Full data view for gene ATP6V1A

Information The variants shown are described using the NM_001690.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-13-25_-13-22del r.(=) p.(=) g.113497563_113497566del Copied from the Exome Variant Server ATP6V1A_000001 91/11888 57/7984 34/3904 - - - - - - -
?/? c.66T>C r.(=) p.(=) g.113497666T>C Copied from the Exome Variant Server ATP6V1A_000002 1/13004 0/8598 1/4406 - - - - - - -
?/? c.83-22A>G r.(=) p.(=) g.113499875A>G Copied from the Exome Variant Server ATP6V1A_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.104C>T r.(?) p.(Ala35Val) g.113499918C>T Copied from the Exome Variant Server ATP6V1A_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.162T>G r.(?) p.(Ile54Met) g.113499976T>G Copied from the Exome Variant Server ATP6V1A_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.190A>G r.(?) p.(Ile64Val) g.113500004A>G Copied from the Exome Variant Server ATP6V1A_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.212-43C>T r.(=) p.(=) g.113503028C>T Copied from the Exome Variant Server ATP6V1A_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.212-33T>A r.(=) p.(=) g.113503038T>A Copied from the Exome Variant Server ATP6V1A_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.212-18C>T r.(=) p.(=) g.113503053C>T Copied from the Exome Variant Server ATP6V1A_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.113503180G>A Copied from the Exome Variant Server ATP6V1A_000016 2/13006 2/8600 0/4406 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.113503228C>T Copied from the Exome Variant Server ATP6V1A_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.372G>C r.(=) p.(=) g.113503231G>C Copied from the Exome Variant Server ATP6V1A_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.410C>T r.(?) p.(Pro137Leu) g.113503269C>T Copied from the Exome Variant Server ATP6V1A_000006 6/13006 6/8600 0/4406 - - - - - - -
?/? c.426+27G>A r.(=) p.(=) g.113503312G>A Copied from the Exome Variant Server ATP6V1A_000008 1/12996 1/8596 0/4400 - - - - - - -
?/? c.427-46C>T r.(=) p.(=) g.113503497C>T Copied from the Exome Variant Server ATP6V1A_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.556G>C r.(?) p.(Asp186His) g.113503672G>C Copied from the Exome Variant Server ATP6V1A_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.565-38A>G r.(=) p.(=) g.113505041A>G Copied from the Exome Variant Server ATP6V1A_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.565-5T>G r.spl? p.? g.113505074T>G Copied from the Exome Variant Server ATP6V1A_000015 2/13006 2/8600 0/4406 - - - - - - -
?/? c.596T>C r.(?) p.(Val199Ala) g.113505110T>C Copied from the Exome Variant Server ATP6V1A_000017 2/13006 0/8600 2/4406 - - - - - - -
?/? c.597A>G r.(=) p.(=) g.113505111A>G Copied from the Exome Variant Server ATP6V1A_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.716+23G>A r.(=) p.(=) g.113505253G>A Copied from the Exome Variant Server ATP6V1A_000021 30/13006 0/8600 30/4406 - - - - - - -
?/? c.716+47G>C r.(=) p.(=) g.113505277G>C Copied from the Exome Variant Server ATP6V1A_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.717-25_717-24insC r.(=) p.(=) g.113507535_113507536insC Copied from the Exome Variant Server ATP6V1A_000023 188/12520 2/8254 186/4266 - - - - - - -
?/? c.734C>G r.(?) p.(Thr245Ser) g.113507577C>G Copied from the Exome Variant Server ATP6V1A_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.879+27C>G r.(=) p.(=) g.113507749C>G Copied from the Exome Variant Server ATP6V1A_000025 12/13002 4/8600 8/4402 - - - - - - -
