Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13770745_13770748dup | CA2578270044 | DNAH5 | c.9605+3_9605+6dup (n.9605+3_9605+6dup) c.9560+3_9560+6dup (n.9560+3_9560+6dup) n.317+3_317+6dup c.9713+3_9713+6dup (n.9713+3_9713+6dup) c.8618+3_8618+6dup (n.8618+3_8618+6dup) c.9716_*2dup (n.9716_*2dup) c.4802+3_4802+6dup (n.4802+3_4802+6dup) c.4355+3_4355+6dup (n.4355+3_4355+6dup) c.3692+3_3692+6dup (n.3692+3_3692+6dup) c.8207+3_8207+6dup (n.8207+3_8207+6dup) | |
5 | g.13770748C>A | CA359204081 | DNAH5 | c.9605+1G>T (n.9605+1G>T) c.9560+1G>T (n.9560+1G>T) n.317+1G>T c.9713+1G>T (n.9713+1G>T) c.8618+1G>T (n.8618+1G>T) c.9714G>T (p.Arg3238Ser) c.4802+1G>T (n.4802+1G>T) c.4355+1G>T (n.4355+1G>T) c.3692+1G>T (n.3692+1G>T) c.8207+1G>T (n.8207+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770748C= | CA1528431167 | DNAH5 | c.9605+1G= (n.9605+1G=) c.9560+1G= (n.9560+1G=) n.317+1G= c.9713+1G= (n.9713+1G=) c.8618+1G= (n.8618+1G=) c.9714G= (p.Arg3238=) c.4802+1G= (n.4802+1G=) c.4355+1G= (n.4355+1G=) c.3692+1G= (n.3692+1G=) c.8207+1G= (n.8207+1G=) | |
5 | g.13770748C>G | CA359204082 | DNAH5 | c.9605+1G>C (n.9605+1G>C) c.9560+1G>C (n.9560+1G>C) n.317+1G>C c.9713+1G>C (n.9713+1G>C) c.8618+1G>C (n.8618+1G>C) c.9714G>C (p.Arg3238Ser) c.4802+1G>C (n.4802+1G>C) c.4355+1G>C (n.4355+1G>C) c.3692+1G>C (n.3692+1G>C) c.8207+1G>C (n.8207+1G>C) | |
5 | g.13770748C>T | CA359204085 | DNAH5 | c.9605+1G>A (n.9605+1G>A) c.9560+1G>A (n.9560+1G>A) n.317+1G>A c.9713+1G>A (n.9713+1G>A) c.8618+1G>A (n.8618+1G>A) c.9714G>A (p.Arg3238=) c.4802+1G>A (n.4802+1G>A) c.4355+1G>A (n.4355+1G>A) c.3692+1G>A (n.3692+1G>A) c.8207+1G>A (n.8207+1G>A) | |
5 | g.13770749del | CA2580072354 | DNAH5 | c.9605+1del c.9560+1del n.317+1del c.9713+1del c.8618+1del c.9714del (p.Arg3238SerfsTer?) c.4802+1del c.4355+1del c.3692+1del c.8207+1del | ClinVar |
5 | g.13770749C>A | CA359204086 | DNAH5 | c.9605G>T (p.Arg3202Ile) c.9560G>T (p.Arg3187Ile) n.317G>T c.9713G>T (p.Arg3238Ile) c.8618G>T (p.Arg2873Ile) c.9713G>T (p.Arg3238Met) c.4802G>T (p.Arg1601Ile) c.4355G>T (p.Arg1452Ile) c.3692G>T (p.Arg1231Ile) c.8207G>T (p.Arg2736Ile) | |
5 | g.13770749C>G | CA359204087 | DNAH5 | c.9605G>C (p.Arg3202Thr) c.9560G>C (p.Arg3187Thr) n.317G>C c.9713G>C (p.Arg3238Thr) c.8618G>C (p.Arg2873Thr) c.4802G>C (p.Arg1601Thr) c.4355G>C (p.Arg1452Thr) c.3692G>C (p.Arg1231Thr) c.8207G>C (p.Arg2736Thr) | |
5 | g.13770749C>T | CA359204088 | DNAH5 | c.9605G>A (p.Arg3202Lys) c.9560G>A (p.Arg3187Lys) n.317G>A c.9713G>A (p.Arg3238Lys) c.8618G>A (p.Arg2873Lys) c.4802G>A (p.Arg1601Lys) c.4355G>A (p.Arg1452Lys) c.3692G>A (p.Arg1231Lys) c.8207G>A (p.Arg2736Lys) | |
5 | g.13770750T>A | CA359204090 | DNAH5 | c.9604A>T (p.Arg3202Ter) c.9559A>T (p.Arg3187Ter) n.316A>T c.9712A>T (p.Arg3238Ter) c.8617A>T (p.Arg2873Ter) c.9712A>T (p.Arg3238Trp) c.4801A>T (p.Arg1601Ter) c.4354A>T (p.Arg1452Ter) c.3691A>T (p.Arg1231Ter) c.8206A>T (p.Arg2736Ter) | |
5 | g.13770750T>C | CA359204091 | DNAH5 | c.9604A>G (p.Arg3202Gly) c.9559A>G (p.Arg3187Gly) n.316A>G c.9712A>G (p.Arg3238Gly) c.8617A>G (p.Arg2873Gly) c.4801A>G (p.Arg1601Gly) c.4354A>G (p.Arg1452Gly) c.3691A>G (p.Arg1231Gly) c.8206A>G (p.Arg2736Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770750T>G | CA443535472 | DNAH5 | c.9604A>C (p.Arg3202=) c.9559A>C (p.Arg3187=) n.316A>C c.9712A>C (p.Arg3238=) c.8617A>C (p.Arg2873=) c.4801A>C (p.Arg1601=) c.4354A>C (p.Arg1452=) c.3691A>C (p.Arg1231=) c.8206A>C (p.Arg2736=) | gnomAD v4 |
5 | g.13770750T= | CA1528431168 | DNAH5 | c.9604A= (p.Arg3202=) c.9559A= (p.Arg3187=) n.316A= c.9712A= (p.Arg3238=) c.8617A= (p.Arg2873=) c.4801A= (p.Arg1601=) c.4354A= (p.Arg1452=) c.3691A= (p.Arg1231=) c.8206A= (p.Arg2736=) | |
5 | g.13770751G>A | CA443535473 | DNAH5 | c.9603C>T (p.Asn3201=) c.9558C>T (p.Asn3186=) n.315C>T c.9711C>T (p.Asn3237=) c.8616C>T (p.Asn2872=) c.4800C>T (p.Asn1600=) c.4353C>T (p.Asn1451=) c.3690C>T (p.Asn1230=) c.8205C>T (p.Asn2735=) | |
5 | g.13770751G>C | CA359204093 | DNAH5 | c.9603C>G (p.Asn3201Lys) c.9558C>G (p.Asn3186Lys) n.315C>G c.9711C>G (p.Asn3237Lys) c.8616C>G (p.Asn2872Lys) c.4800C>G (p.Asn1600Lys) c.4353C>G (p.Asn1451Lys) c.3690C>G (p.Asn1230Lys) c.8205C>G (p.Asn2735Lys) | |
5 | g.13770751G>T | CA359204094 | DNAH5 | c.9603C>A (p.Asn3201Lys) c.9558C>A (p.Asn3186Lys) n.315C>A c.9711C>A (p.Asn3237Lys) c.8616C>A (p.Asn2872Lys) c.4800C>A (p.Asn1600Lys) c.4353C>A (p.Asn1451Lys) c.3690C>A (p.Asn1230Lys) c.8205C>A (p.Asn2735Lys) | |
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=) | |
5 | g.13770766C>T | CA443535498 | DNAH5 | c.9588G>A (p.Val3196=) c.9543G>A (p.Val3181=) n.300G>A c.9696G>A (p.Val3232=) c.8601G>A (p.Val2867=) c.4785G>A (p.Val1595=) c.4338G>A (p.Val1446=) c.3675G>A (p.Val1225=) c.8190G>A (p.Val2730=) | ClinVar |
5 | g.13770767del | CA2673270114 | DNAH5 | c.9587del (p.Val3196GlyfsTer8) c.9542del (p.Val3181GlyfsTer8) n.299del c.9695del (p.Val3232GlyfsTer8) c.8600del (p.Val2867GlyfsTer8) c.9695del (p.Val3232GlyfsTer?) c.4784del (p.Val1595GlyfsTer8) c.4337del (p.Val1446GlyfsTer8) c.3674del (p.Val1225GlyfsTer8) c.8189del (p.Val2730GlyfsTer8) | gnomAD v4 |
5 | g.13770767A>C | CA359204144 | DNAH5 | c.9587T>G (p.Val3196Gly) c.9542T>G (p.Val3181Gly) n.299T>G c.9695T>G (p.Val3232Gly) c.8600T>G (p.Val2867Gly) c.4784T>G (p.Val1595Gly) c.4337T>G (p.Val1446Gly) c.3674T>G (p.Val1225Gly) c.8189T>G (p.Val2730Gly) | |
5 | g.13770767A>G | CA359204145 | DNAH5 | c.9587T>C (p.Val3196Ala) c.9542T>C (p.Val3181Ala) n.299T>C c.9695T>C (p.Val3232Ala) c.8600T>C (p.Val2867Ala) c.4784T>C (p.Val1595Ala) c.4337T>C (p.Val1446Ala) c.3674T>C (p.Val1225Ala) c.8189T>C (p.Val2730Ala) | gnomAD v4 |
5 | g.13770767A>T | CA359204147 | DNAH5 | c.9587T>A (p.Val3196Glu) c.9542T>A (p.Val3181Glu) n.299T>A c.9695T>A (p.Val3232Glu) c.8600T>A (p.Val2867Glu) c.4784T>A (p.Val1595Glu) c.4337T>A (p.Val1446Glu) c.3674T>A (p.Val1225Glu) c.8189T>A (p.Val2730Glu) | |
5 | g.13770768C>A | CA359204149 | DNAH5 | c.9586G>T (p.Val3196Leu) c.9541G>T (p.Val3181Leu) n.298G>T c.9694G>T (p.Val3232Leu) c.8599G>T (p.Val2867Leu) c.4783G>T (p.Val1595Leu) c.4336G>T (p.Val1446Leu) c.3673G>T (p.Val1225Leu) c.8188G>T (p.Val2730Leu) | |
5 | g.13770768C= | CA1528431175 | DNAH5 | c.9586G= (p.Val3196=) c.9541G= (p.Val3181=) n.298G= c.9694G= (p.Val3232=) c.8599G= (p.Val2867=) c.4783G= (p.Val1595=) c.4336G= (p.Val1446=) c.3673G= (p.Val1225=) c.8188G= (p.Val2730=) | |
5 | g.13770768C>G | CA359204153 | DNAH5 | c.9586G>C (p.Val3196Leu) c.9541G>C (p.Val3181Leu) n.298G>C c.9694G>C (p.Val3232Leu) c.8599G>C (p.Val2867Leu) c.4783G>C (p.Val1595Leu) c.4336G>C (p.Val1446Leu) c.3673G>C (p.Val1225Leu) c.8188G>C (p.Val2730Leu) | |
5 | g.13770768C>T | CA3202509 | DNAH5 | c.9586G>A (p.Val3196Met) c.9541G>A (p.Val3181Met) n.298G>A c.9694G>A (p.Val3232Met) c.8599G>A (p.Val2867Met) c.4783G>A (p.Val1595Met) c.4336G>A (p.Val1446Met) c.3673G>A (p.Val1225Met) c.8188G>A (p.Val2730Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770769C>A | CA359204158 | DNAH5 | c.9585G>T (p.Glu3195Asp) c.9540G>T (p.Glu3180Asp) n.297G>T c.9693G>T (p.Glu3231Asp) c.8598G>T (p.Glu2866Asp) c.4782G>T (p.Glu1594Asp) c.4335G>T (p.Glu1445Asp) c.3672G>T (p.Glu1224Asp) c.8187G>T (p.Glu2729Asp) | |
5 | g.13770769C>G | CA359204161 | DNAH5 | c.9585G>C (p.Glu3195Asp) c.9540G>C (p.Glu3180Asp) n.297G>C c.9693G>C (p.Glu3231Asp) c.8598G>C (p.Glu2866Asp) c.4782G>C (p.Glu1594Asp) c.4335G>C (p.Glu1445Asp) c.3672G>C (p.Glu1224Asp) c.8187G>C (p.Glu2729Asp) | gnomAD v4 |
5 | g.13770769C>T | CA443535503 | DNAH5 | c.9585G>A (p.Glu3195=) c.9540G>A (p.Glu3180=) n.297G>A c.9693G>A (p.Glu3231=) c.8598G>A (p.Glu2866=) c.4782G>A (p.Glu1594=) c.4335G>A (p.Glu1445=) c.3672G>A (p.Glu1224=) c.8187G>A (p.Glu2729=) | |
5 | g.13770770T>A | CA359204167 | DNAH5 | c.9584A>T (p.Glu3195Val) c.9539A>T (p.Glu3180Val) n.296A>T c.9692A>T (p.Glu3231Val) c.8597A>T (p.Glu2866Val) c.4781A>T (p.Glu1594Val) c.4334A>T (p.Glu1445Val) c.3671A>T (p.Glu1224Val) c.8186A>T (p.Glu2729Val) | |
5 | g.13770770T>C | CA359204169 | DNAH5 | c.9584A>G (p.Glu3195Gly) c.9539A>G (p.Glu3180Gly) n.296A>G c.9692A>G (p.Glu3231Gly) c.8597A>G (p.Glu2866Gly) c.4781A>G (p.Glu1594Gly) c.4334A>G (p.Glu1445Gly) c.3671A>G (p.Glu1224Gly) c.8186A>G (p.Glu2729Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770770T>G | CA359204171 | DNAH5 | c.9584A>C (p.Glu3195Ala) c.9539A>C (p.Glu3180Ala) n.296A>C c.9692A>C (p.Glu3231Ala) c.8597A>C (p.Glu2866Ala) c.4781A>C (p.Glu1594Ala) c.4334A>C (p.Glu1445Ala) c.3671A>C (p.Glu1224Ala) c.8186A>C (p.Glu2729Ala) | |
5 | g.13770770T= | CA1528431176 | DNAH5 | c.9584A= (p.Glu3195=) c.9539A= (p.Glu3180=) n.296A= c.9692A= (p.Glu3231=) c.8597A= (p.Glu2866=) c.4781A= (p.Glu1594=) c.4334A= (p.Glu1445=) c.3671A= (p.Glu1224=) c.8186A= (p.Glu2729=) | |
5 | g.13770771C>A | CA359204179 | DNAH5 | c.9583G>T (p.Glu3195Ter) c.9538G>T (p.Glu3180Ter) n.295G>T c.9691G>T (p.Glu3231Ter) c.8596G>T (p.Glu2866Ter) c.4780G>T (p.Glu1594Ter) c.4333G>T (p.Glu1445Ter) c.3670G>T (p.Glu1224Ter) c.8185G>T (p.Glu2729Ter) | |
5 | g.13770771C= | CA1528431177 | DNAH5 | c.9583G= (p.Glu3195=) c.9538G= (p.Glu3180=) n.295G= c.9691G= (p.Glu3231=) c.8596G= (p.Glu2866=) c.4780G= (p.Glu1594=) c.4333G= (p.Glu1445=) c.3670G= (p.Glu1224=) c.8185G= (p.Glu2729=) | |
5 | g.13770771C>G | CA359204176 | DNAH5 | c.9583G>C (p.Glu3195Gln) c.9538G>C (p.Glu3180Gln) n.295G>C c.9691G>C (p.Glu3231Gln) c.8596G>C (p.Glu2866Gln) c.4780G>C (p.Glu1594Gln) c.4333G>C (p.Glu1445Gln) c.3670G>C (p.Glu1224Gln) c.8185G>C (p.Glu2729Gln) | |
5 | g.13770771C>T | CA359204174 | DNAH5 | c.9583G>A (p.Glu3195Lys) c.9538G>A (p.Glu3180Lys) n.295G>A c.9691G>A (p.Glu3231Lys) c.8596G>A (p.Glu2866Lys) c.4780G>A (p.Glu1594Lys) c.4333G>A (p.Glu1445Lys) c.3670G>A (p.Glu1224Lys) c.8185G>A (p.Glu2729Lys) | dbSNP |
5 | g.13770772C>A | CA443535509 | DNAH5 | c.9582G>T (p.Val3194=) c.9537G>T (p.Val3179=) n.294G>T c.9690G>T (p.Val3230=) c.8595G>T (p.Val2865=) c.4779G>T (p.Val1593=) c.4332G>T (p.Val1444=) c.3669G>T (p.Val1223=) c.8184G>T (p.Val2728=) | |
