480del
c.359del (p.Lys120SerfsTer11)
c.1376del (p.Lys459SerfsTer11)
c.*705del (n.*705del)
c.242del (p.Lys81SerfsTer11)
c.143-16630del
c.476-22572del (n.476-22572del)
c.1547del (p.Lys516SerfsTer11)
 dbSNP gnomAD v4
2g.70965006A=CA1259813799ATP6V1B1,VAX2c.1427A= (p.Lys476=)
c.1480A=
c.359A= (p.Lys120=)
c.1376A= (p.Lys459=)
c.*705A= (n.*705A=)
c.242A= (p.Lys81=)
c.143-16631T=
c.476-22573T= (n.476-22573T=)
c.1547A= (p.Lys516=)
2g.70965006A>CCA347189421ATP6V1B1,VAX2c.1427A>C (p.Lys476Thr)
c.1480A>C
c.359A>C (p.Lys120Thr)
c.1376A>C (p.Lys459Thr)
c.*705A>C (n.*705A>C)
c.242A>C (p.Lys81Thr)
c.143-16631T>G
c.476-22573T>G (n.476-22573T>G)
c.1547A>C (p.Lys516Thr)
2g.70965006A>GCA347189423ATP6V1B1,VAX2c.1427A>G (p.Lys476Arg)
c.1480A>G
c.359A>G (p.Lys120Arg)
c.1376A>G (p.Lys459Arg)
c.*705A>G (n.*705A>G)
c.242A>G (p.Lys81Arg)
c.143-16631T>C
c.476-22573T>C (n.476-22573T>C)
c.1547A>G (p.Lys516Arg)
 dbSNP
2g.70965006A>TCA347189422ATP6V1B1,VAX2c.1427A>T (p.Lys476Met)
c.1480A>T
c.359A>T (p.Lys120Met)
c.1376A>T (p.Lys459Met)
c.*705A>T (n.*705A>T)
c.242A>T (p.Lys81Met)
c.143-16631T>A
c.476-22573T>A (n.476-22573T>A)
c.1547A>T (p.Lys516Met)
2g.70965007G>ACA426756032ATP6V1B1,VAX2c.1428G>A (p.Lys476=)
c.1481G>A
c.360G>A (p.Lys120=)
c.1377G>A (p.Lys459=)
c.*706G>A (n.*706G>A)
c.243G>A (p.Lys81=)
c.143-16632C>T
c.476-22574C>T (n.476-22574C>T)
c.1548G>A (p.Lys516=)
2g.70965007G>CCA347189424ATP6V1B1,VAX2c.1428G>C (p.Lys476Asn)
c.1481G>C
c.360G>C (p.Lys120Asn)
c.1377G>C (p.Lys459Asn)
c.*706G>C (n.*706G>C)
c.243G>C (p.Lys81Asn)
c.143-16632C>G
c.476-22574C>G (n.476-22574C>G)
c.1548G>C (p.Lys516Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.70965007G=CA1259813800ATP6V1B1,VAX2c.1428G= (p.Lys476=)
c.1481G=
c.360G= (p.Lys120=)
c.1377G= (p.Lys459=)
c.*706G= (n.*706G=)
c.243G= (p.Lys81=)
c.143-16632C=
c.476-22574C= (n.476-22574C=)
c.1548G= (p.Lys516=)
2g.70965007G>TCA347189425ATP6V1B1,VAX2c.1428G>T (p.Lys476Asn)
c.1481G>T
c.360G>T (p.Lys120Asn)
c.1377G>T (p.Lys459Asn)
c.*706G>T (n.*706G>T)
c.243G>T (p.Lys81Asn)
c.143-16632C>A
c.476-22574C>A (n.476-22574C>A)
c.1548G>T (p.Lys516Asn)
2g.70965008C>ACA347189426ATP6V1B1,VAX2c.1429C>A (p.Leu477Met)
c.1482C>A
c.361C>A (p.Leu121Met)
c.1378C>A (p.Leu460Met)
c.*707C>A (n.*707C>A)
c.244C>A (p.Leu82Met)
c.143-16633G>T
c.476-22575G>T (n.476-22575G>T)
c.1549C>A (p.Leu517Met)
2g.70965008C>GCA347189427ATP6V1B1,VAX2c.1429C>G (p.Leu477Val)
c.1482C>G
c.361C>G (p.Leu121Val)
c.1378C>G (p.Leu460Val)
c.*707C>G (n.*707C>G)
c.244C>G (p.Leu82Val)
c.143-16633G>C
c.476-22575G>C (n.476-22575G>C)
c.1549C>G (p.Leu517Val)
 gnomAD v4
2g.70965008C>TCA426756036ATP6V1B1,VAX2c.1429C>T (p.Leu477=)
c.1482C>T
c.361C>T (p.Leu121=)
c.1378C>T (p.Leu460=)
c.*707C>T (n.*707C>T)
c.244C>T (p.Leu82=)
c.143-16633G>A
c.476-22575G>A (n.476-22575G>A)
c.1549C>T (p.Leu517=)
2g.70965009T>ACA347189428ATP6V1B1,VAX2c.1430T>A (p.Leu477Gln)
c.1483T>A
c.362T>A (p.Leu121Gln)
c.1379T>A (p.Leu460Gln)
c.*708T>A (n.*708T>A)
c.245T>A (p.Leu82Gln)
c.143-16634A>T
c.476-22576A>T (n.476-22576A>T)
c.1550T>A (p.Leu517Gln)
2g.70965009T>CCA347189431ATP6V1B1,VAX2c.1430T>C (p.Leu477Pro)
c.1483T>C
c.362T>C (p.Leu121Pro)
c.1379T>C (p.Leu460Pro)
c.*708T>C (n.*708T>C)
c.245T>C (p.Leu82Pro)
c.143-16634A>G
c.476-22576A>G (n.476-22576A>G)
c.1550T>C (p.Leu517Pro)
2g.70965009T>GCA347189430ATP6V1B1,VAX2c.1430T>G (p.Leu477Arg)
c.1483T>G
c.362T>G (p.Leu121Arg)
c.1379T>G (p.Leu460Arg)
c.*708T>G (n.*708T>G)
c.245T>G (p.Leu82Arg)
c.143-16634A>C
c.476-22576A>C (n.476-22576A>C)
c.1550T>G (p.Leu517Arg)
2g.70965010G>ACA1701365ATP6V1B1,VAX2c.1431G>A (p.Leu477=)
c.1484G>A
c.363G>A (p.Leu121=)
c.1380G>A (p.Leu460=)
c.*709G>A (n.*709G>A)
c.246G>A (p.Leu82=)
c.143-16635C>T
c.476-22577C>T (n.476-22577C>T)
c.1551G>A (p.Leu517=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70965010G>CCA426756039ATP6V1B1,VAX2c.1431G>C (p.Leu477=)
c.1484G>C
c.363G>C (p.Leu121=)
c.1380G>C (p.Leu460=)
c.*709G>C (n.*709G>C)
c.246G>C (p.Leu82=)
c.143-16635C>G
c.476-22577C>G (n.476-22577C>G)
c.1551G>C (p.Leu517=)
2g.70965010G=CA1259813801ATP6V1B1,VAX2c.1431G= (p.Leu477=)
c.1484G=
c.363G= (p.Leu121=)
c.1380G= (p.Leu460=)
c.*709G= (n.*709G=)
c.246G= (p.Leu82=)
c.143-16635C=
c.476-22577C= (n.476-22577C=)
c.1551G= (p.Leu517=)
2g.70965010G>TCA426756037ATP6V1B1,VAX2c.1431G>T (p.Leu477=)
c.1484G>T
c.363G>T (p.Leu121=)
c.1380G>T (p.Leu460=)
c.*709G>T (n.*709G>T)
c.246G>T (p.Leu82=)
c.143-16635C>A
c.476-22577C>A (n.476-22577C>A)
c.1551G>T (p.Leu517=)
2g.70965011C>ACA347189436ATP6V1B1,VAX2c.1432C>A (p.Leu478Met)
c.1485C>A
c.364C>A (p.Leu122Met)
c.1381C>A (p.Leu461Met)
c.*710C>A (n.*710C>A)
c.247C>A (p.Leu83Met)
c.143-16636G>T
c.476-22578G>T (n.476-22578G>T)
c.1552C>A (p.Leu518Met)
2g.70965011C>GCA347189440ATP6V1B1,VAX2c.1432C>G (p.Leu478Val)
c.1485C>G
c.364C>G (p.Leu122Val)
c.1381C>G (p.Leu461Val)
c.*710C>G (n.*710C>G)
c.247C>G (p.Leu83Val)
c.143-16636G>C
c.476-22578G>C (n.476-22578G>C)
c.1552C>G (p.Leu518Val)
2g.70965011C>TCA426756044ATP6V1B1,VAX2c.1432C>T (p.Leu478=)
c.1485C>T
c.364C>T (p.Leu122=)
c.1381C>T (p.Leu461=)
c.*710C>T (n.*710C>T)
c.247C>T (p.Leu83=)
c.143-16636G>A
c.476-22578G>A (n.476-22578G>A)
c.1552C>T (p.Leu518=)
2g.70965012T>ACA347189444ATP6V1B1,VAX2c.1433T>A (p.Leu478Gln)
c.1486T>A
c.365T>A (p.Leu122Gln)
c.1382T>A (p.Leu461Gln)
c.*711T>A (n.*711T>A)
c.248T>A (p.Leu83Gln)
c.143-16637A>T
c.476-22579A>T (n.476-22579A>T)
c.1553T>A (p.Leu518Gln)
2g.70965012T>CCA347189447ATP6V1B1,VAX2c.1433T>C (p.Leu478Pro)
c.1486T>C
c.365T>C (p.Leu122Pro)
c.1382T>C (p.Leu461Pro)
c.*711T>C (n.*711T>C)
c.248T>C (p.Leu83Pro)
c.143-16637A>G
c.476-22579A>G (n.476-22579A>G)
c.1553T>C (p.Leu518Pro)
2g.70965012T>GCA347189448ATP6V1B1,VAX2c.1433T>G (p.Leu478Arg)
c.1486T>G
c.365T>G (p.Leu122Arg)
c.1382T>G (p.Leu461Arg)
c.*711T>G (n.*711T>G)
c.248T>G (p.Leu83Arg)
c.143-16637A>C
c.476-22579A>C (n.476-22579A>C)
c.1553T>G (p.Leu518Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70965012T=CA1259813802ATP6V1B1,VAX2c.1433T= (p.Leu478=)
c.1486T=
c.365T= (p.Leu122=)
c.1382T= (p.Leu461=)
c.*711T= (n.*711T=)
c.248T= (p.Leu83=)
c.143-16637A=
c.476-22579A= (n.476-22579A=)
c.1553T= (p.Leu518=)
2g.70965013G>ACA426756048ATP6V1B1,VAX2c.1434G>A (p.Leu478=)
c.1487G>A
c.366G>A (p.Leu122=)
c.1383G>A (p.Leu461=)
c.*712G>A (n.*712G>A)
c.249G>A (p.Leu83=)
c.143-16638C>T
c.476-22580C>T (n.476-22580C>T)
c.1554G>A (p.Leu518=)
2g.70965013G>CCA426756051ATP6V1B1,VAX2c.1434G>C (p.Leu478=)
c.1487G>C
c.366G>C (p.Leu122=)
c.1383G>C (p.Leu461=)
c.*712G>C (n.*712G>C)
c.249G>C (p.Leu83=)
c.143-16638C>G
c.476-22580C>G (n.476-22580C>G)
c.1554G>C (p.Leu518=)
2g.70965013G>TCA426756052ATP6V1B1,VAX2c.1434G>T (p.Leu478=)
c.1487G>T
c.366G>T (p.Leu122=)
c.1383G>T (p.Leu461=)
c.*712G>T (n.*712G>T)
c.249G>T (p.Leu83=)
c.143-16638C>A
c.476-22580C>A (n.476-22580C>A)
c.1554G>T (p.Leu518=)
2g.70965014C>ACA347189452ATP6V1B1,VAX2c.1435C>A (p.Arg479Ser)
c.1488C>A
c.367C>A (p.Arg123Ser)
c.1384C>A (p.Arg462Ser)
c.*713C>A (n.*713C>A)
c.250C>A (p.Arg84Ser)
c.143-16639G>T
c.476-22581G>T (n.476-22581G>T)
c.1555C>A (p.Arg519Ser)
2g.70965014C=CA1259813803ATP6V1B1,VAX2c.1435C= (p.Arg479=)
c.1488C=
c.367C= (p.Arg123=)
c.1384C= (p.Arg462=)
c.*713C= (n.*713C=)
c.250C= (p.Arg84=)
c.143-16639G=
c.476-22581G= (n.476-22581G=)
c.1555C= (p.Arg519=)
2g.70965014C>GCA347189454ATP6V1B1,VAX2c.1435C>G (p.Arg479Gly)