?/? c.879+48A>G r.(=) p.(=) g.113507770A>G Copied from the Exome Variant Server ATP6V1A_000026 1/12996 0/8600 1/4396 - - - - - - -
?/? c.880-30G>C r.(=) p.(=) g.113508549G>C Copied from the Exome Variant Server ATP6V1A_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.880-18_880-17insCTCCA r.(=) p.(=) g.113508561_113508562insCTCCA Copied from the Exome Variant Server ATP6V1A_000028 2/12520 2/8254 0/4266 - - - - - - -
?/? c.880-16T>C r.(=) p.(=) g.113508563T>C Copied from the Exome Variant Server ATP6V1A_000029 12/13006 4/8600 8/4406 - - - - - - -
?/? c.957T>G r.(=) p.(=) g.113508656T>G Copied from the Exome Variant Server ATP6V1A_000030 2/13006 2/8600 0/4406 - - - - - - -
?/? c.988+32C>T r.(=) p.(=) g.113508719C>T Copied from the Exome Variant Server ATP6V1A_000031 38/13006 37/8600 1/4406 - - - - - - -
?/? c.989-17T>C r.(=) p.(=) g.113513702T>C Copied from the Exome Variant Server ATP6V1A_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.989-8C>T r.(=) p.(=) g.113513711C>T Copied from the Exome Variant Server ATP6V1A_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1111+30C>T r.(=) p.(=) g.113513871C>T Copied from the Exome Variant Server ATP6V1A_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1164A>C r.(=) p.(=) g.113513989A>C Copied from the Exome Variant Server ATP6V1A_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1227-37del r.(=) p.(=) g.113514686del Copied from the Exome Variant Server ATP6V1A_000036 13/12514 5/8252 8/4262 - - - - - - -
?/? c.1227-19A>G r.(=) p.(=) g.113514704A>G Copied from the Exome Variant Server ATP6V1A_000037 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1260A>G r.(=) p.(=) g.113514756A>G Copied from the Exome Variant Server ATP6V1A_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1284C>T r.(=) p.(=) g.113514780C>T Copied from the Exome Variant Server ATP6V1A_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1287T>C r.(=) p.(=) g.113514783T>C Copied from the Exome Variant Server ATP6V1A_000040 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1290+7_1290+8insTT r.(=) p.(=) g.113514793_113514794insTT Copied from the Exome Variant Server ATP6V1A_000041 1/12520 1/8254 0/4266 - - - - - - -
?/? c.1290+44T>C r.(=) p.(=) g.113514830T>C Copied from the Exome Variant Server ATP6V1A_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1290+49G>T r.(=) p.(=) g.113514835G>T Copied from the Exome Variant Server ATP6V1A_000043 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1290+51A>G r.(=) p.(=) g.113514837A>G Copied from the Exome Variant Server ATP6V1A_000044 8/13004 0/8598 8/4406 - - - - - - -
?/? c.1291-23G>T r.(=) p.(=) g.113517067G>T Copied from the Exome Variant Server ATP6V1A_000045 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1291-15del r.(=) p.(=) g.113517075del Copied from the Exome Variant Server ATP6V1A_000046 36/12520 0/8254 36/4266 - - - - - - -
?/? c.1291-15_1291-14insT r.(=) p.(=) g.113517075_113517076insT Copied from the Exome Variant Server ATP6V1A_000047 62/12520 0/8254 62/4266 - - - - - - -
?/? c.1291-4T>C r.spl? p.? g.113517086T>C Copied from the Exome Variant Server ATP6V1A_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1391A>G r.(?) p.(Tyr464Cys) g.113517190A>G Copied from the Exome Variant Server ATP6V1A_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1394A>G r.(?) p.(Tyr465Cys) g.113517193A>G Copied from the Exome Variant Server ATP6V1A_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1470A>G r.(=) p.(=) g.113517269A>G Copied from the Exome Variant Server ATP6V1A_000051 56/13006 0/8600 56/4406 - - - - - - -