5 | g.13770772C>G | CA443535507 | DNAH5 | c.9582G>C (p.Val3194=) c.9537G>C (p.Val3179=) n.294G>C c.9690G>C (p.Val3230=) c.8595G>C (p.Val2865=) c.4779G>C (p.Val1593=) c.4332G>C (p.Val1444=) c.3669G>C (p.Val1223=) c.8184G>C (p.Val2728=) | |
5 | g.13770772C>T | CA443535508 | DNAH5 | c.9582G>A (p.Val3194=) c.9537G>A (p.Val3179=) n.294G>A c.9690G>A (p.Val3230=) c.8595G>A (p.Val2865=) c.4779G>A (p.Val1593=) c.4332G>A (p.Val1444=) c.3669G>A (p.Val1223=) c.8184G>A (p.Val2728=) | |
5 | g.13770773A>C | CA359204182 | DNAH5 | c.9581T>G (p.Val3194Gly) c.9536T>G (p.Val3179Gly) n.293T>G c.9689T>G (p.Val3230Gly) c.8594T>G (p.Val2865Gly) c.4778T>G (p.Val1593Gly) c.4331T>G (p.Val1444Gly) c.3668T>G (p.Val1223Gly) c.8183T>G (p.Val2728Gly) | |
5 | g.13770773A>G | CA359204186 | DNAH5 | c.9581T>C (p.Val3194Ala) c.9536T>C (p.Val3179Ala) n.293T>C c.9689T>C (p.Val3230Ala) c.8594T>C (p.Val2865Ala) c.4778T>C (p.Val1593Ala) c.4331T>C (p.Val1444Ala) c.3668T>C (p.Val1223Ala) c.8183T>C (p.Val2728Ala) | |
5 | g.13770773A>T | CA359204185 | DNAH5 | c.9581T>A (p.Val3194Glu) c.9536T>A (p.Val3179Glu) n.293T>A c.9689T>A (p.Val3230Glu) c.8594T>A (p.Val2865Glu) c.4778T>A (p.Val1593Glu) c.4331T>A (p.Val1444Glu) c.3668T>A (p.Val1223Glu) c.8183T>A (p.Val2728Glu) | |
5 | g.13770774C>A | CA359204187 | DNAH5 | c.9580G>T (p.Val3194Leu) c.9535G>T (p.Val3179Leu) n.292G>T c.9688G>T (p.Val3230Leu) c.8593G>T (p.Val2865Leu) c.4777G>T (p.Val1593Leu) c.4330G>T (p.Val1444Leu) c.3667G>T (p.Val1223Leu) c.8182G>T (p.Val2728Leu) | ClinVar dbSNP |
5 | g.13770774C>G | CA359204189 | DNAH5 | c.9580G>C (p.Val3194Leu) c.9535G>C (p.Val3179Leu) n.292G>C c.9688G>C (p.Val3230Leu) c.8593G>C (p.Val2865Leu) c.4777G>C (p.Val1593Leu) c.4330G>C (p.Val1444Leu) c.3667G>C (p.Val1223Leu) c.8182G>C (p.Val2728Leu) | |
5 | g.13770774C>T | CA359204188 | DNAH5 | c.9580G>A (p.Val3194Met) c.9535G>A (p.Val3179Met) n.292G>A c.9688G>A (p.Val3230Met) c.8593G>A (p.Val2865Met) c.4777G>A (p.Val1593Met) c.4330G>A (p.Val1444Met) c.3667G>A (p.Val1223Met) c.8182G>A (p.Val2728Met) | |
5 | g.13770775A= | CA1528431178 | DNAH5 | c.9579T= (p.His3193=) c.9534T= (p.His3178=) n.291T= c.9687T= (p.His3229=) c.8592T= (p.His2864=) c.4776T= (p.His1592=) c.4329T= (p.His1443=) c.3666T= (p.His1222=) c.8181T= (p.His2727=) | |
5 | g.13770775A>C | CA359204190 | DNAH5 | c.9579T>G (p.His3193Gln) c.9534T>G (p.His3178Gln) n.291T>G c.9687T>G (p.His3229Gln) c.8592T>G (p.His2864Gln) c.4776T>G (p.His1592Gln) c.4329T>G (p.His1443Gln) c.3666T>G (p.His1222Gln) c.8181T>G (p.His2727Gln) | gnomAD v4 COSMIC |
5 | g.13770775A>G | CA3202510 | DNAH5 | c.9579T>C (p.His3193=) c.9534T>C (p.His3178=) n.291T>C c.9687T>C (p.His3229=) c.8592T>C (p.His2864=) c.4776T>C (p.His1592=) c.4329T>C (p.His1443=) c.3666T>C (p.His1222=) c.8181T>C (p.His2727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770775A>T | CA359204193 | DNAH5 | c.9579T>A (p.His3193Gln) c.9534T>A (p.His3178Gln) n.291T>A c.9687T>A (p.His3229Gln) c.8592T>A (p.His2864Gln) c.4776T>A (p.His1592Gln) c.4329T>A (p.His1443Gln) c.3666T>A (p.His1222Gln) c.8181T>A (p.His2727Gln) | |
5 | g.13770776T>A | CA359204196 | DNAH5 | c.9578A>T (p.His3193Leu) c.9533A>T (p.His3178Leu) n.290A>T c.9686A>T (p.His3229Leu) c.8591A>T (p.His2864Leu) c.4775A>T (p.His1592Leu) c.4328A>T (p.His1443Leu) c.3665A>T (p.His1222Leu) c.8180A>T (p.His2727Leu) | |
5 | g.13770776T>C | CA3202511 | DNAH5 | c.9578A>G (p.His3193Arg) c.9533A>G (p.His3178Arg) n.290A>G c.9686A>G (p.His3229Arg) c.8591A>G (p.His2864Arg) c.4775A>G (p.His1592Arg) c.4328A>G (p.His1443Arg) c.3665A>G (p.His1222Arg) c.8180A>G (p.His2727Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770776T>G | CA359204199 | DNAH5 | c.9578A>C (p.His3193Pro) c.9533A>C (p.His3178Pro) n.290A>C c.9686A>C (p.His3229Pro) c.8591A>C (p.His2864Pro) c.4775A>C (p.His1592Pro) c.4328A>C (p.His1443Pro) c.3665A>C (p.His1222Pro) c.8180A>C (p.His2727Pro) | gnomAD v4 |
5 | g.13770776T= | CA1528431179 | DNAH5 | c.9578A= (p.His3193=) c.9533A= (p.His3178=) n.290A= c.9686A= (p.His3229=) c.8591A= (p.His2864=) c.4775A= (p.His1592=) c.4328A= (p.His1443=) c.3665A= (p.His1222=) c.8180A= (p.His2727=) | |
5 | g.13770777G>A | CA359204201 | DNAH5 | c.9577C>T (p.His3193Tyr) c.9532C>T (p.His3178Tyr) n.289C>T c.9685C>T (p.His3229Tyr) c.8590C>T (p.His2864Tyr) c.4774C>T (p.His1592Tyr) c.4327C>T (p.His1443Tyr) c.3664C>T (p.His1222Tyr) c.8179C>T (p.His2727Tyr) | |
5 | g.13770777G>C | CA359204203 | DNAH5 | c.9577C>G (p.His3193Asp) c.9532C>G (p.His3178Asp) n.289C>G c.9685C>G (p.His3229Asp) c.8590C>G (p.His2864Asp) c.4774C>G (p.His1592Asp) c.4327C>G (p.His1443Asp) c.3664C>G (p.His1222Asp) c.8179C>G (p.His2727Asp) | |
5 | g.13770777G>T | CA359204205 | DNAH5 | c.9577C>A (p.His3193Asn) c.9532C>A (p.His3178Asn) n.289C>A c.9685C>A (p.His3229Asn) c.8590C>A (p.His2864Asn) c.4774C>A (p.His1592Asn) c.4327C>A (p.His1443Asn) c.3664C>A (p.His1222Asn) c.8179C>A (p.His2727Asn) | |
5 | g.13770778C>A | CA359204208 | DNAH5 | c.9576G>T (p.Lys3192Asn) c.9531G>T (p.Lys3177Asn) n.288G>T c.9684G>T (p.Lys3228Asn) c.8589G>T (p.Lys2863Asn) c.4773G>T (p.Lys1591Asn) c.4326G>T (p.Lys1442Asn) c.3663G>T (p.Lys1221Asn) c.8178G>T (p.Lys2726Asn) | |
5 | g.13770778C= | CA1528431180 | DNAH5 | c.9576G= (p.Lys3192=) c.9531G= (p.Lys3177=) n.288G= c.9684G= (p.Lys3228=) c.8589G= (p.Lys2863=) c.4773G= (p.Lys1591=) c.4326G= (p.Lys1442=) c.3663G= (p.Lys1221=) c.8178G= (p.Lys2726=) | |
5 | g.13770778C>G | CA359204209 | DNAH5 | c.9576G>C (p.Lys3192Asn) c.9531G>C (p.Lys3177Asn) n.288G>C c.9684G>C (p.Lys3228Asn) c.8589G>C (p.Lys2863Asn) c.4773G>C (p.Lys1591Asn) c.4326G>C (p.Lys1442Asn) c.3663G>C (p.Lys1221Asn) c.8178G>C (p.Lys2726Asn) | |
5 | g.13770778C>T | CA443535513 | DNAH5 | c.9576G>A (p.Lys3192=) c.9531G>A (p.Lys3177=) n.288G>A c.9684G>A (p.Lys3228=) c.8589G>A (p.Lys2863=) c.4773G>A (p.Lys1591=) c.4326G>A (p.Lys1442=) c.3663G>A (p.Lys1221=) c.8178G>A (p.Lys2726=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770779T>A | CA359204214 | DNAH5 | c.9575A>T (p.Lys3192Met) c.9530A>T (p.Lys3177Met) n.287A>T c.9683A>T (p.Lys3228Met) c.8588A>T (p.Lys2863Met) c.4772A>T (p.Lys1591Met) c.4325A>T (p.Lys1442Met) c.3662A>T (p.Lys1221Met) c.8177A>T (p.Lys2726Met) | |
5 | g.13770779T>C | CA3202512 | DNAH5 | c.9575A>G (p.Lys3192Arg) c.9530A>G (p.Lys3177Arg) n.287A>G c.9683A>G (p.Lys3228Arg) c.8588A>G (p.Lys2863Arg) c.4772A>G (p.Lys1591Arg) c.4325A>G (p.Lys1442Arg) c.3662A>G (p.Lys1221Arg) c.8177A>G (p.Lys2726Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770779T>G | CA359204210 | DNAH5 | c.9575A>C (p.Lys3192Thr) c.9530A>C (p.Lys3177Thr) n.287A>C c.9683A>C (p.Lys3228Thr) c.8588A>C (p.Lys2863Thr) c.4772A>C (p.Lys1591Thr) c.4325A>C (p.Lys1442Thr) c.3662A>C (p.Lys1221Thr) c.8177A>C (p.Lys2726Thr) | |
5 | g.13770779T= | CA1528431181 | DNAH5 | c.9575A= (p.Lys3192=) c.9530A= (p.Lys3177=) n.287A= c.9683A= (p.Lys3228=) c.8588A= (p.Lys2863=) c.4772A= (p.Lys1591=) c.4325A= (p.Lys1442=) c.3662A= (p.Lys1221=) c.8177A= (p.Lys2726=) | |
5 | g.13770780T>A | CA359204219 | DNAH5 | c.9574A>T (p.Lys3192Ter) c.9529A>T (p.Lys3177Ter) n.286A>T c.9682A>T (p.Lys3228Ter) c.8587A>T (p.Lys2863Ter) c.4771A>T (p.Lys1591Ter) c.4324A>T (p.Lys1442Ter) c.3661A>T (p.Lys1221Ter) c.8176A>T (p.Lys2726Ter) | |
5 | g.13770780T>C | CA359204221 | DNAH5 | c.9574A>G (p.Lys3192Glu) c.9529A>G (p.Lys3177Glu) n.286A>G c.9682A>G (p.Lys3228Glu) c.8587A>G (p.Lys2863Glu) c.4771A>G (p.Lys1591Glu) c.4324A>G (p.Lys1442Glu) c.3661A>G (p.Lys1221Glu) c.8176A>G (p.Lys2726Glu) | |
5 | g.13770780T>G | CA359204222 | DNAH5 | c.9574A>C (p.Lys3192Gln) c.9529A>C (p.Lys3177Gln) n.286A>C c.9682A>C (p.Lys3228Gln) c.8587A>C (p.Lys2863Gln) c.4771A>C (p.Lys1591Gln) c.4324A>C (p.Lys1442Gln) c.3661A>C (p.Lys1221Gln) c.8176A>C (p.Lys2726Gln) | |
5 | g.13770781T>A | CA359204226 | DNAH5 | c.9573A>T (p.Glu3191Asp) c.9528A>T (p.Glu3176Asp) n.285A>T c.9681A>T (p.Glu3227Asp) c.8586A>T (p.Glu2862Asp) c.4770A>T (p.Glu1590Asp) c.4323A>T (p.Glu1441Asp) c.3660A>T (p.Glu1220Asp) c.8175A>T (p.Glu2725Asp) | |
5 | g.13770781T>C | CA3202513 | DNAH5 | c.9573A>G (p.Glu3191=) c.9528A>G (p.Glu3176=) n.285A>G c.9681A>G (p.Glu3227=) c.8586A>G (p.Glu2862=) c.4770A>G (p.Glu1590=) c.4323A>G (p.Glu1441=) c.3660A>G (p.Glu1220=) c.8175A>G (p.Glu2725=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770781T>G | CA359204229 | DNAH5 | c.9573A>C (p.Glu3191Asp) c.9528A>C (p.Glu3176Asp) n.285A>C c.9681A>C (p.Glu3227Asp) c.8586A>C (p.Glu2862Asp) c.4770A>C (p.Glu1590Asp) c.4323A>C (p.Glu1441Asp) c.3660A>C (p.Glu1220Asp) c.8175A>C (p.Glu2725Asp) | |
5 | g.13770781T= | CA1528431182 | DNAH5 | c.9573A= (p.Glu3191=) c.9528A= (p.Glu3176=) n.285A= c.9681A= (p.Glu3227=) c.8586A= (p.Glu2862=) c.4770A= (p.Glu1590=) c.4323A= (p.Glu1441=) c.3660A= (p.Glu1220=) c.8175A= (p.Glu2725=) | |
5 | g.13770782T>A | CA359204231 | DNAH5 | c.9572A>T (p.Glu3191Val) c.9527A>T (p.Glu3176Val) n.284A>T c.9680A>T (p.Glu3227Val) c.8585A>T (p.Glu2862Val) c.4769A>T (p.Glu1590Val) c.4322A>T (p.Glu1441Val) c.3659A>T (p.Glu1220Val) c.8174A>T (p.Glu2725Val) | |
5 | g.13770782T>C | CA359204236 | DNAH5 | c.9572A>G (p.Glu3191Gly) c.9527A>G (p.Glu3176Gly) n.284A>G c.9680A>G (p.Glu3227Gly) c.8585A>G (p.Glu2862Gly) c.4769A>G (p.Glu1590Gly) c.4322A>G (p.Glu1441Gly) c.3659A>G (p.Glu1220Gly) c.8174A>G (p.Glu2725Gly) | |
5 | g.13770782T>G | CA359204234 | DNAH5 | c.9572A>C (p.Glu3191Ala) c.9527A>C (p.Glu3176Ala) n.284A>C c.9680A>C (p.Glu3227Ala) c.8585A>C (p.Glu2862Ala) c.4769A>C (p.Glu1590Ala) c.4322A>C (p.Glu1441Ala) c.3659A>C (p.Glu1220Ala) c.8174A>C (p.Glu2725Ala) | |
5 | g.13770783C>A | CA359204238 | DNAH5 | c.9571G>T (p.Glu3191Ter) c.9526G>T (p.Glu3176Ter) n.283G>T c.9679G>T (p.Glu3227Ter) c.8584G>T (p.Glu2862Ter) c.4768G>T (p.Glu1590Ter) c.4321G>T (p.Glu1441Ter) c.3658G>T (p.Glu1220Ter) c.8173G>T (p.Glu2725Ter) | |
5 | g.13770783C>G | CA359204243 | DNAH5 | c.9571G>C (p.Glu3191Gln) c.9526G>C (p.Glu3176Gln) n.283G>C c.9679G>C (p.Glu3227Gln) c.8584G>C (p.Glu2862Gln) c.4768G>C (p.Glu1590Gln) c.4321G>C (p.Glu1441Gln) c.3658G>C (p.Glu1220Gln) c.8173G>C (p.Glu2725Gln) | |