c.1488C>G
c.367C>G (p.Arg123Gly)
c.1384C>G (p.Arg462Gly)
c.*713C>G (n.*713C>G)
c.250C>G (p.Arg84Gly)
c.143-16639G>C
c.476-22581G>C (n.476-22581G>C)
c.1555C>G (p.Arg519Gly)
 dbSNP
2g.70965014C>TCA347189456ATP6V1B1,VAX2c.1435C>T (p.Arg479Cys)
c.1488C>T
c.367C>T (p.Arg123Cys)
c.1384C>T (p.Arg462Cys)
c.*713C>T (n.*713C>T)
c.250C>T (p.Arg84Cys)
c.143-16639G>A
c.476-22581G>A (n.476-22581G>A)
c.1555C>T (p.Arg519Cys)
2g.70965015G>ACA347189458ATP6V1B1,VAX2c.1436G>A (p.Arg479His)
c.1489G>A
c.368G>A (p.Arg123His)
c.1385G>A (p.Arg462His)
c.*714G>A (n.*714G>A)
c.251G>A (p.Arg84His)
c.143-16640C>T
c.476-22582C>T (n.476-22582C>T)
c.1556G>A (p.Arg519His)
 ClinVar dbSNP gnomAD v4
2g.70965015G>CCA347189460ATP6V1B1,VAX2c.1436G>C (p.Arg479Pro)
c.1489G>C
c.368G>C (p.Arg123Pro)
c.1385G>C (p.Arg462Pro)
c.*714G>C (n.*714G>C)
c.251G>C (p.Arg84Pro)
c.143-16640C>G
c.476-22582C>G (n.476-22582C>G)
c.1556G>C (p.Arg519Pro)
 gnomAD v4
2g.70965015G=CA1259813804ATP6V1B1,VAX2c.1436G= (p.Arg479=)
c.1489G=
c.368G= (p.Arg123=)
c.1385G= (p.Arg462=)
c.*714G= (n.*714G=)
c.251G= (p.Arg84=)
c.143-16640C=
c.476-22582C= (n.476-22582C=)
c.1556G= (p.Arg519=)
2g.70965015G>TCA347189463ATP6V1B1,VAX2c.1436G>T (p.Arg479Leu)
c.1489G>T
c.368G>T (p.Arg123Leu)
c.1385G>T (p.Arg462Leu)
c.*714G>T (n.*714G>T)
c.251G>T (p.Arg84Leu)
c.143-16640C>A
c.476-22582C>A (n.476-22582C>A)
c.1556G>T (p.Arg519Leu)
2g.70965016C>ACA426756055ATP6V1B1,VAX2c.1437C>A (p.Arg479=)
c.1490C>A
c.369C>A (p.Arg123=)
c.1386C>A (p.Arg462=)
c.*715C>A (n.*715C>A)
c.252C>A (p.Arg84=)
c.143-16641G>T
c.476-22583G>T (n.476-22583G>T)
c.1557C>A (p.Arg519=)
2g.70965016C=CA1259813805ATP6V1B1,VAX2c.1437C= (p.Arg479=)
c.1490C=
c.369C= (p.Arg123=)
c.1386C= (p.Arg462=)
c.*715C= (n.*715C=)
c.252C= (p.Arg84=)
c.143-16641G=
c.476-22583G= (n.476-22583G=)
c.1557C= (p.Arg519=)
2g.70965016C>GCA426756057ATP6V1B1,VAX2c.1437C>G (p.Arg479=)
c.1490C>G
c.369C>G (p.Arg123=)
c.1386C>G (p.Arg462=)
c.*715C>G (n.*715C>G)
c.252C>G (p.Arg84=)
c.143-16641G>C
c.476-22583G>C (n.476-22583G>C)
c.1557C>G (p.Arg519=)
 dbSNP
2g.70965016C>TCA426756058ATP6V1B1,VAX2c.1437C>T (p.Arg479=)
c.1490C>T
c.369C>T (p.Arg123=)
c.1386C>T (p.Arg462=)
c.*715C>T (n.*715C>T)
c.252C>T (p.Arg84=)
c.143-16641G>A
c.476-22583G>A (n.476-22583G>A)
c.1557C>T (p.Arg519=)
 ClinVar dbSNP
2g.70965016dupCA2659507899ATP6V1B1,VAX2c.1437dup (p.Ile480HisfsTer?)
c.1490dup
c.369dup (p.Ile124HisfsTer?)
c.1386dup (p.Ile463HisfsTer?)
c.*715dup (n.*715dup)
c.252dup (p.Ile85HisfsTer?)
c.143-16641dup
c.476-22583dup (n.476-22583dup)
c.1557dup (p.Ile520HisfsTer?)
 gnomAD v4
2g.70965017A=CA1259813806ATP6V1B1,VAX2c.1438A= (p.Ile480=)
c.1491A=
c.370A= (p.Ile124=)
c.1387A= (p.Ile463=)
c.*716A= (n.*716A=)
c.253A= (p.Ile85=)
c.143-16642T=
c.476-22584T= (n.476-22584T=)
c.1558A= (p.Ile520=)
2g.70965017A>CCA347189470ATP6V1B1,VAX2c.1438A>C (p.Ile480Leu)
c.1491A>C
c.370A>C (p.Ile124Leu)
c.1387A>C (p.Ile463Leu)
c.*716A>C (n.*716A>C)
c.253A>C (p.Ile85Leu)
c.143-16642T>G
c.476-22584T>G (n.476-22584T>G)
c.1558A>C (p.Ile520Leu)
2g.70965017A>GCA1701366ATP6V1B1,VAX2c.1438A>G (p.Ile480Val)
c.1491A>G
c.370A>G (p.Ile124Val)
c.1387A>G (p.Ile463Val)
c.*716A>G (n.*716A>G)
c.253A>G (p.Ile85Val)
c.143-16642T>C
c.476-22584T>C (n.476-22584T>C)
c.1558A>G (p.Ile520Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.70965017A>TCA347189466ATP6V1B1,VAX2c.1438A>T (p.Ile480Phe)
c.1491A>T
c.370A>T (p.Ile124Phe)
c.1387A>T (p.Ile463Phe)
c.*716A>T (n.*716A>T)
c.253A>T (p.Ile85Phe)
c.143-16642T>A
c.476-22584T>A (n.476-22584T>A)
c.1558A>T (p.Ile520Phe)
2g.70965018T>ACA347189486ATP6V1B1,VAX2c.1439T>A (p.Ile480Asn)
c.1492T>A
c.371T>A (p.Ile124Asn)
c.1388T>A (p.Ile463Asn)
c.*717T>A (n.*717T>A)
c.254T>A (p.Ile85Asn)
c.143-16643A>T
c.476-22585A>T (n.476-22585A>T)
c.1559T>A (p.Ile520Asn)
2g.70965018T>CCA347189485ATP6V1B1,VAX2c.1439T>C (p.Ile480Thr)
c.1492T>C
c.371T>C (p.Ile124Thr)
c.1388T>C (p.Ile463Thr)
c.*717T>C (n.*717T>C)
c.254T>C (p.Ile85Thr)
c.143-16643A>G
c.476-22585A>G (n.476-22585A>G)
c.1559T>C (p.Ile520Thr)
2g.70965018T>GCA347189489ATP6V1B1,VAX2c.1439T>G (p.Ile480Ser)
c.1492T>G
c.371T>G (p.Ile124Ser)
c.1388T>G (p.Ile463Ser)
c.*717T>G (n.*717T>G)
c.254T>G (p.Ile85Ser)
c.143-16643A>C
c.476-22585A>C (n.476-22585A>C)
c.1559T>G (p.Ile520Ser)
2g.70965019C>ACA426756066ATP6V1B1,VAX2c.1440C>A (p.Ile480=)
c.1493C>A
c.372C>A (p.Ile124=)
c.1389C>A (p.Ile463=)
c.*718C>A (n.*718C>A)
c.255C>A (p.Ile85=)
c.143-16644G>T
c.476-22586G>T (n.476-22586G>T)
c.1560C>A (p.Ile520=)
 gnomAD v4
2g.70965019C>GCA347189491ATP6V1B1,VAX2c.1440C>G (p.Ile480Met)
c.1493C>G
c.372C>G (p.Ile124Met)
c.1389C>G (p.Ile463Met)
c.*718C>G (n.*718C>G)
c.255C>G (p.Ile85Met)
c.143-16644G>C
c.476-22586G>C (n.476-22586G>C)
c.1560C>G (p.Ile520Met)
2g.70965019C>TCA426756068ATP6V1B1,VAX2c.1440C>T (p.Ile480=)
c.1493C>T
c.372C>T (p.Ile124=)
c.1389C>T (p.Ile463=)
c.*718C>T (n.*718C>T)
c.255C>T (p.Ile85=)
c.143-16644G>A
c.476-22586G>A (n.476-22586G>A)
c.1560C>T (p.Ile520=)
 gnomAD v4
2g.70965020T>ACA347189497ATP6V1B1,VAX2c.1441T>A (p.Phe481Ile)
c.1494T>A
c.373T>A (p.Phe125Ile)
c.1390T>A (p.Phe464Ile)
c.*719T>A (n.*719T>A)
c.256T>A (p.Phe86Ile)
c.143-16645A>T
c.476-22587A>T (n.476-22587A>T)
c.1561T>A (p.Phe521Ile)
2g.70965020T>CCA347189494ATP6V1B1,VAX2c.1441T>C (p.Phe481Leu)
c.1494T>C
c.373T>C (p.Phe125Leu)
c.1390T>C (p.Phe464Leu)
c.*719T>C (n.*719T>C)
c.256T>C (p.Phe86Leu)
c.143-16645A>G
c.476-22587A>G (n.476-22587A>G)
c.1561T>C (p.Phe521Leu)
2g.70965020T>GCA347189499ATP6V1B1,VAX2c.1441T>G (p.Phe481Val)
c.1494T>G
c.373T>G (p.Phe125Val)
c.1390T>G (p.Phe464Val)
c.*719T>G (n.*719T>G)
c.256T>G (p.Phe86Val)
c.143-16645A>C
c.476-22587A>C (n.476-22587A>C)
c.1561T>G (p.Phe521Val)
2g.70965021T>ACA347189501ATP6V1B1,VAX2c.1442T>A (p.Phe481Tyr)
c.1495T>A
c.374T>A (p.Phe125Tyr)
c.1391T>A (p.Phe464Tyr)
c.*720T>A (n.*720T>A)
c.257T>A (p.Phe86Tyr)
c.143-16646A>T
c.476-22588A>T (n.476-22588A>T)
c.1562T>A (p.Phe521Tyr)
2g.70965021T>CCA347189510ATP6V1B1,VAX2c.1442T>C (p.Phe481Ser)
c.1495T>C
c.374T>C (p.Phe125Ser)
c.1391T>C (p.Phe464Ser)
c.*720T>C (n.*720T>C)
c.257T>C (p.Phe86Ser)
c.143-16646A>G
c.476-22588A>G (n.476-22588A>G)
c.1562T>C (p.Phe521Ser)
2g.70965021T>GCA347189504ATP6V1B1,VAX2c.1442T>G (p.Phe481Cys)
c.1495T>G
c.374T>G (p.Phe125Cys)
c.1391T>G (p.Phe464Cys)
c.*720T>G (n.*720T>G)
c.257T>G (p.Phe86Cys)
c.143-16646A>C
c.476-22588A>C (n.476-22588A>C)
c.1562T>G (p.Phe521Cys)
2g.70965022C>ACA347189512ATP6V1B1,VAX2c.1443C>A (p.Phe481Leu)
c.1496C>A
c.375C>A (p.Phe125Leu)
c.1392C>A (p.Phe464Leu)
c.*721C>A (n.*721C>A)
c.258C>A (p.Phe86Leu)
c.143-16647G>T
c.476-22589G>T (n.476-22589G>T)
c.1563C>A (p.Phe521Leu)
2g.70965022C=CA1259813807ATP6V1B1,VAX2c.1443C= (p.Phe481=)
c.1496C=
c.375C= (p.Phe125=)
c.1392C= (p.Phe464=)
c.*721C= (n.*721C=)
c.258C= (p.Phe86=)
c.143-16647G=
c.476-22589G= (n.476-22589G=)
c.1563C= (p.Phe521=)
2g.70965022C>GCA1701367ATP6V1B1,VAX2c.1443C>G (p.Phe481Leu)
c.1496C>G
c.375C>G (p.Phe125Leu)
c.1392C>G (p.Phe464Leu)
c.*721C>G (n.*721C>G)
c.258C>G (p.Phe86Leu)
c.143-16647G>C
c.476-22589G>C (n.476-22589G>C)
c.1563C>G (p.Phe521Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.70965022C>TCA426756070ATP6V1B1,VAX2c.1443C>T (p.Phe481=)
c.1496C>T
c.375C>T (p.Phe125=)
c.1392C>T (p.Phe464=)
c.*721C>T (n.*721C>T)
c.258C>T (p.Phe86=)
c.143-16647G>A