?/? c.1494+3G>T r.spl? p.? g.113517296G>T Copied from the Exome Variant Server ATP6V1A_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1494+26T>C r.(=) p.(=) g.113517319T>C Copied from the Exome Variant Server ATP6V1A_000053 79/13006 0/8600 79/4406 - - - - - - -
?/? c.1495-36A>G r.(=) p.(=) g.113522394A>G Copied from the Exome Variant Server ATP6V1A_000054 3/12972 0/8578 3/4394 - - - - - - -
?/? c.1495-34A>C r.(=) p.(=) g.113522396A>C Copied from the Exome Variant Server ATP6V1A_000055 1/12976 1/8578 0/4398 - - - - - - -
?/? c.1495-28T>A r.(=) p.(=) g.113522402T>A Copied from the Exome Variant Server ATP6V1A_000056 1/12978 0/8578 1/4400 - - - - - - -
?/? c.1551T>C r.(=) p.(=) g.113522486T>C Copied from the Exome Variant Server ATP6V1A_000057 2/13000 0/8594 2/4406 - - - - - - -
?/? c.1589+10A>G r.(=) p.(=) g.113522534A>G Copied from the Exome Variant Server ATP6V1A_000059 1/12996 1/8590 0/4406 - - - - - - -
?/? c.1589+20T>C r.(=) p.(=) g.113522544T>C Copied from the Exome Variant Server ATP6V1A_000061 3652/12992 2312/8586 1340/4406 - - - - - - -
?/? c.1589+47G>A r.(=) p.(=) g.113522571G>A Copied from the Exome Variant Server ATP6V1A_000063 12/12988 1/8584 11/4404 - - - - - - -
?/? c.1590-14T>G r.(=) p.(=) g.113524187T>G Copied from the Exome Variant Server ATP6V1A_000065 6/13006 4/8600 2/4406 - - - - - - -
?/? c.1617G>T r.(=) p.(=) g.113524228G>T Copied from the Exome Variant Server ATP6V1A_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1648A>G r.(?) p.(Met550Val) g.113524259A>G Copied from the Exome Variant Server ATP6V1A_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1688A>G r.(?) p.(Asn563Ser) g.113524299A>G Copied from the Exome Variant Server ATP6V1A_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1736A>G r.(?) p.(Tyr579Cys) g.113524347A>G Copied from the Exome Variant Server ATP6V1A_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1761+19G>A r.(=) p.(=) g.113524391G>A Copied from the Exome Variant Server ATP6V1A_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1761+30T>C r.(=) p.(=) g.113524402T>C Copied from the Exome Variant Server ATP6V1A_000066 30/13006 29/8600 1/4406 - - - - - - -
?/? c.1761+36G>T r.(=) p.(=) g.113524408G>T Copied from the Exome Variant Server ATP6V1A_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1761+37A>T r.(=) p.(=) g.113524409A>T Copied from the Exome Variant Server ATP6V1A_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1762-53G>A r.(=) p.(=) g.113528129G>A Copied from the Exome Variant Server ATP6V1A_000070 28/4566 0/3182 28/1384 - - - - - - -
?/? c.1762-43T>G r.(=) p.(=) g.113528139T>G Copied from the Exome Variant Server ATP6V1A_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1762-41A>G r.(=) p.(=) g.113528141A>G Copied from the Exome Variant Server ATP6V1A_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1762-33A>G r.(=) p.(=) g.113528149A>G Copied from the Exome Variant Server ATP6V1A_000073 51/13006 0/8600 51/4406 - - - - - - -
?/? c.1791C>A r.(=) p.(=) g.113528211C>A Copied from the Exome Variant Server ATP6V1A_000074 5/13006 4/8600 1/4406 - - - - - - -
?/? c.1797C>T r.(=) p.(=) g.113528217C>T Copied from the Exome Variant Server ATP6V1A_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1838G>C r.(?) p.(Arg613Pro) g.113528258G>C Copied from the Exome Variant Server ATP6V1A_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*4C>T r.(=) p.(=) g.113528278C>T Copied from the Exome Variant Server ATP6V1A_000077 109/13006 2/8600 107/4406 - - - - - - -
Legend