Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.195787068T>ACA349933757DNAH7c.10820A>T (p.Asn3607Ile)
c.269A>T (p.Asn90Ile)
c.10700A>T (p.Asn3567Ile)
c.10682A>T (p.Asn3561Ile)
c.10595A>T (p.Asn3532Ile)
c.6464A>T (p.Asn2155Ile)
c.5192A>T (p.Asn1731Ile)
c.10547A>T (p.Asn3516Ile)
2g.195787068T>CCA2033941DNAH7c.10820A>G (p.Asn3607Ser)
c.269A>G (p.Asn90Ser)
c.10700A>G (p.Asn3567Ser)
c.10682A>G (p.Asn3561Ser)
c.10595A>G (p.Asn3532Ser)
c.6464A>G (p.Asn2155Ser)
c.5192A>G (p.Asn1731Ser)
c.10547A>G (p.Asn3516Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787068T>GCA349933758DNAH7c.10820A>C (p.Asn3607Thr)
c.269A>C (p.Asn90Thr)
c.10700A>C (p.Asn3567Thr)
c.10682A>C (p.Asn3561Thr)
c.10595A>C (p.Asn3532Thr)
c.6464A>C (p.Asn2155Thr)
c.5192A>C (p.Asn1731Thr)
c.10547A>C (p.Asn3516Thr)
dbSNP gnomAD v2 gnomAD v4
2g.195787068T=CA1318501843DNAH7c.10820A= (p.Asn3607=)
c.269A= (p.Asn90=)
c.10700A= (p.Asn3567=)
c.10682A= (p.Asn3561=)
c.10595A= (p.Asn3532=)
c.6464A= (p.Asn2155=)
c.5192A= (p.Asn1731=)
c.10547A= (p.Asn3516=)
2g.195787069T>ACA349933760DNAH7c.10819A>T (p.Asn3607Tyr)
c.268A>T (p.Asn90Tyr)
c.10699A>T (p.Asn3567Tyr)
c.10681A>T (p.Asn3561Tyr)
c.10594A>T (p.Asn3532Tyr)
c.6463A>T (p.Asn2155Tyr)
c.5191A>T (p.Asn1731Tyr)
c.10546A>T (p.Asn3516Tyr)
2g.195787069T>CCA2033942DNAH7c.10819A>G (p.Asn3607Asp)
c.268A>G (p.Asn90Asp)
c.10699A>G (p.Asn3567Asp)
c.10681A>G (p.Asn3561Asp)
c.10594A>G (p.Asn3532Asp)
c.6463A>G (p.Asn2155Asp)
c.5191A>G (p.Asn1731Asp)
c.10546A>G (p.Asn3516Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787069T>GCA349933759DNAH7c.10819A>C (p.Asn3607His)
c.268A>C (p.Asn90His)
c.10699A>C (p.Asn3567His)
c.10681A>C (p.Asn3561His)
c.10594A>C (p.Asn3532His)
c.6463A>C (p.Asn2155His)
c.5191A>C (p.Asn1731His)
c.10546A>C (p.Asn3516His)
2g.195787069T=CA1318501849DNAH7c.10819A= (p.Asn3607=)
c.268A= (p.Asn90=)
c.10699A= (p.Asn3567=)
c.10681A= (p.Asn3561=)
c.10594A= (p.Asn3532=)
c.6463A= (p.Asn2155=)
c.5191A= (p.Asn1731=)
c.10546A= (p.Asn3516=)
2g.195787070G>ACA430536846DNAH7c.10818C>T (p.Phe3606=)
c.267C>T (p.Phe89=)
c.10698C>T (p.Phe3566=)
c.10680C>T (p.Phe3560=)
c.10593C>T (p.Phe3531=)
c.6462C>T (p.Phe2154=)
c.5190C>T (p.Phe1730=)
c.10545C>T (p.Phe3515=)
2g.195787070G>CCA349933762DNAH7c.10818C>G (p.Phe3606Leu)
c.267C>G (p.Phe89Leu)
c.10698C>G (p.Phe3566Leu)
c.10680C>G (p.Phe3560Leu)
c.10593C>G (p.Phe3531Leu)
c.6462C>G (p.Phe2154Leu)
c.5190C>G (p.Phe1730Leu)
c.10545C>G (p.Phe3515Leu)
2g.195787070G>TCA349933761DNAH7c.10818C>A (p.Phe3606Leu)
c.267C>A (p.Phe89Leu)
c.10698C>A (p.Phe3566Leu)
c.10680C>A (p.Phe3560Leu)
c.10593C>A (p.Phe3531Leu)
c.6462C>A (p.Phe2154Leu)
c.5190C>A (p.Phe1730Leu)
c.10545C>A (p.Phe3515Leu)
2g.195787071A=CA1318501857DNAH7c.10817T= (p.Phe3606=)
c.266T= (p.Phe89=)
c.10697T= (p.Phe3566=)
c.10679T= (p.Phe3560=)
c.10592T= (p.Phe3531=)
c.6461T= (p.Phe2154=)
c.5189T= (p.Phe1730=)
c.10544T= (p.Phe3515=)
2g.195787071A>CCA349933763DNAH7c.10817T>G (p.Phe3606Cys)
c.266T>G (p.Phe89Cys)
c.10697T>G (p.Phe3566Cys)
c.10679T>G (p.Phe3560Cys)
c.10592T>G (p.Phe3531Cys)
c.6461T>G (p.Phe2154Cys)
c.5189T>G (p.Phe1730Cys)
c.10544T>G (p.Phe3515Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787071A>GCA349933764DNAH7c.10817T>C (p.Phe3606Ser)
c.266T>C (p.Phe89Ser)
c.10697T>C (p.Phe3566Ser)
c.10679T>C (p.Phe3560Ser)
c.10592T>C (p.Phe3531Ser)
c.6461T>C (p.Phe2154Ser)
c.5189T>C (p.Phe1730Ser)
c.10544T>C (p.Phe3515Ser)
2g.195787071A>TCA349933765DNAH7c.10817T>A (p.Phe3606Tyr)
c.266T>A (p.Phe89Tyr)
c.10697T>A (p.Phe3566Tyr)
c.10679T>A (p.Phe3560Tyr)
c.10592T>A (p.Phe3531Tyr)
c.6461T>A (p.Phe2154Tyr)
c.5189T>A (p.Phe1730Tyr)
c.10544T>A (p.Phe3515Tyr)
2g.195787072A=CA1318501861DNAH7c.10816T= (p.Phe3606=)
c.265T= (p.Phe89=)
c.10696T= (p.Phe3566=)
c.10678T= (p.Phe3560=)
c.10591T= (p.Phe3531=)
c.6460T= (p.Phe2154=)
c.5188T= (p.Phe1730=)
c.10543T= (p.Phe3515=)
2g.195787072A>CCA349933766DNAH7c.10816T>G (p.Phe3606Val)
c.265T>G (p.Phe89Val)
c.10696T>G (p.Phe3566Val)
c.10678T>G (p.Phe3560Val)
c.10591T>G (p.Phe3531Val)
c.6460T>G (p.Phe2154Val)
c.5188T>G (p.Phe1730Val)
c.10543T>G (p.Phe3515Val)
2g.195787072A>GCA349933767DNAH7c.10816T>C (p.Phe3606Leu)
c.265T>C (p.Phe89Leu)
c.10696T>C (p.Phe3566Leu)
c.10678T>C (p.Phe3560Leu)
c.10591T>C (p.Phe3531Leu)
c.6460T>C (p.Phe2154Leu)
c.5188T>C (p.Phe1730Leu)
c.10543T>C (p.Phe3515Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787072A>TCA349933768DNAH7c.10816T>A (p.Phe3606Ile)
c.265T>A (p.Phe89Ile)
c.10696T>A (p.Phe3566Ile)
c.10678T>A (p.Phe3560Ile)
c.10591T>A (p.Phe3531Ile)
c.6460T>A (p.Phe2154Ile)
c.5188T>A (p.Phe1730Ile)
c.10543T>A (p.Phe3515Ile)
2g.195787073C>ACA349933769DNAH7c.10815G>T (p.Glu3605Asp)
c.264G>T (p.Glu88Asp)
c.10695G>T (p.Glu3565Asp)
c.10677G>T (p.Glu3559Asp)
c.10590G>T (p.Glu3530Asp)
c.6459G>T (p.Glu2153Asp)
c.5187G>T (p.Glu1729Asp)
c.10542G>T (p.Glu3514Asp)
2g.195787073C=CA1318501870DNAH7c.10815G= (p.Glu3605=)
c.264G= (p.Glu88=)
c.10695G= (p.Glu3565=)
c.10677G= (p.Glu3559=)
c.10590G= (p.Glu3530=)
c.6459G= (p.Glu2153=)
c.5187G= (p.Glu1729=)
c.10542G= (p.Glu3514=)
2g.195787073C>GCA62726805DNAH7c.10815G>C (p.Glu3605Asp)
c.264G>C (p.Glu88Asp)
c.10695G>C (p.Glu3565Asp)
c.10677G>C (p.Glu3559Asp)
c.10590G>C (p.Glu3530Asp)
c.6459G>C (p.Glu2153Asp)
c.5187G>C (p.Glu1729Asp)
c.10542G>C (p.Glu3514Asp)
dbSNP
2g.195787073C>TCA2033943DNAH7c.10815G>A (p.Glu3605=)
c.264G>A (p.Glu88=)
c.10695G>A (p.Glu3565=)
c.10677G>A (p.Glu3559=)
c.10590G>A (p.Glu3530=)
c.6459G>A (p.Glu2153=)
c.5187G>A (p.Glu1729=)
c.10542G>A (p.Glu3514=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787073_195787074insCAGCA1318501874DNAH7c.10814_10815insCTG (p.Glu3605delinsAspTrp)
c.263_264insCTG (p.Glu88delinsAspTrp)
c.10694_10695insCTG (p.Glu3565delinsAspTrp)
c.10676_10677insCTG (p.Glu3559delinsAspTrp)
c.10589_10590insCTG (p.Glu3530delinsAspTrp)
c.6458_6459insCTG (p.Glu2153delinsAspTrp)
c.5186_5187insCTG (p.Glu1729delinsAspTrp)
c.10541_10542insCTG (p.Glu3514delinsAspTrp)
dbSNP
2g.195787074T>ACA349933770DNAH7c.10814A>T (p.Glu3605Val)
c.263A>T (p.Glu88Val)
c.10694A>T (p.Glu3565Val)
c.10676A>T (p.Glu3559Val)
c.10589A>T (p.Glu3530Val)
c.6458A>T (p.Glu2153Val)
c.5186A>T (p.Glu1729Val)
c.10541A>T (p.Glu3514Val)
2g.195787074T>CCA349933771DNAH7c.10814A>G (p.Glu3605Gly)
c.263A>G (p.Glu88Gly)
c.10694A>G (p.Glu3565Gly)
c.10676A>G (p.Glu3559Gly)
c.10589A>G (p.Glu3530Gly)
c.6458A>G (p.Glu2153Gly)
c.5186A>G (p.Glu1729Gly)
c.10541A>G (p.Glu3514Gly)
2g.195787074T>GCA349933772DNAH7c.10814A>C (p.Glu3605Ala)
c.263A>C (p.Glu88Ala)
c.10694A>C (p.Glu3565Ala)
c.10676A>C (p.Glu3559Ala)
c.10589A>C (p.Glu3530Ala)
c.6458A>C (p.Glu2153Ala)
c.5186A>C (p.Glu1729Ala)
c.10541A>C (p.Glu3514Ala)
2g.195787075C>ACA349933775DNAH7c.10813G>T (p.Glu3605Ter)
c.262G>T (p.Glu88Ter)
c.10693G>T (p.Glu3565Ter)
c.10675G>T (p.Glu3559Ter)
c.10588G>T (p.Glu3530Ter)
c.6457G>T (p.Glu2153Ter)
c.5185G>T (p.Glu1729Ter)
c.10540G>T (p.Glu3514Ter)
dbSNP
2g.195787075C=CA1318501876DNAH7c.10813G= (p.Glu3605=)
c.262G= (p.Glu88=)
c.10693G= (p.Glu3565=)
c.10675G= (p.Glu3559=)
c.10588G= (p.Glu3530=)
c.6457G= (p.Glu2153=)
c.5185G= (p.Glu1729=)
c.10540G= (p.Glu3514=)
2g.195787075C>GCA349933773DNAH7c.10813G>C (p.Glu3605Gln)
c.262G>C (p.Glu88Gln)
c.10693G>C (p.Glu3565Gln)
c.10675G>C (p.Glu3559Gln)
c.10588G>C (p.Glu3530Gln)
c.6457G>C (p.Glu2153Gln)
c.5185G>C (p.Glu1729Gln)
c.10540G>C (p.Glu3514Gln)
dbSNP gnomAD v2 gnomAD v4
2g.195787075C>TCA349933774DNAH7c.10813G>A (p.Glu3605Lys)
c.262G>A (p.Glu88Lys)
c.10693G>A (p.Glu3565Lys)
c.10675G>A (p.Glu3559Lys)
c.10588G>A (p.Glu3530Lys)
c.6457G>A (p.Glu2153Lys)
c.5185G>A (p.Glu1729Lys)
c.10540G>A (p.Glu3514Lys)
2g.195787076A=CA1318501881DNAH7c.10812T= (p.Tyr3604=)
c.261T= (p.Tyr87=)
c.10692T= (p.Tyr3564=)
c.10674T= (p.Tyr3558=)
c.10587T= (p.Tyr3529=)
c.6456T= (p.Tyr2152=)
c.5184T= (p.Tyr1728=)
c.10539T= (p.Tyr3513=)
2g.195787076A>CCA349933776DNAH7c.10812T>G (p.Tyr3604Ter)
c.261T>G (p.Tyr87Ter)
c.10692T>G (p.Tyr3564Ter)
c.10674T>G (p.Tyr3558Ter)
c.10587T>G (p.Tyr3529Ter)
c.6456T>G (p.Tyr2152Ter)
c.5184T>G (p.Tyr1728Ter)
c.10539T>G (p.Tyr3513Ter)
dbSNP gnomAD v3 gnomAD v4
2g.195787076A>GCA430536872DNAH7c.10812T>C (p.Tyr3604=)
c.261T>C (p.Tyr87=)
c.10692T>C (p.Tyr3564=)
c.10674T>C (p.Tyr3558=)
c.10587T>C (p.Tyr3529=)
c.6456T>C (p.Tyr2152=)
c.5184T>C (p.Tyr1728=)
c.10539T>C (p.Tyr3513=)
2g.195787076A>TCA349933777DNAH7c.10812T>A (p.Tyr3604Ter)
c.261T>A (p.Tyr87Ter)
c.10692T>A (p.Tyr3564Ter)
c.10674T>A (p.Tyr3558Ter)
c.10587T>A (p.Tyr3529Ter)
c.6456T>A (p.Tyr2152Ter)
c.5184T>A (p.Tyr1728Ter)
c.10539T>A (p.Tyr3513Ter)
2g.195787077T>ACA349933778DNAH7c.10811A>T (p.Tyr3604Phe)
c.260A>T (p.Tyr87Phe)
c.10691A>T (p.Tyr3564Phe)
c.10673A>T (p.Tyr3558Phe)
c.10586A>T (p.Tyr3529Phe)
c.6455A>T (p.Tyr2152Phe)
c.5183A>T (p.Tyr1728Phe)
c.10538A>T (p.Tyr3513Phe)
2g.195787077T>CCA62726816DNAH7c.10811A>G (p.Tyr3604Cys)
c.260A>G (p.Tyr87Cys)
c.10691A>G (p.Tyr3564Cys)
c.10673A>G (p.Tyr3558Cys)
c.10586A>G (p.Tyr3529Cys)
c.6455A>G (p.Tyr2152Cys)
c.5183A>G (p.Tyr1728Cys)
c.10538A>G (p.Tyr3513Cys)
dbSNP gnomAD v4
2g.195787077T>GCA349933779DNAH7c.10811A>C (p.Tyr3604Ser)
c.260A>C (p.Tyr87Ser)
c.10691A>C (p.Tyr3564Ser)
c.10673A>C (p.Tyr3558Ser)
c.10586A>C (p.Tyr3529Ser)
c.6455A>C (p.Tyr2152Ser)
c.5183A>C (p.Tyr1728Ser)
c.10538A>C (p.Tyr3513Ser)
2g.195787077T=CA1318501886DNAH7c.10811A= (p.Tyr3604=)
c.260A= (p.Tyr87=)
c.10691A= (p.Tyr3564=)
c.10673A= (p.Tyr3558=)
c.10586A= (p.Tyr3529=)
c.6455A= (p.Tyr2152=)
c.5183A= (p.Tyr1728=)
c.10538A= (p.Tyr3513=)
2g.195787078A=CA1318501898DNAH7c.10810T= (p.Tyr3604=)
c.259T= (p.Tyr87=)
c.10690T= (p.Tyr3564=)
c.10672T= (p.Tyr3558=)
c.10585T= (p.Tyr3529=)
c.6454T= (p.Tyr2152=)
c.5182T= (p.Tyr1728=)
c.10537T= (p.Tyr3513=)
2g.195787078A>CCA349933780DNAH7c.10810T>G (p.Tyr3604Asp)
c.259T>G (p.Tyr87Asp)
c.10690T>G (p.Tyr3564Asp)
c.10672T>G (p.Tyr3558Asp)
c.10585T>G (p.Tyr3529Asp)
c.6454T>G (p.Tyr2152Asp)
c.5182T>G (p.Tyr1728Asp)
c.10537T>G (p.Tyr3513Asp)
2g.195787078A>GCA349933781DNAH7c.10810T>C (p.Tyr3604His)
c.259T>C (p.Tyr87His)
c.10690T>C (p.Tyr3564His)
c.10672T>C (p.Tyr3558His)
c.10585T>C (p.Tyr3529His)
c.6454T>C (p.Tyr2152His)
c.5182T>C (p.Tyr1728His)
c.10537T>C (p.Tyr3513His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787078A>TCA349933782DNAH7c.10810T>A (p.Tyr3604Asn)
c.259T>A (p.Tyr87Asn)
c.10690T>A (p.Tyr3564Asn)
c.10672T>A (p.Tyr3558Asn)
c.10585T>A (p.Tyr3529Asn)
c.6454T>A (p.Tyr2152Asn)
c.5182T>A (p.Tyr1728Asn)
c.10537T>A (p.Tyr3513Asn)
2g.195787078_195787079insTCA1040881722DNAH7c.10809_10810insA (p.Tyr3604IlefsTer2)
c.258_259insA (p.Tyr87IlefsTer2)
c.10689_10690insA (p.Tyr3564IlefsTer2)
c.10671_10672insA (p.Tyr3558IlefsTer2)
c.10584_10585insA (p.Tyr3529IlefsTer2)
c.6453_6454insA (p.Tyr2152IlefsTer2)
c.5181_5182insA (p.Tyr1728IlefsTer2)
c.10536_10537insA (p.Tyr3513IlefsTer2)
dbSNP gnomAD v3 gnomAD v4
2g.195787079A=CA1318501904DNAH7c.10809T= (p.Pro3603=)
c.258T= (p.Pro86=)
c.10689T= (p.Pro3563=)
c.10671T= (p.Pro3557=)
c.10584T= (p.Pro3528=)
c.6453T= (p.Pro2151=)
c.5181T= (p.Pro1727=)
c.10536T= (p.Pro3512=)
2g.195787079A>CCA2033944DNAH7c.10809T>G (p.Pro3603=)
c.258T>G (p.Pro86=)
c.10689T>G (p.Pro3563=)
c.10671T>G (p.Pro3557=)
c.10584T>G (p.Pro3528=)
c.6453T>G (p.Pro2151=)
c.5181T>G (p.Pro1727=)
c.10536T>G (p.Pro3512=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787079A>GCA430536883DNAH7c.10809T>C (p.Pro3603=)
c.258T>C (p.Pro86=)
c.10689T>C (p.Pro3563=)
c.10671T>C (p.Pro3557=)
c.10584T>C (p.Pro3528=)
c.6453T>C (p.Pro2151=)
c.5181T>C (p.Pro1727=)
c.10536T>C (p.Pro3512=)
2g.195787079A>TCA430536885DNAH7c.10809T>A (p.Pro3603=)
c.258T>A (p.Pro86=)
c.10689T>A (p.Pro3563=)
c.10671T>A (p.Pro3557=)
c.10584T>A (p.Pro3528=)
c.6453T>A (p.Pro2151=)
c.5181T>A (p.Pro1727=)
c.10536T>A (p.Pro3512=)
2g.195787079_195787081delinsAGGCA1318501906DNAH7c.10807_10809delinsCCT (p.Pro3603=)
c.256_258delinsCCT (p.Pro86=)
c.10687_10689delinsCCT (p.Pro3563=)
c.10669_10671delinsCCT (p.Pro3557=)
c.10582_10584delinsCCT (p.Pro3528=)
c.6451_6453delinsCCT (p.Pro2151=)
c.5179_5181delinsCCT (p.Pro1727=)
c.10534_10536delinsCCT (p.Pro3512=)
2g.195787080G>ACA349933783DNAH7c.10808C>T (p.Pro3603Leu)
c.257C>T (p.Pro86Leu)
c.10688C>T (p.Pro3563Leu)
c.10670C>T (p.Pro3557Leu)
c.10583C>T (p.Pro3528Leu)
c.6452C>T (p.Pro2151Leu)
c.5180C>T (p.Pro1727Leu)
c.10535C>T (p.Pro3512Leu)
COSMIC
2g.195787080G>CCA349933784DNAH7c.10808C>G (p.Pro3603Arg)
c.257C>G (p.Pro86Arg)
c.10688C>G (p.Pro3563Arg)
c.10670C>G (p.Pro3557Arg)
c.10583C>G (p.Pro3528Arg)
c.6452C>G (p.Pro2151Arg)
c.5180C>G (p.Pro1727Arg)
c.10535C>G (p.Pro3512Arg)
2g.195787080G=CA1318501909DNAH7c.10808C= (p.Pro3603=)
c.257C= (p.Pro86=)
c.10688C= (p.Pro3563=)
c.10670C= (p.Pro3557=)
c.10583C= (p.Pro3528=)
c.6452C= (p.Pro2151=)
c.5180C= (p.Pro1727=)
c.10535C= (p.Pro3512=)
2g.195787080G>TCA349933785DNAH7c.10808C>A (p.Pro3603His)
c.257C>A (p.Pro86His)
c.10688C>A (p.Pro3563His)
c.10670C>A (p.Pro3557His)
c.10583C>A (p.Pro3528His)
c.6452C>A (p.Pro2151His)
c.5180C>A (p.Pro1727His)
c.10535C>A (p.Pro3512His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787080_195787081delCA1040881729DNAH7c.10807_10808del (p.Pro3603LeufsTer2)
c.256_257del (p.Pro86LeufsTer2)
c.10687_10688del (p.Pro3563LeufsTer2)
c.10669_10670del (p.Pro3557LeufsTer2)
c.10582_10583del (p.Pro3528LeufsTer2)
c.6451_6452del (p.Pro2151LeufsTer2)
c.5179_5180del (p.Pro1727LeufsTer2)
c.10534_10535del (p.Pro3512LeufsTer2)
dbSNP gnomAD v3 gnomAD v4
2g.195787081G>ACA349933787DNAH7c.10807C>T (p.Pro3603Ser)
c.256C>T (p.Pro86Ser)
c.10687C>T (p.Pro3563Ser)
c.10669C>T (p.Pro3557Ser)
c.10582C>T (p.Pro3528Ser)
c.6451C>T (p.Pro2151Ser)
c.5179C>T (p.Pro1727Ser)
c.10534C>T (p.Pro3512Ser)
gnomAD v4 COSMIC
2g.195787081G>CCA349933788DNAH7c.10807C>G (p.Pro3603Ala)
c.256C>G (p.Pro86Ala)
c.10687C>G (p.Pro3563Ala)
c.10669C>G (p.Pro3557Ala)
c.10582C>G (p.Pro3528Ala)
c.6451C>G (p.Pro2151Ala)
c.5179C>G (p.Pro1727Ala)
c.10534C>G (p.Pro3512Ala)
2g.195787081G>TCA349933786DNAH7c.10807C>A (p.Pro3603Thr)
c.256C>A (p.Pro86Thr)
c.10687C>A (p.Pro3563Thr)
c.10669C>A (p.Pro3557Thr)
c.10582C>A (p.Pro3528Thr)
c.6451C>A (p.Pro2151Thr)
c.5179C>A (p.Pro1727Thr)
c.10534C>A (p.Pro3512Thr)
2g.195787081_195787082delinsGACA1318501924DNAH7c.10806_10807delinsTC (p.Ile3602=)
c.255_256delinsTC (p.Ile85=)
c.10686_10687delinsTC (p.Ile3562=)
c.10668_10669delinsTC (p.Ile3556=)
c.10581_10582delinsTC (p.Ile3527=)
c.6450_6451delinsTC (p.Ile2150=)
c.5178_5179delinsTC (p.Ile1726=)
c.10533_10534delinsTC (p.Ile3511=)
2g.195787082A=CA1318501936DNAH7c.10806T= (p.Ile3602=)
c.255T= (p.Ile85=)
c.10686T= (p.Ile3562=)
c.10668T= (p.Ile3556=)
c.10581T= (p.Ile3527=)
c.6450T= (p.Ile2150=)
c.5178T= (p.Ile1726=)
c.10533T= (p.Ile3511=)
2g.195787082A>CCA349933789DNAH7c.10806T>G (p.Ile3602Met)
c.255T>G (p.Ile85Met)
c.10686T>G (p.Ile3562Met)
c.10668T>G (p.Ile3556Met)
c.10581T>G (p.Ile3527Met)
c.6450T>G (p.Ile2150Met)
c.5178T>G (p.Ile1726Met)
c.10533T>G (p.Ile3511Met)
2g.195787082A>GCA430536895DNAH7c.10806T>C (p.Ile3602=)
c.255T>C (p.Ile85=)
c.10686T>C (p.Ile3562=)
c.10668T>C (p.Ile3556=)
c.10581T>C (p.Ile3527=)
c.6450T>C (p.Ile2150=)
c.5178T>C (p.Ile1726=)
c.10533T>C (p.Ile3511=)
gnomAD v4
2g.195787082A>TCA430536896DNAH7c.10806T>A (p.Ile3602=)
c.255T>A (p.Ile85=)
c.10686T>A (p.Ile3562=)
c.10668T>A (p.Ile3556=)
c.10581T>A (p.Ile3527=)
c.6450T>A (p.Ile2150=)
c.5178T>A (p.Ile1726=)
c.10533T>A (p.Ile3511=)
dbSNP gnomAD v3 gnomAD v4
2g.195787083delCA1318501938DNAH7c.10806del (p.Pro3603LeufsTer9)
c.255del (p.Pro86LeufsTer9)
c.10686del (p.Pro3563LeufsTer9)
c.10668del (p.Pro3557LeufsTer9)
c.10581del (p.Pro3528LeufsTer9)
c.6450del (p.Pro2151LeufsTer9)
c.5178del (p.Pro1727LeufsTer9)
c.10533del (p.Pro3512LeufsTer9)
dbSNP
2g.195787083A=CA1318501942DNAH7c.10805T= (p.Ile3602=)
c.254T= (p.Ile85=)
c.10685T= (p.Ile3562=)
c.10667T= (p.Ile3556=)
c.10580T= (p.Ile3527=)
c.6449T= (p.Ile2150=)
c.5177T= (p.Ile1726=)
c.10532T= (p.Ile3511=)
2g.195787083A>CCA349933792DNAH7c.10805T>G (p.Ile3602Ser)
c.254T>G (p.Ile85Ser)
c.10685T>G (p.Ile3562Ser)
c.10667T>G (p.Ile3556Ser)
c.10580T>G (p.Ile3527Ser)
c.6449T>G (p.Ile2150Ser)
c.5177T>G (p.Ile1726Ser)
c.10532T>G (p.Ile3511Ser)
dbSNP gnomAD v3 gnomAD v4
2g.195787083A>GCA349933790DNAH7c.10805T>C (p.Ile3602Thr)
c.254T>C (p.Ile85Thr)
c.10685T>C (p.Ile3562Thr)
c.10667T>C (p.Ile3556Thr)
c.10580T>C (p.Ile3527Thr)
c.6449T>C (p.Ile2150Thr)
c.5177T>C (p.Ile1726Thr)
c.10532T>C (p.Ile3511Thr)
2g.195787083A>TCA349933791DNAH7c.10805T>A (p.Ile3602Asn)
c.254T>A (p.Ile85Asn)
c.10685T>A (p.Ile3562Asn)
c.10667T>A (p.Ile3556Asn)
c.10580T>A (p.Ile3527Asn)
c.6449T>A (p.Ile2150Asn)
c.5177T>A (p.Ile1726Asn)
c.10532T>A (p.Ile3511Asn)
2g.195787084T>ACA349933793DNAH7c.10804A>T (p.Ile3602Phe)
c.253A>T (p.Ile85Phe)
c.10684A>T (p.Ile3562Phe)
c.10666A>T (p.Ile3556Phe)
c.10579A>T (p.Ile3527Phe)
c.6448A>T (p.Ile2150Phe)
c.5176A>T (p.Ile1726Phe)
c.10531A>T (p.Ile3511Phe)
2g.195787084T>CCA349933794DNAH7c.10804A>G (p.Ile3602Val)
c.253A>G (p.Ile85Val)
c.10684A>G (p.Ile3562Val)
c.10666A>G (p.Ile3556Val)
c.10579A>G (p.Ile3527Val)
c.6448A>G (p.Ile2150Val)
c.5176A>G (p.Ile1726Val)
c.10531A>G (p.Ile3511Val)
2g.195787084T>GCA349933795DNAH7c.10804A>C (p.Ile3602Leu)
c.253A>C (p.Ile85Leu)
c.10684A>C (p.Ile3562Leu)
c.10666A>C (p.Ile3556Leu)
c.10579A>C (p.Ile3527Leu)
c.6448A>C (p.Ile2150Leu)
c.5176A>C (p.Ile1726Leu)
c.10531A>C (p.Ile3511Leu)
2g.195787085A>CCA349933796DNAH7c.10803T>G (p.Asn3601Lys)
c.252T>G (p.Asn84Lys)
c.10683T>G (p.Asn3561Lys)
c.10665T>G (p.Asn3555Lys)
c.10578T>G (p.Asn3526Lys)
c.6447T>G (p.Asn2149Lys)
c.5175T>G (p.Asn1725Lys)
c.10530T>G (p.Asn3510Lys)
2g.195787085A>GCA430536906DNAH7c.10803T>C (p.Asn3601=)
c.252T>C (p.Asn84=)
c.10683T>C (p.Asn3561=)
c.10665T>C (p.Asn3555=)
c.10578T>C (p.Asn3526=)
c.6447T>C (p.Asn2149=)
c.5175T>C (p.Asn1725=)
c.10530T>C (p.Asn3510=)
2g.195787085A>TCA349933797DNAH7c.10803T>A (p.Asn3601Lys)
c.252T>A (p.Asn84Lys)
c.10683T>A (p.Asn3561Lys)
c.10665T>A (p.Asn3555Lys)
c.10578T>A (p.Asn3526Lys)
c.6447T>A (p.Asn2149Lys)
c.5175T>A (p.Asn1725Lys)
c.10530T>A (p.Asn3510Lys)
2g.195787086T>ACA349933798DNAH7c.10802A>T (p.Asn3601Ile)
c.251A>T (p.Asn84Ile)
c.10682A>T (p.Asn3561Ile)
c.10664A>T (p.Asn3555Ile)
c.10577A>T (p.Asn3526Ile)
c.6446A>T (p.Asn2149Ile)
c.5174A>T (p.Asn1725Ile)
c.10529A>T (p.Asn3510Ile)
2g.195787086T>CCA349933799DNAH7c.10802A>G (p.Asn3601Ser)
c.251A>G (p.Asn84Ser)
c.10682A>G (p.Asn3561Ser)
c.10664A>G (p.Asn3555Ser)
c.10577A>G (p.Asn3526Ser)
c.6446A>G (p.Asn2149Ser)
c.5174A>G (p.Asn1725Ser)
c.10529A>G (p.Asn3510Ser)
2g.195787086T>GCA349933800DNAH7c.10802A>C (p.Asn3601Thr)
c.251A>C (p.Asn84Thr)
c.10682A>C (p.Asn3561Thr)
c.10664A>C (p.Asn3555Thr)
c.10577A>C (p.Asn3526Thr)
c.6446A>C (p.Asn2149Thr)
c.5174A>C (p.Asn1725Thr)
c.10529A>C (p.Asn3510Thr)
2g.195787087T>ACA349933803DNAH7c.10801A>T (p.Asn3601Tyr)
c.250A>T (p.Asn84Tyr)
c.10681A>T (p.Asn3561Tyr)
c.10663A>T (p.Asn3555Tyr)
c.10576A>T (p.Asn3526Tyr)
c.6445A>T (p.Asn2149Tyr)
c.5173A>T (p.Asn1725Tyr)
c.10528A>T (p.Asn3510Tyr)
gnomAD v4
2g.195787087T>CCA349933802DNAH7c.10801A>G (p.Asn3601Asp)
c.250A>G (p.Asn84Asp)
c.10681A>G (p.Asn3561Asp)
c.10663A>G (p.Asn3555Asp)
c.10576A>G (p.Asn3526Asp)
c.6445A>G (p.Asn2149Asp)
c.5173A>G (p.Asn1725Asp)
c.10528A>G (p.Asn3510Asp)
2g.195787087T>GCA349933801DNAH7c.10801A>C (p.Asn3601His)
c.250A>C (p.Asn84His)
c.10681A>C (p.Asn3561His)
c.10663A>C (p.Asn3555His)
c.10576A>C (p.Asn3526His)
c.6445A>C (p.Asn2149His)
c.5173A>C (p.Asn1725His)
c.10528A>C (p.Asn3510His)
2g.195787088C>ACA349933804DNAH7c.10800G>T (p.Trp3600Cys)
c.249G>T (p.Trp83Cys)
c.10680G>T (p.Trp3560Cys)
c.10662G>T (p.Trp3554Cys)
c.10575G>T (p.Trp3525Cys)
c.6444G>T (p.Trp2148Cys)
c.5172G>T (p.Trp1724Cys)
c.10527G>T (p.Trp3509Cys)
2g.195787088C=CA1318501948DNAH7c.10800G= (p.Trp3600=)
c.249G= (p.Trp83=)
c.10680G= (p.Trp3560=)
c.10662G= (p.Trp3554=)
c.10575G= (p.Trp3525=)
c.6444G= (p.Trp2148=)
c.5172G= (p.Trp1724=)
c.10527G= (p.Trp3509=)
2g.195787088C>GCA349933805DNAH7c.10800G>C (p.Trp3600Cys)
c.249G>C (p.Trp83Cys)
c.10680G>C (p.Trp3560Cys)
c.10662G>C (p.Trp3554Cys)
c.10575G>C (p.Trp3525Cys)
c.6444G>C (p.Trp2148Cys)
c.5172G>C (p.Trp1724Cys)
c.10527G>C (p.Trp3509Cys)
2g.195787088C>TCA349933806DNAH7c.10800G>A (p.Trp3600Ter)
c.249G>A (p.Trp83Ter)
c.10680G>A (p.Trp3560Ter)
c.10662G>A (p.Trp3554Ter)
c.10575G>A (p.Trp3525Ter)
c.6444G>A (p.Trp2148Ter)
c.5172G>A (p.Trp1724Ter)
c.10527G>A (p.Trp3509Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787089C>ACA349933807DNAH7c.10799G>T (p.Trp3600Leu)
c.248G>T (p.Trp83Leu)
c.10679G>T (p.Trp3560Leu)
c.10661G>T (p.Trp3554Leu)
c.10574G>T (p.Trp3525Leu)
c.6443G>T (p.Trp2148Leu)
c.5171G>T (p.Trp1724Leu)
c.10526G>T (p.Trp3509Leu)
2g.195787089C=CA1318501957DNAH7c.10799G= (p.Trp3600=)
c.248G= (p.Trp83=)
c.10679G= (p.Trp3560=)
c.10661G= (p.Trp3554=)
c.10574G= (p.Trp3525=)
c.6443G= (p.Trp2148=)
c.5171G= (p.Trp1724=)
c.10526G= (p.Trp3509=)
2g.195787089C>GCA349933808DNAH7c.10799G>C (p.Trp3600Ser)
c.248G>C (p.Trp83Ser)
c.10679G>C (p.Trp3560Ser)
c.10661G>C (p.Trp3554Ser)
c.10574G>C (p.Trp3525Ser)
c.6443G>C (p.Trp2148Ser)
c.5171G>C (p.Trp1724Ser)
c.10526G>C (p.Trp3509Ser)
2g.195787089C>TCA349933809DNAH7c.10799G>A (p.Trp3600Ter)
c.248G>A (p.Trp83Ter)
c.10679G>A (p.Trp3560Ter)
c.10661G>A (p.Trp3554Ter)
c.10574G>A (p.Trp3525Ter)
c.6443G>A (p.Trp2148Ter)
c.5171G>A (p.Trp1724Ter)
c.10526G>A (p.Trp3509Ter)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.195787090A>CCA349933810DNAH7c.10798T>G (p.Trp3600Gly)
c.247T>G (p.Trp83Gly)
c.10678T>G (p.Trp3560Gly)
c.10660T>G (p.Trp3554Gly)
c.10573T>G (p.Trp3525Gly)
c.6442T>G (p.Trp2148Gly)
c.5170T>G (p.Trp1724Gly)
c.10525T>G (p.Trp3509Gly)
2g.195787090A>GCA349933811DNAH7c.10798T>C (p.Trp3600Arg)
c.247T>C (p.Trp83Arg)
c.10678T>C (p.Trp3560Arg)
c.10660T>C (p.Trp3554Arg)
c.10573T>C (p.Trp3525Arg)
c.6442T>C (p.Trp2148Arg)
c.5170T>C (p.Trp1724Arg)
c.10525T>C (p.Trp3509Arg)
gnomAD v4
2g.195787090A>TCA349933812DNAH7c.10798T>A (p.Trp3600Arg)
c.247T>A (p.Trp83Arg)
c.10678T>A (p.Trp3560Arg)
c.10660T>A (p.Trp3554Arg)
c.10573T>A (p.Trp3525Arg)
c.6442T>A (p.Trp2148Arg)
c.5170T>A (p.Trp1724Arg)
c.10525T>A (p.Trp3509Arg)
2g.195787091C>ACA430536931DNAH7c.10797G>T (p.Gly3599=)
c.246G>T (p.Gly82=)
c.10677G>T (p.Gly3559=)
c.10659G>T (p.Gly3553=)
c.10572G>T (p.Gly3524=)
c.6441G>T (p.Gly2147=)
c.5169G>T (p.Gly1723=)
c.10524G>T (p.Gly3508=)
2g.195787091C=CA1318501965DNAH7c.10797G= (p.Gly3599=)
c.246G= (p.Gly82=)
c.10677G= (p.Gly3559=)
c.10659G= (p.Gly3553=)
c.10572G= (p.Gly3524=)
c.6441G= (p.Gly2147=)
c.5169G= (p.Gly1723=)
c.10524G= (p.Gly3508=)
2g.195787091C>GCA430536928DNAH7c.10797G>C (p.Gly3599=)
c.246G>C (p.Gly82=)
c.10677G>C (p.Gly3559=)
c.10659G>C (p.Gly3553=)
c.10572G>C (p.Gly3524=)
c.6441G>C (p.Gly2147=)
c.5169G>C (p.Gly1723=)
c.10524G>C (p.Gly3508=)
2g.195787091C>TCA430536926DNAH7c.10797G>A (p.Gly3599=)
c.246G>A (p.Gly82=)
c.10677G>A (p.Gly3559=)
c.10659G>A (p.Gly3553=)
c.10572G>A (p.Gly3524=)
c.6441G>A (p.Gly2147=)
c.5169G>A (p.Gly1723=)
c.10524G>A (p.Gly3508=)
dbSNP gnomAD v2 gnomAD v4
2g.195787092C>ACA349933813DNAH7c.10796G>T (p.Gly3599Val)
c.245G>T (p.Gly82Val)
c.10676G>T (p.Gly3559Val)
c.10658G>T (p.Gly3553Val)
c.10571G>T (p.Gly3524Val)
c.6440G>T (p.Gly2147Val)
c.5168G>T (p.Gly1723Val)
c.10523G>T (p.Gly3508Val)
2g.195787092C>GCA349933814DNAH7c.10796G>C (p.Gly3599Ala)
c.245G>C (p.Gly82Ala)
c.10676G>C (p.Gly3559Ala)
c.10658G>C (p.Gly3553Ala)
c.10571G>C (p.Gly3524Ala)
c.6440G>C (p.Gly2147Ala)
c.5168G>C (p.Gly1723Ala)
c.10523G>C (p.Gly3508Ala)
2g.195787092C>TCA349933815DNAH7c.10796G>A (p.Gly3599Glu)
c.245G>A (p.Gly82Glu)
c.10676G>A (p.Gly3559Glu)
c.10658G>A (p.Gly3553Glu)
c.10571G>A (p.Gly3524Glu)
c.6440G>A (p.Gly2147Glu)
c.5168G>A (p.Gly1723Glu)
c.10523G>A (p.Gly3508Glu)
gnomAD v4
2g.195787093C>ACA349933817DNAH7c.10795G>T (p.Gly3599Trp)
c.244G>T (p.Gly82Trp)
c.10675G>T (p.Gly3559Trp)
c.10657G>T (p.Gly3553Trp)
c.10570G>T (p.Gly3524Trp)
c.6439G>T (p.Gly2147Trp)
c.5167G>T (p.Gly1723Trp)
c.10522G>T (p.Gly3508Trp)
COSMIC
2g.195787093C>GCA349933818DNAH7c.10795G>C (p.Gly3599Arg)
c.244G>C (p.Gly82Arg)
c.10675G>C (p.Gly3559Arg)
c.10657G>C (p.Gly3553Arg)
c.10570G>C (p.Gly3524Arg)
c.6439G>C (p.Gly2147Arg)
c.5167G>C (p.Gly1723Arg)
c.10522G>C (p.Gly3508Arg)
gnomAD v4
2g.195787093C>TCA349933816DNAH7c.10795G>A (p.Gly3599Arg)
c.244G>A (p.Gly82Arg)
c.10675G>A (p.Gly3559Arg)
c.10657G>A (p.Gly3553Arg)
c.10570G>A (p.Gly3524Arg)
c.6439G>A (p.Gly2147Arg)
c.5167G>A (p.Gly1723Arg)
c.10522G>A (p.Gly3508Arg)
2g.195787093_195787094insACA2662432928DNAH7c.10794_10795insT (p.Gly3599TrpfsTer7)
c.243_244insT (p.Gly82TrpfsTer7)
c.10674_10675insT (p.Gly3559TrpfsTer7)
c.10656_10657insT (p.Gly3553TrpfsTer7)
c.10569_10570insT (p.Gly3524TrpfsTer7)
c.6438_6439insT (p.Gly2147TrpfsTer7)
c.5166_5167insT (p.Gly1723TrpfsTer7)
c.10521_10522insT (p.Gly3508TrpfsTer7)
gnomAD v4
2g.195787094T>ACA430536940DNAH7c.10794A>T (p.Leu3598=)
c.243A>T (p.Leu81=)
c.10674A>T (p.Leu3558=)
c.10656A>T (p.Leu3552=)
c.10569A>T (p.Leu3523=)
c.6438A>T (p.Leu2146=)
c.5166A>T (p.Leu1722=)
c.10521A>T (p.Leu3507=)
2g.195787094T>CCA430536944DNAH7c.10794A>G (p.Leu3598=)
c.243A>G (p.Leu81=)
c.10674A>G (p.Leu3558=)
c.10656A>G (p.Leu3552=)
c.10569A>G (p.Leu3523=)
c.6438A>G (p.Leu2146=)
c.5166A>G (p.Leu1722=)
c.10521A>G (p.Leu3507=)
2g.195787094T>GCA430536942DNAH7c.10794A>C (p.Leu3598=)
c.243A>C (p.Leu81=)
c.10674A>C (p.Leu3558=)
c.10656A>C (p.Leu3552=)
c.10569A>C (p.Leu3523=)
c.6438A>C (p.Leu2146=)
c.5166A>C (p.Leu1722=)
c.10521A>C (p.Leu3507=)
2g.195787095A=CA1318501973DNAH7c.10793T= (p.Leu3598=)
c.242T= (p.Leu81=)
c.10673T= (p.Leu3558=)
c.10655T= (p.Leu3552=)
c.10568T= (p.Leu3523=)
c.6437T= (p.Leu2146=)
c.5165T= (p.Leu1722=)
c.10520T= (p.Leu3507=)
2g.195787095A>CCA349933819DNAH7c.10793T>G (p.Leu3598Arg)
c.242T>G (p.Leu81Arg)
c.10673T>G (p.Leu3558Arg)
c.10655T>G (p.Leu3552Arg)
c.10568T>G (p.Leu3523Arg)
c.6437T>G (p.Leu2146Arg)
c.5165T>G (p.Leu1722Arg)
c.10520T>G (p.Leu3507Arg)
2g.195787095A>GCA349933820DNAH7c.10793T>C (p.Leu3598Pro)
c.242T>C (p.Leu81Pro)
c.10673T>C (p.Leu3558Pro)
c.10655T>C (p.Leu3552Pro)
c.10568T>C (p.Leu3523Pro)
c.6437T>C (p.Leu2146Pro)
c.5165T>C (p.Leu1722Pro)
c.10520T>C (p.Leu3507Pro)
2g.195787095A>TCA349933821DNAH7c.10793T>A (p.Leu3598Gln)
c.242T>A (p.Leu81Gln)
c.10673T>A (p.Leu3558Gln)
c.10655T>A (p.Leu3552Gln)
c.10568T>A (p.Leu3523Gln)
c.6437T>A (p.Leu2146Gln)
c.5165T>A (p.Leu1722Gln)
c.10520T>A (p.Leu3507Gln)
COSMIC
2g.195787096G>ACA430536950DNAH7c.10792C>T (p.Leu3598=)
c.241C>T (p.Leu81=)
c.10672C>T (p.Leu3558=)
c.10654C>T (p.Leu3552=)
c.10567C>T (p.Leu3523=)
c.6436C>T (p.Leu2146=)
c.5164C>T (p.Leu1722=)
c.10519C>T (p.Leu3507=)
2g.195787096G>CCA349933822DNAH7c.10792C>G (p.Leu3598Val)
c.241C>G (p.Leu81Val)
c.10672C>G (p.Leu3558Val)
c.10654C>G (p.Leu3552Val)
c.10567C>G (p.Leu3523Val)
c.6436C>G (p.Leu2146Val)
c.5164C>G (p.Leu1722Val)
c.10519C>G (p.Leu3507Val)
2g.195787096G>TCA349933823DNAH7c.10792C>A (p.Leu3598Ile)
c.241C>A (p.Leu81Ile)
c.10672C>A (p.Leu3558Ile)
c.10654C>A (p.Leu3552Ile)
c.10567C>A (p.Leu3523Ile)
c.6436C>A (p.Leu2146Ile)
c.5164C>A (p.Leu1722Ile)
c.10519C>A (p.Leu3507Ile)
2g.195787099dupCA538495320DNAH7c.10792dup (p.Leu3598ProfsTer8)
c.241dup (p.Leu81ProfsTer8)
c.10672dup (p.Leu3558ProfsTer8)
c.10654dup (p.Leu3552ProfsTer8)
c.10567dup (p.Leu3523ProfsTer8)
c.6436dup (p.Leu2146ProfsTer8)
c.5164dup (p.Leu1722ProfsTer8)
c.10519dup (p.Leu3507ProfsTer8)
dbSNP gnomAD v2 gnomAD v4
2g.195787097G>ACA430536954DNAH7c.10791C>T (p.Pro3597=)
c.240C>T (p.Pro80=)
c.10671C>T (p.Pro3557=)
c.10653C>T (p.Pro3551=)
c.10566C>T (p.Pro3522=)
c.6435C>T (p.Pro2145=)
c.5163C>T (p.Pro1721=)
c.10518C>T (p.Pro3506=)
gnomAD v4
2g.195787097G>CCA430536955DNAH7c.10791C>G (p.Pro3597=)
c.240C>G (p.Pro80=)
c.10671C>G (p.Pro3557=)
c.10653C>G (p.Pro3551=)
c.10566C>G (p.Pro3522=)
c.6435C>G (p.Pro2145=)
c.5163C>G (p.Pro1721=)
c.10518C>G (p.Pro3506=)
2g.195787097G>TCA430536957DNAH7c.10791C>A (p.Pro3597=)
c.240C>A (p.Pro80=)
c.10671C>A (p.Pro3557=)
c.10653C>A (p.Pro3551=)
c.10566C>A (p.Pro3522=)
c.6435C>A (p.Pro2145=)
c.5163C>A (p.Pro1721=)
c.10518C>A (p.Pro3506=)
2g.195787098G>ACA349933826DNAH7c.10790C>T (p.Pro3597Leu)
c.239C>T (p.Pro80Leu)
c.10670C>T (p.Pro3557Leu)
c.10652C>T (p.Pro3551Leu)
c.10565C>T (p.Pro3522Leu)
c.6434C>T (p.Pro2145Leu)
c.5162C>T (p.Pro1721Leu)
c.10517C>T (p.Pro3506Leu)
gnomAD v4
2g.195787098G>CCA349933825DNAH7c.10790C>G (p.Pro3597Arg)
c.239C>G (p.Pro80Arg)
c.10670C>G (p.Pro3557Arg)
c.10652C>G (p.Pro3551Arg)
c.10565C>G (p.Pro3522Arg)
c.6434C>G (p.Pro2145Arg)
c.5162C>G (p.Pro1721Arg)
c.10517C>G (p.Pro3506Arg)
2g.195787098G>TCA349933824DNAH7c.10790C>A (p.Pro3597His)
c.239C>A (p.Pro80His)
c.10670C>A (p.Pro3557His)
c.10652C>A (p.Pro3551His)
c.10565C>A (p.Pro3522His)
c.6434C>A (p.Pro2145His)
c.5162C>A (p.Pro1721His)
c.10517C>A (p.Pro3506His)
gnomAD v4
2g.195787099G>ACA349933827DNAH7c.10789C>T (p.Pro3597Ser)
c.238C>T (p.Pro80Ser)
c.10669C>T (p.Pro3557Ser)
c.10651C>T (p.Pro3551Ser)
c.10564C>T (p.Pro3522Ser)
c.6433C>T (p.Pro2145Ser)
c.5161C>T (p.Pro1721Ser)
c.10516C>T (p.Pro3506Ser)
2g.195787099G>CCA349933828DNAH7c.10789C>G (p.Pro3597Ala)
c.238C>G (p.Pro80Ala)
c.10669C>G (p.Pro3557Ala)
c.10651C>G (p.Pro3551Ala)
c.10564C>G (p.Pro3522Ala)
c.6433C>G (p.Pro2145Ala)
c.5161C>G (p.Pro1721Ala)
c.10516C>G (p.Pro3506Ala)
2g.195787099G=CA1318501976DNAH7c.10789C= (p.Pro3597=)
c.238C= (p.Pro80=)
c.10669C= (p.Pro3557=)
c.10651C= (p.Pro3551=)
c.10564C= (p.Pro3522=)
c.6433C= (p.Pro2145=)
c.5161C= (p.Pro1721=)
c.10516C= (p.Pro3506=)
2g.195787099G>TCA349933829DNAH7c.10789C>A (p.Pro3597Thr)
c.238C>A (p.Pro80Thr)
c.10669C>A (p.Pro3557Thr)
c.10651C>A (p.Pro3551Thr)
c.10564C>A (p.Pro3522Thr)
c.6433C>A (p.Pro2145Thr)
c.5161C>A (p.Pro1721Thr)
c.10516C>A (p.Pro3506Thr)
dbSNP gnomAD v4
2g.195787100T>ACA430536967DNAH7c.10788A>T (p.Gly3596=)
c.237A>T (p.Gly79=)
c.10668A>T (p.Gly3556=)
c.10650A>T (p.Gly3550=)
c.10563A>T (p.Gly3521=)
c.6432A>T (p.Gly2144=)
c.5160A>T (p.Gly1720=)
c.10515A>T (p.Gly3505=)
2g.195787100T>CCA430536966DNAH7c.10788A>G (p.Gly3596=)
c.237A>G (p.Gly79=)
c.10668A>G (p.Gly3556=)
c.10650A>G (p.Gly3550=)
c.10563A>G (p.Gly3521=)
c.6432A>G (p.Gly2144=)
c.5160A>G (p.Gly1720=)
c.10515A>G (p.Gly3505=)
2g.195787100T>GCA430536969DNAH7c.10788A>C (p.Gly3596=)
c.237A>C (p.Gly79=)
c.10668A>C (p.Gly3556=)
c.10650A>C (p.Gly3550=)
c.10563A>C (p.Gly3521=)
c.6432A>C (p.Gly2144=)
c.5160A>C (p.Gly1720=)
c.10515A>C (p.Gly3505=)
2g.195787101C>ACA349933830DNAH7c.10787G>T (p.Gly3596Val)
c.236G>T (p.Gly79Val)
c.10667G>T (p.Gly3556Val)
c.10649G>T (p.Gly3550Val)
c.10562G>T (p.Gly3521Val)
c.6431G>T (p.Gly2144Val)
c.5159G>T (p.Gly1720Val)
c.10514G>T (p.Gly3505Val)
dbSNP
2g.195787101C=CA1318501986DNAH7c.10787G= (p.Gly3596=)
c.236G= (p.Gly79=)
c.10667G= (p.Gly3556=)
c.10649G= (p.Gly3550=)
c.10562G= (p.Gly3521=)
c.6431G= (p.Gly2144=)
c.5159G= (p.Gly1720=)
c.10514G= (p.Gly3505=)
2g.195787101C>GCA349933831DNAH7c.10787G>C (p.Gly3596Ala)
c.236G>C (p.Gly79Ala)
c.10667G>C (p.Gly3556Ala)
c.10649G>C (p.Gly3550Ala)
c.10562G>C (p.Gly3521Ala)
c.6431G>C (p.Gly2144Ala)
c.5159G>C (p.Gly1720Ala)
c.10514G>C (p.Gly3505Ala)
2g.195787101C>TCA349933832DNAH7c.10787G>A (p.Gly3596Glu)
c.236G>A (p.Gly79Glu)
c.10667G>A (p.Gly3556Glu)
c.10649G>A (p.Gly3550Glu)
c.10562G>A (p.Gly3521Glu)
c.6431G>A (p.Gly2144Glu)
c.5159G>A (p.Gly1720Glu)
c.10514G>A (p.Gly3505Glu)
COSMIC
2g.195787102C>ACA349933833DNAH7c.10786G>T (p.Gly3596Ter)
c.235G>T (p.Gly79Ter)
c.10666G>T (p.Gly3556Ter)
c.10648G>T (p.Gly3550Ter)
c.10561G>T (p.Gly3521Ter)
c.6430G>T (p.Gly2144Ter)
c.5158G>T (p.Gly1720Ter)
c.10513G>T (p.Gly3505Ter)
2g.195787102C>GCA349933835DNAH7c.10786G>C (p.Gly3596Arg)
c.235G>C (p.Gly79Arg)
c.10666G>C (p.Gly3556Arg)
c.10648G>C (p.Gly3550Arg)
c.10561G>C (p.Gly3521Arg)
c.6430G>C (p.Gly2144Arg)
c.5158G>C (p.Gly1720Arg)
c.10513G>C (p.Gly3505Arg)
2g.195787102C>TCA349933834DNAH7c.10786G>A (p.Gly3596Arg)
c.235G>A (p.Gly79Arg)
c.10666G>A (p.Gly3556Arg)
c.10648G>A (p.Gly3550Arg)
c.10561G>A (p.Gly3521Arg)
c.6430G>A (p.Gly2144Arg)
c.5158G>A (p.Gly1720Arg)
c.10513G>A (p.Gly3505Arg)
gnomAD v4
2g.195787103A>CCA349933836DNAH7c.10785T>G (p.Phe3595Leu)
c.234T>G (p.Phe78Leu)
c.10665T>G (p.Phe3555Leu)
c.10647T>G (p.Phe3549Leu)
c.10560T>G (p.Phe3520Leu)
c.6429T>G (p.Phe2143Leu)
c.5157T>G (p.Phe1719Leu)
c.10512T>G (p.Phe3504Leu)
2g.195787103A>GCA430536980DNAH7c.10785T>C (p.Phe3595=)
c.234T>C (p.Phe78=)
c.10665T>C (p.Phe3555=)
c.10647T>C (p.Phe3549=)
c.10560T>C (p.Phe3520=)
c.6429T>C (p.Phe2143=)
