Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.195787068T>A | CA349933757 | DNAH7 | c.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) | |
2 | g.195787068T>C | CA2033941 | DNAH7 | c.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 |
2 | g.195787068T>G | CA349933758 | DNAH7 | c.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 |
2 | g.195787068T= | CA1318501843 | DNAH7 | c.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=) | |
2 | g.195787069T>A | CA349933760 | DNAH7 | c.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) | |
2 | g.195787069T>C | CA2033942 | DNAH7 | c.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 |
2 | g.195787069T>G | CA349933759 | DNAH7 | c.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) | |
2 | g.195787069T= | CA1318501849 | DNAH7 | c.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=) | |
2 | g.195787070G>A | CA430536846 | DNAH7 | c.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=) | |
2 | g.195787070G>C | CA349933762 | DNAH7 | c.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) | |
2 | g.195787070G>T | CA349933761 | DNAH7 | c.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) | |
2 | g.195787071A= | CA1318501857 | DNAH7 | c.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=) | |
2 | g.195787071A>C | CA349933763 | DNAH7 | c.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 |
2 | g.195787071A>G | CA349933764 | DNAH7 | c.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) | |
2 | g.195787071A>T | CA349933765 | DNAH7 | c.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) | |
2 | g.195787072A= | CA1318501861 | DNAH7 | c.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=) | |
2 | g.195787072A>C | CA349933766 | DNAH7 | c.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) | |
2 | g.195787072A>G | CA349933767 | DNAH7 | c.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 |
2 | g.195787072A>T | CA349933768 | DNAH7 | c.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) | |
2 | g.195787073C>A | CA349933769 | DNAH7 | c.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) | |
2 | g.195787073C= | CA1318501870 | DNAH7 | c.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=) | |
2 | g.195787073C>G | CA62726805 | DNAH7 | c.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 |
2 | g.195787073C>T | CA2033943 | DNAH7 | c.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 |
2 | g.195787073_195787074insCAG | CA1318501874 | DNAH7 | c.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 |
2 | g.195787074T>A | CA349933770 | DNAH7 | c.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) | |
2 | g.195787074T>C | CA349933771 | DNAH7 | c.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) | |
2 | g.195787074T>G | CA349933772 | DNAH7 | c.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) | |
2 | g.195787075C>A | CA349933775 | DNAH7 | c.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 |
2 | g.195787075C= | CA1318501876 | DNAH7 | c.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=) | |
2 | g.195787075C>G | CA349933773 | DNAH7 | c.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 |
2 | g.195787075C>T | CA349933774 | DNAH7 | c.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) | |
2 | g.195787076A= | CA1318501881 | DNAH7 | c.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=) | |
2 | g.195787076A>C | CA349933776 | DNAH7 | c.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 |
2 | g.195787076A>G | CA430536872 | DNAH7 | c.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=) | |
2 | g.195787076A>T | CA349933777 | DNAH7 | c.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) | |
2 | g.195787077T>A | CA349933778 | DNAH7 | c.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) | |
2 | g.195787077T>C | CA62726816 | DNAH7 | c.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 |
2 | g.195787077T>G | CA349933779 | DNAH7 | c.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) | |
2 | g.195787077T= | CA1318501886 | DNAH7 | c.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=) | |
2 | g.195787078A= | CA1318501898 | DNAH7 | c.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=) | |
2 | g.195787078A>C | CA349933780 | DNAH7 | c.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) | |
2 | g.195787078A>G | CA349933781 | DNAH7 | c.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 |
2 | g.195787078A>T | CA349933782 | DNAH7 | c.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) | |
2 | g.195787078_195787079insT | CA1040881722 | DNAH7 | c.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 |
2 | g.195787079A= | CA1318501904 | DNAH7 | c.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=) | |
2 | g.195787079A>C | CA2033944 | DNAH7 | c.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 |
2 | g.195787079A>G | CA430536883 | DNAH7 | c.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=) | |
2 | g.195787079A>T | CA430536885 | DNAH7 | c.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=) | |
2 | g.195787079_195787081delinsAGG | CA1318501906 | DNAH7 | c.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=) | |
2 | g.195787080G>A | CA349933783 | DNAH7 | c.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 |
2 | g.195787080G>C | CA349933784 | DNAH7 | c.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) | |
2 | g.195787080G= | CA1318501909 | DNAH7 | c.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=) | |
2 | g.195787080G>T | CA349933785 | DNAH7 | c.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 |
2 | g.195787080_195787081del | CA1040881729 | DNAH7 | c.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 |
2 | g.195787081G>A | CA349933787 | DNAH7 | c.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 |
2 | g.195787081G>C | CA349933788 | DNAH7 | c.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) | |
2 | g.195787081G>T | CA349933786 | DNAH7 | c.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) | |
2 | g.195787081_195787082delinsGA | CA1318501924 | DNAH7 | c.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=) | |
2 | g.195787082A= | CA1318501936 | DNAH7 | c.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=) | |
2 | g.195787082A>C | CA349933789 | DNAH7 | c.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) | |
2 | g.195787082A>G | CA430536895 | DNAH7 | c.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 |
2 | g.195787082A>T | CA430536896 | DNAH7 | c.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 |
2 | g.195787083del | CA1318501938 | DNAH7 | c.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 |
2 | g.195787083A= | CA1318501942 | DNAH7 | c.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=) | |
2 | g.195787083A>C | CA349933792 | DNAH7 | c.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 |
2 | g.195787083A>G | CA349933790 | DNAH7 | c.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) | |
2 | g.195787083A>T | CA349933791 | DNAH7 | c.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) | |
2 | g.195787084T>A | CA349933793 | DNAH7 | c.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) | |
2 | g.195787084T>C | CA349933794 | DNAH7 | c.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) | |
2 | g.195787084T>G | CA349933795 | DNAH7 | c.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) | |
2 | g.195787085A>C | CA349933796 | DNAH7 | c.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) | |
2 | g.195787085A>G | CA430536906 | DNAH7 | c.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=) | |
2 | g.195787085A>T | CA349933797 | DNAH7 | c.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) | |
2 | g.195787086T>A | CA349933798 | DNAH7 | c.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) | |
2 | g.195787086T>C | CA349933799 | DNAH7 | c.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) | |
2 | g.195787086T>G | CA349933800 | DNAH7 | c.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) | |
2 | g.195787087T>A | CA349933803 | DNAH7 | c.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 |
2 | g.195787087T>C | CA349933802 | DNAH7 | c.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) | |
2 | g.195787087T>G | CA349933801 | DNAH7 | c.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) | |
2 | g.195787088C>A | CA349933804 | DNAH7 | c.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) | |
2 | g.195787088C= | CA1318501948 | DNAH7 | c.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=) | |
2 | g.195787088C>G | CA349933805 | DNAH7 | c.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) | |
2 | g.195787088C>T | CA349933806 | DNAH7 | c.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 |
2 | g.195787089C>A | CA349933807 | DNAH7 | c.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) | |
2 | g.195787089C= | CA1318501957 | DNAH7 | c.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=) | |
2 | g.195787089C>G | CA349933808 | DNAH7 | c.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) | |
2 | g.195787089C>T | CA349933809 | DNAH7 | c.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 |
2 | g.195787090A>C | CA349933810 | DNAH7 | c.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) | |
2 | g.195787090A>G | CA349933811 | DNAH7 | c.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 |
2 | g.195787090A>T | CA349933812 | DNAH7 | c.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) | |
2 | g.195787091C>A | CA430536931 | DNAH7 | c.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=) | |
2 | g.195787091C= | CA1318501965 | DNAH7 | c.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=) | |
2 | g.195787091C>G | CA430536928 | DNAH7 | c.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=) | |
2 | g.195787091C>T | CA430536926 | DNAH7 | c.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 |
2 | g.195787092C>A | CA349933813 | DNAH7 | c.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) | |
2 | g.195787092C>G | CA349933814 | DNAH7 | c.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) | |
2 | g.195787092C>T | CA349933815 | DNAH7 | c.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 |
2 | g.195787093C>A | CA349933817 | DNAH7 | c.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 |
2 | g.195787093C>G | CA349933818 | DNAH7 | c.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 |
2 | g.195787093C>T | CA349933816 | DNAH7 | c.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) | |
2 | g.195787093_195787094insA | CA2662432928 | DNAH7 | c.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 |
2 | g.195787094T>A | CA430536940 | DNAH7 | c.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=) | |
2 | g.195787094T>C | CA430536944 | DNAH7 | c.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=) | |
2 | g.195787094T>G | CA430536942 | DNAH7 | c.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=) | |
2 | g.195787095A= | CA1318501973 | DNAH7 | c.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=) | |
2 | g.195787095A>C | CA349933819 | DNAH7 | c.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) | |
2 | g.195787095A>G | CA349933820 | DNAH7 | c.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) | |
2 | g.195787095A>T | CA349933821 | DNAH7 | c.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 |
2 | g.195787096G>A | CA430536950 | DNAH7 | c.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=) | |
2 | g.195787096G>C | CA349933822 | DNAH7 | c.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) | |
2 | g.195787096G>T | CA349933823 | DNAH7 | c.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) | |
2 | g.195787099dup | CA538495320 | DNAH7 | c.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 |
2 | g.195787097G>A | CA430536954 | DNAH7 | c.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 |
2 | g.195787097G>C | CA430536955 | DNAH7 | c.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=) | |
2 | g.195787097G>T | CA430536957 | DNAH7 | c.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=) | |
2 | g.195787098G>A | CA349933826 | DNAH7 | c.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 |
2 | g.195787098G>C | CA349933825 | DNAH7 | c.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) | |
2 | g.195787098G>T | CA349933824 | DNAH7 | c.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 |
2 | g.195787099G>A | CA349933827 | DNAH7 | c.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) | |
2 | g.195787099G>C | CA349933828 | DNAH7 | c.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) | |
2 | g.195787099G= | CA1318501976 | DNAH7 | c.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=) | |
2 | g.195787099G>T | CA349933829 | DNAH7 | c.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 |
2 | g.195787100T>A | CA430536967 | DNAH7 | c.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=) | |
2 | g.195787100T>C | CA430536966 | DNAH7 | c.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=) | |
2 | g.195787100T>G | CA430536969 | DNAH7 | c.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=) | |
2 | g.195787101C>A | CA349933830 | DNAH7 | c.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 |
2 | g.195787101C= | CA1318501986 | DNAH7 | c.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=) | |
2 | g.195787101C>G | CA349933831 | DNAH7 | c.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) | |
2 | g.195787101C>T | CA349933832 | DNAH7 | c.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 |
2 | g.195787102C>A | CA349933833 | DNAH7 | c.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) | |
2 | g.195787102C>G | CA349933835 | DNAH7 | c.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) | |
2 | g.195787102C>T | CA349933834 | DNAH7 | c.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 |
2 | g.195787103A>C | CA349933836 | DNAH7 | c.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) | |
2 | g.195787103A>G | CA430536980 | DNAH7 | c.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=) | |
2 | g.195787103A>T | CA349933837 | DNAH7 | c.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) | |
2 | g.195787104A>C | CA349933838 | DNAH7 | c.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) | |
2 | g.195787104A>G | CA349933839 | DNAH7 | c.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) | |
2 | g.195787104A>T | CA349933840 | DNAH7 | c.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) | |
2 | g.195787105A>C | CA349933841 | DNAH7 | c.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) | |
2 | g.195787105A>G | CA349933842 | DNAH7 | c.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) | |
2 | g.195787105A>T | CA349933843 | DNAH7 | c.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) | |
2 | g.195787106T>A | CA349933844 | DNAH7 | c.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) | |
2 | g.195787106T>C | CA2033945 | DNAH7 | c.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 |
2 | g.195787106T>G | CA349933845 | DNAH7 | c.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) | |
2 | g.195787106T= | CA1318501989 | DNAH7 | c.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=) | |
2 | g.195787107T>A | CA349933848 | DNAH7 | c.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) | |
2 | g.195787107T>C | CA349933847 | DNAH7 | c.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) | |
2 | g.195787107T>G | CA349933846 | DNAH7 | c.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) | |
2 | g.195787108T>A | CA349933849 | DNAH7 | c.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) | |
2 | g.195787108T>C | CA2033946 | DNAH7 | c.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 |
2 | g.195787108T>G | CA349933850 | DNAH7 | c.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) | |
2 | g.195787108T= | CA1318501992 | DNAH7 | c.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=) | |
2 | g.195787109C>A | CA430537001 | DNAH7 | c.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=) | |
2 | g.195787109C>G | CA430537002 | DNAH7 | c.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=) | |