c.476-22589G>A (n.476-22589G>A)
c.1563C>T (p.Phe521=)
2g.70965025delCA2659507900ATP6V1B1,VAX2c.1446del (p.Lys483ArgfsTer4)
c.1499del
c.378del (p.Lys127ArgfsTer4)
c.1395del (p.Lys466ArgfsTer4)
c.*724del (n.*724del)
c.261del (p.Lys88ArgfsTer4)
c.143-16647del
c.476-22589del (n.476-22589del)
c.1566del (p.Lys523ArgfsTer4)
 gnomAD v4
2g.70965023C>ACA347189515ATP6V1B1,VAX2c.1444C>A (p.Pro482Thr)
c.1497C>A
c.376C>A (p.Pro126Thr)
c.1393C>A (p.Pro465Thr)
c.*722C>A (n.*722C>A)
c.259C>A (p.Pro87Thr)
c.143-16648G>T
c.476-22590G>T (n.476-22590G>T)
c.1564C>A (p.Pro522Thr)
2g.70965023C>GCA347189518ATP6V1B1,VAX2c.1444C>G (p.Pro482Ala)
c.1497C>G
c.376C>G (p.Pro126Ala)
c.1393C>G (p.Pro465Ala)
c.*722C>G (n.*722C>G)
c.259C>G (p.Pro87Ala)
c.143-16648G>C
c.476-22590G>C (n.476-22590G>C)
c.1564C>G (p.Pro522Ala)
2g.70965023C>TCA347189520ATP6V1B1,VAX2c.1444C>T (p.Pro482Ser)
c.1497C>T
c.376C>T (p.Pro126Ser)
c.1393C>T (p.Pro465Ser)
c.*722C>T (n.*722C>T)
c.259C>T (p.Pro87Ser)
c.143-16648G>A
c.476-22590G>A (n.476-22590G>A)
c.1564C>T (p.Pro522Ser)
 COSMIC
2g.70965024C>ACA347189524ATP6V1B1,VAX2c.1445C>A (p.Pro482His)
c.1498C>A
c.377C>A (p.Pro126His)
c.1394C>A (p.Pro465His)
c.*723C>A (n.*723C>A)
c.260C>A (p.Pro87His)
c.143-16649G>T
c.476-22591G>T (n.476-22591G>T)
c.1565C>A (p.Pro522His)
2g.70965024C>GCA347189527ATP6V1B1,VAX2c.1445C>G (p.Pro482Arg)
c.1498C>G
c.377C>G (p.Pro126Arg)
c.1394C>G (p.Pro465Arg)
c.*723C>G (n.*723C>G)
c.260C>G (p.Pro87Arg)
c.143-16649G>C
c.476-22591G>C (n.476-22591G>C)
c.1565C>G (p.Pro522Arg)
2g.70965024C>TCA347189529ATP6V1B1,VAX2c.1445C>T (p.Pro482Leu)
c.1498C>T
c.377C>T (p.Pro126Leu)
c.1394C>T (p.Pro465Leu)
c.*723C>T (n.*723C>T)
c.260C>T (p.Pro87Leu)
c.143-16649G>A
c.476-22591G>A (n.476-22591G>A)
c.1565C>T (p.Pro522Leu)
2g.70965025C>ACA426756076ATP6V1B1,VAX2c.1446C>A (p.Pro482=)
c.1499C>A
c.378C>A (p.Pro126=)
c.1395C>A (p.Pro465=)
c.*724C>A (n.*724C>A)
c.261C>A (p.Pro87=)
c.143-16650G>T
c.476-22592G>T (n.476-22592G>T)
c.1566C>A (p.Pro522=)
2g.70965025C>GCA426756077ATP6V1B1,VAX2c.1446C>G (p.Pro482=)
c.1499C>G
c.378C>G (p.Pro126=)
c.1395C>G (p.Pro465=)
c.*724C>G (n.*724C>G)
c.261C>G (p.Pro87=)
c.143-16650G>C
c.476-22592G>C (n.476-22592G>C)
c.1566C>G (p.Pro522=)
2g.70965025C>TCA426756078ATP6V1B1,VAX2c.1446C>T (p.Pro482=)
c.1499C>T
c.378C>T (p.Pro126=)
c.1395C>T (p.Pro465=)
c.*724C>T (n.*724C>T)
c.261C>T (p.Pro87=)
c.143-16650G>A
c.476-22592G>A (n.476-22592G>A)
c.1566C>T (p.Pro522=)
2g.70965026A=CA1259813808ATP6V1B1,VAX2c.1447A= (p.Lys483=)
c.1500A=
c.379A= (p.Lys127=)
c.1396A= (p.Lys466=)
c.*725A= (n.*725A=)
c.262A= (p.Lys88=)
c.143-16651T=
c.476-22593T= (n.476-22593T=)
c.1567A= (p.Lys523=)
2g.70965026A>CCA347189530ATP6V1B1,VAX2c.1447A>C (p.Lys483Gln)
c.1500A>C
c.379A>C (p.Lys127Gln)
c.1396A>C (p.Lys466Gln)
c.*725A>C (n.*725A>C)
c.262A>C (p.Lys88Gln)
c.143-16651T>G
c.476-22593T>G (n.476-22593T>G)
c.1567A>C (p.Lys523Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.70965026A>GCA347189534ATP6V1B1,VAX2c.1447A>G (p.Lys483Glu)
c.1500A>G
c.379A>G (p.Lys127Glu)
c.1396A>G (p.Lys466Glu)
c.*725A>G (n.*725A>G)
c.262A>G (p.Lys88Glu)
c.143-16651T>C
c.476-22593T>C (n.476-22593T>C)
c.1567A>G (p.Lys523Glu)
 dbSNP gnomAD v4
2g.70965026A>TCA1701368ATP6V1B1,VAX2c.1447A>T (p.Lys483Ter)
c.1500A>T
c.379A>T (p.Lys127Ter)
c.1396A>T (p.Lys466Ter)
c.*725A>T (n.*725A>T)
c.262A>T (p.Lys88Ter)
c.143-16651T>A
c.476-22593T>A (n.476-22593T>A)
c.1567A>T (p.Lys523Ter)
 dbSNP ExAC gnomAD v2
2g.70965027A=CA1259813809ATP6V1B1,VAX2c.1448A= (p.Lys483=)
c.1501A=
c.380A= (p.Lys127=)
c.1397A= (p.Lys466=)
c.*726A= (n.*726A=)
c.263A= (p.Lys88=)
c.143-16652T=
c.476-22594T= (n.476-22594T=)
c.1568A= (p.Lys523=)
2g.70965027A>CCA347189545ATP6V1B1,VAX2c.1448A>C (p.Lys483Thr)
c.1501A>C
c.380A>C (p.Lys127Thr)
c.1397A>C (p.Lys466Thr)
c.*726A>C (n.*726A>C)
c.263A>C (p.Lys88Thr)
c.143-16652T>G
c.476-22594T>G (n.476-22594T>G)
c.1568A>C (p.Lys523Thr)
2g.70965027A>GCA347189541ATP6V1B1,VAX2c.1448A>G (p.Lys483Arg)
c.1501A>G
c.380A>G (p.Lys127Arg)
c.1397A>G (p.Lys466Arg)
c.*726A>G (n.*726A>G)
c.263A>G (p.Lys88Arg)
c.143-16652T>C
c.476-22594T>C (n.476-22594T>C)
c.1568A>G (p.Lys523Arg)
2g.70965027A>TCA1701369ATP6V1B1,VAX2c.1448A>T (p.Lys483Met)
c.1501A>T
c.380A>T (p.Lys127Met)
c.1397A>T (p.Lys466Met)
c.*726A>T (n.*726A>T)
c.263A>T (p.Lys88Met)
c.143-16652T>A
c.476-22594T>A (n.476-22594T>A)
c.1568A>T (p.Lys523Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70965028G>ACA426756083ATP6V1B1,VAX2c.1449G>A (p.Lys483=)
c.1502G>A
c.381G>A (p.Lys127=)
c.1398G>A (p.Lys466=)
c.*727G>A (n.*727G>A)
c.264G>A (p.Lys88=)
c.143-16653C>T
c.476-22595C>T (n.476-22595C>T)
c.1569G>A (p.Lys523=)
 COSMIC
2g.70965028G>CCA347189546ATP6V1B1,VAX2c.1449G>C (p.Lys483Asn)
c.1502G>C
c.381G>C (p.Lys127Asn)
c.1398G>C (p.Lys466Asn)
c.*727G>C (n.*727G>C)
c.264G>C (p.Lys88Asn)
c.143-16653C>G
c.476-22595C>G (n.476-22595C>G)
c.1569G>C (p.Lys523Asn)
2g.70965028G>TCA347189547ATP6V1B1,VAX2c.1449G>T (p.Lys483Asn)
c.1502G>T
c.381G>T (p.Lys127Asn)
c.1398G>T (p.Lys466Asn)
c.*727G>T (n.*727G>T)
c.264G>T (p.Lys88Asn)
c.143-16653C>A
c.476-22595C>A (n.476-22595C>A)
c.1569G>T (p.Lys523Asn)
 ClinVar dbSNP
2g.70965029G>ACA347189548ATP6V1B1,VAX2c.1450G>A (p.Glu484Lys)
c.1503G>A
c.382G>A (p.Glu128Lys)
c.1399G>A (p.Glu467Lys)
c.*728G>A (n.*728G>A)
c.265G>A (p.Glu89Lys)
c.143-16654C>T
c.476-22596C>T (n.476-22596C>T)
c.1570G>A (p.Glu524Lys)
2g.70965029G>CCA347189549ATP6V1B1,VAX2c.1450G>C (p.Glu484Gln)
c.1503G>C
c.382G>C (p.Glu128Gln)
c.1399G>C (p.Glu467Gln)
c.*728G>C (n.*728G>C)
c.265G>C (p.Glu89Gln)
c.143-16654C>G
c.476-22596C>G (n.476-22596C>G)
c.1570G>C (p.Glu524Gln)
2g.70965029G=CA1259813810ATP6V1B1,VAX2c.1450G= (p.Glu484=)
c.1503G=
c.382G= (p.Glu128=)
c.1399G= (p.Glu467=)
c.*728G= (n.*728G=)
c.265G= (p.Glu89=)
c.143-16654C=
c.476-22596C= (n.476-22596C=)
c.1570G= (p.Glu524=)
2g.70965029G>TCA347189550ATP6V1B1,VAX2c.1450G>T (p.Glu484Ter)
c.1503G>T
c.382G>T (p.Glu128Ter)
c.1399G>T (p.Glu467Ter)
c.*728G>T (n.*728G>T)
c.265G>T (p.Glu89Ter)
c.143-16654C>A
c.476-22596C>A (n.476-22596C>A)
c.1570G>T (p.Glu524Ter)
 dbSNP gnomAD v4
2g.70965030A=CA1259813811ATP6V1B1,VAX2c.1451A= (p.Glu484=)
c.1504A=
c.383A= (p.Glu128=)
c.1400A= (p.Glu467=)
c.*729A= (n.*729A=)
c.266A= (p.Glu89=)
c.143-16655T=
c.476-22597T= (n.476-22597T=)
c.1571A= (p.Glu524=)
2g.70965030A>CCA347189552ATP6V1B1,VAX2c.1451A>C (p.Glu484Ala)
c.1504A>C
c.383A>C (p.Glu128Ala)
c.1400A>C (p.Glu467Ala)
c.*729A>C (n.*729A>C)
c.266A>C (p.Glu89Ala)
c.143-16655T>G
c.476-22597T>G (n.476-22597T>G)
c.1571A>C (p.Glu524Ala)
2g.70965030A>GCA347189559ATP6V1B1,VAX2c.1451A>G (p.Glu484Gly)
c.1504A>G
c.383A>G (p.Glu128Gly)
c.1400A>G (p.Glu467Gly)
c.*729A>G (n.*729A>G)
c.266A>G (p.Glu89Gly)
c.143-16655T>C
c.476-22597T>C (n.476-22597T>C)
c.1571A>G (p.Glu524Gly)
2g.70965030A>TCA347189561ATP6V1B1,VAX2c.1451A>T (p.Glu484Val)
c.1504A>T
c.383A>T (p.Glu128Val)
c.1400A>T (p.Glu467Val)
c.*729A>T (n.*729A>T)
c.266A>T (p.Glu89Val)
c.143-16655T>A
c.476-22597T>A (n.476-22597T>A)
c.1571A>T (p.Glu524Val)
 dbSNP gnomAD v4
2g.70965031G>ACA426756091ATP6V1B1,VAX2c.1452G>A (p.Glu484=)
c.1505G>A
c.384G>A (p.Glu128=)
c.1401G>A (p.Glu467=)
c.*730G>A (n.*730G>A)
c.267G>A (p.Glu89=)
c.143-16656C>T
c.476-22598C>T (n.476-22598C>T)
c.1572G>A (p.Glu524=)
 gnomAD v4
2g.70965031G>CCA347189563ATP6V1B1,VAX2c.1452G>C (p.Glu484Asp)
