Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.138733012A>CCA458150254ATP6V0A4c.1773T>G (p.Val591=)
c.999T>G (p.Val333=)
c.666T>G (p.Val222=)
7g.138733012A>GCA458150255ATP6V0A4c.1773T>C (p.Val591=)
c.999T>C (p.Val333=)
c.666T>C (p.Val222=)
7g.138733012A>TCA458150256ATP6V0A4c.1773T>A (p.Val591=)
c.999T>A (p.Val333=)
c.666T>A (p.Val222=)
7g.138733013A>CCA369379331ATP6V0A4c.1772T>G (p.Val591Gly)
c.998T>G (p.Val333Gly)
c.665T>G (p.Val222Gly)
7g.138733013A>GCA369379332ATP6V0A4c.1772T>C (p.Val591Ala)
c.998T>C (p.Val333Ala)
c.665T>C (p.Val222Ala)
7g.138733013A>TCA369379333ATP6V0A4c.1772T>A (p.Val591Asp)
c.998T>A (p.Val333Asp)
c.665T>A (p.Val222Asp)
7g.138733014C>ACA369379335ATP6V0A4c.1771G>T (p.Val591Phe)
c.997G>T (p.Val333Phe)
c.664G>T (p.Val222Phe)
7g.138733014C>GCA369379336ATP6V0A4c.1771G>C (p.Val591Leu)
c.997G>C (p.Val333Leu)
c.664G>C (p.Val222Leu)
7g.138733014C>TCA369379334ATP6V0A4c.1771G>A (p.Val591Ile)
c.997G>A (p.Val333Ile)
c.664G>A (p.Val222Ile)
7g.138733015C>ACA458150257ATP6V0A4c.1770G>T (p.Leu590=)
c.996G>T (p.Leu332=)
c.663G>T (p.Leu221=)
7g.138733015C>GCA458150258ATP6V0A4c.1770G>C (p.Leu590=)
c.996G>C (p.Leu332=)
c.663G>C (p.Leu221=)
7g.138733015C>TCA458150259ATP6V0A4c.1770G>A (p.Leu590=)
c.996G>A (p.Leu332=)
c.663G>A (p.Leu221=)
7g.138733016A>CCA369379337ATP6V0A4c.1769T>G (p.Leu590Arg)
c.995T>G (p.Leu332Arg)
c.662T>G (p.Leu221Arg)
7g.138733016A>GCA369379338ATP6V0A4c.1769T>C (p.Leu590Pro)
c.995T>C (p.Leu332Pro)
c.662T>C (p.Leu221Pro)
7g.138733016A>TCA369379339ATP6V0A4c.1769T>A (p.Leu590Gln)
c.995T>A (p.Leu332Gln)
c.662T>A (p.Leu221Gln)
 gnomAD v4
7g.138733017G>ACA458150264ATP6V0A4c.1768C>T (p.Leu590=)
c.994C>T (p.Leu332=)
c.661C>T (p.Leu221=)
 gnomAD v4
7g.138733017G>CCA369379340ATP6V0A4c.1768C>G (p.Leu590Val)
c.994C>G (p.Leu332Val)
c.661C>G (p.Leu221Val)
7g.138733017G>TCA369379341ATP6V0A4c.1768C>A (p.Leu590Met)
c.994C>A (p.Leu332Met)
c.661C>A (p.Leu221Met)
7g.138733018G>ACA458150266ATP6V0A4c.1767C>T (p.Tyr589=)
c.993C>T (p.Tyr331=)
c.660C>T (p.Tyr220=)
 dbSNP
7g.138733018G>CCA369379342ATP6V0A4c.1767C>G (p.Tyr589Ter)
c.993C>G (p.Tyr331Ter)
c.660C>G (p.Tyr220Ter)
7g.138733018G=CA1746776871ATP6V0A4c.1767C= (p.Tyr589=)
c.993C= (p.Tyr331=)
c.660C= (p.Tyr220=)
7g.138733018G>TCA369379343ATP6V0A4c.1767C>A (p.Tyr589Ter)
c.993C>A (p.Tyr331Ter)
c.660C>A (p.Tyr220Ter)
7g.138733019T>ACA369379344ATP6V0A4c.1766A>T (p.Tyr589Phe)
c.992A>T (p.Tyr331Phe)
c.659A>T (p.Tyr220Phe)
7g.138733019T>CCA369379346ATP6V0A4c.1766A>G (p.Tyr589Cys)
c.992A>G (p.Tyr331Cys)
c.659A>G (p.Tyr220Cys)
7g.138733019T>GCA369379345ATP6V0A4c.1766A>C (p.Tyr589Ser)
c.992A>C (p.Tyr331Ser)
c.659A>C (p.Tyr220Ser)
7g.138733020A>CCA369379347ATP6V0A4c.1765T>G (p.Tyr589Asp)
c.991T>G (p.Tyr331Asp)
c.658T>G (p.Tyr220Asp)
7g.138733020A>GCA369379348ATP6V0A4c.1765T>C (p.Tyr589His)
c.991T>C (p.Tyr331His)
c.658T>C (p.Tyr220His)
7g.138733020A>TCA369379349ATP6V0A4c.1765T>A (p.Tyr589Asn)
c.991T>A (p.Tyr331Asn)
c.658T>A (p.Tyr220Asn)
7g.138733021T>ACA4504656ATP6V0A4c.1764A>T (p.Gly588=)
c.990A>T (p.Gly330=)
c.657A>T (p.Gly219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733021T>CCA458150271ATP6V0A4c.1764A>G (p.Gly588=)
c.990A>G (p.Gly330=)
c.657A>G (p.Gly219=)
 gnomAD v4
7g.138733021T>GCA458150272ATP6V0A4c.1764A>C (p.Gly588=)
c.990A>C (p.Gly330=)
c.657A>C (p.Gly219=)
7g.138733021T=CA1746776872ATP6V0A4c.1764A= (p.Gly588=)
c.990A= (p.Gly330=)
c.657A= (p.Gly219=)
7g.138733021_138733022insTTCTGCTATTTTTTTTTTTTTTACA1746776873ATP6V0A4c.1763_1764insTAAAAAAAAAAAAAATAGCAGAA (p.Tyr589LysfsTer13)
c.989_990insTAAAAAAAAAAAAAATAGCAGAA (p.Tyr331LysfsTer13)
c.656_657insTAAAAAAAAAAAAAATAGCAGAA (p.Tyr220LysfsTer13)
 dbSNP
7g.138733022C>ACA369379350ATP6V0A4c.1763G>T (p.Gly588Val)
c.989G>T (p.Gly330Val)
c.656G>T (p.Gly219Val)
7g.138733022C>GCA369379352ATP6V0A4c.1763G>C (p.Gly588Ala)
c.989G>C (p.Gly330Ala)
c.656G>C (p.Gly219Ala)
7g.138733022C>TCA369379351ATP6V0A4c.1763G>A (p.Gly588Glu)
c.989G>A (p.Gly330Glu)
c.656G>A (p.Gly219Glu)
7g.138733023C>ACA369379353ATP6V0A4c.1762G>T (p.Gly588Ter)
c.988G>T (p.Gly330Ter)
c.655G>T (p.Gly219Ter)
7g.138733023C>GCA369379354ATP6V0A4c.1762G>C (p.Gly588Arg)
c.988G>C (p.Gly330Arg)
c.655G>C (p.Gly219Arg)
7g.138733023C>TCA369379355ATP6V0A4c.1762G>A (p.Gly588Arg)
c.988G>A (p.Gly330Arg)
c.655G>A (p.Gly219Arg)
7g.138733024A=CA1746776874ATP6V0A4c.1761T= (p.Phe587=)
