| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13752251_13752252delinsCA | CA1528422960 | DNAH5 | c.10910_10911delinsTG (p.Leu3637=) c.10865_10866delinsTG (p.Leu3622=) c.11018_11019delinsTG (p.Leu3673=) c.9923_9924delinsTG (p.Leu3308=) c.6107_6108delinsTG (p.Leu2036=) c.5660_5661delinsTG (p.Leu1887=) c.4997_4998delinsTG (p.Leu1666=) c.9512_9513delinsTG (p.Leu3171=) | |
| 5 | g.13752252del | CA3202099 | DNAH5 | c.10910del (p.Leu3637ArgfsTer20) c.10865del (p.Leu3622ArgfsTer20) c.11018del (p.Leu3673ArgfsTer20) c.9923del (p.Leu3308ArgfsTer20) c.6107del (p.Leu2036ArgfsTer20) c.5660del (p.Leu1887ArgfsTer20) c.4997del (p.Leu1666ArgfsTer20) c.9512del (p.Leu3171ArgfsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13752252A= | CA1528422961 | DNAH5 | c.10910T= (p.Leu3637=) c.10865T= (p.Leu3622=) c.11018T= (p.Leu3673=) c.9923T= (p.Leu3308=) c.6107T= (p.Leu2036=) c.5660T= (p.Leu1887=) c.4997T= (p.Leu1666=) c.9512T= (p.Leu3171=) | |
| 5 | g.13752252A>C | CA359190375 | DNAH5 | c.10910T>G (p.Leu3637Arg) c.10865T>G (p.Leu3622Arg) c.11018T>G (p.Leu3673Arg) c.9923T>G (p.Leu3308Arg) c.6107T>G (p.Leu2036Arg) c.5660T>G (p.Leu1887Arg) c.4997T>G (p.Leu1666Arg) c.9512T>G (p.Leu3171Arg) | |
| 5 | g.13752252A>G | CA359190380 | DNAH5 | c.10910T>C (p.Leu3637Pro) c.10865T>C (p.Leu3622Pro) c.11018T>C (p.Leu3673Pro) c.9923T>C (p.Leu3308Pro) c.6107T>C (p.Leu2036Pro) c.5660T>C (p.Leu1887Pro) c.4997T>C (p.Leu1666Pro) c.9512T>C (p.Leu3171Pro) | |
| 5 | g.13752252A>T | CA359190386 | DNAH5 | c.10910T>A (p.Leu3637Gln) c.10865T>A (p.Leu3622Gln) c.11018T>A (p.Leu3673Gln) c.9923T>A (p.Leu3308Gln) c.6107T>A (p.Leu2036Gln) c.5660T>A (p.Leu1887Gln) c.4997T>A (p.Leu1666Gln) c.9512T>A (p.Leu3171Gln) | dbSNP gnomAD v4 |
| 5 | g.13752253G>A | CA3202100 | DNAH5 | c.10909C>T (p.Leu3637=) c.10864C>T (p.Leu3622=) c.11017C>T (p.Leu3673=) c.9922C>T (p.Leu3308=) c.6106C>T (p.Leu2036=) c.5659C>T (p.Leu1887=) c.4996C>T (p.Leu1666=) c.9511C>T (p.Leu3171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13752253G>C | CA359190389 | DNAH5 | c.10909C>G (p.Leu3637Val) c.10864C>G (p.Leu3622Val) c.11017C>G (p.Leu3673Val) c.9922C>G (p.Leu3308Val) c.6106C>G (p.Leu2036Val) c.5659C>G (p.Leu1887Val) c.4996C>G (p.Leu1666Val) c.9511C>G (p.Leu3171Val) | gnomAD v4 |
| 5 | g.13752253G= | CA1528422962 | DNAH5 | c.10909C= (p.Leu3637=) c.10864C= (p.Leu3622=) c.11017C= (p.Leu3673=) c.9922C= (p.Leu3308=) c.6106C= (p.Leu2036=) c.5659C= (p.Leu1887=) c.4996C= (p.Leu1666=) c.9511C= (p.Leu3171=) | |
| 5 | g.13752253G>T | CA359190391 | DNAH5 | c.10909C>A (p.Leu3637Met) c.10864C>A (p.Leu3622Met) c.11017C>A (p.Leu3673Met) c.9922C>A (p.Leu3308Met) c.6106C>A (p.Leu2036Met) c.5659C>A (p.Leu1887Met) c.4996C>A (p.Leu1666Met) c.9511C>A (p.Leu3171Met) | dbSNP |
| 5 | g.13752254del | CA359190393 | DNAH5 | c.10909del (p.Leu3637TrpfsTer20) c.10864del (p.Leu3622TrpfsTer20) c.11017del (p.Leu3673TrpfsTer20) c.9922del (p.Leu3308TrpfsTer20) c.6106del (p.Leu2036TrpfsTer20) c.5659del (p.Leu1887TrpfsTer20) c.4996del (p.Leu1666TrpfsTer20) c.9511del (p.Leu3171TrpfsTer20) | |
| 5 | g.13752254G>A | CA443248722 | DNAH5 | c.10908C>T (p.His3636=) c.10863C>T (p.His3621=) c.11016C>T (p.His3672=) c.9921C>T (p.His3307=) c.6105C>T (p.His2035=) c.5658C>T (p.His1886=) c.4995C>T (p.His1665=) c.9510C>T (p.His3170=) | gnomAD v4 |
| 5 | g.13752254G>C | CA359190399 | DNAH5 | c.10908C>G (p.His3636Gln) c.10863C>G (p.His3621Gln) c.11016C>G (p.His3672Gln) c.9921C>G (p.His3307Gln) c.6105C>G (p.His2035Gln) c.5658C>G (p.His1886Gln) c.4995C>G (p.His1665Gln) c.9510C>G (p.His3170Gln) | |
| 5 | g.13752254G>T | CA359190401 | DNAH5 | c.10908C>A (p.His3636Gln) c.10863C>A (p.His3621Gln) c.11016C>A (p.His3672Gln) c.9921C>A (p.His3307Gln) c.6105C>A (p.His2035Gln) c.5658C>A (p.His1886Gln) c.4995C>A (p.His1665Gln) c.9510C>A (p.His3170Gln) | |
| 5 | g.13752255T>A | CA359190407 | DNAH5 | c.10907A>T (p.His3636Leu) c.10862A>T (p.His3621Leu) c.11015A>T (p.His3672Leu) c.9920A>T (p.His3307Leu) c.6104A>T (p.His2035Leu) c.5657A>T (p.His1886Leu) c.4994A>T (p.His1665Leu) c.9509A>T (p.His3170Leu) | |
| 5 | g.13752255T>C | CA359190410 | DNAH5 | c.10907A>G (p.His3636Arg) c.10862A>G (p.His3621Arg) c.11015A>G (p.His3672Arg) c.9920A>G (p.His3307Arg) c.6104A>G (p.His2035Arg) c.5657A>G (p.His1886Arg) c.4994A>G (p.His1665Arg) c.9509A>G (p.His3170Arg) | COSMIC |
| 5 | g.13752255T>G | CA359190412 | DNAH5 | c.10907A>C (p.His3636Pro) c.10862A>C (p.His3621Pro) c.11015A>C (p.His3672Pro) c.9920A>C (p.His3307Pro) c.6104A>C (p.His2035Pro) c.5657A>C (p.His1886Pro) c.4994A>C (p.His1665Pro) c.9509A>C (p.His3170Pro) | |
| 5 | g.13752256G>A | CA359190414 | DNAH5 | c.10906C>T (p.His3636Tyr) c.10861C>T (p.His3621Tyr) c.11014C>T (p.His3672Tyr) c.9919C>T (p.His3307Tyr) c.6103C>T (p.His2035Tyr) c.5656C>T (p.His1886Tyr) c.4993C>T (p.His1665Tyr) c.9508C>T (p.His3170Tyr) | |
| 5 | g.13752256G>C | CA359190416 | DNAH5 | c.10906C>G (p.His3636Asp) c.10861C>G (p.His3621Asp) c.11014C>G (p.His3672Asp) c.9919C>G (p.His3307Asp) c.6103C>G (p.His2035Asp) c.5656C>G (p.His1886Asp) c.4993C>G (p.His1665Asp) c.9508C>G (p.His3170Asp) | |
| 5 | g.13752256G>T | CA359190419 | DNAH5 | c.10906C>A (p.His3636Asn) c.10861C>A (p.His3621Asn) c.11014C>A (p.His3672Asn) c.9919C>A (p.His3307Asn) c.6103C>A (p.His2035Asn) c.5656C>A (p.His1886Asn) c.4993C>A (p.His1665Asn) c.9508C>A (p.His3170Asn) | |
| 5 | g.13752257G>A | CA443248725 | DNAH5 | c.10905C>T (p.Asn3635=) c.10860C>T (p.Asn3620=) c.11013C>T (p.Asn3671=) c.9918C>T (p.Asn3306=) c.6102C>T (p.Asn2034=) c.5655C>T (p.Asn1885=) c.4992C>T (p.Asn1664=) c.9507C>T (p.Asn3169=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13752257G>C | CA359190424 | DNAH5 | c.10905C>G (p.Asn3635Lys) c.10860C>G (p.Asn3620Lys) c.11013C>G (p.Asn3671Lys) c.9918C>G (p.Asn3306Lys) c.6102C>G (p.Asn2034Lys) c.5655C>G (p.Asn1885Lys) c.4992C>G (p.Asn1664Lys) c.9507C>G (p.Asn3169Lys) | |
| 5 | g.13752257G= | CA1528422963 | DNAH5 | c.10905C= (p.Asn3635=) c.10860C= (p.Asn3620=) c.11013C= (p.Asn3671=) c.9918C= (p.Asn3306=) c.6102C= (p.Asn2034=) c.5655C= (p.Asn1885=) c.4992C= (p.Asn1664=) c.9507C= (p.Asn3169=) | |
| 5 | g.13752257G>T | CA359190422 | DNAH5 | c.10905C>A (p.Asn3635Lys) c.10860C>A (p.Asn3620Lys) c.11013C>A (p.Asn3671Lys) c.9918C>A (p.Asn3306Lys) c.6102C>A (p.Asn2034Lys) c.5655C>A (p.Asn1885Lys) c.4992C>A (p.Asn1664Lys) c.9507C>A (p.Asn3169Lys) | |
| 5 | g.13752258T>A | CA359190428 | DNAH5 | c.10904A>T (p.Asn3635Ile) c.10859A>T (p.Asn3620Ile) c.11012A>T (p.Asn3671Ile) c.9917A>T (p.Asn3306Ile) c.6101A>T (p.Asn2034Ile) c.5654A>T (p.Asn1885Ile) c.4991A>T (p.Asn1664Ile) c.9506A>T (p.Asn3169Ile) | |
| 5 | g.13752258T>C | CA359190431 | DNAH5 | c.10904A>G (p.Asn3635Ser) c.10859A>G (p.Asn3620Ser) c.11012A>G (p.Asn3671Ser) c.9917A>G (p.Asn3306Ser) c.6101A>G (p.Asn2034Ser) c.5654A>G (p.Asn1885Ser) c.4991A>G (p.Asn1664Ser) c.9506A>G (p.Asn3169Ser) | gnomAD v4 |
| 5 | g.13752258T>G | CA359190434 | DNAH5 | c.10904A>C (p.Asn3635Thr) c.10859A>C (p.Asn3620Thr) c.11012A>C (p.Asn3671Thr) c.9917A>C (p.Asn3306Thr) c.6101A>C (p.Asn2034Thr) c.5654A>C (p.Asn1885Thr) c.4991A>C (p.Asn1664Thr) c.9506A>C (p.Asn3169Thr) | |
| 5 | g.13752259T>A | CA359190437 | DNAH5 | c.10903A>T (p.Asn3635Tyr) c.10858A>T (p.Asn3620Tyr) c.11011A>T (p.Asn3671Tyr) c.9916A>T (p.Asn3306Tyr) c.6100A>T (p.Asn2034Tyr) c.5653A>T (p.Asn1885Tyr) c.4990A>T (p.Asn1664Tyr) c.9505A>T (p.Asn3169Tyr) | |
| 5 | g.13752259T>C | CA359190438 | DNAH5 | c.10903A>G (p.Asn3635Asp) c.10858A>G (p.Asn3620Asp) c.11011A>G (p.Asn3671Asp) c.9916A>G (p.Asn3306Asp) c.6100A>G (p.Asn2034Asp) c.5653A>G (p.Asn1885Asp) c.4990A>G (p.Asn1664Asp) c.9505A>G (p.Asn3169Asp) | |
| 5 | g.13752259T>G | CA113917848 | DNAH5 | c.10903A>C (p.Asn3635His) c.10858A>C (p.Asn3620His) c.11011A>C (p.Asn3671His) c.9916A>C (p.Asn3306His) c.6100A>C (p.Asn2034His) c.5653A>C (p.Asn1885His) c.4990A>C (p.Asn1664His) c.9505A>C (p.Asn3169His) | dbSNP |
| 5 | g.13752259T= | CA1528422964 | DNAH5 | c.10903A= (p.Asn3635=) c.10858A= (p.Asn3620=) c.11011A= (p.Asn3671=) c.9916A= (p.Asn3306=) c.6100A= (p.Asn2034=) c.5653A= (p.Asn1885=) c.4990A= (p.Asn1664=) c.9505A= (p.Asn3169=) | |
| 5 | g.13752260T>A | CA359190441 | DNAH5 | c.10902A>T (p.Arg3634Ser) c.10857A>T (p.Arg3619Ser) c.11010A>T (p.Arg3670Ser) c.9915A>T (p.Arg3305Ser) c.6099A>T (p.Arg2033Ser) c.5652A>T (p.Arg1884Ser) c.4989A>T (p.Arg1663Ser) c.9504A>T (p.Arg3168Ser) | |
| 5 | g.13752260T>C | CA443248729 | DNAH5 | c.10902A>G (p.Arg3634=) c.10857A>G (p.Arg3619=) c.11010A>G (p.Arg3670=) c.9915A>G (p.Arg3305=) c.6099A>G (p.Arg2033=) c.5652A>G (p.Arg1884=) c.4989A>G (p.Arg1663=) c.9504A>G (p.Arg3168=) | |
| 5 | g.13752260T>G | CA359190443 | DNAH5 | c.10902A>C (p.Arg3634Ser) c.10857A>C (p.Arg3619Ser) c.11010A>C (p.Arg3670Ser) c.9915A>C (p.Arg3305Ser) c.6099A>C (p.Arg2033Ser) c.5652A>C (p.Arg1884Ser) c.4989A>C (p.Arg1663Ser) c.9504A>C (p.Arg3168Ser) | |
| 5 | g.13752261C>A | CA359190447 | DNAH5 | c.10901G>T (p.Arg3634Ile) c.10856G>T (p.Arg3619Ile) c.11009G>T (p.Arg3670Ile) c.9914G>T (p.Arg3305Ile) c.6098G>T (p.Arg2033Ile) c.5651G>T (p.Arg1884Ile) c.4988G>T (p.Arg1663Ile) c.9503G>T (p.Arg3168Ile) | |
| 5 | g.13752261C>G | CA359190451 | DNAH5 | c.10901G>C (p.Arg3634Thr) c.10856G>C (p.Arg3619Thr) c.11009G>C (p.Arg3670Thr) c.9914G>C (p.Arg3305Thr) c.6098G>C (p.Arg2033Thr) c.5651G>C (p.Arg1884Thr) c.4988G>C (p.Arg1663Thr) c.9503G>C (p.Arg3168Thr) | |
| 5 | g.13752261C>T | CA359190453 | DNAH5 | c.10901G>A (p.Arg3634Lys) c.10856G>A (p.Arg3619Lys) c.11009G>A (p.Arg3670Lys) c.9914G>A (p.Arg3305Lys) c.6098G>A (p.Arg2033Lys) c.5651G>A (p.Arg1884Lys) c.4988G>A (p.Arg1663Lys) c.9503G>A (p.Arg3168Lys) | gnomAD v4 |
| 5 | g.13752262T>A | CA359190456 | DNAH5 | c.10900A>T (p.Arg3634Ter) c.10855A>T (p.Arg3619Ter) c.11008A>T (p.Arg3670Ter) c.9913A>T (p.Arg3305Ter) c.6097A>T (p.Arg2033Ter) c.5650A>T (p.Arg1884Ter) c.4987A>T (p.Arg1663Ter) c.9502A>T (p.Arg3168Ter) | ClinVar |
| 5 | g.13752262T>C | CA359190459 | DNAH5 | c.10900A>G (p.Arg3634Gly) c.10855A>G (p.Arg3619Gly) c.11008A>G (p.Arg3670Gly) c.9913A>G (p.Arg3305Gly) c.6097A>G (p.Arg2033Gly) c.5650A>G (p.Arg1884Gly) c.4987A>G (p.Arg1663Gly) c.9502A>G (p.Arg3168Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13752262T>G | CA443248733 | DNAH5 | c.10900A>C (p.Arg3634=) c.10855A>C (p.Arg3619=) c.11008A>C (p.Arg3670=) c.9913A>C (p.Arg3305=) c.6097A>C (p.Arg2033=) c.5650A>C (p.Arg1884=) c.4987A>C (p.Arg1663=) c.9502A>C (p.Arg3168=) | |
| 5 | g.13752262T= | CA1528422965 | DNAH5 | c.10900A= (p.Arg3634=) c.10855A= (p.Arg3619=) c.11008A= (p.Arg3670=) c.9913A= (p.Arg3305=) c.6097A= (p.Arg2033=) c.5650A= (p.Arg1884=) c.4987A= (p.Arg1663=) c.9502A= (p.Arg3168=) | |
| 5 | g.13752263G>A | CA443248734 | DNAH5 | c.10899C>T (p.Phe3633=) c.10854C>T (p.Phe3618=) c.11007C>T (p.Phe3669=) c.9912C>T (p.Phe3304=) c.6096C>T (p.Phe2032=) c.5649C>T (p.Phe1883=) c.4986C>T (p.Phe1662=) c.9501C>T (p.Phe3167=) | |
| 5 | g.13752263G>C | CA359190461 | DNAH5 | c.10899C>G (p.Phe3633Leu) c.10854C>G (p.Phe3618Leu) c.11007C>G (p.Phe3669Leu) c.9912C>G (p.Phe3304Leu) c.6096C>G (p.Phe2032Leu) c.5649C>G (p.Phe1883Leu) c.4986C>G (p.Phe1662Leu) c.9501C>G (p.Phe3167Leu) | |
| 5 | g.13752263G>T | CA359190463 | DNAH5 | c.10899C>A (p.Phe3633Leu) c.10854C>A (p.Phe3618Leu) c.11007C>A (p.Phe3669Leu) c.9912C>A (p.Phe3304Leu) c.6096C>A (p.Phe2032Leu) c.5649C>A (p.Phe1883Leu) c.4986C>A (p.Phe1662Leu) c.9501C>A (p.Phe3167Leu) | gnomAD v4 |
| 5 | g.13752264A>C | CA359190465 | DNAH5 | c.10898T>G (p.Phe3633Cys) c.10853T>G (p.Phe3618Cys) c.11006T>G (p.Phe3669Cys) c.9911T>G (p.Phe3304Cys) c.6095T>G (p.Phe2032Cys) c.5648T>G (p.Phe1883Cys) c.4985T>G (p.Phe1662Cys) c.9500T>G (p.Phe3167Cys) | |
| 5 | g.13752264A>G | CA359190466 | DNAH5 | c.10898T>C (p.Phe3633Ser) c.10853T>C (p.Phe3618Ser) c.11006T>C (p.Phe3669Ser) c.9911T>C (p.Phe3304Ser) c.6095T>C (p.Phe2032Ser) c.5648T>C (p.Phe1883Ser) c.4985T>C (p.Phe1662Ser) c.9500T>C (p.Phe3167Ser) | |
| 5 | g.13752264A>T | CA359190468 | DNAH5 | c.10898T>A (p.Phe3633Tyr) c.10853T>A (p.Phe3618Tyr) c.11006T>A (p.Phe3669Tyr) c.9911T>A (p.Phe3304Tyr) c.6095T>A (p.Phe2032Tyr) c.5648T>A (p.Phe1883Tyr) c.4985T>A (p.Phe1662Tyr) c.9500T>A (p.Phe3167Tyr) | |
| 5 | g.13752265A= | CA1528422966 | DNAH5 | c.10897T= (p.Phe3633=) c.10852T= (p.Phe3618=) c.11005T= (p.Phe3669=) c.9910T= (p.Phe3304=) c.6094T= (p.Phe2032=) c.5647T= (p.Phe1883=) c.4984T= (p.Phe1662=) c.9499T= (p.Phe3167=) | |
| 5 | g.13752265A>C | CA359190470 | DNAH5 | c.10897T>G (p.Phe3633Val) c.10852T>G (p.Phe3618Val) c.11005T>G (p.Phe3669Val) c.9910T>G (p.Phe3304Val) c.6094T>G (p.Phe2032Val) c.5647T>G (p.Phe1883Val) c.4984T>G (p.Phe1662Val) c.9499T>G (p.Phe3167Val) | |
| 5 | g.13752265A>G | CA359190472 | DNAH5 | c.10897T>C (p.Phe3633Leu) c.10852T>C (p.Phe3618Leu) c.11005T>C (p.Phe3669Leu) c.9910T>C (p.Phe3304Leu) c.6094T>C (p.Phe2032Leu) c.5647T>C (p.Phe1883Leu) c.4984T>C (p.Phe1662Leu) c.9499T>C (p.Phe3167Leu) |