c.1505G>C
c.384G>C (p.Glu128Asp)
c.1401G>C (p.Glu467Asp)
c.*730G>C (n.*730G>C)
c.267G>C (p.Glu89Asp)
c.143-16656C>G
c.476-22598C>G (n.476-22598C>G)
c.1572G>C (p.Glu524Asp)
2g.70965031G>TCA347189564ATP6V1B1,VAX2c.1452G>T (p.Glu484Asp)
c.1505G>T
c.384G>T (p.Glu128Asp)
c.1401G>T (p.Glu467Asp)
c.*730G>T (n.*730G>T)
c.267G>T (p.Glu89Asp)
c.143-16656C>A
c.476-22598C>A (n.476-22598C>A)
c.1572G>T (p.Glu524Asp)
2g.70965032A=CA1259813812ATP6V1B1,VAX2c.1453A= (p.Met485=)
c.1506A=
c.385A= (p.Met129=)
c.1402A= (p.Met468=)
c.*731A= (n.*731A=)
c.268A= (p.Met90=)
c.143-16657T=
c.476-22599T= (n.476-22599T=)
c.1573A= (p.Met525=)
2g.70965032A>CCA347189566ATP6V1B1,VAX2c.1453A>C (p.Met485Leu)
c.1506A>C
c.385A>C (p.Met129Leu)
c.1402A>C (p.Met468Leu)
c.*731A>C (n.*731A>C)
c.268A>C (p.Met90Leu)
c.143-16657T>G
c.476-22599T>G (n.476-22599T>G)
c.1573A>C (p.Met525Leu)
2g.70965032A>GCA49704225ATP6V1B1,VAX2c.1453A>G (p.Met485Val)
c.1506A>G
c.385A>G (p.Met129Val)
c.1402A>G (p.Met468Val)
c.*731A>G (n.*731A>G)
c.268A>G (p.Met90Val)
c.143-16657T>C
c.476-22599T>C (n.476-22599T>C)
c.1573A>G (p.Met525Val)
 dbSNP
2g.70965032A>TCA347189565ATP6V1B1,VAX2c.1453A>T (p.Met485Leu)
c.1506A>T
c.385A>T (p.Met129Leu)
c.1402A>T (p.Met468Leu)
c.*731A>T (n.*731A>T)
c.268A>T (p.Met90Leu)
c.143-16657T>A
c.476-22599T>A (n.476-22599T>A)
c.1573A>T (p.Met525Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70965032_70965043delinsGCA916084409ATP6V1B1,VAX2c.1453_1464delinsG (p.Met485AspfsTer22)
c.1506_1517delinsG
c.385_396delinsG (p.Met129AspfsTer22)
c.1402_1413delinsG (p.Met468AspfsTer22)
c.*731_*742delinsG (n.*731_*742delinsG)
c.268_279delinsG (p.Met90AspfsTer22)
c.143-16668_143-16657delinsC
c.476-22610_476-22599delinsC (n.476-22610_476-22599delinsC)
c.1573_1584delinsG (p.Met525AspfsTer22)
2g.70965033T>ACA347189570ATP6V1B1,VAX2c.1454T>A (p.Met485Lys)
c.1507T>A
c.386T>A (p.Met129Lys)
c.1403T>A (p.Met468Lys)
c.*732T>A (n.*732T>A)
c.269T>A (p.Met90Lys)
c.143-16658A>T
c.476-22600A>T (n.476-22600A>T)
c.1574T>A (p.Met525Lys)
2g.70965033T>CCA347189572ATP6V1B1,VAX2c.1454T>C (p.Met485Thr)
c.1507T>C
c.386T>C (p.Met129Thr)
c.1403T>C (p.Met468Thr)
c.*732T>C (n.*732T>C)
c.269T>C (p.Met90Thr)
c.143-16658A>G
c.476-22600A>G (n.476-22600A>G)
c.1574T>C (p.Met525Thr)
2g.70965033T>GCA347189576ATP6V1B1,VAX2c.1454T>G (p.Met485Arg)
c.1507T>G
c.386T>G (p.Met129Arg)
c.1403T>G (p.Met468Arg)
c.*732T>G (n.*732T>G)
c.269T>G (p.Met90Arg)
c.143-16658A>C
c.476-22600A>C (n.476-22600A>C)
c.1574T>G (p.Met525Arg)
2g.70965034G>ACA347189580ATP6V1B1,VAX2c.1455G>A (p.Met485Ile)
c.1508G>A
c.387G>A (p.Met129Ile)
c.1404G>A (p.Met468Ile)
c.*733G>A (n.*733G>A)
c.270G>A (p.Met90Ile)
c.143-16659C>T
c.476-22601C>T (n.476-22601C>T)
c.1575G>A (p.Met525Ile)
 gnomAD v4
2g.70965034G>CCA347189582ATP6V1B1,VAX2c.1455G>C (p.Met485Ile)
c.1508G>C
c.387G>C (p.Met129Ile)
c.1404G>C (p.Met468Ile)
c.*733G>C (n.*733G>C)
c.270G>C (p.Met90Ile)
c.143-16659C>G
c.476-22601C>G (n.476-22601C>G)
c.1575G>C (p.Met525Ile)
2g.70965034G=CA1259813813ATP6V1B1,VAX2c.1455G= (p.Met485=)
c.1508G=
c.387G= (p.Met129=)
c.1404G= (p.Met468=)
c.*733G= (n.*733G=)
c.270G= (p.Met90=)
c.143-16659C=
c.476-22601C= (n.476-22601C=)
c.1575G= (p.Met525=)
2g.70965034G>TCA347189585ATP6V1B1,VAX2c.1455G>T (p.Met485Ile)
c.1508G>T
c.387G>T (p.Met129Ile)
c.1404G>T (p.Met468Ile)
c.*733G>T (n.*733G>T)
c.270G>T (p.Met90Ile)
c.143-16659C>A
c.476-22601C>A (n.476-22601C>A)
c.1575G>T (p.Met525Ile)
 dbSNP
2g.70965035C>ACA347189589ATP6V1B1,VAX2c.1456C>A (p.Leu486Met)
c.1509C>A
c.388C>A (p.Leu130Met)
c.1405C>A (p.Leu469Met)
c.*734C>A (n.*734C>A)
c.271C>A (p.Leu91Met)
c.143-16660G>T
c.476-22602G>T (n.476-22602G>T)
c.1576C>A (p.Leu526Met)
2g.70965035C=CA1259813814ATP6V1B1,VAX2c.1456C= (p.Leu486=)
c.1509C=
c.388C= (p.Leu130=)
c.1405C= (p.Leu469=)
c.*734C= (n.*734C=)
c.271C= (p.Leu91=)
c.143-16660G=
c.476-22602G= (n.476-22602G=)
c.1576C= (p.Leu526=)
2g.70965035C>GCA347189588ATP6V1B1,VAX2c.1456C>G (p.Leu486Val)
c.1509C>G
c.388C>G (p.Leu130Val)
c.1405C>G (p.Leu469Val)
c.*734C>G (n.*734C>G)
c.271C>G (p.Leu91Val)
c.143-16660G>C
c.476-22602G>C (n.476-22602G>C)
c.1576C>G (p.Leu526Val)
2g.70965035C>TCA426756104ATP6V1B1,VAX2c.1456C>T (p.Leu486=)
c.1509C>T
c.388C>T (p.Leu130=)
c.1405C>T (p.Leu469=)
c.*734C>T (n.*734C>T)
c.271C>T (p.Leu91=)
c.143-16660G>A
c.476-22602G>A (n.476-22602G>A)
c.1576C>T (p.Leu526=)
 ClinVar dbSNP
2g.70965036T>ACA347189593ATP6V1B1,VAX2c.1457T>A (p.Leu486Gln)
c.1510T>A
c.389T>A (p.Leu130Gln)
c.1406T>A (p.Leu469Gln)
c.*735T>A (n.*735T>A)
c.272T>A (p.Leu91Gln)
c.143-16661A>T
c.476-22603A>T (n.476-22603A>T)
c.1577T>A (p.Leu526Gln)
2g.70965036T>CCA347189595ATP6V1B1,VAX2c.1457T>C (p.Leu486Pro)
c.1510T>C
c.389T>C (p.Leu130Pro)
c.1406T>C (p.Leu469Pro)
c.*735T>C (n.*735T>C)
c.272T>C (p.Leu91Pro)
c.143-16661A>G
c.476-22603A>G (n.476-22603A>G)
c.1577T>C (p.Leu526Pro)
 ClinVar dbSNP
2g.70965036T>GCA347189596ATP6V1B1,VAX2c.1457T>G (p.Leu486Arg)
c.1510T>G
c.389T>G (p.Leu130Arg)
c.1406T>G (p.Leu469Arg)
c.*735T>G (n.*735T>G)
c.272T>G (p.Leu91Arg)
c.143-16661A>C
c.476-22603A>C (n.476-22603A>C)
c.1577T>G (p.Leu526Arg)
2g.70965037G>ACA426756109ATP6V1B1,VAX2c.1458G>A (p.Leu486=)
c.1511G>A
c.390G>A (p.Leu130=)
c.1407G>A (p.Leu469=)
c.*736G>A (n.*736G>A)
c.273G>A (p.Leu91=)
c.143-16662C>T
c.476-22604C>T (n.476-22604C>T)
c.1578G>A (p.Leu526=)
2g.70965037G>CCA426756107ATP6V1B1,VAX2c.1458G>C (p.Leu486=)
c.1511G>C
c.390G>C (p.Leu130=)
c.1407G>C (p.Leu469=)
c.*736G>C (n.*736G>C)
c.273G>C (p.Leu91=)
c.143-16662C>G
c.476-22604C>G (n.476-22604C>G)
c.1578G>C (p.Leu526=)
2g.70965037G>TCA426756105ATP6V1B1,VAX2c.1458G>T (p.Leu486=)
c.1511G>T
c.390G>T (p.Leu130=)
c.1407G>T (p.Leu469=)
c.*736G>T (n.*736G>T)
c.273G>T (p.Leu91=)
c.143-16662C>A
c.476-22604C>A (n.476-22604C>A)
c.1578G>T (p.Leu526=)
2g.70965038A>CCA347189601ATP6V1B1,VAX2c.1459A>C (p.Lys487Gln)
c.1512A>C
c.391A>C (p.Lys131Gln)
c.1408A>C (p.Lys470Gln)
c.*737A>C (n.*737A>C)
c.274A>C (p.Lys92Gln)
c.143-16663T>G
c.476-22605T>G (n.476-22605T>G)
c.1579A>C (p.Lys527Gln)
 gnomAD v4
2g.70965038A>GCA347189628ATP6V1B1,VAX2c.1459A>G (p.Lys487Glu)
c.1512A>G
c.391A>G (p.Lys131Glu)
c.1408A>G (p.Lys470Glu)
c.*737A>G (n.*737A>G)
c.274A>G (p.Lys92Glu)
c.143-16663T>C
c.476-22605T>C (n.476-22605T>C)
c.1579A>G (p.Lys527Glu)
2g.70965038A>TCA347189633ATP6V1B1,VAX2c.1459A>T (p.Lys487Ter)
c.1512A>T
c.391A>T (p.Lys131Ter)
c.1408A>T (p.Lys470Ter)
c.*737A>T (n.*737A>T)
c.274A>T (p.Lys92Ter)
c.143-16663T>A
c.476-22605T>A (n.476-22605T>A)
c.1579A>T (p.Lys527Ter)
2g.70965039A>CCA347189637ATP6V1B1,VAX2c.1460A>C (p.Lys487Thr)
c.1513A>C
c.392A>C (p.Lys131Thr)
c.1409A>C (p.Lys470Thr)
c.*738A>C (n.*738A>C)
c.275A>C (p.Lys92Thr)
c.143-16664T>G
c.476-22606T>G (n.476-22606T>G)
c.1580A>C (p.Lys527Thr)
2g.70965039A>GCA347189649ATP6V1B1,VAX2c.1460A>G (p.Lys487Arg)
c.1513A>G
c.392A>G (p.Lys131Arg)
c.1409A>G (p.Lys470Arg)
c.*738A>G (n.*738A>G)
c.275A>G (p.Lys92Arg)
c.143-16664T>C
c.476-22606T>C (n.476-22606T>C)
c.1580A>G (p.Lys527Arg)
 gnomAD v4
2g.70965039A>TCA347189646ATP6V1B1,VAX2c.1460A>T (p.Lys487Met)
c.1513A>T
c.392A>T (p.Lys131Met)
c.1409A>T (p.Lys470Met)
c.*738A>T (n.*738A>T)
c.275A>T (p.Lys92Met)
c.143-16664T>A
c.476-22606T>A (n.476-22606T>A)
c.1580A>T (p.Lys527Met)
2g.70965040G>ACA426756116ATP6V1B1,VAX2c.1461G>A (p.Lys487=)
c.1514G>A
c.393G>A (p.Lys131=)
c.1410G>A (p.Lys470=)