c.987T= (p.Phe329=)
c.654T= (p.Phe218=)
7g.138733024A>CCA369379356ATP6V0A4c.1761T>G (p.Phe587Leu)
c.987T>G (p.Phe329Leu)
c.654T>G (p.Phe218Leu)
7g.138733024A>GCA458150276ATP6V0A4c.1761T>C (p.Phe587=)
c.987T>C (p.Phe329=)
c.654T>C (p.Phe218=)
7g.138733024A>TCA369379357ATP6V0A4c.1761T>A (p.Phe587Leu)
c.987T>A (p.Phe329Leu)
c.654T>A (p.Phe218Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.138733025A>CCA369379358ATP6V0A4c.1760T>G (p.Phe587Cys)
c.986T>G (p.Phe329Cys)
c.653T>G (p.Phe218Cys)
 gnomAD v4
7g.138733025A>GCA369379359ATP6V0A4c.1760T>C (p.Phe587Ser)
c.986T>C (p.Phe329Ser)
c.653T>C (p.Phe218Ser)
 gnomAD v4
7g.138733025A>TCA369379360ATP6V0A4c.1760T>A (p.Phe587Tyr)
c.986T>A (p.Phe329Tyr)
c.653T>A (p.Phe218Tyr)
7g.138733026A=CA1746776875ATP6V0A4c.1759T= (p.Phe587=)
c.985T= (p.Phe329=)
c.652T= (p.Phe218=)
7g.138733026A>CCA369379361ATP6V0A4c.1759T>G (p.Phe587Val)
c.985T>G (p.Phe329Val)
c.652T>G (p.Phe218Val)
7g.138733026A>GCA4504657ATP6V0A4c.1759T>C (p.Phe587Leu)
c.985T>C (p.Phe329Leu)
c.652T>C (p.Phe218Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733026A>TCA369379362ATP6V0A4c.1759T>A (p.Phe587Ile)
c.985T>A (p.Phe329Ile)
c.652T>A (p.Phe218Ile)
7g.138733027C>ACA458150280ATP6V0A4c.1758G>T (p.Leu586=)
c.984G>T (p.Leu328=)
c.651G>T (p.Leu217=)
7g.138733027C>GCA458150281ATP6V0A4c.1758G>C (p.Leu586=)
c.984G>C (p.Leu328=)
c.651G>C (p.Leu217=)
 COSMIC
7g.138733027C>TCA458150279ATP6V0A4c.1758G>A (p.Leu586=)
c.984G>A (p.Leu328=)
c.651G>A (p.Leu217=)
 COSMIC
7g.138733028A>CCA369379365ATP6V0A4c.1757T>G (p.Leu586Arg)
c.983T>G (p.Leu328Arg)
c.650T>G (p.Leu217Arg)
7g.138733028A>GCA369379364ATP6V0A4c.1757T>C (p.Leu586Pro)
c.983T>C (p.Leu328Pro)
c.650T>C (p.Leu217Pro)
7g.138733028A>TCA369379363ATP6V0A4c.1757T>A (p.Leu586Gln)
c.983T>A (p.Leu328Gln)
c.650T>A (p.Leu217Gln)
7g.138733028_138733029insCACCCCA2778102838ATP6V0A4c.1756_1757insGGGTG (p.Leu586ArgfsTer10)
c.982_983insGGGTG (p.Leu328ArgfsTer10)
c.649_650insGGGTG (p.Leu217ArgfsTer10)
7g.138733029G>ACA4504658ATP6V0A4c.1756C>T (p.Leu586=)
c.982C>T (p.Leu328=)
c.649C>T (p.Leu217=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733029G>CCA369379367ATP6V0A4c.1756C>G (p.Leu586Val)
c.982C>G (p.Leu328Val)
c.649C>G (p.Leu217Val)
7g.138733029G=CA1746776876ATP6V0A4c.1756C= (p.Leu586=)
c.982C= (p.Leu328=)
c.649C= (p.Leu217=)
7g.138733029G>TCA369379366ATP6V0A4c.1756C>A (p.Leu586Met)
c.982C>A (p.Leu328Met)
c.649C>A (p.Leu217Met)
7g.138733030A=CA1746776877ATP6V0A4c.1755T= (p.Cys585=)
c.981T= (p.Cys327=)
c.648T= (p.Cys216=)
7g.138733030A>CCA369379368ATP6V0A4c.1755T>G (p.Cys585Trp)
c.981T>G (p.Cys327Trp)
c.648T>G (p.Cys216Trp)
7g.138733030A>GCA458150284ATP6V0A4c.1755T>C (p.Cys585=)
c.981T>C (p.Cys327=)
c.648T>C (p.Cys216=)
 dbSNP gnomAD v4
7g.138733030A>TCA369379369ATP6V0A4c.1755T>A (p.Cys585Ter)
c.981T>A (p.Cys327Ter)
c.648T>A (p.Cys216Ter)
 ClinVar dbSNP
7g.138733031C>ACA369379370ATP6V0A4c.1754G>T (p.Cys585Phe)
c.980G>T (p.Cys327Phe)
c.647G>T (p.Cys216Phe)
7g.138733031C>GCA369379371ATP6V0A4c.1754G>C (p.Cys585Ser)
c.980G>C (p.Cys327Ser)
c.647G>C (p.Cys216Ser)
7g.138733031C>TCA369379372ATP6V0A4c.1754G>A (p.Cys585Tyr)
c.980G>A (p.Cys327Tyr)
c.647G>A (p.Cys216Tyr)
7g.138733032A>CCA369379373ATP6V0A4c.1753T>G (p.Cys585Gly)
c.979T>G (p.Cys327Gly)
c.646T>G (p.Cys216Gly)
7g.138733032A>GCA369379374ATP6V0A4c.1753T>C (p.Cys585Arg)
c.979T>C (p.Cys327Arg)
c.646T>C (p.Cys216Arg)
7g.138733032A>TCA369379375ATP6V0A4c.1753T>A (p.Cys585Ser)
c.979T>A (p.Cys327Ser)
c.646T>A (p.Cys216Ser)
7g.138733033C>ACA458150286ATP6V0A4c.1752G>T (p.Leu584=)
c.978G>T (p.Leu326=)
c.645G>T (p.Leu215=)
7g.138733033C>GCA458150288ATP6V0A4c.1752G>C (p.Leu584=)
c.978G>C (p.Leu326=)
c.645G>C (p.Leu215=)
7g.138733033C>TCA458150289ATP6V0A4c.1752G>A (p.Leu584=)
c.978G>A (p.Leu326=)
c.645G>A (p.Leu215=)
7g.138733034A>CCA369379376ATP6V0A4c.1751T>G (p.Leu584Arg)
c.977T>G (p.Leu326Arg)
c.644T>G (p.Leu215Arg)
7g.138733034A>GCA369379377ATP6V0A4c.1751T>C (p.Leu584Pro)
c.977T>C (p.Leu326Pro)
c.644T>C (p.Leu215Pro)
7g.138733034A>TCA369379378ATP6V0A4c.1751T>A (p.Leu584Gln)
c.977T>A (p.Leu326Gln)
c.644T>A (p.Leu215Gln)
7g.138733035G>ACA458150291ATP6V0A4c.1750C>T (p.Leu584=)
c.976C>T (p.Leu326=)
c.643C>T (p.Leu215=)
7g.138733035G>CCA369379380ATP6V0A4c.1750C>G (p.Leu584Val)
c.976C>G (p.Leu326Val)
