All transcript variants in gene ATP6V0A1

Information The variants shown are described using the NM_001130020.1 transcript reference sequence.

142 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.17G>A r.(?) p.(Arg6Gln) g.40612929G>A Copied from the Exome Variant Server ATP6V0A1_000001 6/13006 6/8600 0/4406
?/? c.42G>A r.(=) p.(=) g.40612954G>A Copied from the Exome Variant Server ATP6V0A1_000002 6/13006 5/8600 1/4406
?/? c.72T>C r.(=) p.(=) g.40612984T>C Copied from the Exome Variant Server ATP6V0A1_000003 3/13006 0/8600 3/4406
?/? c.117C>T r.(=) p.(=) g.40613029C>T Copied from the Exome Variant Server ATP6V0A1_000004 1/13006 0/8600 1/4406
?/? c.117+16G>A r.(=) p.(=) g.40613045G>A Copied from the Exome Variant Server ATP6V0A1_000005 1/13006 0/8600 1/4406
?/? c.117+17C>T r.(=) p.(=) g.40613046C>T Copied from the Exome Variant Server ATP6V0A1_000006 3/13006 0/8600 3/4406
?/? c.117+21G>A r.(=) p.(=) g.40613050G>A Copied from the Exome Variant Server ATP6V0A1_000007 1/13006 1/8600 0/4406
?/? c.118-22G>A r.(=) p.(=) g.40618425G>A Copied from the Exome Variant Server ATP6V0A1_000008 3/13006 1/8600 2/4406
?/? c.144A>G r.(=) p.(=) g.40618473A>G Copied from the Exome Variant Server ATP6V0A1_000009 1/13006 0/8600 1/4406
?/? c.185A>G r.(?) p.(Asp62Gly) g.40618514A>G Copied from the Exome Variant Server ATP6V0A1_000010 1/13006 1/8600 0/4406
?/? c.196+25A>G r.(=) p.(=) g.40618550A>G Copied from the Exome Variant Server ATP6V0A1_000011 6/13006 6/8600 0/4406
?/? c.196+27G>A r.(=) p.(=) g.40618552G>A Copied from the Exome Variant Server ATP6V0A1_000012 1/13006 0/8600 1/4406
?/? c.197-31A>G r.(=) p.(=) g.40619997A>G Copied from the Exome Variant Server ATP6V0A1_000013 1/13006 0/8600 1/4406
?/? c.282G>A r.(?) p.(Met94Ile) g.40620113G>A Copied from the Exome Variant Server ATP6V0A1_000014 3/13006 0/8600 3/4406
?/? c.294+45C>T r.(=) p.(=) g.40620170C>T Copied from the Exome Variant Server ATP6V0A1_000015 1/13006 0/8600 1/4406
?/? c.294+46G>A r.(=) p.(=) g.40620171G>A Copied from the Exome Variant Server ATP6V0A1_000016 1/13006 0/8600 1/4406
?/? c.294+48A>C r.(=) p.(=) g.40620173A>C Copied from the Exome Variant Server ATP6V0A1_000017 1/13006 1/8600 0/4406
?/? c.294+53T>G r.(=) p.(=) g.40620178T>G Copied from the Exome Variant Server ATP6V0A1_000018 45/4566 43/3182 2/1384
?/? c.295-22T>C r.(=) p.(=) g.40622086T>C Copied from the Exome Variant Server ATP6V0A1_000019 1/12972 1/8590 0/4382
?/? c.327G>A r.(=) p.(=) g.40622140G>A Copied from the Exome Variant Server ATP6V0A1_000020 1/13004 0/8598 1/4406
?/? c.331A>G r.(?) p.(Ile111Val) g.40622144A>G Copied from the Exome Variant Server ATP6V0A1_000021 1/13004 0/8598 1/4406
?/? c.333C>T r.(=) p.(=) g.40622146C>T Copied from the Exome Variant Server ATP6V0A1_000022 1/13004 1/8598 0/4406
?/? c.349G>A r.(?) p.(Ala117Thr) g.40622162G>A Copied from the Exome Variant Server ATP6V0A1_000023 1/13002 1/8596 0/4406
?/? c.378C>T r.(=) p.(=) g.40622191C>T Copied from the Exome Variant Server ATP6V0A1_000024 7/13002 0/8598 7/4404
