Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21880758_21880759del | CA573292963 | DNAH11 | c.12252_12253del (p.Cys4085LeufsTer24) c.12273_12274del (p.Cys4092LeufsTer24) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880756C>A | CA366963962 | DNAH11 | c.12250C>A (p.Leu4084Ile) c.12271C>A (p.Leu4091Ile) | |
7 | g.21880756C= | CA1693712658 | DNAH11 | c.12250C= (p.Leu4084=) c.12271C= (p.Leu4091=) | |
7 | g.21880756C>G | CA10582488 | DNAH11 | c.12250C>G (p.Leu4084Val) c.12271C>G (p.Leu4091Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880756C>T | CA366963963 | DNAH11 | c.12250C>T (p.Leu4084Phe) c.12271C>T (p.Leu4091Phe) | gnomAD v4 COSMIC COSMIC |
7 | g.21880757T>A | CA366963966 | DNAH11 | c.12251T>A (p.Leu4084His) c.12272T>A (p.Leu4091His) | |
7 | g.21880757T>C | CA366963964 | DNAH11 | c.12251T>C (p.Leu4084Pro) c.12272T>C (p.Leu4091Pro) | gnomAD v4 |
7 | g.21880757T>G | CA366963965 | DNAH11 | c.12251T>G (p.Leu4084Arg) c.12272T>G (p.Leu4091Arg) | |
7 | g.21880758C>A | CA453967862 | DNAH11 | c.12252C>A (p.Leu4084=) c.12273C>A (p.Leu4091=) | |
7 | g.21880758C>G | CA453967863 | DNAH11 | c.12252C>G (p.Leu4084=) c.12273C>G (p.Leu4091=) | ClinVar |
7 | g.21880758C>T | CA453967864 | DNAH11 | c.12252C>T (p.Leu4084=) c.12273C>T (p.Leu4091=) | gnomAD v4 |
7 | g.21880759T>A | CA366963967 | DNAH11 | c.12253T>A (p.Cys4085Ser) c.12274T>A (p.Cys4092Ser) | |
7 | g.21880759T>C | CA366963968 | DNAH11 | c.12253T>C (p.Cys4085Arg) c.12274T>C (p.Cys4092Arg) | |
7 | g.21880759T>G | CA366963969 | DNAH11 | c.12253T>G (p.Cys4085Gly) c.12274T>G (p.Cys4092Gly) | |
7 | g.21880760G>A | CA366963970 | DNAH11 | c.12254G>A (p.Cys4085Tyr) c.12275G>A (p.Cys4092Tyr) | |
7 | g.21880760G>C | CA366963971 | DNAH11 | c.12254G>C (p.Cys4085Ser) c.12275G>C (p.Cys4092Ser) | |
7 | g.21880760G= | CA1693712662 | DNAH11 | c.12254G= (p.Cys4085=) c.12275G= (p.Cys4092=) | |
7 | g.21880760G>T | CA366963972 | DNAH11 | c.12254G>T (p.Cys4085Phe) c.12275G>T (p.Cys4092Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21880761C>A | CA366963973 | DNAH11 | c.12255C>A (p.Cys4085Ter) c.12276C>A (p.Cys4092Ter) | |
7 | g.21880761C= | CA1693712664 | DNAH11 | c.12255C= (p.Cys4085=) c.12276C= (p.Cys4092=) | |
7 | g.21880761C>G | CA4183018 | DNAH11 | c.12255C>G (p.Cys4085Trp) c.12276C>G (p.Cys4092Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880761C>T | CA453967865 | DNAH11 | c.12255C>T (p.Cys4085=) c.12276C>T (p.Cys4092=) | |
7 | g.21880762T>A | CA366963974 | DNAH11 | c.12256T>A (p.Tyr4086Asn) c.12277T>A (p.Tyr4093Asn) | |
7 | g.21880762T>C | CA366963975 | DNAH11 | c.12256T>C (p.Tyr4086His) c.12277T>C (p.Tyr4093His) | dbSNP |
7 | g.21880762T>G | CA366963976 | DNAH11 | c.12256T>G (p.Tyr4086Asp) c.12277T>G (p.Tyr4093Asp) | |
7 | g.21880762T= | CA1693712667 | DNAH11 | c.12256T= (p.Tyr4086=) c.12277T= (p.Tyr4093=) | |
7 | g.21880763A>C | CA366963978 | DNAH11 | c.12257A>C (p.Tyr4086Ser) c.12278A>C (p.Tyr4093Ser) | |
7 | g.21880763A>G | CA366963979 | DNAH11 | c.12257A>G (p.Tyr4086Cys) c.12278A>G (p.Tyr4093Cys) | gnomAD v4 |
7 | g.21880763A>T | CA366963977 | DNAH11 | c.12257A>T (p.Tyr4086Phe) c.12278A>T (p.Tyr4093Phe) | gnomAD v4 |
7 | g.21880764C>A | CA366963981 | DNAH11 | c.12258C>A (p.Tyr4086Ter) c.12279C>A (p.Tyr4093Ter) | |
7 | g.21880764C= | CA1693712669 | DNAH11 | c.12258C= (p.Tyr4086=) c.12279C= (p.Tyr4093=) | |
7 | g.21880764C>G | CA366963980 | DNAH11 | c.12258C>G (p.Tyr4086Ter) c.12279C>G (p.Tyr4093Ter) | |
7 | g.21880764C>T | CA4183019 | DNAH11 | c.12258C>T (p.Tyr4086=) c.12279C>T (p.Tyr4093=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880765T>A | CA366963982 | DNAH11 | c.12259T>A (p.Phe4087Ile) c.12280T>A (p.Phe4094Ile) | gnomAD v4 |
7 | g.21880765T>C | CA366963983 | DNAH11 | c.12259T>C (p.Phe4087Leu) c.12280T>C (p.Phe4094Leu) | |
7 | g.21880765T>G | CA366963984 | DNAH11 | c.12259T>G (p.Phe4087Val) c.12280T>G (p.Phe4094Val) | |
7 | g.21880766T>A | CA366963985 | DNAH11 | c.12260T>A (p.Phe4087Tyr) c.12281T>A (p.Phe4094Tyr) | |
7 | g.21880766T>C | CA366963986 | DNAH11 | c.12260T>C (p.Phe4087Ser) c.12281T>C (p.Phe4094Ser) | |
7 | g.21880766T>G | CA366963987 | DNAH11 | c.12260T>G (p.Phe4087Cys) c.12281T>G (p.Phe4094Cys) | |
7 | g.21880767C>A | CA366963988 | DNAH11 | c.12261C>A (p.Phe4087Leu) c.12282C>A (p.Phe4094Leu) | |
7 | g.21880767C= | CA1693712673 | DNAH11 | c.12261C= (p.Phe4087=) c.12282C= (p.Phe4094=) | |
7 | g.21880767C>G | CA4183020 | DNAH11 | c.12261C>G (p.Phe4087Leu) c.12282C>G (p.Phe4094Leu) | dbSNP ExAC gnomAD v2 |
7 | g.21880767C>T | CA453967866 | DNAH11 | c.12261C>T (p.Phe4087=) c.12282C>T (p.Phe4094=) | gnomAD v4 |