c.5157T>C (p.Phe1719=)
c.10512T>C (p.Phe3504=)
2g.195787103A>TCA349933837DNAH7c.10785T>A (p.Phe3595Leu)
c.234T>A (p.Phe78Leu)
c.10665T>A (p.Phe3555Leu)
c.10647T>A (p.Phe3549Leu)
c.10560T>A (p.Phe3520Leu)
c.6429T>A (p.Phe2143Leu)
c.5157T>A (p.Phe1719Leu)
c.10512T>A (p.Phe3504Leu)
2g.195787104A>CCA349933838DNAH7c.10784T>G (p.Phe3595Cys)
c.233T>G (p.Phe78Cys)
c.10664T>G (p.Phe3555Cys)
c.10646T>G (p.Phe3549Cys)
c.10559T>G (p.Phe3520Cys)
c.6428T>G (p.Phe2143Cys)
c.5156T>G (p.Phe1719Cys)
c.10511T>G (p.Phe3504Cys)
2g.195787104A>GCA349933839DNAH7c.10784T>C (p.Phe3595Ser)
c.233T>C (p.Phe78Ser)
c.10664T>C (p.Phe3555Ser)
c.10646T>C (p.Phe3549Ser)
c.10559T>C (p.Phe3520Ser)
c.6428T>C (p.Phe2143Ser)
c.5156T>C (p.Phe1719Ser)
c.10511T>C (p.Phe3504Ser)
2g.195787104A>TCA349933840DNAH7c.10784T>A (p.Phe3595Tyr)
c.233T>A (p.Phe78Tyr)
c.10664T>A (p.Phe3555Tyr)
c.10646T>A (p.Phe3549Tyr)
c.10559T>A (p.Phe3520Tyr)
c.6428T>A (p.Phe2143Tyr)
c.5156T>A (p.Phe1719Tyr)
c.10511T>A (p.Phe3504Tyr)
2g.195787105A>CCA349933841DNAH7c.10783T>G (p.Phe3595Val)
c.232T>G (p.Phe78Val)
c.10663T>G (p.Phe3555Val)
c.10645T>G (p.Phe3549Val)
c.10558T>G (p.Phe3520Val)
c.6427T>G (p.Phe2143Val)
c.5155T>G (p.Phe1719Val)
c.10510T>G (p.Phe3504Val)
2g.195787105A>GCA349933842DNAH7c.10783T>C (p.Phe3595Leu)
c.232T>C (p.Phe78Leu)
c.10663T>C (p.Phe3555Leu)
c.10645T>C (p.Phe3549Leu)
c.10558T>C (p.Phe3520Leu)
c.6427T>C (p.Phe2143Leu)
c.5155T>C (p.Phe1719Leu)
c.10510T>C (p.Phe3504Leu)
2g.195787105A>TCA349933843DNAH7c.10783T>A (p.Phe3595Ile)
c.232T>A (p.Phe78Ile)
c.10663T>A (p.Phe3555Ile)
c.10645T>A (p.Phe3549Ile)
c.10558T>A (p.Phe3520Ile)
c.6427T>A (p.Phe2143Ile)
c.5155T>A (p.Phe1719Ile)
c.10510T>A (p.Phe3504Ile)
2g.195787106T>ACA349933844DNAH7c.10782A>T (p.Lys3594Asn)
c.231A>T (p.Lys77Asn)
c.10662A>T (p.Lys3554Asn)
c.10644A>T (p.Lys3548Asn)
c.10557A>T (p.Lys3519Asn)
c.6426A>T (p.Lys2142Asn)
c.5154A>T (p.Lys1718Asn)
c.10509A>T (p.Lys3503Asn)
2g.195787106T>CCA2033945DNAH7c.10782A>G (p.Lys3594=)
c.231A>G (p.Lys77=)
c.10662A>G (p.Lys3554=)
c.10644A>G (p.Lys3548=)
c.10557A>G (p.Lys3519=)
c.6426A>G (p.Lys2142=)
c.5154A>G (p.Lys1718=)
c.10509A>G (p.Lys3503=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787106T>GCA349933845DNAH7c.10782A>C (p.Lys3594Asn)
c.231A>C (p.Lys77Asn)
c.10662A>C (p.Lys3554Asn)
c.10644A>C (p.Lys3548Asn)
c.10557A>C (p.Lys3519Asn)
c.6426A>C (p.Lys2142Asn)
c.5154A>C (p.Lys1718Asn)
c.10509A>C (p.Lys3503Asn)
2g.195787106T=CA1318501989DNAH7c.10782A= (p.Lys3594=)
c.231A= (p.Lys77=)
c.10662A= (p.Lys3554=)
c.10644A= (p.Lys3548=)
c.10557A= (p.Lys3519=)
c.6426A= (p.Lys2142=)
c.5154A= (p.Lys1718=)
c.10509A= (p.Lys3503=)
2g.195787107T>ACA349933848DNAH7c.10781A>T (p.Lys3594Ile)
c.230A>T (p.Lys77Ile)
c.10661A>T (p.Lys3554Ile)
c.10643A>T (p.Lys3548Ile)
c.10556A>T (p.Lys3519Ile)
c.6425A>T (p.Lys2142Ile)
c.5153A>T (p.Lys1718Ile)
c.10508A>T (p.Lys3503Ile)
2g.195787107T>CCA349933847DNAH7c.10781A>G (p.Lys3594Arg)
c.230A>G (p.Lys77Arg)
c.10661A>G (p.Lys3554Arg)
c.10643A>G (p.Lys3548Arg)
c.10556A>G (p.Lys3519Arg)
c.6425A>G (p.Lys2142Arg)
c.5153A>G (p.Lys1718Arg)
c.10508A>G (p.Lys3503Arg)
2g.195787107T>GCA349933846DNAH7c.10781A>C (p.Lys3594Thr)
c.230A>C (p.Lys77Thr)
c.10661A>C (p.Lys3554Thr)
c.10643A>C (p.Lys3548Thr)
c.10556A>C (p.Lys3519Thr)
c.6425A>C (p.Lys2142Thr)
c.5153A>C (p.Lys1718Thr)
c.10508A>C (p.Lys3503Thr)
2g.195787108T>ACA349933849DNAH7c.10780A>T (p.Lys3594Ter)
c.229A>T (p.Lys77Ter)
c.10660A>T (p.Lys3554Ter)
c.10642A>T (p.Lys3548Ter)
c.10555A>T (p.Lys3519Ter)
c.6424A>T (p.Lys2142Ter)
c.5152A>T (p.Lys1718Ter)
c.10507A>T (p.Lys3503Ter)
2g.195787108T>CCA2033946DNAH7c.10780A>G (p.Lys3594Glu)
c.229A>G (p.Lys77Glu)
c.10660A>G (p.Lys3554Glu)
c.10642A>G (p.Lys3548Glu)
c.10555A>G (p.Lys3519Glu)
c.6424A>G (p.Lys2142Glu)
c.5152A>G (p.Lys1718Glu)
c.10507A>G (p.Lys3503Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787108T>GCA349933850DNAH7c.10780A>C (p.Lys3594Gln)
c.229A>C (p.Lys77Gln)
c.10660A>C (p.Lys3554Gln)
c.10642A>C (p.Lys3548Gln)
c.10555A>C (p.Lys3519Gln)
c.6424A>C (p.Lys2142Gln)
c.5152A>C (p.Lys1718Gln)
c.10507A>C (p.Lys3503Gln)
2g.195787108T=CA1318501992DNAH7c.10780A= (p.Lys3594=)
c.229A= (p.Lys77=)
c.10660A= (p.Lys3554=)
c.10642A= (p.Lys3548=)
c.10555A= (p.Lys3519=)
c.6424A= (p.Lys2142=)
c.5152A= (p.Lys1718=)
c.10507A= (p.Lys3503=)
2g.195787109C>ACA430537001DNAH7c.10779G>T (p.Arg3593=)
c.228G>T (p.Arg76=)
c.10659G>T (p.Arg3553=)
c.10641G>T (p.Arg3547=)
c.10554G>T (p.Arg3518=)
c.6423G>T (p.Arg2141=)
c.5151G>T (p.Arg1717=)
c.10506G>T (p.Arg3502=)
2g.195787109C>GCA430537002DNAH7c.10779G>C (p.Arg3593=)
c.228G>C (p.Arg76=)
c.10659G>C (p.Arg3553=)
c.10641G>C (p.Arg3547=)
c.10554G>C (p.Arg3518=)
c.6423G>C (p.Arg2141=)
c.5151G>C (p.Arg1717=)
c.10506G>C (p.Arg3502=)
2g.195787109C>TCA430537005DNAH7c.10779G>A (p.Arg3593=)
c.228G>A (p.Arg76=)
c.10659G>A (p.Arg3553=)
c.10641G>A (p.Arg3547=)
c.10554G>A (p.Arg3518=)
c.6423G>A (p.Arg2141=)
c.5151G>A (p.Arg1717=)
c.10506G>A (p.Arg3502=)
COSMIC
2g.195787110C>ACA349933851DNAH7c.10778G>T (p.Arg3593Leu)
c.227G>T (p.Arg76Leu)
c.10658G>T (p.Arg3553Leu)
c.10640G>T (p.Arg3547Leu)
c.10553G>T (p.Arg3518Leu)
c.6422G>T (p.Arg2141Leu)
c.5150G>T (p.Arg1717Leu)
c.10505G>T (p.Arg3502Leu)
2g.195787110C=CA1318502002DNAH7c.10778G= (p.Arg3593=)
c.227G= (p.Arg76=)
c.10658G= (p.Arg3553=)
c.10640G= (p.Arg3547=)
c.10553G= (p.Arg3518=)
c.6422G= (p.Arg2141=)
c.5150G= (p.Arg1717=)
c.10505G= (p.Arg3502=)
2g.195787110C>GCA349933852DNAH7c.10778G>C (p.Arg3593Pro)
c.227G>C (p.Arg76Pro)
c.10658G>C (p.Arg3553Pro)
c.10640G>C (p.Arg3547Pro)
c.10553G>C (p.Arg3518Pro)
c.6422G>C (p.Arg2141Pro)
c.5150G>C (p.Arg1717Pro)
c.10505G>C (p.Arg3502Pro)
2g.195787110C>TCA2033947DNAH7c.10778G>A (p.Arg3593Gln)
c.227G>A (p.Arg76Gln)
c.10658G>A (p.Arg3553Gln)
c.10640G>A (p.Arg3547Gln)
c.10553G>A (p.Arg3518Gln)
c.6422G>A (p.Arg2141Gln)
c.5150G>A (p.Arg1717Gln)
c.10505G>A (p.Arg3502Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.195787111G>ACA2033948DNAH7c.10777C>T (p.Arg3593Trp)
c.226C>T (p.Arg76Trp)
c.10657C>T (p.Arg3553Trp)
c.10639C>T (p.Arg3547Trp)
c.10552C>T (p.Arg3518Trp)
c.6421C>T (p.Arg2141Trp)
c.5149C>T (p.Arg1717Trp)
c.10504C>T (p.Arg3502Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787111G>CCA349933853DNAH7c.10777C>G (p.Arg3593Gly)
c.226C>G (p.Arg76Gly)
c.10657C>G (p.Arg3553Gly)
c.10639C>G (p.Arg3547Gly)
c.10552C>G (p.Arg3518Gly)
c.6421C>G (p.Arg2141Gly)
c.5149C>G (p.Arg1717Gly)
c.10504C>G (p.Arg3502Gly)
2g.195787111G=CA1318502008DNAH7c.10777C= (p.Arg3593=)
c.226C= (p.Arg76=)
c.10657C= (p.Arg3553=)
c.10639C= (p.Arg3547=)
c.10552C= (p.Arg3518=)
c.6421C= (p.Arg2141=)
c.5149C= (p.Arg1717=)
c.10504C= (p.Arg3502=)
2g.195787111G>TCA430537011DNAH7c.10777C>A (p.Arg3593=)
c.226C>A (p.Arg76=)
c.10657C>A (p.Arg3553=)
c.10639C>A (p.Arg3547=)
c.10552C>A (p.Arg3518=)
c.6421C>A (p.Arg2141=)
c.5149C>A (p.Arg1717=)
c.10504C>A (p.Arg3502=)
gnomAD v4
2g.195787112T>ACA349933854DNAH7c.10776A>T (p.Arg3592Ser)
c.225A>T (p.Arg75Ser)
c.10656A>T (p.Arg3552Ser)
c.10638A>T (p.Arg3546Ser)
c.10551A>T (p.Arg3517Ser)
c.6420A>T (p.Arg2140Ser)
c.5148A>T (p.Arg1716Ser)
c.10503A>T (p.Arg3501Ser)
2g.195787112T>CCA430537016DNAH7c.10776A>G (p.Arg3592=)
c.225A>G (p.Arg75=)
c.10656A>G (p.Arg3552=)
c.10638A>G (p.Arg3546=)
c.10551A>G (p.Arg3517=)
c.6420A>G (p.Arg2140=)
c.5148A>G (p.Arg1716=)
c.10503A>G (p.Arg3501=)
2g.195787112T>GCA349933855DNAH7c.10776A>C (p.Arg3592Ser)
c.225A>C (p.Arg75Ser)
c.10656A>C (p.Arg3552Ser)
c.10638A>C (p.Arg3546Ser)
c.10551A>C (p.Arg3517Ser)
c.6420A>C (p.Arg2140Ser)
c.5148A>C (p.Arg1716Ser)
c.10503A>C (p.Arg3501Ser)
2g.195787113C>ACA349933856DNAH7c.10775G>T (p.Arg3592Ile)
c.224G>T (p.Arg75Ile)
c.10655G>T (p.Arg3552Ile)
c.10637G>T (p.Arg3546Ile)
c.10550G>T (p.Arg3517Ile)
c.6419G>T (p.Arg2140Ile)
c.5147G>T (p.Arg1716Ile)
c.10502G>T (p.Arg3501Ile)
2g.195787113C>GCA349933858DNAH7c.10775G>C (p.Arg3592Thr)
c.224G>C (p.Arg75Thr)
c.10655G>C (p.Arg3552Thr)
c.10637G>C (p.Arg3546Thr)
c.10550G>C (p.Arg3517Thr)
c.6419G>C (p.Arg2140Thr)
c.5147G>C (p.Arg1716Thr)
c.10502G>C (p.Arg3501Thr)
2g.195787113C>TCA349933857DNAH7c.10775G>A (p.Arg3592Lys)
c.224G>A (p.Arg75Lys)
c.10655G>A (p.Arg3552Lys)
c.10637G>A (p.Arg3546Lys)
c.10550G>A (p.Arg3517Lys)
c.6419G>A (p.Arg2140Lys)
c.5147G>A (p.Arg1716Lys)
c.10502G>A (p.Arg3501Lys)
2g.195787114T>ACA349933859DNAH7c.10774A>T (p.Arg3592Ter)
c.223A>T (p.Arg75Ter)
c.10654A>T (p.Arg3552Ter)
c.10636A>T (p.Arg3546Ter)
c.10549A>T (p.Arg3517Ter)
c.6418A>T (p.Arg2140Ter)
c.5146A>T (p.Arg1716Ter)
c.10501A>T (p.Arg3501Ter)
2g.195787114T>CCA2033949DNAH7c.10774A>G (p.Arg3592Gly)
c.223A>G (p.Arg75Gly)
c.10654A>G (p.Arg3552Gly)
c.10636A>G (p.Arg3546Gly)
c.10549A>G (p.Arg3517Gly)
c.6418A>G (p.Arg2140Gly)
c.5146A>G (p.Arg1716Gly)
c.10501A>G (p.Arg3501Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787114T>GCA430537022DNAH7c.10774A>C (p.Arg3592=)
c.223A>C (p.Arg75=)
c.10654A>C (p.Arg3552=)
c.10636A>C (p.Arg3546=)
c.10549A>C (p.Arg3517=)
c.6418A>C (p.Arg2140=)
c.5146A>C (p.Arg1716=)
c.10501A>C (p.Arg3501=)
2g.195787114T=CA1318502019DNAH7c.10774A= (p.Arg3592=)
c.223A= (p.Arg75=)
c.10654A= (p.Arg3552=)
c.10636A= (p.Arg3546=)
c.10549A= (p.Arg3517=)
c.6418A= (p.Arg2140=)
c.5146A= (p.Arg1716=)
c.10501A= (p.Arg3501=)
2g.195787115T>ACA349933860DNAH7c.10773A>T (p.Glu3591Asp)
c.222A>T (p.Glu74Asp)
c.10653A>T (p.Glu3551Asp)
c.10635A>T (p.Glu3545Asp)
c.10548A>T (p.Glu3516Asp)
c.6417A>T (p.Glu2139Asp)
c.5145A>T (p.Glu1715Asp)
c.10500A>T (p.Glu3500Asp)
dbSNP
2g.195787115T>CCA430537025DNAH7c.10773A>G (p.Glu3591=)
c.222A>G (p.Glu74=)
c.10653A>G (p.Glu3551=)
c.10635A>G (p.Glu3545=)
c.10548A>G (p.Glu3516=)
c.6417A>G (p.Glu2139=)
c.5145A>G (p.Glu1715=)
c.10500A>G (p.Glu3500=)
2g.195787115T>GCA349933861DNAH7c.10773A>C (p.Glu3591Asp)
c.222A>C (p.Glu74Asp)
c.10653A>C (p.Glu3551Asp)
c.10635A>C (p.Glu3545Asp)
c.10548A>C (p.Glu3516Asp)
c.6417A>C (p.Glu2139Asp)
c.5145A>C (p.Glu1715Asp)
c.10500A>C (p.Glu3500Asp)
2g.195787115T=CA1318502021DNAH7c.10773A= (p.Glu3591=)
c.222A= (p.Glu74=)
c.10653A= (p.Glu3551=)
c.10635A= (p.Glu3545=)
c.10548A= (p.Glu3516=)
c.6417A= (p.Glu2139=)
c.5145A= (p.Glu1715=)
c.10500A= (p.Glu3500=)
2g.195787116T>ACA349933862DNAH7c.10772A>T (p.Glu3591Val)
c.221A>T (p.Glu74Val)
c.10652A>T (p.Glu3551Val)
c.10634A>T (p.Glu3545Val)
c.10547A>T (p.Glu3516Val)
c.6416A>T (p.Glu2139Val)
c.5144A>T (p.Glu1715Val)
c.10499A>T (p.Glu3500Val)
2g.195787116T>CCA349933864DNAH7c.10772A>G (p.Glu3591Gly)
c.221A>G (p.Glu74Gly)
c.10652A>G (p.Glu3551Gly)
c.10634A>G (p.Glu3545Gly)
c.10547A>G (p.Glu3516Gly)
c.6416A>G (p.Glu2139Gly)
c.5144A>G (p.Glu1715Gly)
c.10499A>G (p.Glu3500Gly)
2g.195787116T>GCA349933863DNAH7c.10772A>C (p.Glu3591Ala)
c.221A>C (p.Glu74Ala)
c.10652A>C (p.Glu3551Ala)
c.10634A>C (p.Glu3545Ala)
c.10547A>C (p.Glu3516Ala)
c.6416A>C (p.Glu2139Ala)
c.5144A>C (p.Glu1715Ala)