c.*739G>A (n.*739G>A)
c.276G>A (p.Lys92=)
c.143-16665C>T
c.476-22607C>T (n.476-22607C>T)
c.1581G>A (p.Lys527=)
2g.70965040G>CCA347189656ATP6V1B1,VAX2c.1461G>C (p.Lys487Asn)
c.1514G>C
c.393G>C (p.Lys131Asn)
c.1410G>C (p.Lys470Asn)
c.*739G>C (n.*739G>C)
c.276G>C (p.Lys92Asn)
c.143-16665C>G
c.476-22607C>G (n.476-22607C>G)
c.1581G>C (p.Lys527Asn)
2g.70965040G>TCA347189659ATP6V1B1,VAX2c.1461G>T (p.Lys487Asn)
c.1514G>T
c.393G>T (p.Lys131Asn)
c.1410G>T (p.Lys470Asn)
c.*739G>T (n.*739G>T)
c.276G>T (p.Lys92Asn)
c.143-16665C>A
c.476-22607C>A (n.476-22607C>A)
c.1581G>T (p.Lys527Asn)
2g.70965041C>ACA1701370ATP6V1B1,VAX2c.1462C>A (p.Arg488Ser)
c.1515C>A
c.394C>A (p.Arg132Ser)
c.1411C>A (p.Arg471Ser)
c.*740C>A (n.*740C>A)
c.277C>A (p.Arg93Ser)
c.143-16666G>T
c.476-22608G>T (n.476-22608G>T)
c.1582C>A (p.Arg528Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.70965041C=CA1259813815ATP6V1B1,VAX2c.1462C= (p.Arg488=)
c.1515C=
c.394C= (p.Arg132=)
c.1411C= (p.Arg471=)
c.*740C= (n.*740C=)
c.277C= (p.Arg93=)
c.143-16666G=
c.476-22608G= (n.476-22608G=)
c.1582C= (p.Arg528=)
2g.70965041C>GCA347189681ATP6V1B1,VAX2c.1462C>G (p.Arg488Gly)
c.1515C>G
c.394C>G (p.Arg132Gly)
c.1411C>G (p.Arg471Gly)
c.*740C>G (n.*740C>G)
c.277C>G (p.Arg93Gly)
c.143-16666G>C
c.476-22608G>C (n.476-22608G>C)
c.1582C>G (p.Arg528Gly)
 ClinVar dbSNP
2g.70965041C>TCA347189683ATP6V1B1,VAX2c.1462C>T (p.Arg488Cys)
c.1515C>T
c.394C>T (p.Arg132Cys)
c.1411C>T (p.Arg471Cys)
c.*740C>T (n.*740C>T)
c.277C>T (p.Arg93Cys)
c.143-16666G>A
c.476-22608G>A (n.476-22608G>A)
c.1582C>T (p.Arg528Cys)
2g.70965042G>ACA347189686ATP6V1B1,VAX2c.1463G>A (p.Arg488His)
c.1516G>A
c.395G>A (p.Arg132His)
c.1412G>A (p.Arg471His)
c.*741G>A (n.*741G>A)
c.278G>A (p.Arg93His)
c.143-16667C>T
c.476-22609C>T (n.476-22609C>T)
c.1583G>A (p.Arg528His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.70965042G>CCA347189687ATP6V1B1,VAX2c.1463G>C (p.Arg488Pro)
c.1516G>C
c.395G>C (p.Arg132Pro)
c.1412G>C (p.Arg471Pro)
c.*741G>C (n.*741G>C)
c.278G>C (p.Arg93Pro)
c.143-16667C>G
c.476-22609C>G (n.476-22609C>G)
c.1583G>C (p.Arg528Pro)
2g.70965042G=CA1259813816ATP6V1B1,VAX2c.1463G= (p.Arg488=)
c.1516G=
c.395G= (p.Arg132=)
c.1412G= (p.Arg471=)
c.*741G= (n.*741G=)
c.278G= (p.Arg93=)
c.143-16667C=
c.476-22609C= (n.476-22609C=)
c.1583G= (p.Arg528=)
2g.70965042G>TCA1701371ATP6V1B1,VAX2c.1463G>T (p.Arg488Leu)
c.1516G>T
c.395G>T (p.Arg132Leu)
c.1412G>T (p.Arg471Leu)
c.*741G>T (n.*741G>T)
c.278G>T (p.Arg93Leu)
c.143-16667C>A
c.476-22609C>A (n.476-22609C>A)
c.1583G>T (p.Arg528Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.70965043C>ACA426756126ATP6V1B1,VAX2c.1464C>A (p.Arg488=)
c.1517C>A
c.396C>A (p.Arg132=)
c.1413C>A (p.Arg471=)
c.*742C>A (n.*742C>A)
c.279C>A (p.Arg93=)
c.143-16668G>T
c.476-22610G>T (n.476-22610G>T)
c.1584C>A (p.Arg528=)
2g.70965043C=CA1259813817ATP6V1B1,VAX2c.1464C= (p.Arg488=)
c.1517C=
c.396C= (p.Arg132=)
c.1413C= (p.Arg471=)
c.*742C= (n.*742C=)
c.279C= (p.Arg93=)
c.143-16668G=
c.476-22610G= (n.476-22610G=)
c.1584C= (p.Arg528=)
2g.70965043C>GCA426756129ATP6V1B1,VAX2c.1464C>G (p.Arg488=)
c.1517C>G
c.396C>G (p.Arg132=)
c.1413C>G (p.Arg471=)
c.*742C>G (n.*742C>G)
c.279C>G (p.Arg93=)
c.143-16668G>C
c.476-22610G>C (n.476-22610G>C)
c.1584C>G (p.Arg528=)
2g.70965043C>TCA426756127ATP6V1B1,VAX2c.1464C>T (p.Arg488=)
c.1517C>T
c.396C>T (p.Arg132=)
c.1413C>T (p.Arg471=)
c.*742C>T (n.*742C>T)
c.279C>T (p.Arg93=)
c.143-16668G>A
c.476-22610G>A (n.476-22610G>A)
c.1584C>T (p.Arg528=)
 ClinVar dbSNP gnomAD v4
2g.70965044A=CA1259813818ATP6V1B1,VAX2c.1465A= (p.Ile489=)
c.1518A=
c.397A= (p.Ile133=)
c.1414A= (p.Ile472=)
c.*743A= (n.*743A=)
c.280A= (p.Ile94=)
c.143-16669T=
c.476-22611T= (n.476-22611T=)
c.1585A= (p.Ile529=)
2g.70965044A>CCA347189688ATP6V1B1,VAX2c.1465A>C (p.Ile489Leu)
c.1518A>C
c.397A>C (p.Ile133Leu)
c.1414A>C (p.Ile472Leu)
c.*743A>C (n.*743A>C)
c.280A>C (p.Ile94Leu)
c.143-16669T>G
c.476-22611T>G (n.476-22611T>G)
c.1585A>C (p.Ile529Leu)
2g.70965044A>GCA1701372ATP6V1B1,VAX2c.1465A>G (p.Ile489Val)
c.1518A>G
c.397A>G (p.Ile133Val)
c.1414A>G (p.Ile472Val)
c.*743A>G (n.*743A>G)
c.280A>G (p.Ile94Val)
c.143-16669T>C
c.476-22611T>C (n.476-22611T>C)
c.1585A>G (p.Ile529Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.70965044A>TCA347189690ATP6V1B1,VAX2c.1465A>T (p.Ile489Phe)
c.1518A>T
c.397A>T (p.Ile133Phe)
c.1414A>T (p.Ile472Phe)
c.*743A>T (n.*743A>T)
c.280A>T (p.Ile94Phe)
c.143-16669T>A
c.476-22611T>A (n.476-22611T>A)
c.1585A>T (p.Ile529Phe)
2g.70965045T>ACA347189714ATP6V1B1,VAX2c.1466T>A (p.Ile489Asn)
c.1519T>A
c.398T>A (p.Ile133Asn)
c.1415T>A (p.Ile472Asn)
c.*744T>A (n.*744T>A)
c.281T>A (p.Ile94Asn)
c.143-16670A>T
c.476-22612A>T (n.476-22612A>T)
c.1586T>A (p.Ile529Asn)
2g.70965045T>CCA347189711ATP6V1B1,VAX2c.1466T>C (p.Ile489Thr)
c.1519T>C
c.398T>C (p.Ile133Thr)
c.1415T>C (p.Ile472Thr)
c.*744T>C (n.*744T>C)
c.281T>C (p.Ile94Thr)
c.143-16670A>G
c.476-22612A>G (n.476-22612A>G)
c.1586T>C (p.Ile529Thr)
 ClinVar dbSNP gnomAD v4
2g.70965045T>GCA347189693ATP6V1B1,VAX2c.1466T>G (p.Ile489Ser)
c.1519T>G
c.398T>G (p.Ile133Ser)
c.1415T>G (p.Ile472Ser)
c.*744T>G (n.*744T>G)
c.281T>G (p.Ile94Ser)
c.143-16670A>C
c.476-22612A>C (n.476-22612A>C)
c.1586T>G (p.Ile529Ser)
 dbSNP
2g.70965045T=CA1259813819ATP6V1B1,VAX2c.1466T= (p.Ile489=)
c.1519T=
c.398T= (p.Ile133=)
c.1415T= (p.Ile472=)
c.*744T= (n.*744T=)
c.281T= (p.Ile94=)
c.143-16670A=
c.476-22612A= (n.476-22612A=)
c.1586T= (p.Ile529=)
2g.70965046T>ACA426756136ATP6V1B1,VAX2c.1467T>A (p.Ile489=)
c.1520T>A
c.399T>A (p.Ile133=)
c.1416T>A (p.Ile472=)
c.*745T>A (n.*745T>A)
c.282T>A (p.Ile94=)
c.143-16671A>T
c.476-22613A>T (n.476-22613A>T)
c.1587T>A (p.Ile529=)
2g.70965046T>CCA426756137ATP6V1B1,VAX2c.1467T>C (p.Ile489=)
c.1520T>C
c.399T>C (p.Ile133=)
c.1416T>C (p.Ile472=)
c.*745T>C (n.*745T>C)
c.282T>C (p.Ile94=)
c.143-16671A>G
c.476-22613A>G (n.476-22613A>G)
c.1587T>C (p.Ile529=)
 dbSNP
2g.70965046T>GCA347189723ATP6V1B1,VAX2c.1467T>G (p.Ile489Met)
c.1520T>G
c.399T>G (p.Ile133Met)
c.1416T>G (p.Ile472Met)
c.*745T>G (n.*745T>G)
c.282T>G (p.Ile94Met)
c.143-16671A>C
c.476-22613A>C (n.476-22613A>C)
c.1587T>G (p.Ile529Met)
2g.70965046T=CA1259813820ATP6V1B1,VAX2c.1467T= (p.Ile489=)
c.1520T=
c.399T= (p.Ile133=)
c.1416T= (p.Ile472=)
c.*745T= (n.*745T=)
c.282T= (p.Ile94=)
c.143-16671A=
c.476-22613A= (n.476-22613A=)
c.1587T= (p.Ile529=)
2g.70965047C>ACA347189730ATP6V1B1,VAX2c.1468C>A (p.Pro490Thr)
c.1521C>A
c.400C>A (p.Pro134Thr)
c.1417C>A (p.Pro473Thr)
c.*746C>A (n.*746C>A)
c.283C>A (p.Pro95Thr)
c.143-16672G>T
c.476-22614G>T (n.476-22614G>T)
c.1588C>A (p.Pro530Thr)
2g.70965047C=CA1259813821ATP6V1B1,VAX2c.1468C= (p.Pro490=)
c.1521C=
c.400C= (p.Pro134=)
c.1417C= (p.Pro473=)
c.*746C= (n.*746C=)
c.283C= (p.Pro95=)
c.143-16672G=
c.476-22614G= (n.476-22614G=)
c.1588C= (p.Pro530=)
2g.70965047C>GCA347189726ATP6V1B1,VAX2c.1468C>G (p.Pro490Ala)
c.1521C>G
c.400C>G (p.Pro134Ala)
c.1417C>G (p.Pro473Ala)
c.*746C>G (n.*746C>G)
c.283C>G (p.Pro95Ala)
c.143-16672G>C
c.476-22614G>C (n.476-22614G>C)
c.1588C>G (p.Pro530Ala)
2g.70965047C>TCA49704245ATP6V1B1,VAX2c.1468C>T (p.Pro490Ser)
c.1521C>T
c.400C>T (p.Pro134Ser)
c.1417C>T (p.Pro473Ser)
c.*746C>T (n.*746C>T)
c.283C>T (p.Pro95Ser)
c.143-16672G>A
c.476-22614G>A (n.476-22614G>A)
c.1588C>T (p.Pro530Ser)
 dbSNP COSMIC
