| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13770752T>A | CA359204095 | DNAH5 | c.9602A>T (p.Asn3201Ile) c.9557A>T (p.Asn3186Ile) n.314A>T c.9710A>T (p.Asn3237Ile) c.8615A>T (p.Asn2872Ile) c.4799A>T (p.Asn1600Ile) c.4352A>T (p.Asn1451Ile) c.3689A>T (p.Asn1230Ile) c.8204A>T (p.Asn2735Ile) | |
| 5 | g.13770752T>C | CA359204096 | DNAH5 | c.9602A>G (p.Asn3201Ser) c.9557A>G (p.Asn3186Ser) n.314A>G c.9710A>G (p.Asn3237Ser) c.8615A>G (p.Asn2872Ser) c.4799A>G (p.Asn1600Ser) c.4352A>G (p.Asn1451Ser) c.3689A>G (p.Asn1230Ser) c.8204A>G (p.Asn2735Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13770752T>G | CA359204097 | DNAH5 | c.9602A>C (p.Asn3201Thr) c.9557A>C (p.Asn3186Thr) n.314A>C c.9710A>C (p.Asn3237Thr) c.8615A>C (p.Asn2872Thr) c.4799A>C (p.Asn1600Thr) c.4352A>C (p.Asn1451Thr) c.3689A>C (p.Asn1230Thr) c.8204A>C (p.Asn2735Thr) | |
| 5 | g.13770752T= | CA1528431169 | DNAH5 | c.9602A= (p.Asn3201=) c.9557A= (p.Asn3186=) n.314A= c.9710A= (p.Asn3237=) c.8615A= (p.Asn2872=) c.4799A= (p.Asn1600=) c.4352A= (p.Asn1451=) c.3689A= (p.Asn1230=) c.8204A= (p.Asn2735=) | |
| 5 | g.13770753T>A | CA359204099 | DNAH5 | c.9601A>T (p.Asn3201Tyr) c.9556A>T (p.Asn3186Tyr) n.313A>T c.9709A>T (p.Asn3237Tyr) c.8614A>T (p.Asn2872Tyr) c.4798A>T (p.Asn1600Tyr) c.4351A>T (p.Asn1451Tyr) c.3688A>T (p.Asn1230Tyr) c.8203A>T (p.Asn2735Tyr) | |
| 5 | g.13770753T>C | CA359204101 | DNAH5 | c.9601A>G (p.Asn3201Asp) c.9556A>G (p.Asn3186Asp) n.313A>G c.9709A>G (p.Asn3237Asp) c.8614A>G (p.Asn2872Asp) c.4798A>G (p.Asn1600Asp) c.4351A>G (p.Asn1451Asp) c.3688A>G (p.Asn1230Asp) c.8203A>G (p.Asn2735Asp) | gnomAD v4 |
| 5 | g.13770753T>G | CA359204104 | DNAH5 | c.9601A>C (p.Asn3201His) c.9556A>C (p.Asn3186His) n.313A>C c.9709A>C (p.Asn3237His) c.8614A>C (p.Asn2872His) c.4798A>C (p.Asn1600His) c.4351A>C (p.Asn1451His) c.3688A>C (p.Asn1230His) c.8203A>C (p.Asn2735His) | |
| 5 | g.13770754G>A | CA443535476 | DNAH5 | c.9600C>T (p.Ala3200=) c.9555C>T (p.Ala3185=) n.312C>T c.9708C>T (p.Ala3236=) c.8613C>T (p.Ala2871=) c.4797C>T (p.Ala1599=) c.4350C>T (p.Ala1450=) c.3687C>T (p.Ala1229=) c.8202C>T (p.Ala2734=) | |
| 5 | g.13770754G>C | CA443535477 | DNAH5 | c.9600C>G (p.Ala3200=) c.9555C>G (p.Ala3185=) n.312C>G c.9708C>G (p.Ala3236=) c.8613C>G (p.Ala2871=) c.4797C>G (p.Ala1599=) c.4350C>G (p.Ala1450=) c.3687C>G (p.Ala1229=) c.8202C>G (p.Ala2734=) | |
| 5 | g.13770754G>T | CA443535478 | DNAH5 | c.9600C>A (p.Ala3200=) c.9555C>A (p.Ala3185=) n.312C>A c.9708C>A (p.Ala3236=) c.8613C>A (p.Ala2871=) c.4797C>A (p.Ala1599=) c.4350C>A (p.Ala1450=) c.3687C>A (p.Ala1229=) c.8202C>A (p.Ala2734=) | |