c.10499A>C (p.Glu3500Ala)
gnomAD v4
2g.195787117C>ACA349933865DNAH7c.10771G>T (p.Glu3591Ter)
c.220G>T (p.Glu74Ter)
c.10651G>T (p.Glu3551Ter)
c.10633G>T (p.Glu3545Ter)
c.10546G>T (p.Glu3516Ter)
c.6415G>T (p.Glu2139Ter)
c.5143G>T (p.Glu1715Ter)
c.10498G>T (p.Glu3500Ter)
2g.195787117C>GCA349933866DNAH7c.10771G>C (p.Glu3591Gln)
c.220G>C (p.Glu74Gln)
c.10651G>C (p.Glu3551Gln)
c.10633G>C (p.Glu3545Gln)
c.10546G>C (p.Glu3516Gln)
c.6415G>C (p.Glu2139Gln)
c.5143G>C (p.Glu1715Gln)
c.10498G>C (p.Glu3500Gln)
2g.195787117C>TCA349933867DNAH7c.10771G>A (p.Glu3591Lys)
c.220G>A (p.Glu74Lys)
c.10651G>A (p.Glu3551Lys)
c.10633G>A (p.Glu3545Lys)
c.10546G>A (p.Glu3516Lys)
c.6415G>A (p.Glu2139Lys)
c.5143G>A (p.Glu1715Lys)
c.10498G>A (p.Glu3500Lys)
gnomAD v4
2g.195787118T>ACA349933868DNAH7c.10770A>T (p.Gln3590His)
c.219A>T (p.Gln73His)
c.10650A>T (p.Gln3550His)
c.10632A>T (p.Gln3544His)
c.10545A>T (p.Gln3515His)
c.6414A>T (p.Gln2138His)
c.5142A>T (p.Gln1714His)
c.10497A>T (p.Gln3499His)
2g.195787118T>CCA430537036DNAH7c.10770A>G (p.Gln3590=)
c.219A>G (p.Gln73=)
c.10650A>G (p.Gln3550=)
c.10632A>G (p.Gln3544=)
c.10545A>G (p.Gln3515=)
c.6414A>G (p.Gln2138=)
c.5142A>G (p.Gln1714=)
c.10497A>G (p.Gln3499=)
gnomAD v4
2g.195787118T>GCA349933869DNAH7c.10770A>C (p.Gln3590His)
c.219A>C (p.Gln73His)
c.10650A>C (p.Gln3550His)
c.10632A>C (p.Gln3544His)
c.10545A>C (p.Gln3515His)
c.6414A>C (p.Gln2138His)
c.5142A>C (p.Gln1714His)
c.10497A>C (p.Gln3499His)
2g.195787119T>ACA349933870DNAH7c.10769A>T (p.Gln3590Leu)
c.218A>T (p.Gln73Leu)
c.10649A>T (p.Gln3550Leu)
c.10631A>T (p.Gln3544Leu)
c.10544A>T (p.Gln3515Leu)
c.6413A>T (p.Gln2138Leu)
c.5141A>T (p.Gln1714Leu)
c.10496A>T (p.Gln3499Leu)
2g.195787119T>CCA349933871DNAH7c.10769A>G (p.Gln3590Arg)
c.218A>G (p.Gln73Arg)
c.10649A>G (p.Gln3550Arg)
c.10631A>G (p.Gln3544Arg)
c.10544A>G (p.Gln3515Arg)
c.6413A>G (p.Gln2138Arg)
c.5141A>G (p.Gln1714Arg)
c.10496A>G (p.Gln3499Arg)
dbSNP gnomAD v4
2g.195787119T>GCA349933872DNAH7c.10769A>C (p.Gln3590Pro)
c.218A>C (p.Gln73Pro)
c.10649A>C (p.Gln3550Pro)
c.10631A>C (p.Gln3544Pro)
c.10544A>C (p.Gln3515Pro)
c.6413A>C (p.Gln2138Pro)
c.5141A>C (p.Gln1714Pro)
c.10496A>C (p.Gln3499Pro)
2g.195787119T=CA1318502026DNAH7c.10769A= (p.Gln3590=)
c.218A= (p.Gln73=)
c.10649A= (p.Gln3550=)
c.10631A= (p.Gln3544=)
c.10544A= (p.Gln3515=)
c.6413A= (p.Gln2138=)
c.5141A= (p.Gln1714=)
c.10496A= (p.Gln3499=)
2g.195787120G>ACA349933873DNAH7c.10768C>T (p.Gln3590Ter)
c.217C>T (p.Gln73Ter)
c.10648C>T (p.Gln3550Ter)
c.10630C>T (p.Gln3544Ter)
c.10543C>T (p.Gln3515Ter)
c.6412C>T (p.Gln2138Ter)
c.5140C>T (p.Gln1714Ter)
c.10495C>T (p.Gln3499Ter)
dbSNP gnomAD v3 gnomAD v4
2g.195787120G>CCA349933874DNAH7c.10768C>G (p.Gln3590Glu)
c.217C>G (p.Gln73Glu)
c.10648C>G (p.Gln3550Glu)
c.10630C>G (p.Gln3544Glu)
c.10543C>G (p.Gln3515Glu)
c.6412C>G (p.Gln2138Glu)
c.5140C>G (p.Gln1714Glu)
c.10495C>G (p.Gln3499Glu)
2g.195787120G>TCA349933875DNAH7c.10768C>A (p.Gln3590Lys)
c.217C>A (p.Gln73Lys)
c.10648C>A (p.Gln3550Lys)
c.10630C>A (p.Gln3544Lys)
c.10543C>A (p.Gln3515Lys)
c.6412C>A (p.Gln2138Lys)
c.5140C>A (p.Gln1714Lys)
c.10495C>A (p.Gln3499Lys)
2g.195787121T>ACA62726851DNAH7c.10767A>T (p.Val3589=)
c.216A>T (p.Val72=)
c.10647A>T (p.Val3549=)
c.10629A>T (p.Val3543=)
c.10542A>T (p.Val3514=)
c.6411A>T (p.Val2137=)
c.5139A>T (p.Val1713=)
c.10494A>T (p.Val3498=)
dbSNP gnomAD v3 gnomAD v4
2g.195787121T>CCA430537048DNAH7c.10767A>G (p.Val3589=)
c.216A>G (p.Val72=)
c.10647A>G (p.Val3549=)
c.10629A>G (p.Val3543=)
c.10542A>G (p.Val3514=)
c.6411A>G (p.Val2137=)
c.5139A>G (p.Val1713=)
c.10494A>G (p.Val3498=)
gnomAD v4
2g.195787121T>GCA430537045DNAH7c.10767A>C (p.Val3589=)
c.216A>C (p.Val72=)
c.10647A>C (p.Val3549=)
c.10629A>C (p.Val3543=)
c.10542A>C (p.Val3514=)
c.6411A>C (p.Val2137=)
c.5139A>C (p.Val1713=)
c.10494A>C (p.Val3498=)
2g.195787121T=CA1318502033DNAH7c.10767A= (p.Val3589=)
c.216A= (p.Val72=)
c.10647A= (p.Val3549=)
c.10629A= (p.Val3543=)
c.10542A= (p.Val3514=)
c.6411A= (p.Val2137=)
c.5139A= (p.Val1713=)
c.10494A= (p.Val3498=)
2g.195787122A=CA1318502038DNAH7c.10766T= (p.Val3589=)
c.215T= (p.Val72=)
c.10646T= (p.Val3549=)
c.10628T= (p.Val3543=)
c.10541T= (p.Val3514=)
c.6410T= (p.Val2137=)
c.5138T= (p.Val1713=)
c.10493T= (p.Val3498=)
2g.195787122A>CCA349933878DNAH7c.10766T>G (p.Val3589Gly)
c.215T>G (p.Val72Gly)
c.10646T>G (p.Val3549Gly)
c.10628T>G (p.Val3543Gly)
c.10541T>G (p.Val3514Gly)
c.6410T>G (p.Val2137Gly)
c.5138T>G (p.Val1713Gly)
c.10493T>G (p.Val3498Gly)
2g.195787122A>GCA349933876DNAH7c.10766T>C (p.Val3589Ala)
c.215T>C (p.Val72Ala)
c.10646T>C (p.Val3549Ala)
c.10628T>C (p.Val3543Ala)
c.10541T>C (p.Val3514Ala)
c.6410T>C (p.Val2137Ala)
c.5138T>C (p.Val1713Ala)
c.10493T>C (p.Val3498Ala)
2g.195787122A>TCA349933877DNAH7c.10766T>A (p.Val3589Glu)
c.215T>A (p.Val72Glu)
c.10646T>A (p.Val3549Glu)
c.10628T>A (p.Val3543Glu)
c.10541T>A (p.Val3514Glu)
c.6410T>A (p.Val2137Glu)
c.5138T>A (p.Val1713Glu)
c.10493T>A (p.Val3498Glu)
dbSNP gnomAD v3 gnomAD v4
2g.195787122dupCA2662432929DNAH7c.10766dup (p.Gln3590ThrfsTer16)
c.215dup (p.Gln73ThrfsTer16)
c.10646dup (p.Gln3550ThrfsTer16)
c.10628dup (p.Gln3544ThrfsTer16)
c.10541dup (p.Gln3515ThrfsTer16)
c.6410dup (p.Gln2138ThrfsTer16)
c.5138dup (p.Gln1714ThrfsTer16)
c.10493dup (p.Gln3499ThrfsTer16)
gnomAD v4
2g.195787123C>ACA349933879DNAH7c.10765G>T (p.Val3589Leu)
c.214G>T (p.Val72Leu)
c.10645G>T (p.Val3549Leu)
c.10627G>T (p.Val3543Leu)
c.10540G>T (p.Val3514Leu)
c.6409G>T (p.Val2137Leu)
c.5137G>T (p.Val1713Leu)
c.10492G>T (p.Val3498Leu)
2g.195787123C=CA1318502046DNAH7c.10765G= (p.Val3589=)
c.214G= (p.Val72=)
c.10645G= (p.Val3549=)
c.10627G= (p.Val3543=)
c.10540G= (p.Val3514=)
c.6409G= (p.Val2137=)
c.5137G= (p.Val1713=)
c.10492G= (p.Val3498=)
2g.195787123C>GCA62726859DNAH7c.10765G>C (p.Val3589Leu)
c.214G>C (p.Val72Leu)
c.10645G>C (p.Val3549Leu)
c.10627G>C (p.Val3543Leu)
c.10540G>C (p.Val3514Leu)
c.6409G>C (p.Val2137Leu)
c.5137G>C (p.Val1713Leu)
c.10492G>C (p.Val3498Leu)
dbSNP gnomAD v3 gnomAD v4
2g.195787123C>TCA349933880DNAH7c.10765G>A (p.Val3589Ile)
c.214G>A (p.Val72Ile)
c.10645G>A (p.Val3549Ile)
c.10627G>A (p.Val3543Ile)
c.10540G>A (p.Val3514Ile)
c.6409G>A (p.Val2137Ile)
c.5137G>A (p.Val1713Ile)
c.10492G>A (p.Val3498Ile)
COSMIC
2g.195787124C>ACA349933881DNAH7c.10764G>T (p.Leu3588Phe)
c.213G>T (p.Leu71Phe)
c.10644G>T (p.Leu3548Phe)
c.10626G>T (p.Leu3542Phe)
c.10539G>T (p.Leu3513Phe)
c.6408G>T (p.Leu2136Phe)
c.5136G>T (p.Leu1712Phe)
c.10491G>T (p.Leu3497Phe)
2g.195787124C=CA1318502055DNAH7c.10764G= (p.Leu3588=)
c.213G= (p.Leu71=)
c.10644G= (p.Leu3548=)
c.10626G= (p.Leu3542=)
c.10539G= (p.Leu3513=)
c.6408G= (p.Leu2136=)
c.5136G= (p.Leu1712=)
c.10491G= (p.Leu3497=)
2g.195787124C>GCA349933882DNAH7c.10764G>C (p.Leu3588Phe)
c.213G>C (p.Leu71Phe)
c.10644G>C (p.Leu3548Phe)
c.10626G>C (p.Leu3542Phe)
c.10539G>C (p.Leu3513Phe)
c.6408G>C (p.Leu2136Phe)
c.5136G>C (p.Leu1712Phe)
c.10491G>C (p.Leu3497Phe)
2g.195787124C>TCA62726860DNAH7c.10764G>A (p.Leu3588=)
c.213G>A (p.Leu71=)
c.10644G>A (p.Leu3548=)
c.10626G>A (p.Leu3542=)
c.10539G>A (p.Leu3513=)
c.6408G>A (p.Leu2136=)
c.5136G>A (p.Leu1712=)
c.10491G>A (p.Leu3497=)
dbSNP COSMIC
2g.195787125A=CA1318502057DNAH7c.10763T= (p.Leu3588=)
c.212T= (p.Leu71=)
c.10643T= (p.Leu3548=)
c.10625T= (p.Leu3542=)
c.10538T= (p.Leu3513=)
c.6407T= (p.Leu2136=)
c.5135T= (p.Leu1712=)
c.10490T= (p.Leu3497=)
2g.195787125A>CCA349933883DNAH7c.10763T>G (p.Leu3588Trp)
c.212T>G (p.Leu71Trp)
c.10643T>G (p.Leu3548Trp)
c.10625T>G (p.Leu3542Trp)
c.10538T>G (p.Leu3513Trp)
c.6407T>G (p.Leu2136Trp)
c.5135T>G (p.Leu1712Trp)
c.10490T>G (p.Leu3497Trp)
2g.195787125A>GCA2033950DNAH7c.10763T>C (p.Leu3588Ser)
c.212T>C (p.Leu71Ser)
c.10643T>C (p.Leu3548Ser)
c.10625T>C (p.Leu3542Ser)
c.10538T>C (p.Leu3513Ser)
c.6407T>C (p.Leu2136Ser)
c.5135T>C (p.Leu1712Ser)
c.10490T>C (p.Leu3497Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787125A>TCA349933884DNAH7c.10763T>A (p.Leu3588Ter)
c.212T>A (p.Leu71Ter)
c.10643T>A (p.Leu3548Ter)
c.10625T>A (p.Leu3542Ter)
c.10538T>A (p.Leu3513Ter)
c.6407T>A (p.Leu2136Ter)
c.5135T>A (p.Leu1712Ter)
c.10490T>A (p.Leu3497Ter)
2g.195787126A>CCA349933885DNAH7c.10762T>G (p.Leu3588Val)
c.211T>G (p.Leu71Val)
c.10642T>G (p.Leu3548Val)
c.10624T>G (p.Leu3542Val)
c.10537T>G (p.Leu3513Val)
c.6406T>G (p.Leu2136Val)
c.5134T>G (p.Leu1712Val)
c.10489T>G (p.Leu3497Val)
2g.195787126A>GCA430537066DNAH7c.10762T>C (p.Leu3588=)
c.211T>C (p.Leu71=)
c.10642T>C (p.Leu3548=)
c.10624T>C (p.Leu3542=)
c.10537T>C (p.Leu3513=)
c.6406T>C (p.Leu2136=)
c.5134T>C (p.Leu1712=)
c.10489T>C (p.Leu3497=)
2g.195787126A>TCA349933886DNAH7c.10762T>A (p.Leu3588Met)
c.211T>A (p.Leu71Met)
c.10642T>A (p.Leu3548Met)
c.10624T>A (p.Leu3542Met)
c.10537T>A (p.Leu3513Met)
c.6406T>A (p.Leu2136Met)
c.5134T>A (p.Leu1712Met)
c.10489T>A (p.Leu3497Met)
2g.195787127A>CCA430537069DNAH7c.10761T>G (p.Ala3587=)
c.210T>G (p.Ala70=)
c.10641T>G (p.Ala3547=)
c.10623T>G (p.Ala3541=)
c.10536T>G (p.Ala3512=)
c.6405T>G (p.Ala2135=)
c.5133T>G (p.Ala1711=)
c.10488T>G (p.Ala3496=)
gnomAD v4
2g.195787127A>GCA430537073DNAH7c.10761T>C (p.Ala3587=)
c.210T>C (p.Ala70=)
c.10641T>C (p.Ala3547=)
c.10623T>C (p.Ala3541=)
c.10536T>C (p.Ala3512=)
c.6405T>C (p.Ala2135=)
c.5133T>C (p.Ala1711=)
c.10488T>C (p.Ala3496=)
2g.195787127A>TCA430537071DNAH7c.10761T>A (p.Ala3587=)
c.210T>A (p.Ala70=)
c.10641T>A (p.Ala3547=)
c.10623T>A (p.Ala3541=)
c.10536T>A (p.Ala3512=)
c.6405T>A (p.Ala2135=)
c.5133T>A (p.Ala1711=)
c.10488T>A (p.Ala3496=)
2g.195787128G>ACA349933888DNAH7c.10760C>T (p.Ala3587Val)
c.209C>T (p.Ala70Val)
c.10640C>T (p.Ala3547Val)
c.10622C>T (p.Ala3541Val)
c.10535C>T (p.Ala3512Val)
c.6404C>T (p.Ala2135Val)
c.5132C>T (p.Ala1711Val)
c.10487C>T (p.Ala3496Val)
gnomAD v4 COSMIC
2g.195787128G>CCA2033951DNAH7c.10760C>G (p.Ala3587Gly)
c.209C>G (p.Ala70Gly)
c.10640C>G (p.Ala3547Gly)
c.10622C>G (p.Ala3541Gly)
c.10535C>G (p.Ala3512Gly)
c.6404C>G (p.Ala2135Gly)
c.5132C>G (p.Ala1711Gly)
c.10487C>G (p.Ala3496Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787128G=CA1318502066DNAH7c.10760C= (p.Ala3587=)
c.209C= (p.Ala70=)
c.10640C= (p.Ala3547=)
c.10622C= (p.Ala3541=)
c.10535C= (p.Ala3512=)
c.6404C= (p.Ala2135=)
c.5132C= (p.Ala1711=)
c.10487C= (p.Ala3496=)
2g.195787128G>TCA349933887DNAH7c.10760C>A (p.Ala3587Asp)
c.209C>A (p.Ala70Asp)
c.10640C>A (p.Ala3547Asp)
c.10622C>A (p.Ala3541Asp)
c.10535C>A (p.Ala3512Asp)
c.6404C>A (p.Ala2135Asp)
c.5132C>A (p.Ala1711Asp)
c.10487C>A (p.Ala3496Asp)
2g.195787129C>ACA349933889DNAH7c.10759G>T (p.Ala3587Ser)
c.208G>T (p.Ala70Ser)
c.10639G>T (p.Ala3547Ser)
c.10621G>T (p.Ala3541Ser)
c.10534G>T (p.Ala3512Ser)
c.6403G>T (p.Ala2135Ser)
c.5131G>T (p.Ala1711Ser)
c.10486G>T (p.Ala3496Ser)
2g.195787129C=CA1318502072DNAH7c.10759G= (p.Ala3587=)
c.208G= (p.Ala70=)
c.10639G= (p.Ala3547=)
c.10621G= (p.Ala3541=)
c.10534G= (p.Ala3512=)
c.6403G= (p.Ala2135=)
c.5131G= (p.Ala1711=)
c.10486G= (p.Ala3496=)
2g.195787129C>GCA349933890DNAH7c.10759G>C (p.Ala3587Pro)
c.208G>C (p.Ala70Pro)
c.10639G>C (p.Ala3547Pro)
c.10621G>C (p.Ala3541Pro)
c.10534G>C (p.Ala3512Pro)
c.6403G>C (p.Ala2135Pro)
c.5131G>C (p.Ala1711Pro)
c.10486G>C (p.Ala3496Pro)
2g.195787129C>TCA349933891DNAH7c.10759G>A (p.Ala3587Thr)
c.208G>A (p.Ala70Thr)
c.10639G>A (p.Ala3547Thr)
c.10621G>A (p.Ala3541Thr)
c.10534G>A (p.Ala3512Thr)
c.6403G>A (p.Ala2135Thr)
c.5131G>A (p.Ala1711Thr)
c.10486G>A (p.Ala3496Thr)
dbSNP
2g.195787130A=CA1318502079DNAH7c.10758T= (p.His3586=)
c.207T= (p.His69=)
c.10638T= (p.His3546=)
c.10620T= (p.His3540=)
c.10533T= (p.His3511=)
c.6402T= (p.His2134=)
c.5130T= (p.His1710=)
c.10485T= (p.His3495=)
2g.195787130A>CCA349933892DNAH7c.10758T>G (p.His3586Gln)
c.207T>G (p.His69Gln)
c.10638T>G (p.His3546Gln)
c.10620T>G (p.His3540Gln)
c.10533T>G (p.His3511Gln)
c.6402T>G (p.His2134Gln)
c.5130T>G (p.His1710Gln)
c.10485T>G (p.His3495Gln)
2g.195787130A>GCA430537083DNAH7c.10758T>C (p.His3586=)
c.207T>C (p.His69=)
c.10638T>C (p.His3546=)
c.10620T>C (p.His3540=)
c.10533T>C (p.His3511=)
c.6402T>C (p.His2134=)
c.5130T>C (p.His1710=)
c.10485T>C (p.His3495=)
dbSNP gnomAD v2 gnomAD v4
2g.195787130A>TCA349933893DNAH7c.10758T>A (p.His3586Gln)
c.207T>A (p.His69Gln)
c.10638T>A (p.His3546Gln)
c.10620T>A (p.His3540Gln)
c.10533T>A (p.His3511Gln)
c.6402T>A (p.His2134Gln)
c.5130T>A (p.His1710Gln)
c.10485T>A (p.His3495Gln)
2g.195787131T>ACA349933896DNAH7c.10757A>T (p.His3586Leu)
c.206A>T (p.His69Leu)
c.10637A>T (p.His3546Leu)
c.10619A>T (p.His3540Leu)
c.10532A>T (p.His3511Leu)
c.6401A>T (p.His2134Leu)
c.5129A>T (p.His1710Leu)
c.10484A>T (p.His3495Leu)
2g.195787131T>CCA349933894DNAH7c.10757A>G (p.His3586Arg)
c.206A>G (p.His69Arg)
c.10637A>G (p.His3546Arg)
c.10619A>G (p.His3540Arg)
c.10532A>G (p.His3511Arg)
c.6401A>G (p.His2134Arg)
c.5129A>G (p.His1710Arg)
c.10484A>G (p.His3495Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787131T>GCA349933895DNAH7c.10757A>C (p.His3586Pro)
c.206A>C (p.His69Pro)
c.10637A>C (p.His3546Pro)
c.10619A>C (p.His3540Pro)
c.10532A>C (p.His3511Pro)
c.6401A>C (p.His2134Pro)
c.5129A>C (p.His1710Pro)
c.10484A>C (p.His3495Pro)
2g.195787131T=CA1318502088DNAH7c.10757A= (p.His3586=)
c.206A= (p.His69=)
c.10637A= (p.His3546=)
c.10619A= (p.His3540=)
c.10532A= (p.His3511=)
c.6401A= (p.His2134=)
c.5129A= (p.His1710=)
c.10484A= (p.His3495=)
2g.195787132G>ACA349933897DNAH7c.10756C>T (p.His3586Tyr)
c.205C>T (p.His69Tyr)
c.10636C>T (p.His3546Tyr)
c.10618C>T (p.His3540Tyr)
c.10531C>T (p.His3511Tyr)
c.6400C>T (p.His2134Tyr)
c.5128C>T (p.His1710Tyr)
c.10483C>T (p.His3495Tyr)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.195787132G>CCA349933898DNAH7c.10756C>G (p.His3586Asp)
c.205C>G (p.His69Asp)
c.10636C>G (p.His3546Asp)
c.10618C>G (p.His3540Asp)
c.10531C>G (p.His3511Asp)
c.6400C>G (p.His2134Asp)
c.5128C>G (p.His1710Asp)
c.10483C>G (p.His3495Asp)
2g.195787132G=CA1318502103DNAH7c.10756C= (p.His3586=)
c.205C= (p.His69=)
c.10636C= (p.His3546=)
c.10618C= (p.His3540=)
c.10531C= (p.His3511=)
c.6400C= (p.His2134=)
c.5128C= (p.His1710=)
c.10483C= (p.His3495=)
2g.195787132G>TCA349933899DNAH7c.10756C>A (p.His3586Asn)
c.205C>A (p.His69Asn)
c.10636C>A (p.His3546Asn)
c.10618C>A (p.His3540Asn)
c.10531C>A (p.His3511Asn)
c.6400C>A (p.His2134Asn)
c.5128C>A (p.His1710Asn)
c.10483C>A (p.His3495Asn)
2g.195787133A>CCA349933900DNAH7c.10755T>G (p.Phe3585Leu)
c.204T>G (p.Phe68Leu)
c.10635T>G (p.Phe3545Leu)
c.10617T>G (p.Phe3539Leu)
c.10530T>G (p.Phe3510Leu)
c.6399T>G (p.Phe2133Leu)
c.5127T>G (p.Phe1709Leu)
c.10482T>G (p.Phe3494Leu)
2g.195787133A>GCA430537094DNAH7c.10755T>C (p.Phe3585=)
c.204T>C (p.Phe68=)
c.10635T>C (p.Phe3545=)
c.10617T>C (p.Phe3539=)
c.10530T>C (p.Phe3510=)
c.6399T>C (p.Phe2133=)
c.5127T>C (p.Phe1709=)
c.10482T>C (p.Phe3494=)
2g.195787133A>TCA349933901DNAH7c.10755T>A (p.Phe3585Leu)
c.204T>A (p.Phe68Leu)
c.10635T>A (p.Phe3545Leu)
c.10617T>A (p.Phe3539Leu)
c.10530T>A (p.Phe3510Leu)
c.6399T>A (p.Phe2133Leu)
c.5127T>A (p.Phe1709Leu)
c.10482T>A (p.Phe3494Leu)
2g.195787134A>CCA349933902DNAH7c.10754T>G (p.Phe3585Cys)
c.203T>G (p.Phe68Cys)
c.10634T>G (p.Phe3545Cys)
c.10616T>G (p.Phe3539Cys)
c.10529T>G (p.Phe3510Cys)
c.6398T>G (p.Phe2133Cys)
c.5126T>G (p.Phe1709Cys)
c.10481T>G (p.Phe3494Cys)
gnomAD v4
2g.195787134A>GCA349933904DNAH7c.10754T>C (p.Phe3585Ser)
c.203T>C (p.Phe68Ser)
c.10634T>C (p.Phe3545Ser)
c.10616T>C (p.Phe3539Ser)
c.10529T>C (p.Phe3510Ser)
c.6398T>C (p.Phe2133Ser)
c.5126T>C (p.Phe1709Ser)
c.10481T>C (p.Phe3494Ser)
2g.195787134A>TCA349933903DNAH7c.10754T>A (p.Phe3585Tyr)
c.203T>A (p.Phe68Tyr)
c.10634T>A (p.Phe3545Tyr)
c.10616T>A (p.Phe3539Tyr)
c.10529T>A (p.Phe3510Tyr)
c.6398T>A (p.Phe2133Tyr)
c.5126T>A (p.Phe1709Tyr)
c.10481T>A (p.Phe3494Tyr)
2g.195787135A=CA1318502115DNAH7c.10753T= (p.Phe3585=)
c.202T= (p.Phe68=)
c.10633T= (p.Phe3545=)
c.10615T= (p.Phe3539=)
c.10528T= (p.Phe3510=)
c.6397T= (p.Phe2133=)
c.5125T= (p.Phe1709=)
c.10480T= (p.Phe3494=)
2g.195787135A>CCA349933905DNAH7c.10753T>G (p.Phe3585Val)
c.202T>G (p.Phe68Val)
c.10633T>G (p.Phe3545Val)
c.10615T>G (p.Phe3539Val)
c.10528T>G (p.Phe3510Val)
c.6397T>G (p.Phe2133Val)
c.5125T>G (p.Phe1709Val)
c.10480T>G (p.Phe3494Val)
2g.195787135A>GCA16044214DNAH7c.10753T>C (p.Phe3585Leu)
c.202T>C (p.Phe68Leu)
c.10633T>C (p.Phe3545Leu)
c.10615T>C (p.Phe3539Leu)
c.10528T>C (p.Phe3510Leu)
c.6397T>C (p.Phe2133Leu)
c.5125T>C (p.Phe1709Leu)
c.10480T>C (p.Phe3494Leu)
ClinVar dbSNP
2g.195787135A>TCA349933906DNAH7c.10753T>A (p.Phe3585Ile)
c.202T>A (p.Phe68Ile)
c.10633T>A (p.Phe3545Ile)
c.10615T>A (p.Phe3539Ile)
c.10528T>A (p.Phe3510Ile)
c.6397T>A (p.Phe2133Ile)
c.5125T>A (p.Phe1709Ile)
c.10480T>A (p.Phe3494Ile)
2g.195787136G>ACA430537105DNAH7c.10752C>T (p.Phe3584=)
c.201C>T (p.Phe67=)
c.10632C>T (p.Phe3544=)
c.10614C>T (p.Phe3538=)
c.10527C>T (p.Phe3509=)
c.6396C>T (p.Phe2132=)
c.5124C>T (p.Phe1708=)
c.10479C>T (p.Phe3493=)
COSMIC
2g.195787136G>CCA349933907DNAH7c.10752C>G (p.Phe3584Leu)
c.201C>G (p.Phe67Leu)
c.10632C>G (p.Phe3544Leu)
c.10614C>G (p.Phe3538Leu)
c.10527C>G (p.Phe3509Leu)
c.6396C>G (p.Phe2132Leu)
c.5124C>G (p.Phe1708Leu)
c.10479C>G (p.Phe3493Leu)
2g.195787136G>TCA349933908DNAH7c.10752C>A (p.Phe3584Leu)
c.201C>A (p.Phe67Leu)
c.10632C>A (p.Phe3544Leu)
c.10614C>A (p.Phe3538Leu)
c.10527C>A (p.Phe3509Leu)
c.6396C>A (p.Phe2132Leu)
c.5124C>A (p.Phe1708Leu)
c.10479C>A (p.Phe3493Leu)
2g.195787137A>CCA349933909DNAH7c.10751T>G (p.Phe3584Cys)
c.200T>G (p.Phe67Cys)
c.10631T>G (p.Phe3544Cys)
c.10613T>G (p.Phe3538Cys)
c.10526T>G (p.Phe3509Cys)
c.6395T>G (p.Phe2132Cys)
c.5123T>G (p.Phe1708Cys)
c.10478T>G (p.Phe3493Cys)
2g.195787137A>GCA349933910DNAH7c.10751T>C (p.Phe3584Ser)
c.200T>C (p.Phe67Ser)
c.10631T>C (p.Phe3544Ser)
c.10613T>C (p.Phe3538Ser)
c.10526T>C (p.Phe3509Ser)
c.6395T>C (p.Phe2132Ser)
c.5123T>C (p.Phe1708Ser)
c.10478T>C (p.Phe3493Ser)
2g.195787137A>TCA349933911DNAH7c.10751T>A (p.Phe3584Tyr)
c.200T>A (p.Phe67Tyr)
c.10631T>A (p.Phe3544Tyr)
c.10613T>A (p.Phe3538Tyr)
c.10526T>A (p.Phe3509Tyr)
c.6395T>A (p.Phe2132Tyr)
c.5123T>A (p.Phe1708Tyr)
c.10478T>A (p.Phe3493Tyr)
2g.195787138A>CCA349933912DNAH7c.10750T>G (p.Phe3584Val)
c.199T>G (p.Phe67Val)
c.10630T>G (p.Phe3544Val)
c.10612T>G (p.Phe3538Val)
c.10525T>G (p.Phe3509Val)
c.6394T>G (p.Phe2132Val)
c.5122T>G (p.Phe1708Val)
c.10477T>G (p.Phe3493Val)
2g.195787138A>GCA349933913DNAH7c.10750T>C (p.Phe3584Leu)
c.199T>C (p.Phe67Leu)
c.10630T>C (p.Phe3544Leu)
c.10612T>C (p.Phe3538Leu)
c.10525T>C (p.Phe3509Leu)
c.6394T>C (p.Phe2132Leu)
c.5122T>C (p.Phe1708Leu)
c.10477T>C (p.Phe3493Leu)
2g.195787138A>TCA349933914DNAH7c.10750T>A (p.Phe3584Ile)
c.199T>A (p.Phe67Ile)
c.10630T>A (p.Phe3544Ile)
c.10612T>A (p.Phe3538Ile)
c.10525T>A (p.Phe3509Ile)
c.6394T>A (p.Phe2132Ile)
c.5122T>A (p.Phe1708Ile)
c.10477T>A (p.Phe3493Ile)
2g.195787139A>CCA349933915DNAH7c.10749T>G (p.Cys3583Trp)
c.198T>G (p.Cys66Trp)
c.10629T>G (p.Cys3543Trp)
c.10611T>G (p.Cys3537Trp)
c.10524T>G (p.Cys3508Trp)
c.6393T>G (p.Cys2131Trp)
c.5121T>G (p.Cys1707Trp)
c.10476T>G (p.Cys3492Trp)
2g.195787139A>GCA430537408DNAH7c.10749T>C (p.Cys3583=)
c.198T>C (p.Cys66=)
c.10629T>C (p.Cys3543=)
c.10611T>C (p.Cys3537=)
c.10524T>C (p.Cys3508=)
c.6393T>C (p.Cys2131=)
c.5121T>C (p.Cys1707=)
c.10476T>C (p.Cys3492=)
2g.195787139A>TCA349933917DNAH7c.10749T>A (p.Cys3583Ter)
c.198T>A (p.Cys66Ter)
c.10629T>A (p.Cys3543Ter)
c.10611T>A (p.Cys3537Ter)
c.10524T>A (p.Cys3508Ter)
c.6393T>A (p.Cys2131Ter)
c.5121T>A (p.Cys1707Ter)
c.10476T>A (p.Cys3492Ter)
2g.195787140C>ACA349933918DNAH7c.10748G>T (p.Cys3583Phe)
c.197G>T (p.Cys66Phe)
c.10628G>T (p.Cys3543Phe)
c.10610G>T (p.Cys3537Phe)
c.10523G>T (p.Cys3508Phe)
c.6392G>T (p.Cys2131Phe)
c.5120G>T (p.Cys1707Phe)
c.10475G>T (p.Cys3492Phe)
2g.195787140C>GCA349933919DNAH7c.10748G>C (p.Cys3583Ser)
c.197G>C (p.Cys66Ser)
c.10628G>C (p.Cys3543Ser)
c.10610G>C (p.Cys3537Ser)
c.10523G>C (p.Cys3508Ser)
c.6392G>C (p.Cys2131Ser)
c.5120G>C (p.Cys1707Ser)
c.10475G>C (p.Cys3492Ser)
2g.195787140C>TCA349933920DNAH7c.10748G>A (p.Cys3583Tyr)
c.197G>A (p.Cys66Tyr)
c.10628G>A (p.Cys3543Tyr)
c.10610G>A (p.Cys3537Tyr)
c.10523G>A (p.Cys3508Tyr)
c.6392G>A (p.Cys2131Tyr)
c.5120G>A (p.Cys1707Tyr)
c.10475G>A (p.Cys3492Tyr)
2g.195787140dupCA2662432930DNAH7c.10748dup (p.Cys3583TrpfsTer23)
c.197dup (p.Cys66TrpfsTer23)
c.10628dup (p.Cys3543TrpfsTer23)
c.10610dup (p.Cys3537TrpfsTer23)
c.10523dup (p.Cys3508TrpfsTer23)
c.6392dup (p.Cys2131TrpfsTer23)
c.5120dup (p.Cys1707TrpfsTer23)
c.10475dup (p.Cys3492TrpfsTer23)
gnomAD v4
2g.195787141A>CCA349933921DNAH7c.10747T>G (p.Cys3583Gly)
c.196T>G (p.Cys66Gly)
c.10627T>G (p.Cys3543Gly)
c.10609T>G (p.Cys3537Gly)
c.10522T>G (p.Cys3508Gly)
c.6391T>G (p.Cys2131Gly)
c.5119T>G (p.Cys1707Gly)
c.10474T>G (p.Cys3492Gly)
2g.195787141A>GCA349933923DNAH7c.10747T>C (p.Cys3583Arg)
c.196T>C (p.Cys66Arg)
c.10627T>C (p.Cys3543Arg)
c.10609T>C (p.Cys3537Arg)
c.10522T>C (p.Cys3508Arg)
c.6391T>C (p.Cys2131Arg)
c.5119T>C (p.Cys1707Arg)
c.10474T>C (p.Cys3492Arg)
2g.195787141A>TCA349933922DNAH7c.10747T>A (p.Cys3583Ser)
c.196T>A (p.Cys66Ser)
c.10627T>A (p.Cys3543Ser)
c.10609T>A (p.Cys3537Ser)
c.10522T>A (p.Cys3508Ser)
c.6391T>A (p.Cys2131Ser)
c.5119T>A (p.Cys1707Ser)
c.10474T>A (p.Cys3492Ser)
2g.195787142C>ACA430537422DNAH7c.10746G>T (p.Leu3582=)
c.195G>T (p.Leu65=)
c.10626G>T (p.Leu3542=)
c.10608G>T (p.Leu3536=)
c.10521G>T (p.Leu3507=)
c.6390G>T (p.Leu2130=)
c.5118G>T (p.Leu1706=)
c.10473G>T (p.Leu3491=)
gnomAD v4
2g.195787142C=CA1318502121DNAH7c.10746G= (p.Leu3582=)
c.195G= (p.Leu65=)
c.10626G= (p.Leu3542=)
c.10608G= (p.Leu3536=)
c.10521G= (p.Leu3507=)
c.6390G= (p.Leu2130=)
c.5118G= (p.Leu1706=)
c.10473G= (p.Leu3491=)
2g.195787142C>GCA430537420DNAH7c.10746G>C (p.Leu3582=)
c.195G>C (p.Leu65=)
c.10626G>C (p.Leu3542=)
c.10608G>C (p.Leu3536=)
c.10521G>C (p.Leu3507=)
c.6390G>C (p.Leu2130=)
c.5118G>C (p.Leu1706=)
c.10473G>C (p.Leu3491=)
2g.195787142C>TCA2033952DNAH7c.10746G>A (p.Leu3582=)
c.195G>A (p.Leu65=)
c.10626G>A (p.Leu3542=)
c.10608G>A (p.Leu3536=)
c.10521G>A (p.Leu3507=)
c.6390G>A (p.Leu2130=)
c.5118G>A (p.Leu1706=)
c.10473G>A (p.Leu3491=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787143A>CCA349933924DNAH7c.10745T>G (p.Leu3582Arg)
c.194T>G (p.Leu65Arg)
c.10625T>G (p.Leu3542Arg)
c.10607T>G (p.Leu3536Arg)
c.10520T>G (p.Leu3507Arg)
c.6389T>G (p.Leu2130Arg)
c.5117T>G (p.Leu1706Arg)
c.10472T>G (p.Leu3491Arg)
2g.195787143A>GCA349933925DNAH7c.10745T>C (p.Leu3582Pro)
c.194T>C (p.Leu65Pro)
c.10625T>C (p.Leu3542Pro)
c.10607T>C (p.Leu3536Pro)
c.10520T>C (p.Leu3507Pro)
c.6389T>C (p.Leu2130Pro)
c.5117T>C (p.Leu1706Pro)
c.10472T>C (p.Leu3491Pro)
gnomAD v4
2g.195787143A>TCA349933926DNAH7c.10745T>A (p.Leu3582Gln)
c.194T>A (p.Leu65Gln)
c.10625T>A (p.Leu3542Gln)
c.10607T>A (p.Leu3536Gln)
c.10520T>A (p.Leu3507Gln)
c.6389T>A (p.Leu2130Gln)
c.5117T>A (p.Leu1706Gln)
c.10472T>A (p.Leu3491Gln)
2g.195787144G>ACA430537427DNAH7c.10744C>T (p.Leu3582=)
c.193C>T (p.Leu65=)
c.10624C>T (p.Leu3542=)
c.10606C>T (p.Leu3536=)
c.10519C>T (p.Leu3507=)
c.6388C>T (p.Leu2130=)
c.5116C>T (p.Leu1706=)
c.10471C>T (p.Leu3491=)
2g.195787144G>CCA349933927DNAH7c.10744C>G (p.Leu3582Val)
c.193C>G (p.Leu65Val)
c.10624C>G (p.Leu3542Val)
c.10606C>G (p.Leu3536Val)
c.10519C>G (p.Leu3507Val)
c.6388C>G (p.Leu2130Val)
c.5116C>G (p.Leu1706Val)
c.10471C>G (p.Leu3491Val)
2g.195787144G>TCA349933928DNAH7c.10744C>A (p.Leu3582Met)
c.193C>A (p.Leu65Met)
c.10624C>A (p.Leu3542Met)
c.10606C>A (p.Leu3536Met)
c.10519C>A (p.Leu3507Met)
c.6388C>A (p.Leu2130Met)
c.5116C>A (p.Leu1706Met)
c.10471C>A (p.Leu3491Met)
2g.195787145G>ACA430537432DNAH7c.10743C>T (p.Gly3581=)
c.192C>T (p.Gly64=)
c.10623C>T (p.Gly3541=)
c.10605C>T (p.Gly3535=)
c.10518C>T (p.Gly3506=)
c.6387C>T (p.Gly2129=)
c.5115C>T (p.Gly1705=)
c.10470C>T (p.Gly3490=)
dbSNP
2g.195787145G>CCA430537433DNAH7c.10743C>G (p.Gly3581=)
c.192C>G (p.Gly64=)
c.10623C>G (p.Gly3541=)
c.10605C>G (p.Gly3535=)
c.10518C>G (p.Gly3506=)
c.6387C>G (p.Gly2129=)
c.5115C>G (p.Gly1705=)
c.10470C>G (p.Gly3490=)
2g.195787145G=CA1318502140DNAH7c.10743C= (p.Gly3581=)
c.192C= (p.Gly64=)
c.10623C= (p.Gly3541=)
c.10605C= (p.Gly3535=)
c.10518C= (p.Gly3506=)
c.6387C= (p.Gly2129=)
c.5115C= (p.Gly1705=)
c.10470C= (p.Gly3490=)
2g.195787145G>TCA430537435DNAH7c.10743C>A (p.Gly3581=)
c.192C>A (p.Gly64=)
c.10623C>A (p.Gly3541=)
c.10605C>A (p.Gly3535=)
c.10518C>A (p.Gly3506=)
c.6387C>A (p.Gly2129=)
c.5115C>A (p.Gly1705=)
c.10470C>A (p.Gly3490=)
2g.195787146C>ACA349933929DNAH7c.10742G>T (p.Gly3581Val)
c.191G>T (p.Gly64Val)
c.10622G>T (p.Gly3541Val)
c.10604G>T (p.Gly3535Val)
c.10517G>T (p.Gly3506Val)
c.6386G>T (p.Gly2129Val)
c.5114G>T (p.Gly1705Val)
c.10469G>T (p.Gly3490Val)
gnomAD v4
2g.195787146C>GCA349933930DNAH7c.10742G>C (p.Gly3581Ala)
c.191G>C (p.Gly64Ala)
c.10622G>C (p.Gly3541Ala)
c.10604G>C (p.Gly3535Ala)
c.10517G>C (p.Gly3506Ala)
c.6386G>C (p.Gly2129Ala)
c.5114G>C (p.Gly1705Ala)
c.10469G>C (p.Gly3490Ala)
2g.195787146C>TCA349933931DNAH7c.10742G>A (p.Gly3581Asp)
c.191G>A (p.Gly64Asp)
c.10622G>A (p.Gly3541Asp)
c.10604G>A (p.Gly3535Asp)
c.10517G>A (p.Gly3506Asp)
c.6386G>A (p.Gly2129Asp)
c.5114G>A (p.Gly1705Asp)
c.10469G>A (p.Gly3490Asp)
gnomAD v4 COSMIC
2g.195787147C>ACA349933933DNAH7c.10741G>T (p.Gly3581Cys)
c.190G>T (p.Gly64Cys)
c.10621G>T (p.Gly3541Cys)
c.10603G>T (p.Gly3535Cys)
c.10516G>T (p.Gly3506Cys)
c.6385G>T (p.Gly2129Cys)
c.5113G>T (p.Gly1705Cys)
c.10468G>T (p.Gly3490Cys)
2g.195787147C=CA1318502143DNAH7c.10741G= (p.Gly3581=)
c.190G= (p.Gly64=)
c.10621G= (p.Gly3541=)
c.10603G= (p.Gly3535=)
c.10516G= (p.Gly3506=)
c.6385G= (p.Gly2129=)
c.5113G= (p.Gly1705=)
c.10468G= (p.Gly3490=)
2g.195787147C>GCA349933932DNAH7c.10741G>C (p.Gly3581Arg)
c.190G>C (p.Gly64Arg)
c.10621G>C (p.Gly3541Arg)
c.10603G>C (p.Gly3535Arg)
c.10516G>C (p.Gly3506Arg)
c.6385G>C (p.Gly2129Arg)
c.5113G>C (p.Gly1705Arg)
c.10468G>C (p.Gly3490Arg)
2g.195787147C>TCA2033953DNAH7c.10741G>A (p.Gly3581Ser)
c.190G>A (p.Gly64Ser)
c.10621G>A (p.Gly3541Ser)
c.10603G>A (p.Gly3535Ser)
c.10516G>A (p.Gly3506Ser)
c.6385G>A (p.Gly2129Ser)
c.5113G>A (p.Gly1705Ser)
c.10468G>A (p.Gly3490Ser)
dbSNP ExAC gnomAD v2
2g.195787148A=CA1318502146DNAH7c.10740T= (p.Tyr3580=)
c.189T= (p.Tyr63=)
c.10620T= (p.Tyr3540=)
c.10602T= (p.Tyr3534=)
c.10515T= (p.Tyr3505=)
c.6384T= (p.Tyr2128=)
c.5112T= (p.Tyr1704=)
c.10467T= (p.Tyr3489=)
2g.195787148A>CCA349933934DNAH7c.10740T>G (p.Tyr3580Ter)
c.189T>G (p.Tyr63Ter)
c.10620T>G (p.Tyr3540Ter)
c.10602T>G (p.Tyr3534Ter)
c.10515T>G (p.Tyr3505Ter)
c.6384T>G (p.Tyr2128Ter)
c.5112T>G (p.Tyr1704Ter)
c.10467T>G (p.Tyr3489Ter)
gnomAD v4
2g.195787148A>GCA2033954DNAH7c.10740T>C (p.Tyr3580=)
c.189T>C (p.Tyr63=)
c.10620T>C (p.Tyr3540=)
c.10602T>C (p.Tyr3534=)
c.10515T>C (p.Tyr3505=)
c.6384T>C (p.Tyr2128=)
c.5112T>C (p.Tyr1704=)
c.10467T>C (p.Tyr3489=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787148A>TCA349933935DNAH7c.10740T>A (p.Tyr3580Ter)
c.189T>A (p.Tyr63Ter)
c.10620T>A (p.Tyr3540Ter)
c.10602T>A (p.Tyr3534Ter)
c.10515T>A (p.Tyr3505Ter)
c.6384T>A (p.Tyr2128Ter)
c.5112T>A (p.Tyr1704Ter)
c.10467T>A (p.Tyr3489Ter)
2g.195787149T>ACA349933936DNAH7c.10739A>T (p.Tyr3580Phe)
c.188A>T (p.Tyr63Phe)
c.10619A>T (p.Tyr3540Phe)
c.10601A>T (p.Tyr3534Phe)
c.10514A>T (p.Tyr3505Phe)
c.6383A>T (p.Tyr2128Phe)
c.5111A>T (p.Tyr1704Phe)
c.10466A>T (p.Tyr3489Phe)
COSMIC
2g.195787149T>CCA2033955DNAH7c.10739A>G (p.Tyr3580Cys)
c.188A>G (p.Tyr63Cys)
c.10619A>G (p.Tyr3540Cys)
c.10601A>G (p.Tyr3534Cys)
c.10514A>G (p.Tyr3505Cys)
c.6383A>G (p.Tyr2128Cys)
c.5111A>G (p.Tyr1704Cys)
c.10466A>G (p.Tyr3489Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787149T>GCA349933937DNAH7c.10739A>C (p.Tyr3580Ser)
c.188A>C (p.Tyr63Ser)
c.10619A>C (p.Tyr3540Ser)
c.10601A>C (p.Tyr3534Ser)
c.10514A>C (p.Tyr3505Ser)
c.6383A>C (p.Tyr2128Ser)
c.5111A>C (p.Tyr1704Ser)
c.10466A>C (p.Tyr3489Ser)
2g.195787149T=CA1318502152DNAH7c.10739A= (p.Tyr3580=)
c.188A= (p.Tyr63=)
c.10619A= (p.Tyr3540=)
c.10601A= (p.Tyr3534=)
c.10514A= (p.Tyr3505=)
c.6383A= (p.Tyr2128=)
c.5111A= (p.Tyr1704=)
c.10466A= (p.Tyr3489=)
2g.195787150A>CCA349933938DNAH7c.10738T>G (p.Tyr3580Asp)
c.187T>G (p.Tyr63Asp)
c.10618T>G (p.Tyr3540Asp)
c.10600T>G (p.Tyr3534Asp)
c.10513T>G (p.Tyr3505Asp)
c.6382T>G (p.Tyr2128Asp)
c.5110T>G (p.Tyr1704Asp)
c.10465T>G (p.Tyr3489Asp)
2g.195787150A>GCA349933939DNAH7c.10738T>C (p.Tyr3580His)
c.187T>C (p.Tyr63His)
c.10618T>C (p.Tyr3540His)
c.10600T>C (p.Tyr3534His)
c.10513T>C (p.Tyr3505His)
c.6382T>C (p.Tyr2128His)
c.5110T>C (p.Tyr1704His)
c.10465T>C (p.Tyr3489His)
gnomAD v4
2g.195787150A>TCA349933940DNAH7c.10738T>A (p.Tyr3580Asn)
c.187T>A (p.Tyr63Asn)
c.10618T>A (p.Tyr3540Asn)
c.10600T>A (p.Tyr3534Asn)
c.10513T>A (p.Tyr3505Asn)
c.6382T>A (p.Tyr2128Asn)
c.5110T>A (p.Tyr1704Asn)
c.10465T>A (p.Tyr3489Asn)
2g.195787151A>CCA430537456DNAH7c.10737T>G (p.Leu3579=)
c.186T>G (p.Leu62=)
c.10617T>G (p.Leu3539=)
c.10599T>G (p.Leu3533=)
c.10512T>G (p.Leu3504=)
c.6381T>G (p.Leu2127=)
c.5109T>G (p.Leu1703=)
c.10464T>G (p.Leu3488=)
2g.195787151A>GCA430537459DNAH7c.10737T>C (p.Leu3579=)
c.186T>C (p.Leu62=)
c.10617T>C (p.Leu3539=)
c.10599T>C (p.Leu3533=)
c.10512T>C (p.Leu3504=)
c.6381T>C (p.Leu2127=)
c.5109T>C (p.Leu1703=)
c.10464T>C (p.Leu3488=)
2g.195787151A>TCA430537460DNAH7c.10737T>A (p.Leu3579=)
c.186T>A (p.Leu62=)
c.10617T>A (p.Leu3539=)
c.10599T>A (p.Leu3533=)
c.10512T>A (p.Leu3504=)
c.6381T>A (p.Leu2127=)
c.5109T>A (p.Leu1703=)
c.10464T>A (p.Leu3488=)
2g.195787152A>CCA349933941DNAH7c.10736T>G (p.Leu3579Arg)
c.185T>G (p.Leu62Arg)
c.10616T>G (p.Leu3539Arg)
c.10598T>G (p.Leu3533Arg)
c.10511T>G (p.Leu3504Arg)
c.6380T>G (p.Leu2127Arg)
c.5108T>G (p.Leu1703Arg)
c.10463T>G (p.Leu3488Arg)
2g.195787152A>GCA349933942DNAH7c.10736T>C (p.Leu3579Pro)
c.185T>C (p.Leu62Pro)
c.10616T>C (p.Leu3539Pro)
c.10598T>C (p.Leu3533Pro)
c.10511T>C (p.Leu3504Pro)
c.6380T>C (p.Leu2127Pro)
c.5108T>C (p.Leu1703Pro)
c.10463T>C (p.Leu3488Pro)
2g.195787152A>TCA349933943DNAH7c.10736T>A (p.Leu3579His)
c.185T>A (p.Leu62His)
c.10616T>A (p.Leu3539His)
c.10598T>A (p.Leu3533His)
c.10511T>A (p.Leu3504His)
c.6380T>A (p.Leu2127His)
c.5108T>A (p.Leu1703His)
c.10463T>A (p.Leu3488His)
2g.195787153G>ACA2033956DNAH7c.10735C>T (p.Leu3579Phe)
c.184C>T (p.Leu62Phe)
c.10615C>T (p.Leu3539Phe)
c.10597C>T (p.Leu3533Phe)
c.10510C>T (p.Leu3504Phe)
c.6379C>T (p.Leu2127Phe)
c.5107C>T (p.Leu1703Phe)
c.10462C>T (p.Leu3488Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.195787153G>CCA349933945DNAH7c.10735C>G (p.Leu3579Val)
c.184C>G (p.Leu62Val)
c.10615C>G (p.Leu3539Val)
c.10597C>G (p.Leu3533Val)
c.10510C>G (p.Leu3504Val)
c.6379C>G (p.Leu2127Val)
c.5107C>G (p.Leu1703Val)
c.10462C>G (p.Leu3488Val)
2g.195787153G=CA1318502165DNAH7c.10735C= (p.Leu3579=)
c.184C= (p.Leu62=)
c.10615C= (p.Leu3539=)
c.10597C= (p.Leu3533=)
c.10510C= (p.Leu3504=)
c.6379C= (p.Leu2127=)
c.5107C= (p.Leu1703=)
c.10462C= (p.Leu3488=)
2g.195787153G>TCA349933944DNAH7c.10735C>A (p.Leu3579Ile)
c.184C>A (p.Leu62Ile)
c.10615C>A (p.Leu3539Ile)
c.10597C>A (p.Leu3533Ile)
c.10510C>A (p.Leu3504Ile)
c.6379C>A (p.Leu2127Ile)
c.5107C>A (p.Leu1703Ile)
c.10462C>A (p.Leu3488Ile)
2g.195787154C>ACA349933946DNAH7c.10734G>T (p.Leu3578Phe)
c.183G>T (p.Leu61Phe)
c.10614G>T (p.Leu3538Phe)
c.10596G>T (p.Leu3532Phe)
c.10509G>T (p.Leu3503Phe)
c.6378G>T (p.Leu2126Phe)
c.5106G>T (p.Leu1702Phe)
c.10461G>T (p.Leu3487Phe)
2g.195787154C=CA1318502166DNAH7c.10734G= (p.Leu3578=)
c.183G= (p.Leu61=)
c.10614G= (p.Leu3538=)
c.10596G= (p.Leu3532=)
c.10509G= (p.Leu3503=)
c.6378G= (p.Leu2126=)
c.5106G= (p.Leu1702=)
c.10461G= (p.Leu3487=)
2g.195787154C>GCA349933947DNAH7c.10734G>C (p.Leu3578Phe)
c.183G>C (p.Leu61Phe)
c.10614G>C (p.Leu3538Phe)
c.10596G>C (p.Leu3532Phe)
c.10509G>C (p.Leu3503Phe)
c.6378G>C (p.Leu2126Phe)
c.5106G>C (p.Leu1702Phe)
c.10461G>C (p.Leu3487Phe)
gnomAD v4
2g.195787154C>TCA2033957DNAH7c.10734G>A (p.Leu3578=)
c.183G>A (p.Leu61=)
c.10614G>A (p.Leu3538=)
c.10596G>A (p.Leu3532=)
c.10509G>A (p.Leu3503=)
c.6378G>A (p.Leu2126=)
c.5106G>A (p.Leu1702=)
c.10461G>A (p.Leu3487=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.195787155_195787160dupCA2662432931DNAH7c.10729_10734dup (p.Leu3578_Leu3579insLysLeu)
c.178_183dup (p.Leu61_Leu62insLysLeu)
c.10609_10614dup (p.Leu3538_Leu3539insLysLeu)
c.10591_10596dup (p.Leu3532_Leu3533insLysLeu)
c.10504_10509dup (p.Leu3503_Leu3504insLysLeu)
c.6373_6378dup (p.Leu2126_Leu2127insLysLeu)
c.5101_5106dup (p.Leu1702_Leu1703insLysLeu)
c.10456_10461dup (p.Leu3487_Leu3488insLysLeu)
gnomAD v4
2g.195787155A>CCA349933948DNAH7c.10733T>G (p.Leu3578Trp)
c.182T>G (p.Leu61Trp)
