| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13735872A>C | CA359224813 | DNAH5 | c.11516T>G (p.Met3839Arg) c.11471T>G (p.Met3824Arg) c.11624T>G (p.Met3875Arg) c.10529T>G (p.Met3510Arg) c.11380T>G (p.Cys3794Gly) c.6713T>G (p.Met2238Arg) c.6266T>G (p.Met2089Arg) c.5603T>G (p.Met1868Arg) c.10118T>G (p.Met3373Arg) | |
| 5 | g.13735872A>G | CA359224815 | DNAH5 | c.11516T>C (p.Met3839Thr) c.11471T>C (p.Met3824Thr) c.11624T>C (p.Met3875Thr) c.10529T>C (p.Met3510Thr) c.11380T>C (p.Cys3794Arg) c.6713T>C (p.Met2238Thr) c.6266T>C (p.Met2089Thr) c.5603T>C (p.Met1868Thr) c.10118T>C (p.Met3373Thr) | gnomAD v4 |
| 5 | g.13735872A>T | CA359224811 | DNAH5 | c.11516T>A (p.Met3839Lys) c.11471T>A (p.Met3824Lys) c.11624T>A (p.Met3875Lys) c.10529T>A (p.Met3510Lys) c.11380T>A (p.Cys3794Ser) c.6713T>A (p.Met2238Lys) c.6266T>A (p.Met2089Lys) c.5603T>A (p.Met1868Lys) c.10118T>A (p.Met3373Lys) | |
| 5 | g.13735873T>A | CA359224825 | DNAH5 | c.11515A>T (p.Met3839Leu) c.11470A>T (p.Met3824Leu) c.11623A>T (p.Met3875Leu) c.10528A>T (p.Met3510Leu) c.11379A>T (p.Arg3793Ser) c.6712A>T (p.Met2238Leu) c.6265A>T (p.Met2089Leu) c.5602A>T (p.Met1868Leu) c.10117A>T (p.Met3373Leu) | |
| 5 | g.13735873T>C | CA359224819 | DNAH5 | c.11515A>G (p.Met3839Val) c.11470A>G (p.Met3824Val) c.11623A>G (p.Met3875Val) c.10528A>G (p.Met3510Val) c.11379A>G (p.Arg3793=) c.6712A>G (p.Met2238Val) c.6265A>G (p.Met2089Val) c.5602A>G (p.Met1868Val) c.10117A>G (p.Met3373Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735873T>G | CA359224828 | DNAH5 | c.11515A>C (p.Met3839Leu) c.11470A>C (p.Met3824Leu) c.11623A>C (p.Met3875Leu) c.10528A>C (p.Met3510Leu) c.11379A>C (p.Arg3793Ser) c.6712A>C (p.Met2238Leu) c.6265A>C (p.Met2089Leu) c.5602A>C (p.Met1868Leu) c.10117A>C (p.Met3373Leu) | |
| 5 | g.13735873T= | CA1528415119 | DNAH5 | c.11515A= (p.Met3839=) c.11470A= (p.Met3824=) c.11623A= (p.Met3875=) c.10528A= (p.Met3510=) c.11379A= (p.Arg3793=) c.6712A= (p.Met2238=) c.6265A= (p.Met2089=) c.5602A= (p.Met1868=) c.10117A= (p.Met3373=) | |
| 5 | g.13735874C>A | CA359224832 | DNAH5 | c.11514G>T (p.Glu3838Asp) c.11469G>T (p.Glu3823Asp) c.11622G>T (p.Glu3874Asp) c.10527G>T (p.Glu3509Asp) c.11378G>T (p.Arg3793Ile) c.6711G>T (p.Glu2237Asp) c.6264G>T (p.Glu2088Asp) c.5601G>T (p.Glu1867Asp) c.10116G>T (p.Glu3372Asp) | dbSNP |
| 5 | g.13735874C= | CA1528415120 | DNAH5 | c.11514G= (p.Glu3838=) c.11469G= (p.Glu3823=) c.11622G= (p.Glu3874=) c.10527G= (p.Glu3509=) c.11378G= (p.Arg3793=) c.6711G= (p.Glu2237=) c.6264G= (p.Glu2088=) c.5601G= (p.Glu1867=) c.10116G= (p.Glu3372=) | |
| 5 | g.13735874C>G | CA359224847 | DNAH5 | c.11514G>C (p.Glu3838Asp) c.11469G>C (p.Glu3823Asp) c.11622G>C (p.Glu3874Asp) c.10527G>C (p.Glu3509Asp) c.11378G>C (p.Arg3793Thr) c.6711G>C (p.Glu2237Asp) c.6264G>C (p.Glu2088Asp) c.5601G>C (p.Glu1867Asp) c.10116G>C (p.Glu3372Asp) | |
| 5 | g.13735874C>T | CA443260314 | DNAH5 | c.11514G>A (p.Glu3838=) c.11469G>A (p.Glu3823=) c.11622G>A (p.Glu3874=) c.10527G>A (p.Glu3509=) c.11378G>A (p.Arg3793Lys) c.6711G>A (p.Glu2237=) c.6264G>A (p.Glu2088=) c.5601G>A (p.Glu1867=) c.10116G>A (p.Glu3372=) | COSMIC |
| 5 | g.13735875T>A | CA359224848 | DNAH5 | c.11513A>T (p.Glu3838Val) c.11468A>T (p.Glu3823Val) c.11621A>T (p.Glu3874Val) c.10526A>T (p.Glu3509Val) c.11377A>T (p.Arg3793Ter) c.6710A>T (p.Glu2237Val) c.6263A>T (p.Glu2088Val) c.5600A>T (p.Glu1867Val) c.10115A>T (p.Glu3372Val) | |
| 5 | g.13735875T>C | CA359224850 | DNAH5 | c.11513A>G (p.Glu3838Gly) c.11468A>G (p.Glu3823Gly) c.11621A>G (p.Glu3874Gly) c.10526A>G (p.Glu3509Gly) c.11377A>G (p.Arg3793Gly) c.6710A>G (p.Glu2237Gly) c.6263A>G (p.Glu2088Gly) c.5600A>G (p.Glu1867Gly) c.10115A>G (p.Glu3372Gly) | |
| 5 | g.13735875T>G | CA359224849 | DNAH5 | c.11513A>C (p.Glu3838Ala) c.11468A>C (p.Glu3823Ala) c.11621A>C (p.Glu3874Ala) c.10526A>C (p.Glu3509Ala) c.11377A>C (p.Arg3793=) c.6710A>C (p.Glu2237Ala) c.6263A>C (p.Glu2088Ala) c.5600A>C (p.Glu1867Ala) c.10115A>C (p.Glu3372Ala) | |
| 5 | g.13735876C>A | CA359224852 | DNAH5 | c.11512G>T (p.Glu3838Ter) c.11467G>T (p.Glu3823Ter) c.11620G>T (p.Glu3874Ter) c.10525G>T (p.Glu3509Ter) c.11376G>T (p.Met3792Ile) c.6709G>T (p.Glu2237Ter) c.6262G>T (p.Glu2088Ter) c.5599G>T (p.Glu1867Ter) c.10114G>T (p.Glu3372Ter) | |
| 5 | g.13735876C= | CA1528415121 | DNAH5 | c.11512G= (p.Glu3838=) c.11467G= (p.Glu3823=) c.11620G= (p.Glu3874=) c.10525G= (p.Glu3509=) c.11376G= (p.Met3792=) c.6709G= (p.Glu2237=) c.6262G= (p.Glu2088=) c.5599G= (p.Glu1867=) c.10114G= (p.Glu3372=) | |
| 5 | g.13735876C>G | CA359224854 | DNAH5 | c.11512G>C (p.Glu3838Gln) c.11467G>C (p.Glu3823Gln) c.11620G>C (p.Glu3874Gln) c.10525G>C (p.Glu3509Gln) c.11376G>C (p.Met3792Ile) c.6709G>C (p.Glu2237Gln) c.6262G>C (p.Glu2088Gln) c.5599G>C (p.Glu1867Gln) c.10114G>C (p.Glu3372Gln) | |
| 5 | g.13735876C>T | CA3201936 | DNAH5 | c.11512G>A (p.Glu3838Lys) c.11467G>A (p.Glu3823Lys) c.11620G>A (p.Glu3874Lys) c.10525G>A (p.Glu3509Lys) c.11376G>A (p.Met3792Ile) c.6709G>A (p.Glu2237Lys) c.6262G>A (p.Glu2088Lys) c.5599G>A (p.Glu1867Lys) c.10114G>A (p.Glu3372Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13735879_13735891del | CA2573138435 | DNAH5 | c.11500_11512del (p.Leu3835CysfsTer17) c.11455_11467del (p.Leu3820CysfsTer17) c.11608_11620del (p.Leu3871CysfsTer17) c.10513_10525del (p.Leu3506CysfsTer17) c.11364_11376del (p.Cys3788Ter) c.6697_6709del (p.Leu2234CysfsTer17) c.6250_6262del (p.Leu2085CysfsTer17) c.5587_5599del (p.Leu1864CysfsTer17) c.10102_10114del (p.Leu3369CysfsTer17) | ClinVar dbSNP |
| 5 | g.13735877A>C | CA359224869 | DNAH5 | c.11511T>G (p.Asn3837Lys) c.11466T>G (p.Asn3822Lys) c.11619T>G (p.Asn3873Lys) c.10524T>G (p.Asn3508Lys) c.11375T>G (p.Met3792Arg) c.6708T>G (p.Asn2236Lys) c.6261T>G (p.Asn2087Lys) c.5598T>G (p.Asn1866Lys) c.10113T>G (p.Asn3371Lys) | dbSNP gnomAD v4 |
| 5 | g.13735877A>G | CA443260317 | DNAH5 | c.11511T>C (p.Asn3837=) c.11466T>C (p.Asn3822=) c.11619T>C (p.Asn3873=) c.10524T>C (p.Asn3508=) c.11375T>C (p.Met3792Thr) c.6708T>C (p.Asn2236=) c.6261T>C (p.Asn2087=) c.5598T>C (p.Asn1866=) c.10113T>C (p.Asn3371=) | |
| 5 | g.13735877A>T | CA359224875 | DNAH5 | c.11511T>A (p.Asn3837Lys) c.11466T>A (p.Asn3822Lys) c.11619T>A (p.Asn3873Lys) c.10524T>A (p.Asn3508Lys) c.11375T>A (p.Met3792Lys) c.6708T>A (p.Asn2236Lys) c.6261T>A (p.Asn2087Lys) c.5598T>A (p.Asn1866Lys) c.10113T>A (p.Asn3371Lys) | |
| 5 | g.13735878T>A | CA359224877 | DNAH5 | c.11510A>T (p.Asn3837Ile) c.11465A>T (p.Asn3822Ile) c.11618A>T (p.Asn3873Ile) c.10523A>T (p.Asn3508Ile) c.11374A>T (p.Met3792Leu) c.6707A>T (p.Asn2236Ile) c.6260A>T (p.Asn2087Ile) c.5597A>T (p.Asn1866Ile) c.10112A>T (p.Asn3371Ile) | |
| 5 | g.13735878T>C | CA359224884 | DNAH5 | c.11510A>G (p.Asn3837Ser) c.11465A>G (p.Asn3822Ser) c.11618A>G (p.Asn3873Ser) c.10523A>G (p.Asn3508Ser) c.11374A>G (p.Met3792Val) c.6707A>G (p.Asn2236Ser) c.6260A>G (p.Asn2087Ser) c.5597A>G (p.Asn1866Ser) c.10112A>G (p.Asn3371Ser) | gnomAD v4 |
| 5 | g.13735878T>G | CA359224885 | DNAH5 | c.11510A>C (p.Asn3837Thr) c.11465A>C (p.Asn3822Thr) c.11618A>C (p.Asn3873Thr) c.10523A>C (p.Asn3508Thr) c.11374A>C (p.Met3792Leu) c.6707A>C (p.Asn2236Thr) c.6260A>C (p.Asn2087Thr) c.5597A>C (p.Asn1866Thr) c.10112A>C (p.Asn3371Thr) | |
| 5 | g.13735879T>A | CA3201937 | DNAH5 | c.11509A>T (p.Asn3837Tyr) c.11464A>T (p.Asn3822Tyr) c.11617A>T (p.Asn3873Tyr) c.10522A>T (p.Asn3508Tyr) c.11373A>T (p.Leu3791Phe) c.6706A>T (p.Asn2236Tyr) c.6259A>T (p.Asn2087Tyr) c.5596A>T (p.Asn1866Tyr) c.10111A>T (p.Asn3371Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735879T>C | CA359224894 | DNAH5 | c.11509A>G (p.Asn3837Asp) c.11464A>G (p.Asn3822Asp) c.11617A>G (p.Asn3873Asp) c.10522A>G (p.Asn3508Asp) c.11373A>G (p.Leu3791=) c.6706A>G (p.Asn2236Asp) c.6259A>G (p.Asn2087Asp) c.5596A>G (p.Asn1866Asp) c.10111A>G (p.Asn3371Asp) | dbSNP |
| 5 | g.13735879T>G | CA359224898 | DNAH5 | c.11509A>C (p.Asn3837His) c.11464A>C (p.Asn3822His) c.11617A>C (p.Asn3873His) c.10522A>C (p.Asn3508His) c.11373A>C (p.Leu3791Phe) c.6706A>C (p.Asn2236His) c.6259A>C (p.Asn2087His) c.5596A>C (p.Asn1866His) c.10111A>C (p.Asn3371His) | |
| 5 | g.13735879T= | CA1528415122 | DNAH5 | c.11509A= (p.Asn3837=) c.11464A= (p.Asn3822=) c.11617A= (p.Asn3873=) c.10522A= (p.Asn3508=) c.11373A= (p.Leu3791=) c.6706A= (p.Asn2236=) c.6259A= (p.Asn2087=) c.5596A= (p.Asn1866=) c.10111A= (p.Asn3371=) | |
| 5 | g.13735880A>C | CA443260318 | DNAH5 | c.11508T>G (p.Val3836=) c.11463T>G (p.Val3821=) c.11616T>G (p.Val3872=) c.10521T>G (p.Val3507=) c.11372T>G (p.Leu3791Ter) c.6705T>G (p.Val2235=) c.6258T>G (p.Val2086=) c.5595T>G (p.Val1865=) c.10110T>G (p.Val3370=) | |
| 5 | g.13735880A>G | CA443260319 | DNAH5 | c.11508T>C (p.Val3836=) c.11463T>C (p.Val3821=) c.11616T>C (p.Val3872=) c.10521T>C (p.Val3507=) c.11372T>C (p.Leu3791Ser) c.6705T>C (p.Val2235=) c.6258T>C (p.Val2086=) c.5595T>C (p.Val1865=) c.10110T>C (p.Val3370=) | |
| 5 | g.13735880A>T | CA443260320 | DNAH5 | c.11508T>A (p.Val3836=) c.11463T>A (p.Val3821=) c.11616T>A (p.Val3872=) c.10521T>A (p.Val3507=) c.11372T>A (p.Leu3791Ter) c.6705T>A (p.Val2235=) c.6258T>A (p.Val2086=) c.5595T>A (p.Val1865=) c.10110T>A (p.Val3370=) | |
| 5 | g.13735881A>C | CA359224904 | DNAH5 | c.11507T>G (p.Val3836Gly) c.11462T>G (p.Val3821Gly) c.11615T>G (p.Val3872Gly) c.10520T>G (p.Val3507Gly) c.11371T>G (p.Leu3791Val) c.6704T>G (p.Val2235Gly) c.6257T>G (p.Val2086Gly) c.5594T>G (p.Val1865Gly) c.10109T>G (p.Val3370Gly) | |
| 5 | g.13735881A>G | CA359224899 | DNAH5 | c.11507T>C (p.Val3836Ala) c.11462T>C (p.Val3821Ala) c.11615T>C (p.Val3872Ala) c.10520T>C (p.Val3507Ala) c.11371T>C (p.Leu3791=) c.6704T>C (p.Val2235Ala) c.6257T>C (p.Val2086Ala) c.5594T>C (p.Val1865Ala) c.10109T>C (p.Val3370Ala) | |
| 5 | g.13735881A>T | CA359224901 | DNAH5 | c.11507T>A (p.Val3836Asp) c.11462T>A (p.Val3821Asp) c.11615T>A (p.Val3872Asp) c.10520T>A (p.Val3507Asp) c.11371T>A (p.Leu3791Ile) c.6704T>A (p.Val2235Asp) c.6257T>A (p.Val2086Asp) c.5594T>A (p.Val1865Asp) c.10109T>A (p.Val3370Asp) | |
| 5 | g.13735882C>A | CA113927550 | DNAH5 | c.11506G>T (p.Val3836Phe) c.11461G>T (p.Val3821Phe) c.11614G>T (p.Val3872Phe) c.10519G>T (p.Val3507Phe) c.11370G>T (p.Trp3790Cys) c.6703G>T (p.Val2235Phe) c.6256G>T (p.Val2086Phe) c.5593G>T (p.Val1865Phe) c.10108G>T (p.Val3370Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735882C= | CA1528415123 | DNAH5 | c.11506G= (p.Val3836=) c.11461G= (p.Val3821=) c.11614G= (p.Val3872=) c.10519G= (p.Val3507=) c.11370G= (p.Trp3790=) c.6703G= (p.Val2235=) c.6256G= (p.Val2086=) c.5593G= (p.Val1865=) c.10108G= (p.Val3370=) | |
| 5 | g.13735882C>G | CA359224911 | DNAH5 | c.11506G>C (p.Val3836Leu) c.11461G>C (p.Val3821Leu) c.11614G>C (p.Val3872Leu) c.10519G>C (p.Val3507Leu) c.11370G>C (p.Trp3790Cys) c.6703G>C (p.Val2235Leu) c.6256G>C (p.Val2086Leu) c.5593G>C (p.Val1865Leu) c.10108G>C (p.Val3370Leu) | |
| 5 | g.13735882C>T | CA359224916 | DNAH5 | c.11506G>A (p.Val3836Ile) c.11461G>A (p.Val3821Ile) c.11614G>A (p.Val3872Ile) c.10519G>A (p.Val3507Ile) c.11370G>A (p.Trp3790Ter) c.6703G>A (p.Val2235Ile) c.6256G>A (p.Val2086Ile) c.5593G>A (p.Val1865Ile) c.10108G>A (p.Val3370Ile) | |
| 5 | g.13735883C>A | CA359224918 | DNAH5 | c.11505G>T (p.Leu3835Phe) c.11460G>T (p.Leu3820Phe) c.11613G>T (p.Leu3871Phe) c.10518G>T (p.Leu3506Phe) c.11369G>T (p.Trp3790Leu) c.6702G>T (p.Leu2234Phe) c.6255G>T (p.Leu2085Phe) c.5592G>T (p.Leu1864Phe) c.10107G>T (p.Leu3369Phe) | gnomAD v4 |
| 5 | g.13735883C>G | CA359224919 | DNAH5 | c.11505G>C (p.Leu3835Phe) c.11460G>C (p.Leu3820Phe) c.11613G>C (p.Leu3871Phe) c.10518G>C (p.Leu3506Phe) c.11369G>C (p.Trp3790Ser) c.6702G>C (p.Leu2234Phe) c.6255G>C (p.Leu2085Phe) c.5592G>C (p.Leu1864Phe) c.10107G>C (p.Leu3369Phe) | |
| 5 | g.13735883C>T | CA443260322 | DNAH5 | c.11505G>A (p.Leu3835=) c.11460G>A (p.Leu3820=) c.11613G>A (p.Leu3871=) c.10518G>A (p.Leu3506=) c.11369G>A (p.Trp3790Ter) c.6702G>A (p.Leu2234=) c.6255G>A (p.Leu2085=) c.5592G>A (p.Leu1864=) c.10107G>A (p.Leu3369=) | |
| 5 | g.13735884A>C | CA359224920 | DNAH5 | c.11504T>G (p.Leu3835Trp) c.11459T>G (p.Leu3820Trp) c.11612T>G (p.Leu3871Trp) c.10517T>G (p.Leu3506Trp) c.11368T>G (p.Trp3790Gly) c.6701T>G (p.Leu2234Trp) c.6254T>G (p.Leu2085Trp) c.5591T>G (p.Leu1864Trp) c.10106T>G (p.Leu3369Trp) | |
| 5 | g.13735884A>G | CA359224921 | DNAH5 | c.11504T>C (p.Leu3835Ser) c.11459T>C (p.Leu3820Ser) c.11612T>C (p.Leu3871Ser) c.10517T>C (p.Leu3506Ser) c.11368T>C (p.Trp3790Arg) c.6701T>C (p.Leu2234Ser) c.6254T>C (p.Leu2085Ser) c.5591T>C (p.Leu1864Ser) c.10106T>C (p.Leu3369Ser) | |
| 5 | g.13735884A>T | CA359224924 | DNAH5 | c.11504T>A (p.Leu3835Ter) c.11459T>A (p.Leu3820Ter) c.11612T>A (p.Leu3871Ter) c.10517T>A (p.Leu3506Ter) c.11368T>A (p.Trp3790Arg) c.6701T>A (p.Leu2234Ter) c.6254T>A (p.Leu2085Ter) c.5591T>A (p.Leu1864Ter) c.10106T>A (p.Leu3369Ter) | |
| 5 | g.13735885A>C | CA359224925 | DNAH5 | c.11503T>G (p.Leu3835Val) c.11458T>G (p.Leu3820Val) c.11611T>G (p.Leu3871Val) c.10516T>G (p.Leu3506Val) c.11367T>G (p.Ala3789=) c.6700T>G (p.Leu2234Val) c.6253T>G (p.Leu2085Val) c.5590T>G (p.Leu1864Val) c.10105T>G (p.Leu3369Val) | |
| 5 | g.13735885A>G | CA443260323 | DNAH5 | c.11503T>C (p.Leu3835=) c.11458T>C (p.Leu3820=) c.11611T>C (p.Leu3871=) c.10516T>C (p.Leu3506=) c.11367T>C (p.Ala3789=) c.6700T>C (p.Leu2234=) c.6253T>C (p.Leu2085=) c.5590T>C (p.Leu1864=) c.10105T>C (p.Leu3369=) | |
| 5 | g.13735885A>T | CA359224926 | DNAH5 | c.11503T>A (p.Leu3835Met) c.11458T>A (p.Leu3820Met) c.11611T>A (p.Leu3871Met) c.10516T>A (p.Leu3506Met) c.11367T>A (p.Ala3789=) c.6700T>A (p.Leu2234Met) c.6253T>A (p.Leu2085Met) c.5590T>A (p.Leu1864Met) c.10105T>A (p.Leu3369Met) | |
| 5 | g.13735886G>A | CA443260325 | DNAH5 | c.11502C>T (p.Arg3834=) c.11457C>T (p.Arg3819=) c.11610C>T (p.Arg3870=) c.10515C>T (p.Arg3505=) c.11366C>T (p.Ala3789Val) c.6699C>T (p.Arg2233=) c.6252C>T (p.Arg2084=) c.5589C>T (p.Arg1863=) c.10104C>T (p.Arg3368=) | |
| 5 | g.13735886G>C | CA443260326 | DNAH5 | c.11502C>G (p.Arg3834=) c.11457C>G (p.Arg3819=) c.11610C>G (p.Arg3870=) c.10515C>G (p.Arg3505=) c.11366C>G (p.Ala3789Gly) c.6699C>G (p.Arg2233=) c.6252C>G (p.Arg2084=) c.5589C>G (p.Arg1863=) c.10104C>G (p.Arg3368=) | |
| 5 | g.13735886G>T | CA443260324 | DNAH5 | c.11502C>A (p.Arg3834=) c.11457C>A (p.Arg3819=) c.11610C>A (p.Arg3870=) c.10515C>A (p.Arg3505=) c.11366C>A (p.Ala3789Asp) c.6699C>A (p.Arg2233=) c.6252C>A (p.Arg2084=) c.5589C>A (p.Arg1863=) c.10104C>A (p.Arg3368=) | |
| 5 | g.13735887C>A | CA359224927 | DNAH5 | c.11501G>T (p.Arg3834Leu) c.11456G>T (p.Arg3819Leu) c.11609G>T (p.Arg3870Leu) c.10514G>T (p.Arg3505Leu) c.11365G>T (p.Ala3789Ser) c.6698G>T (p.Arg2233Leu) c.6251G>T (p.Arg2084Leu) c.5588G>T (p.Arg1863Leu) c.10103G>T (p.Arg3368Leu) | |
| 5 | g.13735887C= | CA1528415124 | DNAH5 | c.11501G= (p.Arg3834=) c.11456G= (p.Arg3819=) c.11609G= (p.Arg3870=) c.10514G= (p.Arg3505=) c.11365G= (p.Ala3789=) c.6698G= (p.Arg2233=) c.6251G= (p.Arg2084=) c.5588G= (p.Arg1863=) c.10103G= (p.Arg3368=) | |
| 5 | g.13735887C>G | CA359224934 | DNAH5 | c.11501G>C (p.Arg3834Pro) c.11456G>C (p.Arg3819Pro) c.11609G>C (p.Arg3870Pro) c.10514G>C (p.Arg3505Pro) c.11365G>C (p.Ala3789Pro) c.6698G>C (p.Arg2233Pro) c.6251G>C (p.Arg2084Pro) c.5588G>C (p.Arg1863Pro) c.10103G>C (p.Arg3368Pro) | gnomAD v4 |
| 5 | g.13735887C>T | CA3201938 | DNAH5 | c.11501G>A (p.Arg3834His) c.11456G>A (p.Arg3819His) c.11609G>A (p.Arg3870His) c.10514G>A (p.Arg3505His) c.11365G>A (p.Ala3789Thr) c.6698G>A (p.Arg2233His) c.6251G>A (p.Arg2084His) c.5588G>A (p.Arg1863His) c.10103G>A (p.Arg3368His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13735888G>A | CA359224935 | DNAH5 | c.11500C>T (p.Arg3834Cys) c.11455C>T (p.Arg3819Cys) c.11608C>T (p.Arg3870Cys) c.10513C>T (p.Arg3505Cys) c.11364C>T (p.Cys3788=) c.6697C>T (p.Arg2233Cys) c.6250C>T (p.Arg2084Cys) c.5587C>T (p.Arg1863Cys) c.10102C>T (p.Arg3368Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13735888G>C | CA359224936 | DNAH5 | c.11500C>G (p.Arg3834Gly) c.11455C>G (p.Arg3819Gly) c.11608C>G (p.Arg3870Gly) c.10513C>G (p.Arg3505Gly) c.11364C>G (p.Cys3788Trp) c.6697C>G (p.Arg2233Gly) c.6250C>G (p.Arg2084Gly) c.5587C>G (p.Arg1863Gly) c.10102C>G (p.Arg3368Gly) | gnomAD v4 |
| 5 | g.13735888G= | CA1528415125 | DNAH5 | c.11500C= (p.Arg3834=) c.11455C= (p.Arg3819=) c.11608C= (p.Arg3870=) c.10513C= (p.Arg3505=) c.11364C= (p.Cys3788=) c.6697C= (p.Arg2233=) c.6250C= (p.Arg2084=) c.5587C= (p.Arg1863=) c.10102C= (p.Arg3368=) | |
| 5 | g.13735888G>T | CA359224944 | DNAH5 | c.11500C>A (p.Arg3834Ser) c.11455C>A (p.Arg3819Ser) c.11608C>A (p.Arg3870Ser) c.10513C>A (p.Arg3505Ser) c.11364C>A (p.Cys3788Ter) c.6697C>A (p.Arg2233Ser) c.6250C>A (p.Arg2084Ser) c.5587C>A (p.Arg1863Ser) c.10102C>A (p.Arg3368Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13735889C>A | CA359224947 | DNAH5 | c.11499G>T (p.Met3833Ile) c.11454G>T (p.Met3818Ile) c.11607G>T (p.Met3869Ile) c.10512G>T (p.Met3504Ile) c.11363G>T (p.Cys3788Phe) c.6696G>T (p.Met2232Ile) c.6249G>T (p.Met2083Ile) c.5586G>T (p.Met1862Ile) c.10101G>T (p.Met3367Ile) | |
| 5 | g.13735889C= | CA1528415126 | DNAH5 | c.11499G= (p.Met3833=) c.11454G= (p.Met3818=) c.11607G= (p.Met3869=) c.10512G= (p.Met3504=) c.11363G= (p.Cys3788=) c.6696G= (p.Met2232=) c.6249G= (p.Met2083=) c.5586G= (p.Met1862=) c.10101G= (p.Met3367=) | |
| 5 | g.13735889C>G | CA359224955 | DNAH5 | c.11499G>C (p.Met3833Ile) c.11454G>C (p.Met3818Ile) c.11607G>C (p.Met3869Ile) c.10512G>C (p.Met3504Ile) c.11363G>C (p.Cys3788Ser) c.6696G>C (p.Met2232Ile) c.6249G>C (p.Met2083Ile) c.5586G>C (p.Met1862Ile) c.10101G>C (p.Met3367Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13735889C>T | CA3201939 | DNAH5 | c.11499G>A (p.Met3833Ile) c.11454G>A (p.Met3818Ile) c.11607G>A (p.Met3869Ile) c.10512G>A (p.Met3504Ile) c.11363G>A (p.Cys3788Tyr) c.6696G>A (p.Met2232Ile) c.6249G>A (p.Met2083Ile) c.5586G>A (p.Met1862Ile) c.10101G>A (p.Met3367Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735890A>C | CA359224971 | DNAH5 | c.11498T>G (p.Met3833Arg) c.11453T>G (p.Met3818Arg) c.11606T>G (p.Met3869Arg) c.10511T>G (p.Met3504Arg) c.11362T>G (p.Cys3788Gly) c.6695T>G (p.Met2232Arg) c.6248T>G (p.Met2083Arg) c.5585T>G (p.Met1862Arg) c.10100T>G (p.Met3367Arg) | |
| 5 | g.13735890A>G | CA359224973 | DNAH5 | c.11498T>C (p.Met3833Thr) c.11453T>C (p.Met3818Thr) c.11606T>C (p.Met3869Thr) c.10511T>C (p.Met3504Thr) c.11362T>C (p.Cys3788Arg) c.6695T>C (p.Met2232Thr) c.6248T>C (p.Met2083Thr) c.5585T>C (p.Met1862Thr) c.10100T>C (p.Met3367Thr) | gnomAD v4 |
| 5 | g.13735890A>T | CA359224974 | DNAH5 | c.11498T>A (p.Met3833Lys) c.11453T>A (p.Met3818Lys) c.11606T>A (p.Met3869Lys) c.10511T>A (p.Met3504Lys) c.11362T>A (p.Cys3788Ser) c.6695T>A (p.Met2232Lys) c.6248T>A (p.Met2083Lys) c.5585T>A (p.Met1862Lys) c.10100T>A (p.Met3367Lys) | |
| 5 | g.13735891T>A | CA3201940 | DNAH5 | c.11497A>T (p.Met3833Leu) c.11452A>T (p.Met3818Leu) c.11605A>T (p.Met3869Leu) c.10510A>T (p.Met3504Leu) c.11361A>T (p.Arg3787Ser) c.6694A>T (p.Met2232Leu) c.6247A>T (p.Met2083Leu) c.5584A>T (p.Met1862Leu) c.10099A>T (p.Met3367Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735891T>C | CA359224976 | DNAH5 | c.11497A>G (p.Met3833Val) c.11452A>G (p.Met3818Val) c.11605A>G (p.Met3869Val) c.10510A>G (p.Met3504Val) c.11361A>G (p.Arg3787=) c.6694A>G (p.Met2232Val) c.6247A>G (p.Met2083Val) c.5584A>G (p.Met1862Val) c.10099A>G (p.Met3367Val) | |
| 5 | g.13735891T>G | CA359224978 | DNAH5 | c.11497A>C (p.Met3833Leu) c.11452A>C (p.Met3818Leu) c.11605A>C (p.Met3869Leu) c.10510A>C (p.Met3504Leu) c.11361A>C (p.Arg3787Ser) c.6694A>C (p.Met2232Leu) c.6247A>C (p.Met2083Leu) c.5584A>C (p.Met1862Leu) c.10099A>C (p.Met3367Leu) | |
| 5 | g.13735891T= | CA1528415127 | DNAH5 | c.11497A= (p.Met3833=) c.11452A= (p.Met3818=) c.11605A= (p.Met3869=) c.10510A= (p.Met3504=) c.11361A= (p.Arg3787=) c.6694A= (p.Met2232=) c.6247A= (p.Met2083=) c.5584A= (p.Met1862=) c.10099A= (p.Met3367=) | |
| 5 | g.13735893_13735894del | CA2580613517 | DNAH5 | c.11496_11497del (p.Glu3832AspfsTer5) c.11451_11452del (p.Glu3817AspfsTer5) c.11604_11605del (p.Glu3868AspfsTer5) c.10509_10510del (p.Glu3503AspfsTer5) c.11360_11361del (p.Arg3787MetfsTer?) c.6693_6694del (p.Glu2231AspfsTer5) c.6246_6247del (p.Glu2082AspfsTer5) c.5583_5584del (p.Glu1861AspfsTer5) c.10098_10099del (p.Glu3366AspfsTer5) | ClinVar |
| 5 | g.13735892C>A | CA359224984 | DNAH5 | c.11496G>T (p.Glu3832Asp) c.11451G>T (p.Glu3817Asp) c.11604G>T (p.Glu3868Asp) c.10509G>T (p.Glu3503Asp) c.11360G>T (p.Arg3787Ile) c.6693G>T (p.Glu2231Asp) c.6246G>T (p.Glu2082Asp) c.5583G>T (p.Glu1861Asp) c.10098G>T (p.Glu3366Asp) | |
| 5 | g.13735892C>G | CA359224982 | DNAH5 | c.11496G>C (p.Glu3832Asp) c.11451G>C (p.Glu3817Asp) c.11604G>C (p.Glu3868Asp) c.10509G>C (p.Glu3503Asp) c.11360G>C (p.Arg3787Thr) c.6693G>C (p.Glu2231Asp) c.6246G>C (p.Glu2082Asp) c.5583G>C (p.Glu1861Asp) c.10098G>C (p.Glu3366Asp) | |
| 5 | g.13735892C>T | CA443260331 | DNAH5 | c.11496G>A (p.Glu3832=) c.11451G>A (p.Glu3817=) c.11604G>A (p.Glu3868=) c.10509G>A (p.Glu3503=) c.11360G>A (p.Arg3787Lys) c.6693G>A (p.Glu2231=) c.6246G>A (p.Glu2082=) c.5583G>A (p.Glu1861=) c.10098G>A (p.Glu3366=) | |
| 5 | g.13735893T>A | CA359224990 | DNAH5 | c.11495A>T (p.Glu3832Val) c.11450A>T (p.Glu3817Val) c.11603A>T (p.Glu3868Val) c.10508A>T (p.Glu3503Val) c.11359A>T (p.Arg3787Ter) c.6692A>T (p.Glu2231Val) c.6245A>T (p.Glu2082Val) c.5582A>T (p.Glu1861Val) c.10097A>T (p.Glu3366Val) | |
| 5 | g.13735893T>C | CA359224993 | DNAH5 | c.11495A>G (p.Glu3832Gly) c.11450A>G (p.Glu3817Gly) c.11603A>G (p.Glu3868Gly) c.10508A>G (p.Glu3503Gly) c.11359A>G (p.Arg3787Gly) c.6692A>G (p.Glu2231Gly) c.6245A>G (p.Glu2082Gly) c.5582A>G (p.Glu1861Gly) c.10097A>G (p.Glu3366Gly) | |
| 5 | g.13735893T>G | CA359224995 | DNAH5 | c.11495A>C (p.Glu3832Ala) c.11450A>C (p.Glu3817Ala) c.11603A>C (p.Glu3868Ala) c.10508A>C (p.Glu3503Ala) c.11359A>C (p.Arg3787=) c.6692A>C (p.Glu2231Ala) c.6245A>C (p.Glu2082Ala) c.5582A>C (p.Glu1861Ala) c.10097A>C (p.Glu3366Ala) | |
| 5 | g.13735894C>A | CA359224998 | DNAH5 | c.11494G>T (p.Glu3832Ter) c.11449G>T (p.Glu3817Ter) c.11602G>T (p.Glu3868Ter) c.10507G>T (p.Glu3503Ter) c.11358G>T (p.Leu3786=) c.6691G>T (p.Glu2231Ter) c.6244G>T (p.Glu2082Ter) c.5581G>T (p.Glu1861Ter) c.10096G>T (p.Glu3366Ter) | |
| 5 | g.13735894C>G | CA359225001 | DNAH5 | c.11494G>C (p.Glu3832Gln) c.11449G>C (p.Glu3817Gln) c.11602G>C (p.Glu3868Gln) c.10507G>C (p.Glu3503Gln) c.11358G>C (p.Leu3786=) c.6691G>C (p.Glu2231Gln) c.6244G>C (p.Glu2082Gln) c.5581G>C (p.Glu1861Gln) c.10096G>C (p.Glu3366Gln) | |
| 5 | g.13735894C>T | CA359225003 | DNAH5 | c.11494G>A (p.Glu3832Lys) c.11449G>A (p.Glu3817Lys) c.11602G>A (p.Glu3868Lys) c.10507G>A (p.Glu3503Lys) c.11358G>A (p.Leu3786=) c.6691G>A (p.Glu2231Lys) c.6244G>A (p.Glu2082Lys) c.5581G>A (p.Glu1861Lys) c.10096G>A (p.Glu3366Lys) | COSMIC |
| 5 | g.13735895A= | CA1528415128 | DNAH5 | c.11493T= (p.Thr3831=) c.11448T= (p.Thr3816=) c.11601T= (p.Thr3867=) c.10506T= (p.Thr3502=) c.11357T= (p.Leu3786=) c.6690T= (p.Thr2230=) c.6243T= (p.Thr2081=) c.5580T= (p.Thr1860=) c.10095T= (p.Thr3365=) | |
| 5 | g.13735895A>C | CA443260332 | DNAH5 | c.11493T>G (p.Thr3831=) c.11448T>G (p.Thr3816=) c.11601T>G (p.Thr3867=) c.10506T>G (p.Thr3502=) c.11357T>G (p.Leu3786Arg) c.6690T>G (p.Thr2230=) c.6243T>G (p.Thr2081=) c.5580T>G (p.Thr1860=) c.10095T>G (p.Thr3365=) | gnomAD v4 |
| 5 | g.13735895A>G | CA443260333 | DNAH5 | c.11493T>C (p.Thr3831=) c.11448T>C (p.Thr3816=) c.11601T>C (p.Thr3867=) c.10506T>C (p.Thr3502=) c.11357T>C (p.Leu3786Pro) c.6690T>C (p.Thr2230=) c.6243T>C (p.Thr2081=) c.5580T>C (p.Thr1860=) c.10095T>C (p.Thr3365=) | dbSNP |
| 5 | g.13735895A>T | CA443260334 | DNAH5 | c.11493T>A (p.Thr3831=) c.11448T>A (p.Thr3816=) c.11601T>A (p.Thr3867=) c.10506T>A (p.Thr3502=) c.11357T>A (p.Leu3786Gln) c.6690T>A (p.Thr2230=) c.6243T>A (p.Thr2081=) c.5580T>A (p.Thr1860=) c.10095T>A (p.Thr3365=) | |
| 5 | g.13735896G>A | CA359225008 | DNAH5 | c.11492C>T (p.Thr3831Ile) c.11447C>T (p.Thr3816Ile) c.11600C>T (p.Thr3867Ile) c.10505C>T (p.Thr3502Ile) c.11356C>T (p.Leu3786=) c.6689C>T (p.Thr2230Ile) c.6242C>T (p.Thr2081Ile) c.5579C>T (p.Thr1860Ile) c.10094C>T (p.Thr3365Ile) | gnomAD v4 |
| 5 | g.13735896G>C | CA3201941 | DNAH5 | c.11492C>G (p.Thr3831Ser) c.11447C>G (p.Thr3816Ser) c.11600C>G (p.Thr3867Ser) c.10505C>G (p.Thr3502Ser) c.11356C>G (p.Leu3786Val) c.6689C>G (p.Thr2230Ser) c.6242C>G (p.Thr2081Ser) c.5579C>G (p.Thr1860Ser) c.10094C>G (p.Thr3365Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735896G= | CA1528415129 | DNAH5 | c.11492C= (p.Thr3831=) c.11447C= (p.Thr3816=) c.11600C= (p.Thr3867=) c.10505C= (p.Thr3502=) c.11356C= (p.Leu3786=) c.6689C= (p.Thr2230=) c.6242C= (p.Thr2081=) c.5579C= (p.Thr1860=) c.10094C= (p.Thr3365=) | |
| 5 | g.13735896G>T | CA359225011 | DNAH5 | c.11492C>A (p.Thr3831Asn) c.11447C>A (p.Thr3816Asn) c.11600C>A (p.Thr3867Asn) c.10505C>A (p.Thr3502Asn) c.11356C>A (p.Leu3786Met) c.6689C>A (p.Thr2230Asn) c.6242C>A (p.Thr2081Asn) c.5579C>A (p.Thr1860Asn) c.10094C>A (p.Thr3365Asn) | |
| 5 | g.13735897T>A | CA359225024 | DNAH5 | c.11491A>T (p.Thr3831Ser) c.11446A>T (p.Thr3816Ser) c.11599A>T (p.Thr3867Ser) c.10504A>T (p.Thr3502Ser) c.11355A>T (p.Leu3785Phe) c.6688A>T (p.Thr2230Ser) c.6241A>T (p.Thr2081Ser) c.5578A>T (p.Thr1860Ser) c.10093A>T (p.Thr3365Ser) | |
| 5 | g.13735897T>C | CA359225026 | DNAH5 | c.11491A>G (p.Thr3831Ala) c.11446A>G (p.Thr3816Ala) c.11599A>G (p.Thr3867Ala) c.10504A>G (p.Thr3502Ala) c.11355A>G (p.Leu3785=) c.6688A>G (p.Thr2230Ala) c.6241A>G (p.Thr2081Ala) c.5578A>G (p.Thr1860Ala) c.10093A>G (p.Thr3365Ala) | |
| 5 | g.13735897T>G | CA359225029 | DNAH5 | c.11491A>C (p.Thr3831Pro) c.11446A>C (p.Thr3816Pro) c.11599A>C (p.Thr3867Pro) c.10504A>C (p.Thr3502Pro) c.11355A>C (p.Leu3785Phe) c.6688A>C (p.Thr2230Pro) c.6241A>C (p.Thr2081Pro) c.5578A>C (p.Thr1860Pro) c.10093A>C (p.Thr3365Pro) | |
| 5 | g.13735898A>C | CA359225037 | DNAH5 | c.11490T>G (p.Ile3830Met) c.11445T>G (p.Ile3815Met) c.11598T>G (p.Ile3866Met) c.10503T>G (p.Ile3501Met) c.11354T>G (p.Leu3785Ter) c.6687T>G (p.Ile2229Met) c.6240T>G (p.Ile2080Met) c.5577T>G (p.Ile1859Met) c.10092T>G (p.Ile3364Met) | |
| 5 | g.13735898A>G | CA443260336 | DNAH5 | c.11490T>C (p.Ile3830=) c.11445T>C (p.Ile3815=) c.11598T>C (p.Ile3866=) c.10503T>C (p.Ile3501=) c.11354T>C (p.Leu3785Ser) c.6687T>C (p.Ile2229=) c.6240T>C (p.Ile2080=) c.5577T>C (p.Ile1859=) c.10092T>C (p.Ile3364=) | |
| 5 | g.13735898A>T | CA443260337 | DNAH5 | c.11490T>A (p.Ile3830=) c.11445T>A (p.Ile3815=) c.11598T>A (p.Ile3866=) c.10503T>A (p.Ile3501=) c.11354T>A (p.Leu3785Ter) c.6687T>A (p.Ile2229=) c.6240T>A (p.Ile2080=) c.5577T>A (p.Ile1859=) c.10092T>A (p.Ile3364=) | |
| 5 | g.13735899A>C | CA359225047 | DNAH5 | c.11489T>G (p.Ile3830Ser) c.11444T>G (p.Ile3815Ser) c.11597T>G (p.Ile3866Ser) c.10502T>G (p.Ile3501Ser) c.11353T>G (p.Leu3785Val) c.6686T>G (p.Ile2229Ser) c.6239T>G (p.Ile2080Ser) c.5576T>G (p.Ile1859Ser) c.10091T>G (p.Ile3364Ser) | |
| 5 | g.13735899A>G | CA359225043 | DNAH5 | c.11489T>C (p.Ile3830Thr) c.11444T>C (p.Ile3815Thr) c.11597T>C (p.Ile3866Thr) c.10502T>C (p.Ile3501Thr) c.11353T>C (p.Leu3785=) c.6686T>C (p.Ile2229Thr) c.6239T>C (p.Ile2080Thr) c.5576T>C (p.Ile1859Thr) c.10091T>C (p.Ile3364Thr) | |
| 5 | g.13735899A>T | CA359225041 | DNAH5 | c.11489T>A (p.Ile3830Asn) c.11444T>A (p.Ile3815Asn) c.11597T>A (p.Ile3866Asn) c.10502T>A (p.Ile3501Asn) c.11353T>A (p.Leu3785Ile) c.6686T>A (p.Ile2229Asn) c.6239T>A (p.Ile2080Asn) c.5576T>A (p.Ile1859Asn) c.10091T>A (p.Ile3364Asn) | |
| 5 | g.13735900T>A | CA359225057 | DNAH5 | c.11488A>T (p.Ile3830Phe) c.11443A>T (p.Ile3815Phe) c.11596A>T (p.Ile3866Phe) c.10501A>T (p.Ile3501Phe) c.11352A>T (p.Ser3784=) c.6685A>T (p.Ile2229Phe) c.6238A>T (p.Ile2080Phe) c.5575A>T (p.Ile1859Phe) c.10090A>T (p.Ile3364Phe) | |
| 5 | g.13735900T>C | CA359225065 | DNAH5 | c.11488A>G (p.Ile3830Val) c.11443A>G (p.Ile3815Val) c.11596A>G (p.Ile3866Val) c.10501A>G (p.Ile3501Val) c.11352A>G (p.Ser3784=) c.6685A>G (p.Ile2229Val) c.6238A>G (p.Ile2080Val) c.5575A>G (p.Ile1859Val) c.10090A>G (p.Ile3364Val) | dbSNP |
| 5 | g.13735900T>G | CA359225069 | DNAH5 | c.11488A>C (p.Ile3830Leu) c.11443A>C (p.Ile3815Leu) c.11596A>C (p.Ile3866Leu) c.10501A>C (p.Ile3501Leu) c.11352A>C (p.Ser3784=) c.6685A>C (p.Ile2229Leu) c.6238A>C (p.Ile2080Leu) c.5575A>C (p.Ile1859Leu) c.10090A>C (p.Ile3364Leu) | dbSNP gnomAD v4 |
| 5 | g.13735900T= | CA1528415130 | DNAH5 | c.11488A= (p.Ile3830=) c.11443A= (p.Ile3815=) c.11596A= (p.Ile3866=) c.10501A= (p.Ile3501=) c.11352A= (p.Ser3784=) c.6685A= (p.Ile2229=) c.6238A= (p.Ile2080=) c.5575A= (p.Ile1859=) c.10090A= (p.Ile3364=) | |
| 5 | g.13735901G>A | CA443260338 | DNAH5 | c.11487C>T (p.Leu3829=) c.11442C>T (p.Leu3814=) c.11595C>T (p.Leu3865=) c.10500C>T (p.Leu3500=) c.11351C>T (p.Ser3784Leu) c.6684C>T (p.Leu2228=) c.6237C>T (p.Leu2079=) c.5574C>T (p.Leu1858=) c.10089C>T (p.Leu3363=) | gnomAD v4 |
| 5 | g.13735901G>C | CA443260339 | DNAH5 | c.11487C>G (p.Leu3829=) c.11442C>G (p.Leu3814=) c.11595C>G (p.Leu3865=) c.10500C>G (p.Leu3500=) c.11351C>G (p.Ser3784Ter) c.6684C>G (p.Leu2228=) c.6237C>G (p.Leu2079=) c.5574C>G (p.Leu1858=) c.10089C>G (p.Leu3363=) | ClinVar gnomAD v4 |
| 5 | g.13735901G>T | CA443260340 | DNAH5 | c.11487C>A (p.Leu3829=) c.11442C>A (p.Leu3814=) c.11595C>A (p.Leu3865=) c.10500C>A (p.Leu3500=) c.11351C>A (p.Ser3784Ter) c.6684C>A (p.Leu2228=) c.6237C>A (p.Leu2079=) c.5574C>A (p.Leu1858=) c.10089C>A (p.Leu3363=) | |
| 5 | g.13735902A>C | CA359225072 | DNAH5 | c.11486T>G (p.Leu3829Arg) c.11441T>G (p.Leu3814Arg) c.11594T>G (p.Leu3865Arg) c.10499T>G (p.Leu3500Arg) c.11350T>G (p.Ser3784Ala) c.6683T>G (p.Leu2228Arg) c.6236T>G (p.Leu2079Arg) c.5573T>G (p.Leu1858Arg) c.10088T>G (p.Leu3363Arg) | |
| 5 | g.13735902A>G | CA359225075 | DNAH5 | c.11486T>C (p.Leu3829Pro) c.11441T>C (p.Leu3814Pro) c.11594T>C (p.Leu3865Pro) c.10499T>C (p.Leu3500Pro) c.11350T>C (p.Ser3784Pro) c.6683T>C (p.Leu2228Pro) c.6236T>C (p.Leu2079Pro) c.5573T>C (p.Leu1858Pro) c.10088T>C (p.Leu3363Pro) | |
| 5 | g.13735902A>T | CA359225078 | DNAH5 | c.11486T>A (p.Leu3829His) c.11441T>A (p.Leu3814His) c.11594T>A (p.Leu3865His) c.10499T>A (p.Leu3500His) c.11350T>A (p.Ser3784Thr) c.6683T>A (p.Leu2228His) c.6236T>A (p.Leu2079His) c.5573T>A (p.Leu1858His) c.10088T>A (p.Leu3363His) | |
| 5 | g.13735903G>A | CA359225097 | DNAH5 | c.11485C>T (p.Leu3829Phe) c.11440C>T (p.Leu3814Phe) c.11593C>T (p.Leu3865Phe) c.10498C>T (p.Leu3500Phe) c.11349C>T (p.Ser3783=) c.6682C>T (p.Leu2228Phe) c.6235C>T (p.Leu2079Phe) c.5572C>T (p.Leu1858Phe) c.10087C>T (p.Leu3363Phe) | |
| 5 | g.13735903G>C | CA359225079 | DNAH5 | c.11485C>G (p.Leu3829Val) c.11440C>G (p.Leu3814Val) c.11593C>G (p.Leu3865Val) c.10498C>G (p.Leu3500Val) c.11349C>G (p.Ser3783=) c.6682C>G (p.Leu2228Val) c.6235C>G (p.Leu2079Val) c.5572C>G (p.Leu1858Val) c.10087C>G (p.Leu3363Val) | |
| 5 | g.13735903G>T | CA359225082 | DNAH5 | c.11485C>A (p.Leu3829Ile) c.11440C>A (p.Leu3814Ile) c.11593C>A (p.Leu3865Ile) c.10498C>A (p.Leu3500Ile) c.11349C>A (p.Ser3783=) c.6682C>A (p.Leu2228Ile) c.6235C>A (p.Leu2079Ile) c.5572C>A (p.Leu1858Ile) c.10087C>A (p.Leu3363Ile) | |
| 5 | g.13735904G>A | CA443260344 | DNAH5 | c.11484C>T (p.Phe3828=) c.11439C>T (p.Phe3813=) c.11592C>T (p.Phe3864=) c.10497C>T (p.Phe3499=) c.11348C>T (p.Ser3783Phe) c.6681C>T (p.Phe2227=) c.6234C>T (p.Phe2078=) c.5571C>T (p.Phe1857=) c.10086C>T (p.Phe3362=) | |
| 5 | g.13735904G>C | CA359225100 | DNAH5 | c.11484C>G (p.Phe3828Leu) c.11439C>G (p.Phe3813Leu) c.11592C>G (p.Phe3864Leu) c.10497C>G (p.Phe3499Leu) c.11348C>G (p.Ser3783Cys) c.6681C>G (p.Phe2227Leu) c.6234C>G (p.Phe2078Leu) c.5571C>G (p.Phe1857Leu) c.10086C>G (p.Phe3362Leu) | |
| 5 | g.13735904G>T | CA359225103 | DNAH5 | c.11484C>A (p.Phe3828Leu) c.11439C>A (p.Phe3813Leu) c.11592C>A (p.Phe3864Leu) c.10497C>A (p.Phe3499Leu) c.11348C>A (p.Ser3783Tyr) c.6681C>A (p.Phe2227Leu) c.6234C>A (p.Phe2078Leu) c.5571C>A (p.Phe1857Leu) c.10086C>A (p.Phe3362Leu) | |
| 5 | g.13735905A>C | CA359225107 | DNAH5 | c.11483T>G (p.Phe3828Cys) c.11438T>G (p.Phe3813Cys) c.11591T>G (p.Phe3864Cys) c.10496T>G (p.Phe3499Cys) c.11347T>G (p.Ser3783Ala) c.6680T>G (p.Phe2227Cys) c.6233T>G (p.Phe2078Cys) c.5570T>G (p.Phe1857Cys) c.10085T>G (p.Phe3362Cys) | |
| 5 | g.13735905A>G | CA359225122 | DNAH5 | c.11483T>C (p.Phe3828Ser) c.11438T>C (p.Phe3813Ser) c.11591T>C (p.Phe3864Ser) c.10496T>C (p.Phe3499Ser) c.11347T>C (p.Ser3783Pro) c.6680T>C (p.Phe2227Ser) c.6233T>C (p.Phe2078Ser) c.5570T>C (p.Phe1857Ser) c.10085T>C (p.Phe3362Ser) | |
| 5 | g.13735905A>T | CA359225135 | DNAH5 | c.11483T>A (p.Phe3828Tyr) c.11438T>A (p.Phe3813Tyr) c.11591T>A (p.Phe3864Tyr) c.10496T>A (p.Phe3499Tyr) c.11347T>A (p.Ser3783Thr) c.6680T>A (p.Phe2227Tyr) c.6233T>A (p.Phe2078Tyr) c.5570T>A (p.Phe1857Tyr) c.10085T>A (p.Phe3362Tyr) | |
| 5 | g.13735906A>C | CA359225152 | DNAH5 | c.11482T>G (p.Phe3828Val) c.11437T>G (p.Phe3813Val) c.11590T>G (p.Phe3864Val) c.10495T>G (p.Phe3499Val) c.11346T>G (p.Thr3782=) c.6679T>G (p.Phe2227Val) c.6232T>G (p.Phe2078Val) c.5569T>G (p.Phe1857Val) c.10084T>G (p.Phe3362Val) | |
| 5 | g.13735906A>G | CA359225141 | DNAH5 | c.11482T>C (p.Phe3828Leu) c.11437T>C (p.Phe3813Leu) c.11590T>C (p.Phe3864Leu) c.10495T>C (p.Phe3499Leu) c.11346T>C (p.Thr3782=) c.6679T>C (p.Phe2227Leu) c.6232T>C (p.Phe2078Leu) c.5569T>C (p.Phe1857Leu) c.10084T>C (p.Phe3362Leu) | |
| 5 | g.13735906A>T | CA359225145 | DNAH5 | c.11482T>A (p.Phe3828Ile) c.11437T>A (p.Phe3813Ile) c.11590T>A (p.Phe3864Ile) c.10495T>A (p.Phe3499Ile) c.11346T>A (p.Thr3782=) c.6679T>A (p.Phe2227Ile) c.6232T>A (p.Phe2078Ile) c.5569T>A (p.Phe1857Ile) c.10084T>A (p.Phe3362Ile) | |
| 5 | g.13735907G>A | CA443260349 | DNAH5 | c.11481C>T (p.Tyr3827=) c.11436C>T (p.Tyr3812=) c.11589C>T (p.Tyr3863=) c.10494C>T (p.Tyr3498=) c.11345C>T (p.Thr3782Ile) c.6678C>T (p.Tyr2226=) c.6231C>T (p.Tyr2077=) c.5568C>T (p.Tyr1856=) c.10083C>T (p.Tyr3361=) | ClinVar dbSNP |
| 5 | g.13735907G>C | CA359225158 | DNAH5 | c.11481C>G (p.Tyr3827Ter) c.11436C>G (p.Tyr3812Ter) c.11589C>G (p.Tyr3863Ter) c.10494C>G (p.Tyr3498Ter) c.11345C>G (p.Thr3782Ser) c.6678C>G (p.Tyr2226Ter) c.6231C>G (p.Tyr2077Ter) c.5568C>G (p.Tyr1856Ter) c.10083C>G (p.Tyr3361Ter) | |
| 5 | g.13735907G>T | CA359225160 | DNAH5 | c.11481C>A (p.Tyr3827Ter) c.11436C>A (p.Tyr3812Ter) c.11589C>A (p.Tyr3863Ter) c.10494C>A (p.Tyr3498Ter) c.11345C>A (p.Thr3782Asn) c.6678C>A (p.Tyr2226Ter) c.6231C>A (p.Tyr2077Ter) c.5568C>A (p.Tyr1856Ter) c.10083C>A (p.Tyr3361Ter) | |
| 5 | g.13735908T>A | CA359225166 | DNAH5 | c.11480A>T (p.Tyr3827Phe) c.11435A>T (p.Tyr3812Phe) c.11588A>T (p.Tyr3863Phe) c.10493A>T (p.Tyr3498Phe) c.11344A>T (p.Thr3782Ser) c.6677A>T (p.Tyr2226Phe) c.6230A>T (p.Tyr2077Phe) c.5567A>T (p.Tyr1856Phe) c.10082A>T (p.Tyr3361Phe) | |
| 5 | g.13735908T>C | CA359225167 | DNAH5 | c.11480A>G (p.Tyr3827Cys) c.11435A>G (p.Tyr3812Cys) c.11588A>G (p.Tyr3863Cys) c.10493A>G (p.Tyr3498Cys) c.11344A>G (p.Thr3782Ala) c.6677A>G (p.Tyr2226Cys) c.6230A>G (p.Tyr2077Cys) c.5567A>G (p.Tyr1856Cys) c.10082A>G (p.Tyr3361Cys) | |
| 5 | g.13735908T>G | CA359225171 | DNAH5 | c.11480A>C (p.Tyr3827Ser) c.11435A>C (p.Tyr3812Ser) c.11588A>C (p.Tyr3863Ser) c.10493A>C (p.Tyr3498Ser) c.11344A>C (p.Thr3782Pro) c.6677A>C (p.Tyr2226Ser) c.6230A>C (p.Tyr2077Ser) c.5567A>C (p.Tyr1856Ser) c.10082A>C (p.Tyr3361Ser) | |
| 5 | g.13735909A>C | CA359225172 | DNAH5 | c.11479T>G (p.Tyr3827Asp) c.11434T>G (p.Tyr3812Asp) c.11587T>G (p.Tyr3863Asp) c.10492T>G (p.Tyr3498Asp) c.11343T>G (p.Ser3781=) c.6676T>G (p.Tyr2226Asp) c.6229T>G (p.Tyr2077Asp) c.5566T>G (p.Tyr1856Asp) c.10081T>G (p.Tyr3361Asp) | |
| 5 | g.13735909A>G | CA359225173 | DNAH5 | c.11479T>C (p.Tyr3827His) c.11434T>C (p.Tyr3812His) c.11587T>C (p.Tyr3863His) c.10492T>C (p.Tyr3498His) c.11343T>C (p.Ser3781=) c.6676T>C (p.Tyr2226His) c.6229T>C (p.Tyr2077His) c.5566T>C (p.Tyr1856His) c.10081T>C (p.Tyr3361His) | |
| 5 | g.13735909A>T | CA359225174 | DNAH5 | c.11479T>A (p.Tyr3827Asn) c.11434T>A (p.Tyr3812Asn) c.11587T>A (p.Tyr3863Asn) c.10492T>A (p.Tyr3498Asn) c.11343T>A (p.Ser3781=) c.6676T>A (p.Tyr2226Asn) c.6229T>A (p.Tyr2077Asn) c.5566T>A (p.Tyr1856Asn) c.10081T>A (p.Tyr3361Asn) | |
| 5 | g.13735910G>A | CA3201942 | DNAH5 | c.11478C>T (p.Leu3826=) c.11433C>T (p.Leu3811=) c.11586C>T (p.Leu3862=) c.10491C>T (p.Leu3497=) c.11342C>T (p.Ser3781Phe) c.6675C>T (p.Leu2225=) c.6228C>T (p.Leu2076=) c.5565C>T (p.Leu1855=) c.10080C>T (p.Leu3360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735910G>C | CA443260350 | DNAH5 | c.11478C>G (p.Leu3826=) c.11433C>G (p.Leu3811=) c.11586C>G (p.Leu3862=) c.10491C>G (p.Leu3497=) c.11342C>G (p.Ser3781Cys) c.6675C>G (p.Leu2225=) c.6228C>G (p.Leu2076=) c.5565C>G (p.Leu1855=) c.10080C>G (p.Leu3360=) | ClinVar |
| 5 | g.13735910G= | CA1528415131 | DNAH5 | c.11478C= (p.Leu3826=) c.11433C= (p.Leu3811=) c.11586C= (p.Leu3862=) c.10491C= (p.Leu3497=) c.11342C= (p.Ser3781=) c.6675C= (p.Leu2225=) c.6228C= (p.Leu2076=) c.5565C= (p.Leu1855=) c.10080C= (p.Leu3360=) | |
| 5 | g.13735910G>T | CA443260352 | DNAH5 | c.11478C>A (p.Leu3826=) c.11433C>A (p.Leu3811=) c.11586C>A (p.Leu3862=) c.10491C>A (p.Leu3497=) c.11342C>A (p.Ser3781Tyr) c.6675C>A (p.Leu2225=) c.6228C>A (p.Leu2076=) c.5565C>A (p.Leu1855=) c.10080C>A (p.Leu3360=) | |
| 5 | g.13735911A>C | CA359225184 | DNAH5 | c.11477T>G (p.Leu3826Arg) c.11432T>G (p.Leu3811Arg) c.11585T>G (p.Leu3862Arg) c.10490T>G (p.Leu3497Arg) c.11341T>G (p.Ser3781Ala) c.6674T>G (p.Leu2225Arg) c.6227T>G (p.Leu2076Arg) c.5564T>G (p.Leu1855Arg) c.10079T>G (p.Leu3360Arg) | |
| 5 | g.13735911A>G | CA359225186 | DNAH5 | c.11477T>C (p.Leu3826Pro) c.11432T>C (p.Leu3811Pro) c.11585T>C (p.Leu3862Pro) c.10490T>C (p.Leu3497Pro) c.11341T>C (p.Ser3781Pro) c.6674T>C (p.Leu2225Pro) c.6227T>C (p.Leu2076Pro) c.5564T>C (p.Leu1855Pro) c.10079T>C (p.Leu3360Pro) | |
| 5 | g.13735911A>T | CA359225189 | DNAH5 | c.11477T>A (p.Leu3826His) c.11432T>A (p.Leu3811His) c.11585T>A (p.Leu3862His) c.10490T>A (p.Leu3497His) c.11341T>A (p.Ser3781Thr) c.6674T>A (p.Leu2225His) c.6227T>A (p.Leu2076His) c.5564T>A (p.Leu1855His) c.10079T>A (p.Leu3360His) | |
| 5 | g.13735912G>A | CA3201943 | DNAH5 | c.11476C>T (p.Leu3826Phe) c.11431C>T (p.Leu3811Phe) c.11584C>T (p.Leu3862Phe) c.10489C>T (p.Leu3497Phe) c.11340C>T (p.Ser3780=) c.6673C>T (p.Leu2225Phe) c.6226C>T (p.Leu2076Phe) c.5563C>T (p.Leu1855Phe) c.10078C>T (p.Leu3360Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735912G>C | CA359225197 | DNAH5 | c.11476C>G (p.Leu3826Val) c.11431C>G (p.Leu3811Val) c.11584C>G (p.Leu3862Val) c.10489C>G (p.Leu3497Val) c.11340C>G (p.Ser3780=) c.6673C>G (p.Leu2225Val) c.6226C>G (p.Leu2076Val) c.5563C>G (p.Leu1855Val) c.10078C>G (p.Leu3360Val) | |
| 5 | g.13735912G= | CA1528415132 | DNAH5 | c.11476C= (p.Leu3826=) c.11431C= (p.Leu3811=) c.11584C= (p.Leu3862=) c.10489C= (p.Leu3497=) c.11340C= (p.Ser3780=) c.6673C= (p.Leu2225=) c.6226C= (p.Leu2076=) c.5563C= (p.Leu1855=) c.10078C= (p.Leu3360=) | |
| 5 | g.13735912G>T | CA359225195 | DNAH5 | c.11476C>A (p.Leu3826Ile) c.11431C>A (p.Leu3811Ile) c.11584C>A (p.Leu3862Ile) c.10489C>A (p.Leu3497Ile) c.11340C>A (p.Ser3780=) c.6673C>A (p.Leu2225Ile) c.6226C>A (p.Leu2076Ile) c.5563C>A (p.Leu1855Ile) c.10078C>A (p.Leu3360Ile) | |
| 5 | g.13735913G>A | CA443260353 | DNAH5 | c.11475C>T (p.Ile3825=) c.11430C>T (p.Ile3810=) c.11583C>T (p.Ile3861=) c.10488C>T (p.Ile3496=) c.11339C>T (p.Ser3780Phe) c.6672C>T (p.Ile2224=) c.6225C>T (p.Ile2075=) c.5562C>T (p.Ile1854=) c.10077C>T (p.Ile3359=) | |
| 5 | g.13735913G>C | CA359225204 | DNAH5 | c.11475C>G (p.Ile3825Met) c.11430C>G (p.Ile3810Met) c.11583C>G (p.Ile3861Met) c.10488C>G (p.Ile3496Met) c.11339C>G (p.Ser3780Cys) c.6672C>G (p.Ile2224Met) c.6225C>G (p.Ile2075Met) c.5562C>G (p.Ile1854Met) c.10077C>G (p.Ile3359Met) | |
| 5 | g.13735913G>T | CA443260354 | DNAH5 | c.11475C>A (p.Ile3825=) c.11430C>A (p.Ile3810=) c.11583C>A (p.Ile3861=) c.10488C>A (p.Ile3496=) c.11339C>A (p.Ser3780Tyr) c.6672C>A (p.Ile2224=) c.6225C>A (p.Ile2075=) c.5562C>A (p.Ile1854=) c.10077C>A (p.Ile3359=) | |
| 5 | g.13735914A>C | CA359225209 | DNAH5 | c.11474T>G (p.Ile3825Ser) c.11429T>G (p.Ile3810Ser) c.11582T>G (p.Ile3861Ser) c.10487T>G (p.Ile3496Ser) c.11338T>G (p.Ser3780Ala) c.6671T>G (p.Ile2224Ser) c.6224T>G (p.Ile2075Ser) c.5561T>G (p.Ile1854Ser) c.10076T>G (p.Ile3359Ser) | |
| 5 | g.13735914A>G | CA359225211 | DNAH5 | c.11474T>C (p.Ile3825Thr) c.11429T>C (p.Ile3810Thr) c.11582T>C (p.Ile3861Thr) c.10487T>C (p.Ile3496Thr) c.11338T>C (p.Ser3780Pro) c.6671T>C (p.Ile2224Thr) c.6224T>C (p.Ile2075Thr) c.5561T>C (p.Ile1854Thr) c.10076T>C (p.Ile3359Thr) | |
| 5 | g.13735914A>T | CA359225215 | DNAH5 | c.11474T>A (p.Ile3825Asn) c.11429T>A (p.Ile3810Asn) c.11582T>A (p.Ile3861Asn) c.10487T>A (p.Ile3496Asn) c.11338T>A (p.Ser3780Thr) c.6671T>A (p.Ile2224Asn) c.6224T>A (p.Ile2075Asn) c.5561T>A (p.Ile1854Asn) c.10076T>A (p.Ile3359Asn) | |
| 5 | g.13735915T>A | CA359225219 | DNAH5 | c.11473A>T (p.Ile3825Phe) c.11428A>T (p.Ile3810Phe) c.11581A>T (p.Ile3861Phe) c.10486A>T (p.Ile3496Phe) c.11337A>T (p.Ala3779=) c.6670A>T (p.Ile2224Phe) c.6223A>T (p.Ile2075Phe) c.5560A>T (p.Ile1854Phe) c.10075A>T (p.Ile3359Phe) | |
| 5 | g.13735915T>C | CA359225222 | DNAH5 | c.11473A>G (p.Ile3825Val) c.11428A>G (p.Ile3810Val) c.11581A>G (p.Ile3861Val) c.10486A>G (p.Ile3496Val) c.11337A>G (p.Ala3779=) c.6670A>G (p.Ile2224Val) c.6223A>G (p.Ile2075Val) c.5560A>G (p.Ile1854Val) c.10075A>G (p.Ile3359Val) | |
| 5 | g.13735915T>G | CA359225225 | DNAH5 | c.11473A>C (p.Ile3825Leu) c.11428A>C (p.Ile3810Leu) c.11581A>C (p.Ile3861Leu) c.10486A>C (p.Ile3496Leu) c.11337A>C (p.Ala3779=) c.6670A>C (p.Ile2224Leu) c.6223A>C (p.Ile2075Leu) c.5560A>C (p.Ile1854Leu) c.10075A>C (p.Ile3359Leu) | |
| 5 | g.13735916G>A | CA443260356 | DNAH5 | c.11472C>T (p.Ser3824=) c.11427C>T (p.Ser3809=) c.11580C>T (p.Ser3860=) c.10485C>T (p.Ser3495=) c.11336C>T (p.Ala3779Val) c.6669C>T (p.Ser2223=) c.6222C>T (p.Ser2074=) c.5559C>T (p.Ser1853=) c.10074C>T (p.Ser3358=) | |
| 5 | g.13735916G>C | CA359225226 | DNAH5 | c.11472C>G (p.Ser3824Arg) c.11427C>G (p.Ser3809Arg) c.11580C>G (p.Ser3860Arg) c.10485C>G (p.Ser3495Arg) c.11336C>G (p.Ala3779Gly) c.6669C>G (p.Ser2223Arg) c.6222C>G (p.Ser2074Arg) c.5559C>G (p.Ser1853Arg) c.10074C>G (p.Ser3358Arg) | |
| 5 | g.13735916G>T | CA359225234 | DNAH5 | c.11472C>A (p.Ser3824Arg) c.11427C>A (p.Ser3809Arg) c.11580C>A (p.Ser3860Arg) c.10485C>A (p.Ser3495Arg) c.11336C>A (p.Ala3779Glu) c.6669C>A (p.Ser2223Arg) c.6222C>A (p.Ser2074Arg) c.5559C>A (p.Ser1853Arg) c.10074C>A (p.Ser3358Arg) | gnomAD v4 |
| 5 | g.13735917C>A | CA359225238 | DNAH5 | c.11471G>T (p.Ser3824Ile) c.11426G>T (p.Ser3809Ile) c.11579G>T (p.Ser3860Ile) c.10484G>T (p.Ser3495Ile) c.11335G>T (p.Ala3779Ser) c.6668G>T (p.Ser2223Ile) c.6221G>T (p.Ser2074Ile) c.5558G>T (p.Ser1853Ile) c.10073G>T (p.Ser3358Ile) | |
| 5 | g.13735917C>G | CA359225241 | DNAH5 | c.11471G>C (p.Ser3824Thr) c.11426G>C (p.Ser3809Thr) c.11579G>C (p.Ser3860Thr) c.10484G>C (p.Ser3495Thr) c.11335G>C (p.Ala3779Pro) c.6668G>C (p.Ser2223Thr) c.6221G>C (p.Ser2074Thr) c.5558G>C (p.Ser1853Thr) c.10073G>C (p.Ser3358Thr) | |
| 5 | g.13735917C>T | CA359225251 | DNAH5 | c.11471G>A (p.Ser3824Asn) c.11426G>A (p.Ser3809Asn) c.11579G>A (p.Ser3860Asn) c.10484G>A (p.Ser3495Asn) c.11335G>A (p.Ala3779Thr) c.6668G>A (p.Ser2223Asn) c.6221G>A (p.Ser2074Asn) c.5558G>A (p.Ser1853Asn) c.10073G>A (p.Ser3358Asn) | COSMIC |
| 5 | g.13735918T>A | CA359225261 | DNAH5 | c.11470A>T (p.Ser3824Cys) c.11425A>T (p.Ser3809Cys) c.11578A>T (p.Ser3860Cys) c.10483A>T (p.Ser3495Cys) c.11334A>T (p.Ala3778=) c.6667A>T (p.Ser2223Cys) c.6220A>T (p.Ser2074Cys) c.5557A>T (p.Ser1853Cys) c.10072A>T (p.Ser3358Cys) | |
| 5 | g.13735918T>C | CA3201944 | DNAH5 | c.11470A>G (p.Ser3824Gly) c.11425A>G (p.Ser3809Gly) c.11578A>G (p.Ser3860Gly) c.10483A>G (p.Ser3495Gly) c.11334A>G (p.Ala3778=) c.6667A>G (p.Ser2223Gly) c.6220A>G (p.Ser2074Gly) c.5557A>G (p.Ser1853Gly) c.10072A>G (p.Ser3358Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735918T>G | CA359225259 | DNAH5 | c.11470A>C (p.Ser3824Arg) c.11425A>C (p.Ser3809Arg) c.11578A>C (p.Ser3860Arg) c.10483A>C (p.Ser3495Arg) c.11334A>C (p.Ala3778=) c.6667A>C (p.Ser2223Arg) c.6220A>C (p.Ser2074Arg) c.5557A>C (p.Ser1853Arg) c.10072A>C (p.Ser3358Arg) | |
| 5 | g.13735918T= | CA1528415133 | DNAH5 | c.11470A= (p.Ser3824=) c.11425A= (p.Ser3809=) c.11578A= (p.Ser3860=) c.10483A= (p.Ser3495=) c.11334A= (p.Ala3778=) c.6667A= (p.Ser2223=) c.6220A= (p.Ser2074=) c.5557A= (p.Ser1853=) c.10072A= (p.Ser3358=) | |
| 5 | g.13735919del | CA2580071996 | DNAH5 | c.11469del (p.Ser3824AlafsTer?) c.11424del (p.Ser3809AlafsTer?) c.11577del (p.Ser3860AlafsTer?) c.10482del (p.Ser3495AlafsTer?) c.11333del (p.Ala3778GlufsTer9) c.6666del (p.Ser2223AlafsTer?) c.6219del (p.Ser2074AlafsTer?) c.5556del (p.Ser1853AlafsTer?) c.10071del (p.Ser3358AlafsTer?) | ClinVar |
| 5 | g.13735919G>A | CA443260358 | DNAH5 | c.11469C>T (p.Gly3823=) c.11424C>T (p.Gly3808=) c.11577C>T (p.Gly3859=) c.10482C>T (p.Gly3494=) c.11333C>T (p.Ala3778Val) c.6666C>T (p.Gly2222=) c.6219C>T (p.Gly2073=) c.5556C>T (p.Gly1852=) c.10071C>T (p.Gly3357=) | dbSNP |
| 5 | g.13735919G>C | CA443260359 | DNAH5 | c.11469C>G (p.Gly3823=) c.11424C>G (p.Gly3808=) c.11577C>G (p.Gly3859=) c.10482C>G (p.Gly3494=) c.11333C>G (p.Ala3778Gly) c.6666C>G (p.Gly2222=) c.6219C>G (p.Gly2073=) c.5556C>G (p.Gly1852=) c.10071C>G (p.Gly3357=) | dbSNP |
| 5 | g.13735919G= | CA1528415134 | DNAH5 | c.11469C= (p.Gly3823=) c.11424C= (p.Gly3808=) c.11577C= (p.Gly3859=) c.10482C= (p.Gly3494=) c.11333C= (p.Ala3778=) c.6666C= (p.Gly2222=) c.6219C= (p.Gly2073=) c.5556C= (p.Gly1852=) c.10071C= (p.Gly3357=) | |
| 5 | g.13735919G>T | CA443260360 | DNAH5 | c.11469C>A (p.Gly3823=) c.11424C>A (p.Gly3808=) c.11577C>A (p.Gly3859=) c.10482C>A (p.Gly3494=) c.11333C>A (p.Ala3778Glu) c.6666C>A (p.Gly2222=) c.6219C>A (p.Gly2073=) c.5556C>A (p.Gly1852=) c.10071C>A (p.Gly3357=) | gnomAD v4 |
| 5 | g.13735920C>A | CA359225264 | DNAH5 | c.11468G>T (p.Gly3823Val) c.11423G>T (p.Gly3808Val) c.11576G>T (p.Gly3859Val) c.10481G>T (p.Gly3494Val) c.11332G>T (p.Ala3778Ser) c.6665G>T (p.Gly2222Val) c.6218G>T (p.Gly2073Val) c.5555G>T (p.Gly1852Val) c.10070G>T (p.Gly3357Val) | |
| 5 | g.13735920C>G | CA359225267 | DNAH5 | c.11468G>C (p.Gly3823Ala) c.11423G>C (p.Gly3808Ala) c.11576G>C (p.Gly3859Ala) c.10481G>C (p.Gly3494Ala) c.11332G>C (p.Ala3778Pro) c.6665G>C (p.Gly2222Ala) c.6218G>C (p.Gly2073Ala) c.5555G>C (p.Gly1852Ala) c.10070G>C (p.Gly3357Ala) | |
| 5 | g.13735920C>T | CA359225271 | DNAH5 | c.11468G>A (p.Gly3823Asp) c.11423G>A (p.Gly3808Asp) c.11576G>A (p.Gly3859Asp) c.10481G>A (p.Gly3494Asp) c.11332G>A (p.Ala3778Thr) c.6665G>A (p.Gly2222Asp) c.6218G>A (p.Gly2073Asp) c.5555G>A (p.Gly1852Asp) c.10070G>A (p.Gly3357Asp) | |
| 5 | g.13735921C>A | CA359225278 | DNAH5 | c.11467G>T (p.Gly3823Cys) c.11422G>T (p.Gly3808Cys) c.11575G>T (p.Gly3859Cys) c.10480G>T (p.Gly3494Cys) c.11331G>T (p.Gly3777=) c.6664G>T (p.Gly2222Cys) c.6217G>T (p.Gly2073Cys) c.5554G>T (p.Gly1852Cys) c.10069G>T (p.Gly3357Cys) | |
| 5 | g.13735921C>G | CA359225280 | DNAH5 | c.11467G>C (p.Gly3823Arg) c.11422G>C (p.Gly3808Arg) c.11575G>C (p.Gly3859Arg) c.10480G>C (p.Gly3494Arg) c.11331G>C (p.Gly3777=) c.6664G>C (p.Gly2222Arg) c.6217G>C (p.Gly2073Arg) c.5554G>C (p.Gly1852Arg) c.10069G>C (p.Gly3357Arg) | |
| 5 | g.13735921C>T | CA359225283 | DNAH5 | c.11467G>A (p.Gly3823Ser) c.11422G>A (p.Gly3808Ser) c.11575G>A (p.Gly3859Ser) c.10480G>A (p.Gly3494Ser) c.11331G>A (p.Gly3777=) c.6664G>A (p.Gly2222Ser) c.6217G>A (p.Gly2073Ser) c.5554G>A (p.Gly1852Ser) c.10069G>A (p.Gly3357Ser) | |
| 5 | g.13735922C>A | CA443260366 | DNAH5 | c.11466G>T (p.Arg3822=) c.11421G>T (p.Arg3807=) c.11574G>T (p.Arg3858=) c.10479G>T (p.Arg3493=) c.11330G>T (p.Gly3777Val) c.6663G>T (p.Arg2221=) c.6216G>T (p.Arg2072=) c.5553G>T (p.Arg1851=) c.10068G>T (p.Arg3356=) | gnomAD v4 |
| 5 | g.13735922C>G | CA443260370 | DNAH5 | c.11466G>C (p.Arg3822=) c.11421G>C (p.Arg3807=) c.11574G>C (p.Arg3858=) c.10479G>C (p.Arg3493=) c.11330G>C (p.Gly3777Ala) c.6663G>C (p.Arg2221=) c.6216G>C (p.Arg2072=) c.5553G>C (p.Arg1851=) c.10068G>C (p.Arg3356=) | |
| 5 | g.13735922C>T | CA443260371 | DNAH5 | c.11466G>A (p.Arg3822=) c.11421G>A (p.Arg3807=) c.11574G>A (p.Arg3858=) c.10479G>A (p.Arg3493=) c.11330G>A (p.Gly3777Glu) c.6663G>A (p.Arg2221=) c.6216G>A (p.Arg2072=) c.5553G>A (p.Arg1851=) c.10068G>A (p.Arg3356=) | |
| 5 | g.13735923C>A | CA359225289 | DNAH5 | c.11465G>T (p.Arg3822Leu) c.11420G>T (p.Arg3807Leu) c.11573G>T (p.Arg3858Leu) c.10478G>T (p.Arg3493Leu) c.11329G>T (p.Gly3777Trp) c.6662G>T (p.Arg2221Leu) c.6215G>T (p.Arg2072Leu) c.5552G>T (p.Arg1851Leu) c.10067G>T (p.Arg3356Leu) | |
| 5 | g.13735923C= | CA1528415135 | DNAH5 | c.11465G= (p.Arg3822=) c.11420G= (p.Arg3807=) c.11573G= (p.Arg3858=) c.10478G= (p.Arg3493=) c.11329G= (p.Gly3777=) c.6662G= (p.Arg2221=) c.6215G= (p.Arg2072=) c.5552G= (p.Arg1851=) c.10067G= (p.Arg3356=) | |
| 5 | g.13735923C>G | CA359225293 | DNAH5 | c.11465G>C (p.Arg3822Pro) c.11420G>C (p.Arg3807Pro) c.11573G>C (p.Arg3858Pro) c.10478G>C (p.Arg3493Pro) c.11329G>C (p.Gly3777Arg) c.6662G>C (p.Arg2221Pro) c.6215G>C (p.Arg2072Pro) c.5552G>C (p.Arg1851Pro) c.10067G>C (p.Arg3356Pro) | |
| 5 | g.13735923C>T | CA3201945 | DNAH5 | c.11465G>A (p.Arg3822Gln) c.11420G>A (p.Arg3807Gln) c.11573G>A (p.Arg3858Gln) c.10478G>A (p.Arg3493Gln) c.11329G>A (p.Gly3777Arg) c.6662G>A (p.Arg2221Gln) c.6215G>A (p.Arg2072Gln) c.5552G>A (p.Arg1851Gln) c.10067G>A (p.Arg3356Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735924G>A | CA3201946 | DNAH5 | c.11464C>T (p.Arg3822Trp) c.11419C>T (p.Arg3807Trp) c.11572C>T (p.Arg3858Trp) c.10477C>T (p.Arg3493Trp) c.11328C>T (p.Arg3776=) c.6661C>T (p.Arg2221Trp) c.6214C>T (p.Arg2072Trp) c.5551C>T (p.Arg1851Trp) c.10066C>T (p.Arg3356Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13735924G>C | CA359225302 | DNAH5 | c.11464C>G (p.Arg3822Gly) c.11419C>G (p.Arg3807Gly) c.11572C>G (p.Arg3858Gly) c.10477C>G (p.Arg3493Gly) c.11328C>G (p.Arg3776=) c.6661C>G (p.Arg2221Gly) c.6214C>G (p.Arg2072Gly) c.5551C>G (p.Arg1851Gly) c.10066C>G (p.Arg3356Gly) | |
| 5 | g.13735924G= | CA1528415136 | DNAH5 | c.11464C= (p.Arg3822=) c.11419C= (p.Arg3807=) c.11572C= (p.Arg3858=) c.10477C= (p.Arg3493=) c.11328C= (p.Arg3776=) c.6661C= (p.Arg2221=) c.6214C= (p.Arg2072=) c.5551C= (p.Arg1851=) c.10066C= (p.Arg3356=) | |
| 5 | g.13735924G>T | CA443260373 | DNAH5 | c.11464C>A (p.Arg3822=) c.11419C>A (p.Arg3807=) c.11572C>A (p.Arg3858=) c.10477C>A (p.Arg3493=) c.11328C>A (p.Arg3776=) c.6661C>A (p.Arg2221=) c.6214C>A (p.Arg2072=) c.5551C>A (p.Arg1851=) c.10066C>A (p.Arg3356=) | COSMIC |
| 5 | g.13735925C>A | CA443260375 | DNAH5 | c.11463G>T (p.Thr3821=) c.11418G>T (p.Thr3806=) c.11571G>T (p.Thr3857=) c.10476G>T (p.Thr3492=) c.11327G>T (p.Arg3776Leu) c.6660G>T (p.Thr2220=) c.6213G>T (p.Thr2071=) c.5550G>T (p.Thr1850=) c.10065G>T (p.Thr3355=) | |
| 5 | g.13735925C= | CA1528415137 | DNAH5 | c.11463G= (p.Thr3821=) c.11418G= (p.Thr3806=) c.11571G= (p.Thr3857=) c.10476G= (p.Thr3492=) c.11327G= (p.Arg3776=) c.6660G= (p.Thr2220=) c.6213G= (p.Thr2071=) c.5550G= (p.Thr1850=) c.10065G= (p.Thr3355=) | |
| 5 | g.13735925C>G | CA443260376 | DNAH5 | c.11463G>C (p.Thr3821=) c.11418G>C (p.Thr3806=) c.11571G>C (p.Thr3857=) c.10476G>C (p.Thr3492=) c.11327G>C (p.Arg3776Pro) c.6660G>C (p.Thr2220=) c.6213G>C (p.Thr2071=) c.5550G>C (p.Thr1850=) c.10065G>C (p.Thr3355=) | |
| 5 | g.13735925C>T | CA3201947 | DNAH5 | c.11463G>A (p.Thr3821=) c.11418G>A (p.Thr3806=) c.11571G>A (p.Thr3857=) c.10476G>A (p.Thr3492=) c.11327G>A (p.Arg3776His) c.6660G>A (p.Thr2220=) c.6213G>A (p.Thr2071=) c.5550G>A (p.Thr1850=) c.10065G>A (p.Thr3355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13735926G>A | CA3201949 | DNAH5 | c.11462C>T (p.Thr3821Met) c.11417C>T (p.Thr3806Met) c.11570C>T (p.Thr3857Met) c.10475C>T (p.Thr3492Met) c.11326C>T (p.Arg3776Cys) c.6659C>T (p.Thr2220Met) c.6212C>T (p.Thr2071Met) c.5549C>T (p.Thr1850Met) c.10064C>T (p.Thr3355Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735926G>C | CA359225309 | DNAH5 | c.11462C>G (p.Thr3821Arg) c.11417C>G (p.Thr3806Arg) c.11570C>G (p.Thr3857Arg) c.10475C>G (p.Thr3492Arg) c.11326C>G (p.Arg3776Gly) c.6659C>G (p.Thr2220Arg) c.6212C>G (p.Thr2071Arg) c.5549C>G (p.Thr1850Arg) c.10064C>G (p.Thr3355Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13735926G= | CA1528415138 | DNAH5 | c.11462C= (p.Thr3821=) c.11417C= (p.Thr3806=) c.11570C= (p.Thr3857=) c.10475C= (p.Thr3492=) c.11326C= (p.Arg3776=) c.6659C= (p.Thr2220=) c.6212C= (p.Thr2071=) c.5549C= (p.Thr1850=) c.10064C= (p.Thr3355=) | |
| 5 | g.13735926G>T | CA3201948 | DNAH5 | c.11462C>A (p.Thr3821Lys) c.11417C>A (p.Thr3806Lys) c.11570C>A (p.Thr3857Lys) c.10475C>A (p.Thr3492Lys) c.11326C>A (p.Arg3776Ser) c.6659C>A (p.Thr2220Lys) c.6212C>A (p.Thr2071Lys) c.5549C>A (p.Thr1850Lys) c.10064C>A (p.Thr3355Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735927T>A | CA359225319 | DNAH5 | c.11461A>T (p.Thr3821Ser) c.11416A>T (p.Thr3806Ser) c.11569A>T (p.Thr3857Ser) c.10474A>T (p.Thr3492Ser) c.11325A>T (p.Leu3775=) c.6658A>T (p.Thr2220Ser) c.6211A>T (p.Thr2071Ser) c.5548A>T (p.Thr1850Ser) c.10063A>T (p.Thr3355Ser) | |
| 5 | g.13735927T>C | CA359225313 | DNAH5 | c.11461A>G (p.Thr3821Ala) c.11416A>G (p.Thr3806Ala) c.11569A>G (p.Thr3857Ala) c.10474A>G (p.Thr3492Ala) c.11325A>G (p.Leu3775=) c.6658A>G (p.Thr2220Ala) c.6211A>G (p.Thr2071Ala) c.5548A>G (p.Thr1850Ala) c.10063A>G (p.Thr3355Ala) | |
| 5 | g.13735927T>G | CA359225322 | DNAH5 | c.11461A>C (p.Thr3821Pro) c.11416A>C (p.Thr3806Pro) c.11569A>C (p.Thr3857Pro) c.10474A>C (p.Thr3492Pro) c.11325A>C (p.Leu3775=) c.6658A>C (p.Thr2220Pro) c.6211A>C (p.Thr2071Pro) c.5548A>C (p.Thr1850Pro) c.10063A>C (p.Thr3355Pro) | |
| 5 | g.13735928A>C | CA443260377 | DNAH5 | c.11460T>G (p.Ala3820=) c.11415T>G (p.Ala3805=) c.11568T>G (p.Ala3856=) c.10473T>G (p.Ala3491=) c.11324T>G (p.Leu3775Arg) c.6657T>G (p.Ala2219=) c.6210T>G (p.Ala2070=) c.5547T>G (p.Ala1849=) c.10062T>G (p.Ala3354=) | |
| 5 | g.13735928A>G | CA443260378 | DNAH5 | c.11460T>C (p.Ala3820=) c.11415T>C (p.Ala3805=) c.11568T>C (p.Ala3856=) c.10473T>C (p.Ala3491=) c.11324T>C (p.Leu3775Pro) c.6657T>C (p.Ala2219=) c.6210T>C (p.Ala2070=) c.5547T>C (p.Ala1849=) c.10062T>C (p.Ala3354=) | |
| 5 | g.13735928A>T | CA443260379 | DNAH5 | c.11460T>A (p.Ala3820=) c.11415T>A (p.Ala3805=) c.11568T>A (p.Ala3856=) c.10473T>A (p.Ala3491=) c.11324T>A (p.Leu3775Gln) c.6657T>A (p.Ala2219=) c.6210T>A (p.Ala2070=) c.5547T>A (p.Ala1849=) c.10062T>A (p.Ala3354=) | |
| 5 | g.13735929del | CA2739274622 | DNAH5 | c.11459del (p.Ala3820ValfsTer?) c.11414del (p.Ala3805ValfsTer?) c.11567del (p.Ala3856ValfsTer?) c.10472del (p.Ala3491ValfsTer?) c.11323del (p.Leu3775TyrfsTer12) c.6656del (p.Ala2219ValfsTer?) c.6209del (p.Ala2070ValfsTer?) c.5546del (p.Ala1849ValfsTer?) c.10061del (p.Ala3354ValfsTer?) | ClinVar |
| 5 | g.13735929G>A | CA359225335 | DNAH5 | c.11459C>T (p.Ala3820Val) c.11414C>T (p.Ala3805Val) c.11567C>T (p.Ala3856Val) c.10472C>T (p.Ala3491Val) c.11323C>T (p.Leu3775=) c.6656C>T (p.Ala2219Val) c.6209C>T (p.Ala2070Val) c.5546C>T (p.Ala1849Val) c.10061C>T (p.Ala3354Val) | |
| 5 | g.13735929G>C | CA359225340 | DNAH5 | c.11459C>G (p.Ala3820Gly) c.11414C>G (p.Ala3805Gly) c.11567C>G (p.Ala3856Gly) c.10472C>G (p.Ala3491Gly) c.11323C>G (p.Leu3775Val) c.6656C>G (p.Ala2219Gly) c.6209C>G (p.Ala2070Gly) c.5546C>G (p.Ala1849Gly) c.10061C>G (p.Ala3354Gly) | |
| 5 | g.13735929G>T | CA359225343 | DNAH5 | c.11459C>A (p.Ala3820Asp) c.11414C>A (p.Ala3805Asp) c.11567C>A (p.Ala3856Asp) c.10472C>A (p.Ala3491Asp) c.11323C>A (p.Leu3775Ile) c.6656C>A (p.Ala2219Asp) c.6209C>A (p.Ala2070Asp) c.5546C>A (p.Ala1849Asp) c.10061C>A (p.Ala3354Asp) | |
| 5 | g.13735930C>A | CA359225348 | DNAH5 | c.11458G>T (p.Ala3820Ser) c.11413G>T (p.Ala3805Ser) c.11566G>T (p.Ala3856Ser) c.10471G>T (p.Ala3491Ser) c.11322G>T (p.Trp3774Cys) c.6655G>T (p.Ala2219Ser) c.6208G>T (p.Ala2070Ser) c.5545G>T (p.Ala1849Ser) c.10060G>T (p.Ala3354Ser) | |
| 5 | g.13735930C>G | CA359225351 | DNAH5 | c.11458G>C (p.Ala3820Pro) c.11413G>C (p.Ala3805Pro) c.11566G>C (p.Ala3856Pro) c.10471G>C (p.Ala3491Pro) c.11322G>C (p.Trp3774Cys) c.6655G>C (p.Ala2219Pro) c.6208G>C (p.Ala2070Pro) c.5545G>C (p.Ala1849Pro) c.10060G>C (p.Ala3354Pro) | |
| 5 | g.13735930C>T | CA359225355 | DNAH5 | c.11458G>A (p.Ala3820Thr) c.11413G>A (p.Ala3805Thr) c.11566G>A (p.Ala3856Thr) c.10471G>A (p.Ala3491Thr) c.11322G>A (p.Trp3774Ter) c.6655G>A (p.Ala2219Thr) c.6208G>A (p.Ala2070Thr) c.5545G>A (p.Ala1849Thr) c.10060G>A (p.Ala3354Thr) | |
| 5 | g.13735931C>A | CA443260384 | DNAH5 | c.11457G>T (p.Val3819=) c.11412G>T (p.Val3804=) c.11565G>T (p.Val3855=) c.10470G>T (p.Val3490=) c.11321G>T (p.Trp3774Leu) c.6654G>T (p.Val2218=) c.6207G>T (p.Val2069=) c.5544G>T (p.Val1848=) c.10059G>T (p.Val3353=) | |
| 5 | g.13735931C= | CA1528415139 | DNAH5 | c.11457G= (p.Val3819=) c.11412G= (p.Val3804=) c.11565G= (p.Val3855=) c.10470G= (p.Val3490=) c.11321G= (p.Trp3774=) c.6654G= (p.Val2218=) c.6207G= (p.Val2069=) c.5544G= (p.Val1848=) c.10059G= (p.Val3353=) | |
| 5 | g.13735931C>G | CA443260386 | DNAH5 | c.11457G>C (p.Val3819=) c.11412G>C (p.Val3804=) c.11565G>C (p.Val3855=) c.10470G>C (p.Val3490=) c.11321G>C (p.Trp3774Ser) c.6654G>C (p.Val2218=) c.6207G>C (p.Val2069=) c.5544G>C (p.Val1848=) c.10059G>C (p.Val3353=) | COSMIC |
| 5 | g.13735931C>T | CA3201950 | DNAH5 | c.11457G>A (p.Val3819=) c.11412G>A (p.Val3804=) c.11565G>A (p.Val3855=) c.10470G>A (p.Val3490=) c.11321G>A (p.Trp3774Ter) c.6654G>A (p.Val2218=) c.6207G>A (p.Val2069=) c.5544G>A (p.Val1848=) c.10059G>A (p.Val3353=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735932A= | CA1528415140 | DNAH5 | c.11456T= (p.Val3819=) c.11411T= (p.Val3804=) c.11564T= (p.Val3855=) c.10469T= (p.Val3490=) c.11320T= (p.Trp3774=) c.6653T= (p.Val2218=) c.6206T= (p.Val2069=) c.5543T= (p.Val1848=) c.10058T= (p.Val3353=) | |
| 5 | g.13735932A>C | CA359225364 | DNAH5 | c.11456T>G (p.Val3819Gly) c.11411T>G (p.Val3804Gly) c.11564T>G (p.Val3855Gly) c.10469T>G (p.Val3490Gly) c.11320T>G (p.Trp3774Gly) c.6653T>G (p.Val2218Gly) c.6206T>G (p.Val2069Gly) c.5543T>G (p.Val1848Gly) c.10058T>G (p.Val3353Gly) | |
| 5 | g.13735932A>G | CA3201951 | DNAH5 | c.11456T>C (p.Val3819Ala) c.11411T>C (p.Val3804Ala) c.11564T>C (p.Val3855Ala) c.10469T>C (p.Val3490Ala) c.11320T>C (p.Trp3774Arg) c.6653T>C (p.Val2218Ala) c.6206T>C (p.Val2069Ala) c.5543T>C (p.Val1848Ala) c.10058T>C (p.Val3353Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735932A>T | CA359225371 | DNAH5 | c.11456T>A (p.Val3819Glu) c.11411T>A (p.Val3804Glu) c.11564T>A (p.Val3855Glu) c.10469T>A (p.Val3490Glu) c.11320T>A (p.Trp3774Arg) c.6653T>A (p.Val2218Glu) c.6206T>A (p.Val2069Glu) c.5543T>A (p.Val1848Glu) c.10058T>A (p.Val3353Glu) | |
| 5 | g.13735933C>A | CA359225375 | DNAH5 | c.11456-1G>T (n.11456-1G>T) c.11411-1G>T (n.11411-1G>T) c.11564-1G>T (n.11564-1G>T) c.10469-1G>T (n.10469-1G>T) c.11320-1G>T (n.11320-1G>T) c.6653-1G>T (n.6653-1G>T) c.6206-1G>T (n.6206-1G>T) c.5543-1G>T (n.5543-1G>T) c.10058-1G>T (n.10058-1G>T) | |
| 5 | g.13735933C>G | CA359225378 | DNAH5 | c.11456-1G>C (n.11456-1G>C) c.11411-1G>C (n.11411-1G>C) c.11564-1G>C (n.11564-1G>C) c.10469-1G>C (n.10469-1G>C) c.11320-1G>C (n.11320-1G>C) c.6653-1G>C (n.6653-1G>C) c.6206-1G>C (n.6206-1G>C) c.5543-1G>C (n.5543-1G>C) c.10058-1G>C (n.10058-1G>C) | |
| 5 | g.13735933C>T | CA359225381 | DNAH5 | c.11456-1G>A (n.11456-1G>A) c.11411-1G>A (n.11411-1G>A) c.11564-1G>A (n.11564-1G>A) c.10469-1G>A (n.10469-1G>A) c.11320-1G>A (n.11320-1G>A) c.6653-1G>A (n.6653-1G>A) c.6206-1G>A (n.6206-1G>A) c.5543-1G>A (n.5543-1G>A) c.10058-1G>A (n.10058-1G>A) | |
| 5 | g.13735934T>A | CA359225388 | DNAH5 | c.11456-2A>T (n.11456-2A>T) c.11411-2A>T (n.11411-2A>T) c.11564-2A>T (n.11564-2A>T) c.10469-2A>T (n.10469-2A>T) c.11320-2A>T (n.11320-2A>T) c.6653-2A>T (n.6653-2A>T) c.6206-2A>T (n.6206-2A>T) c.5543-2A>T (n.5543-2A>T) c.10058-2A>T (n.10058-2A>T) | |
| 5 | g.13735934T>C | CA359225396 | DNAH5 | c.11456-2A>G (n.11456-2A>G) c.11411-2A>G (n.11411-2A>G) c.11564-2A>G (n.11564-2A>G) c.10469-2A>G (n.10469-2A>G) c.11320-2A>G (n.11320-2A>G) c.6653-2A>G (n.6653-2A>G) c.6206-2A>G (n.6206-2A>G) c.5543-2A>G (n.5543-2A>G) c.10058-2A>G (n.10058-2A>G) | |
| 5 | g.13735934T>G | CA359225392 | DNAH5 | c.11456-2A>C (n.11456-2A>C) c.11411-2A>C (n.11411-2A>C) c.11564-2A>C (n.11564-2A>C) c.10469-2A>C (n.10469-2A>C) c.11320-2A>C (n.11320-2A>C) c.6653-2A>C (n.6653-2A>C) c.6206-2A>C (n.6206-2A>C) c.5543-2A>C (n.5543-2A>C) c.10058-2A>C (n.10058-2A>C) | |
| 5 | g.13735935G>A | CA3201952 | DNAH5 | c.11456-3C>T (n.11456-3C>T) c.11411-3C>T (n.11411-3C>T) c.11564-3C>T (n.11564-3C>T) c.10469-3C>T (n.10469-3C>T) c.11320-3C>T (n.11320-3C>T) c.6653-3C>T (n.6653-3C>T) c.6206-3C>T (n.6206-3C>T) c.5543-3C>T (n.5543-3C>T) c.10058-3C>T (n.10058-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735935G= | CA1528415141 | DNAH5 | c.11456-3C= (n.11456-3C=) c.11411-3C= (n.11411-3C=) c.11564-3C= (n.11564-3C=) c.10469-3C= (n.10469-3C=) c.11320-3C= (n.11320-3C=) c.6653-3C= (n.6653-3C=) c.6206-3C= (n.6206-3C=) c.5543-3C= (n.5543-3C=) c.10058-3C= (n.10058-3C=) | |
| 5 | g.13735935G>T | CA2673268062 | DNAH5 | c.11456-3C>A (n.11456-3C>A) c.11411-3C>A (n.11411-3C>A) c.11564-3C>A (n.11564-3C>A) c.10469-3C>A (n.10469-3C>A) c.11320-3C>A (n.11320-3C>A) c.6653-3C>A (n.6653-3C>A) c.6206-3C>A (n.6206-3C>A) c.5543-3C>A (n.5543-3C>A) c.10058-3C>A (n.10058-3C>A) | gnomAD v4 |
| 5 | g.13735936G>A | CA557863818 | DNAH5 | c.11456-4C>T (n.11456-4C>T) c.11411-4C>T (n.11411-4C>T) c.11564-4C>T (n.11564-4C>T) c.10469-4C>T (n.10469-4C>T) c.11320-4C>T (n.11320-4C>T) c.6653-4C>T (n.6653-4C>T) c.6206-4C>T (n.6206-4C>T) c.5543-4C>T (n.5543-4C>T) c.10058-4C>T (n.10058-4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735936G= | CA1528415142 | DNAH5 | c.11456-4C= (n.11456-4C=) c.11411-4C= (n.11411-4C=) c.11564-4C= (n.11564-4C=) c.10469-4C= (n.10469-4C=) c.11320-4C= (n.11320-4C=) c.6653-4C= (n.6653-4C=) c.6206-4C= (n.6206-4C=) c.5543-4C= (n.5543-4C=) c.10058-4C= (n.10058-4C=) | |
| 5 | g.13735938A>C | CA2673268063 | DNAH5 | c.11456-6T>G (n.11456-6T>G) c.11411-6T>G (n.11411-6T>G) c.11564-6T>G (n.11564-6T>G) c.10469-6T>G (n.10469-6T>G) c.11320-6T>G (n.11320-6T>G) c.6653-6T>G (n.6653-6T>G) c.6206-6T>G (n.6206-6T>G) c.5543-6T>G (n.5543-6T>G) c.10058-6T>G (n.10058-6T>G) | gnomAD v4 |
| 5 | g.13735939G>A | CA915940842 | DNAH5 | c.11456-7C>T (n.11456-7C>T) c.11411-7C>T (n.11411-7C>T) c.11564-7C>T (n.11564-7C>T) c.10469-7C>T (n.10469-7C>T) c.11320-7C>T (n.11320-7C>T) c.6653-7C>T (n.6653-7C>T) c.6206-7C>T (n.6206-7C>T) c.5543-7C>T (n.5543-7C>T) c.10058-7C>T (n.10058-7C>T) | ClinVar gnomAD v4 |
| 5 | g.13735939dup | CA2673268064 | DNAH5 | c.11456-7dup (n.11456-7dup) c.11411-7dup (n.11411-7dup) c.11564-7dup (n.11564-7dup) c.10469-7dup (n.10469-7dup) c.11320-7dup (n.11320-7dup) c.6653-7dup (n.6653-7dup) c.6206-7dup (n.6206-7dup) c.5543-7dup (n.5543-7dup) c.10058-7dup (n.10058-7dup) | gnomAD v4 |
| 5 | g.13735941C>T | CA2573138438 | DNAH5 | c.11456-9G>A (n.11456-9G>A) c.11411-9G>A (n.11411-9G>A) c.11564-9G>A (n.11564-9G>A) c.10469-9G>A (n.10469-9G>A) c.11320-9G>A (n.11320-9G>A) c.6653-9G>A (n.6653-9G>A) c.6206-9G>A (n.6206-9G>A) c.5543-9G>A (n.5543-9G>A) c.10058-9G>A (n.10058-9G>A) | ClinVar dbSNP |
| 5 | g.13735942_13735945delinsAAAG | CA1528415143 | DNAH5 | c.11456-13_11456-10delinsCTTT (n.11456-13_11456-10delinsCTTT) c.11411-13_11411-10delinsCTTT (n.11411-13_11411-10delinsCTTT) c.11564-13_11564-10delinsCTTT (n.11564-13_11564-10delinsCTTT) c.10469-13_10469-10delinsCTTT (n.10469-13_10469-10delinsCTTT) c.11320-13_11320-10delinsCTTT (n.11320-13_11320-10delinsCTTT) c.6653-13_6653-10delinsCTTT (n.6653-13_6653-10delinsCTTT) c.6206-13_6206-10delinsCTTT (n.6206-13_6206-10delinsCTTT) c.5543-13_5543-10delinsCTTT (n.5543-13_5543-10delinsCTTT) c.10058-13_10058-10delinsCTTT (n.10058-13_10058-10delinsCTTT) | |
| 5 | g.13735943A= | CA1528415144 | DNAH5 | c.11456-11T= (n.11456-11T=) c.11411-11T= (n.11411-11T=) c.11564-11T= (n.11564-11T=) c.10469-11T= (n.10469-11T=) c.11320-11T= (n.11320-11T=) c.6653-11T= (n.6653-11T=) c.6206-11T= (n.6206-11T=) c.5543-11T= (n.5543-11T=) c.10058-11T= (n.10058-11T=) | |
| 5 | g.13735944_13735946del | CA3201953 | DNAH5 | c.11456-13_11456-11del (n.11456-13_11456-11del) c.11411-13_11411-11del (n.11411-13_11411-11del) c.11564-13_11564-11del (n.11564-13_11564-11del) c.10469-13_10469-11del (n.10469-13_10469-11del) c.11320-13_11320-11del (n.11320-13_11320-11del) c.6653-13_6653-11del (n.6653-13_6653-11del) c.6206-13_6206-11del (n.6206-13_6206-11del) c.5543-13_5543-11del (n.5543-13_5543-11del) c.10058-13_10058-11del (n.10058-13_10058-11del) | dbSNP ExAC |
| 5 | g.13735943_13735944insGCTGAATTCTGT | CA557863819 | DNAH5 | c.11456-12_11456-11insACAGAATTCAGC (n.11456-12_11456-11insACAGAATTCAGC) c.11411-12_11411-11insACAGAATTCAGC (n.11411-12_11411-11insACAGAATTCAGC) c.11564-12_11564-11insACAGAATTCAGC (n.11564-12_11564-11insACAGAATTCAGC) c.10469-12_10469-11insACAGAATTCAGC (n.10469-12_10469-11insACAGAATTCAGC) c.11320-12_11320-11insACAGAATTCAGC (n.11320-12_11320-11insACAGAATTCAGC) c.6653-12_6653-11insACAGAATTCAGC (n.6653-12_6653-11insACAGAATTCAGC) c.6206-12_6206-11insACAGAATTCAGC (n.6206-12_6206-11insACAGAATTCAGC) c.5543-12_5543-11insACAGAATTCAGC (n.5543-12_5543-11insACAGAATTCAGC) c.10058-12_10058-11insACAGAATTCAGC (n.10058-12_10058-11insACAGAATTCAGC) | dbSNP gnomAD v2 |
| 5 | g.13735945G>C | CA3201954 | DNAH5 | c.11456-13C>G (n.11456-13C>G) c.11411-13C>G (n.11411-13C>G) c.11564-13C>G (n.11564-13C>G) c.10469-13C>G (n.10469-13C>G) c.11320-13C>G (n.11320-13C>G) c.6653-13C>G (n.6653-13C>G) c.6206-13C>G (n.6206-13C>G) c.5543-13C>G (n.5543-13C>G) c.10058-13C>G (n.10058-13C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735945G= | CA1528415145 | DNAH5 | c.11456-13C= (n.11456-13C=) c.11411-13C= (n.11411-13C=) c.11564-13C= (n.11564-13C=) c.10469-13C= (n.10469-13C=) c.11320-13C= (n.11320-13C=) c.6653-13C= (n.6653-13C=) c.6206-13C= (n.6206-13C=) c.5543-13C= (n.5543-13C=) c.10058-13C= (n.10058-13C=) | |
| 5 | g.13735947G>A | CA2548016748 | DNAH5 | c.11456-15C>T (n.11456-15C>T) c.11411-15C>T (n.11411-15C>T) c.11564-15C>T (n.11564-15C>T) c.10469-15C>T (n.10469-15C>T) c.11320-15C>T (n.11320-15C>T) c.6653-15C>T (n.6653-15C>T) c.6206-15C>T (n.6206-15C>T) c.5543-15C>T (n.5543-15C>T) c.10058-15C>T (n.10058-15C>T) | |
| 5 | g.13735947G>T | CA2673268065 | DNAH5 | c.11456-15C>A (n.11456-15C>A) c.11411-15C>A (n.11411-15C>A) c.11564-15C>A (n.11564-15C>A) c.10469-15C>A (n.10469-15C>A) c.11320-15C>A (n.11320-15C>A) c.6653-15C>A (n.6653-15C>A) c.6206-15C>A (n.6206-15C>A) c.5543-15C>A (n.5543-15C>A) c.10058-15C>A (n.10058-15C>A) | gnomAD v4 |
| 5 | g.13735948C= | CA1528415147 | DNAH5 | c.11456-16G= (n.11456-16G=) c.11411-16G= (n.11411-16G=) c.11564-16G= (n.11564-16G=) c.10469-16G= (n.10469-16G=) c.11320-16G= (n.11320-16G=) c.6653-16G= (n.6653-16G=) c.6206-16G= (n.6206-16G=) c.5543-16G= (n.5543-16G=) c.10058-16G= (n.10058-16G=) | |
| 5 | g.13735948C>T | CA557863820 | DNAH5 | c.11456-16G>A (n.11456-16G>A) c.11411-16G>A (n.11411-16G>A) c.11564-16G>A (n.11564-16G>A) c.10469-16G>A (n.10469-16G>A) c.11320-16G>A (n.11320-16G>A) c.6653-16G>A (n.6653-16G>A) c.6206-16G>A (n.6206-16G>A) c.5543-16G>A (n.5543-16G>A) c.10058-16G>A (n.10058-16G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735948_13735953delinsCAAGGT | CA1528415146 | DNAH5 | c.11456-21_11456-16delinsACCTTG (n.11456-21_11456-16delinsACCTTG) c.11411-21_11411-16delinsACCTTG (n.11411-21_11411-16delinsACCTTG) c.11564-21_11564-16delinsACCTTG (n.11564-21_11564-16delinsACCTTG) c.10469-21_10469-16delinsACCTTG (n.10469-21_10469-16delinsACCTTG) c.11320-21_11320-16delinsACCTTG (n.11320-21_11320-16delinsACCTTG) c.6653-21_6653-16delinsACCTTG (n.6653-21_6653-16delinsACCTTG) c.6206-21_6206-16delinsACCTTG (n.6206-21_6206-16delinsACCTTG) c.5543-21_5543-16delinsACCTTG (n.5543-21_5543-16delinsACCTTG) c.10058-21_10058-16delinsACCTTG (n.10058-21_10058-16delinsACCTTG) | |
| 5 | g.13735949_13735953del | CA3201955 | DNAH5 | c.11456-21_11456-17del (n.11456-21_11456-17del) c.11411-21_11411-17del (n.11411-21_11411-17del) c.11564-21_11564-17del (n.11564-21_11564-17del) c.10469-21_10469-17del (n.10469-21_10469-17del) c.11320-21_11320-17del (n.11320-21_11320-17del) c.6653-21_6653-17del (n.6653-21_6653-17del) c.6206-21_6206-17del (n.6206-21_6206-17del) c.5543-21_5543-17del (n.5543-21_5543-17del) c.10058-21_10058-17del (n.10058-21_10058-17del) | dbSNP ExAC |
| 5 | g.13735950A= | CA1528415148 | DNAH5 | c.11456-18T= (n.11456-18T=) c.11411-18T= (n.11411-18T=) c.11564-18T= (n.11564-18T=) c.10469-18T= (n.10469-18T=) c.11320-18T= (n.11320-18T=) c.6653-18T= (n.6653-18T=) c.6206-18T= (n.6206-18T=) c.5543-18T= (n.5543-18T=) c.10058-18T= (n.10058-18T=) | |
| 5 | g.13735950A>G | CA1528415149 | DNAH5 | c.11456-18T>C (n.11456-18T>C) c.11411-18T>C (n.11411-18T>C) c.11564-18T>C (n.11564-18T>C) c.10469-18T>C (n.10469-18T>C) c.11320-18T>C (n.11320-18T>C) c.6653-18T>C (n.6653-18T>C) c.6206-18T>C (n.6206-18T>C) c.5543-18T>C (n.5543-18T>C) c.10058-18T>C (n.10058-18T>C) | dbSNP |
| 5 | g.13735951G>T | CA2578269823 | DNAH5 | c.11456-19C>A (n.11456-19C>A) c.11411-19C>A (n.11411-19C>A) c.11564-19C>A (n.11564-19C>A) c.10469-19C>A (n.10469-19C>A) c.11320-19C>A (n.11320-19C>A) c.6653-19C>A (n.6653-19C>A) c.6206-19C>A (n.6206-19C>A) c.5543-19C>A (n.5543-19C>A) c.10058-19C>A (n.10058-19C>A) | |
| 5 | g.13735952G>A | CA2578269824 | DNAH5 | c.11456-20C>T (n.11456-20C>T) c.11411-20C>T (n.11411-20C>T) c.11564-20C>T (n.11564-20C>T) c.10469-20C>T (n.10469-20C>T) c.11320-20C>T (n.11320-20C>T) c.6653-20C>T (n.6653-20C>T) c.6206-20C>T (n.6206-20C>T) c.5543-20C>T (n.5543-20C>T) c.10058-20C>T (n.10058-20C>T) | ClinVar |
| 5 | g.13735952G= | CA1528415150 | DNAH5 | c.11456-20C= (n.11456-20C=) c.11411-20C= (n.11411-20C=) c.11564-20C= (n.11564-20C=) c.10469-20C= (n.10469-20C=) c.11320-20C= (n.11320-20C=) c.6653-20C= (n.6653-20C=) c.6206-20C= (n.6206-20C=) c.5543-20C= (n.5543-20C=) c.10058-20C= (n.10058-20C=) | |
| 5 | g.13735952G>T | CA557863821 | DNAH5 | c.11456-20C>A (n.11456-20C>A) c.11411-20C>A (n.11411-20C>A) c.11564-20C>A (n.11564-20C>A) c.10469-20C>A (n.10469-20C>A) c.11320-20C>A (n.11320-20C>A) c.6653-20C>A (n.6653-20C>A) c.6206-20C>A (n.6206-20C>A) c.5543-20C>A (n.5543-20C>A) c.10058-20C>A (n.10058-20C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735953T>A | CA557863822 | DNAH5 | c.11456-21A>T (n.11456-21A>T) c.11411-21A>T (n.11411-21A>T) c.11564-21A>T (n.11564-21A>T) c.10469-21A>T (n.10469-21A>T) c.11320-21A>T (n.11320-21A>T) c.6653-21A>T (n.6653-21A>T) c.6206-21A>T (n.6206-21A>T) c.5543-21A>T (n.5543-21A>T) c.10058-21A>T (n.10058-21A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735953T>C | CA3201956 | DNAH5 | c.11456-21A>G (n.11456-21A>G) c.11411-21A>G (n.11411-21A>G) c.11564-21A>G (n.11564-21A>G) c.10469-21A>G (n.10469-21A>G) c.11320-21A>G (n.11320-21A>G) c.6653-21A>G (n.6653-21A>G) c.6206-21A>G (n.6206-21A>G) c.5543-21A>G (n.5543-21A>G) c.10058-21A>G (n.10058-21A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735953T= | CA1528415151 | DNAH5 | c.11456-21A= (n.11456-21A=) c.11411-21A= (n.11411-21A=) c.11564-21A= (n.11564-21A=) c.10469-21A= (n.10469-21A=) c.11320-21A= (n.11320-21A=) c.6653-21A= (n.6653-21A=) c.6206-21A= (n.6206-21A=) c.5543-21A= (n.5543-21A=) c.10058-21A= (n.10058-21A=) | |
| 5 | g.13735955G>A | CA3201957 | DNAH5 | c.11456-23C>T (n.11456-23C>T) c.11411-23C>T (n.11411-23C>T) c.11564-23C>T (n.11564-23C>T) c.10469-23C>T (n.10469-23C>T) c.11320-23C>T (n.11320-23C>T) c.6653-23C>T (n.6653-23C>T) c.6206-23C>T (n.6206-23C>T) c.5543-23C>T (n.5543-23C>T) c.10058-23C>T (n.10058-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735955G>C | CA557863823 | DNAH5 | c.11456-23C>G (n.11456-23C>G) c.11411-23C>G (n.11411-23C>G) c.11564-23C>G (n.11564-23C>G) c.10469-23C>G (n.10469-23C>G) c.11320-23C>G (n.11320-23C>G) c.6653-23C>G (n.6653-23C>G) c.6206-23C>G (n.6206-23C>G) c.5543-23C>G (n.5543-23C>G) c.10058-23C>G (n.10058-23C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735955G= | CA1528415152 | DNAH5 | c.11456-23C= (n.11456-23C=) c.11411-23C= (n.11411-23C=) c.11564-23C= (n.11564-23C=) c.10469-23C= (n.10469-23C=) c.11320-23C= (n.11320-23C=) c.6653-23C= (n.6653-23C=) c.6206-23C= (n.6206-23C=) c.5543-23C= (n.5543-23C=) c.10058-23C= (n.10058-23C=) | |
| 5 | g.13735956C= | CA1528415153 | DNAH5 | c.11456-24G= (n.11456-24G=) c.11411-24G= (n.11411-24G=) c.11564-24G= (n.11564-24G=) c.10469-24G= (n.10469-24G=) c.11320-24G= (n.11320-24G=) c.6653-24G= (n.6653-24G=) c.6206-24G= (n.6206-24G=) c.5543-24G= (n.5543-24G=) c.10058-24G= (n.10058-24G=) | |
| 5 | g.13735956C>T | CA3201958 | DNAH5 | c.11456-24G>A (n.11456-24G>A) c.11411-24G>A (n.11411-24G>A) c.11564-24G>A (n.11564-24G>A) c.10469-24G>A (n.10469-24G>A) c.11320-24G>A (n.11320-24G>A) c.6653-24G>A (n.6653-24G>A) c.6206-24G>A (n.6206-24G>A) c.5543-24G>A (n.5543-24G>A) c.10058-24G>A (n.10058-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735957A= | CA1528415154 | DNAH5 | c.11456-25T= (n.11456-25T=) c.11411-25T= (n.11411-25T=) c.11564-25T= (n.11564-25T=) c.10469-25T= (n.10469-25T=) c.11320-25T= (n.11320-25T=) c.6653-25T= (n.6653-25T=) c.6206-25T= (n.6206-25T=) c.5543-25T= (n.5543-25T=) c.10058-25T= (n.10058-25T=) | |
| 5 | g.13735957A>C | CA113927651 | DNAH5 | c.11456-25T>G (n.11456-25T>G) c.11411-25T>G (n.11411-25T>G) c.11564-25T>G (n.11564-25T>G) c.10469-25T>G (n.10469-25T>G) c.11320-25T>G (n.11320-25T>G) c.6653-25T>G (n.6653-25T>G) c.6206-25T>G (n.6206-25T>G) c.5543-25T>G (n.5543-25T>G) c.10058-25T>G (n.10058-25T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735957A>T | CA3201959 | DNAH5 | c.11456-25T>A (n.11456-25T>A) c.11411-25T>A (n.11411-25T>A) c.11564-25T>A (n.11564-25T>A) c.10469-25T>A (n.10469-25T>A) c.11320-25T>A (n.11320-25T>A) c.6653-25T>A (n.6653-25T>A) c.6206-25T>A (n.6206-25T>A) c.5543-25T>A (n.5543-25T>A) c.10058-25T>A (n.10058-25T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13735958T>A | CA2673268066 | DNAH5 | c.11456-26A>T (n.11456-26A>T) c.11411-26A>T (n.11411-26A>T) c.11564-26A>T (n.11564-26A>T) c.10469-26A>T (n.10469-26A>T) c.11320-26A>T (n.11320-26A>T) c.6653-26A>T (n.6653-26A>T) c.6206-26A>T (n.6206-26A>T) c.5543-26A>T (n.5543-26A>T) c.10058-26A>T (n.10058-26A>T) | gnomAD v4 |
| 5 | g.13735958T>C | CA2673268067 | DNAH5 | c.11456-26A>G (n.11456-26A>G) c.11411-26A>G (n.11411-26A>G) c.11564-26A>G (n.11564-26A>G) c.10469-26A>G (n.10469-26A>G) c.11320-26A>G (n.11320-26A>G) c.6653-26A>G (n.6653-26A>G) c.6206-26A>G (n.6206-26A>G) c.5543-26A>G (n.5543-26A>G) c.10058-26A>G (n.10058-26A>G) | gnomAD v4 |
| 5 | g.13735959G>T | CA2673268068 | DNAH5 | c.11456-27C>A (n.11456-27C>A) c.11411-27C>A (n.11411-27C>A) c.11564-27C>A (n.11564-27C>A) c.10469-27C>A (n.10469-27C>A) c.11320-27C>A (n.11320-27C>A) c.6653-27C>A (n.6653-27C>A) c.6206-27C>A (n.6206-27C>A) c.5543-27C>A (n.5543-27C>A) c.10058-27C>A (n.10058-27C>A) | gnomAD v4 |
| 5 | g.13735960T>C | CA2578269825 | DNAH5 | c.11456-28A>G (n.11456-28A>G) c.11411-28A>G (n.11411-28A>G) c.11564-28A>G (n.11564-28A>G) c.10469-28A>G (n.10469-28A>G) c.11320-28A>G (n.11320-28A>G) c.6653-28A>G (n.6653-28A>G) c.6206-28A>G (n.6206-28A>G) c.5543-28A>G (n.5543-28A>G) c.10058-28A>G (n.10058-28A>G) | gnomAD v4 |
| 5 | g.13735961G>A | CA3201960 | DNAH5 | c.11456-29C>T (n.11456-29C>T) c.11411-29C>T (n.11411-29C>T) c.11564-29C>T (n.11564-29C>T) c.10469-29C>T (n.10469-29C>T) c.11320-29C>T (n.11320-29C>T) c.6653-29C>T (n.6653-29C>T) c.6206-29C>T (n.6206-29C>T) c.5543-29C>T (n.5543-29C>T) c.10058-29C>T (n.10058-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735961G= | CA1528415155 | DNAH5 | c.11456-29C= (n.11456-29C=) c.11411-29C= (n.11411-29C=) c.11564-29C= (n.11564-29C=) c.10469-29C= (n.10469-29C=) c.11320-29C= (n.11320-29C=) c.6653-29C= (n.6653-29C=) c.6206-29C= (n.6206-29C=) c.5543-29C= (n.5543-29C=) c.10058-29C= (n.10058-29C=) | |
| 5 | g.13735961G>T | CA2673268069 | DNAH5 | c.11456-29C>A (n.11456-29C>A) c.11411-29C>A (n.11411-29C>A) c.11564-29C>A (n.11564-29C>A) c.10469-29C>A (n.10469-29C>A) c.11320-29C>A (n.11320-29C>A) c.6653-29C>A (n.6653-29C>A) c.6206-29C>A (n.6206-29C>A) c.5543-29C>A (n.5543-29C>A) c.10058-29C>A (n.10058-29C>A) | gnomAD v4 |
| 5 | g.13735962C>A | CA2578269826 | DNAH5 | c.11456-30G>T (n.11456-30G>T) c.11411-30G>T (n.11411-30G>T) c.11564-30G>T (n.11564-30G>T) c.10469-30G>T (n.10469-30G>T) c.11320-30G>T (n.11320-30G>T) c.6653-30G>T (n.6653-30G>T) c.6206-30G>T (n.6206-30G>T) c.5543-30G>T (n.5543-30G>T) c.10058-30G>T (n.10058-30G>T) | |
| 5 | g.13735962_13735963delinsCT | CA1528415156 | DNAH5 | c.11456-31_11456-30delinsAG (n.11456-31_11456-30delinsAG) c.11411-31_11411-30delinsAG (n.11411-31_11411-30delinsAG) c.11564-31_11564-30delinsAG (n.11564-31_11564-30delinsAG) c.10469-31_10469-30delinsAG (n.10469-31_10469-30delinsAG) c.11320-31_11320-30delinsAG (n.11320-31_11320-30delinsAG) c.6653-31_6653-30delinsAG (n.6653-31_6653-30delinsAG) c.6206-31_6206-30delinsAG (n.6206-31_6206-30delinsAG) c.5543-31_5543-30delinsAG (n.5543-31_5543-30delinsAG) c.10058-31_10058-30delinsAG (n.10058-31_10058-30delinsAG) | |
| 5 | g.13735963del | CA3201961 | DNAH5 | c.11456-31del (n.11456-31del) c.11411-31del (n.11411-31del) c.11564-31del (n.11564-31del) c.10469-31del (n.10469-31del) c.11320-31del (n.11320-31del) c.6653-31del (n.6653-31del) c.6206-31del (n.6206-31del) c.5543-31del (n.5543-31del) c.10058-31del (n.10058-31del) | dbSNP ExAC |
| 5 | g.13735963T>C | CA557863824 | DNAH5 | c.11456-31A>G (n.11456-31A>G) c.11411-31A>G (n.11411-31A>G) c.11564-31A>G (n.11564-31A>G) c.10469-31A>G (n.10469-31A>G) c.11320-31A>G (n.11320-31A>G) c.6653-31A>G (n.6653-31A>G) c.6206-31A>G (n.6206-31A>G) c.5543-31A>G (n.5543-31A>G) c.10058-31A>G (n.10058-31A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735963T= | CA1528415157 | DNAH5 | c.11456-31A= (n.11456-31A=) c.11411-31A= (n.11411-31A=) c.11564-31A= (n.11564-31A=) c.10469-31A= (n.10469-31A=) c.11320-31A= (n.11320-31A=) c.6653-31A= (n.6653-31A=) c.6206-31A= (n.6206-31A=) c.5543-31A= (n.5543-31A=) c.10058-31A= (n.10058-31A=) | |
| 5 | g.13735964A>G | CA2673268070 | DNAH5 | c.11456-32T>C (n.11456-32T>C) c.11411-32T>C (n.11411-32T>C) c.11564-32T>C (n.11564-32T>C) c.10469-32T>C (n.10469-32T>C) c.11320-32T>C (n.11320-32T>C) c.6653-32T>C (n.6653-32T>C) c.6206-32T>C (n.6206-32T>C) c.5543-32T>C (n.5543-32T>C) c.10058-32T>C (n.10058-32T>C) | gnomAD v4 |
| 5 | g.13735965C>A | CA113927663 | DNAH5 | c.11456-33G>T (n.11456-33G>T) c.11411-33G>T (n.11411-33G>T) c.11564-33G>T (n.11564-33G>T) c.10469-33G>T (n.10469-33G>T) c.11320-33G>T (n.11320-33G>T) c.6653-33G>T (n.6653-33G>T) c.6206-33G>T (n.6206-33G>T) c.5543-33G>T (n.5543-33G>T) c.10058-33G>T (n.10058-33G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735965C= | CA1528415159 | DNAH5 | c.11456-33G= (n.11456-33G=) c.11411-33G= (n.11411-33G=) c.11564-33G= (n.11564-33G=) c.10469-33G= (n.10469-33G=) c.11320-33G= (n.11320-33G=) c.6653-33G= (n.6653-33G=) c.6206-33G= (n.6206-33G=) c.5543-33G= (n.5543-33G=) c.10058-33G= (n.10058-33G=) | |
| 5 | g.13735965C>T | CA3201963 | DNAH5 | c.11456-33G>A (n.11456-33G>A) c.11411-33G>A (n.11411-33G>A) c.11564-33G>A (n.11564-33G>A) c.10469-33G>A (n.10469-33G>A) c.11320-33G>A (n.11320-33G>A) c.6653-33G>A (n.6653-33G>A) c.6206-33G>A (n.6206-33G>A) c.5543-33G>A (n.5543-33G>A) c.10058-33G>A (n.10058-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735965_13735972delinsCGAGAGAG | CA1528415158 | DNAH5 | c.11456-40_11456-33delinsCTCTCTCG (n.11456-40_11456-33delinsCTCTCTCG) c.11411-40_11411-33delinsCTCTCTCG (n.11411-40_11411-33delinsCTCTCTCG) c.11564-40_11564-33delinsCTCTCTCG (n.11564-40_11564-33delinsCTCTCTCG) c.10469-40_10469-33delinsCTCTCTCG (n.10469-40_10469-33delinsCTCTCTCG) c.11320-40_11320-33delinsCTCTCTCG (n.11320-40_11320-33delinsCTCTCTCG) c.6653-40_6653-33delinsCTCTCTCG (n.6653-40_6653-33delinsCTCTCTCG) c.6206-40_6206-33delinsCTCTCTCG (n.6206-40_6206-33delinsCTCTCTCG) c.5543-40_5543-33delinsCTCTCTCG (n.5543-40_5543-33delinsCTCTCTCG) c.10058-40_10058-33delinsCTCTCTCG (n.10058-40_10058-33delinsCTCTCTCG) | |
| 5 | g.13735966G>A | CA3201964 | DNAH5 | c.11456-34C>T (n.11456-34C>T) c.11411-34C>T (n.11411-34C>T) c.11564-34C>T (n.11564-34C>T) c.10469-34C>T (n.10469-34C>T) c.11320-34C>T (n.11320-34C>T) c.6653-34C>T (n.6653-34C>T) c.6206-34C>T (n.6206-34C>T) c.5543-34C>T (n.5543-34C>T) c.10058-34C>T (n.10058-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13735966G>C | CA557863825 | DNAH5 | c.11456-34C>G (n.11456-34C>G) c.11411-34C>G (n.11411-34C>G) c.11564-34C>G (n.11564-34C>G) c.10469-34C>G (n.10469-34C>G) c.11320-34C>G (n.11320-34C>G) c.6653-34C>G (n.6653-34C>G) c.6206-34C>G (n.6206-34C>G) c.5543-34C>G (n.5543-34C>G) c.10058-34C>G (n.10058-34C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13735966G= | CA1528415160 | DNAH5 | c.11456-34C= (n.11456-34C=) c.11411-34C= (n.11411-34C=) c.11564-34C= (n.11564-34C=) c.10469-34C= (n.10469-34C=) c.11320-34C= (n.11320-34C=) c.6653-34C= (n.6653-34C=) c.6206-34C= (n.6206-34C=) c.5543-34C= (n.5543-34C=) c.10058-34C= (n.10058-34C=) | |
| 5 | g.13735966G>T | CA2673268071 | DNAH5 | c.11456-34C>A (n.11456-34C>A) c.11411-34C>A (n.11411-34C>A) c.11564-34C>A (n.11564-34C>A) c.10469-34C>A (n.10469-34C>A) c.11320-34C>A (n.11320-34C>A) c.6653-34C>A (n.6653-34C>A) c.6206-34C>A (n.6206-34C>A) c.5543-34C>A (n.5543-34C>A) c.10058-34C>A (n.10058-34C>A) | gnomAD v4 |
| 5 | g.13735971_13735972del | CA2673268072 | DNAH5 | c.11456-35_11456-34del (n.11456-35_11456-34del) c.11411-35_11411-34del (n.11411-35_11411-34del) c.11564-35_11564-34del (n.11564-35_11564-34del) c.10469-35_10469-34del (n.10469-35_10469-34del) c.11320-35_11320-34del (n.11320-35_11320-34del) c.6653-35_6653-34del (n.6653-35_6653-34del) c.6206-35_6206-34del (n.6206-35_6206-34del) c.5543-35_5543-34del (n.5543-35_5543-34del) c.10058-35_10058-34del (n.10058-35_10058-34del) | gnomAD v4 |
| 5 | g.13735968_13735974del | CA3201962 | DNAH5 | c.11456-40_11456-34del (n.11456-40_11456-34del) c.11411-40_11411-34del (n.11411-40_11411-34del) c.11564-40_11564-34del (n.11564-40_11564-34del) c.10469-40_10469-34del (n.10469-40_10469-34del) c.11320-40_11320-34del (n.11320-40_11320-34del) c.6653-40_6653-34del (n.6653-40_6653-34del) c.6206-40_6206-34del (n.6206-40_6206-34del) c.5543-40_5543-34del (n.5543-40_5543-34del) c.10058-40_10058-34del (n.10058-40_10058-34del) | dbSNP ExAC |
| 5 | g.13735968G>T | CA2502727638 | DNAH5 | c.11456-36C>A (n.11456-36C>A) c.11411-36C>A (n.11411-36C>A) c.11564-36C>A (n.11564-36C>A) c.10469-36C>A (n.10469-36C>A) c.11320-36C>A (n.11320-36C>A) c.6653-36C>A (n.6653-36C>A) c.6206-36C>A (n.6206-36C>A) c.5543-36C>A (n.5543-36C>A) c.10058-36C>A (n.10058-36C>A) | |
| 5 | g.13735970G>A | CA1528415162 | DNAH5 | c.11456-38C>T (n.11456-38C>T) c.11411-38C>T (n.11411-38C>T) c.11564-38C>T (n.11564-38C>T) c.10469-38C>T (n.10469-38C>T) c.11320-38C>T (n.11320-38C>T) c.6653-38C>T (n.6653-38C>T) c.6206-38C>T (n.6206-38C>T) c.5543-38C>T (n.5543-38C>T) c.10058-38C>T (n.10058-38C>T) | dbSNP |
| 5 | g.13735970G= | CA1528415161 | DNAH5 | c.11456-38C= (n.11456-38C=) c.11411-38C= (n.11411-38C=) c.11564-38C= (n.11564-38C=) c.10469-38C= (n.10469-38C=) c.11320-38C= (n.11320-38C=) c.6653-38C= (n.6653-38C=) c.6206-38C= (n.6206-38C=) c.5543-38C= (n.5543-38C=) c.10058-38C= (n.10058-38C=) | |
| 5 | g.13735970G>T | CA2673268073 | DNAH5 | c.11456-38C>A (n.11456-38C>A) c.11411-38C>A (n.11411-38C>A) c.11564-38C>A (n.11564-38C>A) c.10469-38C>A (n.10469-38C>A) c.11320-38C>A (n.11320-38C>A) c.6653-38C>A (n.6653-38C>A) c.6206-38C>A (n.6206-38C>A) c.5543-38C>A (n.5543-38C>A) c.10058-38C>A (n.10058-38C>A) | gnomAD v4 |
| 5 | g.13735972G= | CA1528415163 | DNAH5 | c.11456-40C= (n.11456-40C=) c.11411-40C= (n.11411-40C=) c.11564-40C= (n.11564-40C=) c.10469-40C= (n.10469-40C=) c.11320-40C= (n.11320-40C=) c.6653-40C= (n.6653-40C=) c.6206-40C= (n.6206-40C=) c.5543-40C= (n.5543-40C=) c.10058-40C= (n.10058-40C=) | |
| 5 | g.13735972G>T | CA1528415164 | DNAH5 | c.11456-40C>A (n.11456-40C>A) c.11411-40C>A (n.11411-40C>A) c.11564-40C>A (n.11564-40C>A) c.10469-40C>A (n.10469-40C>A) c.11320-40C>A (n.11320-40C>A) c.6653-40C>A (n.6653-40C>A) c.6206-40C>A (n.6206-40C>A) c.5543-40C>A (n.5543-40C>A) c.10058-40C>A (n.10058-40C>A) | dbSNP gnomAD v4 |