c.643C>G (p.Leu215Val)
 dbSNP gnomAD v4
7g.138733035G=CA1746776878ATP6V0A4c.1750C= (p.Leu584=)
c.976C= (p.Leu326=)
c.643C= (p.Leu215=)
7g.138733035G>TCA369379379ATP6V0A4c.1750C>A (p.Leu584Met)
c.976C>A (p.Leu326Met)
c.643C>A (p.Leu215Met)
 COSMIC
7g.138733036G>ACA458150292ATP6V0A4c.1749C>T (p.Ile583=)
c.975C>T (p.Ile325=)
c.642C>T (p.Ile214=)
 dbSNP COSMIC
7g.138733036G>CCA4504659ATP6V0A4c.1749C>G (p.Ile583Met)
c.975C>G (p.Ile325Met)
c.642C>G (p.Ile214Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733036G=CA1746776879ATP6V0A4c.1749C= (p.Ile583=)
c.975C= (p.Ile325=)
c.642C= (p.Ile214=)
7g.138733036G>TCA458150294ATP6V0A4c.1749C>A (p.Ile583=)
c.975C>A (p.Ile325=)
c.642C>A (p.Ile214=)
7g.138733037A>CCA369379381ATP6V0A4c.1748T>G (p.Ile583Ser)
c.974T>G (p.Ile325Ser)
c.641T>G (p.Ile214Ser)
7g.138733037A>GCA369379382ATP6V0A4c.1748T>C (p.Ile583Thr)
c.974T>C (p.Ile325Thr)
c.641T>C (p.Ile214Thr)
7g.138733037A>TCA369379383ATP6V0A4c.1748T>A (p.Ile583Asn)
c.974T>A (p.Ile325Asn)
c.641T>A (p.Ile214Asn)
7g.138733038T>ACA369379384ATP6V0A4c.1747A>T (p.Ile583Phe)
c.973A>T (p.Ile325Phe)
c.640A>T (p.Ile214Phe)
7g.138733038T>CCA369379385ATP6V0A4c.1747A>G (p.Ile583Val)
c.973A>G (p.Ile325Val)
c.640A>G (p.Ile214Val)
7g.138733038T>GCA369379386ATP6V0A4c.1747A>C (p.Ile583Leu)
c.973A>C (p.Ile325Leu)
c.640A>C (p.Ile214Leu)
7g.138733039A>CCA369379387ATP6V0A4c.1746T>G (p.Phe582Leu)
c.972T>G (p.Phe324Leu)
c.639T>G (p.Phe213Leu)
7g.138733039A>GCA458150301ATP6V0A4c.1746T>C (p.Phe582=)
c.972T>C (p.Phe324=)
c.639T>C (p.Phe213=)
7g.138733039A>TCA369379388ATP6V0A4c.1746T>A (p.Phe582Leu)
c.972T>A (p.Phe324Leu)
c.639T>A (p.Phe213Leu)
7g.138733040A>CCA369379389ATP6V0A4c.1745T>G (p.Phe582Cys)
c.971T>G (p.Phe324Cys)
c.638T>G (p.Phe213Cys)
 COSMIC
7g.138733040A>GCA369379390ATP6V0A4c.1745T>C (p.Phe582Ser)
c.971T>C (p.Phe324Ser)
c.638T>C (p.Phe213Ser)
7g.138733040A>TCA369379391ATP6V0A4c.1745T>A (p.Phe582Tyr)
c.971T>A (p.Phe324Tyr)
c.638T>A (p.Phe213Tyr)
7g.138733041A>CCA369379393ATP6V0A4c.1744T>G (p.Phe582Val)
c.970T>G (p.Phe324Val)
c.637T>G (p.Phe213Val)
7g.138733041A>GCA369379394ATP6V0A4c.1744T>C (p.Phe582Leu)
c.970T>C (p.Phe324Leu)
c.637T>C (p.Phe213Leu)
7g.138733041A>TCA369379392ATP6V0A4c.1744T>A (p.Phe582Ile)
c.970T>A (p.Phe324Ile)
c.637T>A (p.Phe213Ile)
7g.138733042A>CCA369379395ATP6V0A4c.1743T>G (p.Ile581Met)
c.969T>G (p.Ile323Met)
c.636T>G (p.Ile212Met)
7g.138733042A>GCA458150243ATP6V0A4c.1743T>C (p.Ile581=)
c.969T>C (p.Ile323=)
c.636T>C (p.Ile212=)
7g.138733042A>TCA458150244ATP6V0A4c.1743T>A (p.Ile581=)
c.969T>A (p.Ile323=)
c.636T>A (p.Ile212=)
7g.138733043A>CCA369379396ATP6V0A4c.1742T>G (p.Ile581Ser)
c.968T>G (p.Ile323Ser)
c.635T>G (p.Ile212Ser)
7g.138733043A>GCA369379397ATP6V0A4c.1742T>C (p.Ile581Thr)
c.968T>C (p.Ile323Thr)
c.635T>C (p.Ile212Thr)
7g.138733043A>TCA369379398ATP6V0A4c.1742T>A (p.Ile581Asn)
c.968T>A (p.Ile323Asn)
c.635T>A (p.Ile212Asn)
7g.138733044T>ACA369379399ATP6V0A4c.1741A>T (p.Ile581Phe)
c.967A>T (p.Ile323Phe)
c.634A>T (p.Ile212Phe)
7g.138733044T>CCA369379400ATP6V0A4c.1741A>G (p.Ile581Val)
c.967A>G (p.Ile323Val)
c.634A>G (p.Ile212Val)
 dbSNP gnomAD v3 gnomAD v4
7g.138733044T>GCA369379401ATP6V0A4c.1741A>C (p.Ile581Leu)
c.967A>C (p.Ile323Leu)
c.634A>C (p.Ile212Leu)
7g.138733044T=CA1746776880ATP6V0A4c.1741A= (p.Ile581=)
c.967A= (p.Ile323=)
c.634A= (p.Ile212=)
7g.138733045C>ACA369379402ATP6V0A4c.1740G>T (p.Met580Ile)
c.966G>T (p.Met322Ile)
c.633G>T (p.Met211Ile)
7g.138733045C=CA1746776881ATP6V0A4c.1740G= (p.Met580=)
c.966G= (p.Met322=)
c.633G= (p.Met211=)
7g.138733045C>GCA369379403ATP6V0A4c.1740G>C (p.Met580Ile)
c.966G>C (p.Met322Ile)
c.633G>C (p.Met211Ile)
 gnomAD v4
7g.138733045C>TCA4504660ATP6V0A4c.1740G>A (p.Met580Ile)
c.966G>A (p.Met322Ile)
c.633G>A (p.Met211Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.138733045_138733046delinsTGCA2580077501ATP6V0A4c.1739_1740delinsCA (p.Met580Thr)
c.965_966delinsCA (p.Met322Thr)
c.632_633delinsCA (p.Met211Thr)
 ClinVar
7g.138733046A=CA1630834986ATP6V0A4c.1739T= (p.Met580=)
c.965T= (p.Met322=)
c.632T= (p.Met211=)
7g.138733046A>CCA369379404ATP6V0A4c.1739T>G (p.Met580Arg)
c.965T>G (p.Met322Arg)
c.632T>G (p.Met211Arg)
7g.138733046A>GCA117293ATP6V0A4c.1739T>C (p.Met580Thr)
c.965T>C (p.Met322Thr)
c.632T>C (p.Met211Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733046A>TCA369379405ATP6V0A4c.1739T>A (p.Met580Lys)