7 | g.21880768C>A | CA366963989 | DNAH11 | c.12262C>A (p.His4088Asn) c.12283C>A (p.His4095Asn) | |
7 | g.21880768C= | CA1693712676 | DNAH11 | c.12262C= (p.His4088=) c.12283C= (p.His4095=) | |
7 | g.21880768C>G | CA366963990 | DNAH11 | c.12262C>G (p.His4088Asp) c.12283C>G (p.His4095Asp) | |
7 | g.21880768C>T | CA366963991 | DNAH11 | c.12262C>T (p.His4088Tyr) c.12283C>T (p.His4095Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880769A>C | CA366963992 | DNAH11 | c.12263A>C (p.His4088Pro) c.12284A>C (p.His4095Pro) | |
7 | g.21880769A>G | CA366963994 | DNAH11 | c.12263A>G (p.His4088Arg) c.12284A>G (p.His4095Arg) | |
7 | g.21880769A>T | CA366963993 | DNAH11 | c.12263A>T (p.His4088Leu) c.12284A>T (p.His4095Leu) | |
7 | g.21880770C>A | CA366963995 | DNAH11 | c.12264C>A (p.His4088Gln) c.12285C>A (p.His4095Gln) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880770C= | CA1693712682 | DNAH11 | c.12264C= (p.His4088=) c.12285C= (p.His4095=) | |
7 | g.21880770C>G | CA366963996 | DNAH11 | c.12264C>G (p.His4088Gln) c.12285C>G (p.His4095Gln) | ClinVar dbSNP |
7 | g.21880770C>T | CA4183021 | DNAH11 | c.12264C>T (p.His4088=) c.12285C>T (p.His4095=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880771G>A | CA155158696 | DNAH11 | c.12265G>A (p.Ala4089Thr) c.12286G>A (p.Ala4096Thr) | dbSNP gnomAD v4 COSMIC |
7 | g.21880771G>C | CA366963997 | DNAH11 | c.12265G>C (p.Ala4089Pro) c.12286G>C (p.Ala4096Pro) | |
7 | g.21880771G= | CA1693712688 | DNAH11 | c.12265G= (p.Ala4089=) c.12286G= (p.Ala4096=) | |
7 | g.21880771G>T | CA366963998 | DNAH11 | c.12265G>T (p.Ala4089Ser) c.12286G>T (p.Ala4096Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880772C>A | CA366963999 | DNAH11 | c.12266C>A (p.Ala4089Asp) c.12287C>A (p.Ala4096Asp) | |
7 | g.21880772C= | CA1693712691 | DNAH11 | c.12266C= (p.Ala4089=) c.12287C= (p.Ala4096=) | |
7 | g.21880772C>G | CA366964000 | DNAH11 | c.12266C>G (p.Ala4089Gly) c.12287C>G (p.Ala4096Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880772C>T | CA366964001 | DNAH11 | c.12266C>T (p.Ala4089Val) c.12287C>T (p.Ala4096Val) | COSMIC COSMIC |
7 | g.21880773C>A | CA453967867 | DNAH11 | c.12267C>A (p.Ala4089=) c.12288C>A (p.Ala4096=) | |
7 | g.21880773C= | CA1693712695 | DNAH11 | c.12267C= (p.Ala4089=) c.12288C= (p.Ala4096=) | |
7 | g.21880773C>G | CA4183022 | DNAH11 | c.12267C>G (p.Ala4089=) c.12288C>G (p.Ala4096=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880773C>T | CA4183023 | DNAH11 | c.12267C>T (p.Ala4089=) c.12288C>T (p.Ala4096=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880774T>A | CA366964003 | DNAH11 | c.12268T>A (p.Cys4090Ser) c.12289T>A (p.Cys4097Ser) | |
7 | g.21880774T>C | CA366964004 | DNAH11 | c.12268T>C (p.Cys4090Arg) c.12289T>C (p.Cys4097Arg) | |
7 | g.21880774T>G | CA366964002 | DNAH11 | c.12268T>G (p.Cys4090Gly) c.12289T>G (p.Cys4097Gly) | |
7 | g.21880775G>A | CA366964005 | DNAH11 | c.12269G>A (p.Cys4090Tyr) c.12290G>A (p.Cys4097Tyr) | |
7 | g.21880775G>C | CA366964006 | DNAH11 | c.12269G>C (p.Cys4090Ser) c.12290G>C (p.Cys4097Ser) | dbSNP |
7 | g.21880775G= | CA1693712699 | DNAH11 | c.12269G= (p.Cys4090=) c.12290G= (p.Cys4097=) | |
7 | g.21880775G>T | CA366964007 | DNAH11 | c.12269G>T (p.Cys4090Phe) c.12290G>T (p.Cys4097Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880776T>A | CA366964008 | DNAH11 | c.12270T>A (p.Cys4090Ter) c.12291T>A (p.Cys4097Ter) | |
7 | g.21880776T>C | CA453967869 | DNAH11 | c.12270T>C (p.Cys4090=) c.12291T>C (p.Cys4097=) | |
7 | g.21880776T>G | CA366964009 | DNAH11 | c.12270T>G (p.Cys4090Trp) c.12291T>G (p.Cys4097Trp) | |
7 | g.21880777G>A | CA366964012 | DNAH11 | c.12271G>A (p.Val4091Ile) c.12292G>A (p.Val4098Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880777G>C | CA366964011 | DNAH11 | c.12271G>C (p.Val4091Leu) c.12292G>C (p.Val4098Leu) | |
7 | g.21880777G= | CA1693712704 | DNAH11 | c.12271G= (p.Val4091=) c.12292G= (p.Val4098=) | |
7 | g.21880777G>T | CA366964010 | DNAH11 | c.12271G>T (p.Val4091Phe) c.12292G>T (p.Val4098Phe) | |
7 | g.21880778T>A | CA366964013 | DNAH11 | c.12272T>A (p.Val4091Asp) c.12293T>A (p.Val4098Asp) | |
7 | g.21880778T>C | CA366964014 | DNAH11 | c.12272T>C (p.Val4091Ala) c.12293T>C (p.Val4098Ala) | |
7 | g.21880778T>G | CA366964015 | DNAH11 | c.12272T>G (p.Val4091Gly) c.12293T>G (p.Val4098Gly) | |
7 | g.21880779T>A | CA453967871 | DNAH11 | c.12273T>A (p.Val4091=) c.12294T>A (p.Val4098=) | ClinVar |
7 | g.21880779T>C | CA453967872 | DNAH11 | c.12273T>C (p.Val4091=) c.12294T>C (p.Val4098=) | |
7 | g.21880779T>G | CA453967873 | DNAH11 | c.12273T>G (p.Val4091=) c.12294T>G (p.Val4098=) | |
7 | g.21880780G>A | CA366964016 | DNAH11 | c.12274G>A (p.Ala4092Thr) c.12295G>A (p.Ala4099Thr) | |