5 | g.13770783C>T | CA359204246 | DNAH5 | c.9571G>A (p.Glu3191Lys) c.9526G>A (p.Glu3176Lys) n.283G>A c.9679G>A (p.Glu3227Lys) c.8584G>A (p.Glu2862Lys) c.4768G>A (p.Glu1590Lys) c.4321G>A (p.Glu1441Lys) c.3658G>A (p.Glu1220Lys) c.8173G>A (p.Glu2725Lys) | |
5 | g.13770784T>A | CA443535519 | DNAH5 | c.9570A>T (p.Gly3190=) c.9525A>T (p.Gly3175=) n.282A>T c.9678A>T (p.Gly3226=) c.8583A>T (p.Gly2861=) c.4767A>T (p.Gly1589=) c.4320A>T (p.Gly1440=) c.3657A>T (p.Gly1219=) c.8172A>T (p.Gly2724=) | |
5 | g.13770784T>C | CA443535520 | DNAH5 | c.9570A>G (p.Gly3190=) c.9525A>G (p.Gly3175=) n.282A>G c.9678A>G (p.Gly3226=) c.8583A>G (p.Gly2861=) c.4767A>G (p.Gly1589=) c.4320A>G (p.Gly1440=) c.3657A>G (p.Gly1219=) c.8172A>G (p.Gly2724=) | |
5 | g.13770784T>G | CA443535521 | DNAH5 | c.9570A>C (p.Gly3190=) c.9525A>C (p.Gly3175=) n.282A>C c.9678A>C (p.Gly3226=) c.8583A>C (p.Gly2861=) c.4767A>C (p.Gly1589=) c.4320A>C (p.Gly1440=) c.3657A>C (p.Gly1219=) c.8172A>C (p.Gly2724=) | |
5 | g.13770785C>A | CA359204249 | DNAH5 | c.9569G>T (p.Gly3190Val) c.9524G>T (p.Gly3175Val) n.281G>T c.9677G>T (p.Gly3226Val) c.8582G>T (p.Gly2861Val) c.4766G>T (p.Gly1589Val) c.4319G>T (p.Gly1440Val) c.3656G>T (p.Gly1219Val) c.8171G>T (p.Gly2724Val) | dbSNP |
5 | g.13770785C= | CA1528431183 | DNAH5 | c.9569G= (p.Gly3190=) c.9524G= (p.Gly3175=) n.281G= c.9677G= (p.Gly3226=) c.8582G= (p.Gly2861=) c.4766G= (p.Gly1589=) c.4319G= (p.Gly1440=) c.3656G= (p.Gly1219=) c.8171G= (p.Gly2724=) | |
5 | g.13770785C>G | CA359204256 | DNAH5 | c.9569G>C (p.Gly3190Ala) c.9524G>C (p.Gly3175Ala) n.281G>C c.9677G>C (p.Gly3226Ala) c.8582G>C (p.Gly2861Ala) c.4766G>C (p.Gly1589Ala) c.4319G>C (p.Gly1440Ala) c.3656G>C (p.Gly1219Ala) c.8171G>C (p.Gly2724Ala) | |
5 | g.13770785C>T | CA359204257 | DNAH5 | c.9569G>A (p.Gly3190Glu) c.9524G>A (p.Gly3175Glu) n.281G>A c.9677G>A (p.Gly3226Glu) c.8582G>A (p.Gly2861Glu) c.4766G>A (p.Gly1589Glu) c.4319G>A (p.Gly1440Glu) c.3656G>A (p.Gly1219Glu) c.8171G>A (p.Gly2724Glu) | |
5 | g.13770786C>A | CA359204258 | DNAH5 | c.9568G>T (p.Gly3190Ter) c.9523G>T (p.Gly3175Ter) n.280G>T c.9676G>T (p.Gly3226Ter) c.8581G>T (p.Gly2861Ter) c.4765G>T (p.Gly1589Ter) c.4318G>T (p.Gly1440Ter) c.3655G>T (p.Gly1219Ter) c.8170G>T (p.Gly2724Ter) | |
5 | g.13770786C>G | CA359204259 | DNAH5 | c.9568G>C (p.Gly3190Arg) c.9523G>C (p.Gly3175Arg) n.280G>C c.9676G>C (p.Gly3226Arg) c.8581G>C (p.Gly2861Arg) c.4765G>C (p.Gly1589Arg) c.4318G>C (p.Gly1440Arg) c.3655G>C (p.Gly1219Arg) c.8170G>C (p.Gly2724Arg) | |
5 | g.13770786C>T | CA359204261 | DNAH5 | c.9568G>A (p.Gly3190Arg) c.9523G>A (p.Gly3175Arg) n.280G>A c.9676G>A (p.Gly3226Arg) c.8581G>A (p.Gly2861Arg) c.4765G>A (p.Gly1589Arg) c.4318G>A (p.Gly1440Arg) c.3655G>A (p.Gly1219Arg) c.8170G>A (p.Gly2724Arg) | COSMIC |
5 | g.13770787A>C | CA359204263 | DNAH5 | c.9567T>G (p.Tyr3189Ter) c.9522T>G (p.Tyr3174Ter) n.279T>G c.9675T>G (p.Tyr3225Ter) c.8580T>G (p.Tyr2860Ter) c.4764T>G (p.Tyr1588Ter) c.4317T>G (p.Tyr1439Ter) c.3654T>G (p.Tyr1218Ter) c.8169T>G (p.Tyr2723Ter) | |
5 | g.13770787A>G | CA443535524 | DNAH5 | c.9567T>C (p.Tyr3189=) c.9522T>C (p.Tyr3174=) n.279T>C c.9675T>C (p.Tyr3225=) c.8580T>C (p.Tyr2860=) c.4764T>C (p.Tyr1588=) c.4317T>C (p.Tyr1439=) c.3654T>C (p.Tyr1218=) c.8169T>C (p.Tyr2723=) | gnomAD v4 |
5 | g.13770787A>T | CA359204269 | DNAH5 | c.9567T>A (p.Tyr3189Ter) c.9522T>A (p.Tyr3174Ter) n.279T>A c.9675T>A (p.Tyr3225Ter) c.8580T>A (p.Tyr2860Ter) c.4764T>A (p.Tyr1588Ter) c.4317T>A (p.Tyr1439Ter) c.3654T>A (p.Tyr1218Ter) c.8169T>A (p.Tyr2723Ter) | |
5 | g.13770788T>A | CA359204270 | DNAH5 | c.9566A>T (p.Tyr3189Phe) c.9521A>T (p.Tyr3174Phe) n.278A>T c.9674A>T (p.Tyr3225Phe) c.8579A>T (p.Tyr2860Phe) c.4763A>T (p.Tyr1588Phe) c.4316A>T (p.Tyr1439Phe) c.3653A>T (p.Tyr1218Phe) c.8168A>T (p.Tyr2723Phe) | |
5 | g.13770788T>C | CA359204273 | DNAH5 | c.9566A>G (p.Tyr3189Cys) c.9521A>G (p.Tyr3174Cys) n.278A>G c.9674A>G (p.Tyr3225Cys) c.8579A>G (p.Tyr2860Cys) c.4763A>G (p.Tyr1588Cys) c.4316A>G (p.Tyr1439Cys) c.3653A>G (p.Tyr1218Cys) c.8168A>G (p.Tyr2723Cys) | gnomAD v4 |
5 | g.13770788T>G | CA359204271 | DNAH5 | c.9566A>C (p.Tyr3189Ser) c.9521A>C (p.Tyr3174Ser) n.278A>C c.9674A>C (p.Tyr3225Ser) c.8579A>C (p.Tyr2860Ser) c.4763A>C (p.Tyr1588Ser) c.4316A>C (p.Tyr1439Ser) c.3653A>C (p.Tyr1218Ser) c.8168A>C (p.Tyr2723Ser) | |
5 | g.13770789A= | CA1528431184 | DNAH5 | c.9565T= (p.Tyr3189=) c.9520T= (p.Tyr3174=) n.277T= c.9673T= (p.Tyr3225=) c.8578T= (p.Tyr2860=) c.4762T= (p.Tyr1588=) c.4315T= (p.Tyr1439=) c.3652T= (p.Tyr1218=) c.8167T= (p.Tyr2723=) | |
5 | g.13770789A>C | CA3202514 | DNAH5 | c.9565T>G (p.Tyr3189Asp) c.9520T>G (p.Tyr3174Asp) n.277T>G c.9673T>G (p.Tyr3225Asp) c.8578T>G (p.Tyr2860Asp) c.4762T>G (p.Tyr1588Asp) c.4315T>G (p.Tyr1439Asp) c.3652T>G (p.Tyr1218Asp) c.8167T>G (p.Tyr2723Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770789A>G | CA3202515 | DNAH5 | c.9565T>C (p.Tyr3189His) c.9520T>C (p.Tyr3174His) n.277T>C c.9673T>C (p.Tyr3225His) c.8578T>C (p.Tyr2860His) c.4762T>C (p.Tyr1588His) c.4315T>C (p.Tyr1439His) c.3652T>C (p.Tyr1218His) c.8167T>C (p.Tyr2723His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770789A>T | CA359204284 | DNAH5 | c.9565T>A (p.Tyr3189Asn) c.9520T>A (p.Tyr3174Asn) n.277T>A c.9673T>A (p.Tyr3225Asn) c.8578T>A (p.Tyr2860Asn) c.4762T>A (p.Tyr1588Asn) c.4315T>A (p.Tyr1439Asn) c.3652T>A (p.Tyr1218Asn) c.8167T>A (p.Tyr2723Asn) | |
5 | g.13770790T>A | CA3202516 | DNAH5 | c.9564A>T (p.Ile3188=) c.9519A>T (p.Ile3173=) n.276A>T c.9672A>T (p.Ile3224=) c.8577A>T (p.Ile2859=) c.4761A>T (p.Ile1587=) c.4314A>T (p.Ile1438=) c.3651A>T (p.Ile1217=) c.8166A>T (p.Ile2722=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770790T>C | CA359204289 | DNAH5 | c.9564A>G (p.Ile3188Met) c.9519A>G (p.Ile3173Met) n.276A>G c.9672A>G (p.Ile3224Met) c.8577A>G (p.Ile2859Met) c.4761A>G (p.Ile1587Met) c.4314A>G (p.Ile1438Met) c.3651A>G (p.Ile1217Met) c.8166A>G (p.Ile2722Met) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770790T>G | CA443535528 | DNAH5 | c.9564A>C (p.Ile3188=) c.9519A>C (p.Ile3173=) n.276A>C c.9672A>C (p.Ile3224=) c.8577A>C (p.Ile2859=) c.4761A>C (p.Ile1587=) c.4314A>C (p.Ile1438=) c.3651A>C (p.Ile1217=) c.8166A>C (p.Ile2722=) | |
5 | g.13770790T= | CA1528431185 | DNAH5 | c.9564A= (p.Ile3188=) c.9519A= (p.Ile3173=) n.276A= c.9672A= (p.Ile3224=) c.8577A= (p.Ile2859=) c.4761A= (p.Ile1587=) c.4314A= (p.Ile1438=) c.3651A= (p.Ile1217=) c.8166A= (p.Ile2722=) | |
5 | g.13770791A>C | CA359204291 | DNAH5 | c.9563T>G (p.Ile3188Arg) c.9518T>G (p.Ile3173Arg) n.275T>G c.9671T>G (p.Ile3224Arg) c.8576T>G (p.Ile2859Arg) c.4760T>G (p.Ile1587Arg) c.4313T>G (p.Ile1438Arg) c.3650T>G (p.Ile1217Arg) c.8165T>G (p.Ile2722Arg) | |
5 | g.13770791A>G | CA359204292 | DNAH5 | c.9563T>C (p.Ile3188Thr) c.9518T>C (p.Ile3173Thr) n.275T>C c.9671T>C (p.Ile3224Thr) c.8576T>C (p.Ile2859Thr) c.4760T>C (p.Ile1587Thr) c.4313T>C (p.Ile1438Thr) c.3650T>C (p.Ile1217Thr) c.8165T>C (p.Ile2722Thr) | |
5 | g.13770791A>T | CA359204293 | DNAH5 | c.9563T>A (p.Ile3188Lys) c.9518T>A (p.Ile3173Lys) n.275T>A c.9671T>A (p.Ile3224Lys) c.8576T>A (p.Ile2859Lys) c.4760T>A (p.Ile1587Lys) c.4313T>A (p.Ile1438Lys) c.3650T>A (p.Ile1217Lys) c.8165T>A (p.Ile2722Lys) | |
5 | g.13770792T>A | CA359204294 | DNAH5 | c.9562A>T (p.Ile3188Leu) c.9517A>T (p.Ile3173Leu) n.274A>T c.9670A>T (p.Ile3224Leu) c.8575A>T (p.Ile2859Leu) c.4759A>T (p.Ile1587Leu) c.4312A>T (p.Ile1438Leu) c.3649A>T (p.Ile1217Leu) c.8164A>T (p.Ile2722Leu) | |
5 | g.13770792T>C | CA359204296 | DNAH5 | c.9562A>G (p.Ile3188Val) c.9517A>G (p.Ile3173Val) n.274A>G c.9670A>G (p.Ile3224Val) c.8575A>G (p.Ile2859Val) c.4759A>G (p.Ile1587Val) c.4312A>G (p.Ile1438Val) c.3649A>G (p.Ile1217Val) c.8164A>G (p.Ile2722Val) | |
5 | g.13770792T>G | CA359204299 | DNAH5 | c.9562A>C (p.Ile3188Leu) c.9517A>C (p.Ile3173Leu) n.274A>C c.9670A>C (p.Ile3224Leu) c.8575A>C (p.Ile2859Leu) c.4759A>C (p.Ile1587Leu) c.4312A>C (p.Ile1438Leu) c.3649A>C (p.Ile1217Leu) c.8164A>C (p.Ile2722Leu) | gnomAD v4 |
5 | g.13770793G>A | CA3202517 | DNAH5 | c.9561C>T (p.Phe3187=) c.9516C>T (p.Phe3172=) n.273C>T c.9669C>T (p.Phe3223=) c.8574C>T (p.Phe2858=) c.4758C>T (p.Phe1586=) c.4311C>T (p.Phe1437=) c.3648C>T (p.Phe1216=) c.8163C>T (p.Phe2721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
5 | g.13770793G>C | CA359204305 | DNAH5 | c.9561C>G (p.Phe3187Leu) c.9516C>G (p.Phe3172Leu) n.273C>G c.9669C>G (p.Phe3223Leu) c.8574C>G (p.Phe2858Leu) c.4758C>G (p.Phe1586Leu) c.4311C>G (p.Phe1437Leu) c.3648C>G (p.Phe1216Leu) c.8163C>G (p.Phe2721Leu) | |
5 | g.13770793G= | CA1528431186 | DNAH5 | c.9561C= (p.Phe3187=) c.9516C= (p.Phe3172=) n.273C= c.9669C= (p.Phe3223=) c.8574C= (p.Phe2858=) c.4758C= (p.Phe1586=) c.4311C= (p.Phe1437=) c.3648C= (p.Phe1216=) c.8163C= (p.Phe2721=) | |
5 | g.13770793G>T | CA359204307 | DNAH5 | c.9561C>A (p.Phe3187Leu) c.9516C>A (p.Phe3172Leu) n.273C>A c.9669C>A (p.Phe3223Leu) c.8574C>A (p.Phe2858Leu) c.4758C>A (p.Phe1586Leu) c.4311C>A (p.Phe1437Leu) c.3648C>A (p.Phe1216Leu) c.8163C>A (p.Phe2721Leu) | |
5 | g.13770794A>C | CA359204310 | DNAH5 | c.9560T>G (p.Phe3187Cys) c.9515T>G (p.Phe3172Cys) n.272T>G c.9668T>G (p.Phe3223Cys) c.8573T>G (p.Phe2858Cys) c.4757T>G (p.Phe1586Cys) c.4310T>G (p.Phe1437Cys) c.3647T>G (p.Phe1216Cys) c.8162T>G (p.Phe2721Cys) | |
5 | g.13770794A>G | CA359204311 | DNAH5 | c.9560T>C (p.Phe3187Ser) c.9515T>C (p.Phe3172Ser) n.272T>C c.9668T>C (p.Phe3223Ser) c.8573T>C (p.Phe2858Ser) c.4757T>C (p.Phe1586Ser) c.4310T>C (p.Phe1437Ser) c.3647T>C (p.Phe1216Ser) c.8162T>C (p.Phe2721Ser) | |
5 | g.13770794A>T | CA359204314 | DNAH5 | c.9560T>A (p.Phe3187Tyr) c.9515T>A (p.Phe3172Tyr) n.272T>A c.9668T>A (p.Phe3223Tyr) c.8573T>A (p.Phe2858Tyr) c.4757T>A (p.Phe1586Tyr) c.4310T>A (p.Phe1437Tyr) c.3647T>A (p.Phe1216Tyr) c.8162T>A (p.Phe2721Tyr) | |
5 | g.13770795A>C | CA359204316 | DNAH5 | c.9559T>G (p.Phe3187Val) c.9514T>G (p.Phe3172Val) n.271T>G c.9667T>G (p.Phe3223Val) c.8572T>G (p.Phe2858Val) c.4756T>G (p.Phe1586Val) c.4309T>G (p.Phe1437Val) c.3646T>G (p.Phe1216Val) c.8161T>G (p.Phe2721Val) | |