2g.70965048delCA2659507902ATP6V1B1,VAX2c.1469del (p.Pro490ArgfsTer4)
c.1522del
c.401del (p.Pro134ArgfsTer4)
c.1418del (p.Pro473ArgfsTer4)
c.*747del (n.*747del)
c.284del (p.Pro95ArgfsTer4)
c.143-16672del
c.476-22614del (n.476-22614del)
c.1589del (p.Pro530ArgfsTer4)
 gnomAD v4
2g.70965048C>ACA347189731ATP6V1B1,VAX2c.1469C>A (p.Pro490Gln)
c.1522C>A
c.401C>A (p.Pro134Gln)
c.1418C>A (p.Pro473Gln)
c.*747C>A (n.*747C>A)
c.284C>A (p.Pro95Gln)
c.143-16673G>T
c.476-22615G>T (n.476-22615G>T)
c.1589C>A (p.Pro530Gln)
2g.70965048C=CA1259813822ATP6V1B1,VAX2c.1469C= (p.Pro490=)
c.1522C=
c.401C= (p.Pro134=)
c.1418C= (p.Pro473=)
c.*747C= (n.*747C=)
c.284C= (p.Pro95=)
c.143-16673G=
c.476-22615G= (n.476-22615G=)
c.1589C= (p.Pro530=)
2g.70965048C>GCA347189732ATP6V1B1,VAX2c.1469C>G (p.Pro490Arg)
c.1522C>G
c.401C>G (p.Pro134Arg)
c.1418C>G (p.Pro473Arg)
c.*747C>G (n.*747C>G)
c.284C>G (p.Pro95Arg)
c.143-16673G>C
c.476-22615G>C (n.476-22615G>C)
c.1589C>G (p.Pro530Arg)
2g.70965048C>TCA1701373ATP6V1B1,VAX2c.1469C>T (p.Pro490Leu)
c.1522C>T
c.401C>T (p.Pro134Leu)
c.1418C>T (p.Pro473Leu)
c.*747C>T (n.*747C>T)
c.284C>T (p.Pro95Leu)
c.143-16673G>A
c.476-22615G>A (n.476-22615G>A)
c.1589C>T (p.Pro530Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70965049G>ACA426756145ATP6V1B1,VAX2c.1470G>A (p.Pro490=)
c.1523G>A
c.402G>A (p.Pro134=)
c.1419G>A (p.Pro473=)
c.*748G>A (n.*748G>A)
c.285G>A (p.Pro95=)
c.143-16674C>T
c.476-22616C>T (n.476-22616C>T)
c.1590G>A (p.Pro530=)
 gnomAD v4
2g.70965049G>CCA426756146ATP6V1B1,VAX2c.1470G>C (p.Pro490=)
c.1523G>C
c.402G>C (p.Pro134=)
c.1419G>C (p.Pro473=)
c.*748G>C (n.*748G>C)
c.285G>C (p.Pro95=)
c.143-16674C>G
c.476-22616C>G (n.476-22616C>G)
c.1590G>C (p.Pro530=)
2g.70965049G>TCA426756147ATP6V1B1,VAX2c.1470G>T (p.Pro490=)
c.1523G>T
c.402G>T (p.Pro134=)
c.1419G>T (p.Pro473=)
c.*748G>T (n.*748G>T)
c.285G>T (p.Pro95=)
c.143-16674C>A
c.476-22616C>A (n.476-22616C>A)
c.1590G>T (p.Pro530=)
 COSMIC
2g.70965050C>ACA347189737ATP6V1B1,VAX2c.1471C>A (p.Gln491Lys)
c.1524C>A
c.403C>A (p.Gln135Lys)
c.1420C>A (p.Gln474Lys)
c.*749C>A (n.*749C>A)
c.286C>A (p.Gln96Lys)
c.143-16675G>T
c.476-22617G>T (n.476-22617G>T)
c.1591C>A (p.Gln531Lys)
2g.70965050C>GCA347189747ATP6V1B1,VAX2c.1471C>G (p.Gln491Glu)
c.1524C>G
c.403C>G (p.Gln135Glu)
c.1420C>G (p.Gln474Glu)
c.*749C>G (n.*749C>G)
c.286C>G (p.Gln96Glu)
c.143-16675G>C
c.476-22617G>C (n.476-22617G>C)
c.1591C>G (p.Gln531Glu)
2g.70965050C>TCA347189750ATP6V1B1,VAX2c.1471C>T (p.Gln491Ter)
c.1524C>T
c.403C>T (p.Gln135Ter)
c.1420C>T (p.Gln474Ter)
c.*749C>T (n.*749C>T)
c.286C>T (p.Gln96Ter)
c.143-16675G>A
c.476-22617G>A (n.476-22617G>A)
c.1591C>T (p.Gln531Ter)
2g.70965051A>CCA347189759ATP6V1B1,VAX2c.1472A>C (p.Gln491Pro)
c.1525A>C
c.404A>C (p.Gln135Pro)
c.1421A>C (p.Gln474Pro)
c.*750A>C (n.*750A>C)
c.287A>C (p.Gln96Pro)
c.143-16676T>G
c.476-22618T>G (n.476-22618T>G)
c.1592A>C (p.Gln531Pro)
2g.70965051A>GCA347189761ATP6V1B1,VAX2c.1472A>G (p.Gln491Arg)
c.1525A>G
c.404A>G (p.Gln135Arg)
c.1421A>G (p.Gln474Arg)
c.*750A>G (n.*750A>G)
c.287A>G (p.Gln96Arg)
c.143-16676T>C
c.476-22618T>C (n.476-22618T>C)
c.1592A>G (p.Gln531Arg)
2g.70965051A>TCA347189766ATP6V1B1,VAX2c.1472A>T (p.Gln491Leu)
c.1525A>T
c.404A>T (p.Gln135Leu)
c.1421A>T (p.Gln474Leu)
c.*750A>T (n.*750A>T)
c.287A>T (p.Gln96Leu)
c.143-16676T>A
c.476-22618T>A (n.476-22618T>A)
c.1592A>T (p.Gln531Leu)
2g.70965052G>ACA426756152ATP6V1B1,VAX2c.1473G>A (p.Gln491=)
c.1526G>A
c.405G>A (p.Gln135=)
c.1422G>A (p.Gln474=)
c.*751G>A (n.*751G>A)
c.288G>A (p.Gln96=)
c.143-16677C>T
c.476-22619C>T (n.476-22619C>T)
c.1593G>A (p.Gln531=)
2g.70965052G>CCA347189773ATP6V1B1,VAX2c.1473G>C (p.Gln491His)
c.1526G>C
c.405G>C (p.Gln135His)
c.1422G>C (p.Gln474His)
c.*751G>C (n.*751G>C)
c.288G>C (p.Gln96His)
c.143-16677C>G
c.476-22619C>G (n.476-22619C>G)
c.1593G>C (p.Gln531His)
2g.70965052G=CA1259813823ATP6V1B1,VAX2c.1473G= (p.Gln491=)
c.1526G=
c.405G= (p.Gln135=)
c.1422G= (p.Gln474=)
c.*751G= (n.*751G=)
c.288G= (p.Gln96=)
c.143-16677C=
c.476-22619C= (n.476-22619C=)
c.1593G= (p.Gln531=)
2g.70965052G>TCA16604376ATP6V1B1,VAX2c.1473G>T (p.Gln491His)
c.1526G>T
c.405G>T (p.Gln135His)
c.1422G>T (p.Gln474His)
c.*751G>T (n.*751G>T)
c.288G>T (p.Gln96His)
c.143-16677C>A
c.476-22619C>A (n.476-22619C>A)
c.1593G>T (p.Gln531His)
 ClinVar dbSNP
2g.70965053G>ACA347189783ATP6V1B1,VAX2c.1474G>A (p.Ala492Thr)
c.1527G>A
c.406G>A (p.Ala136Thr)
c.1423G>A (p.Ala475Thr)
c.*752G>A (n.*752G>A)
c.289G>A (p.Ala97Thr)
c.143-16678C>T
c.476-22620C>T (n.476-22620C>T)
c.1594G>A (p.Ala532Thr)
2g.70965053G>CCA347189791ATP6V1B1,VAX2c.1474G>C (p.Ala492Pro)
c.1527G>C
c.406G>C (p.Ala136Pro)
c.1423G>C (p.Ala475Pro)
c.*752G>C (n.*752G>C)
c.289G>C (p.Ala97Pro)
c.143-16678C>G
c.476-22620C>G (n.476-22620C>G)
c.1594G>C (p.Ala532Pro)
2g.70965053G>TCA347189786ATP6V1B1,VAX2c.1474G>T (p.Ala492Ser)
c.1527G>T
c.406G>T (p.Ala136Ser)
c.1423G>T (p.Ala475Ser)
c.*752G>T (n.*752G>T)
c.289G>T (p.Ala97Ser)
c.143-16678C>A
c.476-22620C>A (n.476-22620C>A)
c.1594G>T (p.Ala532Ser)
2g.70965054C>ACA347189796ATP6V1B1,VAX2c.1475C>A (p.Ala492Asp)
c.1528C>A
c.407C>A (p.Ala136Asp)
c.1424C>A (p.Ala475Asp)
c.*753C>A (n.*753C>A)
c.290C>A (p.Ala97Asp)
c.143-16679G>T
c.476-22621G>T (n.476-22621G>T)
c.1595C>A (p.Ala532Asp)
2g.70965054C>GCA347189813ATP6V1B1,VAX2c.1475C>G (p.Ala492Gly)
c.1528C>G
c.407C>G (p.Ala136Gly)
c.1424C>G (p.Ala475Gly)
c.*753C>G (n.*753C>G)
c.290C>G (p.Ala97Gly)
c.143-16679G>C
c.476-22621G>C (n.476-22621G>C)
c.1595C>G (p.Ala532Gly)
2g.70965054C>TCA347189815ATP6V1B1,VAX2c.1475C>T (p.Ala492Val)
c.1528C>T
c.407C>T (p.Ala136Val)
c.1424C>T (p.Ala475Val)
c.*753C>T (n.*753C>T)
c.290C>T (p.Ala97Val)
c.143-16679G>A
c.476-22621G>A (n.476-22621G>A)
c.1595C>T (p.Ala532Val)
 gnomAD v4
2g.70965055C>ACA426756167ATP6V1B1,VAX2c.1476C>A (p.Ala492=)
c.1529C>A
c.408C>A (p.Ala136=)
c.1425C>A (p.Ala475=)
c.*754C>A (n.*754C>A)
c.291C>A (p.Ala97=)
c.143-16680G>T
c.476-22622G>T (n.476-22622G>T)
c.1596C>A (p.Ala532=)
2g.70965055C>GCA426756168ATP6V1B1,VAX2c.1476C>G (p.Ala492=)
c.1529C>G
c.408C>G (p.Ala136=)
c.1425C>G (p.Ala475=)
c.*754C>G (n.*754C>G)
c.291C>G (p.Ala97=)
c.143-16680G>C
c.476-22622G>C (n.476-22622G>C)
c.1596C>G (p.Ala532=)
 ClinVar
2g.70965055C>TCA426756169ATP6V1B1,VAX2c.1476C>T (p.Ala492=)
c.1529C>T
c.408C>T (p.Ala136=)
c.1425C>T (p.Ala475=)
c.*754C>T (n.*754C>T)
c.291C>T (p.Ala97=)
c.143-16680G>A
c.476-22622G>A (n.476-22622G>A)
c.1596C>T (p.Ala532=)
 ClinVar COSMIC
2g.70965056G>ACA347189817ATP6V1B1,VAX2c.1477G>A (p.Val493Met)
c.1530G>A
c.409G>A (p.Val137Met)
c.1426G>A (p.Val476Met)
c.*755G>A (n.*755G>A)
c.292G>A (p.Val98Met)
c.143-16681C>T
c.476-22623C>T (n.476-22623C>T)
c.1597G>A (p.Val533Met)
 dbSNP gnomAD v4 COSMIC
2g.70965056G>CCA347189819ATP6V1B1,VAX2c.1477G>C (p.Val493Leu)
c.1530G>C
c.409G>C (p.Val137Leu)
c.1426G>C (p.Val476Leu)
c.*755G>C (n.*755G>C)
c.292G>C (p.Val98Leu)
c.143-16681C>G
c.476-22623C>G (n.476-22623C>G)
c.1597G>C (p.Val533Leu)
2g.70965056G=CA1259813824ATP6V1B1,VAX2c.1477G= (p.Val493=)
c.1530G=
c.409G= (p.Val137=)
c.1426G= (p.Val476=)
c.*755G= (n.*755G=)
c.292G= (p.Val98=)
c.143-16681C=
c.476-22623C= (n.476-22623C=)
c.1597G= (p.Val533=)
2g.70965056G>TCA347189826ATP6V1B1,VAX2c.1477G>T (p.Val493Leu)
c.1530G>T
c.409G>T (p.Val137Leu)
c.1426G>T (p.Val476Leu)
c.*755G>T (n.*755G>T)
c.292G>T (p.Val98Leu)
c.143-16681C>A
