Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21704463T>A | CA4180778 | DNAH11 | c.6303T>A (p.Asn2101Lys) c.6324T>A (p.Asn2108Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704463T>C | CA155076533 | DNAH11 | c.6303T>C (p.Asn2101=) c.6324T>C (p.Asn2108=) | ClinVar dbSNP gnomAD v4 |
7 | g.21704463T>G | CA366936924 | DNAH11 | c.6303T>G (p.Asn2101Lys) c.6324T>G (p.Asn2108Lys) | |
7 | g.21704463T= | CA1693624672 | DNAH11 | c.6303T= (p.Asn2101=) c.6324T= (p.Asn2108=) | |
7 | g.21704464A>C | CA366936925 | DNAH11 | c.6304A>C (p.Met2102Leu) c.6325A>C (p.Met2109Leu) | |
7 | g.21704464A>G | CA366936927 | DNAH11 | c.6304A>G (p.Met2102Val) c.6325A>G (p.Met2109Val) | |
7 | g.21704464A>T | CA366936926 | DNAH11 | c.6304A>T (p.Met2102Leu) c.6325A>T (p.Met2109Leu) | |
7 | g.21704465T>A | CA366936928 | DNAH11 | c.6305T>A (p.Met2102Lys) c.6326T>A (p.Met2109Lys) | |
7 | g.21704465T>C | CA366936930 | DNAH11 | c.6305T>C (p.Met2102Thr) c.6326T>C (p.Met2109Thr) | |
7 | g.21704465T>G | CA366936929 | DNAH11 | c.6305T>G (p.Met2102Arg) c.6326T>G (p.Met2109Arg) | |
7 | g.21704466G>A | CA366936931 | DNAH11 | c.6306G>A (p.Met2102Ile) c.6327G>A (p.Met2109Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704466G>C | CA366936932 | DNAH11 | c.6306G>C (p.Met2102Ile) c.6327G>C (p.Met2109Ile) | |
7 | g.21704466G= | CA1693624675 | DNAH11 | c.6306G= (p.Met2102=) c.6327G= (p.Met2109=) | |
7 | g.21704466G>T | CA366936933 | DNAH11 | c.6306G>T (p.Met2102Ile) c.6327G>T (p.Met2109Ile) | gnomAD v4 |
7 | g.21704467C>A | CA366936934 | DNAH11 | c.6307C>A (p.Pro2103Thr) c.6328C>A (p.Pro2110Thr) | |
7 | g.21704467C= | CA1693624676 | DNAH11 | c.6307C= (p.Pro2103=) c.6328C= (p.Pro2110=) | |
7 | g.21704467C>G | CA366936935 | DNAH11 | c.6307C>G (p.Pro2103Ala) c.6328C>G (p.Pro2110Ala) | |
7 | g.21704467C>T | CA366936936 | DNAH11 | c.6307C>T (p.Pro2103Ser) c.6328C>T (p.Pro2110Ser) | dbSNP |
7 | g.21704468C>A | CA366936937 | DNAH11 | c.6308C>A (p.Pro2103His) c.6329C>A (p.Pro2110His) | |
7 | g.21704468C>G | CA366936938 | DNAH11 | c.6308C>G (p.Pro2103Arg) c.6329C>G (p.Pro2110Arg) | |
7 | g.21704468C>T | CA366936939 | DNAH11 | c.6308C>T (p.Pro2103Leu) c.6329C>T (p.Pro2110Leu) | |
7 | g.21704469C>A | CA453964695 | DNAH11 | c.6309C>A (p.Pro2103=) c.6330C>A (p.Pro2110=) | |
7 | g.21704469C= | CA1693624680 | DNAH11 | c.6309C= (p.Pro2103=) c.6330C= (p.Pro2110=) | |
7 | g.21704469C>G | CA155076545 | DNAH11 | c.6309C>G (p.Pro2103=) c.6330C>G (p.Pro2110=) | dbSNP |
7 | g.21704469C>T | CA453964696 | DNAH11 | c.6309C>T (p.Pro2103=) c.6330C>T (p.Pro2110=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704470A>C | CA366936940 | DNAH11 | c.6310A>C (p.Lys2104Gln) c.6331A>C (p.Lys2111Gln) | |
7 | g.21704470A>G | CA366936941 | DNAH11 | c.6310A>G (p.Lys2104Glu) c.6331A>G (p.Lys2111Glu) | |
7 | g.21704470A>T | CA366936942 | DNAH11 | c.6310A>T (p.Lys2104Ter) c.6331A>T (p.Lys2111Ter) | |
7 | g.21704471A>C | CA366936943 | DNAH11 | c.6311A>C (p.Lys2104Thr) c.6332A>C (p.Lys2111Thr) | |
7 | g.21704471A>G | CA366936945 | DNAH11 | c.6311A>G (p.Lys2104Arg) c.6332A>G (p.Lys2111Arg) | |
7 | g.21704471A>T | CA366936944 | DNAH11 | c.6311A>T (p.Lys2104Ile) c.6332A>T (p.Lys2111Ile) | |
7 | g.21704472A= | CA1693624686 | DNAH11 | c.6312A= (p.Lys2104=) c.6333A= (p.Lys2111=) | |
7 | g.21704472A>C | CA4180779 | DNAH11 | c.6312A>C (p.Lys2104Asn) c.6333A>C (p.Lys2111Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704472A>G | CA453964697 | DNAH11 | c.6312A>G (p.Lys2104=) c.6333A>G (p.Lys2111=) | |
7 | g.21704472A>T | CA366936946 | DNAH11 | c.6312A>T (p.Lys2104Asn) c.6333A>T (p.Lys2111Asn) | |
7 | g.21704473A>C | CA366936947 | DNAH11 | c.6313A>C (p.Ile2105Leu) c.6334A>C (p.Ile2112Leu) | |
7 | g.21704473A>G | CA366936948 | DNAH11 | c.6313A>G (p.Ile2105Val) c.6334A>G (p.Ile2112Val) | gnomAD v4 |
7 | g.21704473A>T | CA366936949 | DNAH11 | c.6313A>T (p.Ile2105Leu) c.6334A>T (p.Ile2112Leu) | |
7 | g.21704474T>A | CA366936950 | DNAH11 | c.6314T>A (p.Ile2105Lys) c.6335T>A (p.Ile2112Lys) | |
7 | g.21704474T>C | CA366936951 | DNAH11 | c.6314T>C (p.Ile2105Thr) c.6335T>C (p.Ile2112Thr) | dbSNP gnomAD v4 |
7 | g.21704474T>G | CA366936952 | DNAH11 | c.6314T>G (p.Ile2105Arg) c.6335T>G (p.Ile2112Arg) | |
7 | g.21704474T= | CA1693624690 | DNAH11 | c.6314T= (p.Ile2105=) c.6335T= (p.Ile2112=) | |
7 | g.21704475A>C | CA453964698 | DNAH11 | c.6315A>C (p.Ile2105=) c.6336A>C (p.Ile2112=) | |
7 | g.21704475A>G | CA366936953 | DNAH11 | c.6315A>G (p.Ile2105Met) c.6336A>G (p.Ile2112Met) | |
7 | g.21704475A>T | CA453964699 | DNAH11 | c.6315A>T (p.Ile2105=) c.6336A>T (p.Ile2112=) | |
7 | g.21704476G>A | CA4180780 | DNAH11 | c.6316G>A (p.Val2106Met) c.6337G>A (p.Val2113Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21704476G>C | CA366936955 | DNAH11 | c.6316G>C (p.Val2106Leu) c.6337G>C (p.Val2113Leu) | |
7 | g.21704476G= | CA1693624695 | DNAH11 | c.6316G= (p.Val2106=) c.6337G= (p.Val2113=) | |
7 | g.21704476G>T | CA366936954 | DNAH11 | c.6316G>T (p.Val2106Leu) c.6337G>T (p.Val2113Leu) | |
7 | g.21704477del | CA2695207536 | DNAH11 | c.6317del (p.Val2106GlyfsTer?) c.6338del (p.Val2113GlyfsTer?) | |
7 | g.21704477T>A | CA366936956 | DNAH11 | c.6317T>A (p.Val2106Glu) c.6338T>A (p.Val2113Glu) | |
7 | g.21704477T>C | CA366936957 | DNAH11 | c.6317T>C (p.Val2106Ala) c.6338T>C (p.Val2113Ala) | |
7 | g.21704477T>G | CA366936958 | DNAH11 | c.6317T>G (p.Val2106Gly) c.6338T>G (p.Val2113Gly) | |
7 | g.21704481_21704484del | CA2578843020 | DNAH11 | c.6321_6324del (p.Asp2108ThrfsTer?) c.6342_6345del (p.Asp2115ThrfsTer?) | |
7 | g.21704478G>A | CA453964700 | DNAH11 | c.6318G>A (p.Val2106=) c.6339G>A (p.Val2113=) | |
7 | g.21704478G>C | CA453964701 | DNAH11 | c.6318G>C (p.Val2106=) c.6339G>C (p.Val2113=) | |
7 | g.21704478G= | CA1693624698 | DNAH11 | c.6318G= (p.Val2106=) c.6339G= (p.Val2113=) | |
7 | g.21704478G>T | CA4180781 | DNAH11 | c.6318G>T (p.Val2106=) c.6339G>T (p.Val2113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704479A>C | CA366936959 | DNAH11 | c.6319A>C (p.Thr2107Pro) c.6340A>C (p.Thr2114Pro) | |
7 | g.21704479A>G | CA366936960 | DNAH11 | c.6319A>G (p.Thr2107Ala) c.6340A>G (p.Thr2114Ala) | |
7 | g.21704479A>T | CA366936961 | DNAH11 | c.6319A>T (p.Thr2107Ser) c.6340A>T (p.Thr2114Ser) | |
7 | g.21704480C>A | CA366936962 | DNAH11 | c.6320C>A (p.Thr2107Asn) c.6341C>A (p.Thr2114Asn) | |
7 | g.21704480C>G | CA366936963 | DNAH11 | c.6320C>G (p.Thr2107Ser) c.6341C>G (p.Thr2114Ser) | gnomAD v4 |
7 | g.21704480C>T | CA366936964 | DNAH11 | c.6320C>T (p.Thr2107Ile) c.6341C>T (p.Thr2114Ile) | |
7 | g.21704481T>A | CA453964703 | DNAH11 | c.6321T>A (p.Thr2107=) c.6342T>A (p.Thr2114=) | |
7 | g.21704481T>C | CA453964704 | DNAH11 | c.6321T>C (p.Thr2107=) c.6342T>C (p.Thr2114=) | ClinVar |
7 | g.21704481T>G | CA453964705 | DNAH11 | c.6321T>G (p.Thr2107=) c.6342T>G (p.Thr2114=) | |
7 | g.21704482G>A | CA366936965 | DNAH11 | c.6322G>A (p.Asp2108Asn) c.6343G>A (p.Asp2115Asn) | |
7 | g.21704482G>C | CA366936966 | DNAH11 | c.6322G>C (p.Asp2108His) c.6343G>C (p.Asp2115His) | |
7 | g.21704482G>T | CA366936967 | DNAH11 | c.6322G>T (p.Asp2108Tyr) c.6343G>T (p.Asp2115Tyr) | |
7 | g.21704483A>C | CA366936968 | DNAH11 | c.6323A>C (p.Asp2108Ala) c.6344A>C (p.Asp2115Ala) | |
7 | g.21704483A>G | CA366936970 | DNAH11 | c.6323A>G (p.Asp2108Gly) c.6344A>G (p.Asp2115Gly) | |
7 | g.21704483A>T | CA366936969 | DNAH11 | c.6323A>T (p.Asp2108Val) c.6344A>T (p.Asp2115Val) | |
7 | g.21704484C>A | CA366936971 | DNAH11 | c.6324C>A (p.Asp2108Glu) c.6345C>A (p.Asp2115Glu) | |
7 | g.21704484C= | CA1693624707 | DNAH11 | c.6324C= (p.Asp2108=) c.6345C= (p.Asp2115=) | |
7 | g.21704484C>G | CA366936972 | DNAH11 | c.6324C>G (p.Asp2108Glu) c.6345C>G (p.Asp2115Glu) | |
7 | g.21704484C>T | CA4180782 | DNAH11 | c.6324C>T (p.Asp2108=) c.6345C>T (p.Asp2115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704485G>A | CA4180783 | DNAH11 | c.6325G>A (p.Asp2109Asn) c.6346G>A (p.Asp2116Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21704485G>C | CA366936973 | DNAH11 | c.6325G>C (p.Asp2109His) c.6346G>C (p.Asp2116His) | gnomAD v4 |
7 | g.21704485G= | CA1693624712 | DNAH11 | c.6325G= (p.Asp2109=) c.6346G= (p.Asp2116=) | |
7 | g.21704485G>T | CA366936974 | DNAH11 | c.6325G>T (p.Asp2109Tyr) c.6346G>T (p.Asp2116Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704486A>C | CA366936975 | DNAH11 | c.6326A>C (p.Asp2109Ala) c.6347A>C (p.Asp2116Ala) | |
7 | g.21704486A>G | CA366936976 | DNAH11 | c.6326A>G (p.Asp2109Gly) c.6347A>G (p.Asp2116Gly) | |
7 | g.21704486A>T | CA366936977 | DNAH11 | c.6326A>T (p.Asp2109Val) c.6347A>T (p.Asp2116Val) | |
7 | g.21704487C>A | CA366936978 | DNAH11 | c.6327C>A (p.Asp2109Glu) c.6348C>A (p.Asp2116Glu) | |
7 | g.21704487C= | CA1693624720 | DNAH11 | c.6327C= (p.Asp2109=) c.6348C= (p.Asp2116=) | |
7 | g.21704487C>G | CA366936979 | DNAH11 | c.6327C>G (p.Asp2109Glu) c.6348C>G (p.Asp2116Glu) | |
7 | g.21704487C>T | CA453964706 | DNAH11 | c.6327C>T (p.Asp2109=) c.6348C>T (p.Asp2116=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704488A= | CA1693624724 | DNAH11 | c.6328A= (p.Ile2110=) c.6349A= (p.Ile2117=) | |
7 | g.21704488A>C | CA4180784 | DNAH11 | c.6328A>C (p.Ile2110Leu) c.6349A>C (p.Ile2117Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704488A>G | CA366936981 | DNAH11 | c.6328A>G (p.Ile2110Val) c.6349A>G (p.Ile2117Val) | |
7 | g.21704488A>T | CA366936980 | DNAH11 | c.6328A>T (p.Ile2110Phe) c.6349A>T (p.Ile2117Phe) | |
7 | g.21704489T>A | CA366936984 | DNAH11 | c.6329T>A (p.Ile2110Asn) c.6350T>A (p.Ile2117Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704489T>C | CA366936982 | DNAH11 | c.6329T>C (p.Ile2110Thr) c.6350T>C (p.Ile2117Thr) | |
7 | g.21704489T>G | CA366936983 | DNAH11 | c.6329T>G (p.Ile2110Ser) c.6350T>G (p.Ile2117Ser) | |
7 | g.21704489T= | CA1693624727 | DNAH11 | c.6329T= (p.Ile2110=) c.6350T= (p.Ile2117=) | |
7 | g.21704490C>A | CA453964709 | DNAH11 | c.6330C>A (p.Ile2110=) c.6351C>A (p.Ile2117=) | |
7 | g.21704490C>G | CA366936985 | DNAH11 | c.6330C>G (p.Ile2110Met) c.6351C>G (p.Ile2117Met) | |
7 | g.21704490C>T | CA453964708 | DNAH11 | c.6330C>T (p.Ile2110=) c.6351C>T (p.Ile2117=) | gnomAD v4 |
7 | g.21704491C>A | CA366936986 | DNAH11 | c.6331C>A (p.Pro2111Thr) c.6352C>A (p.Pro2118Thr) | |
7 | g.21704491C= | CA1693624728 | DNAH11 | c.6331C= (p.Pro2111=) c.6352C= (p.Pro2118=) | |
7 | g.21704491C>G | CA366936987 | DNAH11 | c.6331C>G (p.Pro2111Ala) c.6352C>G (p.Pro2118Ala) | |
7 | g.21704491C>T | CA366936988 | DNAH11 | c.6331C>T (p.Pro2111Ser) c.6352C>T (p.Pro2118Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704492C>A | CA366936989 | DNAH11 | c.6332C>A (p.Pro2111Gln) c.6353C>A (p.Pro2118Gln) | |
7 | g.21704492C>G | CA366936990 | DNAH11 | c.6332C>G (p.Pro2111Arg) c.6353C>G (p.Pro2118Arg) | |
7 | g.21704492C>T | CA366936991 | DNAH11 | c.6332C>T (p.Pro2111Leu) c.6353C>T (p.Pro2118Leu) | |
7 | g.21704493A>C | CA453964710 | DNAH11 | c.6333A>C (p.Pro2111=) c.6354A>C (p.Pro2118=) | gnomAD v4 |
7 | g.21704493A>G | CA453964712 | DNAH11 | c.6333A>G (p.Pro2111=) c.6354A>G (p.Pro2118=) | gnomAD v4 |
7 | g.21704493A>T | CA453964711 | DNAH11 | c.6333A>T (p.Pro2111=) c.6354A>T (p.Pro2118=) | |
7 | g.21704494G>A | CA366936992 | DNAH11 | c.6334G>A (p.Val2112Met) c.6355G>A (p.Val2119Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704494G>C | CA366936993 | DNAH11 | c.6334G>C (p.Val2112Leu) c.6355G>C (p.Val2119Leu) | |
7 | g.21704494G= | CA1693624730 | DNAH11 | c.6334G= (p.Val2112=) c.6355G= (p.Val2119=) | |
7 | g.21704494G>T | CA4180785 | DNAH11 | c.6334G>T (p.Val2112Leu) c.6355G>T (p.Val2119Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704495T>A | CA366936994 | DNAH11 | c.6335T>A (p.Val2112Glu) c.6356T>A (p.Val2119Glu) | |
7 | g.21704495T>C | CA366936995 | DNAH11 | c.6335T>C (p.Val2112Ala) c.6356T>C (p.Val2119Ala) | |
7 | g.21704495T>G | CA4180786 | DNAH11 | c.6335T>G (p.Val2112Gly) c.6356T>G (p.Val2119Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704495T= | CA1693624733 | DNAH11 | c.6335T= (p.Val2112=) c.6356T= (p.Val2119=) | |
7 | g.21704496G>A | CA453964713 | DNAH11 | c.6336G>A (p.Val2112=) c.6357G>A (p.Val2119=) | |
7 | g.21704496G>C | CA453964714 | DNAH11 | c.6336G>C (p.Val2112=) c.6357G>C (p.Val2119=) | |
7 | g.21704496G>T | CA453964715 | DNAH11 | c.6336G>T (p.Val2112=) c.6357G>T (p.Val2119=) | |
7 | g.21704497T>A | CA366936996 | DNAH11 | c.6337T>A (p.Phe2113Ile) c.6358T>A (p.Phe2120Ile) | |
7 | g.21704497T>C | CA366936997 | DNAH11 | c.6337T>C (p.Phe2113Leu) c.6358T>C (p.Phe2120Leu) | |
7 | g.21704497T>G | CA366936998 | DNAH11 | c.6337T>G (p.Phe2113Val) c.6358T>G (p.Phe2120Val) | |
7 | g.21704498T>A | CA366936999 | DNAH11 | c.6338T>A (p.Phe2113Tyr) c.6359T>A (p.Phe2120Tyr) | |
7 | g.21704498T>C | CA366937000 | DNAH11 | c.6338T>C (p.Phe2113Ser) c.6359T>C (p.Phe2120Ser) | |
7 | g.21704498T>G | CA366937001 | DNAH11 | c.6338T>G (p.Phe2113Cys) c.6359T>G (p.Phe2120Cys) | |
7 | g.21704499T>A | CA366937002 | DNAH11 | c.6339T>A (p.Phe2113Leu) c.6360T>A (p.Phe2120Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.21704499T>C | CA453964719 | DNAH11 | c.6339T>C (p.Phe2113=) c.6360T>C (p.Phe2120=) | |
7 | g.21704499T>G | CA366937003 | DNAH11 | c.6339T>G (p.Phe2113Leu) c.6360T>G (p.Phe2120Leu) | gnomAD v4 |
7 | g.21704499T= | CA1693624735 | DNAH11 | c.6339T= (p.Phe2113=) c.6360T= (p.Phe2120=) | |
7 | g.21704500C>A | CA366937004 | DNAH11 | c.6340C>A (p.Leu2114Met) c.6361C>A (p.Leu2121Met) | |
7 | g.21704500C>G | CA366937005 | DNAH11 | c.6340C>G (p.Leu2114Val) c.6361C>G (p.Leu2121Val) | |
7 | g.21704500C>T | CA453964721 | DNAH11 | c.6340C>T (p.Leu2114=) c.6361C>T (p.Leu2121=) | COSMIC COSMIC |
7 | g.21704501T>A | CA366937006 | DNAH11 | c.6341T>A (p.Leu2114Gln) c.6362T>A (p.Leu2121Gln) | gnomAD v4 |
7 | g.21704501T>C | CA366937007 | DNAH11 | c.6341T>C (p.Leu2114Pro) c.6362T>C (p.Leu2121Pro) | |
7 | g.21704501T>G | CA366937008 | DNAH11 | c.6341T>G (p.Leu2114Arg) c.6362T>G (p.Leu2121Arg) | |
7 | g.21704502G>A | CA453964724 | DNAH11 | c.6342G>A (p.Leu2114=) c.6363G>A (p.Leu2121=) | |
7 | g.21704502G>C | CA453964725 | DNAH11 | c.6342G>C (p.Leu2114=) c.6363G>C (p.Leu2121=) | |
7 | g.21704502G>T | CA453964726 | DNAH11 | c.6342G>T (p.Leu2114=) c.6363G>T (p.Leu2121=) | |
7 | g.21704503G>A | CA4180787 | DNAH11 | c.6343G>A (p.Gly2115Ser) c.6364G>A (p.Gly2122Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704503G>C | CA366937010 | DNAH11 | c.6343G>C (p.Gly2115Arg) c.6364G>C (p.Gly2122Arg) | |
7 | g.21704503G= | CA1693624739 | DNAH11 | c.6343G= (p.Gly2115=) c.6364G= (p.Gly2122=) | |
7 | g.21704503G>T | CA366937009 | DNAH11 | c.6343G>T (p.Gly2115Cys) c.6364G>T (p.Gly2122Cys) | |
7 | g.21704504G>A | CA366937011 | DNAH11 | c.6344G>A (p.Gly2115Asp) c.6365G>A (p.Gly2122Asp) | |
7 | g.21704504G>C | CA366937012 | DNAH11 | c.6344G>C (p.Gly2115Ala) c.6365G>C (p.Gly2122Ala) | |
7 | g.21704504G>T | CA366937013 | DNAH11 | c.6344G>T (p.Gly2115Val) c.6365G>T (p.Gly2122Val) | |
7 | g.21704505C>A | CA453964727 | DNAH11 | c.6345C>A (p.Gly2115=) c.6366C>A (p.Gly2122=) | ClinVar |
7 | g.21704505C>G | CA453964728 | DNAH11 | c.6345C>G (p.Gly2115=) c.6366C>G (p.Gly2122=) | ClinVar |
7 | g.21704505C>T | CA453964729 | DNAH11 | c.6345C>T (p.Gly2115=) c.6366C>T (p.Gly2122=) | |
7 | g.21704506C>A | CA366937014 | DNAH11 | c.6346C>A (p.Leu2116Met) c.6367C>A (p.Leu2123Met) | |
7 | g.21704506C>G | CA366937015 | DNAH11 | c.6346C>G (p.Leu2116Val) c.6367C>G (p.Leu2123Val) | gnomAD v4 |
7 | g.21704506C>T | CA453964730 | DNAH11 | c.6346C>T (p.Leu2116=) c.6367C>T (p.Leu2123=) | gnomAD v4 |
7 | g.21704507T>A | CA366937016 | DNAH11 | c.6347T>A (p.Leu2116Gln) c.6368T>A (p.Leu2123Gln) | |
7 | g.21704507T>C | CA366937017 | DNAH11 | c.6347T>C (p.Leu2116Pro) c.6368T>C (p.Leu2123Pro) | |
7 | g.21704507T>G | CA366937018 | DNAH11 | c.6347T>G (p.Leu2116Arg) c.6368T>G (p.Leu2123Arg) | |
7 | g.21704508G>A | CA453964735 | DNAH11 | c.6348G>A (p.Leu2116=) c.6369G>A (p.Leu2123=) | |
7 | g.21704508G>C | CA4180788 | DNAH11 | c.6348G>C (p.Leu2116=) c.6369G>C (p.Leu2123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704508G= | CA1693624742 | DNAH11 | c.6348G= (p.Leu2116=) c.6369G= (p.Leu2123=) | |
7 | g.21704508G>T | CA453964734 | DNAH11 | c.6348G>T (p.Leu2116=) c.6369G>T (p.Leu2123=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704509G>A | CA4180789 | DNAH11 | c.6349G>A (p.Val2117Ile) c.6370G>A (p.Val2124Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704509G>C | CA366937022 | DNAH11 | c.6349G>C (p.Val2117Leu) c.6370G>C (p.Val2124Leu) | |
7 | g.21704509G= | CA1693624746 | DNAH11 | c.6349G= (p.Val2117=) c.6370G= (p.Val2124=) | |
7 | g.21704509G>T | CA366937024 | DNAH11 | c.6349G>T (p.Val2117Phe) c.6370G>T (p.Val2124Phe) | gnomAD v4 |
7 | g.21704510T>A | CA366937029 | DNAH11 | c.6350T>A (p.Val2117Asp) c.6371T>A (p.Val2124Asp) | |
7 | g.21704510T>C | CA366937031 | DNAH11 | c.6350T>C (p.Val2117Ala) c.6371T>C (p.Val2124Ala) | dbSNP |
7 | g.21704510T>G | CA366937027 | DNAH11 | c.6350T>G (p.Val2117Gly) c.6371T>G (p.Val2124Gly) | |
7 | g.21704510T= | CA1693624749 | DNAH11 | c.6350T= (p.Val2117=) c.6371T= (p.Val2124=) | |
7 | g.21704511C>A | CA453964738 | DNAH11 | c.6351C>A (p.Val2117=) c.6372C>A (p.Val2124=) | |
7 | g.21704511C= | CA1693624753 | DNAH11 | c.6351C= (p.Val2117=) c.6372C= (p.Val2124=) | |
7 | g.21704511C>G | CA453964737 | DNAH11 | c.6351C>G (p.Val2117=) c.6372C>G (p.Val2124=) | |
7 | g.21704511C>T | CA4180790 | DNAH11 | c.6351C>T (p.Val2117=) c.6372C>T (p.Val2124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704512G>A | CA4180791 | DNAH11 | c.6352G>A (p.Gly2118Ser) c.6373G>A (p.Gly2125Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704512G>C | CA366937036 | DNAH11 | c.6352G>C (p.Gly2118Arg) c.6373G>C (p.Gly2125Arg) | |
7 | g.21704512G= | CA1693624765 | DNAH11 | c.6352G= (p.Gly2118=) c.6373G= (p.Gly2125=) | |
7 | g.21704512G>T | CA366937037 | DNAH11 | c.6352G>T (p.Gly2118Cys) c.6373G>T (p.Gly2125Cys) | |
7 | g.21704513G>A | CA16612068 | DNAH11 | c.6353G>A (p.Gly2118Asp) c.6374G>A (p.Gly2125Asp) | ClinVar dbSNP |
7 | g.21704513G>C | CA366937039 | DNAH11 | c.6353G>C (p.Gly2118Ala) c.6374G>C (p.Gly2125Ala) | |
7 | g.21704513G= | CA1693624769 | DNAH11 | c.6353G= (p.Gly2118=) c.6374G= (p.Gly2125=) | |
7 | g.21704513G>T | CA366937038 | DNAH11 | c.6353G>T (p.Gly2118Val) c.6374G>T (p.Gly2125Val) | dbSNP gnomAD v4 |
7 | g.21704514T>A | CA453964743 | DNAH11 | c.6354T>A (p.Gly2118=) c.6375T>A (p.Gly2125=) | |
7 | g.21704514T>C | CA4180792 | DNAH11 | c.6354T>C (p.Gly2118=) c.6375T>C (p.Gly2125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.21704514T>G | CA453964744 | DNAH11 | c.6354T>G (p.Gly2118=) c.6375T>G (p.Gly2125=) | |
7 | g.21704514T= | CA1693624776 | DNAH11 | c.6354T= (p.Gly2118=) c.6375T= (p.Gly2125=) | |
7 | g.21704515G>A | CA155076604 | DNAH11 | c.6355G>A (p.Asp2119Asn) c.6376G>A (p.Asp2126Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704515G>C | CA366937044 | DNAH11 | c.6355G>C (p.Asp2119His) c.6376G>C (p.Asp2126His) | |
7 | g.21704515G= | CA1693624780 | DNAH11 | c.6355G= (p.Asp2119=) c.6376G= (p.Asp2126=) | |
7 | g.21704515G>T | CA366937046 | DNAH11 | c.6355G>T (p.Asp2119Tyr) c.6376G>T (p.Asp2126Tyr) | |
7 | g.21704516A>C | CA366937049 | DNAH11 | c.6356A>C (p.Asp2119Ala) c.6377A>C (p.Asp2126Ala) | |
7 | g.21704516A>G | CA366937051 | DNAH11 | c.6356A>G (p.Asp2119Gly) c.6377A>G (p.Asp2126Gly) | gnomAD v4 |
7 | g.21704516A>T | CA366937053 | DNAH11 | c.6356A>T (p.Asp2119Val) c.6377A>T (p.Asp2126Val) | |
7 | g.21704517C>A | CA366937056 | DNAH11 | c.6357C>A (p.Asp2119Glu) c.6378C>A (p.Asp2126Glu) | |
7 | g.21704517C>G | CA366937058 | DNAH11 | c.6357C>G (p.Asp2119Glu) c.6378C>G (p.Asp2126Glu) | |
7 | g.21704517C>T | CA453964746 | DNAH11 | c.6357C>T (p.Asp2119=) c.6378C>T (p.Asp2126=) | |
7 | g.21704518C>A | CA366937061 | DNAH11 | c.6358C>A (p.Leu2120Met) c.6379C>A (p.Leu2127Met) | |
7 | g.21704518C= | CA1693624781 | DNAH11 | c.6358C= (p.Leu2120=) c.6379C= (p.Leu2127=) | |
7 | g.21704518C>G | CA366937063 | DNAH11 | c.6358C>G (p.Leu2120Val) c.6379C>G (p.Leu2127Val) | |
7 | g.21704518C>T | CA453964749 | DNAH11 | c.6358C>T (p.Leu2120=) c.6379C>T (p.Leu2127=) | ClinVar dbSNP gnomAD v4 |
7 | g.21704519T>A | CA366937066 | DNAH11 | c.6359T>A (p.Leu2120Gln) c.6380T>A (p.Leu2127Gln) | COSMIC COSMIC |
7 | g.21704519T>C | CA366937070 | DNAH11 | c.6359T>C (p.Leu2120Pro) c.6380T>C (p.Leu2127Pro) | |
7 | g.21704519T>G | CA366937068 | DNAH11 | c.6359T>G (p.Leu2120Arg) c.6380T>G (p.Leu2127Arg) | |
7 | g.21704520G>A | CA453964750 | DNAH11 | c.6360G>A (p.Leu2120=) c.6381G>A (p.Leu2127=) | ClinVar |
7 | g.21704520G>C | CA453964751 | DNAH11 | c.6360G>C (p.Leu2120=) c.6381G>C (p.Leu2127=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21704520G= | CA1693624782 | DNAH11 | c.6360G= (p.Leu2120=) c.6381G= (p.Leu2127=) | |
7 | g.21704520G>T | CA453964752 | DNAH11 | c.6360G>T (p.Leu2120=) c.6381G>T (p.Leu2127=) | |
7 | g.21704521T>A | CA366937073 | DNAH11 | c.6361T>A (p.Phe2121Ile) c.6382T>A (p.Phe2128Ile) | |
7 | g.21704521T>C | CA366937078 | DNAH11 | c.6361T>C (p.Phe2121Leu) c.6382T>C (p.Phe2128Leu) | dbSNP gnomAD v4 |
7 | g.21704521T>G | CA366937076 | DNAH11 | c.6361T>G (p.Phe2121Val) c.6382T>G (p.Phe2128Val) | |
7 | g.21704521T= | CA1693624785 | DNAH11 | c.6361T= (p.Phe2121=) c.6382T= (p.Phe2128=) | |
7 | g.21704522T>A | CA155076614 | DNAH11 | c.6362T>A (p.Phe2121Tyr) c.6383T>A (p.Phe2128Tyr) | dbSNP |
7 | g.21704522T>C | CA366937082 | DNAH11 | c.6362T>C (p.Phe2121Ser) c.6383T>C (p.Phe2128Ser) | |
7 | g.21704522T>G | CA366937084 | DNAH11 | c.6362T>G (p.Phe2121Cys) c.6383T>G (p.Phe2128Cys) | |
7 | g.21704522T= | CA1693624789 | DNAH11 | c.6362T= (p.Phe2121=) c.6383T= (p.Phe2128=) | |
7 | g.21704523T>A | CA366937086 | DNAH11 | c.6363T>A (p.Phe2121Leu) c.6384T>A (p.Phe2128Leu) | gnomAD v4 |
7 | g.21704523T>C | CA453964754 | DNAH11 | c.6363T>C (p.Phe2121=) c.6384T>C (p.Phe2128=) | ClinVar dbSNP |
7 | g.21704523T>G | CA366937089 | DNAH11 | c.6363T>G (p.Phe2121Leu) c.6384T>G (p.Phe2128Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704523T= | CA1693624794 | DNAH11 | c.6363T= (p.Phe2121=) c.6384T= (p.Phe2128=) | |
7 | g.21704524C>A | CA366937091 | DNAH11 | c.6364C>A (p.Pro2122Thr) c.6385C>A (p.Pro2129Thr) | |
7 | g.21704524C= | CA1693624797 | DNAH11 | c.6364C= (p.Pro2122=) c.6385C= (p.Pro2129=) | |
7 | g.21704524C>G | CA366937094 | DNAH11 | c.6364C>G (p.Pro2122Ala) c.6385C>G (p.Pro2129Ala) | dbSNP |
7 | g.21704524C>T | CA366937096 | DNAH11 | c.6364C>T (p.Pro2122Ser) c.6385C>T (p.Pro2129Ser) | |
7 | g.21704525C>A | CA366937099 | DNAH11 | c.6365C>A (p.Pro2122Gln) c.6386C>A (p.Pro2129Gln) | |
7 | g.21704525C= | CA1693624803 | DNAH11 | c.6365C= (p.Pro2122=) c.6386C= (p.Pro2129=) | |
7 | g.21704525C>G | CA366937100 | DNAH11 | c.6365C>G (p.Pro2122Arg) c.6386C>G (p.Pro2129Arg) | |
7 | g.21704525C>T | CA4180793 | DNAH11 | c.6365C>T (p.Pro2122Leu) c.6386C>T (p.Pro2129Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704526A>C | CA453964757 | DNAH11 | c.6366A>C (p.Pro2122=) c.6387A>C (p.Pro2129=) | gnomAD v4 |
7 | g.21704526A>G | CA453964758 | DNAH11 | c.6366A>G (p.Pro2122=) c.6387A>G (p.Pro2129=) | |
7 | g.21704526A>T | CA453964759 | DNAH11 | c.6366A>T (p.Pro2122=) c.6387A>T (p.Pro2129=) | |
7 | g.21704527G>A | CA366937108 | DNAH11 | c.6367G>A (p.Ala2123Thr) c.6388G>A (p.Ala2130Thr) | |
7 | g.21704527G>C | CA366937104 | DNAH11 | c.6367G>C (p.Ala2123Pro) c.6388G>C (p.Ala2130Pro) | |
7 | g.21704527G>T | CA366937106 | DNAH11 | c.6367G>T (p.Ala2123Ser) c.6388G>T (p.Ala2130Ser) | |
7 | g.21704527_21704528delinsGC | CA1693624808 | DNAH11 | c.6367_6368delinsGC (p.Ala2123=) c.6388_6389delinsGC (p.Ala2130=) | |
7 | g.21704528C>A | CA366937111 | DNAH11 | c.6368C>A (p.Ala2123Asp) c.6389C>A (p.Ala2130Asp) | |
7 | g.21704528C= | CA1693624816 | DNAH11 | c.6368C= (p.Ala2123=) c.6389C= (p.Ala2130=) | |
7 | g.21704528C>G | CA366937113 | DNAH11 | c.6368C>G (p.Ala2123Gly) c.6389C>G (p.Ala2130Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704528C>T | CA366937116 | DNAH11 | c.6368C>T (p.Ala2123Val) c.6389C>T (p.Ala2130Val) | gnomAD v4 |
7 | g.21704530del | CA917960770 | DNAH11 | c.6370del (p.Leu2124TrpfsTer?) c.6391del (p.Leu2131TrpfsTer?) | dbSNP |
7 | g.21704529C>A | CA4180794 | DNAH11 | c.6369C>A (p.Ala2123=) c.6390C>A (p.Ala2130=) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.21704529C= | CA1693624821 | DNAH11 | c.6369C= (p.Ala2123=) c.6390C= (p.Ala2130=) | |
7 | g.21704529C>G | CA453964761 | DNAH11 | c.6369C>G (p.Ala2123=) c.6390C>G (p.Ala2130=) | |
7 | g.21704529C>T | CA453964762 | DNAH11 | c.6369C>T (p.Ala2123=) c.6390C>T (p.Ala2130=) | dbSNP |
7 | g.21704530C>A | CA366937121 | DNAH11 | c.6370C>A (p.Leu2124Met) c.6391C>A (p.Leu2131Met) | |
7 | g.21704530C>G | CA366937123 | DNAH11 | c.6370C>G (p.Leu2124Val) c.6391C>G (p.Leu2131Val) | |
7 | g.21704530C>T | CA453964763 | DNAH11 | c.6370C>T (p.Leu2124=) c.6391C>T (p.Leu2131=) | |
7 | g.21704531T>A | CA366937126 | DNAH11 | c.6371T>A (p.Leu2124Gln) c.6392T>A (p.Leu2131Gln) | |
7 | g.21704531T>C | CA155076618 | DNAH11 | c.6371T>C (p.Leu2124Pro) c.6392T>C (p.Leu2131Pro) | dbSNP |
7 | g.21704531T>G | CA366937130 | DNAH11 | c.6371T>G (p.Leu2124Arg) c.6392T>G (p.Leu2131Arg) | |
7 | g.21704531T= | CA1693624827 | DNAH11 | c.6371T= (p.Leu2124=) c.6392T= (p.Leu2131=) | |
7 | g.21704532G>A | CA4180795 | DNAH11 | c.6372G>A (p.Leu2124=) c.6393G>A (p.Leu2131=) | dbSNP ExAC gnomAD v4 |
7 | g.21704532G>C | CA453964764 | DNAH11 | c.6372G>C (p.Leu2124=) c.6393G>C (p.Leu2131=) | |
7 | g.21704532G= | CA1693624834 | DNAH11 | c.6372G= (p.Leu2124=) c.6393G= (p.Leu2131=) | |
7 | g.21704532G>T | CA453964765 | DNAH11 | c.6372G>T (p.Leu2124=) c.6393G>T (p.Leu2131=) | |
7 | g.21704533del | CA2681984126 | DNAH11 | c.6373del (p.Asp2125MetfsTer?) c.6394del (p.Asp2132MetfsTer?) | gnomAD v4 |
7 | g.21704533G>A | CA366937140 | DNAH11 | c.6373G>A (p.Asp2125Asn) c.6394G>A (p.Asp2132Asn) | gnomAD v4 |
7 | g.21704533G>C | CA366937137 | DNAH11 | c.6373G>C (p.Asp2125His) c.6394G>C (p.Asp2132His) | gnomAD v4 |
7 | g.21704533G>T | CA366937135 | DNAH11 | c.6373G>T (p.Asp2125Tyr) c.6394G>T (p.Asp2132Tyr) | gnomAD v4 |
7 | g.21704534A= | CA1693624838 | DNAH11 | c.6374A= (p.Asp2125=) c.6395A= (p.Asp2132=) | |
7 | g.21704534A>C | CA366937143 | DNAH11 | c.6374A>C (p.Asp2125Ala) c.6395A>C (p.Asp2132Ala) | |
7 | g.21704534A>G | CA4180796 | DNAH11 | c.6374A>G (p.Asp2125Gly) c.6395A>G (p.Asp2132Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704534A>T | CA366937146 | DNAH11 | c.6374A>T (p.Asp2125Val) c.6395A>T (p.Asp2132Val) | gnomAD v4 |
7 | g.21704535T>A | CA366937148 | DNAH11 | c.6375T>A (p.Asp2125Glu) c.6396T>A (p.Asp2132Glu) | |
7 | g.21704535T>C | CA4180797 | DNAH11 | c.6375T>C (p.Asp2125=) c.6396T>C (p.Asp2132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704535T>G | CA366937152 | DNAH11 | c.6375T>G (p.Asp2125Glu) c.6396T>G (p.Asp2132Glu) | |
7 | g.21704535T= | CA1693624842 | DNAH11 | c.6375T= (p.Asp2125=) c.6396T= (p.Asp2132=) | |
7 | g.21704536G>A | CA4180798 | DNAH11 | c.6376G>A (p.Val2126Met) c.6397G>A (p.Val2133Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704536G>C | CA366937156 | DNAH11 | c.6376G>C (p.Val2126Leu) c.6397G>C (p.Val2133Leu) | |
7 | g.21704536G= | CA1693624851 | DNAH11 | c.6376G= (p.Val2126=) c.6397G= (p.Val2133=) | |
7 | g.21704536G>T | CA366937159 | DNAH11 | c.6376G>T (p.Val2126Leu) c.6397G>T (p.Val2133Leu) | gnomAD v4 |
7 | g.21704537T>A | CA366937163 | DNAH11 | c.6377T>A (p.Val2126Glu) c.6398T>A (p.Val2133Glu) | |
7 | g.21704537T>C | CA366937165 | DNAH11 | c.6377T>C (p.Val2126Ala) c.6398T>C (p.Val2133Ala) | |
7 | g.21704537T>G | CA366937167 | DNAH11 | c.6377T>G (p.Val2126Gly) c.6398T>G (p.Val2133Gly) | |
7 | g.21704538G>A | CA453964769 | DNAH11 | c.6378G>A (p.Val2126=) c.6399G>A (p.Val2133=) | |
7 | g.21704538G>C | CA453964770 | DNAH11 | c.6378G>C (p.Val2126=) c.6399G>C (p.Val2133=) | |
7 | g.21704538G= | CA1693624862 | DNAH11 | c.6378G= (p.Val2126=) c.6399G= (p.Val2133=) | |
7 | g.21704538G>T | CA4180799 | DNAH11 | c.6378G>T (p.Val2126=) c.6399G>T (p.Val2133=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704539C>A | CA366937171 | DNAH11 | c.6379C>A (p.Pro2127Thr) c.6400C>A (p.Pro2134Thr) | |
7 | g.21704539C= | CA1693624867 | DNAH11 | c.6379C= (p.Pro2127=) c.6400C= (p.Pro2134=) | |
7 | g.21704539C>G | CA366937176 | DNAH11 | c.6379C>G (p.Pro2127Ala) c.6400C>G (p.Pro2134Ala) | |
7 | g.21704539C>T | CA366937173 | DNAH11 | c.6379C>T (p.Pro2127Ser) c.6400C>T (p.Pro2134Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704540C>A | CA366937178 | DNAH11 | c.6380C>A (p.Pro2127His) c.6401C>A (p.Pro2134His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704540C= | CA1693624872 | DNAH11 | c.6380C= (p.Pro2127=) c.6401C= (p.Pro2134=) | |
7 | g.21704540C>G | CA366937181 | DNAH11 | c.6380C>G (p.Pro2127Arg) c.6401C>G (p.Pro2134Arg) | |
7 | g.21704540C>T | CA4180800 | DNAH11 | c.6380C>T (p.Pro2127Leu) c.6401C>T (p.Pro2134Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704541C>A | CA453964774 | DNAH11 | c.6381C>A (p.Pro2127=) c.6402C>A (p.Pro2134=) | |
7 | g.21704541C>G | CA453964777 | DNAH11 | c.6381C>G (p.Pro2127=) c.6402C>G (p.Pro2134=) | |
7 | g.21704541C>T | CA453964776 | DNAH11 | c.6381C>T (p.Pro2127=) c.6402C>T (p.Pro2134=) | |
7 | g.21704542C>A | CA453964778 | DNAH11 | c.6382C>A (p.Arg2128=) c.6403C>A (p.Arg2135=) | |
7 | g.21704542C= | CA1693624878 | DNAH11 | c.6382C= (p.Arg2128=) c.6403C= (p.Arg2135=) | |
7 | g.21704542C>G | CA366937183 | DNAH11 | c.6382C>G (p.Arg2128Gly) c.6403C>G (p.Arg2135Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704542C>T | CA4180801 | DNAH11 | c.6382C>T (p.Arg2128Trp) c.6403C>T (p.Arg2135Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704543G>A | CA4180802 | DNAH11 | c.6383G>A (p.Arg2128Gln) c.6404G>A (p.Arg2135Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.21704543G>C | CA366937189 | DNAH11 | c.6383G>C (p.Arg2128Pro) c.6404G>C (p.Arg2135Pro) | gnomAD v4 |
7 | g.21704543G= | CA1693624890 | DNAH11 | c.6383G= (p.Arg2128=) c.6404G= (p.Arg2135=) | |
7 | g.21704543G>T | CA366937191 | DNAH11 | c.6383G>T (p.Arg2128Leu) c.6404G>T (p.Arg2135Leu) | |
7 | g.21704544G>A | CA453964779 | DNAH11 | c.6384G>A (p.Arg2128=) c.6405G>A (p.Arg2135=) | |
7 | g.21704544G>C | CA4180803 | DNAH11 | c.6384G>C (p.Arg2128=) c.6405G>C (p.Arg2135=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704544G= | CA1693624896 | DNAH11 | c.6384G= (p.Arg2128=) c.6405G= (p.Arg2135=) | |
7 | g.21704544G>T | CA453964780 | DNAH11 | c.6384G>T (p.Arg2128=) c.6405G>T (p.Arg2135=) | |
7 | g.21704545A>C | CA453964782 | DNAH11 | c.6385A>C (p.Arg2129=) c.6406A>C (p.Arg2136=) | |
7 | g.21704545A>G | CA366937196 | DNAH11 | c.6385A>G (p.Arg2129Gly) c.6406A>G (p.Arg2136Gly) | |
7 | g.21704545A>T | CA366937198 | DNAH11 | c.6385A>T (p.Arg2129Trp) c.6406A>T (p.Arg2136Trp) | gnomAD v4 COSMIC COSMIC |
7 | g.21704546G>A | CA366937204 | DNAH11 | c.6386G>A (p.Arg2129Lys) c.6407G>A (p.Arg2136Lys) | gnomAD v4 |
7 | g.21704546G>C | CA366937207 | DNAH11 | c.6386G>C (p.Arg2129Thr) c.6407G>C (p.Arg2136Thr) | |
7 | g.21704546G>T | CA366937201 | DNAH11 | c.6386G>T (p.Arg2129Met) c.6407G>T (p.Arg2136Met) | |
7 | g.21704547G>A | CA453964785 | DNAH11 | c.6387G>A (p.Arg2129=) c.6408G>A (p.Arg2136=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21704547G>C | CA366937210 | DNAH11 | c.6387G>C (p.Arg2129Ser) c.6408G>C (p.Arg2136Ser) | |
7 | g.21704547G= | CA1693624901 | DNAH11 | c.6387G= (p.Arg2129=) c.6408G= (p.Arg2136=) | |
7 | g.21704547G>T | CA366937212 | DNAH11 | c.6387G>T (p.Arg2129Ser) c.6408G>T (p.Arg2136Ser) | |
7 | g.21704548A>C | CA453964788 | DNAH11 | c.6388A>C (p.Arg2130=) c.6409A>C (p.Arg2137=) | ClinVar |
7 | g.21704548A>G | CA366937215 | DNAH11 | c.6388A>G (p.Arg2130Gly) c.6409A>G (p.Arg2137Gly) | |
7 | g.21704548A>T | CA366937216 | DNAH11 | c.6388A>T (p.Arg2130Trp) c.6409A>T (p.Arg2137Trp) | COSMIC COSMIC |
7 | g.21704549G>A | CA366937218 | DNAH11 | c.6389G>A (p.Arg2130Lys) c.6410G>A (p.Arg2137Lys) | gnomAD v4 |
7 | g.21704549G>C | CA366937221 | DNAH11 | c.6389G>C (p.Arg2130Thr) c.6410G>C (p.Arg2137Thr) | |
7 | g.21704549G>T | CA366937223 | DNAH11 | c.6389G>T (p.Arg2130Met) c.6410G>T (p.Arg2137Met) | COSMIC |
7 | g.21704550G>A | CA453964789 | DNAH11 | c.6390G>A (p.Arg2130=) c.6411G>A (p.Arg2137=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21704550G>C | CA366937225 | DNAH11 | c.6390G>C (p.Arg2130Ser) c.6411G>C (p.Arg2137Ser) | |
7 | g.21704550G= | CA1693624910 | DNAH11 | c.6390G= (p.Arg2130=) c.6411G= (p.Arg2137=) | |
7 | g.21704550G>T | CA366937228 | DNAH11 | c.6390G>T (p.Arg2130Ser) c.6411G>T (p.Arg2137Ser) | |
7 | g.21704551A>C | CA366937231 | DNAH11 | c.6391A>C (p.Lys2131Gln) c.6412A>C (p.Lys2138Gln) | |
7 | g.21704551A>G | CA366937233 | DNAH11 | c.6391A>G (p.Lys2131Glu) c.6412A>G (p.Lys2138Glu) | |
7 | g.21704551A>T | CA366937235 | DNAH11 | c.6391A>T (p.Lys2131Ter) c.6412A>T (p.Lys2138Ter) | |
7 | g.21704552A>C | CA366937238 | DNAH11 | c.6392A>C (p.Lys2131Thr) c.6413A>C (p.Lys2138Thr) | |
7 | g.21704552A>G | CA366937240 | DNAH11 | c.6392A>G (p.Lys2131Arg) c.6413A>G (p.Lys2138Arg) | |
7 | g.21704552A>T | CA366937241 | DNAH11 | c.6392A>T (p.Lys2131Met) c.6413A>T (p.Lys2138Met) | |
7 | g.21704553G>A | CA453964791 | DNAH11 | c.6393G>A (p.Lys2131=) c.6414G>A (p.Lys2138=) | |
7 | g.21704553G>C | CA366937243 | DNAH11 | c.6393G>C (p.Lys2131Asn) c.6414G>C (p.Lys2138Asn) | |
7 | g.21704553G>T | CA366937245 | DNAH11 | c.6393G>T (p.Lys2131Asn) c.6414G>T (p.Lys2138Asn) | |
7 | g.21704554C>A | CA366937248 | DNAH11 | c.6394C>A (p.Leu2132Met) c.6415C>A (p.Leu2139Met) | |
7 | g.21704554C= | CA1693624919 | DNAH11 | c.6394C= (p.Leu2132=) c.6415C= (p.Leu2139=) | |
7 | g.21704554C>G | CA4180804 | DNAH11 | c.6394C>G (p.Leu2132Val) c.6415C>G (p.Leu2139Val) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.21704554C>T | CA453964793 | DNAH11 | c.6394C>T (p.Leu2132=) c.6415C>T (p.Leu2139=) | |
7 | g.21704555T>A | CA366937251 | DNAH11 | c.6395T>A (p.Leu2132Gln) c.6416T>A (p.Leu2139Gln) | |
7 | g.21704555T>C | CA4180805 | DNAH11 | c.6395T>C (p.Leu2132Pro) c.6416T>C (p.Leu2139Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704555T>G | CA366937254 | DNAH11 | c.6395T>G (p.Leu2132Arg) c.6416T>G (p.Leu2139Arg) | |
7 | g.21704555T= | CA1693624924 | DNAH11 | c.6395T= (p.Leu2132=) c.6416T= (p.Leu2139=) | |
7 | g.21704556G>A | CA453964794 | DNAH11 | c.6396G>A (p.Leu2132=) c.6417G>A (p.Leu2139=) | |
7 | g.21704556G>C | CA453964795 | DNAH11 | c.6396G>C (p.Leu2132=) c.6417G>C (p.Leu2139=) | |
7 | g.21704556G>T | CA453964796 | DNAH11 | c.6396G>T (p.Leu2132=) c.6417G>T (p.Leu2139=) | |
7 | g.21704557C>A | CA366937257 | DNAH11 | c.6397C>A (p.His2133Asn) c.6418C>A (p.His2140Asn) | |
7 | g.21704557C>G | CA366937259 | DNAH11 | c.6397C>G (p.His2133Asp) c.6418C>G (p.His2140Asp) | |
7 | g.21704557C>T | CA366937260 | DNAH11 | c.6397C>T (p.His2133Tyr) c.6418C>T (p.His2140Tyr) | |
7 | g.21704558A= | CA1693624929 | DNAH11 | c.6398A= (p.His2133=) c.6419A= (p.His2140=) | |
7 | g.21704558A>C | CA366937264 | DNAH11 | c.6398A>C (p.His2133Pro) c.6419A>C (p.His2140Pro) | gnomAD v4 |
7 | g.21704558A>G | CA366937266 | DNAH11 | c.6398A>G (p.His2133Arg) c.6419A>G (p.His2140Arg) | dbSNP gnomAD v4 |
7 | g.21704558A>T | CA366937268 | DNAH11 | c.6398A>T (p.His2133Leu) c.6419A>T (p.His2140Leu) | |
7 | g.21704559C>A | CA366937270 | DNAH11 | c.6399C>A (p.His2133Gln) c.6420C>A (p.His2140Gln) | |
7 | g.21704559C>G | CA366937273 | DNAH11 | c.6399C>G (p.His2133Gln) c.6420C>G (p.His2140Gln) | |
7 | g.21704559C>T | CA453964797 | DNAH11 | c.6399C>T (p.His2133=) c.6420C>T (p.His2140=) | gnomAD v4 |
7 | g.21704560T>A | CA366937276 | DNAH11 | c.6400T>A (p.Phe2134Ile) c.6421T>A (p.Phe2141Ile) | |
7 | g.21704560T>C | CA366937281 | DNAH11 | c.6400T>C (p.Phe2134Leu) c.6421T>C (p.Phe2141Leu) | |
7 | g.21704560T>G | CA366937279 | DNAH11 | c.6400T>G (p.Phe2134Val) c.6421T>G (p.Phe2141Val) | |
7 | g.21704561T>A | CA366937283 | DNAH11 | c.6401T>A (p.Phe2134Tyr) c.6422T>A (p.Phe2141Tyr) | |
7 | g.21704561T>C | CA366937285 | DNAH11 | c.6401T>C (p.Phe2134Ser) c.6422T>C (p.Phe2141Ser) | |
7 | g.21704561T>G | CA4180806 | DNAH11 | c.6401T>G (p.Phe2134Cys) c.6422T>G (p.Phe2141Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21704561T= | CA1693624933 | DNAH11 | c.6401T= (p.Phe2134=) c.6422T= (p.Phe2141=) | |
7 | g.21704562T>A | CA366937288 | DNAH11 | c.6402T>A (p.Phe2134Leu) c.6423T>A (p.Phe2141Leu) | |
7 | g.21704562T>C | CA453964798 | DNAH11 | c.6402T>C (p.Phe2134=) c.6423T>C (p.Phe2141=) | |
7 | g.21704562T>G | CA366937290 | DNAH11 | c.6402T>G (p.Phe2134Leu) c.6423T>G (p.Phe2141Leu) | |
7 | g.21704563G>A | CA366937293 | DNAH11 | c.6403G>A (p.Glu2135Lys) c.6424G>A (p.Glu2142Lys) | |
7 | g.21704563G>C | CA366937295 | DNAH11 | c.6403G>C (p.Glu2135Gln) c.6424G>C (p.Glu2142Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21704563G= | CA1693624942 | DNAH11 | c.6403G= (p.Glu2135=) c.6424G= (p.Glu2142=) | |
7 | g.21704563G>T | CA366937297 | DNAH11 | c.6403G>T (p.Glu2135Ter) c.6424G>T (p.Glu2142Ter) |