c.965T>A (p.Met322Lys)
c.632T>A (p.Met211Lys)
7g.138733047T>ACA369379408ATP6V0A4c.1738A>T (p.Met580Leu)
c.964A>T (p.Met322Leu)
c.631A>T (p.Met211Leu)
7g.138733047T>CCA369379407ATP6V0A4c.1738A>G (p.Met580Val)
c.964A>G (p.Met322Val)
c.631A>G (p.Met211Val)
7g.138733047T>GCA369379406ATP6V0A4c.1738A>C (p.Met580Leu)
c.964A>C (p.Met322Leu)
c.631A>C (p.Met211Leu)
7g.138733048C>ACA369379409ATP6V0A4c.1737G>T (p.Glu579Asp)
c.963G>T (p.Glu321Asp)
c.630G>T (p.Glu210Asp)
7g.138733048C=CA1746776882ATP6V0A4c.1737G= (p.Glu579=)
c.963G= (p.Glu321=)
c.630G= (p.Glu210=)
7g.138733048C>GCA369379410ATP6V0A4c.1737G>C (p.Glu579Asp)
c.963G>C (p.Glu321Asp)
c.630G>C (p.Glu210Asp)
7g.138733048C>TCA4504661ATP6V0A4c.1737G>A (p.Glu579=)
c.963G>A (p.Glu321=)
c.630G>A (p.Glu210=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733049T>ACA369379411ATP6V0A4c.1736A>T (p.Glu579Val)
c.962A>T (p.Glu321Val)
c.629A>T (p.Glu210Val)
7g.138733049T>CCA369379412ATP6V0A4c.1736A>G (p.Glu579Gly)
c.962A>G (p.Glu321Gly)
c.629A>G (p.Glu210Gly)
 gnomAD v4
7g.138733049T>GCA369379413ATP6V0A4c.1736A>C (p.Glu579Ala)
c.962A>C (p.Glu321Ala)
c.629A>C (p.Glu210Ala)
 gnomAD v4
7g.138733050C>ACA369379414ATP6V0A4c.1735G>T (p.Glu579Ter)
c.961G>T (p.Glu321Ter)
c.628G>T (p.Glu210Ter)
7g.138733050C=CA1746776883ATP6V0A4c.1735G= (p.Glu579=)
c.961G= (p.Glu321=)
c.628G= (p.Glu210=)
7g.138733050C>GCA369379415ATP6V0A4c.1735G>C (p.Glu579Gln)
c.961G>C (p.Glu321Gln)
c.628G>C (p.Glu210Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138733050C>TCA369379416ATP6V0A4c.1735G>A (p.Glu579Lys)
c.961G>A (p.Glu321Lys)
c.628G>A (p.Glu210Lys)
7g.138733051A>CCA458150260ATP6V0A4c.1734T>G (p.Pro578=)
c.960T>G (p.Pro320=)
c.627T>G (p.Pro209=)
 gnomAD v4
7g.138733051A>GCA458150261ATP6V0A4c.1734T>C (p.Pro578=)
c.960T>C (p.Pro320=)
c.627T>C (p.Pro209=)
7g.138733051A>TCA458150263ATP6V0A4c.1734T>A (p.Pro578=)
c.960T>A (p.Pro320=)
c.627T>A (p.Pro209=)
7g.138733052G>ACA369379417ATP6V0A4c.1733C>T (p.Pro578Leu)
c.959C>T (p.Pro320Leu)
c.626C>T (p.Pro209Leu)
 ClinVar dbSNP
7g.138733052G>CCA369379418ATP6V0A4c.1733C>G (p.Pro578Arg)
c.959C>G (p.Pro320Arg)
c.626C>G (p.Pro209Arg)
7g.138733052G=CA1746776884ATP6V0A4c.1733C= (p.Pro578=)
c.959C= (p.Pro320=)
c.626C= (p.Pro209=)
7g.138733052G>TCA369379419ATP6V0A4c.1733C>A (p.Pro578His)
c.959C>A (p.Pro320His)
c.626C>A (p.Pro209His)
7g.138733053G>ACA369379422ATP6V0A4c.1732C>T (p.Pro578Ser)
c.958C>T (p.Pro320Ser)
c.625C>T (p.Pro209Ser)
 dbSNP gnomAD v2
7g.138733053G>CCA369379421ATP6V0A4c.1732C>G (p.Pro578Ala)
c.958C>G (p.Pro320Ala)
c.625C>G (p.Pro209Ala)
 gnomAD v4
7g.138733053G=CA1746776885ATP6V0A4c.1732C= (p.Pro578=)
c.958C= (p.Pro320=)
c.625C= (p.Pro209=)
7g.138733053G>TCA369379420ATP6V0A4c.1732C>A (p.Pro578Thr)
c.958C>A (p.Pro320Thr)
c.625C>A (p.Pro209Thr)
 COSMIC
7g.138733054G>ACA458150270ATP6V0A4c.1731C>T (p.Ile577=)
c.957C>T (p.Ile319=)
c.624C>T (p.Ile208=)
 dbSNP gnomAD v4
7g.138733054G>CCA369379423ATP6V0A4c.1731C>G (p.Ile577Met)
c.957C>G (p.Ile319Met)
c.624C>G (p.Ile208Met)
7g.138733054G=CA1746776886ATP6V0A4c.1731C= (p.Ile577=)
c.957C= (p.Ile319=)
c.624C= (p.Ile208=)
7g.138733054G>TCA458150273ATP6V0A4c.1731C>A (p.Ile577=)
c.957C>A (p.Ile319=)
c.624C>A (p.Ile208=)
7g.138733055A>CCA369379425ATP6V0A4c.1730T>G (p.Ile577Ser)
c.956T>G (p.Ile319Ser)
c.623T>G (p.Ile208Ser)
7g.138733055A>GCA369379424ATP6V0A4c.1730T>C (p.Ile577Thr)
c.956T>C (p.Ile319Thr)
c.623T>C (p.Ile208Thr)
7g.138733055A>TCA369379426ATP6V0A4c.1730T>A (p.Ile577Asn)
c.956T>A (p.Ile319Asn)
c.623T>A (p.Ile208Asn)
7g.138733055_138733056delinsATCA1746776887ATP6V0A4c.1729_1730delinsAT (p.Ile577=)
c.955_956delinsAT (p.Ile319=)
c.622_623delinsAT (p.Ile208=)
7g.138733056delCA913189644ATP6V0A4c.1729del (p.Ile577SerfsTer4)
c.955del (p.Ile319SerfsTer4)
c.622del (p.Ile208SerfsTer4)
 ClinVar dbSNP
7g.138733056T>ACA369379427ATP6V0A4c.1729A>T (p.Ile577Phe)
c.955A>T (p.Ile319Phe)
c.622A>T (p.Ile208Phe)
7g.138733056T>CCA369379429ATP6V0A4c.1729A>G (p.Ile577Val)
c.955A>G (p.Ile319Val)
c.622A>G (p.Ile208Val)
7g.138733056T>GCA369379428ATP6V0A4c.1729A>C (p.Ile577Leu)
c.955A>C (p.Ile319Leu)
c.622A>C (p.Ile208Leu)
 gnomAD v4
7g.138733057A>CCA369379430ATP6V0A4c.1728T>G (p.Phe576Leu)
c.954T>G (p.Phe318Leu)
c.621T>G (p.Phe207Leu)
7g.138733057A>GCA458150278ATP6V0A4c.1728T>C (p.Phe576=)