c.476-22623C>A (n.476-22623C>A)
c.1597G>T (p.Val533Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.70965057T>ACA347189828ATP6V1B1,VAX2c.1478T>A (p.Val493Glu)
c.1531T>A
c.410T>A (p.Val137Glu)
c.1427T>A (p.Val476Glu)
c.*756T>A (n.*756T>A)
c.293T>A (p.Val98Glu)
c.143-16682A>T
c.476-22624A>T (n.476-22624A>T)
c.1598T>A (p.Val533Glu)
2g.70965057T>CCA1701374ATP6V1B1,VAX2c.1478T>C (p.Val493Ala)
c.1531T>C
c.410T>C (p.Val137Ala)
c.1427T>C (p.Val476Ala)
c.*756T>C (n.*756T>C)
c.293T>C (p.Val98Ala)
c.143-16682A>G
c.476-22624A>G (n.476-22624A>G)
c.1598T>C (p.Val533Ala)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.70965057T>GCA347189850ATP6V1B1,VAX2c.1478T>G (p.Val493Gly)
c.1531T>G
c.410T>G (p.Val137Gly)
c.1427T>G (p.Val476Gly)
c.*756T>G (n.*756T>G)
c.293T>G (p.Val98Gly)
c.143-16682A>C
c.476-22624A>C (n.476-22624A>C)
c.1598T>G (p.Val533Gly)
2g.70965057T=CA1259813825ATP6V1B1,VAX2c.1478T= (p.Val493=)
c.1531T=
c.410T= (p.Val137=)
c.1427T= (p.Val476=)
c.*756T= (n.*756T=)
c.293T= (p.Val98=)
c.143-16682A=
c.476-22624A= (n.476-22624A=)
c.1598T= (p.Val533=)
2g.70965058G>ACA426756175ATP6V1B1,VAX2c.1479G>A (p.Val493=)
c.1532G>A
c.411G>A (p.Val137=)
c.1428G>A (p.Val476=)
c.*757G>A (n.*757G>A)
c.294G>A (p.Val98=)
c.143-16683C>T
c.476-22625C>T (n.476-22625C>T)
c.1599G>A (p.Val533=)
 gnomAD v4
2g.70965058G>CCA1701375ATP6V1B1,VAX2c.1479G>C (p.Val493=)
c.1532G>C
c.411G>C (p.Val137=)
c.1428G>C (p.Val476=)
c.*757G>C (n.*757G>C)
c.294G>C (p.Val98=)
c.143-16683C>G
c.476-22625C>G (n.476-22625C>G)
c.1599G>C (p.Val533=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.70965058G=CA1259813826ATP6V1B1,VAX2c.1479G= (p.Val493=)
c.1532G=
c.411G= (p.Val137=)
c.1428G= (p.Val476=)
c.*757G= (n.*757G=)
c.294G= (p.Val98=)
c.143-16683C=
c.476-22625C= (n.476-22625C=)
c.1599G= (p.Val533=)
2g.70965058G>TCA426756178ATP6V1B1,VAX2c.1479G>T (p.Val493=)
c.1532G>T
c.411G>T (p.Val137=)
c.1428G>T (p.Val476=)
c.*757G>T (n.*757G>T)
c.294G>T (p.Val98=)
c.143-16683C>A
c.476-22625C>A (n.476-22625C>A)
c.1599G>T (p.Val533=)
2g.70965059A=CA1259813827ATP6V1B1,VAX2c.1480A= (p.Ile494=)
c.1533A=
c.412A= (p.Ile138=)
c.1429A= (p.Ile477=)
c.*758A= (n.*758A=)
c.295A= (p.Ile99=)
c.143-16684T=
c.476-22626T= (n.476-22626T=)
c.1600A= (p.Ile534=)
2g.70965059A>CCA347189880ATP6V1B1,VAX2c.1480A>C (p.Ile494Leu)
c.1533A>C
c.412A>C (p.Ile138Leu)
c.1429A>C (p.Ile477Leu)
c.*758A>C (n.*758A>C)
c.295A>C (p.Ile99Leu)
c.143-16684T>G
c.476-22626T>G (n.476-22626T>G)
c.1600A>C (p.Ile534Leu)
2g.70965059A>GCA1701376ATP6V1B1,VAX2c.1480A>G (p.Ile494Val)
c.1533A>G
c.412A>G (p.Ile138Val)
c.1429A>G (p.Ile477Val)
c.*758A>G (n.*758A>G)
c.295A>G (p.Ile99Val)
c.143-16684T>C
c.476-22626T>C (n.476-22626T>C)
c.1600A>G (p.Ile534Val)
 dbSNP ExAC gnomAD v2
2g.70965059A>TCA347189871ATP6V1B1,VAX2c.1480A>T (p.Ile494Phe)
c.1533A>T
c.412A>T (p.Ile138Phe)
c.1429A>T (p.Ile477Phe)
c.*758A>T (n.*758A>T)
c.295A>T (p.Ile99Phe)
c.143-16684T>A
c.476-22626T>A (n.476-22626T>A)
c.1600A>T (p.Ile534Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.70965060T>ACA347189882ATP6V1B1,VAX2c.1481T>A (p.Ile494Asn)
c.1534T>A
c.413T>A (p.Ile138Asn)
c.1430T>A (p.Ile477Asn)
c.*759T>A (n.*759T>A)
c.296T>A (p.Ile99Asn)
c.143-16685A>T
c.476-22627A>T (n.476-22627A>T)
c.1601T>A (p.Ile534Asn)
2g.70965060T>CCA347189884ATP6V1B1,VAX2c.1481T>C (p.Ile494Thr)
c.1534T>C
c.413T>C (p.Ile138Thr)
c.1430T>C (p.Ile477Thr)
c.*759T>C (n.*759T>C)
c.296T>C (p.Ile99Thr)
c.143-16685A>G
c.476-22627A>G (n.476-22627A>G)
c.1601T>C (p.Ile534Thr)
2g.70965060T>GCA347189886ATP6V1B1,VAX2c.1481T>G (p.Ile494Ser)
c.1534T>G
c.413T>G (p.Ile138Ser)
c.1430T>G (p.Ile477Ser)
c.*759T>G (n.*759T>G)
c.296T>G (p.Ile99Ser)
c.143-16685A>C
c.476-22627A>C (n.476-22627A>C)
c.1601T>G (p.Ile534Ser)
2g.70965061C>ACA426756186ATP6V1B1,VAX2c.1482C>A (p.Ile494=)
c.1535C>A
c.414C>A (p.Ile138=)
c.1431C>A (p.Ile477=)
c.*760C>A (n.*760C>A)
c.297C>A (p.Ile99=)
c.143-16686G>T
c.476-22628G>T (n.476-22628G>T)
c.1602C>A (p.Ile534=)
2g.70965061C>GCA347189889ATP6V1B1,VAX2c.1482C>G (p.Ile494Met)
c.1535C>G
c.414C>G (p.Ile138Met)
c.1431C>G (p.Ile477Met)
c.*760C>G (n.*760C>G)
c.297C>G (p.Ile99Met)
c.143-16686G>C
c.476-22628G>C (n.476-22628G>C)
c.1602C>G (p.Ile534Met)
 gnomAD v4
2g.70965061C>TCA426756187ATP6V1B1,VAX2c.1482C>T (p.Ile494=)
c.1535C>T
c.414C>T (p.Ile138=)
c.1431C>T (p.Ile477=)
c.*760C>T (n.*760C>T)
c.297C>T (p.Ile99=)
c.143-16686G>A
c.476-22628G>A (n.476-22628G>A)
c.1602C>T (p.Ile534=)
2g.70965062G>ACA347189893ATP6V1B1,VAX2c.1483G>A (p.Asp495Asn)
c.1536G>A
c.415G>A (p.Asp139Asn)
c.1432G>A (p.Asp478Asn)
c.*761G>A (n.*761G>A)
c.298G>A (p.Asp100Asn)
c.143-16687C>T
c.476-22629C>T (n.476-22629C>T)
c.1603G>A (p.Asp535Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.70965062G>CCA347189896ATP6V1B1,VAX2c.1483G>C (p.Asp495His)
c.1536G>C
c.415G>C (p.Asp139His)
c.1432G>C (p.Asp478His)
c.*761G>C (n.*761G>C)
c.298G>C (p.Asp100His)
c.143-16687C>G
c.476-22629C>G (n.476-22629C>G)
c.1603G>C (p.Asp535His)
 dbSNP gnomAD v4
2g.70965062G=CA1259813828ATP6V1B1,VAX2c.1483G= (p.Asp495=)
c.1536G=
c.415G= (p.Asp139=)
c.1432G= (p.Asp478=)
c.*761G= (n.*761G=)
c.298G= (p.Asp100=)
c.143-16687C=
c.476-22629C= (n.476-22629C=)
c.1603G= (p.Asp535=)
2g.70965062G>TCA347189899ATP6V1B1,VAX2c.1483G>T (p.Asp495Tyr)
c.1536G>T
c.415G>T (p.Asp139Tyr)
c.1432G>T (p.Asp478Tyr)
c.*761G>T (n.*761G>T)
c.298G>T (p.Asp100Tyr)
c.143-16687C>A
c.476-22629C>A (n.476-22629C>A)
c.1603G>T (p.Asp535Tyr)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.70965063A>CCA347189905ATP6V1B1,VAX2c.1484A>C (p.Asp495Ala)
c.1537A>C
c.416A>C (p.Asp139Ala)
c.1433A>C (p.Asp478Ala)
c.*762A>C (n.*762A>C)
c.299A>C (p.Asp100Ala)
c.143-16688T>G
c.476-22630T>G (n.476-22630T>G)
c.1604A>C (p.Asp535Ala)
2g.70965063A>GCA347189907ATP6V1B1,VAX2c.1484A>G (p.Asp495Gly)
c.1537A>G
c.416A>G (p.Asp139Gly)
c.1433A>G (p.Asp478Gly)
c.*762A>G (n.*762A>G)
c.299A>G (p.Asp100Gly)
c.143-16688T>C
c.476-22630T>C (n.476-22630T>C)
c.1604A>G (p.Asp535Gly)
2g.70965063A>TCA347189912ATP6V1B1,VAX2c.1484A>T (p.Asp495Val)
c.1537A>T
c.416A>T (p.Asp139Val)
c.1433A>T (p.Asp478Val)
c.*762A>T (n.*762A>T)
c.299A>T (p.Asp100Val)
c.143-16688T>A
c.476-22630T>A (n.476-22630T>A)
c.1604A>T (p.Asp535Val)
2g.70965064C>ACA347189919ATP6V1B1,VAX2c.1485C>A (p.Asp495Glu)
c.1538C>A
c.417C>A (p.Asp139Glu)
c.1434C>A (p.Asp478Glu)
c.*763C>A (n.*763C>A)
c.300C>A (p.Asp100Glu)
c.143-16689G>T
c.476-22631G>T (n.476-22631G>T)
c.1605C>A (p.Asp535Glu)
2g.70965064C=CA1259813829ATP6V1B1,VAX2c.1485C= (p.Asp495=)
c.1538C=
c.417C= (p.Asp139=)
c.1434C= (p.Asp478=)
c.*763C= (n.*763C=)
c.300C= (p.Asp100=)
c.143-16689G=
c.476-22631G= (n.476-22631G=)
c.1605C= (p.Asp535=)
2g.70965064C>GCA347189925ATP6V1B1,VAX2c.1485C>G (p.Asp495Glu)
c.1538C>G
c.417C>G (p.Asp139Glu)
c.1434C>G (p.Asp478Glu)
c.*763C>G (n.*763C>G)
c.300C>G (p.Asp100Glu)
c.143-16689G>C
c.476-22631G>C (n.476-22631G>C)
c.1605C>G (p.Asp535Glu)
2g.70965064C>TCA426756195ATP6V1B1,VAX2c.1485C>T (p.Asp495=)
c.1538C>T
c.417C>T (p.Asp139=)
c.1434C>T (p.Asp478=)
c.*763C>T (n.*763C>T)
c.300C>T (p.Asp100=)
c.143-16689G>A
c.476-22631G>A (n.476-22631G>A)
c.1605C>T (p.Asp535=)
2g.70965065G>ACA1701377ATP6V1B1,VAX2c.1486G>A (p.Glu496Lys)
c.1539G>A
c.418G>A (p.Glu140Lys)
c.1435G>A (p.Glu479Lys)
c.*764G>A (n.*764G>A)
c.301G>A (p.Glu101Lys)
c.143-16690C>T
c.476-22632C>T (n.476-22632C>T)