?/? c.423+24A>G r.(=) p.(=) g.40622260A>G Copied from the Exome Variant Server ATP6V0A1_000025 2/12988 0/8594 2/4394
?/? c.423+30G>A r.(=) p.(=) g.40622266G>A Copied from the Exome Variant Server ATP6V0A1_000026 1/12982 1/8592 0/4390
?/? c.423+34C>T r.(=) p.(=) g.40622270C>T Copied from the Exome Variant Server ATP6V0A1_000027 1/12976 0/8590 1/4386
?/? c.424-29A>T r.(=) p.(=) g.40629628A>T Copied from the Exome Variant Server ATP6V0A1_000028 1/13006 0/8600 1/4406
?/? c.449C>T r.(?) p.(Ala150Val) g.40629682C>T Copied from the Exome Variant Server ATP6V0A1_000029 1/13006 0/8600 1/4406
?/? c.527+20T>C r.(=) p.(=) g.40629780T>C Copied from the Exome Variant Server ATP6V0A1_000030 2/13006 0/8600 2/4406
?/? c.527+23G>A r.(=) p.(=) g.40629783G>A Copied from the Exome Variant Server ATP6V0A1_000031 131/13006 0/8600 131/4406
?/? c.527+35G>A r.(=) p.(=) g.40629795G>A Copied from the Exome Variant Server ATP6V0A1_000032 2/13006 0/8600 2/4406
?/? c.527+49C>T r.(=) p.(=) g.40629809C>T Copied from the Exome Variant Server ATP6V0A1_000033 2/13006 1/8600 1/4406
?/? c.528-43A>G r.(=) p.(=) g.40630438A>G Copied from the Exome Variant Server ATP6V0A1_000034 3/13006 0/8600 3/4406
?/? c.528-8C>T r.(=) p.(=) g.40630473C>T Copied from the Exome Variant Server ATP6V0A1_000035 1/13006 0/8600 1/4406
?/? c.531C>T r.(=) p.(=) g.40630484C>T Copied from the Exome Variant Server ATP6V0A1_000036 5/13006 0/8600 5/4406
?/? c.558C>G r.(=) p.(=) g.40630511C>G Copied from the Exome Variant Server ATP6V0A1_000037 1/13006 0/8600 1/4406
?/? c.628G>A r.(?) p.(Glu210Lys) g.40630581G>A Copied from the Exome Variant Server ATP6V0A1_000038 2/13006 2/8600 0/4406
?/? c.654+32G>C r.(=) p.(=) g.40630639G>C Copied from the Exome Variant Server ATP6V0A1_000039 1/13006 0/8600 1/4406
?/? c.661T>C r.(?) p.(Tyr221His) g.40632691T>C Copied from the Exome Variant Server ATP6V0A1_000040 1/13006 1/8600 0/4406
?/? c.699C>T r.(=) p.(=) g.40632729C>T Copied from the Exome Variant Server ATP6V0A1_000041 400/13006 348/8600 52/4406
?/? c.720C>A r.(=) p.(=) g.40632750C>A Copied from the Exome Variant Server ATP6V0A1_000042 1/13006 0/8600 1/4406
?/? c.737+34G>A r.(=) p.(=) g.40632801G>A Copied from the Exome Variant Server ATP6V0A1_000043 1/13006 1/8600 0/4406
?/? c.737+37A>C r.(=) p.(=) g.40632804A>C Copied from the Exome Variant Server ATP6V0A1_000044 1/13006 0/8600 1/4406
?/? c.737+53G>A r.(=) p.(=) g.40632820G>A Copied from the Exome Variant Server ATP6V0A1_000045 2/4566 0/3182 2/1384
?/? c.738-35A>G r.(=) p.(=) g.40635021A>G Copied from the Exome Variant Server ATP6V0A1_000046 2/13006 0/8600 2/4406
?/? c.801A>G r.(=) p.(=) g.40635119A>G Copied from the Exome Variant Server ATP6V0A1_000047 55/13006 1/8600 54/4406
?/? c.818A>G r.(?) p.(Asp273Gly) g.40635136A>G Copied from the Exome Variant Server ATP6V0A1_000048 1/13006 1/8600 0/4406
?/? c.1044+29C>T r.(=) p.(=) g.40639414C>T Copied from the Exome Variant Server ATP6V0A1_000049 12/13006 12/8600 0/4406
?/? c.1044+30G>A r.(=) p.(=) g.40639415G>A Copied from the Exome Variant Server ATP6V0A1_000050 2/13006 0/8600 2/4406