c.954T>C (p.Phe318=)
c.621T>C (p.Phe207=)
7g.138733057A>TCA369379431ATP6V0A4c.1728T>A (p.Phe576Leu)
c.954T>A (p.Phe318Leu)
c.621T>A (p.Phe207Leu)
7g.138733058A=CA1746776888ATP6V0A4c.1727T= (p.Phe576=)
c.953T= (p.Phe318=)
c.620T= (p.Phe207=)
7g.138733058A>CCA369379432ATP6V0A4c.1727T>G (p.Phe576Cys)
c.953T>G (p.Phe318Cys)
c.620T>G (p.Phe207Cys)
7g.138733058A>GCA369379433ATP6V0A4c.1727T>C (p.Phe576Ser)
c.953T>C (p.Phe318Ser)
c.620T>C (p.Phe207Ser)
7g.138733058A>TCA369379434ATP6V0A4c.1727T>A (p.Phe576Tyr)
c.953T>A (p.Phe318Tyr)
c.620T>A (p.Phe207Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.138733059A>CCA369379435ATP6V0A4c.1726T>G (p.Phe576Val)
c.952T>G (p.Phe318Val)
c.619T>G (p.Phe207Val)
7g.138733059A>GCA369379436ATP6V0A4c.1726T>C (p.Phe576Leu)
c.952T>C (p.Phe318Leu)
c.619T>C (p.Phe207Leu)
7g.138733059A>TCA369379437ATP6V0A4c.1726T>A (p.Phe576Ile)
c.952T>A (p.Phe318Ile)
c.619T>A (p.Phe207Ile)
7g.138733060T>ACA369379438ATP6V0A4c.1725A>T (p.Gln575His)
c.951A>T (p.Gln317His)
c.618A>T (p.Gln206His)
7g.138733060T>CCA4504662ATP6V0A4c.1725A>G (p.Gln575=)
c.951A>G (p.Gln317=)
c.618A>G (p.Gln206=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733060T>GCA369379439ATP6V0A4c.1725A>C (p.Gln575His)
c.951A>C (p.Gln317His)
c.618A>C (p.Gln206His)
7g.138733060T=CA1746776889ATP6V0A4c.1725A= (p.Gln575=)
c.951A= (p.Gln317=)
c.618A= (p.Gln206=)
7g.138733061T>ACA369379440ATP6V0A4c.1724A>T (p.Gln575Leu)
c.950A>T (p.Gln317Leu)
c.617A>T (p.Gln206Leu)
7g.138733061T>CCA369379441ATP6V0A4c.1724A>G (p.Gln575Arg)
c.950A>G (p.Gln317Arg)
c.617A>G (p.Gln206Arg)
 gnomAD v4
7g.138733061T>GCA369379442ATP6V0A4c.1724A>C (p.Gln575Pro)
c.950A>C (p.Gln317Pro)
c.617A>C (p.Gln206Pro)
7g.138733062G>ACA369379445ATP6V0A4c.1723C>T (p.Gln575Ter)
c.949C>T (p.Gln317Ter)
c.616C>T (p.Gln206Ter)
 dbSNP gnomAD v3 gnomAD v4
7g.138733062G>CCA369379443ATP6V0A4c.1723C>G (p.Gln575Glu)
c.949C>G (p.Gln317Glu)
c.616C>G (p.Gln206Glu)
7g.138733062G=CA1746776890ATP6V0A4c.1723C= (p.Gln575=)
c.949C= (p.Gln317=)
c.616C= (p.Gln206=)
7g.138733062G>TCA369379444ATP6V0A4c.1723C>A (p.Gln575Lys)
c.949C>A (p.Gln317Lys)
c.616C>A (p.Gln206Lys)
7g.138733063C>ACA458150293ATP6V0A4c.1722G>T (p.Leu574=)
c.948G>T (p.Leu316=)
c.615G>T (p.Leu205=)
7g.138733063C>GCA458150295ATP6V0A4c.1722G>C (p.Leu574=)
c.948G>C (p.Leu316=)
c.615G>C (p.Leu205=)
7g.138733063C>TCA458150296ATP6V0A4c.1722G>A (p.Leu574=)
c.948G>A (p.Leu316=)
c.615G>A (p.Leu205=)
 gnomAD v4
7g.138733064A>CCA369379446ATP6V0A4c.1721T>G (p.Leu574Arg)
c.947T>G (p.Leu316Arg)
c.614T>G (p.Leu205Arg)
7g.138733064A>GCA369379447ATP6V0A4c.1721T>C (p.Leu574Pro)
c.947T>C (p.Leu316Pro)
c.614T>C (p.Leu205Pro)
7g.138733064A>TCA369379448ATP6V0A4c.1721T>A (p.Leu574Gln)
c.947T>A (p.Leu316Gln)
c.614T>A (p.Leu205Gln)
7g.138733065G>ACA458150302ATP6V0A4c.1720C>T (p.Leu574=)
c.946C>T (p.Leu316=)
c.613C>T (p.Leu205=)
7g.138733065G>CCA369379449ATP6V0A4c.1720C>G (p.Leu574Val)
c.946C>G (p.Leu316Val)
c.613C>G (p.Leu205Val)
7g.138733065G>TCA369379450ATP6V0A4c.1720C>A (p.Leu574Met)
c.946C>A (p.Leu316Met)
c.613C>A (p.Leu205Met)
7g.138733066_138733072dupCA2685127695ATP6V0A4c.1714_1720dup (p.Leu574HisfsTer8)
c.940_946dup (p.Leu316HisfsTer8)
c.607_613dup (p.Leu205HisfsTer8)
 gnomAD v4
7g.138733066A=CA1746776891ATP6V0A4c.1719T= (p.Ile573=)
c.945T= (p.Ile315=)
c.612T= (p.Ile204=)
7g.138733066A>CCA369379451ATP6V0A4c.1719T>G (p.Ile573Met)
c.945T>G (p.Ile315Met)
c.612T>G (p.Ile204Met)
7g.138733066A>GCA4504663ATP6V0A4c.1719T>C (p.Ile573=)
c.945T>C (p.Ile315=)
c.612T>C (p.Ile204=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733066A>TCA458150304ATP6V0A4c.1719T>A (p.Ile573=)
c.945T>A (p.Ile315=)
c.612T>A (p.Ile204=)
7g.138733067A>CCA369379452ATP6V0A4c.1718T>G (p.Ile573Ser)
c.944T>G (p.Ile315Ser)
c.611T>G (p.Ile204Ser)
7g.138733067A>GCA369379453ATP6V0A4c.1718T>C (p.Ile573Thr)
c.944T>C (p.Ile315Thr)
c.611T>C (p.Ile204Thr)
7g.138733067A>TCA369379454ATP6V0A4c.1718T>A (p.Ile573Asn)
c.944T>A (p.Ile315Asn)
c.611T>A (p.Ile204Asn)
7g.138733068T>ACA369379456ATP6V0A4c.1717A>T (p.Ile573Phe)
c.943A>T (p.Ile315Phe)
c.610A>T (p.Ile204Phe)
7g.138733068T>CCA4504664ATP6V0A4c.1717A>G (p.Ile573Val)
c.943A>G (p.Ile315Val)
c.610A>G (p.Ile204Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.138733068T>GCA369379455ATP6V0A4c.1717A>C (p.Ile573Leu)
c.943A>C (p.Ile315Leu)