2 | g.195787109C>T | CA430537005 | DNAH7 | c.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 |
2 | g.195787110C>A | CA349933851 | DNAH7 | c.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) | |
2 | g.195787110C= | CA1318502002 | DNAH7 | c.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=) | |
2 | g.195787110C>G | CA349933852 | DNAH7 | c.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) | |
2 | g.195787110C>T | CA2033947 | DNAH7 | c.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 |
2 | g.195787111G>A | CA2033948 | DNAH7 | c.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 |
2 | g.195787111G>C | CA349933853 | DNAH7 | c.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) | |
2 | g.195787111G= | CA1318502008 | DNAH7 | c.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=) | |
2 | g.195787111G>T | CA430537011 | DNAH7 | c.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 |
2 | g.195787112T>A | CA349933854 | DNAH7 | c.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) | |
2 | g.195787112T>C | CA430537016 | DNAH7 | c.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=) | |
2 | g.195787112T>G | CA349933855 | DNAH7 | c.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) | |
2 | g.195787113C>A | CA349933856 | DNAH7 | c.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) | |
2 | g.195787113C>G | CA349933858 | DNAH7 | c.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) | |
2 | g.195787113C>T | CA349933857 | DNAH7 | c.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) | |
2 | g.195787114T>A | CA349933859 | DNAH7 | c.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) | |
2 | g.195787114T>C | CA2033949 | DNAH7 | c.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 |
2 | g.195787114T>G | CA430537022 | DNAH7 | c.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=) | |
2 | g.195787114T= | CA1318502019 | DNAH7 | c.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=) | |
2 | g.195787115T>A | CA349933860 | DNAH7 | c.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 |
2 | g.195787115T>C | CA430537025 | DNAH7 | c.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=) | |
2 | g.195787115T>G | CA349933861 | DNAH7 | c.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) | |
2 | g.195787115T= | CA1318502021 | DNAH7 | c.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=) | |
2 | g.195787116T>A | CA349933862 | DNAH7 | c.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) | |
2 | g.195787116T>C | CA349933864 | DNAH7 | c.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) | |
2 | g.195787116T>G | CA349933863 | DNAH7 | c.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 |
2 | g.195787117C>A | CA349933865 | DNAH7 | c.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) | |
2 | g.195787117C>G | CA349933866 | DNAH7 | c.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) | |
2 | g.195787117C>T | CA349933867 | DNAH7 | c.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 |
2 | g.195787118T>A | CA349933868 | DNAH7 | c.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) | |
2 | g.195787118T>C | CA430537036 | DNAH7 | c.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 |
2 | g.195787118T>G | CA349933869 | DNAH7 | c.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) | |
2 | g.195787119T>A | CA349933870 | DNAH7 | c.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) | |
2 | g.195787119T>C | CA349933871 | DNAH7 | c.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 |
2 | g.195787119T>G | CA349933872 | DNAH7 | c.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) | |
2 | g.195787119T= | CA1318502026 | DNAH7 | c.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=) | |
2 | g.195787120G>A | CA349933873 | DNAH7 | c.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 |
2 | g.195787120G>C | CA349933874 | DNAH7 | c.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) | |
2 | g.195787120G>T | CA349933875 | DNAH7 | c.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) | |
2 | g.195787121T>A | CA62726851 | DNAH7 | c.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 |
2 | g.195787121T>C | CA430537048 | DNAH7 | c.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 |
2 | g.195787121T>G | CA430537045 | DNAH7 | c.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=) | |
2 | g.195787121T= | CA1318502033 | DNAH7 | c.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=) | |
2 | g.195787122A= | CA1318502038 | DNAH7 | c.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=) | |
2 | g.195787122A>C | CA349933878 | DNAH7 | c.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) | |
2 | g.195787122A>G | CA349933876 | DNAH7 | c.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) | |
2 | g.195787122A>T | CA349933877 | DNAH7 | c.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 |
2 | g.195787122dup | CA2662432929 | DNAH7 | c.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 |
2 | g.195787123C>A | CA349933879 | DNAH7 | c.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) | |
2 | g.195787123C= | CA1318502046 | DNAH7 | c.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=) | |
2 | g.195787123C>G | CA62726859 | DNAH7 | c.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 |
2 | g.195787123C>T | CA349933880 | DNAH7 | c.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 |
2 | g.195787124C>A | CA349933881 | DNAH7 | c.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) | |
2 | g.195787124C= | CA1318502055 | DNAH7 | c.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=) | |
2 | g.195787124C>G | CA349933882 | DNAH7 | c.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) | |
2 | g.195787124C>T | CA62726860 | DNAH7 | c.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 |
2 | g.195787125A= | CA1318502057 | DNAH7 | c.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=) | |
2 | g.195787125A>C | CA349933883 | DNAH7 | c.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) | |
2 | g.195787125A>G | CA2033950 | DNAH7 | c.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 |
2 | g.195787125A>T | CA349933884 | DNAH7 | c.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) | |
2 | g.195787126A>C | CA349933885 | DNAH7 | c.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) | |
2 | g.195787126A>G | CA430537066 | DNAH7 | c.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=) | |
2 | g.195787126A>T | CA349933886 | DNAH7 | c.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) | |
2 | g.195787127A>C | CA430537069 | DNAH7 | c.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 |
2 | g.195787127A>G | CA430537073 | DNAH7 | c.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=) | |
2 | g.195787127A>T | CA430537071 | DNAH7 | c.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=) | |
2 | g.195787128G>A | CA349933888 | DNAH7 | c.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 |
2 | g.195787128G>C | CA2033951 | DNAH7 | c.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 |
2 | g.195787128G= | CA1318502066 | DNAH7 | c.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=) | |
2 | g.195787128G>T | CA349933887 | DNAH7 | c.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) | |
2 | g.195787129C>A | CA349933889 | DNAH7 | c.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) | |
2 | g.195787129C= | CA1318502072 | DNAH7 | c.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=) | |
2 | g.195787129C>G | CA349933890 | DNAH7 | c.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) | |
2 | g.195787129C>T | CA349933891 | DNAH7 | c.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 |
2 | g.195787130A= | CA1318502079 | DNAH7 | c.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=) | |
2 | g.195787130A>C | CA349933892 | DNAH7 | c.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) | |
2 | g.195787130A>G | CA430537083 | DNAH7 | c.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 |
2 | g.195787130A>T | CA349933893 | DNAH7 | c.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) | |
2 | g.195787131T>A | CA349933896 | DNAH7 | c.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) | |
2 | g.195787131T>C | CA349933894 | DNAH7 | c.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 |
2 | g.195787131T>G | CA349933895 | DNAH7 | c.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) | |
2 | g.195787131T= | CA1318502088 | DNAH7 | c.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=) | |
2 | g.195787132G>A | CA349933897 | DNAH7 | c.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 |
2 | g.195787132G>C | CA349933898 | DNAH7 | c.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) | |
2 | g.195787132G= | CA1318502103 | DNAH7 | c.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=) | |
2 | g.195787132G>T | CA349933899 | DNAH7 | c.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) | |
2 | g.195787133A>C | CA349933900 | DNAH7 | c.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) | |
2 | g.195787133A>G | CA430537094 | DNAH7 | c.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=) | |
2 | g.195787133A>T | CA349933901 | DNAH7 | c.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) | |
2 | g.195787134A>C | CA349933902 | DNAH7 | c.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 |
2 | g.195787134A>G | CA349933904 | DNAH7 | c.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) | |
2 | g.195787134A>T | CA349933903 | DNAH7 | c.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) | |
2 | g.195787135A= | CA1318502115 | DNAH7 | c.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=) | |
2 | g.195787135A>C | CA349933905 | DNAH7 | c.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) | |
2 | g.195787135A>G | CA16044214 | DNAH7 | c.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 |
2 | g.195787135A>T | CA349933906 | DNAH7 | c.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) | |
2 | g.195787136G>A | CA430537105 | DNAH7 | c.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 |
2 | g.195787136G>C | CA349933907 | DNAH7 | c.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) | |
2 | g.195787136G>T | CA349933908 | DNAH7 | c.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) | |
2 | g.195787137A>C | CA349933909 | DNAH7 | c.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) | |
2 | g.195787137A>G | CA349933910 | DNAH7 | c.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) | |
2 | g.195787137A>T | CA349933911 | DNAH7 | c.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) | |
2 | g.195787138A>C | CA349933912 | DNAH7 | c.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) | |
2 | g.195787138A>G | CA349933913 | DNAH7 | c.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) | |
2 | g.195787138A>T | CA349933914 | DNAH7 | c.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) | |
2 | g.195787139A>C | CA349933915 | DNAH7 | c.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) | |
2 | g.195787139A>G | CA430537408 | DNAH7 | c.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=) | |
2 | g.195787139A>T | CA349933917 | DNAH7 | c.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) | |
2 | g.195787140C>A | CA349933918 | DNAH7 | c.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) | |
2 | g.195787140C>G | CA349933919 | DNAH7 | c.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) | |
2 | g.195787140C>T | CA349933920 | DNAH7 | c.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) | |
2 | g.195787140dup | CA2662432930 | DNAH7 | c.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 |
2 | g.195787141A>C | CA349933921 | DNAH7 | c.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) | |
2 | g.195787141A>G | CA349933923 | DNAH7 | c.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) | |
2 | g.195787141A>T | CA349933922 | DNAH7 | c.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) | |
2 | g.195787142C>A | CA430537422 | DNAH7 | c.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 |
2 | g.195787142C= | CA1318502121 | DNAH7 | c.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=) | |
2 | g.195787142C>G | CA430537420 | DNAH7 | c.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=) | |
2 | g.195787142C>T | CA2033952 | DNAH7 | c.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 |
2 | g.195787143A>C | CA349933924 | DNAH7 | c.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) | |
2 | g.195787143A>G | CA349933925 | DNAH7 | c.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 |
2 | g.195787143A>T | CA349933926 | DNAH7 | c.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) | |
2 | g.195787144G>A | CA430537427 | DNAH7 | c.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=) | |
2 | g.195787144G>C | CA349933927 | DNAH7 | c.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) | |
2 | g.195787144G>T | CA349933928 | DNAH7 | c.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) | |
2 | g.195787145G>A | CA430537432 | DNAH7 | c.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 |
2 | g.195787145G>C | CA430537433 | DNAH7 | c.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=) | |
2 | g.195787145G= | CA1318502140 | DNAH7 | c.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=) | |
2 | g.195787145G>T | CA430537435 | DNAH7 | c.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=) | |
2 | g.195787146C>A | CA349933929 | DNAH7 | c.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 |
2 | g.195787146C>G | CA349933930 | DNAH7 | c.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) | |
2 | g.195787146C>T | CA349933931 | DNAH7 | c.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 |
2 | g.195787147C>A | CA349933933 | DNAH7 | c.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) | |
2 | g.195787147C= | CA1318502143 | DNAH7 | c.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=) | |
2 | g.195787147C>G | CA349933932 | DNAH7 | c.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) | |
2 | g.195787147C>T | CA2033953 | DNAH7 | c.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 |
2 | g.195787148A= | CA1318502146 | DNAH7 | c.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=) | |
2 | g.195787148A>C | CA349933934 | DNAH7 | c.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 |
2 | g.195787148A>G | CA2033954 | DNAH7 | c.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 |
2 | g.195787148A>T | CA349933935 | DNAH7 | c.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) | |
2 | g.195787149T>A | CA349933936 | DNAH7 | c.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 |
2 | g.195787149T>C | CA2033955 | DNAH7 | c.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 |
2 | g.195787149T>G | CA349933937 | DNAH7 | c.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) | |
2 | g.195787149T= | CA1318502152 | DNAH7 | c.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=) | |
2 | g.195787150A>C | CA349933938 | DNAH7 | c.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) | |
2 | g.195787150A>G | CA349933939 | DNAH7 | c.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 |
2 | g.195787150A>T | CA349933940 | DNAH7 | c.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) | |
2 | g.195787151A>C | CA430537456 | DNAH7 | c.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=) | |
2 | g.195787151A>G | CA430537459 | DNAH7 | c.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=) | |
2 | g.195787151A>T | CA430537460 | DNAH7 | c.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=) | |
2 | g.195787152A>C | CA349933941 | DNAH7 | c.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) | |
2 | g.195787152A>G | CA349933942 | DNAH7 | c.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) | |
2 | g.195787152A>T | CA349933943 | DNAH7 | c.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) | |
2 | g.195787153G>A | CA2033956 | DNAH7 | c.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 |
2 | g.195787153G>C | CA349933945 | DNAH7 | c.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) | |
2 | g.195787153G= | CA1318502165 | DNAH7 | c.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=) | |
2 | g.195787153G>T | CA349933944 | DNAH7 | c.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) | |
2 | g.195787154C>A | CA349933946 | DNAH7 | c.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) | |
2 | g.195787154C= | CA1318502166 | DNAH7 | c.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=) | |
2 | g.195787154C>G | CA349933947 | DNAH7 | c.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 |
2 | g.195787154C>T | CA2033957 | DNAH7 | c.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 |
2 | g.195787155_195787160dup | CA2662432931 | DNAH7 | c.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 |
2 | g.195787155A>C | CA349933948 | DNAH7 | c.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) | |
2 | g.195787155A>G | CA349933949 | DNAH7 | c.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 |
2 | g.195787155A>T | CA349933950 | DNAH7 | c.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) | |
2 | g.195787156A>C | CA349933951 | DNAH7 | c.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) | |
2 | g.195787156A>G | CA430537478 | DNAH7 | c.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=) | |
2 | g.195787156A>T | CA349933952 | DNAH7 | c.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) | |
2 | g.195787157T>A | CA349933953 | DNAH7 | c.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) | |
2 | g.195787157T>C | CA430537483 | DNAH7 | c.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=) | |
2 | g.195787157T>G | CA349933954 | DNAH7 | c.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) | |
2 | g.195787158T>A | CA349933955 | DNAH7 | c.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) | |
2 | g.195787158T>C | CA349933956 | DNAH7 | c.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) | |
2 | g.195787158T>G | CA349933958 | DNAH7 | c.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) | |
2 | g.195787159T>A | CA349933962 | DNAH7 | c.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) | |
2 | g.195787159T>C | CA349933964 | DNAH7 | c.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) | |
2 | g.195787159T>G | CA349933961 | DNAH7 | c.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 |
2 | g.195787160C>A | CA349933967 | DNAH7 | c.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 |
2 | g.195787160C= | CA1318502170 | DNAH7 | c.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=) | |
2 | g.195787160C>G | CA349933968 | DNAH7 | c.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 |
2 | g.195787160C>T | CA430537492 | DNAH7 | c.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 |
2 | g.195787161T>A | CA349933971 | DNAH7 | c.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) | |
2 | g.195787161T>C | CA349933973 | DNAH7 | c.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 |
2 | g.195787161T>G | CA349933972 | DNAH7 | c.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) | |
2 | g.195787161T= | CA1318502172 | DNAH7 | c.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=) | |
2 | g.195787162T>A | CA349933976 | DNAH7 | c.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) | |
2 | g.195787162T>C | CA349933978 | DNAH7 | c.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) | |
2 | g.195787162T>G | CA349933977 | DNAH7 | c.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) | |
2 | g.195787163G>A | CA430537500 | DNAH7 | c.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=) | |
2 | g.195787163G>C | CA349933980 | DNAH7 | c.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 |
2 | g.195787163G= | CA1318502174 | DNAH7 | c.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=) | |
2 | g.195787163G>T | CA349933982 | DNAH7 | c.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 |
2 | g.195787164A>C | CA349933984 | DNAH7 | c.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 |
2 | g.195787164A>G | CA349933987 | DNAH7 | c.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) | |
2 | g.195787164A>T | CA349933986 | DNAH7 | c.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) | |
2 | g.195787165A= | CA1318502182 | DNAH7 | c.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=) | |
2 | g.195787165A>C | CA349933990 | DNAH7 | c.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) | |
2 | g.195787165A>G | CA349933994 | DNAH7 | c.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 |
2 | g.195787165A>T | CA349933992 | DNAH7 | c.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) | |
2 | g.195787166T>A | CA349933996 | DNAH7 | c.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 |
2 | g.195787166T>C | CA430537512 | DNAH7 | c.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=) | |
2 | g.195787166T>G | CA349933997 | DNAH7 | c.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) | |
2 | g.195787167T>A | CA349934000 | DNAH7 | c.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) | |
2 | g.195787167T>C | CA349934003 | DNAH7 | c.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) | |
2 | g.195787167T>G | CA349934001 | DNAH7 | c.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) | |
2 | g.195787168C>A | CA349934005 | DNAH7 | c.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) | |
2 | g.195787168C>G | CA349934008 | DNAH7 | c.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) | |
2 | g.195787168C>T | CA349934006 | DNAH7 | c.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) |