?/? c.1044+37G>A r.(=) p.(=) g.40639422G>A Copied from the Exome Variant Server ATP6V0A1_000051 3989/13006 3417/8600 572/4406
?/? c.1045-41G>A r.(=) p.(=) g.40642464G>A Copied from the Exome Variant Server ATP6V0A1_000052 1/13006 0/8600 1/4406
?/? c.1051A>G r.(?) p.(Ser351Gly) g.40642511A>G Copied from the Exome Variant Server ATP6V0A1_000053 1/13006 0/8600 1/4406
?/? c.1063G>C r.(?) p.(Val355Leu) g.40642523G>C Copied from the Exome Variant Server ATP6V0A1_000054 1/13006 0/8600 1/4406
?/? c.1112A>G r.(?) p.(Tyr371Cys) g.40642572A>G Copied from the Exome Variant Server ATP6V0A1_000055 1/13006 0/8600 1/4406
?/? c.1195+3A>G r.spl? p.? g.40642658A>G Copied from the Exome Variant Server ATP6V0A1_000056 1/13006 0/8600 1/4406
?/? c.1195+26C>G r.(=) p.(=) g.40642681C>G Copied from the Exome Variant Server ATP6V0A1_000057 2/13002 2/8600 0/4402
?/? c.1195+35del r.(=) p.(=) g.40642690del Copied from the Exome Variant Server ATP6V0A1_000058 11/12472 7/8240 4/4232
?/? c.1195+41T>A r.(=) p.(=) g.40642696T>A Copied from the Exome Variant Server ATP6V0A1_000059 3/12974 0/8592 3/4382
?/? c.1196-46A>G r.(=) p.(=) g.40646306A>G Copied from the Exome Variant Server ATP6V0A1_000060 2/13002 2/8598 0/4404
?/? c.1200G>A r.(=) p.(=) g.40646356G>A Copied from the Exome Variant Server ATP6V0A1_000061 5/13006 0/8600 5/4406
?/? c.1251C>T r.(=) p.(=) g.40646407C>T Copied from the Exome Variant Server ATP6V0A1_000062 1/13006 1/8600 0/4406
?/? c.1273C>T r.(?) p.(Leu425Phe) g.40646429C>T Copied from the Exome Variant Server ATP6V0A1_000063 2/13006 2/8600 0/4406
?/? c.1307G>A r.(?) p.(Arg436Gln) g.40646463G>A Copied from the Exome Variant Server ATP6V0A1_000064 1/13006 1/8600 0/4406
?/? c.1336-8G>A r.(=) p.(=) g.40647044G>A Copied from the Exome Variant Server ATP6V0A1_000065 2/13006 0/8600 2/4406
?/? c.1474T>C r.(?) p.(Phe492Leu) g.40647190T>C Copied from the Exome Variant Server ATP6V0A1_000066 1/13006 0/8600 1/4406
?/? c.1490+27A>G r.(=) p.(=) g.40647233A>G Copied from the Exome Variant Server ATP6V0A1_000067 3/13006 2/8600 1/4406
?/? c.1491-44C>G r.(=) p.(=) g.40647600C>G Copied from the Exome Variant Server ATP6V0A1_000068 6/13006 0/8600 6/4406
?/? c.1491-6T>C r.(=) p.(=) g.40647638T>C Copied from the Exome Variant Server ATP6V0A1_000069 1/13006 0/8600 1/4406
?/? c.1499C>T r.(?) p.(Thr500Met) g.40647652C>T Copied from the Exome Variant Server ATP6V0A1_000070 2/13006 1/8600 1/4406
?/? c.1517T>C r.(?) p.(Val506Ala) g.40647670T>C Copied from the Exome Variant Server ATP6V0A1_000071 11/13006 0/8600 11/4406
?/? c.1519C>T r.(=) p.(=) g.40647672C>T Copied from the Exome Variant Server ATP6V0A1_000072 1/13006 0/8600 1/4406
?/? c.1581+21T>C r.(=) p.(=) g.40647755T>C Copied from the Exome Variant Server ATP6V0A1_000073 1/13006 1/8600 0/4406
?/? c.1581+26del r.(=) p.(=) g.40647760del Copied from the Exome Variant Server ATP6V0A1_000074 2/12518 2/8254 0/4264
?/? c.1581+26T>C r.(=) p.(=) g.40647760T>C Copied from the Exome Variant Server ATP6V0A1_000075 1/13006 1/8600 0/4406
?/? c.1581+35_1581+36insT r.(=) p.(=) g.40647769_40647770insT Copied from the Exome Variant Server ATP6V0A1_000076 1/12516 1/8254 0/4262
?/? c.1582-13C>G r.(=) p.(=) g.40650929C>G Copied from the Exome Variant Server ATP6V0A1_000077 54/13006 2/8600 52/4406
?/? c.1611G>A r.(=) p.(=) g.40650971G>A Copied from the Exome Variant Server ATP6V0A1_000078 69/13006 0/8600 69/4406
?/? c.1670T>C r.(?) p.(Phe557Ser) g.40651030T>C Copied from the Exome Variant Server ATP6V0A1_000079 1/13006 1/8600 0/4406
?/? c.1700T>C r.(?) p.(Ile567Thr) g.40651060T>C Copied from the Exome Variant Server ATP6V0A1_000080 29/13006 25/8600 4/4406
?/? c.1700+47T>A r.(=) p.(=) g.40651107T>A Copied from the Exome Variant Server ATP6V0A1_000081 1/13006 1/8600 0/4406
?/? c.1700+51T>A r.(=) p.(=) g.40651111T>A Copied from the Exome Variant Server ATP6V0A1_000082 1/13006 0/8600 1/4406
?/? c.1795T>C r.(?) p.(Tyr599His) g.40652819T>C Copied from the Exome Variant Server ATP6V0A1_000083 2/13006 2/8600 0/4406
?/? c.1805C>T r.(?) p.(Thr602Met) g.40652829C>T Copied from the Exome Variant Server ATP6V0A1_000084 8/13006 6/8600 2/4406
?/? c.1811A>G r.(?) p.(Tyr604Cys) g.40652835A>G Copied from the Exome Variant Server ATP6V0A1_000085 1/13006 0/8600 1/4406
?/? c.1855T>A r.(?) p.(Phe619Ile) g.40652879T>A Copied from the Exome Variant Server ATP6V0A1_000086 1/13006 0/8600 1/4406
?/? c.1899A>G r.(=) p.(=) g.40652923A>G Copied from the Exome Variant Server ATP6V0A1_000087 1/13006 1/8600 0/4406
?/? c.1900A>G r.(?) p.(Met634Val) g.40652924A>G Copied from the Exome Variant Server ATP6V0A1_000088 3/13006 3/8600 0/4406
?/? c.1918-47C>T r.(=) p.(=) g.40653168C>T Copied from the Exome Variant Server ATP6V0A1_000089 1/13006 1/8600 0/4406
?/? c.1918-40del r.(=) p.(=) g.40653175del Copied from the Exome Variant Server ATP6V0A1_000090 1/12518 1/8254 0/4264
?/? c.1918-16T>C r.(=) p.(=) g.40653199T>C Copied from the Exome Variant Server ATP6V0A1_000091 1/13006 1/8600 0/4406
?/? c.1943T>C r.(?) p.(Val648Ala) g.40653240T>C Copied from the Exome Variant Server ATP6V0A1_000092 4/13006 4/8600 0/4406
?/? c.1997G>A r.(?) p.(Arg666His) g.40653294G>A Copied from the Exome Variant Server ATP6V0A1_000093 1/13006 1/8600 0/4406
?/? c.1998C>T r.(=) p.(=) g.40653295C>T Copied from the Exome Variant Server ATP6V0A1_000094 1/13006 1/8600 0/4406
?/? c.2000G>A r.(?) p.(Arg667His) g.40653297G>A Copied from the Exome Variant Server ATP6V0A1_000095 1/13006 1/8600 0/4406
?/? c.2010G>C r.(?) p.(Leu670Phe) g.40653307G>C Copied from the Exome Variant Server ATP6V0A1_000096 1/13006 1/8600 0/4406
?/? c.2025+15A>G r.(=) p.(=) g.40653337A>G Copied from the Exome Variant Server ATP6V0A1_000097 1/13006 0/8600 1/4406
?/? c.2025+35_2025+39del r.(=) p.(=) g.40653357_40653361del Copied from the Exome Variant Server ATP6V0A1_000098 2194/12518 2006/8254 188/4264
?/? c.2026-31C>G r.(=) p.(=) g.40659507C>G Copied from the Exome Variant Server ATP6V0A1_000099 1/13006 1/8600 0/4406
?/? c.2110A>G r.(?) p.(Thr704Ala) g.40659622A>G Copied from the Exome Variant Server ATP6V0A1_000100 13/13006 12/8600 1/4406
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