c.610A>C (p.Ile204Leu)
7g.138733068T=CA1746776892ATP6V0A4c.1717A= (p.Ile573=)
c.943A= (p.Ile315=)
c.610A= (p.Ile204=)
7g.138733069G>ACA458150306ATP6V0A4c.1716C>T (p.Ile572=)
c.942C>T (p.Ile314=)
c.609C>T (p.Ile203=)
 gnomAD v4
7g.138733069G>CCA369379457ATP6V0A4c.1716C>G (p.Ile572Met)
c.942C>G (p.Ile314Met)
c.609C>G (p.Ile203Met)
7g.138733069G>TCA458150307ATP6V0A4c.1716C>A (p.Ile572=)
c.942C>A (p.Ile314=)
c.609C>A (p.Ile203=)
7g.138733070A>CCA369379458ATP6V0A4c.1715T>G (p.Ile572Ser)
c.941T>G (p.Ile314Ser)
c.608T>G (p.Ile203Ser)
7g.138733070A>GCA369379459ATP6V0A4c.1715T>C (p.Ile572Thr)
c.941T>C (p.Ile314Thr)
c.608T>C (p.Ile203Thr)
7g.138733070A>TCA369379460ATP6V0A4c.1715T>A (p.Ile572Asn)
c.941T>A (p.Ile314Asn)
c.608T>A (p.Ile203Asn)
7g.138733071T>ACA369379461ATP6V0A4c.1714A>T (p.Ile572Phe)
c.940A>T (p.Ile314Phe)
c.607A>T (p.Ile203Phe)
7g.138733071T>CCA369379462ATP6V0A4c.1714A>G (p.Ile572Val)
c.940A>G (p.Ile314Val)
c.607A>G (p.Ile203Val)
7g.138733071T>GCA369379463ATP6V0A4c.1714A>C (p.Ile572Leu)
c.940A>C (p.Ile314Leu)
c.607A>C (p.Ile203Leu)
7g.138733072G>ACA458150309ATP6V0A4c.1713C>T (p.Asn571=)
c.939C>T (p.Asn313=)
c.606C>T (p.Asn202=)
 gnomAD v4
7g.138733072G>CCA369379464ATP6V0A4c.1713C>G (p.Asn571Lys)
c.939C>G (p.Asn313Lys)
c.606C>G (p.Asn202Lys)
7g.138733072G>TCA369379465ATP6V0A4c.1713C>A (p.Asn571Lys)
c.939C>A (p.Asn313Lys)
c.606C>A (p.Asn202Lys)
7g.138733073T>ACA369379466ATP6V0A4c.1712A>T (p.Asn571Ile)
c.938A>T (p.Asn313Ile)
c.605A>T (p.Asn202Ile)
 gnomAD v4
7g.138733073T>CCA369379467ATP6V0A4c.1712A>G (p.Asn571Ser)
c.938A>G (p.Asn313Ser)
c.605A>G (p.Asn202Ser)
 dbSNP gnomAD v4
7g.138733073T>GCA369379468ATP6V0A4c.1712A>C (p.Asn571Thr)
c.938A>C (p.Asn313Thr)
c.605A>C (p.Asn202Thr)
7g.138733073T=CA1746776893ATP6V0A4c.1712A= (p.Asn571=)
c.938A= (p.Asn313=)
c.605A= (p.Asn202=)
7g.138733074T>ACA369379470ATP6V0A4c.1711A>T (p.Asn571Tyr)
c.937A>T (p.Asn313Tyr)
c.604A>T (p.Asn202Tyr)
7g.138733074T>CCA167133199ATP6V0A4c.1711A>G (p.Asn571Asp)
c.937A>G (p.Asn313Asp)
c.604A>G (p.Asn202Asp)
 dbSNP
7g.138733074T>GCA369379469ATP6V0A4c.1711A>C (p.Asn571His)
c.937A>C (p.Asn313His)
c.604A>C (p.Asn202His)
7g.138733074T=CA1746776894ATP6V0A4c.1711A= (p.Asn571=)
c.937A= (p.Asn313=)
c.604A= (p.Asn202=)
7g.138733075G>ACA458150312ATP6V0A4c.1710C>T (p.Leu570=)
c.936C>T (p.Leu312=)
c.603C>T (p.Leu201=)
 dbSNP
7g.138733075G>CCA458150313ATP6V0A4c.1710C>G (p.Leu570=)
c.936C>G (p.Leu312=)
c.603C>G (p.Leu201=)
7g.138733075G>TCA458150314ATP6V0A4c.1710C>A (p.Leu570=)
c.936C>A (p.Leu312=)
c.603C>A (p.Leu201=)
7g.138733076A>CCA369379471ATP6V0A4c.1709T>G (p.Leu570Arg)
c.935T>G (p.Leu312Arg)
c.602T>G (p.Leu201Arg)
7g.138733076A>GCA369379472ATP6V0A4c.1709T>C (p.Leu570Pro)
c.935T>C (p.Leu312Pro)
c.602T>C (p.Leu201Pro)
7g.138733076A>TCA369379473ATP6V0A4c.1709T>A (p.Leu570His)
c.935T>A (p.Leu312His)
c.602T>A (p.Leu201His)
7g.138733077G>ACA167133204ATP6V0A4c.1708C>T (p.Leu570Phe)
c.934C>T (p.Leu312Phe)
c.601C>T (p.Leu201Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.138733077G>CCA369379474ATP6V0A4c.1708C>G (p.Leu570Val)
c.934C>G (p.Leu312Val)
c.601C>G (p.Leu201Val)
7g.138733077G=CA1746776895ATP6V0A4c.1708C= (p.Leu570=)
c.934C= (p.Leu312=)
c.601C= (p.Leu201=)
7g.138733077G>TCA369379475ATP6V0A4c.1708C>A (p.Leu570Ile)
c.934C>A (p.Leu312Ile)
c.601C>A (p.Leu201Ile)
7g.138733078A=CA1746776896ATP6V0A4c.1707T= (p.Thr569=)
c.933T= (p.Thr311=)
c.600T= (p.Thr200=)
7g.138733078A>CCA458150320ATP6V0A4c.1707T>G (p.Thr569=)
c.933T>G (p.Thr311=)
c.600T>G (p.Thr200=)
7g.138733078A>GCA458150318ATP6V0A4c.1707T>C (p.Thr569=)
c.933T>C (p.Thr311=)
c.600T>C (p.Thr200=)
7g.138733078A>TCA458150316ATP6V0A4c.1707T>A (p.Thr569=)
c.933T>A (p.Thr311=)
c.600T>A (p.Thr200=)
 dbSNP
7g.138733079G>ACA369379476ATP6V0A4c.1706C>T (p.Thr569Ile)
c.932C>T (p.Thr311Ile)
c.599C>T (p.Thr200Ile)
7g.138733079G>CCA369379477ATP6V0A4c.1706C>G (p.Thr569Ser)
c.932C>G (p.Thr311Ser)
c.599C>G (p.Thr200Ser)
7g.138733079G>TCA369379478ATP6V0A4c.1706C>A (p.Thr569Asn)
c.932C>A (p.Thr311Asn)
c.599C>A (p.Thr200Asn)
7g.138733080T>ACA369379479ATP6V0A4c.1705A>T (p.Thr569Ser)
c.931A>T (p.Thr311Ser)
c.598A>T (p.Thr200Ser)
7g.138733080T>CCA369379480ATP6V0A4c.1705A>G (p.Thr569Ala)
c.931A>G (p.Thr311Ala)
c.598A>G (p.Thr200Ala)
7g.138733080T>GCA369379481ATP6V0A4c.1705A>C (p.Thr569Pro)
c.931A>C (p.Thr311Pro)
c.598A>C (p.Thr200Pro)
7g.138733081T>ACA369379483ATP6V0A4c.1704A>T (p.Arg568Ser)
c.930A>T (p.Arg310Ser)
c.597A>T (p.Arg199Ser)
 gnomAD v4
7g.138733081T>CCA458150325ATP6V0A4c.1704A>G (p.Arg568=)
c.930A>G (p.Arg310=)
c.597A>G (p.Arg199=)
 dbSNP gnomAD v2 gnomAD v4
7g.138733081T>GCA369379482ATP6V0A4c.1704A>C (p.Arg568Ser)
c.930A>C (p.Arg310Ser)
c.597A>C (p.Arg199Ser)
7g.138733081T=CA1746776898ATP6V0A4c.1704A= (p.Arg568=)
c.930A= (p.Arg310=)
c.597A= (p.Arg199=)
7g.138733081_138733082delinsTCCA1746776897ATP6V0A4c.1703_1704delinsGA (p.Arg568=)
c.929_930delinsGA (p.Arg310=)
c.596_597delinsGA (p.Arg199=)
7g.138733082delCA834053306ATP6V0A4c.1703del (p.Arg568LysfsTer13)
c.929del (p.Arg310LysfsTer13)
c.596del (p.Arg199LysfsTer13)
 dbSNP gnomAD v3 gnomAD v4
7g.138733082C>ACA4504666ATP6V0A4c.1703G>T (p.Arg568Ile)
c.929G>T (p.Arg310Ile)
c.596G>T (p.Arg199Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733082C=CA1746776899ATP6V0A4c.1703G= (p.Arg568=)
c.929G= (p.Arg310=)
c.596G= (p.Arg199=)
7g.138733082C>GCA4504665ATP6V0A4c.1703G>C (p.Arg568Thr)
c.929G>C (p.Arg310Thr)
c.596G>C (p.Arg199Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733082C>TCA369379484ATP6V0A4c.1703G>A (p.Arg568Lys)
c.929G>A (p.Arg310Lys)
c.596G>A (p.Arg199Lys)
 dbSNP gnomAD v3 gnomAD v4
7g.138733083T>ACA369379485ATP6V0A4c.1702A>T (p.Arg568Ter)
c.928A>T (p.Arg310Ter)
c.595A>T (p.Arg199Ter)
7g.138733083T>CCA167133209ATP6V0A4c.1702A>G (p.Arg568Gly)
c.928A>G (p.Arg310Gly)
c.595A>G (p.Arg199Gly)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.138733083T>GCA458150329ATP6V0A4c.1702A>C (p.Arg568=)
c.928A>C (p.Arg310=)
c.595A>C (p.Arg199=)
7g.138733083T=CA1746776900ATP6V0A4c.1702A= (p.Arg568=)
c.928A= (p.Arg310=)
c.595A= (p.Arg199=)
7g.138733084T>ACA369379486ATP6V0A4c.1701A>T (p.Arg567Ser)
c.927A>T (p.Arg309Ser)
c.594A>T (p.Arg198Ser)
7g.138733084T>CCA458150330ATP6V0A4c.1701A>G (p.Arg567=)
c.927A>G (p.Arg309=)
c.594A>G (p.Arg198=)
7g.138733084T>GCA369379487ATP6V0A4c.1701A>C (p.Arg567Ser)
c.927A>C (p.Arg309Ser)
c.594A>C (p.Arg198Ser)
7g.138733085C>ACA369379490ATP6V0A4c.1700G>T (p.Arg567Ile)
c.926G>T (p.Arg309Ile)
c.593G>T (p.Arg198Ile)
7g.138733085C>GCA369379488ATP6V0A4c.1700G>C (p.Arg567Thr)
c.926G>C (p.Arg309Thr)
c.593G>C (p.Arg198Thr)
7g.138733085C>TCA369379489ATP6V0A4c.1700G>A (p.Arg567Lys)
c.926G>A (p.Arg309Lys)
c.593G>A (p.Arg198Lys)
 COSMIC
7g.138733086T>ACA369379491ATP6V0A4c.1699A>T (p.Arg567Ter)
c.925A>T (p.Arg309Ter)
c.592A>T (p.Arg198Ter)
7g.138733086T>CCA369379492ATP6V0A4c.1699A>G (p.Arg567Gly)
c.925A>G (p.Arg309Gly)
c.592A>G (p.Arg198Gly)
 gnomAD v4
7g.138733086T>GCA458150332ATP6V0A4c.1699A>C (p.Arg567=)
c.925A>C (p.Arg309=)
c.592A>C (p.Arg198=)
 dbSNP
7g.138733086T=CA1746776901ATP6V0A4c.1699A= (p.Arg567=)
c.925A= (p.Arg309=)
c.592A= (p.Arg198=)
7g.138733087G>ACA167133215ATP6V0A4c.1698C>T (p.Phe566=)
c.924C>T (p.Phe308=)
c.591C>T (p.Phe197=)
 dbSNP COSMIC
7g.138733087G>CCA369379493ATP6V0A4c.1698C>G (p.Phe566Leu)
c.924C>G (p.Phe308Leu)
c.591C>G (p.Phe197Leu)
7g.138733087G=CA1746776902ATP6V0A4c.1698C= (p.Phe566=)
c.924C= (p.Phe308=)
c.591C= (p.Phe197=)
7g.138733087G>TCA369379494ATP6V0A4c.1698C>A (p.Phe566Leu)
c.924C>A (p.Phe308Leu)
c.591C>A (p.Phe197Leu)
7g.138733088A=CA1746776903ATP6V0A4c.1697T= (p.Phe566=)
c.923T= (p.Phe308=)
c.590T= (p.Phe197=)
7g.138733088A>CCA369379495ATP6V0A4c.1697T>G (p.Phe566Cys)
c.923T>G (p.Phe308Cys)
c.590T>G (p.Phe197Cys)
 gnomAD v4
7g.138733088A>GCA167133216ATP6V0A4c.1697T>C (p.Phe566Ser)
c.923T>C (p.Phe308Ser)
c.590T>C (p.Phe197Ser)
 dbSNP gnomAD v4
7g.138733088A>TCA369379496ATP6V0A4c.1697T>A (p.Phe566Tyr)
c.923T>A (p.Phe308Tyr)
c.590T>A (p.Phe197Tyr)
7g.138733089A>CCA369379497ATP6V0A4c.1696T>G (p.Phe566Val)
c.922T>G (p.Phe308Val)
c.589T>G (p.Phe197Val)
7g.138733089A>GCA369379498ATP6V0A4c.1696T>C (p.Phe566Leu)
c.922T>C (p.Phe308Leu)
c.589T>C (p.Phe197Leu)
7g.138733089A>TCA369379499ATP6V0A4c.1696T>A (p.Phe566Ile)
c.922T>A (p.Phe308Ile)
c.589T>A (p.Phe197Ile)
7g.138733090G>ACA458150337ATP6V0A4c.1695C>T (p.Tyr565=)
c.921C>T (p.Tyr307=)
c.588C>T (p.Tyr196=)
7g.138733090G>CCA369379500ATP6V0A4c.1695C>G (p.Tyr565Ter)
c.921C>G (p.Tyr307Ter)
c.588C>G (p.Tyr196Ter)
7g.138733090G>TCA369379501ATP6V0A4c.1695C>A (p.Tyr565Ter)
c.921C>A (p.Tyr307Ter)
c.588C>A (p.Tyr196Ter)
7g.138733091T>ACA369379502ATP6V0A4c.1694A>T (p.Tyr565Phe)