c.10613T>G (p.Leu3538Trp)
c.10595T>G (p.Leu3532Trp)
c.10508T>G (p.Leu3503Trp)
c.6377T>G (p.Leu2126Trp)
c.5105T>G (p.Leu1702Trp)
c.10460T>G (p.Leu3487Trp)
2g.195787155A>GCA349933949DNAH7c.10733T>C (p.Leu3578Ser)
c.182T>C (p.Leu61Ser)
c.10613T>C (p.Leu3538Ser)
c.10595T>C (p.Leu3532Ser)
c.10508T>C (p.Leu3503Ser)
c.6377T>C (p.Leu2126Ser)
c.5105T>C (p.Leu1702Ser)
c.10460T>C (p.Leu3487Ser)
gnomAD v4
2g.195787155A>TCA349933950DNAH7c.10733T>A (p.Leu3578Ter)
c.182T>A (p.Leu61Ter)
c.10613T>A (p.Leu3538Ter)
c.10595T>A (p.Leu3532Ter)
c.10508T>A (p.Leu3503Ter)
c.6377T>A (p.Leu2126Ter)
c.5105T>A (p.Leu1702Ter)
c.10460T>A (p.Leu3487Ter)
2g.195787156A>CCA349933951DNAH7c.10732T>G (p.Leu3578Val)
c.181T>G (p.Leu61Val)
c.10612T>G (p.Leu3538Val)
c.10594T>G (p.Leu3532Val)
c.10507T>G (p.Leu3503Val)
c.6376T>G (p.Leu2126Val)
c.5104T>G (p.Leu1702Val)
c.10459T>G (p.Leu3487Val)
2g.195787156A>GCA430537478DNAH7c.10732T>C (p.Leu3578=)
c.181T>C (p.Leu61=)
c.10612T>C (p.Leu3538=)
c.10594T>C (p.Leu3532=)
c.10507T>C (p.Leu3503=)
c.6376T>C (p.Leu2126=)
c.5104T>C (p.Leu1702=)
c.10459T>C (p.Leu3487=)
2g.195787156A>TCA349933952DNAH7c.10732T>A (p.Leu3578Met)
c.181T>A (p.Leu61Met)
c.10612T>A (p.Leu3538Met)
c.10594T>A (p.Leu3532Met)
c.10507T>A (p.Leu3503Met)
c.6376T>A (p.Leu2126Met)
c.5104T>A (p.Leu1702Met)
c.10459T>A (p.Leu3487Met)
2g.195787157T>ACA349933953DNAH7c.10731A>T (p.Lys3577Asn)
c.180A>T (p.Lys60Asn)
c.10611A>T (p.Lys3537Asn)
c.10593A>T (p.Lys3531Asn)
c.10506A>T (p.Lys3502Asn)
c.6375A>T (p.Lys2125Asn)
c.5103A>T (p.Lys1701Asn)
c.10458A>T (p.Lys3486Asn)
2g.195787157T>CCA430537483DNAH7c.10731A>G (p.Lys3577=)
c.180A>G (p.Lys60=)
c.10611A>G (p.Lys3537=)
c.10593A>G (p.Lys3531=)
c.10506A>G (p.Lys3502=)
c.6375A>G (p.Lys2125=)
c.5103A>G (p.Lys1701=)
c.10458A>G (p.Lys3486=)
2g.195787157T>GCA349933954DNAH7c.10731A>C (p.Lys3577Asn)
c.180A>C (p.Lys60Asn)
c.10611A>C (p.Lys3537Asn)
c.10593A>C (p.Lys3531Asn)
c.10506A>C (p.Lys3502Asn)
c.6375A>C (p.Lys2125Asn)
c.5103A>C (p.Lys1701Asn)
c.10458A>C (p.Lys3486Asn)
2g.195787158T>ACA349933955DNAH7c.10730A>T (p.Lys3577Ile)
c.179A>T (p.Lys60Ile)
c.10610A>T (p.Lys3537Ile)
c.10592A>T (p.Lys3531Ile)
c.10505A>T (p.Lys3502Ile)
c.6374A>T (p.Lys2125Ile)
c.5102A>T (p.Lys1701Ile)
c.10457A>T (p.Lys3486Ile)
2g.195787158T>CCA349933956DNAH7c.10730A>G (p.Lys3577Arg)
c.179A>G (p.Lys60Arg)
c.10610A>G (p.Lys3537Arg)
c.10592A>G (p.Lys3531Arg)
c.10505A>G (p.Lys3502Arg)
c.6374A>G (p.Lys2125Arg)
c.5102A>G (p.Lys1701Arg)
c.10457A>G (p.Lys3486Arg)
2g.195787158T>GCA349933958DNAH7c.10730A>C (p.Lys3577Thr)
c.179A>C (p.Lys60Thr)
c.10610A>C (p.Lys3537Thr)
c.10592A>C (p.Lys3531Thr)
c.10505A>C (p.Lys3502Thr)
c.6374A>C (p.Lys2125Thr)
c.5102A>C (p.Lys1701Thr)
c.10457A>C (p.Lys3486Thr)
2g.195787159T>ACA349933962DNAH7c.10729A>T (p.Lys3577Ter)
c.178A>T (p.Lys60Ter)
c.10609A>T (p.Lys3537Ter)
c.10591A>T (p.Lys3531Ter)
c.10504A>T (p.Lys3502Ter)
c.6373A>T (p.Lys2125Ter)
c.5101A>T (p.Lys1701Ter)
c.10456A>T (p.Lys3486Ter)
2g.195787159T>CCA349933964DNAH7c.10729A>G (p.Lys3577Glu)
c.178A>G (p.Lys60Glu)
c.10609A>G (p.Lys3537Glu)
c.10591A>G (p.Lys3531Glu)
c.10504A>G (p.Lys3502Glu)
c.6373A>G (p.Lys2125Glu)
c.5101A>G (p.Lys1701Glu)
c.10456A>G (p.Lys3486Glu)
2g.195787159T>GCA349933961DNAH7c.10729A>C (p.Lys3577Gln)
c.178A>C (p.Lys60Gln)
c.10609A>C (p.Lys3537Gln)
c.10591A>C (p.Lys3531Gln)
c.10504A>C (p.Lys3502Gln)
c.6373A>C (p.Lys2125Gln)
c.5101A>C (p.Lys1701Gln)
c.10456A>C (p.Lys3486Gln)
gnomAD v4
2g.195787160C>ACA349933967DNAH7c.10728G>T (p.Lys3576Asn)
c.177G>T (p.Lys59Asn)
c.10608G>T (p.Lys3536Asn)
c.10590G>T (p.Lys3530Asn)
c.10503G>T (p.Lys3501Asn)
c.6372G>T (p.Lys2124Asn)
c.5100G>T (p.Lys1700Asn)
c.10455G>T (p.Lys3485Asn)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.195787160C=CA1318502170DNAH7c.10728G= (p.Lys3576=)
c.177G= (p.Lys59=)
c.10608G= (p.Lys3536=)
c.10590G= (p.Lys3530=)
c.10503G= (p.Lys3501=)
c.6372G= (p.Lys2124=)
c.5100G= (p.Lys1700=)
c.10455G= (p.Lys3485=)
2g.195787160C>GCA349933968DNAH7c.10728G>C (p.Lys3576Asn)
c.177G>C (p.Lys59Asn)
c.10608G>C (p.Lys3536Asn)
c.10590G>C (p.Lys3530Asn)
c.10503G>C (p.Lys3501Asn)
c.6372G>C (p.Lys2124Asn)
c.5100G>C (p.Lys1700Asn)
c.10455G>C (p.Lys3485Asn)
gnomAD v4
2g.195787160C>TCA430537492DNAH7c.10728G>A (p.Lys3576=)
c.177G>A (p.Lys59=)
c.10608G>A (p.Lys3536=)
c.10590G>A (p.Lys3530=)
c.10503G>A (p.Lys3501=)
c.6372G>A (p.Lys2124=)
c.5100G>A (p.Lys1700=)
c.10455G>A (p.Lys3485=)
COSMIC
2g.195787161T>ACA349933971DNAH7c.10727A>T (p.Lys3576Met)
c.176A>T (p.Lys59Met)
c.10607A>T (p.Lys3536Met)
c.10589A>T (p.Lys3530Met)
c.10502A>T (p.Lys3501Met)
c.6371A>T (p.Lys2124Met)
c.5099A>T (p.Lys1700Met)
c.10454A>T (p.Lys3485Met)
2g.195787161T>CCA349933973DNAH7c.10727A>G (p.Lys3576Arg)
c.176A>G (p.Lys59Arg)
c.10607A>G (p.Lys3536Arg)
c.10589A>G (p.Lys3530Arg)
c.10502A>G (p.Lys3501Arg)
c.6371A>G (p.Lys2124Arg)
c.5099A>G (p.Lys1700Arg)
c.10454A>G (p.Lys3485Arg)
dbSNP gnomAD v4
2g.195787161T>GCA349933972DNAH7c.10727A>C (p.Lys3576Thr)
c.176A>C (p.Lys59Thr)
c.10607A>C (p.Lys3536Thr)
c.10589A>C (p.Lys3530Thr)
c.10502A>C (p.Lys3501Thr)
c.6371A>C (p.Lys2124Thr)
c.5099A>C (p.Lys1700Thr)
c.10454A>C (p.Lys3485Thr)
2g.195787161T=CA1318502172DNAH7c.10727A= (p.Lys3576=)
c.176A= (p.Lys59=)
c.10607A= (p.Lys3536=)
c.10589A= (p.Lys3530=)
c.10502A= (p.Lys3501=)
c.6371A= (p.Lys2124=)
c.5099A= (p.Lys1700=)
c.10454A= (p.Lys3485=)
2g.195787162T>ACA349933976DNAH7c.10726A>T (p.Lys3576Ter)
c.175A>T (p.Lys59Ter)
c.10606A>T (p.Lys3536Ter)
c.10588A>T (p.Lys3530Ter)
c.10501A>T (p.Lys3501Ter)
c.6370A>T (p.Lys2124Ter)
c.5098A>T (p.Lys1700Ter)
c.10453A>T (p.Lys3485Ter)
2g.195787162T>CCA349933978DNAH7c.10726A>G (p.Lys3576Glu)
c.175A>G (p.Lys59Glu)
c.10606A>G (p.Lys3536Glu)
c.10588A>G (p.Lys3530Glu)
c.10501A>G (p.Lys3501Glu)
c.6370A>G (p.Lys2124Glu)
c.5098A>G (p.Lys1700Glu)
c.10453A>G (p.Lys3485Glu)
2g.195787162T>GCA349933977DNAH7c.10726A>C (p.Lys3576Gln)
c.175A>C (p.Lys59Gln)
c.10606A>C (p.Lys3536Gln)
c.10588A>C (p.Lys3530Gln)
c.10501A>C (p.Lys3501Gln)
c.6370A>C (p.Lys2124Gln)
c.5098A>C (p.Lys1700Gln)
c.10453A>C (p.Lys3485Gln)
2g.195787163G>ACA430537500DNAH7c.10725C>T (p.Phe3575=)
c.174C>T (p.Phe58=)
c.10605C>T (p.Phe3535=)
c.10587C>T (p.Phe3529=)
c.10500C>T (p.Phe3500=)
c.6369C>T (p.Phe2123=)
c.5097C>T (p.Phe1699=)
c.10452C>T (p.Phe3484=)
2g.195787163G>CCA349933980DNAH7c.10725C>G (p.Phe3575Leu)
c.174C>G (p.Phe58Leu)
c.10605C>G (p.Phe3535Leu)
c.10587C>G (p.Phe3529Leu)
c.10500C>G (p.Phe3500Leu)
c.6369C>G (p.Phe2123Leu)
c.5097C>G (p.Phe1699Leu)
c.10452C>G (p.Phe3484Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.195787163G=CA1318502174DNAH7c.10725C= (p.Phe3575=)
c.174C= (p.Phe58=)
c.10605C= (p.Phe3535=)
c.10587C= (p.Phe3529=)
c.10500C= (p.Phe3500=)
c.6369C= (p.Phe2123=)
c.5097C= (p.Phe1699=)
c.10452C= (p.Phe3484=)
2g.195787163G>TCA349933982DNAH7c.10725C>A (p.Phe3575Leu)
c.174C>A (p.Phe58Leu)
c.10605C>A (p.Phe3535Leu)
c.10587C>A (p.Phe3529Leu)
c.10500C>A (p.Phe3500Leu)
c.6369C>A (p.Phe2123Leu)
c.5097C>A (p.Phe1699Leu)
c.10452C>A (p.Phe3484Leu)
gnomAD v4
2g.195787164A>CCA349933984DNAH7c.10724T>G (p.Phe3575Cys)
c.173T>G (p.Phe58Cys)
c.10604T>G (p.Phe3535Cys)
c.10586T>G (p.Phe3529Cys)
c.10499T>G (p.Phe3500Cys)
c.6368T>G (p.Phe2123Cys)
c.5096T>G (p.Phe1699Cys)
c.10451T>G (p.Phe3484Cys)
gnomAD v4
2g.195787164A>GCA349933987DNAH7c.10724T>C (p.Phe3575Ser)
c.173T>C (p.Phe58Ser)
c.10604T>C (p.Phe3535Ser)
c.10586T>C (p.Phe3529Ser)
c.10499T>C (p.Phe3500Ser)
c.6368T>C (p.Phe2123Ser)
c.5096T>C (p.Phe1699Ser)
c.10451T>C (p.Phe3484Ser)
2g.195787164A>TCA349933986DNAH7c.10724T>A (p.Phe3575Tyr)
c.173T>A (p.Phe58Tyr)
c.10604T>A (p.Phe3535Tyr)
c.10586T>A (p.Phe3529Tyr)
c.10499T>A (p.Phe3500Tyr)
c.6368T>A (p.Phe2123Tyr)
c.5096T>A (p.Phe1699Tyr)
c.10451T>A (p.Phe3484Tyr)
2g.195787165A=CA1318502182DNAH7c.10723T= (p.Phe3575=)
c.172T= (p.Phe58=)
c.10603T= (p.Phe3535=)
c.10585T= (p.Phe3529=)
c.10498T= (p.Phe3500=)
c.6367T= (p.Phe2123=)
c.5095T= (p.Phe1699=)
c.10450T= (p.Phe3484=)
2g.195787165A>CCA349933990DNAH7c.10723T>G (p.Phe3575Val)
c.172T>G (p.Phe58Val)
c.10603T>G (p.Phe3535Val)
c.10585T>G (p.Phe3529Val)
c.10498T>G (p.Phe3500Val)
c.6367T>G (p.Phe2123Val)
c.5095T>G (p.Phe1699Val)
c.10450T>G (p.Phe3484Val)
2g.195787165A>GCA349933994DNAH7c.10723T>C (p.Phe3575Leu)
c.172T>C (p.Phe58Leu)
c.10603T>C (p.Phe3535Leu)
c.10585T>C (p.Phe3529Leu)
c.10498T>C (p.Phe3500Leu)
c.6367T>C (p.Phe2123Leu)
c.5095T>C (p.Phe1699Leu)
c.10450T>C (p.Phe3484Leu)
dbSNP gnomAD v3 gnomAD v4
2g.195787165A>TCA349933992DNAH7c.10723T>A (p.Phe3575Ile)
c.172T>A (p.Phe58Ile)
c.10603T>A (p.Phe3535Ile)
c.10585T>A (p.Phe3529Ile)
c.10498T>A (p.Phe3500Ile)
c.6367T>A (p.Phe2123Ile)
c.5095T>A (p.Phe1699Ile)
c.10450T>A (p.Phe3484Ile)
2g.195787166T>ACA349933996DNAH7c.10722A>T (p.Glu3574Asp)
c.171A>T (p.Glu57Asp)
c.10602A>T (p.Glu3534Asp)
c.10584A>T (p.Glu3528Asp)
c.10497A>T (p.Glu3499Asp)
c.6366A>T (p.Glu2122Asp)
c.5094A>T (p.Glu1698Asp)
c.10449A>T (p.Glu3483Asp)
COSMIC
2g.195787166T>CCA430537512DNAH7c.10722A>G (p.Glu3574=)
c.171A>G (p.Glu57=)
c.10602A>G (p.Glu3534=)
c.10584A>G (p.Glu3528=)
c.10497A>G (p.Glu3499=)
c.6366A>G (p.Glu2122=)
c.5094A>G (p.Glu1698=)
c.10449A>G (p.Glu3483=)
2g.195787166T>GCA349933997DNAH7c.10722A>C (p.Glu3574Asp)
c.171A>C (p.Glu57Asp)
c.10602A>C (p.Glu3534Asp)
c.10584A>C (p.Glu3528Asp)
c.10497A>C (p.Glu3499Asp)
c.6366A>C (p.Glu2122Asp)
c.5094A>C (p.Glu1698Asp)
c.10449A>C (p.Glu3483Asp)
2g.195787167T>ACA349934000DNAH7c.10721A>T (p.Glu3574Val)
c.170A>T (p.Glu57Val)
c.10601A>T (p.Glu3534Val)
c.10583A>T (p.Glu3528Val)
c.10496A>T (p.Glu3499Val)
c.6365A>T (p.Glu2122Val)
c.5093A>T (p.Glu1698Val)
c.10448A>T (p.Glu3483Val)
2g.195787167T>CCA349934003DNAH7c.10721A>G (p.Glu3574Gly)
c.170A>G (p.Glu57Gly)
c.10601A>G (p.Glu3534Gly)
c.10583A>G (p.Glu3528Gly)
c.10496A>G (p.Glu3499Gly)
c.6365A>G (p.Glu2122Gly)
c.5093A>G (p.Glu1698Gly)
c.10448A>G (p.Glu3483Gly)
2g.195787167T>GCA349934001DNAH7c.10721A>C (p.Glu3574Ala)
c.170A>C (p.Glu57Ala)
c.10601A>C (p.Glu3534Ala)
c.10583A>C (p.Glu3528Ala)
c.10496A>C (p.Glu3499Ala)
c.6365A>C (p.Glu2122Ala)
c.5093A>C (p.Glu1698Ala)
c.10448A>C (p.Glu3483Ala)
2g.195787168C>ACA349934005DNAH7c.10720G>T (p.Glu3574Ter)
c.169G>T (p.Glu57Ter)
c.10600G>T (p.Glu3534Ter)
c.10582G>T (p.Glu3528Ter)
c.10495G>T (p.Glu3499Ter)
c.6364G>T (p.Glu2122Ter)
c.5092G>T (p.Glu1698Ter)
c.10447G>T (p.Glu3483Ter)
2g.195787168C>GCA349934008DNAH7c.10720G>C (p.Glu3574Gln)
c.169G>C (p.Glu57Gln)
c.10600G>C (p.Glu3534Gln)
c.10582G>C (p.Glu3528Gln)
c.10495G>C (p.Glu3499Gln)
c.6364G>C (p.Glu2122Gln)
c.5092G>C (p.Glu1698Gln)
c.10447G>C (p.Glu3483Gln)
2g.195787168C>TCA349934006DNAH7c.10720G>A (p.Glu3574Lys)
c.169G>A (p.Glu57Lys)
c.10600G>A (p.Glu3534Lys)
c.10582G>A (p.Glu3528Lys)
c.10495G>A (p.Glu3499Lys)
c.6364G>A (p.Glu2122Lys)
c.5092G>A (p.Glu1698Lys)
c.10447G>A (p.Glu3483Lys)

Number of alleles fetched