7 | g.21880780G>C | CA366964017 | DNAH11 | c.12274G>C (p.Ala4092Pro) c.12295G>C (p.Ala4099Pro) | |
7 | g.21880780G>T | CA366964018 | DNAH11 | c.12274G>T (p.Ala4092Ser) c.12295G>T (p.Ala4099Ser) | gnomAD v4 |
7 | g.21880781C>A | CA366964019 | DNAH11 | c.12275C>A (p.Ala4092Asp) c.12296C>A (p.Ala4099Asp) | dbSNP |
7 | g.21880781C= | CA1693712707 | DNAH11 | c.12275C= (p.Ala4092=) c.12296C= (p.Ala4099=) | |
7 | g.21880781C>G | CA366964021 | DNAH11 | c.12275C>G (p.Ala4092Gly) c.12296C>G (p.Ala4099Gly) | gnomAD v4 |
7 | g.21880781C>T | CA366964020 | DNAH11 | c.12275C>T (p.Ala4092Val) c.12296C>T (p.Ala4099Val) | |
7 | g.21880782T>A | CA453967875 | DNAH11 | c.12276T>A (p.Ala4092=) c.12297T>A (p.Ala4099=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880782T>C | CA453967876 | DNAH11 | c.12276T>C (p.Ala4092=) c.12297T>C (p.Ala4099=) | gnomAD v4 |
7 | g.21880782T>G | CA453967878 | DNAH11 | c.12276T>G (p.Ala4092=) c.12297T>G (p.Ala4099=) | |
7 | g.21880782T= | CA1693712710 | DNAH11 | c.12276T= (p.Ala4092=) c.12297T= (p.Ala4099=) | |
7 | g.21880783G>A | CA366964022 | DNAH11 | c.12277G>A (p.Gly4093Arg) c.12298G>A (p.Gly4100Arg) | |
7 | g.21880783G>C | CA4183024 | DNAH11 | c.12277G>C (p.Gly4093Arg) c.12298G>C (p.Gly4100Arg) | dbSNP ExAC gnomAD v2 |
7 | g.21880783G= | CA1693712712 | DNAH11 | c.12277G= (p.Gly4093=) c.12298G= (p.Gly4100=) | |
7 | g.21880783G>T | CA366964023 | DNAH11 | c.12277G>T (p.Gly4093Trp) c.12298G>T (p.Gly4100Trp) | |
7 | g.21880784G>A | CA366964024 | DNAH11 | c.12278G>A (p.Gly4093Glu) c.12299G>A (p.Gly4100Glu) | |
7 | g.21880784G>C | CA366964025 | DNAH11 | c.12278G>C (p.Gly4093Ala) c.12299G>C (p.Gly4100Ala) | |
7 | g.21880784G>T | CA366964026 | DNAH11 | c.12278G>T (p.Gly4093Val) c.12299G>T (p.Gly4100Val) | |
7 | g.21880785G>A | CA453967880 | DNAH11 | c.12279G>A (p.Gly4093=) c.12300G>A (p.Gly4100=) | |
7 | g.21880785G>C | CA453967881 | DNAH11 | c.12279G>C (p.Gly4093=) c.12300G>C (p.Gly4100=) | |
7 | g.21880785G>T | CA453967882 | DNAH11 | c.12279G>T (p.Gly4093=) c.12300G>T (p.Gly4100=) | |
7 | g.21880786A= | CA1693712714 | DNAH11 | c.12280A= (p.Arg4094=) c.12301A= (p.Arg4101=) | |
7 | g.21880786A>C | CA155158714 | DNAH11 | c.12280A>C (p.Arg4094=) c.12301A>C (p.Arg4101=) | dbSNP |
7 | g.21880786A>G | CA366964027 | DNAH11 | c.12280A>G (p.Arg4094Gly) c.12301A>G (p.Arg4101Gly) | COSMIC COSMIC |
7 | g.21880786A>T | CA366964028 | DNAH11 | c.12280A>T (p.Arg4094Ter) c.12301A>T (p.Arg4101Ter) | |
7 | g.21880787G>A | CA366964029 | DNAH11 | c.12281G>A (p.Arg4094Lys) c.12302G>A (p.Arg4101Lys) | gnomAD v4 |
7 | g.21880787G>C | CA366964030 | DNAH11 | c.12281G>C (p.Arg4094Thr) c.12302G>C (p.Arg4101Thr) | |
7 | g.21880787G= | CA1693712717 | DNAH11 | c.12281G= (p.Arg4094=) c.12302G= (p.Arg4101=) | |
7 | g.21880787G>T | CA366964031 | DNAH11 | c.12281G>T (p.Arg4094Ile) c.12302G>T (p.Arg4101Ile) | dbSNP gnomAD v4 |
7 | g.21880788A= | CA1693712722 | DNAH11 | c.12282A= (p.Arg4094=) c.12303A= (p.Arg4101=) | |
7 | g.21880788A>C | CA366964032 | DNAH11 | c.12282A>C (p.Arg4094Ser) c.12303A>C (p.Arg4101Ser) | |
7 | g.21880788A>G | CA453967883 | DNAH11 | c.12282A>G (p.Arg4094=) c.12303A>G (p.Arg4101=) | |
7 | g.21880788A>T | CA366964033 | DNAH11 | c.12282A>T (p.Arg4094Ser) c.12303A>T (p.Arg4101Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880789C>A | CA366964034 | DNAH11 | c.12283C>A (p.Leu4095Met) c.12304C>A (p.Leu4102Met) | |
7 | g.21880789C= | CA1693712724 | DNAH11 | c.12283C= (p.Leu4095=) c.12304C= (p.Leu4102=) | |
7 | g.21880789C>G | CA366964035 | DNAH11 | c.12283C>G (p.Leu4095Val) c.12304C>G (p.Leu4102Val) | gnomAD v4 |
7 | g.21880789C>T | CA453967884 | DNAH11 | c.12283C>T (p.Leu4095=) c.12304C>T (p.Leu4102=) | dbSNP gnomAD v4 |
7 | g.21880790T>A | CA366964036 | DNAH11 | c.12284T>A (p.Leu4095Gln) c.12305T>A (p.Leu4102Gln) | |
7 | g.21880790T>C | CA4183025 | DNAH11 | c.12284T>C (p.Leu4095Pro) c.12305T>C (p.Leu4102Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880790T>G | CA366964037 | DNAH11 | c.12284T>G (p.Leu4095Arg) c.12305T>G (p.Leu4102Arg) | dbSNP |
7 | g.21880790T= | CA1693712727 | DNAH11 | c.12284T= (p.Leu4095=) c.12305T= (p.Leu4102=) | |
7 | g.21880791G>A | CA4183026 | DNAH11 | c.12285G>A (p.Leu4095=) c.12306G>A (p.Leu4102=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.21880791G>C | CA453967885 | DNAH11 | c.12285G>C (p.Leu4095=) c.12306G>C (p.Leu4102=) | |
7 | g.21880791G= | CA1693712731 | DNAH11 | c.12285G= (p.Leu4095=) c.12306G= (p.Leu4102=) | |
7 | g.21880791G>T | CA453967886 | DNAH11 | c.12285G>T (p.Leu4095=) c.12306G>T (p.Leu4102=) | |
7 | g.21880792A>C | CA453967887 | DNAH11 | c.12286A>C (p.Arg4096=) c.12307A>C (p.Arg4103=) | |