c.920A>T (p.Tyr307Phe)
c.587A>T (p.Tyr196Phe)
7g.138733091T>CCA369379503ATP6V0A4c.1694A>G (p.Tyr565Cys)
c.920A>G (p.Tyr307Cys)
c.587A>G (p.Tyr196Cys)
7g.138733091T>GCA369379504ATP6V0A4c.1694A>C (p.Tyr565Ser)
c.920A>C (p.Tyr307Ser)
c.587A>C (p.Tyr196Ser)
7g.138733092A>CCA369379505ATP6V0A4c.1693T>G (p.Tyr565Asp)
c.919T>G (p.Tyr307Asp)
c.586T>G (p.Tyr196Asp)
7g.138733092A>GCA369379506ATP6V0A4c.1693T>C (p.Tyr565His)
c.919T>C (p.Tyr307His)
c.586T>C (p.Tyr196His)
7g.138733092A>TCA369379507ATP6V0A4c.1693T>A (p.Tyr565Asn)
c.919T>A (p.Tyr307Asn)
c.586T>A (p.Tyr196Asn)
7g.138733093T>ACA458150344ATP6V0A4c.1692A>T (p.Ile564=)
c.918A>T (p.Ile306=)
c.585A>T (p.Ile195=)
 gnomAD v4
7g.138733093T>CCA369379508ATP6V0A4c.1692A>G (p.Ile564Met)
c.918A>G (p.Ile306Met)
c.585A>G (p.Ile195Met)
7g.138733093T>GCA458150342ATP6V0A4c.1692A>C (p.Ile564=)
c.918A>C (p.Ile306=)
c.585A>C (p.Ile195=)
7g.138733094C>ACA369379509ATP6V0A4c.1692-1G>T (n.1692-1G>T)
c.918-1G>T (n.918-1G>T)
c.585-1G>T (n.585-1G>T)
7g.138733094C=CA1746776904ATP6V0A4c.1692-1G= (n.1692-1G=)
c.918-1G= (n.918-1G=)
c.585-1G= (n.585-1G=)
7g.138733094C>GCA369379511ATP6V0A4c.1692-1G>C (n.1692-1G>C)
c.918-1G>C (n.918-1G>C)
c.585-1G>C (n.585-1G>C)
7g.138733094C>TCA369379510ATP6V0A4c.1692-1G>A (n.1692-1G>A)
c.918-1G>A (n.918-1G>A)
c.585-1G>A (n.585-1G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.138733095T>ACA369379512ATP6V0A4c.1692-2A>T (n.1692-2A>T)
c.918-2A>T (n.918-2A>T)
c.585-2A>T (n.585-2A>T)
7g.138733095T>CCA369379513ATP6V0A4c.1692-2A>G (n.1692-2A>G)
c.918-2A>G (n.918-2A>G)
c.585-2A>G (n.585-2A>G)
7g.138733095T>GCA369379514ATP6V0A4c.1692-2A>C (n.1692-2A>C)
c.918-2A>C (n.918-2A>C)
c.585-2A>C (n.585-2A>C)
7g.138733096G>ACA4504667ATP6V0A4c.1692-3C>T (n.1692-3C>T)
c.918-3C>T (n.918-3C>T)
c.585-3C>T (n.585-3C>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.138733096G=CA1746776905ATP6V0A4c.1692-3C= (n.1692-3C=)
c.918-3C= (n.918-3C=)
c.585-3C= (n.585-3C=)
7g.138733097G>ACA2579035693ATP6V0A4c.1692-4C>T (n.1692-4C>T)
c.918-4C>T (n.918-4C>T)
c.585-4C>T (n.585-4C>T)
7g.138733098G>ACA1746776907ATP6V0A4c.1692-5C>T (n.1692-5C>T)
c.918-5C>T (n.918-5C>T)
c.585-5C>T (n.585-5C>T)
 dbSNP gnomAD v4
7g.138733098G=CA1746776906ATP6V0A4c.1692-5C= (n.1692-5C=)
c.918-5C= (n.918-5C=)
c.585-5C= (n.585-5C=)
7g.138733098G>TCA2579035694ATP6V0A4c.1692-5C>A (n.1692-5C>A)
c.918-5C>A (n.918-5C>A)
c.585-5C>A (n.585-5C>A)
7g.138733099G>ACA2778102840ATP6V0A4c.1692-6C>T (n.1692-6C>T)
c.918-6C>T (n.918-6C>T)
c.585-6C>T (n.585-6C>T)
7g.138733099G>TCA2778102841ATP6V0A4c.1692-6C>A (n.1692-6C>A)
c.918-6C>A (n.918-6C>A)
c.585-6C>A (n.585-6C>A)
7g.138733100G=CA1746776908ATP6V0A4c.1692-7C= (n.1692-7C=)
c.918-7C= (n.918-7C=)
c.585-7C= (n.585-7C=)
7g.138733100G>TCA578621962ATP6V0A4c.1692-7C>A (n.1692-7C>A)
c.918-7C>A (n.918-7C>A)
c.585-7C>A (n.585-7C>A)
 dbSNP gnomAD v2 gnomAD v4
7g.138733102G>ACA4504668ATP6V0A4c.1692-9C>T (n.1692-9C>T)
c.918-9C>T (n.918-9C>T)
c.585-9C>T (n.585-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733102G=CA1746776909ATP6V0A4c.1692-9C= (n.1692-9C=)
c.918-9C= (n.918-9C=)
c.585-9C= (n.585-9C=)
7g.138733104A>CCA2685127696ATP6V0A4c.1692-11T>G (n.1692-11T>G)
c.918-11T>G (n.918-11T>G)
c.585-11T>G (n.585-11T>G)
 gnomAD v4
7g.138733106G>TCA2685127697ATP6V0A4c.1692-13C>A (n.1692-13C>A)
c.918-13C>A (n.918-13C>A)
c.585-13C>A (n.585-13C>A)
 gnomAD v4
7g.138733107A=CA1746776910ATP6V0A4c.1692-14T= (n.1692-14T=)
c.918-14T= (n.918-14T=)
c.585-14T= (n.585-14T=)
7g.138733107A>GCA578621963ATP6V0A4c.1692-14T>C (n.1692-14T>C)
c.918-14T>C (n.918-14T>C)
c.585-14T>C (n.585-14T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.138733108C=CA1746776911ATP6V0A4c.1692-15G= (n.1692-15G=)
c.918-15G= (n.918-15G=)
c.585-15G= (n.585-15G=)
7g.138733108C>GCA4504669ATP6V0A4c.1692-15G>C (n.1692-15G>C)
c.918-15G>C (n.918-15G>C)
c.585-15G>C (n.585-15G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.138733112C=CA1746776912ATP6V0A4c.1692-19G= (n.1692-19G=)
c.918-19G= (n.918-19G=)
c.585-19G= (n.585-19G=)
7g.138733112C>GCA2579035695ATP6V0A4c.1692-19G>C (n.1692-19G>C)
c.918-19G>C (n.918-19G>C)
c.585-19G>C (n.585-19G>C)
7g.138733112C>TCA1746776913ATP6V0A4c.1692-19G>A (n.1692-19G>A)
c.918-19G>A (n.918-19G>A)
c.585-19G>A (n.585-19G>A)
 dbSNP gnomAD v4

Number of alleles fetched