c.1606G>A (p.Glu536Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.70965065G>CCA347189937ATP6V1B1,VAX2c.1486G>C (p.Glu496Gln)
c.1539G>C
c.418G>C (p.Glu140Gln)
c.1435G>C (p.Glu479Gln)
c.*764G>C (n.*764G>C)
c.301G>C (p.Glu101Gln)
c.143-16690C>G
c.476-22632C>G (n.476-22632C>G)
c.1606G>C (p.Glu536Gln)
2g.70965065G=CA1259813830ATP6V1B1,VAX2c.1486G= (p.Glu496=)
c.1539G=
c.418G= (p.Glu140=)
c.1435G= (p.Glu479=)
c.*764G= (n.*764G=)
c.301G= (p.Glu101=)
c.143-16690C=
c.476-22632C= (n.476-22632C=)
c.1606G= (p.Glu536=)
2g.70965065G>TCA347189930ATP6V1B1,VAX2c.1486G>T (p.Glu496Ter)
c.1539G>T
c.418G>T (p.Glu140Ter)
c.1435G>T (p.Glu479Ter)
c.*764G>T (n.*764G>T)
c.301G>T (p.Glu101Ter)
c.143-16690C>A
c.476-22632C>A (n.476-22632C>A)
c.1606G>T (p.Glu536Ter)
 gnomAD v4
2g.70965065dupCA533654908ATP6V1B1,VAX2c.1486dup (p.Glu496GlyfsTer15)
c.1539dup
c.418dup (p.Glu140GlyfsTer15)
c.1435dup (p.Glu479GlyfsTer15)
c.*764dup (n.*764dup)
c.301dup (p.Glu101GlyfsTer15)
c.143-16690dup
c.476-22632dup (n.476-22632dup)
c.1606dup (p.Glu536GlyfsTer15)
 dbSNP gnomAD v2
2g.70965066A>CCA347189940ATP6V1B1,VAX2c.1487A>C (p.Glu496Ala)
c.1540A>C
c.419A>C (p.Glu140Ala)
c.1436A>C (p.Glu479Ala)
c.*765A>C (n.*765A>C)
c.302A>C (p.Glu101Ala)
c.143-16691T>G
c.476-22633T>G (n.476-22633T>G)
c.1607A>C (p.Glu536Ala)
2g.70965066A>GCA347189942ATP6V1B1,VAX2c.1487A>G (p.Glu496Gly)
c.1540A>G
c.419A>G (p.Glu140Gly)
c.1436A>G (p.Glu479Gly)
c.*765A>G (n.*765A>G)
c.302A>G (p.Glu101Gly)
c.143-16691T>C
c.476-22633T>C (n.476-22633T>C)
c.1607A>G (p.Glu536Gly)
2g.70965066A>TCA347189950ATP6V1B1,VAX2c.1487A>T (p.Glu496Val)
c.1540A>T
c.419A>T (p.Glu140Val)
c.1436A>T (p.Glu479Val)
c.*765A>T (n.*765A>T)
c.302A>T (p.Glu101Val)
c.143-16691T>A
c.476-22633T>A (n.476-22633T>A)
c.1607A>T (p.Glu536Val)
2g.70965067G>ACA426756201ATP6V1B1,VAX2c.1488G>A (p.Glu496=)
c.1541G>A
c.420G>A (p.Glu140=)
c.1437G>A (p.Glu479=)
c.*766G>A (n.*766G>A)
c.303G>A (p.Glu101=)
c.143-16692C>T
c.476-22634C>T (n.476-22634C>T)
c.1608G>A (p.Glu536=)
2g.70965067G>CCA347189953ATP6V1B1,VAX2c.1488G>C (p.Glu496Asp)
c.1541G>C
c.420G>C (p.Glu140Asp)
c.1437G>C (p.Glu479Asp)
c.*766G>C (n.*766G>C)
c.303G>C (p.Glu101Asp)
c.143-16692C>G
c.476-22634C>G (n.476-22634C>G)
c.1608G>C (p.Glu536Asp)
2g.70965067G>TCA347189957ATP6V1B1,VAX2c.1488G>T (p.Glu496Asp)
c.1541G>T
c.420G>T (p.Glu140Asp)
c.1437G>T (p.Glu479Asp)
c.*766G>T (n.*766G>T)
c.303G>T (p.Glu101Asp)
c.143-16692C>A
c.476-22634C>A (n.476-22634C>A)
c.1608G>T (p.Glu536Asp)
2g.70965068T>ACA347189961ATP6V1B1,VAX2c.1489T>A (p.Phe497Ile)
c.1542T>A
c.421T>A (p.Phe141Ile)
c.1438T>A (p.Phe480Ile)
c.*767T>A (n.*767T>A)
c.304T>A (p.Phe102Ile)
c.143-16693A>T
c.476-22635A>T (n.476-22635A>T)
c.1609T>A (p.Phe537Ile)
2g.70965068T>CCA347189969ATP6V1B1,VAX2c.1489T>C (p.Phe497Leu)
c.1542T>C
c.421T>C (p.Phe141Leu)
c.1438T>C (p.Phe480Leu)
c.*767T>C (n.*767T>C)
c.304T>C (p.Phe102Leu)
c.143-16693A>G
c.476-22635A>G (n.476-22635A>G)
c.1609T>C (p.Phe537Leu)
 dbSNP gnomAD v4
2g.70965068T>GCA347189971ATP6V1B1,VAX2c.1489T>G (p.Phe497Val)
c.1542T>G
c.421T>G (p.Phe141Val)
c.1438T>G (p.Phe480Val)
c.*767T>G (n.*767T>G)
c.304T>G (p.Phe102Val)
c.143-16693A>C
c.476-22635A>C (n.476-22635A>C)
c.1609T>G (p.Phe537Val)
2g.70965068T=CA1259813831ATP6V1B1,VAX2c.1489T= (p.Phe497=)
c.1542T=
c.421T= (p.Phe141=)
c.1438T= (p.Phe480=)
c.*767T= (n.*767T=)
c.304T= (p.Phe102=)
c.143-16693A=
c.476-22635A= (n.476-22635A=)
c.1609T= (p.Phe537=)
2g.70965069T>ACA347189989ATP6V1B1,VAX2c.1490T>A (p.Phe497Tyr)
c.1543T>A
c.422T>A (p.Phe141Tyr)
c.1439T>A (p.Phe480Tyr)
c.*768T>A (n.*768T>A)
c.305T>A (p.Phe102Tyr)
c.143-16694A>T
c.476-22636A>T (n.476-22636A>T)
c.1610T>A (p.Phe537Tyr)
2g.70965069T>CCA347189992ATP6V1B1,VAX2c.1490T>C (p.Phe497Ser)
c.1543T>C
c.422T>C (p.Phe141Ser)
c.1439T>C (p.Phe480Ser)
c.*768T>C (n.*768T>C)
c.305T>C (p.Phe102Ser)
c.143-16694A>G
c.476-22636A>G (n.476-22636A>G)
c.1610T>C (p.Phe537Ser)
2g.70965069T>GCA347189995ATP6V1B1,VAX2c.1490T>G (p.Phe497Cys)
c.1543T>G
c.422T>G (p.Phe141Cys)
c.1439T>G (p.Phe480Cys)
c.*768T>G (n.*768T>G)
c.305T>G (p.Phe102Cys)
c.143-16694A>C
c.476-22636A>C (n.476-22636A>C)
c.1610T>G (p.Phe537Cys)
2g.70965070C>ACA347189996ATP6V1B1,VAX2c.1491C>A (p.Phe497Leu)
c.1544C>A
c.423C>A (p.Phe141Leu)
c.1440C>A (p.Phe480Leu)
c.*769C>A (n.*769C>A)
c.306C>A (p.Phe102Leu)
c.143-16695G>T
c.476-22637G>T (n.476-22637G>T)
c.1611C>A (p.Phe537Leu)
 COSMIC
2g.70965070C>GCA347189999ATP6V1B1,VAX2c.1491C>G (p.Phe497Leu)
c.1544C>G
c.423C>G (p.Phe141Leu)
c.1440C>G (p.Phe480Leu)
c.*769C>G (n.*769C>G)
c.306C>G (p.Phe102Leu)
c.143-16695G>C
c.476-22637G>C (n.476-22637G>C)
c.1611C>G (p.Phe537Leu)
2g.70965070C>TCA426756210ATP6V1B1,VAX2c.1491C>T (p.Phe497=)
c.1544C>T
c.423C>T (p.Phe141=)
c.1440C>T (p.Phe480=)
c.*769C>T (n.*769C>T)
c.306C>T (p.Phe102=)
c.143-16695G>A
c.476-22637G>A (n.476-22637G>A)
c.1611C>T (p.Phe537=)
2g.70965071T>ACA347190013ATP6V1B1,VAX2c.1492T>A (p.Tyr498Asn)
c.1545T>A
c.424T>A (p.Tyr142Asn)
c.1441T>A (p.Tyr481Asn)
c.*770T>A (n.*770T>A)
c.307T>A (p.Tyr103Asn)
c.143-16696A>T
c.476-22638A>T (n.476-22638A>T)
c.1612T>A (p.Tyr538Asn)
2g.70965071T>CCA347190016ATP6V1B1,VAX2c.1492T>C (p.Tyr498His)
c.1545T>C
c.424T>C (p.Tyr142His)
c.1441T>C (p.Tyr481His)
c.*770T>C (n.*770T>C)
c.307T>C (p.Tyr103His)
c.143-16696A>G
c.476-22638A>G (n.476-22638A>G)
c.1612T>C (p.Tyr538His)
 gnomAD v4
2g.70965071T>GCA347190001ATP6V1B1,VAX2c.1492T>G (p.Tyr498Asp)
c.1545T>G
c.424T>G (p.Tyr142Asp)
c.1441T>G (p.Tyr481Asp)
c.*770T>G (n.*770T>G)
c.307T>G (p.Tyr103Asp)
c.143-16696A>C
c.476-22638A>C (n.476-22638A>C)
c.1612T>G (p.Tyr538Asp)
2g.70965072A=CA1259813832ATP6V1B1,VAX2c.1493A= (p.Tyr498=)
c.1546A=
c.425A= (p.Tyr142=)
c.1442A= (p.Tyr481=)
c.*771A= (n.*771A=)
c.308A= (p.Tyr103=)
c.143-16697T=
c.476-22639T= (n.476-22639T=)
c.1613A= (p.Tyr538=)
2g.70965072A>CCA347190021ATP6V1B1,VAX2c.1493A>C (p.Tyr498Ser)
c.1546A>C
c.425A>C (p.Tyr142Ser)
c.1442A>C (p.Tyr481Ser)
c.*771A>C (n.*771A>C)
c.308A>C (p.Tyr103Ser)
c.143-16697T>G
c.476-22639T>G (n.476-22639T>G)
c.1613A>C (p.Tyr538Ser)
2g.70965072A>GCA1701378ATP6V1B1,VAX2c.1493A>G (p.Tyr498Cys)
c.1546A>G
c.425A>G (p.Tyr142Cys)
c.1442A>G (p.Tyr481Cys)
c.*771A>G (n.*771A>G)
c.308A>G (p.Tyr103Cys)
c.143-16697T>C
c.476-22639T>C (n.476-22639T>C)
c.1613A>G (p.Tyr538Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.70965072A>TCA347190022ATP6V1B1,VAX2c.1493A>T (p.Tyr498Phe)
c.1546A>T
c.425A>T (p.Tyr142Phe)
c.1442A>T (p.Tyr481Phe)
c.*771A>T (n.*771A>T)
c.308A>T (p.Tyr103Phe)
c.143-16697T>A
c.476-22639T>A (n.476-22639T>A)
c.1613A>T (p.Tyr538Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.70965073T>ACA347190024ATP6V1B1,VAX2c.1494T>A (p.Tyr498Ter)
c.1547T>A
c.426T>A (p.Tyr142Ter)
c.1443T>A (p.Tyr481Ter)
c.*772T>A (n.*772T>A)
c.309T>A (p.Tyr103Ter)
c.143-16698A>T
c.476-22640A>T (n.476-22640A>T)
c.1614T>A (p.Tyr538Ter)
2g.70965073T>CCA426756212ATP6V1B1,VAX2c.1494T>C (p.Tyr498=)
c.1547T>C
c.426T>C (p.Tyr142=)
c.1443T>C (p.Tyr481=)
c.*772T>C (n.*772T>C)
c.309T>C (p.Tyr103=)
c.143-16698A>G
c.476-22640A>G (n.476-22640A>G)
c.1614T>C (p.Tyr538=)
 gnomAD v4
2g.70965073T>GCA347190025ATP6V1B1,VAX2c.1494T>G (p.Tyr498Ter)
c.1547T>G
c.426T>G (p.Tyr142Ter)
c.1443T>G (p.Tyr481Ter)
c.*772T>G (n.*772T>G)
c.309T>G (p.Tyr103Ter)
c.143-16698A>C
c.476-22640A>C (n.476-22640A>C)
c.1614T>G (p.Tyr538Ter)

Number of alleles fetched