7 | g.21880792A>G | CA366964038 | DNAH11 | c.12286A>G (p.Arg4096Gly) c.12307A>G (p.Arg4103Gly) | |
7 | g.21880792A>T | CA366964039 | DNAH11 | c.12286A>T (p.Arg4096Trp) c.12307A>T (p.Arg4103Trp) | |
7 | g.21880793G>A | CA366964040 | DNAH11 | c.12287G>A (p.Arg4096Lys) c.12308G>A (p.Arg4103Lys) | |
7 | g.21880793G>C | CA366964041 | DNAH11 | c.12287G>C (p.Arg4096Thr) c.12308G>C (p.Arg4103Thr) | gnomAD v4 |
7 | g.21880793G>T | CA366964042 | DNAH11 | c.12287G>T (p.Arg4096Met) c.12308G>T (p.Arg4103Met) | |
7 | g.21880794G>A | CA4183027 | DNAH11 | c.12288G>A (p.Arg4096=) c.12309G>A (p.Arg4103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880794G>C | CA366964043 | DNAH11 | c.12288G>C (p.Arg4096Ser) c.12309G>C (p.Arg4103Ser) | gnomAD v4 |
7 | g.21880794G= | CA1693712734 | DNAH11 | c.12288G= (p.Arg4096=) c.12309G= (p.Arg4103=) | |
7 | g.21880794G>T | CA4183028 | DNAH11 | c.12288G>T (p.Arg4096Ser) c.12309G>T (p.Arg4103Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880795T>A | CA366964044 | DNAH11 | c.12289T>A (p.Phe4097Ile) c.12310T>A (p.Phe4104Ile) | |
7 | g.21880795T>C | CA366964045 | DNAH11 | c.12289T>C (p.Phe4097Leu) c.12310T>C (p.Phe4104Leu) | |
7 | g.21880795T>G | CA366964046 | DNAH11 | c.12289T>G (p.Phe4097Val) c.12310T>G (p.Phe4104Val) | |
7 | g.21880796T>A | CA366964047 | DNAH11 | c.12290T>A (p.Phe4097Tyr) c.12311T>A (p.Phe4104Tyr) | |
7 | g.21880796T>C | CA366964048 | DNAH11 | c.12290T>C (p.Phe4097Ser) c.12311T>C (p.Phe4104Ser) | |
7 | g.21880796T>G | CA366964049 | DNAH11 | c.12290T>G (p.Phe4097Cys) c.12311T>G (p.Phe4104Cys) | |
7 | g.21880797T>A | CA366964050 | DNAH11 | c.12291T>A (p.Phe4097Leu) c.12312T>A (p.Phe4104Leu) | |
7 | g.21880797T>C | CA453967888 | DNAH11 | c.12291T>C (p.Phe4097=) c.12312T>C (p.Phe4104=) | dbSNP |
7 | g.21880797T>G | CA366964051 | DNAH11 | c.12291T>G (p.Phe4097Leu) c.12312T>G (p.Phe4104Leu) | |
7 | g.21880797T= | CA1693712738 | DNAH11 | c.12291T= (p.Phe4097=) c.12312T= (p.Phe4104=) | |
7 | g.21880798G>A | CA366964052 | DNAH11 | c.12292G>A (p.Gly4098Ser) c.12313G>A (p.Gly4105Ser) | |
7 | g.21880798G>C | CA366964053 | DNAH11 | c.12292G>C (p.Gly4098Arg) c.12313G>C (p.Gly4105Arg) | gnomAD v4 |
7 | g.21880798G>T | CA366964054 | DNAH11 | c.12292G>T (p.Gly4098Cys) c.12313G>T (p.Gly4105Cys) | gnomAD v4 |
7 | g.21880799G>A | CA366964055 | DNAH11 | c.12293G>A (p.Gly4098Asp) c.12314G>A (p.Gly4105Asp) | ClinVar dbSNP COSMIC COSMIC |
7 | g.21880799G>C | CA366964056 | DNAH11 | c.12293G>C (p.Gly4098Ala) c.12314G>C (p.Gly4105Ala) | |
7 | g.21880799G= | CA1693712741 | DNAH11 | c.12293G= (p.Gly4098=) c.12314G= (p.Gly4105=) | |
7 | g.21880799G>T | CA366964057 | DNAH11 | c.12293G>T (p.Gly4098Val) c.12314G>T (p.Gly4105Val) | |
7 | g.21880800C>A | CA453967889 | DNAH11 | c.12294C>A (p.Gly4098=) c.12315C>A (p.Gly4105=) | dbSNP |
7 | g.21880800C= | CA1693712745 | DNAH11 | c.12294C= (p.Gly4098=) c.12315C= (p.Gly4105=) | |
7 | g.21880800C>G | CA453967890 | DNAH11 | c.12294C>G (p.Gly4098=) c.12315C>G (p.Gly4105=) | |
7 | g.21880800C>T | CA453967891 | DNAH11 | c.12294C>T (p.Gly4098=) c.12315C>T (p.Gly4105=) | ClinVar gnomAD v4 |
7 | g.21880804dup | CA2832550415 | DNAH11 | c.12298dup (p.Gln4100ProfsTer10) c.12319dup (p.Gln4107ProfsTer10) | |
7 | g.21880801C>A | CA366964058 | DNAH11 | c.12295C>A (p.Pro4099Thr) c.12316C>A (p.Pro4106Thr) | dbSNP |
7 | g.21880801C= | CA1693712750 | DNAH11 | c.12295C= (p.Pro4099=) c.12316C= (p.Pro4106=) | |
7 | g.21880801C>G | CA366964059 | DNAH11 | c.12295C>G (p.Pro4099Ala) c.12316C>G (p.Pro4106Ala) | |
7 | g.21880801C>T | CA366964060 | DNAH11 | c.12295C>T (p.Pro4099Ser) c.12316C>T (p.Pro4106Ser) | gnomAD v4 |
7 | g.21880802C>A | CA366964061 | DNAH11 | c.12296C>A (p.Pro4099His) c.12317C>A (p.Pro4106His) | |
7 | g.21880802C= | CA1693712752 | DNAH11 | c.12296C= (p.Pro4099=) c.12317C= (p.Pro4106=) | |
7 | g.21880802C>G | CA4183029 | DNAH11 | c.12296C>G (p.Pro4099Arg) c.12317C>G (p.Pro4106Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880802C>T | CA366964062 | DNAH11 | c.12296C>T (p.Pro4099Leu) c.12317C>T (p.Pro4106Leu) | ClinVar gnomAD v4 |
7 | g.21880803C>A | CA453967892 | DNAH11 | c.12297C>A (p.Pro4099=) c.12318C>A (p.Pro4106=) | |
7 | g.21880803C>G | CA453967894 | DNAH11 | c.12297C>G (p.Pro4099=) c.12318C>G (p.Pro4106=) | |
7 | g.21880803C>T | CA453967895 | DNAH11 | c.12297C>T (p.Pro4099=) c.12318C>T (p.Pro4106=) | |
7 | g.21880804C>A | CA366964063 | DNAH11 | c.12298C>A (p.Gln4100Lys) c.12319C>A (p.Gln4107Lys) | gnomAD v4 |
7 | g.21880804C>G | CA366964065 | DNAH11 | c.12298C>G (p.Gln4100Glu) c.12319C>G (p.Gln4107Glu) | |
7 | g.21880804C>T | CA366964064 | DNAH11 | c.12298C>T (p.Gln4100Ter) c.12319C>T (p.Gln4107Ter) | |
7 | g.21880805A>C | CA366964066 | DNAH11 | c.12299A>C (p.Gln4100Pro) c.12320A>C (p.Gln4107Pro) | |
7 | g.21880805A>G | CA366964067 | DNAH11 | c.12299A>G (p.Gln4100Arg) c.12320A>G (p.Gln4107Arg) | |
7 | g.21880805A>T | CA366964068 | DNAH11 | c.12299A>T (p.Gln4100Leu) c.12320A>T (p.Gln4107Leu) | |
7 | g.21880806G>A | CA453967897 | DNAH11 | c.12300G>A (p.Gln4100=) c.12321G>A (p.Gln4107=) | dbSNP |
7 | g.21880806G>C | CA366964069 | DNAH11 | c.12300G>C (p.Gln4100His) c.12321G>C (p.Gln4107His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880806G= | CA1693712754 | DNAH11 | c.12300G= (p.Gln4100=) c.12321G= (p.Gln4107=) | |
7 | g.21880806G>T | CA366964070 | DNAH11 | c.12300G>T (p.Gln4100His) c.12321G>T (p.Gln4107His) | |
7 | g.21880807G>A | CA366964071 | DNAH11 | c.12301G>A (p.Gly4101Ser) c.12322G>A (p.Gly4108Ser) | gnomAD v4 |
7 | g.21880807G>C | CA366964072 | DNAH11 | c.12301G>C (p.Gly4101Arg) c.12322G>C (p.Gly4108Arg) | |
7 | g.21880807G>T | CA366964073 | DNAH11 | c.12301G>T (p.Gly4101Cys) c.12322G>T (p.Gly4108Cys) | |
7 | g.21880808G>A | CA4183030 | DNAH11 | c.12302G>A (p.Gly4101Asp) c.12323G>A (p.Gly4108Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21880808G>C | CA366964074 | DNAH11 | c.12302G>C (p.Gly4101Ala) c.12323G>C (p.Gly4108Ala) | |
7 | g.21880808G= | CA1693712758 | DNAH11 | c.12302G= (p.Gly4101=) c.12323G= (p.Gly4108=) | |
7 | g.21880808G>T | CA366964075 | DNAH11 | c.12302G>T (p.Gly4101Val) c.12323G>T (p.Gly4108Val) | |
7 | g.21880809C>A | CA453967899 | DNAH11 | c.12303C>A (p.Gly4101=) c.12324C>A (p.Gly4108=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880809C= | CA1693712762 | DNAH11 | c.12303C= (p.Gly4101=) c.12324C= (p.Gly4108=) | |
7 | g.21880809C>G | CA453967900 | DNAH11 | c.12303C>G (p.Gly4101=) c.12324C>G (p.Gly4108=) | gnomAD v4 |
7 | g.21880809C>T | CA453967901 | DNAH11 | c.12303C>T (p.Gly4101=) c.12324C>T (p.Gly4108=) | |
7 | g.21880810T>A | CA366964078 | DNAH11 | c.12304T>A (p.Trp4102Arg) c.12325T>A (p.Trp4109Arg) | |
7 | g.21880810T>C | CA366964077 | DNAH11 | c.12304T>C (p.Trp4102Arg) c.12325T>C (p.Trp4109Arg) | |
7 | g.21880810T>G | CA366964076 | DNAH11 | c.12304T>G (p.Trp4102Gly) c.12325T>G (p.Trp4109Gly) | dbSNP gnomAD v2 |
7 | g.21880810T= | CA1693712764 | DNAH11 | c.12304T= (p.Trp4102=) c.12325T= (p.Trp4109=) | |
7 | g.21880811G>A | CA366964079 | DNAH11 | c.12305G>A (p.Trp4102Ter) c.12326G>A (p.Trp4109Ter) | gnomAD v4 |
7 | g.21880811G>C | CA366964080 | DNAH11 | c.12305G>C (p.Trp4102Ser) c.12326G>C (p.Trp4109Ser) | |
7 | g.21880811G>T | CA366964081 | DNAH11 | c.12305G>T (p.Trp4102Leu) c.12326G>T (p.Trp4109Leu) | |
7 | g.21880812G>A | CA366964082 | DNAH11 | c.12306G>A (p.Trp4102Ter) c.12327G>A (p.Trp4109Ter) | COSMIC COSMIC |
7 | g.21880812G>C | CA366964083 | DNAH11 | c.12306G>C (p.Trp4102Cys) c.12327G>C (p.Trp4109Cys) | |
7 | g.21880812G>T | CA366964084 | DNAH11 | c.12306G>T (p.Trp4102Cys) c.12327G>T (p.Trp4109Cys) | |
7 | g.21880813A= | CA1693712767 | DNAH11 | c.12307A= (p.Ser4103=) c.12328A= (p.Ser4110=) | |
7 | g.21880813A>C | CA366964085 | DNAH11 | c.12307A>C (p.Ser4103Arg) c.12328A>C (p.Ser4110Arg) | |
7 | g.21880813A>G | CA366964086 | DNAH11 | c.12307A>G (p.Ser4103Gly) c.12328A>G (p.Ser4110Gly) | dbSNP gnomAD v4 |
7 | g.21880813A>T | CA366964087 | DNAH11 | c.12307A>T (p.Ser4103Cys) c.12328A>T (p.Ser4110Cys) | |
7 | g.21880814G>A | CA366964088 | DNAH11 | c.12308G>A (p.Ser4103Asn) c.12329G>A (p.Ser4110Asn) | |
7 | g.21880814G>C | CA366964089 | DNAH11 | c.12308G>C (p.Ser4103Thr) c.12329G>C (p.Ser4110Thr) | |
7 | g.21880814G>T | CA366964090 | DNAH11 | c.12308G>T (p.Ser4103Ile) c.12329G>T (p.Ser4110Ile) | |
7 | g.21880815C>A | CA366964092 | DNAH11 | c.12309C>A (p.Ser4103Arg) c.12330C>A (p.Ser4110Arg) | |
7 | g.21880815C= | CA1693712771 | DNAH11 | c.12309C= (p.Ser4103=) c.12330C= (p.Ser4110=) | |
7 | g.21880815C>G | CA366964091 | DNAH11 | c.12309C>G (p.Ser4103Arg) c.12330C>G (p.Ser4110Arg) | |
7 | g.21880815C>T | CA453967904 | DNAH11 | c.12309C>T (p.Ser4103=) c.12330C>T (p.Ser4110=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880816C>A | CA453967905 | DNAH11 | c.12310C>A (p.Arg4104=) c.12331C>A (p.Arg4111=) | dbSNP |
7 | g.21880816C= | CA1693712773 | DNAH11 | c.12310C= (p.Arg4104=) c.12331C= (p.Arg4111=) | |
7 | g.21880816C>G | CA366964093 | DNAH11 | c.12310C>G (p.Arg4104Gly) c.12331C>G (p.Arg4111Gly) | |
7 | g.21880816C>T | CA4183031 | DNAH11 | c.12310C>T (p.Arg4104Ter) c.12331C>T (p.Arg4111Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880817G>A | CA4183032 | DNAH11 | c.12311G>A (p.Arg4104Gln) c.12332G>A (p.Arg4111Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21880817G>C | CA366964094 | DNAH11 | c.12311G>C (p.Arg4104Pro) c.12332G>C (p.Arg4111Pro) | |
7 | g.21880817G= | CA1693712777 | DNAH11 | c.12311G= (p.Arg4104=) c.12332G= (p.Arg4111=) | |
7 | g.21880817G>T | CA366964095 | DNAH11 | c.12311G>T (p.Arg4104Leu) c.12332G>T (p.Arg4111Leu) | |
7 | g.21880818A>C | CA453967908 | DNAH11 | c.12312A>C (p.Arg4104=) c.12333A>C (p.Arg4111=) | |
7 | g.21880818A>G | CA453967911 | DNAH11 | c.12312A>G (p.Arg4104=) c.12333A>G (p.Arg4111=) | |
7 | g.21880818A>T | CA453967910 | DNAH11 | c.12312A>T (p.Arg4104=) c.12333A>T (p.Arg4111=) | |
7 | g.21880819_21880820insCTTCTGGACTCAA | CA2774682460 | DNAH11 | c.12313_12314insCTTCTGGACTCAA (p.Ser4105ThrfsTer9) c.12334_12335insCTTCTGGACTCAA (p.Ser4112ThrfsTer9) | |
7 | g.21880819A>C | CA366964096 | DNAH11 | c.12313A>C (p.Ser4105Arg) c.12334A>C (p.Ser4112Arg) | |
7 | g.21880819A>G | CA366964097 | DNAH11 | c.12313A>G (p.Ser4105Gly) c.12334A>G (p.Ser4112Gly) | |
7 | g.21880819A>T | CA366964098 | DNAH11 | c.12313A>T (p.Ser4105Cys) c.12334A>T (p.Ser4112Cys) | |
7 | g.21880820G>A | CA366964101 | DNAH11 | c.12314G>A (p.Ser4105Asn) c.12335G>A (p.Ser4112Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880820G>C | CA366964099 | DNAH11 | c.12314G>C (p.Ser4105Thr) c.12335G>C (p.Ser4112Thr) | |
7 | g.21880820G= | CA1693712780 | DNAH11 | c.12314G= (p.Ser4105=) c.12335G= (p.Ser4112=) | |
7 | g.21880820G>T | CA366964100 | DNAH11 | c.12314G>T (p.Ser4105Ile) c.12335G>T (p.Ser4112Ile) | |
7 | g.21880821C>A | CA366964102 | DNAH11 | c.12315C>A (p.Ser4105Arg) c.12336C>A (p.Ser4112Arg) | |
7 | g.21880821C>G | CA366964103 | DNAH11 | c.12315C>G (p.Ser4105Arg) c.12336C>G (p.Ser4112Arg) | |
7 | g.21880821C>T | CA453967916 | DNAH11 | c.12315C>T (p.Ser4105=) c.12336C>T (p.Ser4112=) | |
7 | g.21880822T>A | CA366964104 | DNAH11 | c.12316T>A (p.Tyr4106Asn) c.12337T>A (p.Tyr4113Asn) | |
7 | g.21880822T>C | CA366964105 | DNAH11 | c.12316T>C (p.Tyr4106His) c.12337T>C (p.Tyr4113His) | |
7 | g.21880822T>G | CA366964106 | DNAH11 | c.12316T>G (p.Tyr4106Asp) c.12337T>G (p.Tyr4113Asp) | |
7 | g.21880823A= | CA1693712784 | DNAH11 | c.12317A= (p.Tyr4106=) c.12338A= (p.Tyr4113=) | |
7 | g.21880823A>C | CA366964107 | DNAH11 | c.12317A>C (p.Tyr4106Ser) c.12338A>C (p.Tyr4113Ser) | dbSNP |
7 | g.21880823A>G | CA4183034 | DNAH11 | c.12317A>G (p.Tyr4106Cys) c.12338A>G (p.Tyr4113Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880823A>T | CA4183033 | DNAH11 | c.12317A>T (p.Tyr4106Phe) c.12338A>T (p.Tyr4113Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880824T>A | CA366964108 | DNAH11 | c.12318T>A (p.Tyr4106Ter) c.12339T>A (p.Tyr4113Ter) | |
7 | g.21880824T>C | CA453967918 | DNAH11 | c.12318T>C (p.Tyr4106=) c.12339T>C (p.Tyr4113=) | |
7 | g.21880824T>G | CA366964109 | DNAH11 | c.12318T>G (p.Tyr4106Ter) c.12339T>G (p.Tyr4113Ter) | |
7 | g.21880825C>A | CA366964110 | DNAH11 | c.12319C>A (p.Pro4107Thr) c.12340C>A (p.Pro4114Thr) | dbSNP |
7 | g.21880825C= | CA1693712787 | DNAH11 | c.12319C= (p.Pro4107=) c.12340C= (p.Pro4114=) | |
7 | g.21880825C>G | CA4183035 | DNAH11 | c.12319C>G (p.Pro4107Ala) c.12340C>G (p.Pro4114Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880825C>T | CA366964111 | DNAH11 | c.12319C>T (p.Pro4107Ser) c.12340C>T (p.Pro4114Ser) | |
7 | g.21880826C>A | CA366964112 | DNAH11 | c.12320C>A (p.Pro4107His) c.12341C>A (p.Pro4114His) | gnomAD v4 |
7 | g.21880826C>G | CA366964113 | DNAH11 | c.12320C>G (p.Pro4107Arg) c.12341C>G (p.Pro4114Arg) | |
7 | g.21880826C>T | CA366964114 | DNAH11 | c.12320C>T (p.Pro4107Leu) c.12341C>T (p.Pro4114Leu) | |
7 | g.21880827T>A | CA453967919 | DNAH11 | c.12321T>A (p.Pro4107=) c.12342T>A (p.Pro4114=) | |
7 | g.21880827T>C | CA453967920 | DNAH11 | c.12321T>C (p.Pro4107=) c.12342T>C (p.Pro4114=) | |
7 | g.21880827T>G | CA453967922 | DNAH11 | c.12321T>G (p.Pro4107=) c.12342T>G (p.Pro4114=) | |
7 | g.21880828T>A | CA366964115 | DNAH11 | c.12322T>A (p.Phe4108Ile) c.12343T>A (p.Phe4115Ile) | |
7 | g.21880828T>C | CA366964116 | DNAH11 | c.12322T>C (p.Phe4108Leu) c.12343T>C (p.Phe4115Leu) | |
7 | g.21880828T>G | CA366964117 | DNAH11 | c.12322T>G (p.Phe4108Val) c.12343T>G (p.Phe4115Val) | |
7 | g.21880829T>A | CA366964120 | DNAH11 | c.12323T>A (p.Phe4108Tyr) c.12344T>A (p.Phe4115Tyr) | |
7 | g.21880829T>C | CA366964119 | DNAH11 | c.12323T>C (p.Phe4108Ser) c.12344T>C (p.Phe4115Ser) | |
7 | g.21880829T>G | CA366964118 | DNAH11 | c.12323T>G (p.Phe4108Cys) c.12344T>G (p.Phe4115Cys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880829T= | CA1693712790 | DNAH11 | c.12323T= (p.Phe4108=) c.12344T= (p.Phe4115=) | |