| 5 | g.13770755G>A | CA359204106 | DNAH5 | c.9599C>T (p.Ala3200Val) c.9554C>T (p.Ala3185Val) n.311C>T c.9707C>T (p.Ala3236Val) c.8612C>T (p.Ala2871Val) c.4796C>T (p.Ala1599Val) c.4349C>T (p.Ala1450Val) c.3686C>T (p.Ala1229Val) c.8201C>T (p.Ala2734Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13770755G>C | CA359204108 | DNAH5 | c.9599C>G (p.Ala3200Gly) c.9554C>G (p.Ala3185Gly) n.311C>G c.9707C>G (p.Ala3236Gly) c.8612C>G (p.Ala2871Gly) c.4796C>G (p.Ala1599Gly) c.4349C>G (p.Ala1450Gly) c.3686C>G (p.Ala1229Gly) c.8201C>G (p.Ala2734Gly) | |
| 5 | g.13770755G= | CA1528431170 | DNAH5 | c.9599C= (p.Ala3200=) c.9554C= (p.Ala3185=) n.311C= c.9707C= (p.Ala3236=) c.8612C= (p.Ala2871=) c.4796C= (p.Ala1599=) c.4349C= (p.Ala1450=) c.3686C= (p.Ala1229=) c.8201C= (p.Ala2734=) | |
| 5 | g.13770755G>T | CA359204111 | DNAH5 | c.9599C>A (p.Ala3200Asp) c.9554C>A (p.Ala3185Asp) n.311C>A c.9707C>A (p.Ala3236Asp) c.8612C>A (p.Ala2871Asp) c.4796C>A (p.Ala1599Asp) c.4349C>A (p.Ala1450Asp) c.3686C>A (p.Ala1229Asp) c.8201C>A (p.Ala2734Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13770756C>A | CA359204119 | DNAH5 | c.9598G>T (p.Ala3200Ser) c.9553G>T (p.Ala3185Ser) n.310G>T c.9706G>T (p.Ala3236Ser) c.8611G>T (p.Ala2871Ser) c.4795G>T (p.Ala1599Ser) c.4348G>T (p.Ala1450Ser) c.3685G>T (p.Ala1229Ser) c.8200G>T (p.Ala2734Ser) | |
| 5 | g.13770756C>G | CA359204117 | DNAH5 | c.9598G>C (p.Ala3200Pro) c.9553G>C (p.Ala3185Pro) n.310G>C c.9706G>C (p.Ala3236Pro) c.8611G>C (p.Ala2871Pro) c.4795G>C (p.Ala1599Pro) c.4348G>C (p.Ala1450Pro) c.3685G>C (p.Ala1229Pro) c.8200G>C (p.Ala2734Pro) | |
| 5 | g.13770756C>T | CA359204115 | DNAH5 | c.9598G>A (p.Ala3200Thr) c.9553G>A (p.Ala3185Thr) n.310G>A c.9706G>A (p.Ala3236Thr) c.8611G>A (p.Ala2871Thr) c.4795G>A (p.Ala1599Thr) c.4348G>A (p.Ala1450Thr) c.3685G>A (p.Ala1229Thr) c.8200G>A (p.Ala2734Thr) | |
| 5 | g.13770757C>A | CA443535480 | DNAH5 | c.9597G>T (p.Leu3199=) c.9552G>T (p.Leu3184=) n.309G>T c.9705G>T (p.Leu3235=) c.8610G>T (p.Leu2870=) c.4794G>T (p.Leu1598=) c.4347G>T (p.Leu1449=) c.3684G>T (p.Leu1228=) c.8199G>T (p.Leu2733=) | |
| 5 | g.13770757C>G | CA443535481 | DNAH5 | c.9597G>C (p.Leu3199=) c.9552G>C (p.Leu3184=) n.309G>C c.9705G>C (p.Leu3235=) c.8610G>C (p.Leu2870=) c.4794G>C (p.Leu1598=) c.4347G>C (p.Leu1449=) c.3684G>C (p.Leu1228=) c.8199G>C (p.Leu2733=) | |
| 5 | g.13770757C>T | CA443535482 | DNAH5 | c.9597G>A (p.Leu3199=) c.9552G>A (p.Leu3184=) n.309G>A c.9705G>A (p.Leu3235=) c.8610G>A (p.Leu2870=) c.4794G>A (p.Leu1598=) c.4347G>A (p.Leu1449=) c.3684G>A (p.Leu1228=) c.8199G>A (p.Leu2733=) | gnomAD v4 |
| 5 | g.13770758A>C | CA359204122 | DNAH5 | c.9596T>G (p.Leu3199Arg) c.9551T>G (p.Leu3184Arg) n.308T>G c.9704T>G (p.Leu3235Arg) c.8609T>G (p.Leu2870Arg) c.4793T>G (p.Leu1598Arg) c.4346T>G (p.Leu1449Arg) c.3683T>G (p.Leu1228Arg) c.8198T>G (p.Leu2733Arg) | |
| 5 | g.13770758A>G | CA359204124 | DNAH5 | c.9596T>C (p.Leu3199Pro) c.9551T>C (p.Leu3184Pro) n.308T>C c.9704T>C (p.Leu3235Pro) c.8609T>C (p.Leu2870Pro) c.4793T>C (p.Leu1598Pro) c.4346T>C (p.Leu1449Pro) c.3683T>C (p.Leu1228Pro) c.8198T>C (p.Leu2733Pro) | gnomAD v4 |
| 5 | g.13770758A>T | CA359204126 | DNAH5 | c.9596T>A (p.Leu3199Gln) c.9551T>A (p.Leu3184Gln) n.308T>A c.9704T>A (p.Leu3235Gln) c.8609T>A (p.Leu2870Gln) c.4793T>A (p.Leu1598Gln) c.4346T>A (p.Leu1449Gln) c.3683T>A (p.Leu1228Gln) c.8198T>A (p.Leu2733Gln) | |
| 5 | g.13770759G>A | CA443535486 | DNAH5 | c.9595C>T (p.Leu3199=) c.9550C>T (p.Leu3184=) n.307C>T c.9703C>T (p.Leu3235=) c.8608C>T (p.Leu2870=) c.4792C>T (p.Leu1598=) c.4345C>T (p.Leu1449=) c.3682C>T (p.Leu1228=) c.8197C>T (p.Leu2733=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13770759G>C | CA359204127 | DNAH5 | c.9595C>G (p.Leu3199Val) c.9550C>G (p.Leu3184Val) n.307C>G c.9703C>G (p.Leu3235Val) c.8608C>G (p.Leu2870Val) c.4792C>G (p.Leu1598Val) c.4345C>G (p.Leu1449Val) c.3682C>G (p.Leu1228Val) c.8197C>G (p.Leu2733Val) | |
| 5 | g.13770759G= | CA1528431171 | DNAH5 | c.9595C= (p.Leu3199=) c.9550C= (p.Leu3184=) n.307C= c.9703C= (p.Leu3235=) c.8608C= (p.Leu2870=) c.4792C= (p.Leu1598=) c.4345C= (p.Leu1449=) c.3682C= (p.Leu1228=) c.8197C= (p.Leu2733=) | |
| 5 | g.13770759G>T | CA359204128 | DNAH5 | c.9595C>A (p.Leu3199Met) c.9550C>A (p.Leu3184Met) n.307C>A c.9703C>A (p.Leu3235Met) c.8608C>A (p.Leu2870Met) c.4792C>A (p.Leu1598Met) c.4345C>A (p.Leu1449Met) c.3682C>A (p.Leu1228Met) c.8197C>A (p.Leu2733Met) | |
| 5 | g.13770760G>A | CA443535487 | DNAH5 | c.9594C>T (p.Thr3198=) c.9549C>T (p.Thr3183=) n.306C>T c.9702C>T (p.Thr3234=) c.8607C>T (p.Thr2869=) c.4791C>T (p.Thr1597=) c.4344C>T (p.Thr1448=) c.3681C>T (p.Thr1227=) c.8196C>T (p.Thr2732=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13770760G>C | CA443535488 | DNAH5 | c.9594C>G (p.Thr3198=) c.9549C>G (p.Thr3183=) n.306C>G c.9702C>G (p.Thr3234=) c.8607C>G (p.Thr2869=) c.4791C>G (p.Thr1597=) c.4344C>G (p.Thr1448=) c.3681C>G (p.Thr1227=) c.8196C>G (p.Thr2732=) | |
| 5 | g.13770760G= | CA1528431172 | DNAH5 | c.9594C= (p.Thr3198=) c.9549C= (p.Thr3183=) n.306C= c.9702C= (p.Thr3234=) c.8607C= (p.Thr2869=) c.4791C= (p.Thr1597=) c.4344C= (p.Thr1448=) c.3681C= (p.Thr1227=) c.8196C= (p.Thr2732=) | |
| 5 | g.13770760G>T | CA443535489 | DNAH5 | c.9594C>A (p.Thr3198=) c.9549C>A (p.Thr3183=) n.306C>A c.9702C>A (p.Thr3234=) c.8607C>A (p.Thr2869=) c.4791C>A (p.Thr1597=) c.4344C>A (p.Thr1448=) c.3681C>A (p.Thr1227=) c.8196C>A (p.Thr2732=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13770761G>A | CA359204129 | DNAH5 | c.9593C>T (p.Thr3198Ile) c.9548C>T (p.Thr3183Ile) n.305C>T c.9701C>T (p.Thr3234Ile) c.8606C>T (p.Thr2869Ile) c.4790C>T (p.Thr1597Ile) c.4343C>T (p.Thr1448Ile) c.3680C>T (p.Thr1227Ile) c.8195C>T (p.Thr2732Ile) | |
| 5 | g.13770761G>C | CA359204131 | DNAH5 | c.9593C>G (p.Thr3198Ser) c.9548C>G (p.Thr3183Ser) n.305C>G c.9701C>G (p.Thr3234Ser) c.8606C>G (p.Thr2869Ser) c.4790C>G (p.Thr1597Ser) c.4343C>G (p.Thr1448Ser) c.3680C>G (p.Thr1227Ser) c.8195C>G (p.Thr2732Ser) | |
| 5 | g.13770761G>T | CA359204132 | DNAH5 | c.9593C>A (p.Thr3198Asn) c.9548C>A (p.Thr3183Asn) n.305C>A c.9701C>A (p.Thr3234Asn) c.8606C>A (p.Thr2869Asn) c.4790C>A (p.Thr1597Asn) c.4343C>A (p.Thr1448Asn) c.3680C>A (p.Thr1227Asn) c.8195C>A (p.Thr2732Asn) | |
| 5 | g.13770762T>A | CA359204134 | DNAH5 | c.9592A>T (p.Thr3198Ser) c.9547A>T (p.Thr3183Ser) n.304A>T c.9700A>T (p.Thr3234Ser) c.8605A>T (p.Thr2869Ser) c.4789A>T (p.Thr1597Ser) c.4342A>T (p.Thr1448Ser) c.3679A>T (p.Thr1227Ser) c.8194A>T (p.Thr2732Ser) | |
| 5 | g.13770762T>C | CA359204136 | DNAH5 | c.9592A>G (p.Thr3198Ala) c.9547A>G (p.Thr3183Ala) n.304A>G c.9700A>G (p.Thr3234Ala) c.8605A>G (p.Thr2869Ala) c.4789A>G (p.Thr1597Ala) c.4342A>G (p.Thr1448Ala) c.3679A>G (p.Thr1227Ala) c.8194A>G (p.Thr2732Ala) | |
| 5 | g.13770762T>G | CA359204137 | DNAH5 | c.9592A>C (p.Thr3198Pro) c.9547A>C (p.Thr3183Pro) n.304A>C c.9700A>C (p.Thr3234Pro) c.8605A>C (p.Thr2869Pro) c.4789A>C (p.Thr1597Pro) c.4342A>C (p.Thr1448Pro) c.3679A>C (p.Thr1227Pro) c.8194A>C (p.Thr2732Pro) | |
| 5 | g.13770763C>A | CA443535490 | DNAH5 | c.9591G>T (p.Arg3197=) c.9546G>T (p.Arg3182=) n.303G>T c.9699G>T (p.Arg3233=) c.8604G>T (p.Arg2868=) c.4788G>T (p.Arg1596=) c.4341G>T (p.Arg1447=) c.3678G>T (p.Arg1226=) c.8193G>T (p.Arg2731=) | COSMIC |
| 5 | g.13770763C>G | CA443535491 | DNAH5 | c.9591G>C (p.Arg3197=) c.9546G>C (p.Arg3182=) n.303G>C c.9699G>C (p.Arg3233=) c.8604G>C (p.Arg2868=) c.4788G>C (p.Arg1596=) c.4341G>C (p.Arg1447=) c.3678G>C (p.Arg1226=) c.8193G>C (p.Arg2731=) | gnomAD v4 |
| 5 | g.13770763C>T | CA443535492 | DNAH5 | c.9591G>A (p.Arg3197=) c.9546G>A (p.Arg3182=) n.303G>A c.9699G>A (p.Arg3233=) c.8604G>A (p.Arg2868=) c.4788G>A (p.Arg1596=) c.4341G>A (p.Arg1447=) c.3678G>A (p.Arg1226=) c.8193G>A (p.Arg2731=) | COSMIC |
| 5 | g.13770764C>A | CA359204140 | DNAH5 | c.9590G>T (p.Arg3197Leu) c.9545G>T (p.Arg3182Leu) n.302G>T c.9698G>T (p.Arg3233Leu) c.8603G>T (p.Arg2868Leu) c.4787G>T (p.Arg1596Leu) c.4340G>T (p.Arg1447Leu) c.3677G>T (p.Arg1226Leu) c.8192G>T (p.Arg2731Leu) | |
| 5 | g.13770764C= | CA1528431173 | DNAH5 | c.9590G= (p.Arg3197=) c.9545G= (p.Arg3182=) n.302G= c.9698G= (p.Arg3233=) c.8603G= (p.Arg2868=) c.4787G= (p.Arg1596=) c.4340G= (p.Arg1447=) c.3677G= (p.Arg1226=) c.8192G= (p.Arg2731=) | |
| 5 | g.13770764C>G | CA359204141 | DNAH5 | c.9590G>C (p.Arg3197Pro) c.9545G>C (p.Arg3182Pro) n.302G>C c.9698G>C (p.Arg3233Pro) c.8603G>C (p.Arg2868Pro) c.4787G>C (p.Arg1596Pro) c.4340G>C (p.Arg1447Pro) c.3677G>C (p.Arg1226Pro) c.8192G>C (p.Arg2731Pro) | |
| 5 | g.13770764C>T | CA3202507 | DNAH5 | c.9590G>A (p.Arg3197Gln) c.9545G>A (p.Arg3182Gln) n.302G>A c.9698G>A (p.Arg3233Gln) c.8603G>A (p.Arg2868Gln) c.4787G>A (p.Arg1596Gln) c.4340G>A (p.Arg1447Gln) c.3677G>A (p.Arg1226Gln) c.8192G>A (p.Arg2731Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13770765G>A | CA3202508 | DNAH5 | c.9589C>T (p.Arg3197Trp) c.9544C>T (p.Arg3182Trp) n.301C>T c.9697C>T (p.Arg3233Trp) c.8602C>T (p.Arg2868Trp) c.4786C>T (p.Arg1596Trp) c.4339C>T (p.Arg1447Trp) c.3676C>T (p.Arg1226Trp) c.8191C>T (p.Arg2731Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13770765G>C | CA359204143 | DNAH5 | c.9589C>G (p.Arg3197Gly) c.9544C>G (p.Arg3182Gly) n.301C>G c.9697C>G (p.Arg3233Gly) c.8602C>G (p.Arg2868Gly) c.4786C>G (p.Arg1596Gly) c.4339C>G (p.Arg1447Gly) c.3676C>G (p.Arg1226Gly) c.8191C>G (p.Arg2731Gly) | |
| 5 | g.13770765G= | CA1528431174 | DNAH5 | c.9589C= (p.Arg3197=) c.9544C= (p.Arg3182=) n.301C= c.9697C= (p.Arg3233=) c.8602C= (p.Arg2868=) c.4786C= (p.Arg1596=) c.4339C= (p.Arg1447=) c.3676C= (p.Arg1226=) c.8191C= (p.Arg2731=) | |
| 5 | g.13770765G>T | CA443535496 | DNAH5 | c.9589C>A (p.Arg3197=) c.9544C>A (p.Arg3182=) n.301C>A c.9697C>A (p.Arg3233=) c.8602C>A (p.Arg2868=) c.4786C>A (p.Arg1596=) c.4339C>A (p.Arg1447=) c.3676C>A (p.Arg1226=) c.8191C>A (p.Arg2731=) | |
| 5 | g.13770766C>A | CA443535499 | DNAH5 | c.9588G>T (p.Val3196=) c.9543G>T (p.Val3181=) n.300G>T c.9696G>T (p.Val3232=) c.8601G>T (p.Val2867=) c.4785G>T (p.Val1595=) c.4338G>T (p.Val1446=) c.3675G>T (p.Val1225=) c.8190G>T (p.Val2730=) | |
| 5 | g.13770766C>G | CA443535497 | DNAH5 | c.9588G>C (p.Val3196=) c.9543G>C (p.Val3181=) n.300G>C c.9696G>C (p.Val3232=) c.8601G>C (p.Val2867=) c.4785G>C (p.Val1595=) c.4338G>C (p.Val1446=) c.3675G>C (p.Val1225=) c.8190G>C (p.Val2730=) |