5 | g.13770795A>G | CA359204317 | DNAH5 | c.9559T>C (p.Phe3187Leu) c.9514T>C (p.Phe3172Leu) n.271T>C c.9667T>C (p.Phe3223Leu) c.8572T>C (p.Phe2858Leu) c.4756T>C (p.Phe1586Leu) c.4309T>C (p.Phe1437Leu) c.3646T>C (p.Phe1216Leu) c.8161T>C (p.Phe2721Leu) | |
5 | g.13770795A>T | CA359204319 | DNAH5 | c.9559T>A (p.Phe3187Ile) c.9514T>A (p.Phe3172Ile) n.271T>A c.9667T>A (p.Phe3223Ile) c.8572T>A (p.Phe2858Ile) c.4756T>A (p.Phe1586Ile) c.4309T>A (p.Phe1437Ile) c.3646T>A (p.Phe1216Ile) c.8161T>A (p.Phe2721Ile) | |
5 | g.13770796C>A | CA359204323 | DNAH5 | c.9558G>T (p.Lys3186Asn) c.9513G>T (p.Lys3171Asn) n.270G>T c.9666G>T (p.Lys3222Asn) c.8571G>T (p.Lys2857Asn) c.4755G>T (p.Lys1585Asn) c.4308G>T (p.Lys1436Asn) c.3645G>T (p.Lys1215Asn) c.8160G>T (p.Lys2720Asn) | dbSNP gnomAD v4 |
5 | g.13770796C= | CA1528431187 | DNAH5 | c.9558G= (p.Lys3186=) c.9513G= (p.Lys3171=) n.270G= c.9666G= (p.Lys3222=) c.8571G= (p.Lys2857=) c.4755G= (p.Lys1585=) c.4308G= (p.Lys1436=) c.3645G= (p.Lys1215=) c.8160G= (p.Lys2720=) | |
5 | g.13770796C>G | CA359204325 | DNAH5 | c.9558G>C (p.Lys3186Asn) c.9513G>C (p.Lys3171Asn) n.270G>C c.9666G>C (p.Lys3222Asn) c.8571G>C (p.Lys2857Asn) c.4755G>C (p.Lys1585Asn) c.4308G>C (p.Lys1436Asn) c.3645G>C (p.Lys1215Asn) c.8160G>C (p.Lys2720Asn) | |
5 | g.13770796C>T | CA443535530 | DNAH5 | c.9558G>A (p.Lys3186=) c.9513G>A (p.Lys3171=) n.270G>A c.9666G>A (p.Lys3222=) c.8571G>A (p.Lys2857=) c.4755G>A (p.Lys1585=) c.4308G>A (p.Lys1436=) c.3645G>A (p.Lys1215=) c.8160G>A (p.Lys2720=) | gnomAD v4 |
5 | g.13770797T>A | CA359204328 | DNAH5 | c.9557A>T (p.Lys3186Met) c.9512A>T (p.Lys3171Met) n.269A>T c.9665A>T (p.Lys3222Met) c.8570A>T (p.Lys2857Met) c.4754A>T (p.Lys1585Met) c.4307A>T (p.Lys1436Met) c.3644A>T (p.Lys1215Met) c.8159A>T (p.Lys2720Met) | |
5 | g.13770797T>C | CA359204334 | DNAH5 | c.9557A>G (p.Lys3186Arg) c.9512A>G (p.Lys3171Arg) n.269A>G c.9665A>G (p.Lys3222Arg) c.8570A>G (p.Lys2857Arg) c.4754A>G (p.Lys1585Arg) c.4307A>G (p.Lys1436Arg) c.3644A>G (p.Lys1215Arg) c.8159A>G (p.Lys2720Arg) | |
5 | g.13770797T>G | CA359204336 | DNAH5 | c.9557A>C (p.Lys3186Thr) c.9512A>C (p.Lys3171Thr) n.269A>C c.9665A>C (p.Lys3222Thr) c.8570A>C (p.Lys2857Thr) c.4754A>C (p.Lys1585Thr) c.4307A>C (p.Lys1436Thr) c.3644A>C (p.Lys1215Thr) c.8159A>C (p.Lys2720Thr) | |
5 | g.13770798del | CA2573138458 | DNAH5 | c.9557del (p.Lys3186SerfsTer18) c.9512del (p.Lys3171SerfsTer18) n.269del c.9665del (p.Lys3222SerfsTer18) c.8570del (p.Lys2857SerfsTer18) c.9665del (p.Lys3222SerfsTer?) c.4754del (p.Lys1585SerfsTer18) c.4307del (p.Lys1436SerfsTer18) c.3644del (p.Lys1215SerfsTer18) c.8159del (p.Lys2720SerfsTer18) | ClinVar dbSNP |
5 | g.13770798T>A | CA359204343 | DNAH5 | c.9556A>T (p.Lys3186Ter) c.9511A>T (p.Lys3171Ter) n.268A>T c.9664A>T (p.Lys3222Ter) c.8569A>T (p.Lys2857Ter) c.4753A>T (p.Lys1585Ter) c.4306A>T (p.Lys1436Ter) c.3643A>T (p.Lys1215Ter) c.8158A>T (p.Lys2720Ter) | |
5 | g.13770798T>C | CA359204344 | DNAH5 | c.9556A>G (p.Lys3186Glu) c.9511A>G (p.Lys3171Glu) n.268A>G c.9664A>G (p.Lys3222Glu) c.8569A>G (p.Lys2857Glu) c.4753A>G (p.Lys1585Glu) c.4306A>G (p.Lys1436Glu) c.3643A>G (p.Lys1215Glu) c.8158A>G (p.Lys2720Glu) | |
5 | g.13770798T>G | CA359204341 | DNAH5 | c.9556A>C (p.Lys3186Gln) c.9511A>C (p.Lys3171Gln) n.268A>C c.9664A>C (p.Lys3222Gln) c.8569A>C (p.Lys2857Gln) c.4753A>C (p.Lys1585Gln) c.4306A>C (p.Lys1436Gln) c.3643A>C (p.Lys1215Gln) c.8158A>C (p.Lys2720Gln) | |
5 | g.13770799A>C | CA359204349 | DNAH5 | c.9555T>G (p.Tyr3185Ter) c.9510T>G (p.Tyr3170Ter) n.267T>G c.9663T>G (p.Tyr3221Ter) c.8568T>G (p.Tyr2856Ter) c.4752T>G (p.Tyr1584Ter) c.4305T>G (p.Tyr1435Ter) c.3642T>G (p.Tyr1214Ter) c.8157T>G (p.Tyr2719Ter) | |
5 | g.13770799A>G | CA443535533 | DNAH5 | c.9555T>C (p.Tyr3185=) c.9510T>C (p.Tyr3170=) n.267T>C c.9663T>C (p.Tyr3221=) c.8568T>C (p.Tyr2856=) c.4752T>C (p.Tyr1584=) c.4305T>C (p.Tyr1435=) c.3642T>C (p.Tyr1214=) c.8157T>C (p.Tyr2719=) | COSMIC |
5 | g.13770799A>T | CA359204347 | DNAH5 | c.9555T>A (p.Tyr3185Ter) c.9510T>A (p.Tyr3170Ter) n.267T>A c.9663T>A (p.Tyr3221Ter) c.8568T>A (p.Tyr2856Ter) c.4752T>A (p.Tyr1584Ter) c.4305T>A (p.Tyr1435Ter) c.3642T>A (p.Tyr1214Ter) c.8157T>A (p.Tyr2719Ter) | ClinVar COSMIC |
5 | g.13770800T>A | CA359204353 | DNAH5 | c.9554A>T (p.Tyr3185Phe) c.9509A>T (p.Tyr3170Phe) n.266A>T c.9662A>T (p.Tyr3221Phe) c.8567A>T (p.Tyr2856Phe) c.4751A>T (p.Tyr1584Phe) c.4304A>T (p.Tyr1435Phe) c.3641A>T (p.Tyr1214Phe) c.8156A>T (p.Tyr2719Phe) | |
5 | g.13770800T>C | CA113932806 | DNAH5 | c.9554A>G (p.Tyr3185Cys) c.9509A>G (p.Tyr3170Cys) n.266A>G c.9662A>G (p.Tyr3221Cys) c.8567A>G (p.Tyr2856Cys) c.4751A>G (p.Tyr1584Cys) c.4304A>G (p.Tyr1435Cys) c.3641A>G (p.Tyr1214Cys) c.8156A>G (p.Tyr2719Cys) | ClinVar dbSNP gnomAD v4 |
5 | g.13770800T>G | CA359204357 | DNAH5 | c.9554A>C (p.Tyr3185Ser) c.9509A>C (p.Tyr3170Ser) n.266A>C c.9662A>C (p.Tyr3221Ser) c.8567A>C (p.Tyr2856Ser) c.4751A>C (p.Tyr1584Ser) c.4304A>C (p.Tyr1435Ser) c.3641A>C (p.Tyr1214Ser) c.8156A>C (p.Tyr2719Ser) | gnomAD v4 |
5 | g.13770800T= | CA1528431188 | DNAH5 | c.9554A= (p.Tyr3185=) c.9509A= (p.Tyr3170=) n.266A= c.9662A= (p.Tyr3221=) c.8567A= (p.Tyr2856=) c.4751A= (p.Tyr1584=) c.4304A= (p.Tyr1435=) c.3641A= (p.Tyr1214=) c.8156A= (p.Tyr2719=) | |
5 | g.13770801A>C | CA359204359 | DNAH5 | c.9553T>G (p.Tyr3185Asp) c.9508T>G (p.Tyr3170Asp) n.265T>G c.9661T>G (p.Tyr3221Asp) c.8566T>G (p.Tyr2856Asp) c.4750T>G (p.Tyr1584Asp) c.4303T>G (p.Tyr1435Asp) c.3640T>G (p.Tyr1214Asp) c.8155T>G (p.Tyr2719Asp) | |
5 | g.13770801A>G | CA359204361 | DNAH5 | c.9553T>C (p.Tyr3185His) c.9508T>C (p.Tyr3170His) n.265T>C c.9661T>C (p.Tyr3221His) c.8566T>C (p.Tyr2856His) c.4750T>C (p.Tyr1584His) c.4303T>C (p.Tyr1435His) c.3640T>C (p.Tyr1214His) c.8155T>C (p.Tyr2719His) | |
5 | g.13770801A>T | CA359204362 | DNAH5 | c.9553T>A (p.Tyr3185Asn) c.9508T>A (p.Tyr3170Asn) n.265T>A c.9661T>A (p.Tyr3221Asn) c.8566T>A (p.Tyr2856Asn) c.4750T>A (p.Tyr1584Asn) c.4303T>A (p.Tyr1435Asn) c.3640T>A (p.Tyr1214Asn) c.8155T>A (p.Tyr2719Asn) | |
5 | g.13770802G>A | CA443535537 | DNAH5 | c.9552C>T (p.Gly3184=) c.9507C>T (p.Gly3169=) n.264C>T c.9660C>T (p.Gly3220=) c.8565C>T (p.Gly2855=) c.4749C>T (p.Gly1583=) c.4302C>T (p.Gly1434=) c.3639C>T (p.Gly1213=) c.8154C>T (p.Gly2718=) | COSMIC |
5 | g.13770802G>C | CA443535538 | DNAH5 | c.9552C>G (p.Gly3184=) c.9507C>G (p.Gly3169=) n.264C>G c.9660C>G (p.Gly3220=) c.8565C>G (p.Gly2855=) c.4749C>G (p.Gly1583=) c.4302C>G (p.Gly1434=) c.3639C>G (p.Gly1213=) c.8154C>G (p.Gly2718=) | |
5 | g.13770802G= | CA1528431189 | DNAH5 | c.9552C= (p.Gly3184=) c.9507C= (p.Gly3169=) n.264C= c.9660C= (p.Gly3220=) c.8565C= (p.Gly2855=) c.4749C= (p.Gly1583=) c.4302C= (p.Gly1434=) c.3639C= (p.Gly1213=) c.8154C= (p.Gly2718=) | |
5 | g.13770802G>T | CA3202518 | DNAH5 | c.9552C>A (p.Gly3184=) c.9507C>A (p.Gly3169=) n.264C>A c.9660C>A (p.Gly3220=) c.8565C>A (p.Gly2855=) c.4749C>A (p.Gly1583=) c.4302C>A (p.Gly1434=) c.3639C>A (p.Gly1213=) c.8154C>A (p.Gly2718=) | ClinVar dbSNP ExAC gnomAD v2 |
5 | g.13770803C>A | CA3202520 | DNAH5 | c.9551G>T (p.Gly3184Val) c.9506G>T (p.Gly3169Val) n.263G>T c.9659G>T (p.Gly3220Val) c.8564G>T (p.Gly2855Val) c.4748G>T (p.Gly1583Val) c.4301G>T (p.Gly1434Val) c.3638G>T (p.Gly1213Val) c.8153G>T (p.Gly2718Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13770803C= | CA1528431190 | DNAH5 | c.9551G= (p.Gly3184=) c.9506G= (p.Gly3169=) n.263G= c.9659G= (p.Gly3220=) c.8564G= (p.Gly2855=) c.4748G= (p.Gly1583=) c.4301G= (p.Gly1434=) c.3638G= (p.Gly1213=) c.8153G= (p.Gly2718=) | |
5 | g.13770803C>G | CA359204369 | DNAH5 | c.9551G>C (p.Gly3184Ala) c.9506G>C (p.Gly3169Ala) n.263G>C c.9659G>C (p.Gly3220Ala) c.8564G>C (p.Gly2855Ala) c.4748G>C (p.Gly1583Ala) c.4301G>C (p.Gly1434Ala) c.3638G>C (p.Gly1213Ala) c.8153G>C (p.Gly2718Ala) | |
5 | g.13770803C>T | CA3202519 | DNAH5 | c.9551G>A (p.Gly3184Asp) c.9506G>A (p.Gly3169Asp) n.263G>A c.9659G>A (p.Gly3220Asp) c.8564G>A (p.Gly2855Asp) c.4748G>A (p.Gly1583Asp) c.4301G>A (p.Gly1434Asp) c.3638G>A (p.Gly1213Asp) c.8153G>A (p.Gly2718Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770804C>A | CA3202521 | DNAH5 | c.9550G>T (p.Gly3184Cys) c.9505G>T (p.Gly3169Cys) n.262G>T c.9658G>T (p.Gly3220Cys) c.8563G>T (p.Gly2855Cys) c.4747G>T (p.Gly1583Cys) c.4300G>T (p.Gly1434Cys) c.3637G>T (p.Gly1213Cys) c.8152G>T (p.Gly2718Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770804C= | CA1528431191 | DNAH5 | c.9550G= (p.Gly3184=) c.9505G= (p.Gly3169=) n.262G= c.9658G= (p.Gly3220=) c.8563G= (p.Gly2855=) c.4747G= (p.Gly1583=) c.4300G= (p.Gly1434=) c.3637G= (p.Gly1213=) c.8152G= (p.Gly2718=) | |
5 | g.13770804C>G | CA359204376 | DNAH5 | c.9550G>C (p.Gly3184Arg) c.9505G>C (p.Gly3169Arg) n.262G>C c.9658G>C (p.Gly3220Arg) c.8563G>C (p.Gly2855Arg) c.4747G>C (p.Gly1583Arg) c.4300G>C (p.Gly1434Arg) c.3637G>C (p.Gly1213Arg) c.8152G>C (p.Gly2718Arg) | |
5 | g.13770804C>T | CA359204379 | DNAH5 | c.9550G>A (p.Gly3184Ser) c.9505G>A (p.Gly3169Ser) n.262G>A c.9658G>A (p.Gly3220Ser) c.8563G>A (p.Gly2855Ser) c.4747G>A (p.Gly1583Ser) c.4300G>A (p.Gly1434Ser) c.3637G>A (p.Gly1213Ser) c.8152G>A (p.Gly2718Ser) | gnomAD v4 |
5 | g.13770805C>A | CA359204383 | DNAH5 | c.9549G>T (p.Gln3183His) c.9504G>T (p.Gln3168His) n.261G>T c.9657G>T (p.Gln3219His) c.8562G>T (p.Gln2854His) c.4746G>T (p.Gln1582His) c.4299G>T (p.Gln1433His) c.3636G>T (p.Gln1212His) c.8151G>T (p.Gln2717His) | |
5 | g.13770805C= | CA1528431192 | DNAH5 | c.9549G= (p.Gln3183=) c.9504G= (p.Gln3168=) n.261G= c.9657G= (p.Gln3219=) c.8562G= (p.Gln2854=) c.4746G= (p.Gln1582=) c.4299G= (p.Gln1433=) c.3636G= (p.Gln1212=) c.8151G= (p.Gln2717=) | |
5 | g.13770805C>G | CA359204386 | DNAH5 | c.9549G>C (p.Gln3183His) c.9504G>C (p.Gln3168His) n.261G>C c.9657G>C (p.Gln3219His) c.8562G>C (p.Gln2854His) c.4746G>C (p.Gln1582His) c.4299G>C (p.Gln1433His) c.3636G>C (p.Gln1212His) c.8151G>C (p.Gln2717His) | |
5 | g.13770805C>T | CA3202522 | DNAH5 | c.9549G>A (p.Gln3183=) c.9504G>A (p.Gln3168=) n.261G>A c.9657G>A (p.Gln3219=) c.8562G>A (p.Gln2854=) c.4746G>A (p.Gln1582=) c.4299G>A (p.Gln1433=) c.3636G>A (p.Gln1212=) c.8151G>A (p.Gln2717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770806T>A | CA359204392 | DNAH5 | c.9548A>T (p.Gln3183Leu) c.9503A>T (p.Gln3168Leu) n.260A>T c.9656A>T (p.Gln3219Leu) c.8561A>T (p.Gln2854Leu) c.4745A>T (p.Gln1582Leu) c.4298A>T (p.Gln1433Leu) c.3635A>T (p.Gln1212Leu) c.8150A>T (p.Gln2717Leu) | |
5 | g.13770806T>C | CA359204394 | DNAH5 | c.9548A>G (p.Gln3183Arg) c.9503A>G (p.Gln3168Arg) n.260A>G c.9656A>G (p.Gln3219Arg) c.8561A>G (p.Gln2854Arg) c.4745A>G (p.Gln1582Arg) c.4298A>G (p.Gln1433Arg) c.3635A>G (p.Gln1212Arg) c.8150A>G (p.Gln2717Arg) | |
5 | g.13770806T>G | CA359204395 | DNAH5 | c.9548A>C (p.Gln3183Pro) c.9503A>C (p.Gln3168Pro) n.260A>C c.9656A>C (p.Gln3219Pro) c.8561A>C (p.Gln2854Pro) c.4745A>C (p.Gln1582Pro) c.4298A>C (p.Gln1433Pro) c.3635A>C (p.Gln1212Pro) c.8150A>C (p.Gln2717Pro) | |
5 | g.13770807G>A | CA359204398 | DNAH5 | c.9547C>T (p.Gln3183Ter) c.9502C>T (p.Gln3168Ter) n.259C>T c.9655C>T (p.Gln3219Ter) c.8560C>T (p.Gln2854Ter) c.4744C>T (p.Gln1582Ter) c.4297C>T (p.Gln1433Ter) c.3634C>T (p.Gln1212Ter) c.8149C>T (p.Gln2717Ter) | |
5 | g.13770807G>C | CA359204400 | DNAH5 | c.9547C>G (p.Gln3183Glu) c.9502C>G (p.Gln3168Glu) n.259C>G c.9655C>G (p.Gln3219Glu) c.8560C>G (p.Gln2854Glu) c.4744C>G (p.Gln1582Glu) c.4297C>G (p.Gln1433Glu) c.3634C>G (p.Gln1212Glu) c.8149C>G (p.Gln2717Glu) | |
5 | g.13770807G>T | CA359204402 | DNAH5 | c.9547C>A (p.Gln3183Lys) c.9502C>A (p.Gln3168Lys) n.259C>A c.9655C>A (p.Gln3219Lys) c.8560C>A (p.Gln2854Lys) c.4744C>A (p.Gln1582Lys) c.4297C>A (p.Gln1433Lys) c.3634C>A (p.Gln1212Lys) c.8149C>A (p.Gln2717Lys) | |
5 | g.13770808A= | CA1528431193 | DNAH5 | c.9546T= (p.Ile3182=) c.9501T= (p.Ile3167=) n.258T= c.9654T= (p.Ile3218=) c.8559T= (p.Ile2853=) c.4743T= (p.Ile1581=) c.4296T= (p.Ile1432=) c.3633T= (p.Ile1211=) c.8148T= (p.Ile2716=) | |
5 | g.13770808A>C | CA3202523 | DNAH5 | c.9546T>G (p.Ile3182Met) c.9501T>G (p.Ile3167Met) n.258T>G c.9654T>G (p.Ile3218Met) c.8559T>G (p.Ile2853Met) c.4743T>G (p.Ile1581Met) c.4296T>G (p.Ile1432Met) c.3633T>G (p.Ile1211Met) c.8148T>G (p.Ile2716Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770808A>G | CA443535542 | DNAH5 | c.9546T>C (p.Ile3182=) c.9501T>C (p.Ile3167=) n.258T>C c.9654T>C (p.Ile3218=) c.8559T>C (p.Ile2853=) c.4743T>C (p.Ile1581=) c.4296T>C (p.Ile1432=) c.3633T>C (p.Ile1211=) c.8148T>C (p.Ile2716=) | ClinVar |
5 | g.13770808A>T | CA443535543 | DNAH5 | c.9546T>A (p.Ile3182=) c.9501T>A (p.Ile3167=) n.258T>A c.9654T>A (p.Ile3218=) c.8559T>A (p.Ile2853=) c.4743T>A (p.Ile1581=) c.4296T>A (p.Ile1432=) c.3633T>A (p.Ile1211=) c.8148T>A (p.Ile2716=) | |
5 | g.13770809A= | CA1528431194 | DNAH5 | c.9545T= (p.Ile3182=) c.9500T= (p.Ile3167=) n.257T= c.9653T= (p.Ile3218=) c.8558T= (p.Ile2853=) c.4742T= (p.Ile1581=) c.4295T= (p.Ile1432=) c.3632T= (p.Ile1211=) c.8147T= (p.Ile2716=) | |
5 | g.13770809A>C | CA359204405 | DNAH5 | c.9545T>G (p.Ile3182Ser) c.9500T>G (p.Ile3167Ser) n.257T>G c.9653T>G (p.Ile3218Ser) c.8558T>G (p.Ile2853Ser) c.4742T>G (p.Ile1581Ser) c.4295T>G (p.Ile1432Ser) c.3632T>G (p.Ile1211Ser) c.8147T>G (p.Ile2716Ser) | |
5 | g.13770809A>G | CA359204406 | DNAH5 | c.9545T>C (p.Ile3182Thr) c.9500T>C (p.Ile3167Thr) n.257T>C c.9653T>C (p.Ile3218Thr) c.8558T>C (p.Ile2853Thr) c.4742T>C (p.Ile1581Thr) c.4295T>C (p.Ile1432Thr) c.3632T>C (p.Ile1211Thr) c.8147T>C (p.Ile2716Thr) | dbSNP |
5 | g.13770809A>T | CA359204408 | DNAH5 | c.9545T>A (p.Ile3182Asn) c.9500T>A (p.Ile3167Asn) n.257T>A c.9653T>A (p.Ile3218Asn) c.8558T>A (p.Ile2853Asn) c.4742T>A (p.Ile1581Asn) c.4295T>A (p.Ile1432Asn) c.3632T>A (p.Ile1211Asn) c.8147T>A (p.Ile2716Asn) | |
5 | g.13770810del | CA2673268301 | DNAH5 | c.9544del (p.Ile3182PhefsTer22) c.9499del (p.Ile3167PhefsTer22) n.256del c.9652del (p.Ile3218PhefsTer22) c.8557del (p.Ile2853PhefsTer22) c.9652del (p.Ile3218PhefsTer?) c.4741del (p.Ile1581PhefsTer22) c.4294del (p.Ile1432PhefsTer22) c.3631del (p.Ile1211PhefsTer22) c.8146del (p.Ile2716PhefsTer22) | gnomAD v4 |
5 | g.13770810T>A | CA359204413 | DNAH5 | c.9544A>T (p.Ile3182Phe) c.9499A>T (p.Ile3167Phe) n.256A>T c.9652A>T (p.Ile3218Phe) c.8557A>T (p.Ile2853Phe) c.4741A>T (p.Ile1581Phe) c.4294A>T (p.Ile1432Phe) c.3631A>T (p.Ile1211Phe) c.8146A>T (p.Ile2716Phe) | gnomAD v4 |
5 | g.13770810T>C | CA359204412 | DNAH5 | c.9544A>G (p.Ile3182Val) c.9499A>G (p.Ile3167Val) n.256A>G c.9652A>G (p.Ile3218Val) c.8557A>G (p.Ile2853Val) c.4741A>G (p.Ile1581Val) c.4294A>G (p.Ile1432Val) c.3631A>G (p.Ile1211Val) c.8146A>G (p.Ile2716Val) | gnomAD v4 |
5 | g.13770810T>G | CA113932883 | DNAH5 | c.9544A>C (p.Ile3182Leu) c.9499A>C (p.Ile3167Leu) n.256A>C c.9652A>C (p.Ile3218Leu) c.8557A>C (p.Ile2853Leu) c.4741A>C (p.Ile1581Leu) c.4294A>C (p.Ile1432Leu) c.3631A>C (p.Ile1211Leu) c.8146A>C (p.Ile2716Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770810T= | CA1528431195 | DNAH5 | c.9544A= (p.Ile3182=) c.9499A= (p.Ile3167=) n.256A= c.9652A= (p.Ile3218=) c.8557A= (p.Ile2853=) c.4741A= (p.Ile1581=) c.4294A= (p.Ile1432=) c.3631A= (p.Ile1211=) c.8146A= (p.Ile2716=) | |
5 | g.13770811A>C | CA359204414 | DNAH5 | c.9543T>G (p.Phe3181Leu) c.9498T>G (p.Phe3166Leu) n.255T>G c.9651T>G (p.Phe3217Leu) c.8556T>G (p.Phe2852Leu) c.4740T>G (p.Phe1580Leu) c.4293T>G (p.Phe1431Leu) c.3630T>G (p.Phe1210Leu) c.8145T>G (p.Phe2715Leu) | gnomAD v4 |
5 | g.13770811A>G | CA443535544 | DNAH5 | c.9543T>C (p.Phe3181=) c.9498T>C (p.Phe3166=) n.255T>C c.9651T>C (p.Phe3217=) c.8556T>C (p.Phe2852=) c.4740T>C (p.Phe1580=) c.4293T>C (p.Phe1431=) c.3630T>C (p.Phe1210=) c.8145T>C (p.Phe2715=) | ClinVar dbSNP |
5 | g.13770811A>T | CA359204415 | DNAH5 | c.9543T>A (p.Phe3181Leu) c.9498T>A (p.Phe3166Leu) n.255T>A c.9651T>A (p.Phe3217Leu) c.8556T>A (p.Phe2852Leu) c.4740T>A (p.Phe1580Leu) c.4293T>A (p.Phe1431Leu) c.3630T>A (p.Phe1210Leu) c.8145T>A (p.Phe2715Leu) | |
5 | g.13770812A>C | CA359204416 | DNAH5 | c.9542T>G (p.Phe3181Cys) c.9497T>G (p.Phe3166Cys) n.254T>G c.9650T>G (p.Phe3217Cys) c.8555T>G (p.Phe2852Cys) c.4739T>G (p.Phe1580Cys) c.4292T>G (p.Phe1431Cys) c.3629T>G (p.Phe1210Cys) c.8144T>G (p.Phe2715Cys) | |
5 | g.13770812A>G | CA359204418 | DNAH5 | c.9542T>C (p.Phe3181Ser) c.9497T>C (p.Phe3166Ser) n.254T>C c.9650T>C (p.Phe3217Ser) c.8555T>C (p.Phe2852Ser) c.4739T>C (p.Phe1580Ser) c.4292T>C (p.Phe1431Ser) c.3629T>C (p.Phe1210Ser) c.8144T>C (p.Phe2715Ser) | |
5 | g.13770812A>T | CA359204419 | DNAH5 | c.9542T>A (p.Phe3181Tyr) c.9497T>A (p.Phe3166Tyr) n.254T>A c.9650T>A (p.Phe3217Tyr) c.8555T>A (p.Phe2852Tyr) c.4739T>A (p.Phe1580Tyr) c.4292T>A (p.Phe1431Tyr) c.3629T>A (p.Phe1210Tyr) c.8144T>A (p.Phe2715Tyr) | |
5 | g.13770813A>C | CA359204426 | DNAH5 | c.9541T>G (p.Phe3181Val) c.9496T>G (p.Phe3166Val) n.253T>G c.9649T>G (p.Phe3217Val) c.8554T>G (p.Phe2852Val) c.4738T>G (p.Phe1580Val) c.4291T>G (p.Phe1431Val) c.3628T>G (p.Phe1210Val) c.8143T>G (p.Phe2715Val) | |
5 | g.13770813A>G | CA359204425 | DNAH5 | c.9541T>C (p.Phe3181Leu) c.9496T>C (p.Phe3166Leu) n.253T>C c.9649T>C (p.Phe3217Leu) c.8554T>C (p.Phe2852Leu) c.4738T>C (p.Phe1580Leu) c.4291T>C (p.Phe1431Leu) c.3628T>C (p.Phe1210Leu) c.8143T>C (p.Phe2715Leu) | |
5 | g.13770813A>T | CA359204420 | DNAH5 | c.9541T>A (p.Phe3181Ile) c.9496T>A (p.Phe3166Ile) n.253T>A c.9649T>A (p.Phe3217Ile) c.8554T>A (p.Phe2852Ile) c.4738T>A (p.Phe1580Ile) c.4291T>A (p.Phe1431Ile) c.3628T>A (p.Phe1210Ile) c.8143T>A (p.Phe2715Ile) | |
5 | g.13770814G>A | CA443535546 | DNAH5 | c.9540C>T (p.Ser3180=) c.9495C>T (p.Ser3165=) n.252C>T c.9648C>T (p.Ser3216=) c.8553C>T (p.Ser2851=) c.4737C>T (p.Ser1579=) c.4290C>T (p.Ser1430=) c.3627C>T (p.Ser1209=) c.8142C>T (p.Ser2714=) | |
5 | g.13770814G>C | CA443535547 | DNAH5 | c.9540C>G (p.Ser3180=) c.9495C>G (p.Ser3165=) n.252C>G c.9648C>G (p.Ser3216=) c.8553C>G (p.Ser2851=) c.4737C>G (p.Ser1579=) c.4290C>G (p.Ser1430=) c.3627C>G (p.Ser1209=) c.8142C>G (p.Ser2714=) | |
5 | g.13770814G>T | CA443535548 | DNAH5 | c.9540C>A (p.Ser3180=) c.9495C>A (p.Ser3165=) n.252C>A c.9648C>A (p.Ser3216=) c.8553C>A (p.Ser2851=) c.4737C>A (p.Ser1579=) c.4290C>A (p.Ser1430=) c.3627C>A (p.Ser1209=) c.8142C>A (p.Ser2714=) | |
5 | g.13770815del | CA2499217610 | DNAH5 | c.9540del (p.Phe3181LeufsTer23) c.9495del (p.Phe3166LeufsTer23) n.252del c.9648del (p.Phe3217LeufsTer23) c.8553del (p.Phe2852LeufsTer23) c.9648del (p.Phe3217LeufsTer?) c.4737del (p.Phe1580LeufsTer23) c.4290del (p.Phe1431LeufsTer23) c.3627del (p.Phe1210LeufsTer23) c.8142del (p.Phe2715LeufsTer23) | ClinVar dbSNP |
5 | g.13770815G>A | CA359204429 | DNAH5 | c.9539C>T (p.Ser3180Phe) c.9494C>T (p.Ser3165Phe) n.251C>T c.9647C>T (p.Ser3216Phe) c.8552C>T (p.Ser2851Phe) c.4736C>T (p.Ser1579Phe) c.4289C>T (p.Ser1430Phe) c.3626C>T (p.Ser1209Phe) c.8141C>T (p.Ser2714Phe) | gnomAD v4 |
5 | g.13770815G>C | CA359204430 | DNAH5 | c.9539C>G (p.Ser3180Cys) c.9494C>G (p.Ser3165Cys) n.251C>G c.9647C>G (p.Ser3216Cys) c.8552C>G (p.Ser2851Cys) c.4736C>G (p.Ser1579Cys) c.4289C>G (p.Ser1430Cys) c.3626C>G (p.Ser1209Cys) c.8141C>G (p.Ser2714Cys) | |
5 | g.13770815G>T | CA359204432 | DNAH5 | c.9539C>A (p.Ser3180Tyr) c.9494C>A (p.Ser3165Tyr) n.251C>A c.9647C>A (p.Ser3216Tyr) c.8552C>A (p.Ser2851Tyr) c.4736C>A (p.Ser1579Tyr) c.4289C>A (p.Ser1430Tyr) c.3626C>A (p.Ser1209Tyr) c.8141C>A (p.Ser2714Tyr) | |
5 | g.13770815_13770816delinsAG | CA2580072361 | DNAH5 | c.9538_9539delinsCT (p.Ser3180Leu) c.9493_9494delinsCT (p.Ser3165Leu) n.250_251delinsCT c.9646_9647delinsCT (p.Ser3216Leu) c.8551_8552delinsCT (p.Ser2851Leu) c.4735_4736delinsCT (p.Ser1579Leu) c.4288_4289delinsCT (p.Ser1430Leu) c.3625_3626delinsCT (p.Ser1209Leu) c.8140_8141delinsCT (p.Ser2714Leu) | ClinVar |
5 | g.13770816A= | CA1528431196 | DNAH5 | c.9538T= (p.Ser3180=) c.9493T= (p.Ser3165=) n.250T= c.9646T= (p.Ser3216=) c.8551T= (p.Ser2851=) c.4735T= (p.Ser1579=) c.4288T= (p.Ser1430=) c.3625T= (p.Ser1209=) c.8140T= (p.Ser2714=) | |
5 | g.13770816A>C | CA359204434 | DNAH5 | c.9538T>G (p.Ser3180Ala) c.9493T>G (p.Ser3165Ala) n.250T>G c.9646T>G (p.Ser3216Ala) c.8551T>G (p.Ser2851Ala) c.4735T>G (p.Ser1579Ala) c.4288T>G (p.Ser1430Ala) c.3625T>G (p.Ser1209Ala) c.8140T>G (p.Ser2714Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770816A>G | CA113932891 | DNAH5 | c.9538T>C (p.Ser3180Pro) c.9493T>C (p.Ser3165Pro) n.250T>C c.9646T>C (p.Ser3216Pro) c.8551T>C (p.Ser2851Pro) c.4735T>C (p.Ser1579Pro) c.4288T>C (p.Ser1430Pro) c.3625T>C (p.Ser1209Pro) c.8140T>C (p.Ser2714Pro) | dbSNP gnomAD v4 |
5 | g.13770816A>T | CA359204437 | DNAH5 | c.9538T>A (p.Ser3180Thr) c.9493T>A (p.Ser3165Thr) n.250T>A c.9646T>A (p.Ser3216Thr) c.8551T>A (p.Ser2851Thr) c.4735T>A (p.Ser1579Thr) c.4288T>A (p.Ser1430Thr) c.3625T>A (p.Ser1209Thr) c.8140T>A (p.Ser2714Thr) | |
5 | g.13770817G>A | CA443535552 | DNAH5 | c.9537C>T (p.Leu3179=) c.9492C>T (p.Leu3164=) n.249C>T c.9645C>T (p.Leu3215=) c.8550C>T (p.Leu2850=) c.4734C>T (p.Leu1578=) c.4287C>T (p.Leu1429=) c.3624C>T (p.Leu1208=) c.8139C>T (p.Leu2713=) | |
5 | g.13770817G>C | CA443535553 | DNAH5 | c.9537C>G (p.Leu3179=) c.9492C>G (p.Leu3164=) n.249C>G c.9645C>G (p.Leu3215=) c.8550C>G (p.Leu2850=) c.4734C>G (p.Leu1578=) c.4287C>G (p.Leu1429=) c.3624C>G (p.Leu1208=) c.8139C>G (p.Leu2713=) | |
5 | g.13770817G>T | CA443535554 | DNAH5 | c.9537C>A (p.Leu3179=) c.9492C>A (p.Leu3164=) n.249C>A c.9645C>A (p.Leu3215=) c.8550C>A (p.Leu2850=) c.4734C>A (p.Leu1578=) c.4287C>A (p.Leu1429=) c.3624C>A (p.Leu1208=) c.8139C>A (p.Leu2713=) | |
5 | g.13770818A>C | CA359204441 | DNAH5 | c.9536T>G (p.Leu3179Arg) c.9491T>G (p.Leu3164Arg) n.248T>G c.9644T>G (p.Leu3215Arg) c.8549T>G (p.Leu2850Arg) c.4733T>G (p.Leu1578Arg) c.4286T>G (p.Leu1429Arg) c.3623T>G (p.Leu1208Arg) c.8138T>G (p.Leu2713Arg) | |
5 | g.13770818A>G | CA359204452 | DNAH5 | c.9536T>C (p.Leu3179Pro) c.9491T>C (p.Leu3164Pro) n.248T>C c.9644T>C (p.Leu3215Pro) c.8549T>C (p.Leu2850Pro) c.4733T>C (p.Leu1578Pro) c.4286T>C (p.Leu1429Pro) c.3623T>C (p.Leu1208Pro) c.8138T>C (p.Leu2713Pro) | |
5 | g.13770818A>T | CA359204449 | DNAH5 | c.9536T>A (p.Leu3179His) c.9491T>A (p.Leu3164His) n.248T>A c.9644T>A (p.Leu3215His) c.8549T>A (p.Leu2850His) c.4733T>A (p.Leu1578His) c.4286T>A (p.Leu1429His) c.3623T>A (p.Leu1208His) c.8138T>A (p.Leu2713His) | |
5 | g.13770819G>A | CA359204455 | DNAH5 | c.9535C>T (p.Leu3179Phe) c.9490C>T (p.Leu3164Phe) n.247C>T c.9643C>T (p.Leu3215Phe) c.8548C>T (p.Leu2850Phe) c.4732C>T (p.Leu1578Phe) c.4285C>T (p.Leu1429Phe) c.3622C>T (p.Leu1208Phe) c.8137C>T (p.Leu2713Phe) | dbSNP COSMIC |
5 | g.13770819G>C | CA359204456 | DNAH5 | c.9535C>G (p.Leu3179Val) c.9490C>G (p.Leu3164Val) n.247C>G c.9643C>G (p.Leu3215Val) c.8548C>G (p.Leu2850Val) c.4732C>G (p.Leu1578Val) c.4285C>G (p.Leu1429Val) c.3622C>G (p.Leu1208Val) c.8137C>G (p.Leu2713Val) | gnomAD v4 |
5 | g.13770819G= | CA1528431197 | DNAH5 | c.9535C= (p.Leu3179=) c.9490C= (p.Leu3164=) n.247C= c.9643C= (p.Leu3215=) c.8548C= (p.Leu2850=) c.4732C= (p.Leu1578=) c.4285C= (p.Leu1429=) c.3622C= (p.Leu1208=) c.8137C= (p.Leu2713=) | |
5 | g.13770819G>T | CA359204457 | DNAH5 | c.9535C>A (p.Leu3179Ile) c.9490C>A (p.Leu3164Ile) n.247C>A c.9643C>A (p.Leu3215Ile) c.8548C>A (p.Leu2850Ile) c.4732C>A (p.Leu1578Ile) c.4285C>A (p.Leu1429Ile) c.3622C>A (p.Leu1208Ile) c.8137C>A (p.Leu2713Ile) | |
5 | g.13770820G>A | CA443535558 | DNAH5 | c.9534C>T (p.Tyr3178=) c.9489C>T (p.Tyr3163=) n.246C>T c.9642C>T (p.Tyr3214=) c.8547C>T (p.Tyr2849=) c.4731C>T (p.Tyr1577=) c.4284C>T (p.Tyr1428=) c.3621C>T (p.Tyr1207=) c.8136C>T (p.Tyr2712=) | COSMIC |
5 | g.13770820G>C | CA359204461 | DNAH5 | c.9534C>G (p.Tyr3178Ter) c.9489C>G (p.Tyr3163Ter) n.246C>G c.9642C>G (p.Tyr3214Ter) c.8547C>G (p.Tyr2849Ter) c.4731C>G (p.Tyr1577Ter) c.4284C>G (p.Tyr1428Ter) c.3621C>G (p.Tyr1207Ter) c.8136C>G (p.Tyr2712Ter) | |
5 | g.13770820G= | CA1528431198 | DNAH5 | c.9534C= (p.Tyr3178=) c.9489C= (p.Tyr3163=) n.246C= c.9642C= (p.Tyr3214=) c.8547C= (p.Tyr2849=) c.4731C= (p.Tyr1577=) c.4284C= (p.Tyr1428=) c.3621C= (p.Tyr1207=) c.8136C= (p.Tyr2712=) | |
5 | g.13770820G>T | CA359204463 | DNAH5 | c.9534C>A (p.Tyr3178Ter) c.9489C>A (p.Tyr3163Ter) n.246C>A c.9642C>A (p.Tyr3214Ter) c.8547C>A (p.Tyr2849Ter) c.4731C>A (p.Tyr1577Ter) c.4284C>A (p.Tyr1428Ter) c.3621C>A (p.Tyr1207Ter) c.8136C>A (p.Tyr2712Ter) | ClinVar dbSNP |
5 | g.13770821T>A | CA359204466 | DNAH5 | c.9533A>T (p.Tyr3178Phe) c.9488A>T (p.Tyr3163Phe) n.245A>T c.9641A>T (p.Tyr3214Phe) c.8546A>T (p.Tyr2849Phe) c.4730A>T (p.Tyr1577Phe) c.4283A>T (p.Tyr1428Phe) c.3620A>T (p.Tyr1207Phe) c.8135A>T (p.Tyr2712Phe) | |
5 | g.13770821T>C | CA359204468 | DNAH5 | c.9533A>G (p.Tyr3178Cys) c.9488A>G (p.Tyr3163Cys) n.245A>G c.9641A>G (p.Tyr3214Cys) c.8546A>G (p.Tyr2849Cys) c.4730A>G (p.Tyr1577Cys) c.4283A>G (p.Tyr1428Cys) c.3620A>G (p.Tyr1207Cys) c.8135A>G (p.Tyr2712Cys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770821T>G | CA359204471 | DNAH5 | c.9533A>C (p.Tyr3178Ser) c.9488A>C (p.Tyr3163Ser) n.245A>C c.9641A>C (p.Tyr3214Ser) c.8546A>C (p.Tyr2849Ser) c.4730A>C (p.Tyr1577Ser) c.4283A>C (p.Tyr1428Ser) c.3620A>C (p.Tyr1207Ser) c.8135A>C (p.Tyr2712Ser) | |
5 | g.13770821T= | CA1528431199 | DNAH5 | c.9533A= (p.Tyr3178=) c.9488A= (p.Tyr3163=) n.245A= c.9641A= (p.Tyr3214=) c.8546A= (p.Tyr2849=) c.4730A= (p.Tyr1577=) c.4283A= (p.Tyr1428=) c.3620A= (p.Tyr1207=) c.8135A= (p.Tyr2712=) | |
5 | g.13770822A>C | CA359204475 | DNAH5 | c.9532T>G (p.Tyr3178Asp) c.9487T>G (p.Tyr3163Asp) n.244T>G c.9640T>G (p.Tyr3214Asp) c.8545T>G (p.Tyr2849Asp) c.4729T>G (p.Tyr1577Asp) c.4282T>G (p.Tyr1428Asp) c.3619T>G (p.Tyr1207Asp) c.8134T>G (p.Tyr2712Asp) | |
5 | g.13770822A>G | CA359204477 | DNAH5 | c.9532T>C (p.Tyr3178His) c.9487T>C (p.Tyr3163His) n.244T>C c.9640T>C (p.Tyr3214His) c.8545T>C (p.Tyr2849His) c.4729T>C (p.Tyr1577His) c.4282T>C (p.Tyr1428His) c.3619T>C (p.Tyr1207His) c.8134T>C (p.Tyr2712His) | gnomAD v4 |
5 | g.13770822A>T | CA359204478 | DNAH5 | c.9532T>A (p.Tyr3178Asn) c.9487T>A (p.Tyr3163Asn) n.244T>A c.9640T>A (p.Tyr3214Asn) c.8545T>A (p.Tyr2849Asn) c.4729T>A (p.Tyr1577Asn) c.4282T>A (p.Tyr1428Asn) c.3619T>A (p.Tyr1207Asn) c.8134T>A (p.Tyr2712Asn) | |
5 | g.13770822dup | CA3202524 | DNAH5 | c.9532dup (p.Tyr3178LeufsTer9) c.9487dup (p.Tyr3163LeufsTer9) n.244dup c.9640dup (p.Tyr3214LeufsTer9) c.8545dup (p.Tyr2849LeufsTer9) c.4729dup (p.Tyr1577LeufsTer9) c.4282dup (p.Tyr1428LeufsTer9) c.3619dup (p.Tyr1207LeufsTer9) c.8134dup (p.Tyr2712LeufsTer9) | dbSNP ExAC gnomAD v2 |
5 | g.13770823T>A | CA443535563 | DNAH5 | c.9531A>T (p.Ser3177=) c.9486A>T (p.Ser3162=) n.243A>T c.9639A>T (p.Ser3213=) c.8544A>T (p.Ser2848=) c.4728A>T (p.Ser1576=) c.4281A>T (p.Ser1427=) c.3618A>T (p.Ser1206=) c.8133A>T (p.Ser2711=) | gnomAD v4 |
5 | g.13770823T>C | CA3202525 | DNAH5 | c.9531A>G (p.Ser3177=) c.9486A>G (p.Ser3162=) n.243A>G c.9639A>G (p.Ser3213=) c.8544A>G (p.Ser2848=) c.4728A>G (p.Ser1576=) c.4281A>G (p.Ser1427=) c.3618A>G (p.Ser1206=) c.8133A>G (p.Ser2711=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770823T>G | CA443535564 | DNAH5 | c.9531A>C (p.Ser3177=) c.9486A>C (p.Ser3162=) n.243A>C c.9639A>C (p.Ser3213=) c.8544A>C (p.Ser2848=) c.4728A>C (p.Ser1576=) c.4281A>C (p.Ser1427=) c.3618A>C (p.Ser1206=) c.8133A>C (p.Ser2711=) | |
5 | g.13770823T= | CA1528431200 | DNAH5 | c.9531A= (p.Ser3177=) c.9486A= (p.Ser3162=) n.243A= c.9639A= (p.Ser3213=) c.8544A= (p.Ser2848=) c.4728A= (p.Ser1576=) c.4281A= (p.Ser1427=) c.3618A= (p.Ser1206=) c.8133A= (p.Ser2711=) | |
5 | g.13770824G>A | CA359204485 | DNAH5 | c.9530C>T (p.Ser3177Leu) c.9485C>T (p.Ser3162Leu) n.242C>T c.9638C>T (p.Ser3213Leu) c.8543C>T (p.Ser2848Leu) c.4727C>T (p.Ser1576Leu) c.4280C>T (p.Ser1427Leu) c.3617C>T (p.Ser1206Leu) c.8132C>T (p.Ser2711Leu) | COSMIC |
5 | g.13770824G>C | CA359204481 | DNAH5 | c.9530C>G (p.Ser3177Ter) c.9485C>G (p.Ser3162Ter) n.242C>G c.9638C>G (p.Ser3213Ter) c.8543C>G (p.Ser2848Ter) c.4727C>G (p.Ser1576Ter) c.4280C>G (p.Ser1427Ter) c.3617C>G (p.Ser1206Ter) c.8132C>G (p.Ser2711Ter) | |
5 | g.13770824G>T | CA359204487 | DNAH5 | c.9530C>A (p.Ser3177Ter) c.9485C>A (p.Ser3162Ter) n.242C>A c.9638C>A (p.Ser3213Ter) c.8543C>A (p.Ser2848Ter) c.4727C>A (p.Ser1576Ter) c.4280C>A (p.Ser1427Ter) c.3617C>A (p.Ser1206Ter) c.8132C>A (p.Ser2711Ter) | ClinVar gnomAD v4 |
5 | g.13770825A>C | CA359204491 | DNAH5 | c.9529T>G (p.Ser3177Ala) c.9484T>G (p.Ser3162Ala) n.241T>G c.9637T>G (p.Ser3213Ala) c.8542T>G (p.Ser2848Ala) c.4726T>G (p.Ser1576Ala) c.4279T>G (p.Ser1427Ala) c.3616T>G (p.Ser1206Ala) c.8131T>G (p.Ser2711Ala) | |
5 | g.13770825A>G | CA359204496 | DNAH5 | c.9529T>C (p.Ser3177Pro) c.9484T>C (p.Ser3162Pro) n.241T>C c.9637T>C (p.Ser3213Pro) c.8542T>C (p.Ser2848Pro) c.4726T>C (p.Ser1576Pro) c.4279T>C (p.Ser1427Pro) c.3616T>C (p.Ser1206Pro) c.8131T>C (p.Ser2711Pro) | |
5 | g.13770825A>T | CA359204494 | DNAH5 | c.9529T>A (p.Ser3177Thr) c.9484T>A (p.Ser3162Thr) n.241T>A c.9637T>A (p.Ser3213Thr) c.8542T>A (p.Ser2848Thr) c.4726T>A (p.Ser1576Thr) c.4279T>A (p.Ser1427Thr) c.3616T>A (p.Ser1206Thr) c.8131T>A (p.Ser2711Thr) | |
5 | g.13770826T>A | CA359204498 | DNAH5 | c.9528A>T (p.Lys3176Asn) c.9483A>T (p.Lys3161Asn) n.240A>T c.9636A>T (p.Lys3212Asn) c.8541A>T (p.Lys2847Asn) c.4725A>T (p.Lys1575Asn) c.4278A>T (p.Lys1426Asn) c.3615A>T (p.Lys1205Asn) c.8130A>T (p.Lys2710Asn) | |
5 | g.13770826T>C | CA443535566 | DNAH5 | c.9528A>G (p.Lys3176=) c.9483A>G (p.Lys3161=) n.240A>G c.9636A>G (p.Lys3212=) c.8541A>G (p.Lys2847=) c.4725A>G (p.Lys1575=) c.4278A>G (p.Lys1426=) c.3615A>G (p.Lys1205=) c.8130A>G (p.Lys2710=) | |
5 | g.13770826T>G | CA359204501 | DNAH5 | c.9528A>C (p.Lys3176Asn) c.9483A>C (p.Lys3161Asn) n.240A>C c.9636A>C (p.Lys3212Asn) c.8541A>C (p.Lys2847Asn) c.4725A>C (p.Lys1575Asn) c.4278A>C (p.Lys1426Asn) c.3615A>C (p.Lys1205Asn) c.8130A>C (p.Lys2710Asn) | |
5 | g.13770827T>A | CA359204502 | DNAH5 | c.9527A>T (p.Lys3176Ile) c.9482A>T (p.Lys3161Ile) n.239A>T c.9635A>T (p.Lys3212Ile) c.8540A>T (p.Lys2847Ile) c.4724A>T (p.Lys1575Ile) c.4277A>T (p.Lys1426Ile) c.3614A>T (p.Lys1205Ile) c.8129A>T (p.Lys2710Ile) | |
5 | g.13770827T>C | CA359204505 | DNAH5 | c.9527A>G (p.Lys3176Arg) c.9482A>G (p.Lys3161Arg) n.239A>G c.9635A>G (p.Lys3212Arg) c.8540A>G (p.Lys2847Arg) c.4724A>G (p.Lys1575Arg) c.4277A>G (p.Lys1426Arg) c.3614A>G (p.Lys1205Arg) c.8129A>G (p.Lys2710Arg) | |
5 | g.13770827T>G | CA359204507 | DNAH5 | c.9527A>C (p.Lys3176Thr) c.9482A>C (p.Lys3161Thr) n.239A>C c.9635A>C (p.Lys3212Thr) c.8540A>C (p.Lys2847Thr) c.4724A>C (p.Lys1575Thr) c.4277A>C (p.Lys1426Thr) c.3614A>C (p.Lys1205Thr) c.8129A>C (p.Lys2710Thr) | |
5 | g.13770828T>A | CA359204510 | DNAH5 | c.9526A>T (p.Lys3176Ter) c.9481A>T (p.Lys3161Ter) n.238A>T c.9634A>T (p.Lys3212Ter) c.8539A>T (p.Lys2847Ter) c.4723A>T (p.Lys1575Ter) c.4276A>T (p.Lys1426Ter) c.3613A>T (p.Lys1205Ter) c.8128A>T (p.Lys2710Ter) | |
5 | g.13770828T>C | CA359204512 | DNAH5 | c.9526A>G (p.Lys3176Glu) c.9481A>G (p.Lys3161Glu) n.238A>G c.9634A>G (p.Lys3212Glu) c.8539A>G (p.Lys2847Glu) c.4723A>G (p.Lys1575Glu) c.4276A>G (p.Lys1426Glu) c.3613A>G (p.Lys1205Glu) c.8128A>G (p.Lys2710Glu) | |
5 | g.13770828T>G | CA359204515 | DNAH5 | c.9526A>C (p.Lys3176Gln) c.9481A>C (p.Lys3161Gln) n.238A>C c.9634A>C (p.Lys3212Gln) c.8539A>C (p.Lys2847Gln) c.4723A>C (p.Lys1575Gln) c.4276A>C (p.Lys1426Gln) c.3613A>C (p.Lys1205Gln) c.8128A>C (p.Lys2710Gln) | |
5 | g.13770829G>A | CA113932908 | DNAH5 | c.9525C>T (p.Pro3175=) c.9480C>T (p.Pro3160=) n.237C>T c.9633C>T (p.Pro3211=) c.8538C>T (p.Pro2846=) c.4722C>T (p.Pro1574=) c.4275C>T (p.Pro1425=) c.3612C>T (p.Pro1204=) c.8127C>T (p.Pro2709=) | dbSNP |
5 | g.13770829G>C | CA443535570 | DNAH5 | c.9525C>G (p.Pro3175=) c.9480C>G (p.Pro3160=) n.237C>G c.9633C>G (p.Pro3211=) c.8538C>G (p.Pro2846=) c.4722C>G (p.Pro1574=) c.4275C>G (p.Pro1425=) c.3612C>G (p.Pro1204=) c.8127C>G (p.Pro2709=) | |
5 | g.13770829G= | CA1528431201 | DNAH5 | c.9525C= (p.Pro3175=) c.9480C= (p.Pro3160=) n.237C= c.9633C= (p.Pro3211=) c.8538C= (p.Pro2846=) c.4722C= (p.Pro1574=) c.4275C= (p.Pro1425=) c.3612C= (p.Pro1204=) c.8127C= (p.Pro2709=) | |
5 | g.13770829G>T | CA443535571 | DNAH5 | c.9525C>A (p.Pro3175=) c.9480C>A (p.Pro3160=) n.237C>A c.9633C>A (p.Pro3211=) c.8538C>A (p.Pro2846=) c.4722C>A (p.Pro1574=) c.4275C>A (p.Pro1425=) c.3612C>A (p.Pro1204=) c.8127C>A (p.Pro2709=) | |
5 | g.13770830_13770831dup | CA2765348512 | DNAH5 | c.9524_9525dup (p.Lys3176ProfsTer29) c.9479_9480dup (p.Lys3161ProfsTer29) n.236_237dup c.9632_9633dup (p.Lys3212ProfsTer29) c.8537_8538dup (p.Lys2847ProfsTer29) c.9632_9633dup (p.Lys3212ProfsTer?) c.4721_4722dup (p.Lys1575ProfsTer29) c.4274_4275dup (p.Lys1426ProfsTer29) c.3611_3612dup (p.Lys1205ProfsTer29) c.8126_8127dup (p.Lys2710ProfsTer29) | |
5 | g.13770830G>A | CA359204518 | DNAH5 | c.9524C>T (p.Pro3175Leu) c.9479C>T (p.Pro3160Leu) n.236C>T c.9632C>T (p.Pro3211Leu) c.8537C>T (p.Pro2846Leu) c.4721C>T (p.Pro1574Leu) c.4274C>T (p.Pro1425Leu) c.3611C>T (p.Pro1204Leu) c.8126C>T (p.Pro2709Leu) | |
5 | g.13770830G>C | CA359204521 | DNAH5 | c.9524C>G (p.Pro3175Arg) c.9479C>G (p.Pro3160Arg) n.236C>G c.9632C>G (p.Pro3211Arg) c.8537C>G (p.Pro2846Arg) c.4721C>G (p.Pro1574Arg) c.4274C>G (p.Pro1425Arg) c.3611C>G (p.Pro1204Arg) c.8126C>G (p.Pro2709Arg) | |
5 | g.13770830G>T | CA359204523 | DNAH5 | c.9524C>A (p.Pro3175His) c.9479C>A (p.Pro3160His) n.236C>A c.9632C>A (p.Pro3211His) c.8537C>A (p.Pro2846His) c.4721C>A (p.Pro1574His) c.4274C>A (p.Pro1425His) c.3611C>A (p.Pro1204His) c.8126C>A (p.Pro2709His) | |
5 | g.13770831G>A | CA359204531 | DNAH5 | c.9523C>T (p.Pro3175Ser) c.9478C>T (p.Pro3160Ser) n.235C>T c.9631C>T (p.Pro3211Ser) c.8536C>T (p.Pro2846Ser) c.4720C>T (p.Pro1574Ser) c.4273C>T (p.Pro1425Ser) c.3610C>T (p.Pro1204Ser) c.8125C>T (p.Pro2709Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770831G>C | CA359204525 | DNAH5 | c.9523C>G (p.Pro3175Ala) c.9478C>G (p.Pro3160Ala) n.235C>G c.9631C>G (p.Pro3211Ala) c.8536C>G (p.Pro2846Ala) c.4720C>G (p.Pro1574Ala) c.4273C>G (p.Pro1425Ala) c.3610C>G (p.Pro1204Ala) c.8125C>G (p.Pro2709Ala) | |
5 | g.13770831G= | CA1528431202 | DNAH5 | c.9523C= (p.Pro3175=) c.9478C= (p.Pro3160=) n.235C= c.9631C= (p.Pro3211=) c.8536C= (p.Pro2846=) c.4720C= (p.Pro1574=) c.4273C= (p.Pro1425=) c.3610C= (p.Pro1204=) c.8125C= (p.Pro2709=) | |
5 | g.13770831G>T | CA359204528 | DNAH5 | c.9523C>A (p.Pro3175Thr) c.9478C>A (p.Pro3160Thr) n.235C>A c.9631C>A (p.Pro3211Thr) c.8536C>A (p.Pro2846Thr) c.4720C>A (p.Pro1574Thr) c.4273C>A (p.Pro1425Thr) c.3610C>A (p.Pro1204Thr) c.8125C>A (p.Pro2709Thr) | gnomAD v4 |
5 | g.13770832C>A | CA443535573 | DNAH5 | c.9522G>T (p.Thr3174=) c.9477G>T (p.Thr3159=) n.234G>T c.9630G>T (p.Thr3210=) c.8535G>T (p.Thr2845=) c.4719G>T (p.Thr1573=) c.4272G>T (p.Thr1424=) c.3609G>T (p.Thr1203=) c.8124G>T (p.Thr2708=) | ClinVar dbSNP gnomAD v4 |
5 | g.13770832C= | CA1528431203 | DNAH5 | c.9522G= (p.Thr3174=) c.9477G= (p.Thr3159=) n.234G= c.9630G= (p.Thr3210=) c.8535G= (p.Thr2845=) c.4719G= (p.Thr1573=) c.4272G= (p.Thr1424=) c.3609G= (p.Thr1203=) c.8124G= (p.Thr2708=) | |
5 | g.13770832C>G | CA443535574 | DNAH5 | c.9522G>C (p.Thr3174=) c.9477G>C (p.Thr3159=) n.234G>C c.9630G>C (p.Thr3210=) c.8535G>C (p.Thr2845=) c.4719G>C (p.Thr1573=) c.4272G>C (p.Thr1424=) c.3609G>C (p.Thr1203=) c.8124G>C (p.Thr2708=) | |
5 | g.13770832C>T | CA3202526 | DNAH5 | c.9522G>A (p.Thr3174=) c.9477G>A (p.Thr3159=) n.234G>A c.9630G>A (p.Thr3210=) c.8535G>A (p.Thr2845=) c.4719G>A (p.Thr1573=) c.4272G>A (p.Thr1424=) c.3609G>A (p.Thr1203=) c.8124G>A (p.Thr2708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770833G>A | CA3202527 | DNAH5 | c.9521C>T (p.Thr3174Met) c.9476C>T (p.Thr3159Met) n.233C>T c.9629C>T (p.Thr3210Met) c.8534C>T (p.Thr2845Met) c.4718C>T (p.Thr1573Met) c.4271C>T (p.Thr1424Met) c.3608C>T (p.Thr1203Met) c.8123C>T (p.Thr2708Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770833G>C | CA359204539 | DNAH5 | c.9521C>G (p.Thr3174Arg) c.9476C>G (p.Thr3159Arg) n.233C>G c.9629C>G (p.Thr3210Arg) c.8534C>G (p.Thr2845Arg) c.4718C>G (p.Thr1573Arg) c.4271C>G (p.Thr1424Arg) c.3608C>G (p.Thr1203Arg) c.8123C>G (p.Thr2708Arg) | |
5 | g.13770833G= | CA1528431204 | DNAH5 | c.9521C= (p.Thr3174=) c.9476C= (p.Thr3159=) n.233C= c.9629C= (p.Thr3210=) c.8534C= (p.Thr2845=) c.4718C= (p.Thr1573=) c.4271C= (p.Thr1424=) c.3608C= (p.Thr1203=) c.8123C= (p.Thr2708=) | |
5 | g.13770833G>T | CA359204541 | DNAH5 | c.9521C>A (p.Thr3174Lys) c.9476C>A (p.Thr3159Lys) n.233C>A c.9629C>A (p.Thr3210Lys) c.8534C>A (p.Thr2845Lys) c.4718C>A (p.Thr1573Lys) c.4271C>A (p.Thr1424Lys) c.3608C>A (p.Thr1203Lys) c.8123C>A (p.Thr2708Lys) | |
5 | g.13770834T>A | CA359204543 | DNAH5 | c.9520A>T (p.Thr3174Ser) c.9475A>T (p.Thr3159Ser) n.232A>T c.9628A>T (p.Thr3210Ser) c.8533A>T (p.Thr2845Ser) c.4717A>T (p.Thr1573Ser) c.4270A>T (p.Thr1424Ser) c.3607A>T (p.Thr1203Ser) c.8122A>T (p.Thr2708Ser) | |
5 | g.13770834T>C | CA359204544 | DNAH5 | c.9520A>G (p.Thr3174Ala) c.9475A>G (p.Thr3159Ala) n.232A>G c.9628A>G (p.Thr3210Ala) c.8533A>G (p.Thr2845Ala) c.4717A>G (p.Thr1573Ala) c.4270A>G (p.Thr1424Ala) c.3607A>G (p.Thr1203Ala) c.8122A>G (p.Thr2708Ala) | |
5 | g.13770834T>G | CA359204546 | DNAH5 | c.9520A>C (p.Thr3174Pro) c.9475A>C (p.Thr3159Pro) n.232A>C c.9628A>C (p.Thr3210Pro) c.8533A>C (p.Thr2845Pro) c.4717A>C (p.Thr1573Pro) c.4270A>C (p.Thr1424Pro) c.3607A>C (p.Thr1203Pro) c.8122A>C (p.Thr2708Pro) | |
5 | g.13770835del | CA2673268302 | DNAH5 | c.9519del (p.Thr3174ArgfsTer?) c.9474del (p.Thr3159ArgfsTer?) n.231del c.9627del (p.Thr3210ArgfsTer?) c.8532del (p.Thr2845ArgfsTer?) c.4716del (p.Thr1573ArgfsTer?) c.4269del (p.Thr1424ArgfsTer?) c.3606del (p.Thr1203ArgfsTer?) c.8121del (p.Thr2708ArgfsTer?) | gnomAD v4 |
5 | g.13770835C>A | CA443535575 | DNAH5 | c.9519G>T (p.Val3173=) c.9474G>T (p.Val3158=) n.231G>T c.9627G>T (p.Val3209=) c.8532G>T (p.Val2844=) c.4716G>T (p.Val1572=) c.4269G>T (p.Val1423=) c.3606G>T (p.Val1202=) c.8121G>T (p.Val2707=) | |
5 | g.13770835C>G | CA443535576 | DNAH5 | c.9519G>C (p.Val3173=) c.9474G>C (p.Val3158=) n.231G>C c.9627G>C (p.Val3209=) c.8532G>C (p.Val2844=) c.4716G>C (p.Val1572=) c.4269G>C (p.Val1423=) c.3606G>C (p.Val1202=) c.8121G>C (p.Val2707=) | |
5 | g.13770835C>T | CA443535577 | DNAH5 | c.9519G>A (p.Val3173=) c.9474G>A (p.Val3158=) n.231G>A c.9627G>A (p.Val3209=) c.8532G>A (p.Val2844=) c.4716G>A (p.Val1572=) c.4269G>A (p.Val1423=) c.3606G>A (p.Val1202=) c.8121G>A (p.Val2707=) | gnomAD v4 |
5 | g.13770836A>C | CA359204549 | DNAH5 | c.9518T>G (p.Val3173Gly) c.9473T>G (p.Val3158Gly) n.230T>G c.9626T>G (p.Val3209Gly) c.8531T>G (p.Val2844Gly) c.4715T>G (p.Val1572Gly) c.4268T>G (p.Val1423Gly) c.3605T>G (p.Val1202Gly) c.8120T>G (p.Val2707Gly) | |
5 | g.13770836A>G | CA359204551 | DNAH5 | c.9518T>C (p.Val3173Ala) c.9473T>C (p.Val3158Ala) n.230T>C c.9626T>C (p.Val3209Ala) c.8531T>C (p.Val2844Ala) c.4715T>C (p.Val1572Ala) c.4268T>C (p.Val1423Ala) c.3605T>C (p.Val1202Ala) c.8120T>C (p.Val2707Ala) | |
5 | g.13770836A>T | CA359204554 | DNAH5 | c.9518T>A (p.Val3173Glu) c.9473T>A (p.Val3158Glu) n.230T>A c.9626T>A (p.Val3209Glu) c.8531T>A (p.Val2844Glu) c.4715T>A (p.Val1572Glu) c.4268T>A (p.Val1423Glu) c.3605T>A (p.Val1202Glu) c.8120T>A (p.Val2707Glu) | gnomAD v4 |
5 | g.13770837C>A | CA113932931 | DNAH5 | c.9517G>T (p.Val3173Leu) c.9472G>T (p.Val3158Leu) n.229G>T c.9625G>T (p.Val3209Leu) c.8530G>T (p.Val2844Leu) c.4714G>T (p.Val1572Leu) c.4267G>T (p.Val1423Leu) c.3604G>T (p.Val1202Leu) c.8119G>T (p.Val2707Leu) | dbSNP gnomAD v4 |
5 | g.13770837C= | CA1528431205 | DNAH5 | c.9517G= (p.Val3173=) c.9472G= (p.Val3158=) n.229G= c.9625G= (p.Val3209=) c.8530G= (p.Val2844=) c.4714G= (p.Val1572=) c.4267G= (p.Val1423=) c.3604G= (p.Val1202=) c.8119G= (p.Val2707=) | |
5 | g.13770837C>G | CA359204560 | DNAH5 | c.9517G>C (p.Val3173Leu) c.9472G>C (p.Val3158Leu) n.229G>C c.9625G>C (p.Val3209Leu) c.8530G>C (p.Val2844Leu) c.4714G>C (p.Val1572Leu) c.4267G>C (p.Val1423Leu) c.3604G>C (p.Val1202Leu) c.8119G>C (p.Val2707Leu) | |
5 | g.13770837C>T | CA3202528 | DNAH5 | c.9517G>A (p.Val3173Met) c.9472G>A (p.Val3158Met) n.229G>A c.9625G>A (p.Val3209Met) c.8530G>A (p.Val2844Met) c.4714G>A (p.Val1572Met) c.4267G>A (p.Val1423Met) c.3604G>A (p.Val1202Met) c.8119G>A (p.Val2707Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770838G>A | CA443535579 | DNAH5 | c.9516C>T (p.His3172=) c.9471C>T (p.His3157=) n.228C>T c.9624C>T (p.His3208=) c.8529C>T (p.His2843=) c.4713C>T (p.His1571=) c.4266C>T (p.His1422=) c.3603C>T (p.His1201=) c.8118C>T (p.His2706=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770838G>C | CA359204562 | DNAH5 | c.9516C>G (p.His3172Gln) c.9471C>G (p.His3157Gln) n.228C>G c.9624C>G (p.His3208Gln) c.8529C>G (p.His2843Gln) c.4713C>G (p.His1571Gln) c.4266C>G (p.His1422Gln) c.3603C>G (p.His1201Gln) c.8118C>G (p.His2706Gln) | |
5 | g.13770838G= | CA1528431206 | DNAH5 | c.9516C= (p.His3172=) c.9471C= (p.His3157=) n.228C= c.9624C= (p.His3208=) c.8529C= (p.His2843=) c.4713C= (p.His1571=) c.4266C= (p.His1422=) c.3603C= (p.His1201=) c.8118C= (p.His2706=) | |
5 | g.13770838G>T | CA359204565 | DNAH5 | c.9516C>A (p.His3172Gln) c.9471C>A (p.His3157Gln) n.228C>A c.9624C>A (p.His3208Gln) c.8529C>A (p.His2843Gln) c.4713C>A (p.His1571Gln) c.4266C>A (p.His1422Gln) c.3603C>A (p.His1201Gln) c.8118C>A (p.His2706Gln) | |
5 | g.13770839T>A | CA359204568 | DNAH5 | c.9515A>T (p.His3172Leu) c.9470A>T (p.His3157Leu) n.227A>T c.9623A>T (p.His3208Leu) c.8528A>T (p.His2843Leu) c.4712A>T (p.His1571Leu) c.4265A>T (p.His1422Leu) c.3602A>T (p.His1201Leu) c.8117A>T (p.His2706Leu) | |
5 | g.13770839T>C | CA359204570 | DNAH5 | c.9515A>G (p.His3172Arg) c.9470A>G (p.His3157Arg) n.227A>G c.9623A>G (p.His3208Arg) c.8528A>G (p.His2843Arg) c.4712A>G (p.His1571Arg) c.4265A>G (p.His1422Arg) c.3602A>G (p.His1201Arg) c.8117A>G (p.His2706Arg) | |
5 | g.13770839T>G | CA3202529 | DNAH5 | c.9515A>C (p.His3172Pro) c.9470A>C (p.His3157Pro) n.227A>C c.9623A>C (p.His3208Pro) c.8528A>C (p.His2843Pro) c.4712A>C (p.His1571Pro) c.4265A>C (p.His1422Pro) c.3602A>C (p.His1201Pro) c.8117A>C (p.His2706Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770839T= | CA1528431207 | DNAH5 | c.9515A= (p.His3172=) c.9470A= (p.His3157=) n.227A= c.9623A= (p.His3208=) c.8528A= (p.His2843=) c.4712A= (p.His1571=) c.4265A= (p.His1422=) c.3602A= (p.His1201=) c.8117A= (p.His2706=) | |
5 | g.13770840G>A | CA359204578 | DNAH5 | c.9514C>T (p.His3172Tyr) c.9469C>T (p.His3157Tyr) n.226C>T c.9622C>T (p.His3208Tyr) c.8527C>T (p.His2843Tyr) c.4711C>T (p.His1571Tyr) c.4264C>T (p.His1422Tyr) c.3601C>T (p.His1201Tyr) c.8116C>T (p.His2706Tyr) | |
5 | g.13770840G>C | CA3202530 | DNAH5 | c.9514C>G (p.His3172Asp) c.9469C>G (p.His3157Asp) n.226C>G c.9622C>G (p.His3208Asp) c.8527C>G (p.His2843Asp) c.4711C>G (p.His1571Asp) c.4264C>G (p.His1422Asp) c.3601C>G (p.His1201Asp) c.8116C>G (p.His2706Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770840G= | CA1528431208 | DNAH5 | c.9514C= (p.His3172=) c.9469C= (p.His3157=) n.226C= c.9622C= (p.His3208=) c.8527C= (p.His2843=) c.4711C= (p.His1571=) c.4264C= (p.His1422=) c.3601C= (p.His1201=) c.8116C= (p.His2706=) | |
5 | g.13770840G>T | CA359204574 | DNAH5 | c.9514C>A (p.His3172Asn) c.9469C>A (p.His3157Asn) n.226C>A c.9622C>A (p.His3208Asn) c.8527C>A (p.His2843Asn) c.4711C>A (p.His1571Asn) c.4264C>A (p.His1422Asn) c.3601C>A (p.His1201Asn) c.8116C>A (p.His2706Asn) | |
5 | g.13770842dup | CA557876482 | DNAH5 | c.9514dup (p.His3172ProfsTer15) c.9469dup (p.His3157ProfsTer15) n.226dup c.9622dup (p.His3208ProfsTer15) c.8527dup (p.His2843ProfsTer15) c.4711dup (p.His1571ProfsTer15) c.4264dup (p.His1422ProfsTer15) c.3601dup (p.His1201ProfsTer15) c.8116dup (p.His2706ProfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770841G>A | CA443535581 | DNAH5 | c.9513C>T (p.Thr3171=) c.9468C>T (p.Thr3156=) n.225C>T c.9621C>T (p.Thr3207=) c.8526C>T (p.Thr2842=) c.4710C>T (p.Thr1570=) c.4263C>T (p.Thr1421=) c.3600C>T (p.Thr1200=) c.8115C>T (p.Thr2705=) | |
5 | g.13770841G>C | CA443535583 | DNAH5 | c.9513C>G (p.Thr3171=) c.9468C>G (p.Thr3156=) n.225C>G c.9621C>G (p.Thr3207=) c.8526C>G (p.Thr2842=) c.4710C>G (p.Thr1570=) c.4263C>G (p.Thr1421=) c.3600C>G (p.Thr1200=) c.8115C>G (p.Thr2705=) | |
5 | g.13770841G>T | CA443535582 | DNAH5 | c.9513C>A (p.Thr3171=) c.9468C>A (p.Thr3156=) n.225C>A c.9621C>A (p.Thr3207=) c.8526C>A (p.Thr2842=) c.4710C>A (p.Thr1570=) c.4263C>A (p.Thr1421=) c.3600C>A (p.Thr1200=) c.8115C>A (p.Thr2705=) | |
5 | g.13770842G>A | CA359204580 | DNAH5 | c.9512C>T (p.Thr3171Ile) c.9467C>T (p.Thr3156Ile) n.224C>T c.9620C>T (p.Thr3207Ile) c.8525C>T (p.Thr2842Ile) c.4709C>T (p.Thr1570Ile) c.4262C>T (p.Thr1421Ile) c.3599C>T (p.Thr1200Ile) c.8114C>T (p.Thr2705Ile) | gnomAD v4 |
5 | g.13770842G>C | CA359204582 | DNAH5 | c.9512C>G (p.Thr3171Ser) c.9467C>G (p.Thr3156Ser) n.224C>G c.9620C>G (p.Thr3207Ser) c.8525C>G (p.Thr2842Ser) c.4709C>G (p.Thr1570Ser) c.4262C>G (p.Thr1421Ser) c.3599C>G (p.Thr1200Ser) c.8114C>G (p.Thr2705Ser) | |
5 | g.13770842G>T | CA359204583 | DNAH5 | c.9512C>A (p.Thr3171Asn) c.9467C>A (p.Thr3156Asn) n.224C>A c.9620C>A (p.Thr3207Asn) c.8525C>A (p.Thr2842Asn) c.4709C>A (p.Thr1570Asn) c.4262C>A (p.Thr1421Asn) c.3599C>A (p.Thr1200Asn) c.8114C>A (p.Thr2705Asn) | |
5 | g.13770843T>A | CA3202531 | DNAH5 | c.9511A>T (p.Thr3171Ser) c.9466A>T (p.Thr3156Ser) n.223A>T c.9619A>T (p.Thr3207Ser) c.8524A>T (p.Thr2842Ser) c.4708A>T (p.Thr1570Ser) c.4261A>T (p.Thr1421Ser) c.3598A>T (p.Thr1200Ser) c.8113A>T (p.Thr2705Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770843T>C | CA3202532 | DNAH5 | c.9511A>G (p.Thr3171Ala) c.9466A>G (p.Thr3156Ala) n.223A>G c.9619A>G (p.Thr3207Ala) c.8524A>G (p.Thr2842Ala) c.4708A>G (p.Thr1570Ala) c.4261A>G (p.Thr1421Ala) c.3598A>G (p.Thr1200Ala) c.8113A>G (p.Thr2705Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770843T>G | CA359204589 | DNAH5 | c.9511A>C (p.Thr3171Pro) c.9466A>C (p.Thr3156Pro) n.223A>C c.9619A>C (p.Thr3207Pro) c.8524A>C (p.Thr2842Pro) c.4708A>C (p.Thr1570Pro) c.4261A>C (p.Thr1421Pro) c.3598A>C (p.Thr1200Pro) c.8113A>C (p.Thr2705Pro) | ClinVar dbSNP |
5 | g.13770843T= | CA1528431209 | DNAH5 | c.9511A= (p.Thr3171=) c.9466A= (p.Thr3156=) n.223A= c.9619A= (p.Thr3207=) c.8524A= (p.Thr2842=) c.4708A= (p.Thr1570=) c.4261A= (p.Thr1421=) c.3598A= (p.Thr1200=) c.8113A= (p.Thr2705=) | |
5 | g.13770844A>C | CA443535584 | DNAH5 | c.9510T>G (p.Ser3170=) c.9465T>G (p.Ser3155=) n.222T>G c.9618T>G (p.Ser3206=) c.8523T>G (p.Ser2841=) c.4707T>G (p.Ser1569=) c.4260T>G (p.Ser1420=) c.3597T>G (p.Ser1199=) c.8112T>G (p.Ser2704=) | |
5 | g.13770844A>G | CA443535585 | DNAH5 | c.9510T>C (p.Ser3170=) c.9465T>C (p.Ser3155=) n.222T>C c.9618T>C (p.Ser3206=) c.8523T>C (p.Ser2841=) c.4707T>C (p.Ser1569=) c.4260T>C (p.Ser1420=) c.3597T>C (p.Ser1199=) c.8112T>C (p.Ser2704=) | |
5 | g.13770844A>T | CA443535586 | DNAH5 | c.9510T>A (p.Ser3170=) c.9465T>A (p.Ser3155=) n.222T>A c.9618T>A (p.Ser3206=) c.8523T>A (p.Ser2841=) c.4707T>A (p.Ser1569=) c.4260T>A (p.Ser1420=) c.3597T>A (p.Ser1199=) c.8112T>A (p.Ser2704=) | |
5 | g.13770845G>A | CA359204592 | DNAH5 | c.9509C>T (p.Ser3170Phe) c.9464C>T (p.Ser3155Phe) n.221C>T c.9617C>T (p.Ser3206Phe) c.8522C>T (p.Ser2841Phe) c.4706C>T (p.Ser1569Phe) c.4259C>T (p.Ser1420Phe) c.3596C>T (p.Ser1199Phe) c.8111C>T (p.Ser2704Phe) | |
5 | g.13770845G>C | CA359204596 | DNAH5 | c.9509C>G (p.Ser3170Cys) c.9464C>G (p.Ser3155Cys) n.221C>G c.9617C>G (p.Ser3206Cys) c.8522C>G (p.Ser2841Cys) c.4706C>G (p.Ser1569Cys) c.4259C>G (p.Ser1420Cys) c.3596C>G (p.Ser1199Cys) c.8111C>G (p.Ser2704Cys) | |
5 | g.13770845G>T | CA359204594 | DNAH5 | c.9509C>A (p.Ser3170Tyr) c.9464C>A (p.Ser3155Tyr) n.221C>A c.9617C>A (p.Ser3206Tyr) c.8522C>A (p.Ser2841Tyr) c.4706C>A (p.Ser1569Tyr) c.4259C>A (p.Ser1420Tyr) c.3596C>A (p.Ser1199Tyr) c.8111C>A (p.Ser2704Tyr) | |
5 | g.13770846A>C | CA359204597 | DNAH5 | c.9508T>G (p.Ser3170Ala) c.9463T>G (p.Ser3155Ala) n.220T>G c.9616T>G (p.Ser3206Ala) c.8521T>G (p.Ser2841Ala) c.4705T>G (p.Ser1569Ala) c.4258T>G (p.Ser1420Ala) c.3595T>G (p.Ser1199Ala) c.8110T>G (p.Ser2704Ala) | |
5 | g.13770846A>G | CA359204600 | DNAH5 | c.9508T>C (p.Ser3170Pro) c.9463T>C (p.Ser3155Pro) n.220T>C c.9616T>C (p.Ser3206Pro) c.8521T>C (p.Ser2841Pro) c.4705T>C (p.Ser1569Pro) c.4258T>C (p.Ser1420Pro) c.3595T>C (p.Ser1199Pro) c.8110T>C (p.Ser2704Pro) | |
5 | g.13770846A>T | CA359204602 | DNAH5 | c.9508T>A (p.Ser3170Thr) c.9463T>A (p.Ser3155Thr) n.220T>A c.9616T>A (p.Ser3206Thr) c.8521T>A (p.Ser2841Thr) c.4705T>A (p.Ser1569Thr) c.4258T>A (p.Ser1420Thr) c.3595T>A (p.Ser1199Thr) c.8110T>A (p.Ser2704Thr) | |
5 | g.13770847A>C | CA443535589 | DNAH5 | c.9507T>G (p.Arg3169=) c.9462T>G (p.Arg3154=) n.219T>G c.9615T>G (p.Arg3205=) c.8520T>G (p.Arg2840=) c.4704T>G (p.Arg1568=) c.4257T>G (p.Arg1419=) c.3594T>G (p.Arg1198=) c.8109T>G (p.Arg2703=) | |
5 | g.13770847A>G | CA443535590 | DNAH5 | c.9507T>C (p.Arg3169=) c.9462T>C (p.Arg3154=) n.219T>C c.9615T>C (p.Arg3205=) c.8520T>C (p.Arg2840=) c.4704T>C (p.Arg1568=) c.4257T>C (p.Arg1419=) c.3594T>C (p.Arg1198=) c.8109T>C (p.Arg2703=) | |
5 | g.13770847A>T | CA443535591 | DNAH5 | c.9507T>A (p.Arg3169=) c.9462T>A (p.Arg3154=) n.219T>A c.9615T>A (p.Arg3205=) c.8520T>A (p.Arg2840=) c.4704T>A (p.Arg1568=) c.4257T>A (p.Arg1419=) c.3594T>A (p.Arg1198=) c.8109T>A (p.Arg2703=) | |
5 | g.13770848C>A | CA359204604 | DNAH5 | c.9506G>T (p.Arg3169Leu) c.9461G>T (p.Arg3154Leu) n.218G>T c.9614G>T (p.Arg3205Leu) c.8519G>T (p.Arg2840Leu) c.4703G>T (p.Arg1568Leu) c.4256G>T (p.Arg1419Leu) c.3593G>T (p.Arg1198Leu) c.8108G>T (p.Arg2703Leu) | |
5 | g.13770848C= | CA1528431210 | DNAH5 | c.9506G= (p.Arg3169=) c.9461G= (p.Arg3154=) n.218G= c.9614G= (p.Arg3205=) c.8519G= (p.Arg2840=) c.4703G= (p.Arg1568=) c.4256G= (p.Arg1419=) c.3593G= (p.Arg1198=) c.8108G= (p.Arg2703=) | |
5 | g.13770848C>G | CA359204606 | DNAH5 | c.9506G>C (p.Arg3169Pro) c.9461G>C (p.Arg3154Pro) n.218G>C c.9614G>C (p.Arg3205Pro) c.8519G>C (p.Arg2840Pro) c.4703G>C (p.Arg1568Pro) c.4256G>C (p.Arg1419Pro) c.3593G>C (p.Arg1198Pro) c.8108G>C (p.Arg2703Pro) | |
5 | g.13770848C>T | CA359204608 | DNAH5 | c.9506G>A (p.Arg3169His) c.9461G>A (p.Arg3154His) n.218G>A c.9614G>A (p.Arg3205His) c.8519G>A (p.Arg2840His) c.4703G>A (p.Arg1568His) c.4256G>A (p.Arg1419His) c.3593G>A (p.Arg1198His) c.8108G>A (p.Arg2703His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |