Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21880683_21880688delinsTTCTTC | CA1693712544 | DNAH11 | c.12196-19_12196-14delinsTTCTTC (n.12196-19_12196-14delinsTTCTTC) c.12217-19_12217-14delinsTTCTTC (n.12217-19_12217-14delinsTTCTTC) | |
7 | g.21880688_21880692del | CA4182999 | DNAH11 | c.12196-14_12196-10del (n.12196-14_12196-10del) c.12217-14_12217-10del (n.12217-14_12217-10del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880688C= | CA1693712548 | DNAH11 | c.12196-14C= (n.12196-14C=) c.12217-14C= (n.12217-14C=) | |
7 | g.21880688C>G | CA4183002 | DNAH11 | c.12196-14C>G (n.12196-14C>G) c.12217-14C>G (n.12217-14C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880688C>T | CA1693712550 | DNAH11 | c.12196-14C>T (n.12196-14C>T) c.12217-14C>T (n.12217-14C>T) | ClinVar dbSNP gnomAD v4 |
7 | g.21880690C= | CA1693712555 | DNAH11 | c.12196-12C= (n.12196-12C=) c.12217-12C= (n.12217-12C=) | |
7 | g.21880690C>G | CA4183003 | DNAH11 | c.12196-12C>G (n.12196-12C>G) c.12217-12C>G (n.12217-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880690C>T | CA4183004 | DNAH11 | c.12196-12C>T (n.12196-12C>T) c.12217-12C>T (n.12217-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880691T>C | CA573292954 | DNAH11 | c.12196-11T>C (n.12196-11T>C) c.12217-11T>C (n.12217-11T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880691T= | CA1693712558 | DNAH11 | c.12196-11T= (n.12196-11T=) c.12217-11T= (n.12217-11T=) | |
7 | g.21880696dup | CA4183005 | DNAH11 | c.12196-6dup (n.12196-6dup) c.12217-6dup (n.12217-6dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880696del | CA2739266282 | DNAH11 | c.12196-6del (n.12196-6del) c.12217-6del (n.12217-6del) | ClinVar |
7 | g.21880696T>C | CA4183006 | DNAH11 | c.12196-6T>C (n.12196-6T>C) c.12217-6T>C (n.12217-6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880696T= | CA1693712562 | DNAH11 | c.12196-6T= (n.12196-6T=) c.12217-6T= (n.12217-6T=) | |
7 | g.21880698C>A | CA4183007 | DNAH11 | c.12196-4C>A (n.12196-4C>A) c.12217-4C>A (n.12217-4C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880698C= | CA1693712565 | DNAH11 | c.12196-4C= (n.12196-4C=) c.12217-4C= (n.12217-4C=) | |
7 | g.21880699C= | CA1693712567 | DNAH11 | c.12196-3C= (n.12196-3C=) c.12217-3C= (n.12217-3C=) | |
7 | g.21880699C>G | CA573292958 | DNAH11 | c.12196-3C>G (n.12196-3C>G) c.12217-3C>G (n.12217-3C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880700A= | CA1693712571 | DNAH11 | c.12196-2A= (n.12196-2A=) c.12217-2A= (n.12217-2A=) | |
7 | g.21880700A>C | CA366963832 | DNAH11 | c.12196-2A>C (n.12196-2A>C) c.12217-2A>C (n.12217-2A>C) | |
7 | g.21880700A>G | CA366963833 | DNAH11 | c.12196-2A>G (n.12196-2A>G) c.12217-2A>G (n.12217-2A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.21880700A>T | CA366963834 | DNAH11 | c.12196-2A>T (n.12196-2A>T) c.12217-2A>T (n.12217-2A>T) | |
7 | g.21880701G>A | CA366963835 | DNAH11 | c.12196-1G>A (n.12196-1G>A) c.12217-1G>A (n.12217-1G>A) | |
7 | g.21880701G>C | CA366963837 | DNAH11 | c.12196-1G>C (n.12196-1G>C) c.12217-1G>C (n.12217-1G>C) | |
7 | g.21880701G>T | CA366963836 | DNAH11 | c.12196-1G>T (n.12196-1G>T) c.12217-1G>T (n.12217-1G>T) | COSMIC |
7 | g.21880702G>A | CA366963838 | DNAH11 | c.12196G>A (p.Asp4066Asn) c.12217G>A (p.Asp4073Asn) | gnomAD v4 |
7 | g.21880702G>C | CA4183008 | DNAH11 | c.12196G>C (p.Asp4066His) c.12217G>C (p.Asp4073His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880702G= | CA1693712575 | DNAH11 | c.12196G= (p.Asp4066=) c.12217G= (p.Asp4073=) | |
7 | g.21880702G>T | CA366963839 | DNAH11 | c.12196G>T (p.Asp4066Tyr) c.12217G>T (p.Asp4073Tyr) | |
7 | g.21880703A>C | CA366963840 | DNAH11 | c.12197A>C (p.Asp4066Ala) c.12218A>C (p.Asp4073Ala) | |
7 | g.21880703A>G | CA366963841 | DNAH11 | c.12197A>G (p.Asp4066Gly) c.12218A>G (p.Asp4073Gly) | |
7 | g.21880703A>T | CA366963842 | DNAH11 | c.12197A>T (p.Asp4066Val) c.12218A>T (p.Asp4073Val) | |
7 | g.21880704T>A | CA366963843 | DNAH11 | c.12198T>A (p.Asp4066Glu) c.12219T>A (p.Asp4073Glu) | |
7 | g.21880704T>C | CA453967834 | DNAH11 | c.12198T>C (p.Asp4066=) c.12219T>C (p.Asp4073=) | |
7 | g.21880704T>G | CA366963844 | DNAH11 | c.12198T>G (p.Asp4066Glu) c.12219T>G (p.Asp4073Glu) | |
7 | g.21880705A= | CA1693712578 | DNAH11 | c.12199A= (p.Thr4067=) c.12220A= (p.Thr4074=) | |
7 | g.21880705A>C | CA366963845 | DNAH11 | c.12199A>C (p.Thr4067Pro) c.12220A>C (p.Thr4074Pro) | |
7 | g.21880705A>G | CA366963846 | DNAH11 | c.12199A>G (p.Thr4067Ala) c.12220A>G (p.Thr4074Ala) | dbSNP |
7 | g.21880705A>T | CA366963847 | DNAH11 | c.12199A>T (p.Thr4067Ser) c.12220A>T (p.Thr4074Ser) | |
7 | g.21880706C>A | CA366963849 | DNAH11 | c.12200C>A (p.Thr4067Lys) c.12221C>A (p.Thr4074Lys) | |
7 | g.21880706C= | CA1693712580 | DNAH11 | c.12200C= (p.Thr4067=) c.12221C= (p.Thr4074=) | |
7 | g.21880706C>G | CA366963848 | DNAH11 | c.12200C>G (p.Thr4067Arg) c.12221C>G (p.Thr4074Arg) | |
7 | g.21880706C>T | CA155158551 | DNAH11 | c.12200C>T (p.Thr4067Ile) c.12221C>T (p.Thr4074Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880707A= | CA1693712585 | DNAH11 | c.12201A= (p.Thr4067=) c.12222A= (p.Thr4074=) | |
7 | g.21880707A>C | CA4183009 | DNAH11 | c.12201A>C (p.Thr4067=) c.12222A>C (p.Thr4074=) | dbSNP ExAC gnomAD v4 |
7 | g.21880707A>G | CA453967836 | DNAH11 | c.12201A>G (p.Thr4067=) c.12222A>G (p.Thr4074=) | dbSNP |
7 | g.21880707A>T | CA453967835 | DNAH11 | c.12201A>T (p.Thr4067=) c.12222A>T (p.Thr4074=) | |
7 | g.21880708C>A | CA366963850 | DNAH11 | c.12202C>A (p.Leu4068Ile) c.12223C>A (p.Leu4075Ile) | |
7 | g.21880708C= | CA1693712587 | DNAH11 | c.12202C= (p.Leu4068=) c.12223C= (p.Leu4075=) | |
7 | g.21880708C>G | CA366963851 | DNAH11 | c.12202C>G (p.Leu4068Val) c.12223C>G (p.Leu4075Val) | |
7 | g.21880708C>T | CA366963852 | DNAH11 | c.12202C>T (p.Leu4068Phe) c.12223C>T (p.Leu4075Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880709T>A | CA366963853 | DNAH11 | c.12203T>A (p.Leu4068His) c.12224T>A (p.Leu4075His) | |
7 | g.21880709T>C | CA366963854 | DNAH11 | c.12203T>C (p.Leu4068Pro) c.12224T>C (p.Leu4075Pro) | COSMIC COSMIC |
7 | g.21880709T>G | CA366963855 | DNAH11 | c.12203T>G (p.Leu4068Arg) c.12224T>G (p.Leu4075Arg) | gnomAD v4 |
7 | g.21880710T>A | CA453967837 | DNAH11 | c.12204T>A (p.Leu4068=) c.12225T>A (p.Leu4075=) | |
7 | g.21880710T>C | CA453967838 | DNAH11 | c.12204T>C (p.Leu4068=) c.12225T>C (p.Leu4075=) | |
7 | g.21880710T>G | CA453967839 | DNAH11 | c.12204T>G (p.Leu4068=) c.12225T>G (p.Leu4075=) | gnomAD v4 |
7 | g.21880711G>A | CA366963856 | DNAH11 | c.12205G>A (p.Glu4069Lys) c.12226G>A (p.Glu4076Lys) | |
7 | g.21880711G>C | CA4183010 | DNAH11 | c.12205G>C (p.Glu4069Gln) c.12226G>C (p.Glu4076Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880711G= | CA1693712590 | DNAH11 | c.12205G= (p.Glu4069=) c.12226G= (p.Glu4076=) | |
7 | g.21880711G>T | CA366963857 | DNAH11 | c.12205G>T (p.Glu4069Ter) c.12226G>T (p.Glu4076Ter) | |
7 | g.21880712A>C | CA366963858 | DNAH11 | c.12206A>C (p.Glu4069Ala) c.12227A>C (p.Glu4076Ala) | |
7 | g.21880712A>G | CA366963859 | DNAH11 | c.12206A>G (p.Glu4069Gly) c.12227A>G (p.Glu4076Gly) | COSMIC |
7 | g.21880712A>T | CA366963860 | DNAH11 | c.12206A>T (p.Glu4069Val) c.12227A>T (p.Glu4076Val) | |
7 | g.21880713A>C | CA366963861 | DNAH11 | c.12207A>C (p.Glu4069Asp) c.12228A>C (p.Glu4076Asp) | |
7 | g.21880713A>G | CA453967840 | DNAH11 | c.12207A>G (p.Glu4069=) c.12228A>G (p.Glu4076=) | |
7 | g.21880713A>T | CA366963862 | DNAH11 | c.12207A>T (p.Glu4069Asp) c.12228A>T (p.Glu4076Asp) | |
7 | g.21880714A= | CA1693712592 | DNAH11 | c.12208A= (p.Ile4070=) c.12229A= (p.Ile4077=) | |
7 | g.21880714A>C | CA366963863 | DNAH11 | c.12208A>C (p.Ile4070Leu) c.12229A>C (p.Ile4077Leu) | |
7 | g.21880714A>G | CA366963864 | DNAH11 | c.12208A>G (p.Ile4070Val) c.12229A>G (p.Ile4077Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880714A>T | CA366963865 | DNAH11 | c.12208A>T (p.Ile4070Leu) c.12229A>T (p.Ile4077Leu) | |
7 | g.21880715T>A | CA366963866 | DNAH11 | c.12209T>A (p.Ile4070Lys) c.12230T>A (p.Ile4077Lys) | |
7 | g.21880715T>C | CA366963867 | DNAH11 | c.12209T>C (p.Ile4070Thr) c.12230T>C (p.Ile4077Thr) | |
7 | g.21880715T>G | CA366963868 | DNAH11 | c.12209T>G (p.Ile4070Arg) c.12230T>G (p.Ile4077Arg) | |
7 | g.21880716A= | CA1693712593 | DNAH11 | c.12210A= (p.Ile4070=) c.12231A= (p.Ile4077=) | |
7 | g.21880716A>C | CA453967841 | DNAH11 | c.12210A>C (p.Ile4070=) c.12231A>C (p.Ile4077=) | |
7 | g.21880716A>G | CA366963869 | DNAH11 | c.12210A>G (p.Ile4070Met) c.12231A>G (p.Ile4077Met) | gnomAD v4 |
7 | g.21880716A>T | CA453967842 | DNAH11 | c.12210A>T (p.Ile4070=) c.12231A>T (p.Ile4077=) | |
7 | g.21880717T>A | CA366963870 | DNAH11 | c.12211T>A (p.Cys4071Ser) c.12232T>A (p.Cys4078Ser) | |
7 | g.21880717T>C | CA366963871 | DNAH11 | c.12211T>C (p.Cys4071Arg) c.12232T>C (p.Cys4078Arg) | dbSNP |
7 | g.21880717T>G | CA366963872 | DNAH11 | c.12211T>G (p.Cys4071Gly) c.12232T>G (p.Cys4078Gly) | |
7 | g.21880717T= | CA1693712597 | DNAH11 | c.12211T= (p.Cys4071=) c.12232T= (p.Cys4078=) | |
7 | g.21880717dup | CA4183011 | DNAH11 | c.12211dup (p.Cys4071LeufsTer8) c.12232dup (p.Cys4078LeufsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880718G>A | CA366963873 | DNAH11 | c.12212G>A (p.Cys4071Tyr) c.12233G>A (p.Cys4078Tyr) | |
7 | g.21880718G>C | CA366963874 | DNAH11 | c.12212G>C (p.Cys4071Ser) c.12233G>C (p.Cys4078Ser) | |
7 | g.21880718G= | CA1693712600 | DNAH11 | c.12212G= (p.Cys4071=) c.12233G= (p.Cys4078=) | |
7 | g.21880718G>T | CA4183012 | DNAH11 | c.12212G>T (p.Cys4071Phe) c.12233G>T (p.Cys4078Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880719C>A | CA366963876 | DNAH11 | c.12213C>A (p.Cys4071Ter) c.12234C>A (p.Cys4078Ter) | ClinVar dbSNP gnomAD v2 |
7 | g.21880719C= | CA1693712602 | DNAH11 | c.12213C= (p.Cys4071=) c.12234C= (p.Cys4078=) | |
7 | g.21880719C>G | CA366963875 | DNAH11 | c.12213C>G (p.Cys4071Trp) c.12234C>G (p.Cys4078Trp) | gnomAD v4 |
7 | g.21880719C>T | CA453967843 | DNAH11 | c.12213C>T (p.Cys4071=) c.12234C>T (p.Cys4078=) | |
7 | g.21880720T>A | CA366963877 | DNAH11 | c.12214T>A (p.Ser4072Thr) c.12235T>A (p.Ser4079Thr) | |
7 | g.21880720T>C | CA366963878 | DNAH11 | c.12214T>C (p.Ser4072Pro) c.12235T>C (p.Ser4079Pro) | dbSNP |
7 | g.21880720T>G | CA366963879 | DNAH11 | c.12214T>G (p.Ser4072Ala) c.12235T>G (p.Ser4079Ala) | |
7 | g.21880720T= | CA1693712606 | DNAH11 | c.12214T= (p.Ser4072=) c.12235T= (p.Ser4079=) | |
7 | g.21880721C>A | CA366963880 | DNAH11 | c.12215C>A (p.Ser4072Tyr) c.12236C>A (p.Ser4079Tyr) | |
7 | g.21880721C= | CA1693712607 | DNAH11 | c.12215C= (p.Ser4072=) c.12236C= (p.Ser4079=) | |
7 | g.21880721C>G | CA366963881 | DNAH11 | c.12215C>G (p.Ser4072Cys) c.12236C>G (p.Ser4079Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880721C>T | CA366963882 | DNAH11 | c.12215C>T (p.Ser4072Phe) c.12236C>T (p.Ser4079Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880722C>A | CA453967847 | DNAH11 | c.12216C>A (p.Ser4072=) c.12237C>A (p.Ser4079=) | |
7 | g.21880722C>G | CA453967846 | DNAH11 | c.12216C>G (p.Ser4072=) c.12237C>G (p.Ser4079=) | |
7 | g.21880722C>T | CA453967845 | DNAH11 | c.12216C>T (p.Ser4072=) c.12237C>T (p.Ser4079=) | ClinVar |
7 | g.21880723A>C | CA366963885 | DNAH11 | c.12217A>C (p.Lys4073Gln) c.12238A>C (p.Lys4080Gln) | |
7 | g.21880723A>G | CA366963883 | DNAH11 | c.12217A>G (p.Lys4073Glu) c.12238A>G (p.Lys4080Glu) | |
7 | g.21880723A>T | CA366963884 | DNAH11 | c.12217A>T (p.Lys4073Ter) c.12238A>T (p.Lys4080Ter) | |
7 | g.21880724A>C | CA366963886 | DNAH11 | c.12218A>C (p.Lys4073Thr) c.12239A>C (p.Lys4080Thr) | |
7 | g.21880724A>G | CA366963887 | DNAH11 | c.12218A>G (p.Lys4073Arg) c.12239A>G (p.Lys4080Arg) | gnomAD v4 |
7 | g.21880724A>T | CA366963888 | DNAH11 | c.12218A>T (p.Lys4073Met) c.12239A>T (p.Lys4080Met) | |
7 | g.21880725G>A | CA453967848 | DNAH11 | c.12219G>A (p.Lys4073=) c.12240G>A (p.Lys4080=) | gnomAD v4 COSMIC COSMIC |
7 | g.21880725G>C | CA366963889 | DNAH11 | c.12219G>C (p.Lys4073Asn) c.12240G>C (p.Lys4080Asn) | |
7 | g.21880725G>T | CA366963890 | DNAH11 | c.12219G>T (p.Lys4073Asn) c.12240G>T (p.Lys4080Asn) | |
7 | g.21880726G>A | CA366963891 | DNAH11 | c.12220G>A (p.Glu4074Lys) c.12241G>A (p.Glu4081Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880726G>C | CA366963893 | DNAH11 | c.12220G>C (p.Glu4074Gln) c.12241G>C (p.Glu4081Gln) | |
7 | g.21880726G= | CA1693712609 | DNAH11 | c.12220G= (p.Glu4074=) c.12241G= (p.Glu4081=) | |
7 | g.21880726G>T | CA366963892 | DNAH11 | c.12220G>T (p.Glu4074Ter) c.12241G>T (p.Glu4081Ter) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880727A>C | CA366963894 | DNAH11 | c.12221A>C (p.Glu4074Ala) c.12242A>C (p.Glu4081Ala) | |
7 | g.21880727A>G | CA366963895 | DNAH11 | c.12221A>G (p.Glu4074Gly) c.12242A>G (p.Glu4081Gly) | |
7 | g.21880727A>T | CA366963896 | DNAH11 | c.12221A>T (p.Glu4074Val) c.12242A>T (p.Glu4081Val) | |
7 | g.21880728G>A | CA453967849 | DNAH11 | c.12222G>A (p.Glu4074=) c.12243G>A (p.Glu4081=) | ClinVar gnomAD v4 |
7 | g.21880728G>C | CA366963897 | DNAH11 | c.12222G>C (p.Glu4074Asp) c.12243G>C (p.Glu4081Asp) | |
7 | g.21880728G>T | CA366963898 | DNAH11 | c.12222G>T (p.Glu4074Asp) c.12243G>T (p.Glu4081Asp) | |
7 | g.21880729C>A | CA366963899 | DNAH11 | c.12223C>A (p.Gln4075Lys) c.12244C>A (p.Gln4082Lys) | |
7 | g.21880729C>G | CA366963900 | DNAH11 | c.12223C>G (p.Gln4075Glu) c.12244C>G (p.Gln4082Glu) | |
7 | g.21880729C>T | CA366963901 | DNAH11 | c.12223C>T (p.Gln4075Ter) c.12244C>T (p.Gln4082Ter) | gnomAD v4 |
7 | g.21880730A= | CA1693712612 | DNAH11 | c.12224A= (p.Gln4075=) c.12245A= (p.Gln4082=) | |
7 | g.21880730A>C | CA366963902 | DNAH11 | c.12224A>C (p.Gln4075Pro) c.12245A>C (p.Gln4082Pro) | |
7 | g.21880730A>G | CA366963903 | DNAH11 | c.12224A>G (p.Gln4075Arg) c.12245A>G (p.Gln4082Arg) | |
7 | g.21880730A>T | CA4183013 | DNAH11 | c.12224A>T (p.Gln4075Leu) c.12245A>T (p.Gln4082Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880731G>A | CA453967850 | DNAH11 | c.12225G>A (p.Gln4075=) c.12246G>A (p.Gln4082=) | gnomAD v4 |
7 | g.21880731G>C | CA366963904 | DNAH11 | c.12225G>C (p.Gln4075His) c.12246G>C (p.Gln4082His) | |
7 | g.21880731G>T | CA366963905 | DNAH11 | c.12225G>T (p.Gln4075His) c.12246G>T (p.Gln4082His) | |
7 | g.21880732G>A | CA366963906 | DNAH11 | c.12226G>A (p.Glu4076Lys) c.12247G>A (p.Glu4083Lys) | gnomAD v4 |
7 | g.21880732G>C | CA155158573 | DNAH11 | c.12226G>C (p.Glu4076Gln) c.12247G>C (p.Glu4083Gln) | dbSNP gnomAD v4 |
7 | g.21880732G= | CA1693712615 | DNAH11 | c.12226G= (p.Glu4076=) c.12247G= (p.Glu4083=) | |
7 | g.21880732G>T | CA366963907 | DNAH11 | c.12226G>T (p.Glu4076Ter) c.12247G>T (p.Glu4083Ter) | |
7 | g.21880733del | CA2681992294 | DNAH11 | c.12227del (p.Glu4076GlyfsTer20) c.12248del (p.Glu4083GlyfsTer20) | gnomAD v4 |
7 | g.21880733A= | CA1693712620 | DNAH11 | c.12227A= (p.Glu4076=) c.12248A= (p.Glu4083=) | |
7 | g.21880733A>C | CA366963908 | DNAH11 | c.12227A>C (p.Glu4076Ala) c.12248A>C (p.Glu4083Ala) | |
7 | g.21880733A>G | CA366963909 | DNAH11 | c.12227A>G (p.Glu4076Gly) c.12248A>G (p.Glu4083Gly) | gnomAD v4 |
7 | g.21880733A>T | CA366963910 | DNAH11 | c.12227A>T (p.Glu4076Val) c.12248A>T (p.Glu4083Val) | dbSNP |
7 | g.21880734G>A | CA453967851 | DNAH11 | c.12228G>A (p.Glu4076=) c.12249G>A (p.Glu4083=) | gnomAD v4 |
7 | g.21880734G>C | CA366963911 | DNAH11 | c.12228G>C (p.Glu4076Asp) c.12249G>C (p.Glu4083Asp) | |
7 | g.21880734G>T | CA366963912 | DNAH11 | c.12228G>T (p.Glu4076Asp) c.12249G>T (p.Glu4083Asp) | |
7 | g.21880735T>A | CA366963913 | DNAH11 | c.12229T>A (p.Phe4077Ile) c.12250T>A (p.Phe4084Ile) | |
7 | g.21880735T>C | CA366963914 | DNAH11 | c.12229T>C (p.Phe4077Leu) c.12250T>C (p.Phe4084Leu) | |
7 | g.21880735T>G | CA366963915 | DNAH11 | c.12229T>G (p.Phe4077Val) c.12250T>G (p.Phe4084Val) | |
7 | g.21880736T>A | CA366963916 | DNAH11 | c.12230T>A (p.Phe4077Tyr) c.12251T>A (p.Phe4084Tyr) | |
7 | g.21880736T>C | CA366963917 | DNAH11 | c.12230T>C (p.Phe4077Ser) c.12251T>C (p.Phe4084Ser) | |
7 | g.21880736T>G | CA366963918 | DNAH11 | c.12230T>G (p.Phe4077Cys) c.12251T>G (p.Phe4084Cys) | |
7 | g.21880737T>A | CA366963920 | DNAH11 | c.12231T>A (p.Phe4077Leu) c.12252T>A (p.Phe4084Leu) | dbSNP |
7 | g.21880737T>C | CA453967852 | DNAH11 | c.12231T>C (p.Phe4077=) c.12252T>C (p.Phe4084=) | gnomAD v4 |
7 | g.21880737T>G | CA366963919 | DNAH11 | c.12231T>G (p.Phe4077Leu) c.12252T>G (p.Phe4084Leu) | |
7 | g.21880737T= | CA1693712622 | DNAH11 | c.12231T= (p.Phe4077=) c.12252T= (p.Phe4084=) | |
7 | g.21880738A= | CA1693712625 | DNAH11 | c.12232A= (p.Lys4078=) c.12253A= (p.Lys4085=) | |
7 | g.21880738A>C | CA366963921 | DNAH11 | c.12232A>C (p.Lys4078Gln) c.12253A>C (p.Lys4085Gln) | |
7 | g.21880738A>G | CA366963923 | DNAH11 | c.12232A>G (p.Lys4078Glu) c.12253A>G (p.Lys4085Glu) | |
7 | g.21880738A>T | CA366963922 | DNAH11 | c.12232A>T (p.Lys4078Ter) c.12253A>T (p.Lys4085Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.21880739A>C | CA366963924 | DNAH11 | c.12233A>C (p.Lys4078Thr) c.12254A>C (p.Lys4085Thr) | |
7 | g.21880739A>G | CA366963926 | DNAH11 | c.12233A>G (p.Lys4078Arg) c.12254A>G (p.Lys4085Arg) | |
7 | g.21880739A>T | CA366963925 | DNAH11 | c.12233A>T (p.Lys4078Ile) c.12254A>T (p.Lys4085Ile) | |
7 | g.21880740A>C | CA366963927 | DNAH11 | c.12234A>C (p.Lys4078Asn) c.12255A>C (p.Lys4085Asn) | |
7 | g.21880740A>G | CA453967853 | DNAH11 | c.12234A>G (p.Lys4078=) c.12255A>G (p.Lys4085=) | ClinVar gnomAD v4 |
7 | g.21880740A>T | CA366963928 | DNAH11 | c.12234A>T (p.Lys4078Asn) c.12255A>T (p.Lys4085Asn) | |
7 | g.21880741A>C | CA366963929 | DNAH11 | c.12235A>C (p.Ser4079Arg) c.12256A>C (p.Ser4086Arg) | |
7 | g.21880741A>G | CA366963930 | DNAH11 | c.12235A>G (p.Ser4079Gly) c.12256A>G (p.Ser4086Gly) | |
7 | g.21880741A>T | CA366963931 | DNAH11 | c.12235A>T (p.Ser4079Cys) c.12256A>T (p.Ser4086Cys) | gnomAD v4 |
7 | g.21880742G>A | CA4183014 | DNAH11 | c.12236G>A (p.Ser4079Asn) c.12257G>A (p.Ser4086Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880742G>C | CA366963932 | DNAH11 | c.12236G>C (p.Ser4079Thr) c.12257G>C (p.Ser4086Thr) | |
7 | g.21880742G= | CA1693712628 | DNAH11 | c.12236G= (p.Ser4079=) c.12257G= (p.Ser4086=) | |
7 | g.21880742G>T | CA366963933 | DNAH11 | c.12236G>T (p.Ser4079Ile) c.12257G>T (p.Ser4086Ile) | |
7 | g.21880743C>A | CA4183015 | DNAH11 | c.12237C>A (p.Ser4079Arg) c.12258C>A (p.Ser4086Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880743C= | CA1693712630 | DNAH11 | c.12237C= (p.Ser4079=) c.12258C= (p.Ser4086=) | |
7 | g.21880743C>G | CA366963934 | DNAH11 | c.12237C>G (p.Ser4079Arg) c.12258C>G (p.Ser4086Arg) | |
7 | g.21880743C>T | CA453967854 | DNAH11 | c.12237C>T (p.Ser4079=) c.12258C>T (p.Ser4086=) | gnomAD v4 |
7 | g.21880744A= | CA1693712634 | DNAH11 | c.12238A= (p.Ile4080=) c.12259A= (p.Ile4087=) | |
7 | g.21880744A>C | CA366963935 | DNAH11 | c.12238A>C (p.Ile4080Leu) c.12259A>C (p.Ile4087Leu) | |
7 | g.21880744A>G | CA366963936 | DNAH11 | c.12238A>G (p.Ile4080Val) c.12259A>G (p.Ile4087Val) | dbSNP |
7 | g.21880744A>T | CA366963937 | DNAH11 | c.12238A>T (p.Ile4080Phe) c.12259A>T (p.Ile4087Phe) | |
7 | g.21880745T>A | CA366963940 | DNAH11 | c.12239T>A (p.Ile4080Asn) c.12260T>A (p.Ile4087Asn) | gnomAD v4 |
7 | g.21880745T>C | CA366963939 | DNAH11 | c.12239T>C (p.Ile4080Thr) c.12260T>C (p.Ile4087Thr) | |
7 | g.21880745T>G | CA366963938 | DNAH11 | c.12239T>G (p.Ile4080Ser) c.12260T>G (p.Ile4087Ser) | gnomAD v4 |
7 | g.21880746C>A | CA453967855 | DNAH11 | c.12240C>A (p.Ile4080=) c.12261C>A (p.Ile4087=) | |
7 | g.21880746C= | CA1693712637 | DNAH11 | c.12240C= (p.Ile4080=) c.12261C= (p.Ile4087=) | |
7 | g.21880746C>G | CA366963941 | DNAH11 | c.12240C>G (p.Ile4080Met) c.12261C>G (p.Ile4087Met) | |
7 | g.21880746C>T | CA4183016 | DNAH11 | c.12240C>T (p.Ile4080=) c.12261C>T (p.Ile4087=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21880747C>A | CA366963942 | DNAH11 | c.12241C>A (p.Leu4081Ile) c.12262C>A (p.Leu4088Ile) | |
7 | g.21880747C= | CA1693712640 | DNAH11 | c.12241C= (p.Leu4081=) c.12262C= (p.Leu4088=) | |
7 | g.21880747C>G | CA366963943 | DNAH11 | c.12241C>G (p.Leu4081Val) c.12262C>G (p.Leu4088Val) | |
7 | g.21880747C>T | CA366963944 | DNAH11 | c.12241C>T (p.Leu4081Phe) c.12262C>T (p.Leu4088Phe) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880747_21880748delinsCT | CA1693712639 | DNAH11 | c.12241_12242delinsCT (p.Leu4081=) c.12262_12263delinsCT (p.Leu4088=) | |
7 | g.21880748T>A | CA366963945 | DNAH11 | c.12242T>A (p.Leu4081His) c.12263T>A (p.Leu4088His) | |
7 | g.21880748T>C | CA366963946 | DNAH11 | c.12242T>C (p.Leu4081Pro) c.12263T>C (p.Leu4088Pro) | gnomAD v4 |
7 | g.21880748T>G | CA366963947 | DNAH11 | c.12242T>G (p.Leu4081Arg) c.12263T>G (p.Leu4088Arg) | ClinVar dbSNP |
7 | g.21880748T= | CA1693712643 | DNAH11 | c.12242T= (p.Leu4081=) c.12263T= (p.Leu4088=) | |
7 | g.21880753dup | CA2681992295 | DNAH11 | c.12247dup (p.Ser4083PhefsTer27) c.12268dup (p.Ser4090PhefsTer27) | gnomAD v4 |
7 | g.21880753del | CA917961046 | DNAH11 | c.12247del (p.Ser4083LeufsTer13) c.12268del (p.Ser4090LeufsTer13) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21880749T>A | CA453967856 | DNAH11 | c.12243T>A (p.Leu4081=) c.12264T>A (p.Leu4088=) | |
7 | g.21880749T>C | CA453967857 | DNAH11 | c.12243T>C (p.Leu4081=) c.12264T>C (p.Leu4088=) | |
7 | g.21880749T>G | CA453967858 | DNAH11 | c.12243T>G (p.Leu4081=) c.12264T>G (p.Leu4088=) | |
7 | g.21880750T>A | CA366963948 | DNAH11 | c.12244T>A (p.Phe4082Ile) c.12265T>A (p.Phe4089Ile) | |
7 | g.21880750T>C | CA366963949 | DNAH11 | c.12244T>C (p.Phe4082Leu) c.12265T>C (p.Phe4089Leu) | |
7 | g.21880750T>G | CA366963950 | DNAH11 | c.12244T>G (p.Phe4082Val) c.12265T>G (p.Phe4089Val) | |
7 | g.21880751T>A | CA366963953 | DNAH11 | c.12245T>A (p.Phe4082Tyr) c.12266T>A (p.Phe4089Tyr) | |
7 | g.21880751T>C | CA366963952 | DNAH11 | c.12245T>C (p.Phe4082Ser) c.12266T>C (p.Phe4089Ser) | gnomAD v4 |
7 | g.21880751T>G | CA366963951 | DNAH11 | c.12245T>G (p.Phe4082Cys) c.12266T>G (p.Phe4089Cys) | |
7 | g.21880752T>A | CA366963954 | DNAH11 | c.12246T>A (p.Phe4082Leu) c.12267T>A (p.Phe4089Leu) | |
7 | g.21880752T>C | CA453967859 | DNAH11 | c.12246T>C (p.Phe4082=) c.12267T>C (p.Phe4089=) | dbSNP |
7 | g.21880752T>G | CA366963955 | DNAH11 | c.12246T>G (p.Phe4082Leu) c.12267T>G (p.Phe4089Leu) | |
7 | g.21880752T= | CA1693712645 | DNAH11 | c.12246T= (p.Phe4082=) c.12267T= (p.Phe4089=) | |
7 | g.21880752_21880754delinsTTC | CA1693712646 | DNAH11 | c.12246_12248delinsTTC (p.Phe4082=) c.12267_12269delinsTTC (p.Phe4089=) | |
7 | g.21880753T>A | CA366963956 | DNAH11 | c.12247T>A (p.Ser4083Thr) c.12268T>A (p.Ser4090Thr) | |
7 | g.21880753T>C | CA366963957 | DNAH11 | c.12247T>C (p.Ser4083Pro) c.12268T>C (p.Ser4090Pro) | dbSNP gnomAD v4 |
7 | g.21880753T>G | CA366963958 | DNAH11 | c.12247T>G (p.Ser4083Ala) c.12268T>G (p.Ser4090Ala) | |
7 | g.21880753T= | CA1693712649 | DNAH11 | c.12247T= (p.Ser4083=) c.12268T= (p.Ser4090=) | |
7 | g.21880758_21880759del | CA573292963 | DNAH11 | c.12252_12253del (p.Cys4085LeufsTer24) c.12273_12274del (p.Cys4092LeufsTer24) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21880754C>A | CA366963959 | DNAH11 | c.12248C>A (p.Ser4083Tyr) c.12269C>A (p.Ser4090Tyr) | |
7 | g.21880754C>G | CA366963960 | DNAH11 | c.12248C>G (p.Ser4083Cys) c.12269C>G (p.Ser4090Cys) | |
7 | g.21880754C>T | CA366963961 | DNAH11 | c.12248C>T (p.Ser4083Phe) c.12269C>T (p.Ser4090Phe) | COSMIC COSMIC |
7 | g.21880755T>A | CA4183017 | DNAH11 | c.12249T>A (p.Ser4083=) c.12270T>A (p.Ser4090=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21880755T>C | CA453967860 | DNAH11 | c.12249T>C (p.Ser4083=) c.12270T>C (p.Ser4090=) | ClinVar |
7 | g.21880755T>G | CA453967861 | DNAH11 | c.12249T>G (p.Ser4083=) c.12270T>G (p.Ser4090=) | |
7 | g.21880755T= | CA1693712654 | DNAH11 | c.12249T= (p.Ser4083=) c.12270T= (p.Ser4090=) | |
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 |