7 | g.21880830T>A | CA366964121 | DNAH11 | c.12324T>A (p.Phe4108Leu) c.12345T>A (p.Phe4115Leu) | |
7 | g.21880830T>C | CA453967923 | DNAH11 | c.12324T>C (p.Phe4108=) c.12345T>C (p.Phe4115=) | |
7 | g.21880830T>G | CA366964122 | DNAH11 | c.12324T>G (p.Phe4108Leu) c.12345T>G (p.Phe4115Leu) | |
7 | g.21880831A>C | CA366964123 | DNAH11 | c.12325A>C (p.Asn4109His) c.12346A>C (p.Asn4116His) | |
7 | g.21880831A>G | CA366964124 | DNAH11 | c.12325A>G (p.Asn4109Asp) c.12346A>G (p.Asn4116Asp) | |
7 | g.21880831A>T | CA366964125 | DNAH11 | c.12325A>T (p.Asn4109Tyr) c.12346A>T (p.Asn4116Tyr) | |
7 | g.21880832A>C | CA366964126 | DNAH11 | c.12326A>C (p.Asn4109Thr) c.12347A>C (p.Asn4116Thr) | |
7 | g.21880832A>G | CA366964127 | DNAH11 | c.12326A>G (p.Asn4109Ser) c.12347A>G (p.Asn4116Ser) | |
7 | g.21880832A>T | CA366964128 | DNAH11 | c.12326A>T (p.Asn4109Ile) c.12347A>T (p.Asn4116Ile) | |
7 | g.21880833T>A | CA366964129 | DNAH11 | c.12327T>A (p.Asn4109Lys) c.12348T>A (p.Asn4116Lys) | |
7 | g.21880833T>C | CA453967924 | DNAH11 | c.12327T>C (p.Asn4109=) c.12348T>C (p.Asn4116=) | |
7 | g.21880833T>G | CA366964130 | DNAH11 | c.12327T>G (p.Asn4109Lys) c.12348T>G (p.Asn4116Lys) | |
7 | g.21880834C>A | CA4183036 | DNAH11 | c.12328C>A (p.Pro4110Thr) c.12349C>A (p.Pro4117Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880834C= | CA1693712795 | DNAH11 | c.12328C= (p.Pro4110=) c.12349C= (p.Pro4117=) | |
7 | g.21880834C>G | CA366964131 | DNAH11 | c.12328C>G (p.Pro4110Ala) c.12349C>G (p.Pro4117Ala) | gnomAD v4 |
7 | g.21880834C>T | CA366964132 | DNAH11 | c.12328C>T (p.Pro4110Ser) c.12349C>T (p.Pro4117Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880835C>A | CA4183037 | DNAH11 | c.12329C>A (p.Pro4110His) c.12350C>A (p.Pro4117His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880835C= | CA1693712801 | DNAH11 | c.12329C= (p.Pro4110=) c.12350C= (p.Pro4117=) | |
7 | g.21880835C>G | CA366964133 | DNAH11 | c.12329C>G (p.Pro4110Arg) c.12350C>G (p.Pro4117Arg) | |
7 | g.21880835C>T | CA366964134 | DNAH11 | c.12329C>T (p.Pro4110Leu) c.12350C>T (p.Pro4117Leu) | ClinVar gnomAD v4 |
7 | g.21880836T>A | CA453967926 | DNAH11 | c.12330T>A (p.Pro4110=) c.12351T>A (p.Pro4117=) | |
7 | g.21880836T>C | CA453967928 | DNAH11 | c.12330T>C (p.Pro4110=) c.12351T>C (p.Pro4117=) | |
7 | g.21880836T>G | CA453967929 | DNAH11 | c.12330T>G (p.Pro4110=) c.12351T>G (p.Pro4117=) | |
7 | g.21880837G>A | CA366964135 | DNAH11 | c.12331G>A (p.Gly4111Arg) c.12352G>A (p.Gly4118Arg) | COSMIC COSMIC |
7 | g.21880837G>C | CA366964136 | DNAH11 | c.12331G>C (p.Gly4111Arg) c.12352G>C (p.Gly4118Arg) | |
7 | g.21880837G>T | CA366964137 | DNAH11 | c.12331G>T (p.Gly4111Ter) c.12352G>T (p.Gly4118Ter) | |
7 | g.21880838G>A | CA366964138 | DNAH11 | c.12332G>A (p.Gly4111Glu) c.12353G>A (p.Gly4118Glu) | gnomAD v4 |
7 | g.21880838G>C | CA366964139 | DNAH11 | c.12332G>C (p.Gly4111Ala) c.12353G>C (p.Gly4118Ala) | |
7 | g.21880838G>T | CA366964140 | DNAH11 | c.12332G>T (p.Gly4111Val) c.12353G>T (p.Gly4118Val) | |
7 | g.21880839A>C | CA453967934 | DNAH11 | c.12333A>C (p.Gly4111=) c.12354A>C (p.Gly4118=) | |
7 | g.21880839A>G | CA453967932 | DNAH11 | c.12333A>G (p.Gly4111=) c.12354A>G (p.Gly4118=) | ClinVar dbSNP gnomAD v4 |
7 | g.21880839A>T | CA453967933 | DNAH11 | c.12333A>T (p.Gly4111=) c.12354A>T (p.Gly4118=) | |
7 | g.21880840G>A | CA366964141 | DNAH11 | c.12334G>A (p.Asp4112Asn) c.12355G>A (p.Asp4119Asn) | |
7 | g.21880840G>C | CA4183038 | DNAH11 | c.12334G>C (p.Asp4112His) c.12355G>C (p.Asp4119His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880840G= | CA1693712803 | DNAH11 | c.12334G= (p.Asp4112=) c.12355G= (p.Asp4119=) | |
7 | g.21880840G>T | CA366964142 | DNAH11 | c.12334G>T (p.Asp4112Tyr) c.12355G>T (p.Asp4119Tyr) | gnomAD v4 |
7 | g.21880841A>C | CA366964143 | DNAH11 | c.12335A>C (p.Asp4112Ala) c.12356A>C (p.Asp4119Ala) | |
7 | g.21880841A>G | CA366964144 | DNAH11 | c.12335A>G (p.Asp4112Gly) c.12356A>G (p.Asp4119Gly) | |
7 | g.21880841A>T | CA366964145 | DNAH11 | c.12335A>T (p.Asp4112Val) c.12356A>T (p.Asp4119Val) | |
7 | g.21880842C>A | CA366964146 | DNAH11 | c.12336C>A (p.Asp4112Glu) c.12357C>A (p.Asp4119Glu) | |
7 | g.21880842C= | CA1693712806 | DNAH11 | c.12336C= (p.Asp4112=) c.12357C= (p.Asp4119=) | |
7 | g.21880842C>G | CA10628859 | DNAH11 | c.12336C>G (p.Asp4112Glu) c.12357C>G (p.Asp4119Glu) | ClinVar dbSNP gnomAD v4 |
7 | g.21880842C>T | CA4183039 | DNAH11 | c.12336C>T (p.Asp4112=) c.12357C>T (p.Asp4119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880843C>A | CA366964147 | DNAH11 | c.12337C>A (p.Leu4113Ile) c.12358C>A (p.Leu4120Ile) | |
7 | g.21880843C= | CA1693712810 | DNAH11 | c.12337C= (p.Leu4113=) c.12358C= (p.Leu4120=) | |
7 | g.21880843C>G | CA366964149 | DNAH11 | c.12337C>G (p.Leu4113Val) c.12358C>G (p.Leu4120Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880843C>T | CA366964148 | DNAH11 | c.12337C>T (p.Leu4113Phe) c.12358C>T (p.Leu4120Phe) | dbSNP gnomAD v4 |
7 | g.21880844T>A | CA366964150 | DNAH11 | c.12338T>A (p.Leu4113His) c.12359T>A (p.Leu4120His) | |
7 | g.21880844T>C | CA366964152 | DNAH11 | c.12338T>C (p.Leu4113Pro) c.12359T>C (p.Leu4120Pro) | |
7 | g.21880844T>G | CA366964151 | DNAH11 | c.12338T>G (p.Leu4113Arg) c.12359T>G (p.Leu4120Arg) | |
7 | g.21880845C>A | CA453967937 | DNAH11 | c.12339C>A (p.Leu4113=) c.12360C>A (p.Leu4120=) | gnomAD v4 |
7 | g.21880845C>G | CA453967939 | DNAH11 | c.12339C>G (p.Leu4113=) c.12360C>G (p.Leu4120=) | |
7 | g.21880845C>T | CA453967938 | DNAH11 | c.12339C>T (p.Leu4113=) c.12360C>T (p.Leu4120=) | ClinVar |
7 | g.21880846A>C | CA366964153 | DNAH11 | c.12340A>C (p.Thr4114Pro) c.12361A>C (p.Thr4121Pro) | |
7 | g.21880846A>G | CA366964155 | DNAH11 | c.12340A>G (p.Thr4114Ala) c.12361A>G (p.Thr4121Ala) | COSMIC COSMIC |
7 | g.21880846A>T | CA366964154 | DNAH11 | c.12340A>T (p.Thr4114Ser) c.12361A>T (p.Thr4121Ser) | |
7 | g.21880847C>A | CA366964156 | DNAH11 | c.12341C>A (p.Thr4114Asn) c.12362C>A (p.Thr4121Asn) | |
7 | g.21880847C>G | CA366964158 | DNAH11 | c.12341C>G (p.Thr4114Ser) c.12362C>G (p.Thr4121Ser) | gnomAD v4 |
7 | g.21880847C>T | CA366964157 | DNAH11 | c.12341C>T (p.Thr4114Ile) c.12362C>T (p.Thr4121Ile) | |
7 | g.21880848C>A | CA453967940 | DNAH11 | c.12342C>A (p.Thr4114=) c.12363C>A (p.Thr4121=) | |
7 | g.21880848C>G | CA453967941 | DNAH11 | c.12342C>G (p.Thr4114=) c.12363C>G (p.Thr4121=) | |
7 | g.21880848C>T | CA453967942 | DNAH11 | c.12342C>T (p.Thr4114=) c.12363C>T (p.Thr4121=) | |
7 | g.21880849A>C | CA366964159 | DNAH11 | c.12343A>C (p.Ile4115Leu) c.12364A>C (p.Ile4122Leu) | |
7 | g.21880849A>G | CA366964160 | DNAH11 | c.12343A>G (p.Ile4115Val) c.12364A>G (p.Ile4122Val) | gnomAD v4 |
7 | g.21880849A>T | CA366964161 | DNAH11 | c.12343A>T (p.Ile4115Phe) c.12364A>T (p.Ile4122Phe) | |
7 | g.21880850T>A | CA366964162 | DNAH11 | c.12344T>A (p.Ile4115Asn) c.12365T>A (p.Ile4122Asn) | |
7 | g.21880850T>C | CA4183041 | DNAH11 | c.12344T>C (p.Ile4115Thr) c.12365T>C (p.Ile4122Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880850T>G | CA4183040 | DNAH11 | c.12344T>G (p.Ile4115Ser) c.12365T>G (p.Ile4122Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880850T= | CA1693712813 | DNAH11 | c.12344T= (p.Ile4115=) c.12365T= (p.Ile4122=) | |
7 | g.21880851T>A | CA453967944 | DNAH11 | c.12345T>A (p.Ile4115=) c.12366T>A (p.Ile4122=) | |
7 | g.21880851T>C | CA453967945 | DNAH11 | c.12345T>C (p.Ile4115=) c.12366T>C (p.Ile4122=) | |
7 | g.21880851T>G | CA366964163 | DNAH11 | c.12345T>G (p.Ile4115Met) c.12366T>G (p.Ile4122Met) | |
7 | g.21880852T>A | CA366964164 | DNAH11 | c.12346T>A (p.Cys4116Ser) c.12367T>A (p.Cys4123Ser) | |
7 | g.21880852T>C | CA366964165 | DNAH11 | c.12346T>C (p.Cys4116Arg) c.12367T>C (p.Cys4123Arg) | |
7 | g.21880852T>G | CA366964166 | DNAH11 | c.12346T>G (p.Cys4116Gly) c.12367T>G (p.Cys4123Gly) | gnomAD v4 |
7 | g.21880853G>A | CA366964169 | DNAH11 | c.12347G>A (p.Cys4116Tyr) c.12368G>A (p.Cys4123Tyr) | |
7 | g.21880853G>C | CA366964168 | DNAH11 | c.12347G>C (p.Cys4116Ser) c.12368G>C (p.Cys4123Ser) | |
7 | g.21880853G>T | CA366964167 | DNAH11 | c.12347G>T (p.Cys4116Phe) c.12368G>T (p.Cys4123Phe) | |
7 | g.21880854T>A | CA366964170 | DNAH11 | c.12348T>A (p.Cys4116Ter) c.12369T>A (p.Cys4123Ter) | |
7 | g.21880854T>C | CA453967946 | DNAH11 | c.12348T>C (p.Cys4116=) c.12369T>C (p.Cys4123=) | |
7 | g.21880854T>G | CA366964171 | DNAH11 | c.12348T>G (p.Cys4116Trp) c.12369T>G (p.Cys4123Trp) | |
7 | g.21880855G>A | CA366964172 | DNAH11 | c.12349G>A (p.Ala4117Thr) c.12370G>A (p.Ala4124Thr) | |
7 | g.21880855G>C | CA366964173 | DNAH11 | c.12349G>C (p.Ala4117Pro) c.12370G>C (p.Ala4124Pro) | |
7 | g.21880855G= | CA1693712817 | DNAH11 | c.12349G= (p.Ala4117=) c.12370G= (p.Ala4124=) | |
7 | g.21880855G>T | CA366964174 | DNAH11 | c.12349G>T (p.Ala4117Ser) c.12370G>T (p.Ala4124Ser) | dbSNP |
7 | g.21880856C>A | CA366964175 | DNAH11 | c.12350C>A (p.Ala4117Asp) c.12371C>A (p.Ala4124Asp) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880856C= | CA1693712822 | DNAH11 | c.12350C= (p.Ala4117=) c.12371C= (p.Ala4124=) | |
7 | g.21880856C>G | CA366964176 | DNAH11 | c.12350C>G (p.Ala4117Gly) c.12371C>G (p.Ala4124Gly) | |
7 | g.21880856C>T | CA155158818 | DNAH11 | c.12350C>T (p.Ala4117Val) c.12371C>T (p.Ala4124Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |