| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13752152T>A | CA359189691 | DNAH5 | c.11010A>T (p.Lys3670Asn) c.10965A>T (p.Lys3655Asn) c.11118A>T (p.Lys3706Asn) c.10023A>T (p.Lys3341Asn) c.6207A>T (p.Lys2069Asn) c.5760A>T (p.Lys1920Asn) c.5097A>T (p.Lys1699Asn) c.9612A>T (p.Lys3204Asn) | |
| 5 | g.13752152T>C | CA443248598 | DNAH5 | c.11010A>G (p.Lys3670=) c.10965A>G (p.Lys3655=) c.11118A>G (p.Lys3706=) c.10023A>G (p.Lys3341=) c.6207A>G (p.Lys2069=) c.5760A>G (p.Lys1920=) c.5097A>G (p.Lys1699=) c.9612A>G (p.Lys3204=) | |
| 5 | g.13752152T>G | CA359189693 | DNAH5 | c.11010A>C (p.Lys3670Asn) c.10965A>C (p.Lys3655Asn) c.11118A>C (p.Lys3706Asn) c.10023A>C (p.Lys3341Asn) c.6207A>C (p.Lys2069Asn) c.5760A>C (p.Lys1920Asn) c.5097A>C (p.Lys1699Asn) c.9612A>C (p.Lys3204Asn) | |
| 5 | g.13752153T>A | CA359189695 | DNAH5 | c.11009A>T (p.Lys3670Ile) c.10964A>T (p.Lys3655Ile) c.11117A>T (p.Lys3706Ile) c.10022A>T (p.Lys3341Ile) c.6206A>T (p.Lys2069Ile) c.5759A>T (p.Lys1920Ile) c.5096A>T (p.Lys1699Ile) c.9611A>T (p.Lys3204Ile) | |
| 5 | g.13752153T>C | CA359189697 | DNAH5 | c.11009A>G (p.Lys3670Arg) c.10964A>G (p.Lys3655Arg) c.11117A>G (p.Lys3706Arg) c.10022A>G (p.Lys3341Arg) c.6206A>G (p.Lys2069Arg) c.5759A>G (p.Lys1920Arg) c.5096A>G (p.Lys1699Arg) c.9611A>G (p.Lys3204Arg) | |
| 5 | g.13752153T>G | CA359189698 | DNAH5 | c.11009A>C (p.Lys3670Thr) c.10964A>C (p.Lys3655Thr) c.11117A>C (p.Lys3706Thr) c.10022A>C (p.Lys3341Thr) c.6206A>C (p.Lys2069Thr) c.5759A>C (p.Lys1920Thr) c.5096A>C (p.Lys1699Thr) c.9611A>C (p.Lys3204Thr) | |
| 5 | g.13752154T>A | CA359189700 | DNAH5 | c.11008A>T (p.Lys3670Ter) c.10963A>T (p.Lys3655Ter) c.11116A>T (p.Lys3706Ter) c.10021A>T (p.Lys3341Ter) c.6205A>T (p.Lys2069Ter) c.5758A>T (p.Lys1920Ter) c.5095A>T (p.Lys1699Ter) c.9610A>T (p.Lys3204Ter) | |
| 5 | g.13752154T>C | CA359189702 | DNAH5 | c.11008A>G (p.Lys3670Glu) c.10963A>G (p.Lys3655Glu) c.11116A>G (p.Lys3706Glu) c.10021A>G (p.Lys3341Glu) c.6205A>G (p.Lys2069Glu) c.5758A>G (p.Lys1920Glu) c.5095A>G (p.Lys1699Glu) c.9610A>G (p.Lys3204Glu) | |
| 5 | g.13752154T>G | CA359189704 | DNAH5 | c.11008A>C (p.Lys3670Gln) c.10963A>C (p.Lys3655Gln) c.11116A>C (p.Lys3706Gln) c.10021A>C (p.Lys3341Gln) c.6205A>C (p.Lys2069Gln) c.5758A>C (p.Lys1920Gln) c.5095A>C (p.Lys1699Gln) c.9610A>C (p.Lys3204Gln) | |
| 5 | g.13752155A>C | CA359189706 | DNAH5 | c.11007T>G (p.Ile3669Met) c.10962T>G (p.Ile3654Met) c.11115T>G (p.Ile3705Met) c.10020T>G (p.Ile3340Met) c.6204T>G (p.Ile2068Met) c.5757T>G (p.Ile1919Met) c.5094T>G (p.Ile1698Met) c.9609T>G (p.Ile3203Met) | |
| 5 | g.13752155A>G | CA443248601 | DNAH5 | c.11007T>C (p.Ile3669=) c.10962T>C (p.Ile3654=) c.11115T>C (p.Ile3705=) c.10020T>C (p.Ile3340=) c.6204T>C (p.Ile2068=) c.5757T>C (p.Ile1919=) c.5094T>C (p.Ile1698=) c.9609T>C (p.Ile3203=) | |
| 5 | g.13752155A>T | CA443248603 | DNAH5 | c.11007T>A (p.Ile3669=) c.10962T>A (p.Ile3654=) c.11115T>A (p.Ile3705=) c.10020T>A (p.Ile3340=) c.6204T>A (p.Ile2068=) c.5757T>A (p.Ile1919=) c.5094T>A (p.Ile1698=) c.9609T>A (p.Ile3203=) | |
| 5 | g.13752156A>C | CA359189708 | DNAH5 | c.11006T>G (p.Ile3669Ser) c.10961T>G (p.Ile3654Ser) c.11114T>G (p.Ile3705Ser) c.10019T>G (p.Ile3340Ser) c.6203T>G (p.Ile2068Ser) c.5756T>G (p.Ile1919Ser) c.5093T>G (p.Ile1698Ser) c.9608T>G (p.Ile3203Ser) | |
| 5 | g.13752156A>G | CA359189710 | DNAH5 | c.11006T>C (p.Ile3669Thr) c.10961T>C (p.Ile3654Thr) c.11114T>C (p.Ile3705Thr) c.10019T>C (p.Ile3340Thr) c.6203T>C (p.Ile2068Thr) c.5756T>C (p.Ile1919Thr) c.5093T>C (p.Ile1698Thr) c.9608T>C (p.Ile3203Thr) | |
| 5 | g.13752156A>T | CA359189712 | DNAH5 | c.11006T>A (p.Ile3669Asn) c.10961T>A (p.Ile3654Asn) c.11114T>A (p.Ile3705Asn) c.10019T>A (p.Ile3340Asn) c.6203T>A (p.Ile2068Asn) c.5756T>A (p.Ile1919Asn) c.5093T>A (p.Ile1698Asn) c.9608T>A (p.Ile3203Asn) | |
| 5 | g.13752157T>A | CA359189719 | DNAH5 | c.11005A>T (p.Ile3669Phe) c.10960A>T (p.Ile3654Phe) c.11113A>T (p.Ile3705Phe) c.10018A>T (p.Ile3340Phe) c.6202A>T (p.Ile2068Phe) c.5755A>T (p.Ile1919Phe) c.5092A>T (p.Ile1698Phe) c.9607A>T (p.Ile3203Phe) | |
| 5 | g.13752157T>C | CA359189715 | DNAH5 | c.11005A>G (p.Ile3669Val) c.10960A>G (p.Ile3654Val) c.11113A>G (p.Ile3705Val) c.10018A>G (p.Ile3340Val) c.6202A>G (p.Ile2068Val) c.5755A>G (p.Ile1919Val) c.5092A>G (p.Ile1698Val) c.9607A>G (p.Ile3203Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13752157T>G | CA359189717 | DNAH5 | c.11005A>C (p.Ile3669Leu) c.10960A>C (p.Ile3654Leu) c.11113A>C (p.Ile3705Leu) c.10018A>C (p.Ile3340Leu) c.6202A>C (p.Ile2068Leu) c.5755A>C (p.Ile1919Leu) c.5092A>C (p.Ile1698Leu) c.9607A>C (p.Ile3203Leu) | ClinVar gnomAD v4 |
| 5 | g.13752157T= | CA1528422922 | DNAH5 | c.11005A= (p.Ile3669=) c.10960A= (p.Ile3654=) c.11113A= (p.Ile3705=) c.10018A= (p.Ile3340=) c.6202A= (p.Ile2068=) c.5755A= (p.Ile1919=) c.5092A= (p.Ile1698=) c.9607A= (p.Ile3203=) | |
| 5 | g.13752158G>A | CA443248606 | DNAH5 | c.11004C>T (p.Phe3668=) c.10959C>T (p.Phe3653=) c.11112C>T (p.Phe3704=) c.10017C>T (p.Phe3339=) c.6201C>T (p.Phe2067=) c.5754C>T (p.Phe1918=) c.5091C>T (p.Phe1697=) c.9606C>T (p.Phe3202=) | COSMIC |
| 5 | g.13752158G>C | CA359189721 | DNAH5 | c.11004C>G (p.Phe3668Leu) c.10959C>G (p.Phe3653Leu) c.11112C>G (p.Phe3704Leu) c.10017C>G (p.Phe3339Leu) c.6201C>G (p.Phe2067Leu) c.5754C>G (p.Phe1918Leu) c.5091C>G (p.Phe1697Leu) c.9606C>G (p.Phe3202Leu) | |
| 5 | g.13752158G= | CA1528422923 | DNAH5 | c.11004C= (p.Phe3668=) c.10959C= (p.Phe3653=) c.11112C= (p.Phe3704=) c.10017C= (p.Phe3339=) c.6201C= (p.Phe2067=) c.5754C= (p.Phe1918=) c.5091C= (p.Phe1697=) c.9606C= (p.Phe3202=) | |
| 5 | g.13752158G>T | CA359189723 | DNAH5 | c.11004C>A (p.Phe3668Leu) c.10959C>A (p.Phe3653Leu) c.11112C>A (p.Phe3704Leu) c.10017C>A (p.Phe3339Leu) c.6201C>A (p.Phe2067Leu) c.5754C>A (p.Phe1918Leu) c.5091C>A (p.Phe1697Leu) c.9606C>A (p.Phe3202Leu) | dbSNP |
| 5 | g.13752159A= | CA1528422924 | DNAH5 | c.11003T= (p.Phe3668=) c.10958T= (p.Phe3653=) c.11111T= (p.Phe3704=) c.10016T= (p.Phe3339=) c.6200T= (p.Phe2067=) c.5753T= (p.Phe1918=) c.5090T= (p.Phe1697=) c.9605T= (p.Phe3202=) | |
| 5 | g.13752159A>C | CA359189725 | DNAH5 | c.11003T>G (p.Phe3668Cys) c.10958T>G (p.Phe3653Cys) c.11111T>G (p.Phe3704Cys) c.10016T>G (p.Phe3339Cys) c.6200T>G (p.Phe2067Cys) c.5753T>G (p.Phe1918Cys) c.5090T>G (p.Phe1697Cys) c.9605T>G (p.Phe3202Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13752159A>G | CA359189727 | DNAH5 | c.11003T>C (p.Phe3668Ser) c.10958T>C (p.Phe3653Ser) c.11111T>C (p.Phe3704Ser) c.10016T>C (p.Phe3339Ser) c.6200T>C (p.Phe2067Ser) c.5753T>C (p.Phe1918Ser) c.5090T>C (p.Phe1697Ser) c.9605T>C (p.Phe3202Ser) | |
| 5 | g.13752159A>T | CA359189730 | DNAH5 | c.11003T>A (p.Phe3668Tyr) c.10958T>A (p.Phe3653Tyr) c.11111T>A (p.Phe3704Tyr) c.10016T>A (p.Phe3339Tyr) c.6200T>A (p.Phe2067Tyr) c.5753T>A (p.Phe1918Tyr) c.5090T>A (p.Phe1697Tyr) c.9605T>A (p.Phe3202Tyr) | |
| 5 | g.13752160A>C | CA359189732 | DNAH5 | c.11002T>G (p.Phe3668Val) c.10957T>G (p.Phe3653Val) c.11110T>G (p.Phe3704Val) c.10015T>G (p.Phe3339Val) c.6199T>G (p.Phe2067Val) c.5752T>G (p.Phe1918Val) c.5089T>G (p.Phe1697Val) c.9604T>G (p.Phe3202Val) | |
| 5 | g.13752160A>G | CA359189734 | DNAH5 | c.11002T>C (p.Phe3668Leu) c.10957T>C (p.Phe3653Leu) c.11110T>C (p.Phe3704Leu) c.10015T>C (p.Phe3339Leu) c.6199T>C (p.Phe2067Leu) c.5752T>C (p.Phe1918Leu) c.5089T>C (p.Phe1697Leu) c.9604T>C (p.Phe3202Leu) | |
| 5 | g.13752160A>T | CA359189737 | DNAH5 | c.11002T>A (p.Phe3668Ile) c.10957T>A (p.Phe3653Ile) c.11110T>A (p.Phe3704Ile) c.10015T>A (p.Phe3339Ile) c.6199T>A (p.Phe2067Ile) c.5752T>A (p.Phe1918Ile) c.5089T>A (p.Phe1697Ile) c.9604T>A (p.Phe3202Ile) | |
| 5 | g.13752161G>A | CA443248610 | DNAH5 | c.11001C>T (p.Asn3667=) c.10956C>T (p.Asn3652=) c.11109C>T (p.Asn3703=) c.10014C>T (p.Asn3338=) c.6198C>T (p.Asn2066=) c.5751C>T (p.Asn1917=) c.5088C>T (p.Asn1696=) c.9603C>T (p.Asn3201=) | |
| 5 | g.13752161G>C | CA359189740 | DNAH5 | c.11001C>G (p.Asn3667Lys) c.10956C>G (p.Asn3652Lys) c.11109C>G (p.Asn3703Lys) c.10014C>G (p.Asn3338Lys) c.6198C>G (p.Asn2066Lys) c.5751C>G (p.Asn1917Lys) c.5088C>G (p.Asn1696Lys) c.9603C>G (p.Asn3201Lys) | |
| 5 | g.13752161G>T | CA359189742 | DNAH5 | c.11001C>A (p.Asn3667Lys) c.10956C>A (p.Asn3652Lys) c.11109C>A (p.Asn3703Lys) c.10014C>A (p.Asn3338Lys) c.6198C>A (p.Asn2066Lys) c.5751C>A (p.Asn1917Lys) c.5088C>A (p.Asn1696Lys) c.9603C>A (p.Asn3201Lys) | |
| 5 | g.13752162T>A | CA359189744 | DNAH5 | c.11000A>T (p.Asn3667Ile) c.10955A>T (p.Asn3652Ile) c.11108A>T (p.Asn3703Ile) c.10013A>T (p.Asn3338Ile) c.6197A>T (p.Asn2066Ile) c.5750A>T (p.Asn1917Ile) c.5087A>T (p.Asn1696Ile) c.9602A>T (p.Asn3201Ile) | |
| 5 | g.13752162T>C | CA359189746 | DNAH5 | c.11000A>G (p.Asn3667Ser) c.10955A>G (p.Asn3652Ser) c.11108A>G (p.Asn3703Ser) c.10013A>G (p.Asn3338Ser) c.6197A>G (p.Asn2066Ser) c.5750A>G (p.Asn1917Ser) c.5087A>G (p.Asn1696Ser) c.9602A>G (p.Asn3201Ser) | |
| 5 | g.13752162T>G | CA359189748 | DNAH5 | c.11000A>C (p.Asn3667Thr) c.10955A>C (p.Asn3652Thr) c.11108A>C (p.Asn3703Thr) c.10013A>C (p.Asn3338Thr) c.6197A>C (p.Asn2066Thr) c.5750A>C (p.Asn1917Thr) c.5087A>C (p.Asn1696Thr) c.9602A>C (p.Asn3201Thr) | |
| 5 | g.13752163T>A | CA359189759 | DNAH5 | c.10999A>T (p.Asn3667Tyr) c.10954A>T (p.Asn3652Tyr) c.11107A>T (p.Asn3703Tyr) c.10012A>T (p.Asn3338Tyr) c.6196A>T (p.Asn2066Tyr) c.5749A>T (p.Asn1917Tyr) c.5086A>T (p.Asn1696Tyr) c.9601A>T (p.Asn3201Tyr) | |
| 5 | g.13752163T>C | CA359189758 | DNAH5 | c.10999A>G (p.Asn3667Asp) c.10954A>G (p.Asn3652Asp) c.11107A>G (p.Asn3703Asp) c.10012A>G (p.Asn3338Asp) c.6196A>G (p.Asn2066Asp) c.5749A>G (p.Asn1917Asp) c.5086A>G (p.Asn1696Asp) c.9601A>G (p.Asn3201Asp) | |
| 5 | g.13752163T>G | CA3202085 | DNAH5 | c.10999A>C (p.Asn3667His) c.10954A>C (p.Asn3652His) c.11107A>C (p.Asn3703His) c.10012A>C (p.Asn3338His) c.6196A>C (p.Asn2066His) c.5749A>C (p.Asn1917His) c.5086A>C (p.Asn1696His) c.9601A>C (p.Asn3201His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13752163T= | CA1528422925 | DNAH5 | c.10999A= (p.Asn3667=) c.10954A= (p.Asn3652=) c.11107A= (p.Asn3703=) c.10012A= (p.Asn3338=) c.6196A= (p.Asn2066=) c.5749A= (p.Asn1917=) c.5086A= (p.Asn1696=) c.9601A= (p.Asn3201=) | |
| 5 | g.13752164T>A | CA359189762 | DNAH5 | c.10998A>T (p.Arg3666Ser) c.10953A>T (p.Arg3651Ser) c.11106A>T (p.Arg3702Ser) c.10011A>T (p.Arg3337Ser) c.6195A>T (p.Arg2065Ser) c.5748A>T (p.Arg1916Ser) c.5085A>T (p.Arg1695Ser) c.9600A>T (p.Arg3200Ser) | |
| 5 | g.13752164T>C | CA443248615 | DNAH5 | c.10998A>G (p.Arg3666=) c.10953A>G (p.Arg3651=) c.11106A>G (p.Arg3702=) c.10011A>G (p.Arg3337=) c.6195A>G (p.Arg2065=) c.5748A>G (p.Arg1916=) c.5085A>G (p.Arg1695=) c.9600A>G (p.Arg3200=) | ClinVar |
| 5 | g.13752164T>G | CA359189764 | DNAH5 | c.10998A>C (p.Arg3666Ser) c.10953A>C (p.Arg3651Ser) c.11106A>C (p.Arg3702Ser) c.10011A>C (p.Arg3337Ser) c.6195A>C (p.Arg2065Ser) c.5748A>C (p.Arg1916Ser) c.5085A>C (p.Arg1695Ser) c.9600A>C (p.Arg3200Ser) | |
| 5 | g.13752164_13752165delinsAT | CA645541002 | DNAH5 | c.10997_10998delinsAT (p.Arg3666Asn) c.10952_10953delinsAT (p.Arg3651Asn) c.11105_11106delinsAT (p.Arg3702Asn) c.10010_10011delinsAT (p.Arg3337Asn) c.6194_6195delinsAT (p.Arg2065Asn) c.5747_5748delinsAT (p.Arg1916Asn) c.5084_5085delinsAT (p.Arg1695Asn) c.9599_9600delinsAT (p.Arg3200Asn) | COSMIC |
| 5 | g.13752165C>A | CA359189766 | DNAH5 | c.10997G>T (p.Arg3666Ile) c.10952G>T (p.Arg3651Ile) c.11105G>T (p.Arg3702Ile) c.10010G>T (p.Arg3337Ile) c.6194G>T (p.Arg2065Ile) c.5747G>T (p.Arg1916Ile) c.5084G>T (p.Arg1695Ile) c.9599G>T (p.Arg3200Ile) | dbSNP gnomAD v2 COSMIC |
| 5 | g.13752165C= | CA1528422926 | DNAH5 | c.10997G= (p.Arg3666=) c.10952G= (p.Arg3651=) c.11105G= (p.Arg3702=) c.10010G= (p.Arg3337=) c.6194G= (p.Arg2065=) c.5747G= (p.Arg1916=) c.5084G= (p.Arg1695=) c.9599G= (p.Arg3200=) | |
| 5 | g.13752165C>G | CA359189768 | DNAH5 | c.10997G>C (p.Arg3666Thr) c.10952G>C (p.Arg3651Thr) c.11105G>C (p.Arg3702Thr) c.10010G>C (p.Arg3337Thr) c.6194G>C (p.Arg2065Thr) c.5747G>C (p.Arg1916Thr) c.5084G>C (p.Arg1695Thr) c.9599G>C (p.Arg3200Thr) | |
| 5 | g.13752165C>T | CA359189771 | DNAH5 | c.10997G>A (p.Arg3666Lys) c.10952G>A (p.Arg3651Lys) c.11105G>A (p.Arg3702Lys) c.10010G>A (p.Arg3337Lys) c.6194G>A (p.Arg2065Lys) c.5747G>A (p.Arg1916Lys) c.5084G>A (p.Arg1695Lys) c.9599G>A (p.Arg3200Lys) | |
| 5 | g.13752166T>A | CA359189773 | DNAH5 | c.10996A>T (p.Arg3666Ter) c.10951A>T (p.Arg3651Ter) c.11104A>T (p.Arg3702Ter) c.10009A>T (p.Arg3337Ter) c.6193A>T (p.Arg2065Ter) c.5746A>T (p.Arg1916Ter) c.5083A>T (p.Arg1695Ter) c.9598A>T (p.Arg3200Ter) | ClinVar gnomAD v4 |
| 5 | g.13752166T>C | CA359189776 | DNAH5 | c.10996A>G (p.Arg3666Gly) c.10951A>G (p.Arg3651Gly) c.11104A>G (p.Arg3702Gly) c.10009A>G (p.Arg3337Gly) c.6193A>G (p.Arg2065Gly) c.5746A>G (p.Arg1916Gly) c.5083A>G (p.Arg1695Gly) c.9598A>G (p.Arg3200Gly) |