Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13770851C>A | CA359204615 | DNAH5 | c.9503G>T (p.Arg3168Leu) c.9458G>T (p.Arg3153Leu) n.215G>T c.9611G>T (p.Arg3204Leu) c.8516G>T (p.Arg2839Leu) c.4700G>T (p.Arg1567Leu) c.4253G>T (p.Arg1418Leu) c.3590G>T (p.Arg1197Leu) c.8105G>T (p.Arg2702Leu) | |
5 | g.13770851C= | CA1528431212 | DNAH5 | c.9503G= (p.Arg3168=) c.9458G= (p.Arg3153=) n.215G= c.9611G= (p.Arg3204=) c.8516G= (p.Arg2839=) c.4700G= (p.Arg1567=) c.4253G= (p.Arg1418=) c.3590G= (p.Arg1197=) c.8105G= (p.Arg2702=) | |
5 | g.13770851C>G | CA359204617 | DNAH5 | c.9503G>C (p.Arg3168Pro) c.9458G>C (p.Arg3153Pro) n.215G>C c.9611G>C (p.Arg3204Pro) c.8516G>C (p.Arg2839Pro) c.4700G>C (p.Arg1567Pro) c.4253G>C (p.Arg1418Pro) c.3590G>C (p.Arg1197Pro) c.8105G>C (p.Arg2702Pro) | COSMIC |
5 | g.13770851C>T | CA3202535 | DNAH5 | c.9503G>A (p.Arg3168Gln) c.9458G>A (p.Arg3153Gln) n.215G>A c.9611G>A (p.Arg3204Gln) c.8516G>A (p.Arg2839Gln) c.4700G>A (p.Arg1567Gln) c.4253G>A (p.Arg1418Gln) c.3590G>A (p.Arg1197Gln) c.8105G>A (p.Arg2702Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770852G>A | CA338247 | DNAH5 | c.9502C>T (p.Arg3168Ter) c.9457C>T (p.Arg3153Ter) n.214C>T c.9610C>T (p.Arg3204Ter) c.8515C>T (p.Arg2839Ter) c.4699C>T (p.Arg1567Ter) c.4252C>T (p.Arg1418Ter) c.3589C>T (p.Arg1197Ter) c.8104C>T (p.Arg2702Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770852G>C | CA359204618 | DNAH5 | c.9502C>G (p.Arg3168Gly) c.9457C>G (p.Arg3153Gly) n.214C>G c.9610C>G (p.Arg3204Gly) c.8515C>G (p.Arg2839Gly) c.4699C>G (p.Arg1567Gly) c.4252C>G (p.Arg1418Gly) c.3589C>G (p.Arg1197Gly) c.8104C>G (p.Arg2702Gly) | |
5 | g.13770852G= | CA1528431213 | DNAH5 | c.9502C= (p.Arg3168=) c.9457C= (p.Arg3153=) n.214C= c.9610C= (p.Arg3204=) c.8515C= (p.Arg2839=) c.4699C= (p.Arg1567=) c.4252C= (p.Arg1418=) c.3589C= (p.Arg1197=) c.8104C= (p.Arg2702=) | |
5 | g.13770852G>T | CA443535601 | DNAH5 | c.9502C>A (p.Arg3168=) c.9457C>A (p.Arg3153=) n.214C>A c.9610C>A (p.Arg3204=) c.8515C>A (p.Arg2839=) c.4699C>A (p.Arg1567=) c.4252C>A (p.Arg1418=) c.3589C>A (p.Arg1197=) c.8104C>A (p.Arg2702=) | |
5 | g.13770853G>A | CA443535602 | DNAH5 | c.9501C>T (p.Phe3167=) c.9456C>T (p.Phe3152=) n.213C>T c.9609C>T (p.Phe3203=) c.8514C>T (p.Phe2838=) c.4698C>T (p.Phe1566=) c.4251C>T (p.Phe1417=) c.3588C>T (p.Phe1196=) c.8103C>T (p.Phe2701=) | |
5 | g.13770853G>C | CA359204619 | DNAH5 | c.9501C>G (p.Phe3167Leu) c.9456C>G (p.Phe3152Leu) n.213C>G c.9609C>G (p.Phe3203Leu) c.8514C>G (p.Phe2838Leu) c.4698C>G (p.Phe1566Leu) c.4251C>G (p.Phe1417Leu) c.3588C>G (p.Phe1196Leu) c.8103C>G (p.Phe2701Leu) | |
5 | g.13770853G>T | CA359204621 | DNAH5 | c.9501C>A (p.Phe3167Leu) c.9456C>A (p.Phe3152Leu) n.213C>A c.9609C>A (p.Phe3203Leu) c.8514C>A (p.Phe2838Leu) c.4698C>A (p.Phe1566Leu) c.4251C>A (p.Phe1417Leu) c.3588C>A (p.Phe1196Leu) c.8103C>A (p.Phe2701Leu) | |
5 | g.13770854A>C | CA359204622 | DNAH5 | c.9500T>G (p.Phe3167Cys) c.9455T>G (p.Phe3152Cys) n.212T>G c.9608T>G (p.Phe3203Cys) c.8513T>G (p.Phe2838Cys) c.4697T>G (p.Phe1566Cys) c.4250T>G (p.Phe1417Cys) c.3587T>G (p.Phe1196Cys) c.8102T>G (p.Phe2701Cys) | |
5 | g.13770854A>G | CA359204623 | DNAH5 | c.9500T>C (p.Phe3167Ser) c.9455T>C (p.Phe3152Ser) n.212T>C c.9608T>C (p.Phe3203Ser) c.8513T>C (p.Phe2838Ser) c.4697T>C (p.Phe1566Ser) c.4250T>C (p.Phe1417Ser) c.3587T>C (p.Phe1196Ser) c.8102T>C (p.Phe2701Ser) | |
5 | g.13770854A>T | CA359204625 | DNAH5 | c.9500T>A (p.Phe3167Tyr) c.9455T>A (p.Phe3152Tyr) n.212T>A c.9608T>A (p.Phe3203Tyr) c.8513T>A (p.Phe2838Tyr) c.4697T>A (p.Phe1566Tyr) c.4250T>A (p.Phe1417Tyr) c.3587T>A (p.Phe1196Tyr) c.8102T>A (p.Phe2701Tyr) | |
5 | g.13770855A>C | CA359204628 | DNAH5 | c.9499T>G (p.Phe3167Val) c.9454T>G (p.Phe3152Val) n.211T>G c.9607T>G (p.Phe3203Val) c.8512T>G (p.Phe2838Val) c.4696T>G (p.Phe1566Val) c.4249T>G (p.Phe1417Val) c.3586T>G (p.Phe1196Val) c.8101T>G (p.Phe2701Val) | |
5 | g.13770855A>G | CA359204629 | DNAH5 | c.9499T>C (p.Phe3167Leu) c.9454T>C (p.Phe3152Leu) n.211T>C c.9607T>C (p.Phe3203Leu) c.8512T>C (p.Phe2838Leu) c.4696T>C (p.Phe1566Leu) c.4249T>C (p.Phe1417Leu) c.3586T>C (p.Phe1196Leu) c.8101T>C (p.Phe2701Leu) | |
5 | g.13770855A>T | CA359204632 | DNAH5 | c.9499T>A (p.Phe3167Ile) c.9454T>A (p.Phe3152Ile) n.211T>A c.9607T>A (p.Phe3203Ile) c.8512T>A (p.Phe2838Ile) c.4696T>A (p.Phe1566Ile) c.4249T>A (p.Phe1417Ile) c.3586T>A (p.Phe1196Ile) c.8101T>A (p.Phe2701Ile) | |
5 | g.13770856T>A | CA359204634 | DNAH5 | c.9498A>T (p.Arg3166Ser) c.9453A>T (p.Arg3151Ser) n.210A>T c.9606A>T (p.Arg3202Ser) c.8511A>T (p.Arg2837Ser) c.4695A>T (p.Arg1565Ser) c.4248A>T (p.Arg1416Ser) c.3585A>T (p.Arg1195Ser) c.8100A>T (p.Arg2700Ser) | |
5 | g.13770856T>C | CA443535607 | DNAH5 | c.9498A>G (p.Arg3166=) c.9453A>G (p.Arg3151=) n.210A>G c.9606A>G (p.Arg3202=) c.8511A>G (p.Arg2837=) c.4695A>G (p.Arg1565=) c.4248A>G (p.Arg1416=) c.3585A>G (p.Arg1195=) c.8100A>G (p.Arg2700=) | |
5 | g.13770856T>G | CA359204636 | DNAH5 | c.9498A>C (p.Arg3166Ser) c.9453A>C (p.Arg3151Ser) n.210A>C c.9606A>C (p.Arg3202Ser) c.8511A>C (p.Arg2837Ser) c.4695A>C (p.Arg1565Ser) c.4248A>C (p.Arg1416Ser) c.3585A>C (p.Arg1195Ser) c.8100A>C (p.Arg2700Ser) | |
5 | g.13770857C>A | CA359204638 | DNAH5 | c.9497G>T (p.Arg3166Ile) c.9452G>T (p.Arg3151Ile) n.209G>T c.9605G>T (p.Arg3202Ile) c.8510G>T (p.Arg2837Ile) c.4694G>T (p.Arg1565Ile) c.4247G>T (p.Arg1416Ile) c.3584G>T (p.Arg1195Ile) c.8099G>T (p.Arg2700Ile) | |
5 | g.13770857C>G | CA359204640 | DNAH5 | c.9497G>C (p.Arg3166Thr) c.9452G>C (p.Arg3151Thr) n.209G>C c.9605G>C (p.Arg3202Thr) c.8510G>C (p.Arg2837Thr) c.4694G>C (p.Arg1565Thr) c.4247G>C (p.Arg1416Thr) c.3584G>C (p.Arg1195Thr) c.8099G>C (p.Arg2700Thr) | |
5 | g.13770857C>T | CA359204643 | DNAH5 | c.9497G>A (p.Arg3166Lys) c.9452G>A (p.Arg3151Lys) n.209G>A c.9605G>A (p.Arg3202Lys) c.8510G>A (p.Arg2837Lys) c.4694G>A (p.Arg1565Lys) c.4247G>A (p.Arg1416Lys) c.3584G>A (p.Arg1195Lys) c.8099G>A (p.Arg2700Lys) | gnomAD v4 |
5 | g.13770858T>A | CA359204645 | DNAH5 | c.9496A>T (p.Arg3166Ter) c.9451A>T (p.Arg3151Ter) n.208A>T c.9604A>T (p.Arg3202Ter) c.8509A>T (p.Arg2837Ter) c.4693A>T (p.Arg1565Ter) c.4246A>T (p.Arg1416Ter) c.3583A>T (p.Arg1195Ter) c.8098A>T (p.Arg2700Ter) | |
5 | g.13770858T>C | CA359204647 | DNAH5 | c.9496A>G (p.Arg3166Gly) c.9451A>G (p.Arg3151Gly) n.208A>G c.9604A>G (p.Arg3202Gly) c.8509A>G (p.Arg2837Gly) c.4693A>G (p.Arg1565Gly) c.4246A>G (p.Arg1416Gly) c.3583A>G (p.Arg1195Gly) c.8098A>G (p.Arg2700Gly) | COSMIC |
5 | g.13770858T>G | CA443535608 | DNAH5 | c.9496A>C (p.Arg3166=) c.9451A>C (p.Arg3151=) n.208A>C c.9604A>C (p.Arg3202=) c.8509A>C (p.Arg2837=) c.4693A>C (p.Arg1565=) c.4246A>C (p.Arg1416=) c.3583A>C (p.Arg1195=) c.8098A>C (p.Arg2700=) | |
5 | g.13770859C>A | CA359204650 | DNAH5 | c.9495G>T (p.Gln3165His) c.9450G>T (p.Gln3150His) n.207G>T c.9603G>T (p.Gln3201His) c.8508G>T (p.Gln2836His) c.4692G>T (p.Gln1564His) c.4245G>T (p.Gln1415His) c.3582G>T (p.Gln1194His) c.8097G>T (p.Gln2699His) | |
5 | g.13770859C>G | CA359204652 | DNAH5 | c.9495G>C (p.Gln3165His) c.9450G>C (p.Gln3150His) n.207G>C c.9603G>C (p.Gln3201His) c.8508G>C (p.Gln2836His) c.4692G>C (p.Gln1564His) c.4245G>C (p.Gln1415His) c.3582G>C (p.Gln1194His) c.8097G>C (p.Gln2699His) | |
5 | g.13770859C>T | CA443535612 | DNAH5 | c.9495G>A (p.Gln3165=) c.9450G>A (p.Gln3150=) n.207G>A c.9603G>A (p.Gln3201=) c.8508G>A (p.Gln2836=) c.4692G>A (p.Gln1564=) c.4245G>A (p.Gln1415=) c.3582G>A (p.Gln1194=) c.8097G>A (p.Gln2699=) | |
5 | g.13770860T>A | CA359204656 | DNAH5 | c.9494A>T (p.Gln3165Leu) c.9449A>T (p.Gln3150Leu) n.206A>T c.9602A>T (p.Gln3201Leu) c.8507A>T (p.Gln2836Leu) c.4691A>T (p.Gln1564Leu) c.4244A>T (p.Gln1415Leu) c.3581A>T (p.Gln1194Leu) c.8096A>T (p.Gln2699Leu) | COSMIC |
5 | g.13770860T>C | CA359204658 | DNAH5 | c.9494A>G (p.Gln3165Arg) c.9449A>G (p.Gln3150Arg) n.206A>G c.9602A>G (p.Gln3201Arg) c.8507A>G (p.Gln2836Arg) c.4691A>G (p.Gln1564Arg) c.4244A>G (p.Gln1415Arg) c.3581A>G (p.Gln1194Arg) c.8096A>G (p.Gln2699Arg) | |
5 | g.13770860T>G | CA359204662 | DNAH5 | c.9494A>C (p.Gln3165Pro) c.9449A>C (p.Gln3150Pro) n.206A>C c.9602A>C (p.Gln3201Pro) c.8507A>C (p.Gln2836Pro) c.4691A>C (p.Gln1564Pro) c.4244A>C (p.Gln1415Pro) c.3581A>C (p.Gln1194Pro) c.8096A>C (p.Gln2699Pro) | |
5 | g.13770861G>A | CA359204667 | DNAH5 | c.9493C>T (p.Gln3165Ter) c.9448C>T (p.Gln3150Ter) n.205C>T c.9601C>T (p.Gln3201Ter) c.8506C>T (p.Gln2836Ter) c.4690C>T (p.Gln1564Ter) c.4243C>T (p.Gln1415Ter) c.3580C>T (p.Gln1194Ter) c.8095C>T (p.Gln2699Ter) | COSMIC |
5 | g.13770861G>C | CA359204670 | DNAH5 | c.9493C>G (p.Gln3165Glu) c.9448C>G (p.Gln3150Glu) n.205C>G c.9601C>G (p.Gln3201Glu) c.8506C>G (p.Gln2836Glu) c.4690C>G (p.Gln1564Glu) c.4243C>G (p.Gln1415Glu) c.3580C>G (p.Gln1194Glu) c.8095C>G (p.Gln2699Glu) | |
5 | g.13770861G>T | CA359204673 | DNAH5 | c.9493C>A (p.Gln3165Lys) c.9448C>A (p.Gln3150Lys) n.205C>A c.9601C>A (p.Gln3201Lys) c.8506C>A (p.Gln2836Lys) c.4690C>A (p.Gln1564Lys) c.4243C>A (p.Gln1415Lys) c.3580C>A (p.Gln1194Lys) c.8095C>A (p.Gln2699Lys) | |
5 | g.13770862A>C | CA359204678 | DNAH5 | c.9492T>G (p.Phe3164Leu) c.9447T>G (p.Phe3149Leu) n.204T>G c.9600T>G (p.Phe3200Leu) c.8505T>G (p.Phe2835Leu) c.4689T>G (p.Phe1563Leu) c.4242T>G (p.Phe1414Leu) c.3579T>G (p.Phe1193Leu) c.8094T>G (p.Phe2698Leu) | |
5 | g.13770862A>G | CA443535617 | DNAH5 | c.9492T>C (p.Phe3164=) c.9447T>C (p.Phe3149=) n.204T>C c.9600T>C (p.Phe3200=) c.8505T>C (p.Phe2835=) c.4689T>C (p.Phe1563=) c.4242T>C (p.Phe1414=) c.3579T>C (p.Phe1193=) c.8094T>C (p.Phe2698=) | |
5 | g.13770862A>T | CA359204681 | DNAH5 | c.9492T>A (p.Phe3164Leu) c.9447T>A (p.Phe3149Leu) n.204T>A c.9600T>A (p.Phe3200Leu) c.8505T>A (p.Phe2835Leu) c.4689T>A (p.Phe1563Leu) c.4242T>A (p.Phe1414Leu) c.3579T>A (p.Phe1193Leu) c.8094T>A (p.Phe2698Leu) | |
5 | g.13770863A>C | CA359204682 | DNAH5 | c.9491T>G (p.Phe3164Cys) c.9446T>G (p.Phe3149Cys) n.203T>G c.9599T>G (p.Phe3200Cys) c.8504T>G (p.Phe2835Cys) c.4688T>G (p.Phe1563Cys) c.4241T>G (p.Phe1414Cys) c.3578T>G (p.Phe1193Cys) c.8093T>G (p.Phe2698Cys) | |
5 | g.13770863A>G | CA359204685 | DNAH5 | c.9491T>C (p.Phe3164Ser) c.9446T>C (p.Phe3149Ser) n.203T>C c.9599T>C (p.Phe3200Ser) c.8504T>C (p.Phe2835Ser) c.4688T>C (p.Phe1563Ser) c.4241T>C (p.Phe1414Ser) c.3578T>C (p.Phe1193Ser) c.8093T>C (p.Phe2698Ser) | |
5 | g.13770863A>T | CA359204689 | DNAH5 | c.9491T>A (p.Phe3164Tyr) c.9446T>A (p.Phe3149Tyr) n.203T>A c.9599T>A (p.Phe3200Tyr) c.8504T>A (p.Phe2835Tyr) c.4688T>A (p.Phe1563Tyr) c.4241T>A (p.Phe1414Tyr) c.3578T>A (p.Phe1193Tyr) c.8093T>A (p.Phe2698Tyr) | |
5 | g.13770864A= | CA1528431214 | DNAH5 | c.9490T= (p.Phe3164=) c.9445T= (p.Phe3149=) n.202T= c.9598T= (p.Phe3200=) c.8503T= (p.Phe2835=) c.4687T= (p.Phe1563=) c.4240T= (p.Phe1414=) c.3577T= (p.Phe1193=) c.8092T= (p.Phe2698=) | |
5 | g.13770864A>C | CA3202536 | DNAH5 | c.9490T>G (p.Phe3164Val) c.9445T>G (p.Phe3149Val) n.202T>G c.9598T>G (p.Phe3200Val) c.8503T>G (p.Phe2835Val) c.4687T>G (p.Phe1563Val) c.4240T>G (p.Phe1414Val) c.3577T>G (p.Phe1193Val) c.8092T>G (p.Phe2698Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770864A>G | CA359204699 | DNAH5 | c.9490T>C (p.Phe3164Leu) c.9445T>C (p.Phe3149Leu) n.202T>C c.9598T>C (p.Phe3200Leu) c.8503T>C (p.Phe2835Leu) c.4687T>C (p.Phe1563Leu) c.4240T>C (p.Phe1414Leu) c.3577T>C (p.Phe1193Leu) c.8092T>C (p.Phe2698Leu) | |
5 | g.13770864A>T | CA359204696 | DNAH5 | c.9490T>A (p.Phe3164Ile) c.9445T>A (p.Phe3149Ile) n.202T>A c.9598T>A (p.Phe3200Ile) c.8503T>A (p.Phe2835Ile) c.4687T>A (p.Phe1563Ile) c.4240T>A (p.Phe1414Ile) c.3577T>A (p.Phe1193Ile) c.8092T>A (p.Phe2698Ile) | |
5 | g.13770865A= | CA1528431215 | DNAH5 | c.9489T= (p.Tyr3163=) c.9444T= (p.Tyr3148=) n.201T= c.9597T= (p.Tyr3199=) c.8502T= (p.Tyr2834=) c.4686T= (p.Tyr1562=) c.4239T= (p.Tyr1413=) c.3576T= (p.Tyr1192=) c.8091T= (p.Tyr2697=) | |
5 | g.13770865A>C | CA359204700 | DNAH5 | c.9489T>G (p.Tyr3163Ter) c.9444T>G (p.Tyr3148Ter) n.201T>G c.9597T>G (p.Tyr3199Ter) c.8502T>G (p.Tyr2834Ter) c.4686T>G (p.Tyr1562Ter) c.4239T>G (p.Tyr1413Ter) c.3576T>G (p.Tyr1192Ter) c.8091T>G (p.Tyr2697Ter) | ClinVar |
5 | g.13770865A>G | CA113932995 | DNAH5 | c.9489T>C (p.Tyr3163=) c.9444T>C (p.Tyr3148=) n.201T>C c.9597T>C (p.Tyr3199=) c.8502T>C (p.Tyr2834=) c.4686T>C (p.Tyr1562=) c.4239T>C (p.Tyr1413=) c.3576T>C (p.Tyr1192=) c.8091T>C (p.Tyr2697=) | ClinVar dbSNP gnomAD v4 |
5 | g.13770865A>T | CA359204703 | DNAH5 | c.9489T>A (p.Tyr3163Ter) c.9444T>A (p.Tyr3148Ter) n.201T>A c.9597T>A (p.Tyr3199Ter) c.8502T>A (p.Tyr2834Ter) c.4686T>A (p.Tyr1562Ter) c.4239T>A (p.Tyr1413Ter) c.3576T>A (p.Tyr1192Ter) c.8091T>A (p.Tyr2697Ter) | |
5 | g.13770866T>A | CA359204704 | DNAH5 | c.9488A>T (p.Tyr3163Phe) c.9443A>T (p.Tyr3148Phe) n.200A>T c.9596A>T (p.Tyr3199Phe) c.8501A>T (p.Tyr2834Phe) c.4685A>T (p.Tyr1562Phe) c.4238A>T (p.Tyr1413Phe) c.3575A>T (p.Tyr1192Phe) c.8090A>T (p.Tyr2697Phe) | |
5 | g.13770866T>C | CA359204705 | DNAH5 | c.9488A>G (p.Tyr3163Cys) c.9443A>G (p.Tyr3148Cys) n.200A>G c.9596A>G (p.Tyr3199Cys) c.8501A>G (p.Tyr2834Cys) c.4685A>G (p.Tyr1562Cys) c.4238A>G (p.Tyr1413Cys) c.3575A>G (p.Tyr1192Cys) c.8090A>G (p.Tyr2697Cys) | |
5 | g.13770866T>G | CA359204706 | DNAH5 | c.9488A>C (p.Tyr3163Ser) c.9443A>C (p.Tyr3148Ser) n.200A>C c.9596A>C (p.Tyr3199Ser) c.8501A>C (p.Tyr2834Ser) c.4685A>C (p.Tyr1562Ser) c.4238A>C (p.Tyr1413Ser) c.3575A>C (p.Tyr1192Ser) c.8090A>C (p.Tyr2697Ser) | |
5 | g.13770867A>C | CA359204710 | DNAH5 | c.9487T>G (p.Tyr3163Asp) c.9442T>G (p.Tyr3148Asp) n.199T>G c.9595T>G (p.Tyr3199Asp) c.8500T>G (p.Tyr2834Asp) c.4684T>G (p.Tyr1562Asp) c.4237T>G (p.Tyr1413Asp) c.3574T>G (p.Tyr1192Asp) c.8089T>G (p.Tyr2697Asp) | |
5 | g.13770867A>G | CA359204707 | DNAH5 | c.9487T>C (p.Tyr3163His) c.9442T>C (p.Tyr3148His) n.199T>C c.9595T>C (p.Tyr3199His) c.8500T>C (p.Tyr2834His) c.4684T>C (p.Tyr1562His) c.4237T>C (p.Tyr1413His) c.3574T>C (p.Tyr1192His) c.8089T>C (p.Tyr2697His) | gnomAD v4 |
5 | g.13770867A>T | CA359204708 | DNAH5 | c.9487T>A (p.Tyr3163Asn) c.9442T>A (p.Tyr3148Asn) n.199T>A c.9595T>A (p.Tyr3199Asn) c.8500T>A (p.Tyr2834Asn) c.4684T>A (p.Tyr1562Asn) c.4237T>A (p.Tyr1413Asn) c.3574T>A (p.Tyr1192Asn) c.8089T>A (p.Tyr2697Asn) | |
5 | g.13770869_13770872del | CA2695204135 | DNAH5 | c.9484_9487del (p.Asp3162IlefsTer11) c.9439_9442del (p.Asp3147IlefsTer11) n.196_199del c.9592_9595del (p.Asp3198IlefsTer11) c.8497_8500del (p.Asp2833IlefsTer11) c.4681_4684del (p.Asp1561IlefsTer11) c.4234_4237del (p.Asp1412IlefsTer11) c.3571_3574del (p.Asp1191IlefsTer11) c.8086_8089del (p.Asp2696IlefsTer11) | |
5 | g.13770868A>C | CA359204713 | DNAH5 | c.9486T>G (p.Asp3162Glu) c.9441T>G (p.Asp3147Glu) n.198T>G c.9594T>G (p.Asp3198Glu) c.8499T>G (p.Asp2833Glu) c.4683T>G (p.Asp1561Glu) c.4236T>G (p.Asp1412Glu) c.3573T>G (p.Asp1191Glu) c.8088T>G (p.Asp2696Glu) | |
5 | g.13770868A>G | CA443535623 | DNAH5 | c.9486T>C (p.Asp3162=) c.9441T>C (p.Asp3147=) n.198T>C c.9594T>C (p.Asp3198=) c.8499T>C (p.Asp2833=) c.4683T>C (p.Asp1561=) c.4236T>C (p.Asp1412=) c.3573T>C (p.Asp1191=) c.8088T>C (p.Asp2696=) | gnomAD v4 |
5 | g.13770868A>T | CA359204715 | DNAH5 | c.9486T>A (p.Asp3162Glu) c.9441T>A (p.Asp3147Glu) n.198T>A c.9594T>A (p.Asp3198Glu) c.8499T>A (p.Asp2833Glu) c.4683T>A (p.Asp1561Glu) c.4236T>A (p.Asp1412Glu) c.3573T>A (p.Asp1191Glu) c.8088T>A (p.Asp2696Glu) | |
5 | g.13770869T>A | CA359204718 | DNAH5 | c.9485A>T (p.Asp3162Val) c.9440A>T (p.Asp3147Val) n.197A>T c.9593A>T (p.Asp3198Val) c.8498A>T (p.Asp2833Val) c.4682A>T (p.Asp1561Val) c.4235A>T (p.Asp1412Val) c.3572A>T (p.Asp1191Val) c.8087A>T (p.Asp2696Val) | |
5 | g.13770869T>C | CA359204722 | DNAH5 | c.9485A>G (p.Asp3162Gly) c.9440A>G (p.Asp3147Gly) n.197A>G c.9593A>G (p.Asp3198Gly) c.8498A>G (p.Asp2833Gly) c.4682A>G (p.Asp1561Gly) c.4235A>G (p.Asp1412Gly) c.3572A>G (p.Asp1191Gly) c.8087A>G (p.Asp2696Gly) | |
5 | g.13770869T>G | CA359204724 | DNAH5 | c.9485A>C (p.Asp3162Ala) c.9440A>C (p.Asp3147Ala) n.197A>C c.9593A>C (p.Asp3198Ala) c.8498A>C (p.Asp2833Ala) c.4682A>C (p.Asp1561Ala) c.4235A>C (p.Asp1412Ala) c.3572A>C (p.Asp1191Ala) c.8087A>C (p.Asp2696Ala) | |
5 | g.13770870C>A | CA359204728 | DNAH5 | c.9484G>T (p.Asp3162Tyr) c.9439G>T (p.Asp3147Tyr) n.196G>T c.9592G>T (p.Asp3198Tyr) c.8497G>T (p.Asp2833Tyr) c.4681G>T (p.Asp1561Tyr) c.4234G>T (p.Asp1412Tyr) c.3571G>T (p.Asp1191Tyr) c.8086G>T (p.Asp2696Tyr) | |
5 | g.13770870C= | CA1528431216 | DNAH5 | c.9484G= (p.Asp3162=) c.9439G= (p.Asp3147=) n.196G= c.9592G= (p.Asp3198=) c.8497G= (p.Asp2833=) c.4681G= (p.Asp1561=) c.4234G= (p.Asp1412=) c.3571G= (p.Asp1191=) c.8086G= (p.Asp2696=) | |
5 | g.13770870C>G | CA359204732 | DNAH5 | c.9484G>C (p.Asp3162His) c.9439G>C (p.Asp3147His) n.196G>C c.9592G>C (p.Asp3198His) c.8497G>C (p.Asp2833His) c.4681G>C (p.Asp1561His) c.4234G>C (p.Asp1412His) c.3571G>C (p.Asp1191His) c.8086G>C (p.Asp2696His) | dbSNP gnomAD v4 |
5 | g.13770870C>T | CA359204729 | DNAH5 | c.9484G>A (p.Asp3162Asn) c.9439G>A (p.Asp3147Asn) n.196G>A c.9592G>A (p.Asp3198Asn) c.8497G>A (p.Asp2833Asn) c.4681G>A (p.Asp1561Asn) c.4234G>A (p.Asp1412Asn) c.3571G>A (p.Asp1191Asn) c.8086G>A (p.Asp2696Asn) | |
5 | g.13770871A>C | CA443535625 | DNAH5 | c.9483T>G (p.Val3161=) c.9438T>G (p.Val3146=) n.195T>G c.9591T>G (p.Val3197=) c.8496T>G (p.Val2832=) c.4680T>G (p.Val1560=) c.4233T>G (p.Val1411=) c.3570T>G (p.Val1190=) c.8085T>G (p.Val2695=) | |
5 | g.13770871A>G | CA443535627 | DNAH5 | c.9483T>C (p.Val3161=) c.9438T>C (p.Val3146=) n.195T>C c.9591T>C (p.Val3197=) c.8496T>C (p.Val2832=) c.4680T>C (p.Val1560=) c.4233T>C (p.Val1411=) c.3570T>C (p.Val1190=) c.8085T>C (p.Val2695=) | |
5 | g.13770871A>T | CA443535628 | DNAH5 | c.9483T>A (p.Val3161=) c.9438T>A (p.Val3146=) n.195T>A c.9591T>A (p.Val3197=) c.8496T>A (p.Val2832=) c.4680T>A (p.Val1560=) c.4233T>A (p.Val1411=) c.3570T>A (p.Val1190=) c.8085T>A (p.Val2695=) | |
5 | g.13770872A= | CA1528431217 | DNAH5 | c.9482T= (p.Val3161=) c.9437T= (p.Val3146=) n.194T= c.9590T= (p.Val3197=) c.8495T= (p.Val2832=) c.4679T= (p.Val1560=) c.4232T= (p.Val1411=) c.3569T= (p.Val1190=) c.8084T= (p.Val2695=) | |
5 | g.13770872A>C | CA359204736 | DNAH5 | c.9482T>G (p.Val3161Gly) c.9437T>G (p.Val3146Gly) n.194T>G c.9590T>G (p.Val3197Gly) c.8495T>G (p.Val2832Gly) c.4679T>G (p.Val1560Gly) c.4232T>G (p.Val1411Gly) c.3569T>G (p.Val1190Gly) c.8084T>G (p.Val2695Gly) | |
5 | g.13770872A>G | CA359204738 | DNAH5 | c.9482T>C (p.Val3161Ala) c.9437T>C (p.Val3146Ala) n.194T>C c.9590T>C (p.Val3197Ala) c.8495T>C (p.Val2832Ala) c.4679T>C (p.Val1560Ala) c.4232T>C (p.Val1411Ala) c.3569T>C (p.Val1190Ala) c.8084T>C (p.Val2695Ala) | dbSNP |
5 | g.13770872A>T | CA113933001 | DNAH5 | c.9482T>A (p.Val3161Asp) c.9437T>A (p.Val3146Asp) n.194T>A c.9590T>A (p.Val3197Asp) c.8495T>A (p.Val2832Asp) c.4679T>A (p.Val1560Asp) c.4232T>A (p.Val1411Asp) c.3569T>A (p.Val1190Asp) c.8084T>A (p.Val2695Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770873C>A | CA3202537 | DNAH5 | c.9481G>T (p.Val3161Phe) c.9436G>T (p.Val3146Phe) n.193G>T c.9589G>T (p.Val3197Phe) c.8494G>T (p.Val2832Phe) c.4678G>T (p.Val1560Phe) c.4231G>T (p.Val1411Phe) c.3568G>T (p.Val1190Phe) c.8083G>T (p.Val2695Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770873C= | CA1528431218 | DNAH5 | c.9481G= (p.Val3161=) c.9436G= (p.Val3146=) n.193G= c.9589G= (p.Val3197=) c.8494G= (p.Val2832=) c.4678G= (p.Val1560=) c.4231G= (p.Val1411=) c.3568G= (p.Val1190=) c.8083G= (p.Val2695=) | |
5 | g.13770873C>G | CA359204742 | DNAH5 | c.9481G>C (p.Val3161Leu) c.9436G>C (p.Val3146Leu) n.193G>C c.9589G>C (p.Val3197Leu) c.8494G>C (p.Val2832Leu) c.4678G>C (p.Val1560Leu) c.4231G>C (p.Val1411Leu) c.3568G>C (p.Val1190Leu) c.8083G>C (p.Val2695Leu) | |
5 | g.13770873C>T | CA359204744 | DNAH5 | c.9481G>A (p.Val3161Ile) c.9436G>A (p.Val3146Ile) n.193G>A c.9589G>A (p.Val3197Ile) c.8494G>A (p.Val2832Ile) c.4678G>A (p.Val1560Ile) c.4231G>A (p.Val1411Ile) c.3568G>A (p.Val1190Ile) c.8083G>A (p.Val2695Ile) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770874A= | CA1528431219 | DNAH5 | c.9480T= (p.Cys3160=) c.9435T= (p.Cys3145=) n.192T= c.9588T= (p.Cys3196=) c.8493T= (p.Cys2831=) c.4677T= (p.Cys1559=) c.4230T= (p.Cys1410=) c.3567T= (p.Cys1189=) c.8082T= (p.Cys2694=) | |
5 | g.13770874A>C | CA359204749 | DNAH5 | c.9480T>G (p.Cys3160Trp) c.9435T>G (p.Cys3145Trp) n.192T>G c.9588T>G (p.Cys3196Trp) c.8493T>G (p.Cys2831Trp) c.4677T>G (p.Cys1559Trp) c.4230T>G (p.Cys1410Trp) c.3567T>G (p.Cys1189Trp) c.8082T>G (p.Cys2694Trp) | |
5 | g.13770874A>G | CA443535630 | DNAH5 | c.9480T>C (p.Cys3160=) c.9435T>C (p.Cys3145=) n.192T>C c.9588T>C (p.Cys3196=) c.8493T>C (p.Cys2831=) c.4677T>C (p.Cys1559=) c.4230T>C (p.Cys1410=) c.3567T>C (p.Cys1189=) c.8082T>C (p.Cys2694=) | gnomAD v4 |
5 | g.13770874A>T | CA3202538 | DNAH5 | c.9480T>A (p.Cys3160Ter) c.9435T>A (p.Cys3145Ter) n.192T>A c.9588T>A (p.Cys3196Ter) c.8493T>A (p.Cys2831Ter) c.4677T>A (p.Cys1559Ter) c.4230T>A (p.Cys1410Ter) c.3567T>A (p.Cys1189Ter) c.8082T>A (p.Cys2694Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770875C>A | CA359204755 | DNAH5 | c.9479G>T (p.Cys3160Phe) c.9434G>T (p.Cys3145Phe) n.191G>T c.9587G>T (p.Cys3196Phe) c.8492G>T (p.Cys2831Phe) c.4676G>T (p.Cys1559Phe) c.4229G>T (p.Cys1410Phe) c.3566G>T (p.Cys1189Phe) c.8081G>T (p.Cys2694Phe) | |
5 | g.13770875C>G | CA359204760 | DNAH5 | c.9479G>C (p.Cys3160Ser) c.9434G>C (p.Cys3145Ser) n.191G>C c.9587G>C (p.Cys3196Ser) c.8492G>C (p.Cys2831Ser) c.4676G>C (p.Cys1559Ser) c.4229G>C (p.Cys1410Ser) c.3566G>C (p.Cys1189Ser) c.8081G>C (p.Cys2694Ser) | |
5 | g.13770875C>T | CA359204764 | DNAH5 | c.9479G>A (p.Cys3160Tyr) c.9434G>A (p.Cys3145Tyr) n.191G>A c.9587G>A (p.Cys3196Tyr) c.8492G>A (p.Cys2831Tyr) c.4676G>A (p.Cys1559Tyr) c.4229G>A (p.Cys1410Tyr) c.3566G>A (p.Cys1189Tyr) c.8081G>A (p.Cys2694Tyr) | |
5 | g.13770876A= | CA1528431220 | DNAH5 | c.9478T= (p.Cys3160=) c.9433T= (p.Cys3145=) n.190T= c.9586T= (p.Cys3196=) c.8491T= (p.Cys2831=) c.4675T= (p.Cys1559=) c.4228T= (p.Cys1410=) c.3565T= (p.Cys1189=) c.8080T= (p.Cys2694=) | |
5 | g.13770876A>C | CA359204772 | DNAH5 | c.9478T>G (p.Cys3160Gly) c.9433T>G (p.Cys3145Gly) n.190T>G c.9586T>G (p.Cys3196Gly) c.8491T>G (p.Cys2831Gly) c.4675T>G (p.Cys1559Gly) c.4228T>G (p.Cys1410Gly) c.3565T>G (p.Cys1189Gly) c.8080T>G (p.Cys2694Gly) | |
5 | g.13770876A>G | CA3202539 | DNAH5 | c.9478T>C (p.Cys3160Arg) c.9433T>C (p.Cys3145Arg) n.190T>C c.9586T>C (p.Cys3196Arg) c.8491T>C (p.Cys2831Arg) c.4675T>C (p.Cys1559Arg) c.4228T>C (p.Cys1410Arg) c.3565T>C (p.Cys1189Arg) c.8080T>C (p.Cys2694Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770876A>T | CA359204767 | DNAH5 | c.9478T>A (p.Cys3160Ser) c.9433T>A (p.Cys3145Ser) n.190T>A c.9586T>A (p.Cys3196Ser) c.8491T>A (p.Cys2831Ser) c.4675T>A (p.Cys1559Ser) c.4228T>A (p.Cys1410Ser) c.3565T>A (p.Cys1189Ser) c.8080T>A (p.Cys2694Ser) | |
5 | g.13770877C>A | CA359204786 | DNAH5 | c.9477G>T (p.Lys3159Asn) c.9432G>T (p.Lys3144Asn) n.189G>T c.9585G>T (p.Lys3195Asn) c.8490G>T (p.Lys2830Asn) c.4674G>T (p.Lys1558Asn) c.4227G>T (p.Lys1409Asn) c.3564G>T (p.Lys1188Asn) c.8079G>T (p.Lys2693Asn) | |
5 | g.13770877C= | CA1528431221 | DNAH5 | c.9477G= (p.Lys3159=) c.9432G= (p.Lys3144=) n.189G= c.9585G= (p.Lys3195=) c.8490G= (p.Lys2830=) c.4674G= (p.Lys1558=) c.4227G= (p.Lys1409=) c.3564G= (p.Lys1188=) c.8079G= (p.Lys2693=) | |
5 | g.13770877C>G | CA359204790 | DNAH5 | c.9477G>C (p.Lys3159Asn) c.9432G>C (p.Lys3144Asn) n.189G>C c.9585G>C (p.Lys3195Asn) c.8490G>C (p.Lys2830Asn) c.4674G>C (p.Lys1558Asn) c.4227G>C (p.Lys1409Asn) c.3564G>C (p.Lys1188Asn) c.8079G>C (p.Lys2693Asn) | |
5 | g.13770877C>T | CA443535640 | DNAH5 | c.9477G>A (p.Lys3159=) c.9432G>A (p.Lys3144=) n.189G>A c.9585G>A (p.Lys3195=) c.8490G>A (p.Lys2830=) c.4674G>A (p.Lys1558=) c.4227G>A (p.Lys1409=) c.3564G>A (p.Lys1188=) c.8079G>A (p.Lys2693=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770878T>A | CA359204794 | DNAH5 | c.9476A>T (p.Lys3159Met) c.9431A>T (p.Lys3144Met) n.188A>T c.9584A>T (p.Lys3195Met) c.8489A>T (p.Lys2830Met) c.4673A>T (p.Lys1558Met) c.4226A>T (p.Lys1409Met) c.3563A>T (p.Lys1188Met) c.8078A>T (p.Lys2693Met) | |
5 | g.13770878T>C | CA359204804 | DNAH5 | c.9476A>G (p.Lys3159Arg) c.9431A>G (p.Lys3144Arg) n.188A>G c.9584A>G (p.Lys3195Arg) c.8489A>G (p.Lys2830Arg) c.4673A>G (p.Lys1558Arg) c.4226A>G (p.Lys1409Arg) c.3563A>G (p.Lys1188Arg) c.8078A>G (p.Lys2693Arg) | |
5 | g.13770878T>G | CA359204796 | DNAH5 | c.9476A>C (p.Lys3159Thr) c.9431A>C (p.Lys3144Thr) n.188A>C c.9584A>C (p.Lys3195Thr) c.8489A>C (p.Lys2830Thr) c.4673A>C (p.Lys1558Thr) c.4226A>C (p.Lys1409Thr) c.3563A>C (p.Lys1188Thr) c.8078A>C (p.Lys2693Thr) | |
5 | g.13770879T>A | CA3202540 | DNAH5 | c.9475A>T (p.Lys3159Ter) c.9430A>T (p.Lys3144Ter) n.187A>T c.9583A>T (p.Lys3195Ter) c.8488A>T (p.Lys2830Ter) c.4672A>T (p.Lys1558Ter) c.4225A>T (p.Lys1409Ter) c.3562A>T (p.Lys1188Ter) c.8077A>T (p.Lys2693Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770879T>C | CA359204814 | DNAH5 | c.9475A>G (p.Lys3159Glu) c.9430A>G (p.Lys3144Glu) n.187A>G c.9583A>G (p.Lys3195Glu) c.8488A>G (p.Lys2830Glu) c.4672A>G (p.Lys1558Glu) c.4225A>G (p.Lys1409Glu) c.3562A>G (p.Lys1188Glu) c.8077A>G (p.Lys2693Glu) | |
5 | g.13770879T>G | CA359204811 | DNAH5 | c.9475A>C (p.Lys3159Gln) c.9430A>C (p.Lys3144Gln) n.187A>C c.9583A>C (p.Lys3195Gln) c.8488A>C (p.Lys2830Gln) c.4672A>C (p.Lys1558Gln) c.4225A>C (p.Lys1409Gln) c.3562A>C (p.Lys1188Gln) c.8077A>C (p.Lys2693Gln) | dbSNP |
5 | g.13770879T= | CA1528431222 | DNAH5 | c.9475A= (p.Lys3159=) c.9430A= (p.Lys3144=) n.187A= c.9583A= (p.Lys3195=) c.8488A= (p.Lys2830=) c.4672A= (p.Lys1558=) c.4225A= (p.Lys1409=) c.3562A= (p.Lys1188=) c.8077A= (p.Lys2693=) | |
5 | g.13770880C>A | CA359204817 | DNAH5 | c.9474G>T (p.Glu3158Asp) c.9429G>T (p.Glu3143Asp) n.186G>T c.9582G>T (p.Glu3194Asp) c.8487G>T (p.Glu2829Asp) c.4671G>T (p.Glu1557Asp) c.4224G>T (p.Glu1408Asp) c.3561G>T (p.Glu1187Asp) c.8076G>T (p.Glu2692Asp) | COSMIC |
5 | g.13770880C>G | CA359204819 | DNAH5 | c.9474G>C (p.Glu3158Asp) c.9429G>C (p.Glu3143Asp) n.186G>C c.9582G>C (p.Glu3194Asp) c.8487G>C (p.Glu2829Asp) c.4671G>C (p.Glu1557Asp) c.4224G>C (p.Glu1408Asp) c.3561G>C (p.Glu1187Asp) c.8076G>C (p.Glu2692Asp) | |
5 | g.13770880C>T | CA443535647 | DNAH5 | c.9474G>A (p.Glu3158=) c.9429G>A (p.Glu3143=) n.186G>A c.9582G>A (p.Glu3194=) c.8487G>A (p.Glu2829=) c.4671G>A (p.Glu1557=) c.4224G>A (p.Glu1408=) c.3561G>A (p.Glu1187=) c.8076G>A (p.Glu2692=) | gnomAD v4 |
5 | g.13770881T>A | CA359204822 | DNAH5 | c.9473A>T (p.Glu3158Val) c.9428A>T (p.Glu3143Val) n.185A>T c.9581A>T (p.Glu3194Val) c.8486A>T (p.Glu2829Val) c.4670A>T (p.Glu1557Val) c.4223A>T (p.Glu1408Val) c.3560A>T (p.Glu1187Val) c.8075A>T (p.Glu2692Val) | |
5 | g.13770881T>C | CA359204824 | DNAH5 | c.9473A>G (p.Glu3158Gly) c.9428A>G (p.Glu3143Gly) n.185A>G c.9581A>G (p.Glu3194Gly) c.8486A>G (p.Glu2829Gly) c.4670A>G (p.Glu1557Gly) c.4223A>G (p.Glu1408Gly) c.3560A>G (p.Glu1187Gly) c.8075A>G (p.Glu2692Gly) | |
5 | g.13770881T>G | CA359204825 | DNAH5 | c.9473A>C (p.Glu3158Ala) c.9428A>C (p.Glu3143Ala) n.185A>C c.9581A>C (p.Glu3194Ala) c.8486A>C (p.Glu2829Ala) c.4670A>C (p.Glu1557Ala) c.4223A>C (p.Glu1408Ala) c.3560A>C (p.Glu1187Ala) c.8075A>C (p.Glu2692Ala) | |
5 | g.13770882C>A | CA359204826 | DNAH5 | c.9472G>T (p.Glu3158Ter) c.9427G>T (p.Glu3143Ter) n.184G>T c.9580G>T (p.Glu3194Ter) c.8485G>T (p.Glu2829Ter) c.4669G>T (p.Glu1557Ter) c.4222G>T (p.Glu1408Ter) c.3559G>T (p.Glu1187Ter) c.8074G>T (p.Glu2692Ter) | |
5 | g.13770882C= | CA1528431223 | DNAH5 | c.9472G= (p.Glu3158=) c.9427G= (p.Glu3143=) n.184G= c.9580G= (p.Glu3194=) c.8485G= (p.Glu2829=) c.4669G= (p.Glu1557=) c.4222G= (p.Glu1408=) c.3559G= (p.Glu1187=) c.8074G= (p.Glu2692=) | |
5 | g.13770882C>G | CA359204828 | DNAH5 | c.9472G>C (p.Glu3158Gln) c.9427G>C (p.Glu3143Gln) n.184G>C c.9580G>C (p.Glu3194Gln) c.8485G>C (p.Glu2829Gln) c.4669G>C (p.Glu1557Gln) c.4222G>C (p.Glu1408Gln) c.3559G>C (p.Glu1187Gln) c.8074G>C (p.Glu2692Gln) | |
5 | g.13770882C>T | CA113933049 | DNAH5 | c.9472G>A (p.Glu3158Lys) c.9427G>A (p.Glu3143Lys) n.184G>A c.9580G>A (p.Glu3194Lys) c.8485G>A (p.Glu2829Lys) c.4669G>A (p.Glu1557Lys) c.4222G>A (p.Glu1408Lys) c.3559G>A (p.Glu1187Lys) c.8074G>A (p.Glu2692Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770883A>C | CA443535652 | DNAH5 | c.9471T>G (p.Ala3157=) c.9426T>G (p.Ala3142=) n.183T>G c.9579T>G (p.Ala3193=) c.8484T>G (p.Ala2828=) c.4668T>G (p.Ala1556=) c.4221T>G (p.Ala1407=) c.3558T>G (p.Ala1186=) c.8073T>G (p.Ala2691=) | gnomAD v4 |
5 | g.13770883A>G | CA443535653 | DNAH5 | c.9471T>C (p.Ala3157=) c.9426T>C (p.Ala3142=) n.183T>C c.9579T>C (p.Ala3193=) c.8484T>C (p.Ala2828=) c.4668T>C (p.Ala1556=) c.4221T>C (p.Ala1407=) c.3558T>C (p.Ala1186=) c.8073T>C (p.Ala2691=) | |
5 | g.13770883A>T | CA443535654 | DNAH5 | c.9471T>A (p.Ala3157=) c.9426T>A (p.Ala3142=) n.183T>A c.9579T>A (p.Ala3193=) c.8484T>A (p.Ala2828=) c.4668T>A (p.Ala1556=) c.4221T>A (p.Ala1407=) c.3558T>A (p.Ala1186=) c.8073T>A (p.Ala2691=) | |
5 | g.13770884G>A | CA3202541 | DNAH5 | c.9470C>T (p.Ala3157Val) c.9425C>T (p.Ala3142Val) n.182C>T c.9578C>T (p.Ala3193Val) c.8483C>T (p.Ala2828Val) c.4667C>T (p.Ala1556Val) c.4220C>T (p.Ala1407Val) c.3557C>T (p.Ala1186Val) c.8072C>T (p.Ala2691Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770884G>C | CA359204835 | DNAH5 | c.9470C>G (p.Ala3157Gly) c.9425C>G (p.Ala3142Gly) n.182C>G c.9578C>G (p.Ala3193Gly) c.8483C>G (p.Ala2828Gly) c.4667C>G (p.Ala1556Gly) c.4220C>G (p.Ala1407Gly) c.3557C>G (p.Ala1186Gly) c.8072C>G (p.Ala2691Gly) | |
5 | g.13770884G= | CA1528431224 | DNAH5 | c.9470C= (p.Ala3157=) c.9425C= (p.Ala3142=) n.182C= c.9578C= (p.Ala3193=) c.8483C= (p.Ala2828=) c.4667C= (p.Ala1556=) c.4220C= (p.Ala1407=) c.3557C= (p.Ala1186=) c.8072C= (p.Ala2691=) | |
5 | g.13770884G>T | CA113933058 | DNAH5 | c.9470C>A (p.Ala3157Asp) c.9425C>A (p.Ala3142Asp) n.182C>A c.9578C>A (p.Ala3193Asp) c.8483C>A (p.Ala2828Asp) c.4667C>A (p.Ala1556Asp) c.4220C>A (p.Ala1407Asp) c.3557C>A (p.Ala1186Asp) c.8072C>A (p.Ala2691Asp) | dbSNP gnomAD v4 |
5 | g.13770885C>A | CA359204836 | DNAH5 | c.9469G>T (p.Ala3157Ser) c.9424G>T (p.Ala3142Ser) n.181G>T c.9577G>T (p.Ala3193Ser) c.8482G>T (p.Ala2828Ser) c.4666G>T (p.Ala1556Ser) c.4219G>T (p.Ala1407Ser) c.3556G>T (p.Ala1186Ser) c.8071G>T (p.Ala2691Ser) | |
5 | g.13770885C>G | CA359204838 | DNAH5 | c.9469G>C (p.Ala3157Pro) c.9424G>C (p.Ala3142Pro) n.181G>C c.9577G>C (p.Ala3193Pro) c.8482G>C (p.Ala2828Pro) c.4666G>C (p.Ala1556Pro) c.4219G>C (p.Ala1407Pro) c.3556G>C (p.Ala1186Pro) c.8071G>C (p.Ala2691Pro) | |
5 | g.13770885C>T | CA359204837 | DNAH5 | c.9469G>A (p.Ala3157Thr) c.9424G>A (p.Ala3142Thr) n.181G>A c.9577G>A (p.Ala3193Thr) c.8482G>A (p.Ala2828Thr) c.4666G>A (p.Ala1556Thr) c.4219G>A (p.Ala1407Thr) c.3556G>A (p.Ala1186Thr) c.8071G>A (p.Ala2691Thr) | gnomAD v4 |
5 | g.13770886C>A | CA443535659 | DNAH5 | c.9468G>T (p.Val3156=) c.9423G>T (p.Val3141=) n.180G>T c.9576G>T (p.Val3192=) c.8481G>T (p.Val2827=) c.4665G>T (p.Val1555=) c.4218G>T (p.Val1406=) c.3555G>T (p.Val1185=) c.8070G>T (p.Val2690=) | |
5 | g.13770886C>G | CA443535660 | DNAH5 | c.9468G>C (p.Val3156=) c.9423G>C (p.Val3141=) n.180G>C c.9576G>C (p.Val3192=) c.8481G>C (p.Val2827=) c.4665G>C (p.Val1555=) c.4218G>C (p.Val1406=) c.3555G>C (p.Val1185=) c.8070G>C (p.Val2690=) | |
5 | g.13770886C>T | CA443535661 | DNAH5 | c.9468G>A (p.Val3156=) c.9423G>A (p.Val3141=) n.180G>A c.9576G>A (p.Val3192=) c.8481G>A (p.Val2827=) c.4665G>A (p.Val1555=) c.4218G>A (p.Val1406=) c.3555G>A (p.Val1185=) c.8070G>A (p.Val2690=) | gnomAD v4 |
5 | g.13770887A= | CA1528431225 | DNAH5 | c.9467T= (p.Val3156=) c.9422T= (p.Val3141=) n.179T= c.9575T= (p.Val3192=) c.8480T= (p.Val2827=) c.4664T= (p.Val1555=) c.4217T= (p.Val1406=) c.3554T= (p.Val1185=) c.8069T= (p.Val2690=) | |
5 | g.13770887A>C | CA359204841 | DNAH5 | c.9467T>G (p.Val3156Gly) c.9422T>G (p.Val3141Gly) n.179T>G c.9575T>G (p.Val3192Gly) c.8480T>G (p.Val2827Gly) c.4664T>G (p.Val1555Gly) c.4217T>G (p.Val1406Gly) c.3554T>G (p.Val1185Gly) c.8069T>G (p.Val2690Gly) | |
5 | g.13770887A>G | CA359204850 | DNAH5 | c.9467T>C (p.Val3156Ala) c.9422T>C (p.Val3141Ala) n.179T>C c.9575T>C (p.Val3192Ala) c.8480T>C (p.Val2827Ala) c.4664T>C (p.Val1555Ala) c.4217T>C (p.Val1406Ala) c.3554T>C (p.Val1185Ala) c.8069T>C (p.Val2690Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770887A>T | CA359204853 | DNAH5 | c.9467T>A (p.Val3156Glu) c.9422T>A (p.Val3141Glu) n.179T>A c.9575T>A (p.Val3192Glu) c.8480T>A (p.Val2827Glu) c.4664T>A (p.Val1555Glu) c.4217T>A (p.Val1406Glu) c.3554T>A (p.Val1185Glu) c.8069T>A (p.Val2690Glu) | |
5 | g.13770888C>A | CA359204858 | DNAH5 | c.9466G>T (p.Val3156Leu) c.9421G>T (p.Val3141Leu) n.178G>T c.9574G>T (p.Val3192Leu) c.8479G>T (p.Val2827Leu) c.4663G>T (p.Val1555Leu) c.4216G>T (p.Val1406Leu) c.3553G>T (p.Val1185Leu) c.8068G>T (p.Val2690Leu) | |
5 | g.13770888C>G | CA359204859 | DNAH5 | c.9466G>C (p.Val3156Leu) c.9421G>C (p.Val3141Leu) n.178G>C c.9574G>C (p.Val3192Leu) c.8479G>C (p.Val2827Leu) c.4663G>C (p.Val1555Leu) c.4216G>C (p.Val1406Leu) c.3553G>C (p.Val1185Leu) c.8068G>C (p.Val2690Leu) | |
5 | g.13770888C>T | CA359204861 | DNAH5 | c.9466G>A (p.Val3156Met) c.9421G>A (p.Val3141Met) n.178G>A c.9574G>A (p.Val3192Met) c.8479G>A (p.Val2827Met) c.4663G>A (p.Val1555Met) c.4216G>A (p.Val1406Met) c.3553G>A (p.Val1185Met) c.8068G>A (p.Val2690Met) | gnomAD v4 |
5 | g.13770890_13770891del | CA2580072363 | DNAH5 | c.9465_9466del (p.Val3156GlyfsTer2) c.9420_9421del (p.Val3141GlyfsTer2) n.177_178del c.9573_9574del (p.Val3192GlyfsTer2) c.8478_8479del (p.Val2827GlyfsTer2) c.4662_4663del (p.Val1555GlyfsTer2) c.4215_4216del (p.Val1406GlyfsTer2) c.3552_3553del (p.Val1185GlyfsTer2) c.8067_8068del (p.Val2690GlyfsTer2) | ClinVar |
5 | g.13770889C>A | CA443535671 | DNAH5 | c.9465G>T (p.Gly3155=) c.9420G>T (p.Gly3140=) n.177G>T c.9573G>T (p.Gly3191=) c.8478G>T (p.Gly2826=) c.4662G>T (p.Gly1554=) c.4215G>T (p.Gly1405=) c.3552G>T (p.Gly1184=) c.8067G>T (p.Gly2689=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770889C= | CA1528431226 | DNAH5 | c.9465G= (p.Gly3155=) c.9420G= (p.Gly3140=) n.177G= c.9573G= (p.Gly3191=) c.8478G= (p.Gly2826=) c.4662G= (p.Gly1554=) c.4215G= (p.Gly1405=) c.3552G= (p.Gly1184=) c.8067G= (p.Gly2689=) | |
5 | g.13770889C>G | CA443535669 | DNAH5 | c.9465G>C (p.Gly3155=) c.9420G>C (p.Gly3140=) n.177G>C c.9573G>C (p.Gly3191=) c.8478G>C (p.Gly2826=) c.4662G>C (p.Gly1554=) c.4215G>C (p.Gly1405=) c.3552G>C (p.Gly1184=) c.8067G>C (p.Gly2689=) | gnomAD v4 |
5 | g.13770889C>T | CA443535668 | DNAH5 | c.9465G>A (p.Gly3155=) c.9420G>A (p.Gly3140=) n.177G>A c.9573G>A (p.Gly3191=) c.8478G>A (p.Gly2826=) c.4662G>A (p.Gly1554=) c.4215G>A (p.Gly1405=) c.3552G>A (p.Gly1184=) c.8067G>A (p.Gly2689=) | ClinVar gnomAD v4 |
5 | g.13770890C>A | CA359204863 | DNAH5 | c.9464G>T (p.Gly3155Val) c.9419G>T (p.Gly3140Val) n.176G>T c.9572G>T (p.Gly3191Val) c.8477G>T (p.Gly2826Val) c.4661G>T (p.Gly1554Val) c.4214G>T (p.Gly1405Val) c.3551G>T (p.Gly1184Val) c.8066G>T (p.Gly2689Val) | gnomAD v3 gnomAD v4 |
5 | g.13770890C>G | CA359204865 | DNAH5 | c.9464G>C (p.Gly3155Ala) c.9419G>C (p.Gly3140Ala) n.176G>C c.9572G>C (p.Gly3191Ala) c.8477G>C (p.Gly2826Ala) c.4661G>C (p.Gly1554Ala) c.4214G>C (p.Gly1405Ala) c.3551G>C (p.Gly1184Ala) c.8066G>C (p.Gly2689Ala) | |
5 | g.13770890C>T | CA359204870 | DNAH5 | c.9464G>A (p.Gly3155Glu) c.9419G>A (p.Gly3140Glu) n.176G>A c.9572G>A (p.Gly3191Glu) c.8477G>A (p.Gly2826Glu) c.4661G>A (p.Gly1554Glu) c.4214G>A (p.Gly1405Glu) c.3551G>A (p.Gly1184Glu) c.8066G>A (p.Gly2689Glu) | |
5 | g.13770891C>A | CA359204873 | DNAH5 | c.9463G>T (p.Gly3155Trp) c.9418G>T (p.Gly3140Trp) n.175G>T c.9571G>T (p.Gly3191Trp) c.8476G>T (p.Gly2826Trp) c.4660G>T (p.Gly1554Trp) c.4213G>T (p.Gly1405Trp) c.3550G>T (p.Gly1184Trp) c.8065G>T (p.Gly2689Trp) | COSMIC |
5 | g.13770891C= | CA1528431227 | DNAH5 | c.9463G= (p.Gly3155=) c.9418G= (p.Gly3140=) n.175G= c.9571G= (p.Gly3191=) c.8476G= (p.Gly2826=) c.4660G= (p.Gly1554=) c.4213G= (p.Gly1405=) c.3550G= (p.Gly1184=) c.8065G= (p.Gly2689=) | |
5 | g.13770891C>G | CA359204877 | DNAH5 | c.9463G>C (p.Gly3155Arg) c.9418G>C (p.Gly3140Arg) n.175G>C c.9571G>C (p.Gly3191Arg) c.8476G>C (p.Gly2826Arg) c.4660G>C (p.Gly1554Arg) c.4213G>C (p.Gly1405Arg) c.3550G>C (p.Gly1184Arg) c.8065G>C (p.Gly2689Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770891C>T | CA359204872 | DNAH5 | c.9463G>A (p.Gly3155Arg) c.9418G>A (p.Gly3140Arg) n.175G>A c.9571G>A (p.Gly3191Arg) c.8476G>A (p.Gly2826Arg) c.4660G>A (p.Gly1554Arg) c.4213G>A (p.Gly1405Arg) c.3550G>A (p.Gly1184Arg) c.8065G>A (p.Gly2689Arg) | |
5 | g.13770892A>C | CA359204879 | DNAH5 | c.9462T>G (p.Asp3154Glu) c.9417T>G (p.Asp3139Glu) n.174T>G c.9570T>G (p.Asp3190Glu) c.8475T>G (p.Asp2825Glu) c.4659T>G (p.Asp1553Glu) c.4212T>G (p.Asp1404Glu) c.3549T>G (p.Asp1183Glu) c.8064T>G (p.Asp2688Glu) | |
5 | g.13770892A>G | CA443535678 | DNAH5 | c.9462T>C (p.Asp3154=) c.9417T>C (p.Asp3139=) n.174T>C c.9570T>C (p.Asp3190=) c.8475T>C (p.Asp2825=) c.4659T>C (p.Asp1553=) c.4212T>C (p.Asp1404=) c.3549T>C (p.Asp1183=) c.8064T>C (p.Asp2688=) | |
5 | g.13770892A>T | CA359204880 | DNAH5 | c.9462T>A (p.Asp3154Glu) c.9417T>A (p.Asp3139Glu) n.174T>A c.9570T>A (p.Asp3190Glu) c.8475T>A (p.Asp2825Glu) c.4659T>A (p.Asp1553Glu) c.4212T>A (p.Asp1404Glu) c.3549T>A (p.Asp1183Glu) c.8064T>A (p.Asp2688Glu) | |
5 | g.13770893T>A | CA359204881 | DNAH5 | c.9461A>T (p.Asp3154Val) c.9416A>T (p.Asp3139Val) n.173A>T c.9569A>T (p.Asp3190Val) c.8474A>T (p.Asp2825Val) c.4658A>T (p.Asp1553Val) c.4211A>T (p.Asp1404Val) c.3548A>T (p.Asp1183Val) c.8063A>T (p.Asp2688Val) | |
5 | g.13770893T>C | CA359204882 | DNAH5 | c.9461A>G (p.Asp3154Gly) c.9416A>G (p.Asp3139Gly) n.173A>G c.9569A>G (p.Asp3190Gly) c.8474A>G (p.Asp2825Gly) c.4658A>G (p.Asp1553Gly) c.4211A>G (p.Asp1404Gly) c.3548A>G (p.Asp1183Gly) c.8063A>G (p.Asp2688Gly) | |
5 | g.13770893T>G | CA3202542 | DNAH5 | c.9461A>C (p.Asp3154Ala) c.9416A>C (p.Asp3139Ala) n.173A>C c.9569A>C (p.Asp3190Ala) c.8474A>C (p.Asp2825Ala) c.4658A>C (p.Asp1553Ala) c.4211A>C (p.Asp1404Ala) c.3548A>C (p.Asp1183Ala) c.8063A>C (p.Asp2688Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770893T= | CA1528431228 | DNAH5 | c.9461A= (p.Asp3154=) c.9416A= (p.Asp3139=) n.173A= c.9569A= (p.Asp3190=) c.8474A= (p.Asp2825=) c.4658A= (p.Asp1553=) c.4211A= (p.Asp1404=) c.3548A= (p.Asp1183=) c.8063A= (p.Asp2688=) | |
5 | g.13770893_13770894insAGAAAAAC | CA2695204136 | DNAH5 | c.9460_9461insGTTTTTCT (p.Asp3154GlyfsTer23) c.9415_9416insGTTTTTCT (p.Asp3139GlyfsTer23) n.172_173insGTTTTTCT c.9568_9569insGTTTTTCT (p.Asp3190GlyfsTer23) c.8473_8474insGTTTTTCT (p.Asp2825GlyfsTer23) c.4657_4658insGTTTTTCT (p.Asp1553GlyfsTer23) c.4210_4211insGTTTTTCT (p.Asp1404GlyfsTer23) c.3547_3548insGTTTTTCT (p.Asp1183GlyfsTer23) c.8062_8063insGTTTTTCT (p.Asp2688GlyfsTer23) | |
5 | g.13770894C>A | CA359204884 | DNAH5 | c.9460G>T (p.Asp3154Tyr) c.9415G>T (p.Asp3139Tyr) n.172G>T c.9568G>T (p.Asp3190Tyr) c.8473G>T (p.Asp2825Tyr) c.4657G>T (p.Asp1553Tyr) c.4210G>T (p.Asp1404Tyr) c.3547G>T (p.Asp1183Tyr) c.8062G>T (p.Asp2688Tyr) | |
5 | g.13770894C>G | CA359204893 | DNAH5 | c.9460G>C (p.Asp3154His) c.9415G>C (p.Asp3139His) n.172G>C c.9568G>C (p.Asp3190His) c.8473G>C (p.Asp2825His) c.4657G>C (p.Asp1553His) c.4210G>C (p.Asp1404His) c.3547G>C (p.Asp1183His) c.8062G>C (p.Asp2688His) | |
5 | g.13770894C>T | CA359204895 | DNAH5 | c.9460G>A (p.Asp3154Asn) c.9415G>A (p.Asp3139Asn) n.172G>A c.9568G>A (p.Asp3190Asn) c.8473G>A (p.Asp2825Asn) c.4657G>A (p.Asp1553Asn) c.4210G>A (p.Asp1404Asn) c.3547G>A (p.Asp1183Asn) c.8062G>A (p.Asp2688Asn) | COSMIC |
5 | g.13770895C>A | CA359204899 | DNAH5 | c.9459G>T (p.Gln3153His) c.9414G>T (p.Gln3138His) n.171G>T c.9567G>T (p.Gln3189His) c.8472G>T (p.Gln2824His) c.4656G>T (p.Gln1552His) c.4209G>T (p.Gln1403His) c.3546G>T (p.Gln1182His) c.8061G>T (p.Gln2687His) | |
5 | g.13770895C= | CA1528431229 | DNAH5 | c.9459G= (p.Gln3153=) c.9414G= (p.Gln3138=) n.171G= c.9567G= (p.Gln3189=) c.8472G= (p.Gln2824=) c.4656G= (p.Gln1552=) c.4209G= (p.Gln1403=) c.3546G= (p.Gln1182=) c.8061G= (p.Gln2687=) | |
5 | g.13770895C>G | CA359204902 | DNAH5 | c.9459G>C (p.Gln3153His) c.9414G>C (p.Gln3138His) n.171G>C c.9567G>C (p.Gln3189His) c.8472G>C (p.Gln2824His) c.4656G>C (p.Gln1552His) c.4209G>C (p.Gln1403His) c.3546G>C (p.Gln1182His) c.8061G>C (p.Gln2687His) | |
5 | g.13770895C>T | CA113933064 | DNAH5 | c.9459G>A (p.Gln3153=) c.9414G>A (p.Gln3138=) n.171G>A c.9567G>A (p.Gln3189=) c.8472G>A (p.Gln2824=) c.4656G>A (p.Gln1552=) c.4209G>A (p.Gln1403=) c.3546G>A (p.Gln1182=) c.8061G>A (p.Gln2687=) | dbSNP |
5 | g.13770896T>A | CA359204907 | DNAH5 | c.9458A>T (p.Gln3153Leu) c.9413A>T (p.Gln3138Leu) n.170A>T c.9566A>T (p.Gln3189Leu) c.8471A>T (p.Gln2824Leu) c.4655A>T (p.Gln1552Leu) c.4208A>T (p.Gln1403Leu) c.3545A>T (p.Gln1182Leu) c.8060A>T (p.Gln2687Leu) | |
5 | g.13770896T>C | CA359204908 | DNAH5 | c.9458A>G (p.Gln3153Arg) c.9413A>G (p.Gln3138Arg) n.170A>G c.9566A>G (p.Gln3189Arg) c.8471A>G (p.Gln2824Arg) c.4655A>G (p.Gln1552Arg) c.4208A>G (p.Gln1403Arg) c.3545A>G (p.Gln1182Arg) c.8060A>G (p.Gln2687Arg) | |
5 | g.13770896T>G | CA359204906 | DNAH5 | c.9458A>C (p.Gln3153Pro) c.9413A>C (p.Gln3138Pro) n.170A>C c.9566A>C (p.Gln3189Pro) c.8471A>C (p.Gln2824Pro) c.4655A>C (p.Gln1552Pro) c.4208A>C (p.Gln1403Pro) c.3545A>C (p.Gln1182Pro) c.8060A>C (p.Gln2687Pro) | |
5 | g.13770897G>A | CA359204909 | DNAH5 | c.9457C>T (p.Gln3153Ter) c.9412C>T (p.Gln3138Ter) n.169C>T c.9565C>T (p.Gln3189Ter) c.8470C>T (p.Gln2824Ter) c.4654C>T (p.Gln1552Ter) c.4207C>T (p.Gln1403Ter) c.3544C>T (p.Gln1182Ter) c.8059C>T (p.Gln2687Ter) | |
5 | g.13770897G>C | CA359204911 | DNAH5 | c.9457C>G (p.Gln3153Glu) c.9412C>G (p.Gln3138Glu) n.169C>G c.9565C>G (p.Gln3189Glu) c.8470C>G (p.Gln2824Glu) c.4654C>G (p.Gln1552Glu) c.4207C>G (p.Gln1403Glu) c.3544C>G (p.Gln1182Glu) c.8059C>G (p.Gln2687Glu) | |
5 | g.13770897G>T | CA359204912 | DNAH5 | c.9457C>A (p.Gln3153Lys) c.9412C>A (p.Gln3138Lys) n.169C>A c.9565C>A (p.Gln3189Lys) c.8470C>A (p.Gln2824Lys) c.4654C>A (p.Gln1552Lys) c.4207C>A (p.Gln1403Lys) c.3544C>A (p.Gln1182Lys) c.8059C>A (p.Gln2687Lys) | |
5 | g.13770898G>A | CA443535682 | DNAH5 | c.9456C>T (p.Phe3152=) c.9411C>T (p.Phe3137=) n.168C>T c.9564C>T (p.Phe3188=) c.8469C>T (p.Phe2823=) c.4653C>T (p.Phe1551=) c.4206C>T (p.Phe1402=) c.3543C>T (p.Phe1181=) c.8058C>T (p.Phe2686=) | |
5 | g.13770898G>C | CA359204915 | DNAH5 | c.9456C>G (p.Phe3152Leu) c.9411C>G (p.Phe3137Leu) n.168C>G c.9564C>G (p.Phe3188Leu) c.8469C>G (p.Phe2823Leu) c.4653C>G (p.Phe1551Leu) c.4206C>G (p.Phe1402Leu) c.3543C>G (p.Phe1181Leu) c.8058C>G (p.Phe2686Leu) | |
5 | g.13770898G>T | CA359204918 | DNAH5 | c.9456C>A (p.Phe3152Leu) c.9411C>A (p.Phe3137Leu) n.168C>A c.9564C>A (p.Phe3188Leu) c.8469C>A (p.Phe2823Leu) c.4653C>A (p.Phe1551Leu) c.4206C>A (p.Phe1402Leu) c.3543C>A (p.Phe1181Leu) c.8058C>A (p.Phe2686Leu) | |
5 | g.13770899A>C | CA359204931 | DNAH5 | c.9455T>G (p.Phe3152Cys) c.9410T>G (p.Phe3137Cys) n.167T>G c.9563T>G (p.Phe3188Cys) c.8468T>G (p.Phe2823Cys) c.4652T>G (p.Phe1551Cys) c.4205T>G (p.Phe1402Cys) c.3542T>G (p.Phe1181Cys) c.8057T>G (p.Phe2686Cys) | |
5 | g.13770899A>G | CA359204926 | DNAH5 | c.9455T>C (p.Phe3152Ser) c.9410T>C (p.Phe3137Ser) n.167T>C c.9563T>C (p.Phe3188Ser) c.8468T>C (p.Phe2823Ser) c.4652T>C (p.Phe1551Ser) c.4205T>C (p.Phe1402Ser) c.3542T>C (p.Phe1181Ser) c.8057T>C (p.Phe2686Ser) | |
5 | g.13770899A>T | CA359204928 | DNAH5 | c.9455T>A (p.Phe3152Tyr) c.9410T>A (p.Phe3137Tyr) n.167T>A c.9563T>A (p.Phe3188Tyr) c.8468T>A (p.Phe2823Tyr) c.4652T>A (p.Phe1551Tyr) c.4205T>A (p.Phe1402Tyr) c.3542T>A (p.Phe1181Tyr) c.8057T>A (p.Phe2686Tyr) | |
5 | g.13770900A>C | CA359204934 | DNAH5 | c.9454T>G (p.Phe3152Val) c.9409T>G (p.Phe3137Val) n.166T>G c.9562T>G (p.Phe3188Val) c.8467T>G (p.Phe2823Val) c.4651T>G (p.Phe1551Val) c.4204T>G (p.Phe1402Val) c.3541T>G (p.Phe1181Val) c.8056T>G (p.Phe2686Val) | |
5 | g.13770900A>G | CA359204937 | DNAH5 | c.9454T>C (p.Phe3152Leu) c.9409T>C (p.Phe3137Leu) n.166T>C c.9562T>C (p.Phe3188Leu) c.8467T>C (p.Phe2823Leu) c.4651T>C (p.Phe1551Leu) c.4204T>C (p.Phe1402Leu) c.3541T>C (p.Phe1181Leu) c.8056T>C (p.Phe2686Leu) | |
5 | g.13770900A>T | CA359204938 | DNAH5 | c.9454T>A (p.Phe3152Ile) c.9409T>A (p.Phe3137Ile) n.166T>A c.9562T>A (p.Phe3188Ile) c.8467T>A (p.Phe2823Ile) c.4651T>A (p.Phe1551Ile) c.4204T>A (p.Phe1402Ile) c.3541T>A (p.Phe1181Ile) c.8056T>A (p.Phe2686Ile) | |
5 | g.13770901G>A | CA443535687 | DNAH5 | c.9453C>T (p.Ser3151=) c.9408C>T (p.Ser3136=) n.165C>T c.9561C>T (p.Ser3187=) c.8466C>T (p.Ser2822=) c.4650C>T (p.Ser1550=) c.4203C>T (p.Ser1401=) c.3540C>T (p.Ser1180=) c.8055C>T (p.Ser2685=) | dbSNP COSMIC |
5 | g.13770901G>C | CA443535689 | DNAH5 | c.9453C>G (p.Ser3151=) c.9408C>G (p.Ser3136=) n.165C>G c.9561C>G (p.Ser3187=) c.8466C>G (p.Ser2822=) c.4650C>G (p.Ser1550=) c.4203C>G (p.Ser1401=) c.3540C>G (p.Ser1180=) c.8055C>G (p.Ser2685=) | |
5 | g.13770901G= | CA1528431230 | DNAH5 | c.9453C= (p.Ser3151=) c.9408C= (p.Ser3136=) n.165C= c.9561C= (p.Ser3187=) c.8466C= (p.Ser2822=) c.4650C= (p.Ser1550=) c.4203C= (p.Ser1401=) c.3540C= (p.Ser1180=) c.8055C= (p.Ser2685=) | |
5 | g.13770901G>T | CA443535690 | DNAH5 | c.9453C>A (p.Ser3151=) c.9408C>A (p.Ser3136=) n.165C>A c.9561C>A (p.Ser3187=) c.8466C>A (p.Ser2822=) c.4650C>A (p.Ser1550=) c.4203C>A (p.Ser1401=) c.3540C>A (p.Ser1180=) c.8055C>A (p.Ser2685=) | |
5 | g.13770902G>A | CA359204942 | DNAH5 | c.9452C>T (p.Ser3151Phe) c.9407C>T (p.Ser3136Phe) n.164C>T c.9560C>T (p.Ser3187Phe) c.8465C>T (p.Ser2822Phe) c.4649C>T (p.Ser1550Phe) c.4202C>T (p.Ser1401Phe) c.3539C>T (p.Ser1180Phe) c.8054C>T (p.Ser2685Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770902G>C | CA359204944 | DNAH5 | c.9452C>G (p.Ser3151Cys) c.9407C>G (p.Ser3136Cys) n.164C>G c.9560C>G (p.Ser3187Cys) c.8465C>G (p.Ser2822Cys) c.4649C>G (p.Ser1550Cys) c.4202C>G (p.Ser1401Cys) c.3539C>G (p.Ser1180Cys) c.8054C>G (p.Ser2685Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770902G= | CA1528431231 | DNAH5 | c.9452C= (p.Ser3151=) c.9407C= (p.Ser3136=) n.164C= c.9560C= (p.Ser3187=) c.8465C= (p.Ser2822=) c.4649C= (p.Ser1550=) c.4202C= (p.Ser1401=) c.3539C= (p.Ser1180=) c.8054C= (p.Ser2685=) | |
5 | g.13770902G>T | CA359204951 | DNAH5 | c.9452C>A (p.Ser3151Tyr) c.9407C>A (p.Ser3136Tyr) n.164C>A c.9560C>A (p.Ser3187Tyr) c.8465C>A (p.Ser2822Tyr) c.4649C>A (p.Ser1550Tyr) c.4202C>A (p.Ser1401Tyr) c.3539C>A (p.Ser1180Tyr) c.8054C>A (p.Ser2685Tyr) | |
5 | g.13770903A= | CA1528431232 | DNAH5 | c.9451T= (p.Ser3151=) c.9406T= (p.Ser3136=) n.163T= c.9559T= (p.Ser3187=) c.8464T= (p.Ser2822=) c.4648T= (p.Ser1550=) c.4201T= (p.Ser1401=) c.3538T= (p.Ser1180=) c.8053T= (p.Ser2685=) | |
5 | g.13770903A>C | CA359204959 | DNAH5 | c.9451T>G (p.Ser3151Ala) c.9406T>G (p.Ser3136Ala) n.163T>G c.9559T>G (p.Ser3187Ala) c.8464T>G (p.Ser2822Ala) c.4648T>G (p.Ser1550Ala) c.4201T>G (p.Ser1401Ala) c.3538T>G (p.Ser1180Ala) c.8053T>G (p.Ser2685Ala) | |
5 | g.13770903A>G | CA359204960 | DNAH5 | c.9451T>C (p.Ser3151Pro) c.9406T>C (p.Ser3136Pro) n.163T>C c.9559T>C (p.Ser3187Pro) c.8464T>C (p.Ser2822Pro) c.4648T>C (p.Ser1550Pro) c.4201T>C (p.Ser1401Pro) c.3538T>C (p.Ser1180Pro) c.8053T>C (p.Ser2685Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770903A>T | CA359204953 | DNAH5 | c.9451T>A (p.Ser3151Thr) c.9406T>A (p.Ser3136Thr) n.163T>A c.9559T>A (p.Ser3187Thr) c.8464T>A (p.Ser2822Thr) c.4648T>A (p.Ser1550Thr) c.4201T>A (p.Ser1401Thr) c.3538T>A (p.Ser1180Thr) c.8053T>A (p.Ser2685Thr) | |
5 | g.13770904G>A | CA443535692 | DNAH5 | c.9450C>T (p.Gly3150=) c.9405C>T (p.Gly3135=) n.162C>T c.9558C>T (p.Gly3186=) c.8463C>T (p.Gly2821=) c.4647C>T (p.Gly1549=) c.4200C>T (p.Gly1400=) c.3537C>T (p.Gly1179=) c.8052C>T (p.Gly2684=) | ClinVar |
5 | g.13770904G>C | CA443535693 | DNAH5 | c.9450C>G (p.Gly3150=) c.9405C>G (p.Gly3135=) n.162C>G c.9558C>G (p.Gly3186=) c.8463C>G (p.Gly2821=) c.4647C>G (p.Gly1549=) c.4200C>G (p.Gly1400=) c.3537C>G (p.Gly1179=) c.8052C>G (p.Gly2684=) | |
5 | g.13770904G>T | CA443535694 | DNAH5 | c.9450C>A (p.Gly3150=) c.9405C>A (p.Gly3135=) n.162C>A c.9558C>A (p.Gly3186=) c.8463C>A (p.Gly2821=) c.4647C>A (p.Gly1549=) c.4200C>A (p.Gly1400=) c.3537C>A (p.Gly1179=) c.8052C>A (p.Gly2684=) | gnomAD v4 |
5 | g.13770904_13770905delinsGC | CA1528431233 | DNAH5 | c.9449_9450delinsGC (p.Gly3150=) c.9404_9405delinsGC (p.Gly3135=) n.161_162delinsGC c.9557_9558delinsGC (p.Gly3186=) c.8462_8463delinsGC (p.Gly2821=) c.4646_4647delinsGC (p.Gly1549=) c.4199_4200delinsGC (p.Gly1400=) c.3536_3537delinsGC (p.Gly1179=) c.8051_8052delinsGC (p.Gly2684=) | |
5 | g.13770905C>A | CA359204962 | DNAH5 | c.9449G>T (p.Gly3150Val) c.9404G>T (p.Gly3135Val) n.161G>T c.9557G>T (p.Gly3186Val) c.8462G>T (p.Gly2821Val) c.4646G>T (p.Gly1549Val) c.4199G>T (p.Gly1400Val) c.3536G>T (p.Gly1179Val) c.8051G>T (p.Gly2684Val) | |
5 | g.13770905C>G | CA359204965 | DNAH5 | c.9449G>C (p.Gly3150Ala) c.9404G>C (p.Gly3135Ala) n.161G>C c.9557G>C (p.Gly3186Ala) c.8462G>C (p.Gly2821Ala) c.4646G>C (p.Gly1549Ala) c.4199G>C (p.Gly1400Ala) c.3536G>C (p.Gly1179Ala) c.8051G>C (p.Gly2684Ala) | |
5 | g.13770905C>T | CA359204970 | DNAH5 | c.9449G>A (p.Gly3150Asp) c.9404G>A (p.Gly3135Asp) n.161G>A c.9557G>A (p.Gly3186Asp) c.8462G>A (p.Gly2821Asp) c.4646G>A (p.Gly1549Asp) c.4199G>A (p.Gly1400Asp) c.3536G>A (p.Gly1179Asp) c.8051G>A (p.Gly2684Asp) | |
5 | g.13770907del | CA273615 | DNAH5 | c.9449del (p.Gly3150AlafsTer24) c.9404del (p.Gly3135AlafsTer24) n.161del c.9557del (p.Gly3186AlafsTer24) c.8462del (p.Gly2821AlafsTer24) c.4646del (p.Gly1549AlafsTer24) c.4199del (p.Gly1400AlafsTer24) c.3536del (p.Gly1179AlafsTer24) c.8051del (p.Gly2684AlafsTer24) | ClinVar dbSNP |
5 | g.13770906C>A | CA359204974 | DNAH5 | c.9448G>T (p.Gly3150Cys) c.9403G>T (p.Gly3135Cys) n.160G>T c.9556G>T (p.Gly3186Cys) c.8461G>T (p.Gly2821Cys) c.4645G>T (p.Gly1549Cys) c.4198G>T (p.Gly1400Cys) c.3535G>T (p.Gly1179Cys) c.8050G>T (p.Gly2684Cys) | |
5 | g.13770906C>G | CA359204977 | DNAH5 | c.9448G>C (p.Gly3150Arg) c.9403G>C (p.Gly3135Arg) n.160G>C c.9556G>C (p.Gly3186Arg) c.8461G>C (p.Gly2821Arg) c.4645G>C (p.Gly1549Arg) c.4198G>C (p.Gly1400Arg) c.3535G>C (p.Gly1179Arg) c.8050G>C (p.Gly2684Arg) | |
5 | g.13770906C>T | CA359204980 | DNAH5 | c.9448G>A (p.Gly3150Ser) c.9403G>A (p.Gly3135Ser) n.160G>A c.9556G>A (p.Gly3186Ser) c.8461G>A (p.Gly2821Ser) c.4645G>A (p.Gly1549Ser) c.4198G>A (p.Gly1400Ser) c.3535G>A (p.Gly1179Ser) c.8050G>A (p.Gly2684Ser) | |
5 | g.13770907C>A | CA359204981 | DNAH5 | c.9447G>T (p.Met3149Ile) c.9402G>T (p.Met3134Ile) n.159G>T c.9555G>T (p.Met3185Ile) c.8460G>T (p.Met2820Ile) c.4644G>T (p.Met1548Ile) c.4197G>T (p.Met1399Ile) c.3534G>T (p.Met1178Ile) c.8049G>T (p.Met2683Ile) | |
5 | g.13770907C>G | CA359204983 | DNAH5 | c.9447G>C (p.Met3149Ile) c.9402G>C (p.Met3134Ile) n.159G>C c.9555G>C (p.Met3185Ile) c.8460G>C (p.Met2820Ile) c.4644G>C (p.Met1548Ile) c.4197G>C (p.Met1399Ile) c.3534G>C (p.Met1178Ile) c.8049G>C (p.Met2683Ile) | |
5 | g.13770907C>T | CA359204985 | DNAH5 | c.9447G>A (p.Met3149Ile) c.9402G>A (p.Met3134Ile) n.159G>A c.9555G>A (p.Met3185Ile) c.8460G>A (p.Met2820Ile) c.4644G>A (p.Met1548Ile) c.4197G>A (p.Met1399Ile) c.3534G>A (p.Met1178Ile) c.8049G>A (p.Met2683Ile) | gnomAD v4 |
5 | g.13770908A>C | CA359204988 | DNAH5 | c.9446T>G (p.Met3149Arg) c.9401T>G (p.Met3134Arg) n.158T>G c.9554T>G (p.Met3185Arg) c.8459T>G (p.Met2820Arg) c.4643T>G (p.Met1548Arg) c.4196T>G (p.Met1399Arg) c.3533T>G (p.Met1178Arg) c.8048T>G (p.Met2683Arg) | |
5 | g.13770908A>G | CA359204990 | DNAH5 | c.9446T>C (p.Met3149Thr) c.9401T>C (p.Met3134Thr) n.158T>C c.9554T>C (p.Met3185Thr) c.8459T>C (p.Met2820Thr) c.4643T>C (p.Met1548Thr) c.4196T>C (p.Met1399Thr) c.3533T>C (p.Met1178Thr) c.8048T>C (p.Met2683Thr) | |
5 | g.13770908A>T | CA359204999 | DNAH5 | c.9446T>A (p.Met3149Lys) c.9401T>A (p.Met3134Lys) n.158T>A c.9554T>A (p.Met3185Lys) c.8459T>A (p.Met2820Lys) c.4643T>A (p.Met1548Lys) c.4196T>A (p.Met1399Lys) c.3533T>A (p.Met1178Lys) c.8048T>A (p.Met2683Lys) | |
5 | g.13770909T>A | CA359205007 | DNAH5 | c.9445A>T (p.Met3149Leu) c.9400A>T (p.Met3134Leu) n.157A>T c.9553A>T (p.Met3185Leu) c.8458A>T (p.Met2820Leu) c.4642A>T (p.Met1548Leu) c.4195A>T (p.Met1399Leu) c.3532A>T (p.Met1178Leu) c.8047A>T (p.Met2683Leu) | gnomAD v4 |
5 | g.13770909T>C | CA359205005 | DNAH5 | c.9445A>G (p.Met3149Val) c.9400A>G (p.Met3134Val) n.157A>G c.9553A>G (p.Met3185Val) c.8458A>G (p.Met2820Val) c.4642A>G (p.Met1548Val) c.4195A>G (p.Met1399Val) c.3532A>G (p.Met1178Val) c.8047A>G (p.Met2683Val) | |
5 | g.13770909T>G | CA359205002 | DNAH5 | c.9445A>C (p.Met3149Leu) c.9400A>C (p.Met3134Leu) n.157A>C c.9553A>C (p.Met3185Leu) c.8458A>C (p.Met2820Leu) c.4642A>C (p.Met1548Leu) c.4195A>C (p.Met1399Leu) c.3532A>C (p.Met1178Leu) c.8047A>C (p.Met2683Leu) | |
5 | g.13770910G>A | CA3202543 | DNAH5 | c.9444C>T (p.Cys3148=) c.9399C>T (p.Cys3133=) n.156C>T c.9552C>T (p.Cys3184=) c.8457C>T (p.Cys2819=) c.4641C>T (p.Cys1547=) c.4194C>T (p.Cys1398=) c.3531C>T (p.Cys1177=) c.8046C>T (p.Cys2682=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13770910G>C | CA359205015 | DNAH5 | c.9444C>G (p.Cys3148Trp) c.9399C>G (p.Cys3133Trp) n.156C>G c.9552C>G (p.Cys3184Trp) c.8457C>G (p.Cys2819Trp) c.4641C>G (p.Cys1547Trp) c.4194C>G (p.Cys1398Trp) c.3531C>G (p.Cys1177Trp) c.8046C>G (p.Cys2682Trp) | gnomAD v4 |
5 | g.13770910G= | CA1528431234 | DNAH5 | c.9444C= (p.Cys3148=) c.9399C= (p.Cys3133=) n.156C= c.9552C= (p.Cys3184=) c.8457C= (p.Cys2819=) c.4641C= (p.Cys1547=) c.4194C= (p.Cys1398=) c.3531C= (p.Cys1177=) c.8046C= (p.Cys2682=) | |
5 | g.13770910G>T | CA359205019 | DNAH5 | c.9444C>A (p.Cys3148Ter) c.9399C>A (p.Cys3133Ter) n.156C>A c.9552C>A (p.Cys3184Ter) c.8457C>A (p.Cys2819Ter) c.4641C>A (p.Cys1547Ter) c.4194C>A (p.Cys1398Ter) c.3531C>A (p.Cys1177Ter) c.8046C>A (p.Cys2682Ter) | |
5 | g.13770911C>A | CA359205020 | DNAH5 | c.9443G>T (p.Cys3148Phe) c.9398G>T (p.Cys3133Phe) n.155G>T c.9551G>T (p.Cys3184Phe) c.8456G>T (p.Cys2819Phe) c.4640G>T (p.Cys1547Phe) c.4193G>T (p.Cys1398Phe) c.3530G>T (p.Cys1177Phe) c.8045G>T (p.Cys2682Phe) | gnomAD v4 |
5 | g.13770911C>G | CA359205023 | DNAH5 | c.9443G>C (p.Cys3148Ser) c.9398G>C (p.Cys3133Ser) n.155G>C c.9551G>C (p.Cys3184Ser) c.8456G>C (p.Cys2819Ser) c.4640G>C (p.Cys1547Ser) c.4193G>C (p.Cys1398Ser) c.3530G>C (p.Cys1177Ser) c.8045G>C (p.Cys2682Ser) | |
5 | g.13770911C>T | CA359205026 | DNAH5 | c.9443G>A (p.Cys3148Tyr) c.9398G>A (p.Cys3133Tyr) n.155G>A c.9551G>A (p.Cys3184Tyr) c.8456G>A (p.Cys2819Tyr) c.4640G>A (p.Cys1547Tyr) c.4193G>A (p.Cys1398Tyr) c.3530G>A (p.Cys1177Tyr) c.8045G>A (p.Cys2682Tyr) | |
5 | g.13770912A>C | CA359205027 | DNAH5 | c.9442T>G (p.Cys3148Gly) c.9397T>G (p.Cys3133Gly) n.154T>G c.9550T>G (p.Cys3184Gly) c.8455T>G (p.Cys2819Gly) c.4639T>G (p.Cys1547Gly) c.4192T>G (p.Cys1398Gly) c.3529T>G (p.Cys1177Gly) c.8044T>G (p.Cys2682Gly) | |
5 | g.13770912A>G | CA359205028 | DNAH5 | c.9442T>C (p.Cys3148Arg) c.9397T>C (p.Cys3133Arg) n.154T>C c.9550T>C (p.Cys3184Arg) c.8455T>C (p.Cys2819Arg) c.4639T>C (p.Cys1547Arg) c.4192T>C (p.Cys1398Arg) c.3529T>C (p.Cys1177Arg) c.8044T>C (p.Cys2682Arg) | |
5 | g.13770912A>T | CA359205030 | DNAH5 | c.9442T>A (p.Cys3148Ser) c.9397T>A (p.Cys3133Ser) n.154T>A c.9550T>A (p.Cys3184Ser) c.8455T>A (p.Cys2819Ser) c.4639T>A (p.Cys1547Ser) c.4192T>A (p.Cys1398Ser) c.3529T>A (p.Cys1177Ser) c.8044T>A (p.Cys2682Ser) | |
5 | g.13770913T>A | CA359205032 | DNAH5 | c.9441A>T (p.Gln3147His) c.9396A>T (p.Gln3132His) n.153A>T c.9549A>T (p.Gln3183His) c.8454A>T (p.Gln2818His) c.4638A>T (p.Gln1546His) c.4191A>T (p.Gln1397His) c.3528A>T (p.Gln1176His) c.8043A>T (p.Gln2681His) | |
5 | g.13770913T>C | CA443535710 | DNAH5 | c.9441A>G (p.Gln3147=) c.9396A>G (p.Gln3132=) n.153A>G c.9549A>G (p.Gln3183=) c.8454A>G (p.Gln2818=) c.4638A>G (p.Gln1546=) c.4191A>G (p.Gln1397=) c.3528A>G (p.Gln1176=) c.8043A>G (p.Gln2681=) | gnomAD v4 |
5 | g.13770913T>G | CA359205034 | DNAH5 | c.9441A>C (p.Gln3147His) c.9396A>C (p.Gln3132His) n.153A>C c.9549A>C (p.Gln3183His) c.8454A>C (p.Gln2818His) c.4638A>C (p.Gln1546His) c.4191A>C (p.Gln1397His) c.3528A>C (p.Gln1176His) c.8043A>C (p.Gln2681His) | |
5 | g.13770914T>A | CA359205037 | DNAH5 | c.9440A>T (p.Gln3147Leu) c.9395A>T (p.Gln3132Leu) n.152A>T c.9548A>T (p.Gln3183Leu) c.8453A>T (p.Gln2818Leu) c.4637A>T (p.Gln1546Leu) c.4190A>T (p.Gln1397Leu) c.3527A>T (p.Gln1176Leu) c.8042A>T (p.Gln2681Leu) | |
5 | g.13770914T>C | CA359205038 | DNAH5 | c.9440A>G (p.Gln3147Arg) c.9395A>G (p.Gln3132Arg) n.152A>G c.9548A>G (p.Gln3183Arg) c.8453A>G (p.Gln2818Arg) c.4637A>G (p.Gln1546Arg) c.4190A>G (p.Gln1397Arg) c.3527A>G (p.Gln1176Arg) c.8042A>G (p.Gln2681Arg) | |
5 | g.13770914T>G | CA359205041 | DNAH5 | c.9440A>C (p.Gln3147Pro) c.9395A>C (p.Gln3132Pro) n.152A>C c.9548A>C (p.Gln3183Pro) c.8453A>C (p.Gln2818Pro) c.4637A>C (p.Gln1546Pro) c.4190A>C (p.Gln1397Pro) c.3527A>C (p.Gln1176Pro) c.8042A>C (p.Gln2681Pro) | |
5 | g.13770915G>A | CA359205047 | DNAH5 | c.9439C>T (p.Gln3147Ter) c.9394C>T (p.Gln3132Ter) n.151C>T c.9547C>T (p.Gln3183Ter) c.8452C>T (p.Gln2818Ter) c.4636C>T (p.Gln1546Ter) c.4189C>T (p.Gln1397Ter) c.3526C>T (p.Gln1176Ter) c.8041C>T (p.Gln2681Ter) | COSMIC |
5 | g.13770915G>C | CA359205054 | DNAH5 | c.9439C>G (p.Gln3147Glu) c.9394C>G (p.Gln3132Glu) n.151C>G c.9547C>G (p.Gln3183Glu) c.8452C>G (p.Gln2818Glu) c.4636C>G (p.Gln1546Glu) c.4189C>G (p.Gln1397Glu) c.3526C>G (p.Gln1176Glu) c.8041C>G (p.Gln2681Glu) | |
5 | g.13770915G>T | CA359205044 | DNAH5 | c.9439C>A (p.Gln3147Lys) c.9394C>A (p.Gln3132Lys) n.151C>A c.9547C>A (p.Gln3183Lys) c.8452C>A (p.Gln2818Lys) c.4636C>A (p.Gln1546Lys) c.4189C>A (p.Gln1397Lys) c.3526C>A (p.Gln1176Lys) c.8041C>A (p.Gln2681Lys) | |
5 | g.13770916G>A | CA443535719 | DNAH5 | c.9438C>T (p.Val3146=) c.9393C>T (p.Val3131=) n.150C>T c.9546C>T (p.Val3182=) c.8451C>T (p.Val2817=) c.4635C>T (p.Val1545=) c.4188C>T (p.Val1396=) c.3525C>T (p.Val1175=) c.8040C>T (p.Val2680=) | |
5 | g.13770916G>C | CA443535720 | DNAH5 | c.9438C>G (p.Val3146=) c.9393C>G (p.Val3131=) n.150C>G c.9546C>G (p.Val3182=) c.8451C>G (p.Val2817=) c.4635C>G (p.Val1545=) c.4188C>G (p.Val1396=) c.3525C>G (p.Val1175=) c.8040C>G (p.Val2680=) | |
5 | g.13770916G>T | CA443535721 | DNAH5 | c.9438C>A (p.Val3146=) c.9393C>A (p.Val3131=) n.150C>A c.9546C>A (p.Val3182=) c.8451C>A (p.Val2817=) c.4635C>A (p.Val1545=) c.4188C>A (p.Val1396=) c.3525C>A (p.Val1175=) c.8040C>A (p.Val2680=) | |
5 | g.13770917A= | CA1528431235 | DNAH5 | c.9437T= (p.Val3146=) c.9392T= (p.Val3131=) n.149T= c.9545T= (p.Val3182=) c.8450T= (p.Val2817=) c.4634T= (p.Val1545=) c.4187T= (p.Val1396=) c.3524T= (p.Val1175=) c.8039T= (p.Val2680=) | |
5 | g.13770917A>C | CA359205057 | DNAH5 | c.9437T>G (p.Val3146Gly) c.9392T>G (p.Val3131Gly) n.149T>G c.9545T>G (p.Val3182Gly) c.8450T>G (p.Val2817Gly) c.4634T>G (p.Val1545Gly) c.4187T>G (p.Val1396Gly) c.3524T>G (p.Val1175Gly) c.8039T>G (p.Val2680Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770917A>G | CA359205069 | DNAH5 | c.9437T>C (p.Val3146Ala) c.9392T>C (p.Val3131Ala) n.149T>C c.9545T>C (p.Val3182Ala) c.8450T>C (p.Val2817Ala) c.4634T>C (p.Val1545Ala) c.4187T>C (p.Val1396Ala) c.3524T>C (p.Val1175Ala) c.8039T>C (p.Val2680Ala) | |
5 | g.13770917A>T | CA359205073 | DNAH5 | c.9437T>A (p.Val3146Asp) c.9392T>A (p.Val3131Asp) n.149T>A c.9545T>A (p.Val3182Asp) c.8450T>A (p.Val2817Asp) c.4634T>A (p.Val1545Asp) c.4187T>A (p.Val1396Asp) c.3524T>A (p.Val1175Asp) c.8039T>A (p.Val2680Asp) | |
5 | g.13770918C>A | CA359205077 | DNAH5 | c.9436G>T (p.Val3146Phe) c.9391G>T (p.Val3131Phe) n.148G>T c.9544G>T (p.Val3182Phe) c.8449G>T (p.Val2817Phe) c.4633G>T (p.Val1545Phe) c.4186G>T (p.Val1396Phe) c.3523G>T (p.Val1175Phe) c.8038G>T (p.Val2680Phe) | |
5 | g.13770918C>G | CA359205079 | DNAH5 | c.9436G>C (p.Val3146Leu) c.9391G>C (p.Val3131Leu) n.148G>C c.9544G>C (p.Val3182Leu) c.8449G>C (p.Val2817Leu) c.4633G>C (p.Val1545Leu) c.4186G>C (p.Val1396Leu) c.3523G>C (p.Val1175Leu) c.8038G>C (p.Val2680Leu) | |
5 | g.13770918C>T | CA359205081 | DNAH5 | c.9436G>A (p.Val3146Ile) c.9391G>A (p.Val3131Ile) n.148G>A c.9544G>A (p.Val3182Ile) c.8449G>A (p.Val2817Ile) c.4633G>A (p.Val1545Ile) c.4186G>A (p.Val1396Ile) c.3523G>A (p.Val1175Ile) c.8038G>A (p.Val2680Ile) | COSMIC |
5 | g.13770919C>A | CA443535731 | DNAH5 | c.9435G>T (p.Val3145=) c.9390G>T (p.Val3130=) n.147G>T c.9543G>T (p.Val3181=) c.8448G>T (p.Val2816=) c.4632G>T (p.Val1544=) c.4185G>T (p.Val1395=) c.3522G>T (p.Val1174=) c.8037G>T (p.Val2679=) | |
5 | g.13770919C>G | CA443535734 | DNAH5 | c.9435G>C (p.Val3145=) c.9390G>C (p.Val3130=) n.147G>C c.9543G>C (p.Val3181=) c.8448G>C (p.Val2816=) c.4632G>C (p.Val1544=) c.4185G>C (p.Val1395=) c.3522G>C (p.Val1174=) c.8037G>C (p.Val2679=) | |
5 | g.13770919C>T | CA443535737 | DNAH5 | c.9435G>A (p.Val3145=) c.9390G>A (p.Val3130=) n.147G>A c.9543G>A (p.Val3181=) c.8448G>A (p.Val2816=) c.4632G>A (p.Val1544=) c.4185G>A (p.Val1395=) c.3522G>A (p.Val1174=) c.8037G>A (p.Val2679=) | |
5 | g.13770920A>C | CA359205092 | DNAH5 | c.9434T>G (p.Val3145Gly) c.9389T>G (p.Val3130Gly) n.146T>G c.9542T>G (p.Val3181Gly) c.8447T>G (p.Val2816Gly) c.4631T>G (p.Val1544Gly) c.4184T>G (p.Val1395Gly) c.3521T>G (p.Val1174Gly) c.8036T>G (p.Val2679Gly) | |
5 | g.13770920A>G | CA359205086 | DNAH5 | c.9434T>C (p.Val3145Ala) c.9389T>C (p.Val3130Ala) n.146T>C c.9542T>C (p.Val3181Ala) c.8447T>C (p.Val2816Ala) c.4631T>C (p.Val1544Ala) c.4184T>C (p.Val1395Ala) c.3521T>C (p.Val1174Ala) c.8036T>C (p.Val2679Ala) | |
5 | g.13770920A>T | CA359205088 | DNAH5 | c.9434T>A (p.Val3145Glu) c.9389T>A (p.Val3130Glu) n.146T>A c.9542T>A (p.Val3181Glu) c.8447T>A (p.Val2816Glu) c.4631T>A (p.Val1544Glu) c.4184T>A (p.Val1395Glu) c.3521T>A (p.Val1174Glu) c.8036T>A (p.Val2679Glu) | |
5 | g.13770921C>A | CA359205095 | DNAH5 | c.9433G>T (p.Val3145Leu) c.9388G>T (p.Val3130Leu) n.145G>T c.9541G>T (p.Val3181Leu) c.8446G>T (p.Val2816Leu) c.4630G>T (p.Val1544Leu) c.4183G>T (p.Val1395Leu) c.3520G>T (p.Val1174Leu) c.8035G>T (p.Val2679Leu) | |
5 | g.13770921C>G | CA359205100 | DNAH5 | c.9433G>C (p.Val3145Leu) c.9388G>C (p.Val3130Leu) n.145G>C c.9541G>C (p.Val3181Leu) c.8446G>C (p.Val2816Leu) c.4630G>C (p.Val1544Leu) c.4183G>C (p.Val1395Leu) c.3520G>C (p.Val1174Leu) c.8035G>C (p.Val2679Leu) | |
5 | g.13770921C>T | CA359205102 | DNAH5 | c.9433G>A (p.Val3145Met) c.9388G>A (p.Val3130Met) n.145G>A c.9541G>A (p.Val3181Met) c.8446G>A (p.Val2816Met) c.4630G>A (p.Val1544Met) c.4183G>A (p.Val1395Met) c.3520G>A (p.Val1174Met) c.8035G>A (p.Val2679Met) | |
5 | g.13770922C>A | CA359205105 | DNAH5 | c.9432G>T (p.Glu3144Asp) c.9387G>T (p.Glu3129Asp) n.144G>T c.9540G>T (p.Glu3180Asp) c.8445G>T (p.Glu2815Asp) c.4629G>T (p.Glu1543Asp) c.4182G>T (p.Glu1394Asp) c.3519G>T (p.Glu1173Asp) c.8034G>T (p.Glu2678Asp) | |
5 | g.13770922C= | CA1528431236 | DNAH5 | c.9432G= (p.Glu3144=) c.9387G= (p.Glu3129=) n.144G= c.9540G= (p.Glu3180=) c.8445G= (p.Glu2815=) c.4629G= (p.Glu1543=) c.4182G= (p.Glu1394=) c.3519G= (p.Glu1173=) c.8034G= (p.Glu2678=) | |
5 | g.13770922C>G | CA359205107 | DNAH5 | c.9432G>C (p.Glu3144Asp) c.9387G>C (p.Glu3129Asp) n.144G>C c.9540G>C (p.Glu3180Asp) c.8445G>C (p.Glu2815Asp) c.4629G>C (p.Glu1543Asp) c.4182G>C (p.Glu1394Asp) c.3519G>C (p.Glu1173Asp) c.8034G>C (p.Glu2678Asp) | |
5 | g.13770922C>T | CA443535753 | DNAH5 | c.9432G>A (p.Glu3144=) c.9387G>A (p.Glu3129=) n.144G>A c.9540G>A (p.Glu3180=) c.8445G>A (p.Glu2815=) c.4629G>A (p.Glu1543=) c.4182G>A (p.Glu1394=) c.3519G>A (p.Glu1173=) c.8034G>A (p.Glu2678=) | ClinVar dbSNP gnomAD v4 |
5 | g.13770923T>A | CA359205110 | DNAH5 | c.9431A>T (p.Glu3144Val) c.9386A>T (p.Glu3129Val) n.143A>T c.9539A>T (p.Glu3180Val) c.8444A>T (p.Glu2815Val) c.4628A>T (p.Glu1543Val) c.4181A>T (p.Glu1394Val) c.3518A>T (p.Glu1173Val) c.8033A>T (p.Glu2678Val) | |
5 | g.13770923T>C | CA359205114 | DNAH5 | c.9431A>G (p.Glu3144Gly) c.9386A>G (p.Glu3129Gly) n.143A>G c.9539A>G (p.Glu3180Gly) c.8444A>G (p.Glu2815Gly) c.4628A>G (p.Glu1543Gly) c.4181A>G (p.Glu1394Gly) c.3518A>G (p.Glu1173Gly) c.8033A>G (p.Glu2678Gly) | |
5 | g.13770923T>G | CA359205112 | DNAH5 | c.9431A>C (p.Glu3144Ala) c.9386A>C (p.Glu3129Ala) n.143A>C c.9539A>C (p.Glu3180Ala) c.8444A>C (p.Glu2815Ala) c.4628A>C (p.Glu1543Ala) c.4181A>C (p.Glu1394Ala) c.3518A>C (p.Glu1173Ala) c.8033A>C (p.Glu2678Ala) | |
5 | g.13770924C>A | CA359205117 | DNAH5 | c.9430G>T (p.Glu3144Ter) c.9385G>T (p.Glu3129Ter) n.142G>T c.9538G>T (p.Glu3180Ter) c.8443G>T (p.Glu2815Ter) c.4627G>T (p.Glu1543Ter) c.4180G>T (p.Glu1394Ter) c.3517G>T (p.Glu1173Ter) c.8032G>T (p.Glu2678Ter) | |
5 | g.13770924C>G | CA359205120 | DNAH5 | c.9430G>C (p.Glu3144Gln) c.9385G>C (p.Glu3129Gln) n.142G>C c.9538G>C (p.Glu3180Gln) c.8443G>C (p.Glu2815Gln) c.4627G>C (p.Glu1543Gln) c.4180G>C (p.Glu1394Gln) c.3517G>C (p.Glu1173Gln) c.8032G>C (p.Glu2678Gln) | dbSNP |
5 | g.13770924C>T | CA359205123 | DNAH5 | c.9430G>A (p.Glu3144Lys) c.9385G>A (p.Glu3129Lys) n.142G>A c.9538G>A (p.Glu3180Lys) c.8443G>A (p.Glu2815Lys) c.4627G>A (p.Glu1543Lys) c.4180G>A (p.Glu1394Lys) c.3517G>A (p.Glu1173Lys) c.8032G>A (p.Glu2678Lys) | COSMIC |
5 | g.13770925C>A | CA3202544 | DNAH5 | c.9429G>T (p.Lys3143Asn) c.9384G>T (p.Lys3128Asn) n.141G>T c.9537G>T (p.Lys3179Asn) c.8442G>T (p.Lys2814Asn) c.4626G>T (p.Lys1542Asn) c.4179G>T (p.Lys1393Asn) c.3516G>T (p.Lys1172Asn) c.8031G>T (p.Lys2677Asn) | dbSNP ExAC gnomAD v2 |
5 | g.13770925C= | CA1528431237 | DNAH5 | c.9429G= (p.Lys3143=) c.9384G= (p.Lys3128=) n.141G= c.9537G= (p.Lys3179=) c.8442G= (p.Lys2814=) c.4626G= (p.Lys1542=) c.4179G= (p.Lys1393=) c.3516G= (p.Lys1172=) c.8031G= (p.Lys2677=) | |
5 | g.13770925C>G | CA359205127 | DNAH5 | c.9429G>C (p.Lys3143Asn) c.9384G>C (p.Lys3128Asn) n.141G>C c.9537G>C (p.Lys3179Asn) c.8442G>C (p.Lys2814Asn) c.4626G>C (p.Lys1542Asn) c.4179G>C (p.Lys1393Asn) c.3516G>C (p.Lys1172Asn) c.8031G>C (p.Lys2677Asn) | |
5 | g.13770925C>T | CA443535768 | DNAH5 | c.9429G>A (p.Lys3143=) c.9384G>A (p.Lys3128=) n.141G>A c.9537G>A (p.Lys3179=) c.8442G>A (p.Lys2814=) c.4626G>A (p.Lys1542=) c.4179G>A (p.Lys1393=) c.3516G>A (p.Lys1172=) c.8031G>A (p.Lys2677=) | gnomAD v4 |
5 | g.13770926T>A | CA359205131 | DNAH5 | c.9428A>T (p.Lys3143Met) c.9383A>T (p.Lys3128Met) n.140A>T c.9536A>T (p.Lys3179Met) c.8441A>T (p.Lys2814Met) c.4625A>T (p.Lys1542Met) c.4178A>T (p.Lys1393Met) c.3515A>T (p.Lys1172Met) c.8030A>T (p.Lys2677Met) | |
5 | g.13770926T>C | CA359205133 | DNAH5 | c.9428A>G (p.Lys3143Arg) c.9383A>G (p.Lys3128Arg) n.140A>G c.9536A>G (p.Lys3179Arg) c.8441A>G (p.Lys2814Arg) c.4625A>G (p.Lys1542Arg) c.4178A>G (p.Lys1393Arg) c.3515A>G (p.Lys1172Arg) c.8030A>G (p.Lys2677Arg) | |
5 | g.13770926T>G | CA359205136 | DNAH5 | c.9428A>C (p.Lys3143Thr) c.9383A>C (p.Lys3128Thr) n.140A>C c.9536A>C (p.Lys3179Thr) c.8441A>C (p.Lys2814Thr) c.4625A>C (p.Lys1542Thr) c.4178A>C (p.Lys1393Thr) c.3515A>C (p.Lys1172Thr) c.8030A>C (p.Lys2677Thr) | |
5 | g.13770927T>A | CA3202545 | DNAH5 | c.9427A>T (p.Lys3143Ter) c.9382A>T (p.Lys3128Ter) n.139A>T c.9535A>T (p.Lys3179Ter) c.8440A>T (p.Lys2814Ter) c.4624A>T (p.Lys1542Ter) c.4177A>T (p.Lys1393Ter) c.3514A>T (p.Lys1172Ter) c.8029A>T (p.Lys2677Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.13770927T>C | CA359205139 | DNAH5 | c.9427A>G (p.Lys3143Glu) c.9382A>G (p.Lys3128Glu) n.139A>G c.9535A>G (p.Lys3179Glu) c.8440A>G (p.Lys2814Glu) c.4624A>G (p.Lys1542Glu) c.4177A>G (p.Lys1393Glu) c.3514A>G (p.Lys1172Glu) c.8029A>G (p.Lys2677Glu) | dbSNP gnomAD v4 |
5 | g.13770927T>G | CA359205141 | DNAH5 | c.9427A>C (p.Lys3143Gln) c.9382A>C (p.Lys3128Gln) n.139A>C c.9535A>C (p.Lys3179Gln) c.8440A>C (p.Lys2814Gln) c.4624A>C (p.Lys1542Gln) c.4177A>C (p.Lys1393Gln) c.3514A>C (p.Lys1172Gln) c.8029A>C (p.Lys2677Gln) | |
5 | g.13770927T= | CA1528431238 | DNAH5 | c.9427A= (p.Lys3143=) c.9382A= (p.Lys3128=) n.139A= c.9535A= (p.Lys3179=) c.8440A= (p.Lys2814=) c.4624A= (p.Lys1542=) c.4177A= (p.Lys1393=) c.3514A= (p.Lys1172=) c.8029A= (p.Lys2677=) | |
5 | g.13770928C>A | CA359205143 | DNAH5 | c.9426G>T (p.Lys3142Asn) c.9381G>T (p.Lys3127Asn) n.138G>T c.9534G>T (p.Lys3178Asn) c.8439G>T (p.Lys2813Asn) c.4623G>T (p.Lys1541Asn) c.4176G>T (p.Lys1392Asn) c.3513G>T (p.Lys1171Asn) c.8028G>T (p.Lys2676Asn) | |
5 | g.13770928C>G | CA359205146 | DNAH5 | c.9426G>C (p.Lys3142Asn) c.9381G>C (p.Lys3127Asn) n.138G>C c.9534G>C (p.Lys3178Asn) c.8439G>C (p.Lys2813Asn) c.4623G>C (p.Lys1541Asn) c.4176G>C (p.Lys1392Asn) c.3513G>C (p.Lys1171Asn) c.8028G>C (p.Lys2676Asn) | |
5 | g.13770928C>T | CA443535425 | DNAH5 | c.9426G>A (p.Lys3142=) c.9381G>A (p.Lys3127=) n.138G>A c.9534G>A (p.Lys3178=) c.8439G>A (p.Lys2813=) c.4623G>A (p.Lys1541=) c.4176G>A (p.Lys1392=) c.3513G>A (p.Lys1171=) c.8028G>A (p.Lys2676=) | |
5 | g.13770929T>A | CA359205148 | DNAH5 | c.9425A>T (p.Lys3142Met) c.9380A>T (p.Lys3127Met) n.137A>T c.9533A>T (p.Lys3178Met) c.8438A>T (p.Lys2813Met) c.4622A>T (p.Lys1541Met) c.4175A>T (p.Lys1392Met) c.3512A>T (p.Lys1171Met) c.8027A>T (p.Lys2676Met) | |
5 | g.13770929T>C | CA359205153 | DNAH5 | c.9425A>G (p.Lys3142Arg) c.9380A>G (p.Lys3127Arg) n.137A>G c.9533A>G (p.Lys3178Arg) c.8438A>G (p.Lys2813Arg) c.4622A>G (p.Lys1541Arg) c.4175A>G (p.Lys1392Arg) c.3512A>G (p.Lys1171Arg) c.8027A>G (p.Lys2676Arg) | |
5 | g.13770929T>G | CA359205150 | DNAH5 | c.9425A>C (p.Lys3142Thr) c.9380A>C (p.Lys3127Thr) n.137A>C c.9533A>C (p.Lys3178Thr) c.8438A>C (p.Lys2813Thr) c.4622A>C (p.Lys1541Thr) c.4175A>C (p.Lys1392Thr) c.3512A>C (p.Lys1171Thr) c.8027A>C (p.Lys2676Thr) | COSMIC |
5 | g.13770930T>A | CA359205156 | DNAH5 | c.9424A>T (p.Lys3142Ter) c.9379A>T (p.Lys3127Ter) n.136A>T c.9532A>T (p.Lys3178Ter) c.8437A>T (p.Lys2813Ter) c.4621A>T (p.Lys1541Ter) c.4174A>T (p.Lys1392Ter) c.3511A>T (p.Lys1171Ter) c.8026A>T (p.Lys2676Ter) | |
5 | g.13770930T>C | CA359205159 | DNAH5 | c.9424A>G (p.Lys3142Glu) c.9379A>G (p.Lys3127Glu) n.136A>G c.9532A>G (p.Lys3178Glu) c.8437A>G (p.Lys2813Glu) c.4621A>G (p.Lys1541Glu) c.4174A>G (p.Lys1392Glu) c.3511A>G (p.Lys1171Glu) c.8026A>G (p.Lys2676Glu) | dbSNP gnomAD v4 |
5 | g.13770930T>G | CA359205157 | DNAH5 | c.9424A>C (p.Lys3142Gln) c.9379A>C (p.Lys3127Gln) n.136A>C c.9532A>C (p.Lys3178Gln) c.8437A>C (p.Lys2813Gln) c.4621A>C (p.Lys1541Gln) c.4174A>C (p.Lys1392Gln) c.3511A>C (p.Lys1171Gln) c.8026A>C (p.Lys2676Gln) | |
5 | g.13770930T= | CA1528431239 | DNAH5 | c.9424A= (p.Lys3142=) c.9379A= (p.Lys3127=) n.136A= c.9532A= (p.Lys3178=) c.8437A= (p.Lys2813=) c.4621A= (p.Lys1541=) c.4174A= (p.Lys1392=) c.3511A= (p.Lys1171=) c.8026A= (p.Lys2676=) | |
5 | g.13770931G>A | CA443535427 | DNAH5 | c.9423C>T (p.Ile3141=) c.9378C>T (p.Ile3126=) n.135C>T c.9531C>T (p.Ile3177=) c.8436C>T (p.Ile2812=) c.4620C>T (p.Ile1540=) c.4173C>T (p.Ile1391=) c.3510C>T (p.Ile1170=) c.8025C>T (p.Ile2675=) | |
5 | g.13770931G>C | CA359205162 | DNAH5 | c.9423C>G (p.Ile3141Met) c.9378C>G (p.Ile3126Met) n.135C>G c.9531C>G (p.Ile3177Met) c.8436C>G (p.Ile2812Met) c.4620C>G (p.Ile1540Met) c.4173C>G (p.Ile1391Met) c.3510C>G (p.Ile1170Met) c.8025C>G (p.Ile2675Met) | |
5 | g.13770931G>T | CA443535426 | DNAH5 | c.9423C>A (p.Ile3141=) c.9378C>A (p.Ile3126=) n.135C>A c.9531C>A (p.Ile3177=) c.8436C>A (p.Ile2812=) c.4620C>A (p.Ile1540=) c.4173C>A (p.Ile1391=) c.3510C>A (p.Ile1170=) c.8025C>A (p.Ile2675=) | ClinVar dbSNP |
5 | g.13770932A>C | CA359205164 | DNAH5 | c.9422T>G (p.Ile3141Ser) c.9377T>G (p.Ile3126Ser) n.134T>G c.9530T>G (p.Ile3177Ser) c.8435T>G (p.Ile2812Ser) c.4619T>G (p.Ile1540Ser) c.4172T>G (p.Ile1391Ser) c.3509T>G (p.Ile1170Ser) c.8024T>G (p.Ile2675Ser) | |
5 | g.13770932A>G | CA359205168 | DNAH5 | c.9422T>C (p.Ile3141Thr) c.9377T>C (p.Ile3126Thr) n.134T>C c.9530T>C (p.Ile3177Thr) c.8435T>C (p.Ile2812Thr) c.4619T>C (p.Ile1540Thr) c.4172T>C (p.Ile1391Thr) c.3509T>C (p.Ile1170Thr) c.8024T>C (p.Ile2675Thr) | |
5 | g.13770932A>T | CA359205171 | DNAH5 | c.9422T>A (p.Ile3141Asn) c.9377T>A (p.Ile3126Asn) n.134T>A c.9530T>A (p.Ile3177Asn) c.8435T>A (p.Ile2812Asn) c.4619T>A (p.Ile1540Asn) c.4172T>A (p.Ile1391Asn) c.3509T>A (p.Ile1170Asn) c.8024T>A (p.Ile2675Asn) | |
5 | g.13770933T>A | CA359205174 | DNAH5 | c.9421A>T (p.Ile3141Phe) c.9376A>T (p.Ile3126Phe) n.133A>T c.9529A>T (p.Ile3177Phe) c.8434A>T (p.Ile2812Phe) c.4618A>T (p.Ile1540Phe) c.4171A>T (p.Ile1391Phe) c.3508A>T (p.Ile1170Phe) c.8023A>T (p.Ile2675Phe) | |
5 | g.13770933T>C | CA3202546 | DNAH5 | c.9421A>G (p.Ile3141Val) c.9376A>G (p.Ile3126Val) n.133A>G c.9529A>G (p.Ile3177Val) c.8434A>G (p.Ile2812Val) c.4618A>G (p.Ile1540Val) c.4171A>G (p.Ile1391Val) c.3508A>G (p.Ile1170Val) c.8023A>G (p.Ile2675Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13770933T>G | CA359205182 | DNAH5 | c.9421A>C (p.Ile3141Leu) c.9376A>C (p.Ile3126Leu) n.133A>C c.9529A>C (p.Ile3177Leu) c.8434A>C (p.Ile2812Leu) c.4618A>C (p.Ile1540Leu) c.4171A>C (p.Ile1391Leu) c.3508A>C (p.Ile1170Leu) c.8023A>C (p.Ile2675Leu) | |
5 | g.13770933T= | CA1528431240 | DNAH5 | c.9421A= (p.Ile3141=) c.9376A= (p.Ile3126=) n.133A= c.9529A= (p.Ile3177=) c.8434A= (p.Ile2812=) c.4618A= (p.Ile1540=) c.4171A= (p.Ile1391=) c.3508A= (p.Ile1170=) c.8023A= (p.Ile2675=) | |
5 | g.13770934T>A | CA359205184 | DNAH5 | c.9420A>T (p.Glu3140Asp) c.9375A>T (p.Glu3125Asp) n.132A>T c.9528A>T (p.Glu3176Asp) c.8433A>T (p.Glu2811Asp) c.4617A>T (p.Glu1539Asp) c.4170A>T (p.Glu1390Asp) c.3507A>T (p.Glu1169Asp) c.8022A>T (p.Glu2674Asp) | |
5 | g.13770934T>C | CA443535428 | DNAH5 | c.9420A>G (p.Glu3140=) c.9375A>G (p.Glu3125=) n.132A>G c.9528A>G (p.Glu3176=) c.8433A>G (p.Glu2811=) c.4617A>G (p.Glu1539=) c.4170A>G (p.Glu1390=) c.3507A>G (p.Glu1169=) c.8022A>G (p.Glu2674=) | ClinVar gnomAD v4 |
5 | g.13770934T>G | CA359205187 | DNAH5 | c.9420A>C (p.Glu3140Asp) c.9375A>C (p.Glu3125Asp) n.132A>C c.9528A>C (p.Glu3176Asp) c.8433A>C (p.Glu2811Asp) c.4617A>C (p.Glu1539Asp) c.4170A>C (p.Glu1390Asp) c.3507A>C (p.Glu1169Asp) c.8022A>C (p.Glu2674Asp) | |
5 | g.13770935T>A | CA359205189 | DNAH5 | c.9419A>T (p.Glu3140Val) c.9374A>T (p.Glu3125Val) n.131A>T c.9527A>T (p.Glu3176Val) c.8432A>T (p.Glu2811Val) c.4616A>T (p.Glu1539Val) c.4169A>T (p.Glu1390Val) c.3506A>T (p.Glu1169Val) c.8021A>T (p.Glu2674Val) | |
5 | g.13770935T>C | CA359205191 | DNAH5 | c.9419A>G (p.Glu3140Gly) c.9374A>G (p.Glu3125Gly) n.131A>G c.9527A>G (p.Glu3176Gly) c.8432A>G (p.Glu2811Gly) c.4616A>G (p.Glu1539Gly) c.4169A>G (p.Glu1390Gly) c.3506A>G (p.Glu1169Gly) c.8021A>G (p.Glu2674Gly) | |
5 | g.13770935T>G | CA359205193 | DNAH5 | c.9419A>C (p.Glu3140Ala) c.9374A>C (p.Glu3125Ala) n.131A>C c.9527A>C (p.Glu3176Ala) c.8432A>C (p.Glu2811Ala) c.4616A>C (p.Glu1539Ala) c.4169A>C (p.Glu1390Ala) c.3506A>C (p.Glu1169Ala) c.8021A>C (p.Glu2674Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13770935T= | CA1528431241 | DNAH5 | c.9419A= (p.Glu3140=) c.9374A= (p.Glu3125=) n.131A= c.9527A= (p.Glu3176=) c.8432A= (p.Glu2811=) c.4616A= (p.Glu1539=) c.4169A= (p.Glu1390=) c.3506A= (p.Glu1169=) c.8021A= (p.Glu2674=) | |
5 | g.13770936C>A | CA359205195 | DNAH5 | c.9418G>T (p.Glu3140Ter) c.9373G>T (p.Glu3125Ter) n.130G>T c.9526G>T (p.Glu3176Ter) c.8431G>T (p.Glu2811Ter) c.4615G>T (p.Glu1539Ter) c.4168G>T (p.Glu1390Ter) c.3505G>T (p.Glu1169Ter) c.8020G>T (p.Glu2674Ter) | |
5 | g.13770936C= | CA1528431242 | DNAH5 | c.9418G= (p.Glu3140=) c.9373G= (p.Glu3125=) n.130G= c.9526G= (p.Glu3176=) c.8431G= (p.Glu2811=) c.4615G= (p.Glu1539=) c.4168G= (p.Glu1390=) c.3505G= (p.Glu1169=) c.8020G= (p.Glu2674=) | |
5 | g.13770936C>G | CA3202547 | DNAH5 | c.9418G>C (p.Glu3140Gln) c.9373G>C (p.Glu3125Gln) n.130G>C c.9526G>C (p.Glu3176Gln) c.8431G>C (p.Glu2811Gln) c.4615G>C (p.Glu1539Gln) c.4168G>C (p.Glu1390Gln) c.3505G>C (p.Glu1169Gln) c.8020G>C (p.Glu2674Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770936C>T | CA359205199 | DNAH5 | c.9418G>A (p.Glu3140Lys) c.9373G>A (p.Glu3125Lys) n.130G>A c.9526G>A (p.Glu3176Lys) c.8431G>A (p.Glu2811Lys) c.4615G>A (p.Glu1539Lys) c.4168G>A (p.Glu1390Lys) c.3505G>A (p.Glu1169Lys) c.8020G>A (p.Glu2674Lys) | gnomAD v4 COSMIC |
5 | g.13770937C>A | CA359205209 | DNAH5 | c.9417G>T (p.Leu3139Phe) c.9372G>T (p.Leu3124Phe) n.129G>T c.9525G>T (p.Leu3175Phe) c.8430G>T (p.Leu2810Phe) c.4614G>T (p.Leu1538Phe) c.4167G>T (p.Leu1389Phe) c.3504G>T (p.Leu1168Phe) c.8019G>T (p.Leu2673Phe) | |
5 | g.13770937C>G | CA359205212 | DNAH5 | c.9417G>C (p.Leu3139Phe) c.9372G>C (p.Leu3124Phe) n.129G>C c.9525G>C (p.Leu3175Phe) c.8430G>C (p.Leu2810Phe) c.4614G>C (p.Leu1538Phe) c.4167G>C (p.Leu1389Phe) c.3504G>C (p.Leu1168Phe) c.8019G>C (p.Leu2673Phe) | |
5 | g.13770937C>T | CA443535429 | DNAH5 | c.9417G>A (p.Leu3139=) c.9372G>A (p.Leu3124=) n.129G>A c.9525G>A (p.Leu3175=) c.8430G>A (p.Leu2810=) c.4614G>A (p.Leu1538=) c.4167G>A (p.Leu1389=) c.3504G>A (p.Leu1168=) c.8019G>A (p.Leu2673=) | |
5 | g.13770938A>C | CA359205216 | DNAH5 | c.9416T>G (p.Leu3139Trp) c.9371T>G (p.Leu3124Trp) n.128T>G c.9524T>G (p.Leu3175Trp) c.8429T>G (p.Leu2810Trp) c.4613T>G (p.Leu1538Trp) c.4166T>G (p.Leu1389Trp) c.3503T>G (p.Leu1168Trp) c.8018T>G (p.Leu2673Trp) | |
5 | g.13770938A>G | CA359205219 | DNAH5 | c.9416T>C (p.Leu3139Ser) c.9371T>C (p.Leu3124Ser) n.128T>C c.9524T>C (p.Leu3175Ser) c.8429T>C (p.Leu2810Ser) c.4613T>C (p.Leu1538Ser) c.4166T>C (p.Leu1389Ser) c.3503T>C (p.Leu1168Ser) c.8018T>C (p.Leu2673Ser) | |
5 | g.13770938A>T | CA359205221 | DNAH5 | c.9416T>A (p.Leu3139Ter) c.9371T>A (p.Leu3124Ter) n.128T>A c.9524T>A (p.Leu3175Ter) c.8429T>A (p.Leu2810Ter) c.4613T>A (p.Leu1538Ter) c.4166T>A (p.Leu1389Ter) c.3503T>A (p.Leu1168Ter) c.8018T>A (p.Leu2673Ter) | |
5 | g.13770939A>C | CA359205224 | DNAH5 | c.9415T>G (p.Leu3139Val) c.9370T>G (p.Leu3124Val) n.127T>G c.9523T>G (p.Leu3175Val) c.8428T>G (p.Leu2810Val) c.4612T>G (p.Leu1538Val) c.4165T>G (p.Leu1389Val) c.3502T>G (p.Leu1168Val) c.8017T>G (p.Leu2673Val) | |
5 | g.13770939A>G | CA443535430 | DNAH5 | c.9415T>C (p.Leu3139=) c.9370T>C (p.Leu3124=) n.127T>C c.9523T>C (p.Leu3175=) c.8428T>C (p.Leu2810=) c.4612T>C (p.Leu1538=) c.4165T>C (p.Leu1389=) c.3502T>C (p.Leu1168=) c.8017T>C (p.Leu2673=) | |
5 | g.13770939A>T | CA359205227 | DNAH5 | c.9415T>A (p.Leu3139Met) c.9370T>A (p.Leu3124Met) n.127T>A c.9523T>A (p.Leu3175Met) c.8428T>A (p.Leu2810Met) c.4612T>A (p.Leu1538Met) c.4165T>A (p.Leu1389Met) c.3502T>A (p.Leu1168Met) c.8017T>A (p.Leu2673Met) | |
5 | g.13770940A>C | CA359205230 | DNAH5 | c.9414T>G (p.Ser3138Arg) c.9369T>G (p.Ser3123Arg) n.126T>G c.9522T>G (p.Ser3174Arg) c.8427T>G (p.Ser2809Arg) c.4611T>G (p.Ser1537Arg) c.4164T>G (p.Ser1388Arg) c.3501T>G (p.Ser1167Arg) c.8016T>G (p.Ser2672Arg) | |
5 | g.13770940A>G | CA443535431 | DNAH5 | c.9414T>C (p.Ser3138=) c.9369T>C (p.Ser3123=) n.126T>C c.9522T>C (p.Ser3174=) c.8427T>C (p.Ser2809=) c.4611T>C (p.Ser1537=) c.4164T>C (p.Ser1388=) c.3501T>C (p.Ser1167=) c.8016T>C (p.Ser2672=) | |
5 | g.13770940A>T | CA359205232 | DNAH5 | c.9414T>A (p.Ser3138Arg) c.9369T>A (p.Ser3123Arg) n.126T>A c.9522T>A (p.Ser3174Arg) c.8427T>A (p.Ser2809Arg) c.4611T>A (p.Ser1537Arg) c.4164T>A (p.Ser1388Arg) c.3501T>A (p.Ser1167Arg) c.8016T>A (p.Ser2672Arg) | |
5 | g.13770941C>A | CA359205237 | DNAH5 | c.9413G>T (p.Ser3138Ile) c.9368G>T (p.Ser3123Ile) n.125G>T c.9521G>T (p.Ser3174Ile) c.8426G>T (p.Ser2809Ile) c.4610G>T (p.Ser1537Ile) c.4163G>T (p.Ser1388Ile) c.3500G>T (p.Ser1167Ile) c.8015G>T (p.Ser2672Ile) | |
5 | g.13770941C>G | CA359205239 | DNAH5 | c.9413G>C (p.Ser3138Thr) c.9368G>C (p.Ser3123Thr) n.125G>C c.9521G>C (p.Ser3174Thr) c.8426G>C (p.Ser2809Thr) c.4610G>C (p.Ser1537Thr) c.4163G>C (p.Ser1388Thr) c.3500G>C (p.Ser1167Thr) c.8015G>C (p.Ser2672Thr) | |
5 | g.13770941C>T | CA359205235 | DNAH5 | c.9413G>A (p.Ser3138Asn) c.9368G>A (p.Ser3123Asn) n.125G>A c.9521G>A (p.Ser3174Asn) c.8426G>A (p.Ser2809Asn) c.4610G>A (p.Ser1537Asn) c.4163G>A (p.Ser1388Asn) c.3500G>A (p.Ser1167Asn) c.8015G>A (p.Ser2672Asn) | COSMIC |
5 | g.13770942T>A | CA359205241 | DNAH5 | c.9412A>T (p.Ser3138Cys) c.9367A>T (p.Ser3123Cys) n.124A>T c.9520A>T (p.Ser3174Cys) c.8425A>T (p.Ser2809Cys) c.4609A>T (p.Ser1537Cys) c.4162A>T (p.Ser1388Cys) c.3499A>T (p.Ser1167Cys) c.8014A>T (p.Ser2672Cys) | |
5 | g.13770942T>C | CA359205243 | DNAH5 | c.9412A>G (p.Ser3138Gly) c.9367A>G (p.Ser3123Gly) n.124A>G c.9520A>G (p.Ser3174Gly) c.8425A>G (p.Ser2809Gly) c.4609A>G (p.Ser1537Gly) c.4162A>G (p.Ser1388Gly) c.3499A>G (p.Ser1167Gly) c.8014A>G (p.Ser2672Gly) | gnomAD v4 |
5 | g.13770942T>G | CA359205245 | DNAH5 | c.9412A>C (p.Ser3138Arg) c.9367A>C (p.Ser3123Arg) n.124A>C c.9520A>C (p.Ser3174Arg) c.8425A>C (p.Ser2809Arg) c.4609A>C (p.Ser1537Arg) c.4162A>C (p.Ser1388Arg) c.3499A>C (p.Ser1167Arg) c.8014A>C (p.Ser2672Arg) | |
5 | g.13770943G>A | CA443535432 | DNAH5 | c.9411C>T (p.Cys3137=) c.9366C>T (p.Cys3122=) n.123C>T c.9519C>T (p.Cys3173=) c.8424C>T (p.Cys2808=) c.4608C>T (p.Cys1536=) c.4161C>T (p.Cys1387=) c.3498C>T (p.Cys1166=) c.8013C>T (p.Cys2671=) | ClinVar gnomAD v4 |
5 | g.13770943G>C | CA359205248 | DNAH5 | c.9411C>G (p.Cys3137Trp) c.9366C>G (p.Cys3122Trp) n.123C>G c.9519C>G (p.Cys3173Trp) c.8424C>G (p.Cys2808Trp) c.4608C>G (p.Cys1536Trp) c.4161C>G (p.Cys1387Trp) c.3498C>G (p.Cys1166Trp) c.8013C>G (p.Cys2671Trp) | |
5 | g.13770943G>T | CA359205251 | DNAH5 | c.9411C>A (p.Cys3137Ter) c.9366C>A (p.Cys3122Ter) n.123C>A c.9519C>A (p.Cys3173Ter) c.8424C>A (p.Cys2808Ter) c.4608C>A (p.Cys1536Ter) c.4161C>A (p.Cys1387Ter) c.3498C>A (p.Cys1166Ter) c.8013C>A (p.Cys2671Ter) | |
5 | g.13770944C>A | CA3202549 | DNAH5 | c.9410G>T (p.Cys3137Phe) c.9365G>T (p.Cys3122Phe) n.122G>T c.9518G>T (p.Cys3173Phe) c.8423G>T (p.Cys2808Phe) c.4607G>T (p.Cys1536Phe) c.4160G>T (p.Cys1387Phe) c.3497G>T (p.Cys1166Phe) c.8012G>T (p.Cys2671Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770944C= | CA1528431243 | DNAH5 | c.9410G= (p.Cys3137=) c.9365G= (p.Cys3122=) n.122G= c.9518G= (p.Cys3173=) c.8423G= (p.Cys2808=) c.4607G= (p.Cys1536=) c.4160G= (p.Cys1387=) c.3497G= (p.Cys1166=) c.8012G= (p.Cys2671=) | |
5 | g.13770944C>G | CA359205256 | DNAH5 | c.9410G>C (p.Cys3137Ser) c.9365G>C (p.Cys3122Ser) n.122G>C c.9518G>C (p.Cys3173Ser) c.8423G>C (p.Cys2808Ser) c.4607G>C (p.Cys1536Ser) c.4160G>C (p.Cys1387Ser) c.3497G>C (p.Cys1166Ser) c.8012G>C (p.Cys2671Ser) | |
5 | g.13770944C>T | CA3202548 | DNAH5 | c.9410G>A (p.Cys3137Tyr) c.9365G>A (p.Cys3122Tyr) n.122G>A c.9518G>A (p.Cys3173Tyr) c.8423G>A (p.Cys2808Tyr) c.4607G>A (p.Cys1536Tyr) c.4160G>A (p.Cys1387Tyr) c.3497G>A (p.Cys1166Tyr) c.8012G>A (p.Cys2671Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770945A>C | CA359205261 | DNAH5 | c.9409T>G (p.Cys3137Gly) c.9364T>G (p.Cys3122Gly) n.121T>G c.9517T>G (p.Cys3173Gly) c.8422T>G (p.Cys2808Gly) c.4606T>G (p.Cys1536Gly) c.4159T>G (p.Cys1387Gly) c.3496T>G (p.Cys1166Gly) c.8011T>G (p.Cys2671Gly) | |
5 | g.13770945A>G | CA359205264 | DNAH5 | c.9409T>C (p.Cys3137Arg) c.9364T>C (p.Cys3122Arg) n.121T>C c.9517T>C (p.Cys3173Arg) c.8422T>C (p.Cys2808Arg) c.4606T>C (p.Cys1536Arg) c.4159T>C (p.Cys1387Arg) c.3496T>C (p.Cys1166Arg) c.8011T>C (p.Cys2671Arg) | gnomAD v4 |
5 | g.13770945A>T | CA359205265 | DNAH5 | c.9409T>A (p.Cys3137Ser) c.9364T>A (p.Cys3122Ser) n.121T>A c.9517T>A (p.Cys3173Ser) c.8422T>A (p.Cys2808Ser) c.4606T>A (p.Cys1536Ser) c.4159T>A (p.Cys1387Ser) c.3496T>A (p.Cys1166Ser) c.8011T>A (p.Cys2671Ser) | |
5 | g.13770946G>A | CA443535433 | DNAH5 | c.9408C>T (p.Asp3136=) c.9363C>T (p.Asp3121=) n.120C>T c.9516C>T (p.Asp3172=) c.8421C>T (p.Asp2807=) c.4605C>T (p.Asp1535=) c.4158C>T (p.Asp1386=) c.3495C>T (p.Asp1165=) c.8010C>T (p.Asp2670=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13770946G>C | CA359205267 | DNAH5 | c.9408C>G (p.Asp3136Glu) c.9363C>G (p.Asp3121Glu) n.120C>G c.9516C>G (p.Asp3172Glu) c.8421C>G (p.Asp2807Glu) c.4605C>G (p.Asp1535Glu) c.4158C>G (p.Asp1386Glu) c.3495C>G (p.Asp1165Glu) c.8010C>G (p.Asp2670Glu) | |
5 | g.13770946G= | CA1528431244 | DNAH5 | c.9408C= (p.Asp3136=) c.9363C= (p.Asp3121=) n.120C= c.9516C= (p.Asp3172=) c.8421C= (p.Asp2807=) c.4605C= (p.Asp1535=) c.4158C= (p.Asp1386=) c.3495C= (p.Asp1165=) c.8010C= (p.Asp2670=) | |
5 | g.13770946G>T | CA359205270 | DNAH5 | c.9408C>A (p.Asp3136Glu) c.9363C>A (p.Asp3121Glu) n.120C>A c.9516C>A (p.Asp3172Glu) c.8421C>A (p.Asp2807Glu) c.4605C>A (p.Asp1535Glu) c.4158C>A (p.Asp1386Glu) c.3495C>A (p.Asp1165Glu) c.8010C>A (p.Asp2670Glu) | |
5 | g.13770947T>A | CA359205279 | DNAH5 | c.9407A>T (p.Asp3136Val) c.9362A>T (p.Asp3121Val) n.119A>T c.9515A>T (p.Asp3172Val) c.8420A>T (p.Asp2807Val) c.4604A>T (p.Asp1535Val) c.4157A>T (p.Asp1386Val) c.3494A>T (p.Asp1165Val) c.8009A>T (p.Asp2670Val) | |
5 | g.13770947T>C | CA359205276 | DNAH5 | c.9407A>G (p.Asp3136Gly) c.9362A>G (p.Asp3121Gly) n.119A>G c.9515A>G (p.Asp3172Gly) c.8420A>G (p.Asp2807Gly) c.4604A>G (p.Asp1535Gly) c.4157A>G (p.Asp1386Gly) c.3494A>G (p.Asp1165Gly) c.8009A>G (p.Asp2670Gly) | gnomAD v4 |
5 | g.13770947T>G | CA3202550 | DNAH5 | c.9407A>C (p.Asp3136Ala) c.9362A>C (p.Asp3121Ala) n.119A>C c.9515A>C (p.Asp3172Ala) c.8420A>C (p.Asp2807Ala) c.4604A>C (p.Asp1535Ala) c.4157A>C (p.Asp1386Ala) c.3494A>C (p.Asp1165Ala) c.8009A>C (p.Asp2670Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770947T= | CA1528431245 | DNAH5 | c.9407A= (p.Asp3136=) c.9362A= (p.Asp3121=) n.119A= c.9515A= (p.Asp3172=) c.8420A= (p.Asp2807=) c.4604A= (p.Asp1535=) c.4157A= (p.Asp1386=) c.3494A= (p.Asp1165=) c.8009A= (p.Asp2670=) | |
5 | g.13770948C>A | CA359205283 | DNAH5 | c.9406G>T (p.Asp3136Tyr) c.9361G>T (p.Asp3121Tyr) n.118G>T c.9514G>T (p.Asp3172Tyr) c.8419G>T (p.Asp2807Tyr) c.4603G>T (p.Asp1535Tyr) c.4156G>T (p.Asp1386Tyr) c.3493G>T (p.Asp1165Tyr) c.8008G>T (p.Asp2670Tyr) | |
5 | g.13770948C>G | CA359205284 | DNAH5 | c.9406G>C (p.Asp3136His) c.9361G>C (p.Asp3121His) n.118G>C c.9514G>C (p.Asp3172His) c.8419G>C (p.Asp2807His) c.4603G>C (p.Asp1535His) c.4156G>C (p.Asp1386His) c.3493G>C (p.Asp1165His) c.8008G>C (p.Asp2670His) | |
5 | g.13770948C>T | CA359205286 | DNAH5 | c.9406G>A (p.Asp3136Asn) c.9361G>A (p.Asp3121Asn) n.118G>A c.9514G>A (p.Asp3172Asn) c.8419G>A (p.Asp2807Asn) c.4603G>A (p.Asp1535Asn) c.4156G>A (p.Asp1386Asn) c.3493G>A (p.Asp1165Asn) c.8008G>A (p.Asp2670Asn) | |
5 | g.13770949A>C | CA359205287 | DNAH5 | c.9405T>G (p.Ile3135Met) c.9360T>G (p.Ile3120Met) n.117T>G c.9513T>G (p.Ile3171Met) c.8418T>G (p.Ile2806Met) c.4602T>G (p.Ile1534Met) c.4155T>G (p.Ile1385Met) c.3492T>G (p.Ile1164Met) c.8007T>G (p.Ile2669Met) | |
5 | g.13770949A>G | CA443535436 | DNAH5 | c.9405T>C (p.Ile3135=) c.9360T>C (p.Ile3120=) n.117T>C c.9513T>C (p.Ile3171=) c.8418T>C (p.Ile2806=) c.4602T>C (p.Ile1534=) c.4155T>C (p.Ile1385=) c.3492T>C (p.Ile1164=) c.8007T>C (p.Ile2669=) | |
5 | g.13770949A>T | CA443535437 | DNAH5 | c.9405T>A (p.Ile3135=) c.9360T>A (p.Ile3120=) n.117T>A c.9513T>A (p.Ile3171=) c.8418T>A (p.Ile2806=) c.4602T>A (p.Ile1534=) c.4155T>A (p.Ile1385=) c.3492T>A (p.Ile1164=) c.8007T>A (p.Ile2669=) | |
5 | g.13770950del | CA2673268303 | DNAH5 | c.9405del (p.Ile3135MetfsTer?) c.9360del (p.Ile3120MetfsTer?) n.117del c.9513del (p.Ile3171MetfsTer?) c.8418del (p.Ile2806MetfsTer?) c.4602del (p.Ile1534MetfsTer?) c.4155del (p.Ile1385MetfsTer?) c.3492del (p.Ile1164MetfsTer?) c.8007del (p.Ile2669MetfsTer?) | gnomAD v4 |
5 | g.13770949_13770953delinsAATAT | CA1528431246 | DNAH5 | c.9401_9405delinsATATT (p.Asp3134=) c.9356_9360delinsATATT (p.Asp3119=) n.113_117delinsATATT c.9509_9513delinsATATT (p.Asp3170=) c.8414_8418delinsATATT (p.Asp2805=) c.4598_4602delinsATATT (p.Asp1533=) c.4151_4155delinsATATT (p.Asp1384=) c.3488_3492delinsATATT (p.Asp1163=) c.8003_8007delinsATATT (p.Asp2668=) | |
5 | g.13770950A= | CA1528431248 | DNAH5 | c.9404T= (p.Ile3135=) c.9359T= (p.Ile3120=) n.116T= c.9512T= (p.Ile3171=) c.8417T= (p.Ile2806=) c.4601T= (p.Ile1534=) c.4154T= (p.Ile1385=) c.3491T= (p.Ile1164=) c.8006T= (p.Ile2669=) | |
5 | g.13770950A>C | CA359205289 | DNAH5 | c.9404T>G (p.Ile3135Ser) c.9359T>G (p.Ile3120Ser) n.116T>G c.9512T>G (p.Ile3171Ser) c.8417T>G (p.Ile2806Ser) c.4601T>G (p.Ile1534Ser) c.4154T>G (p.Ile1385Ser) c.3491T>G (p.Ile1164Ser) c.8006T>G (p.Ile2669Ser) | |
5 | g.13770950A>G | CA3202551 | DNAH5 | c.9404T>C (p.Ile3135Thr) c.9359T>C (p.Ile3120Thr) n.116T>C c.9512T>C (p.Ile3171Thr) c.8417T>C (p.Ile2806Thr) c.4601T>C (p.Ile1534Thr) c.4154T>C (p.Ile1385Thr) c.3491T>C (p.Ile1164Thr) c.8006T>C (p.Ile2669Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13770950A>T | CA359205292 | DNAH5 | c.9404T>A (p.Ile3135Asn) c.9359T>A (p.Ile3120Asn) n.116T>A c.9512T>A (p.Ile3171Asn) c.8417T>A (p.Ile2806Asn) c.4601T>A (p.Ile1534Asn) c.4154T>A (p.Ile1385Asn) c.3491T>A (p.Ile1164Asn) c.8006T>A (p.Ile2669Asn) | |
5 | g.13770950_13770953del | CA1528431247 | DNAH5 | c.9401_9404del (p.Asp3134ValfsTer?) c.9356_9359del (p.Asp3119ValfsTer?) n.113_116del c.9509_9512del (p.Asp3170ValfsTer?) c.8414_8417del (p.Asp2805ValfsTer?) c.4598_4601del (p.Asp1533ValfsTer?) c.4151_4154del (p.Asp1384ValfsTer?) c.3488_3491del (p.Asp1163ValfsTer?) c.8003_8006del (p.Asp2668ValfsTer?) | dbSNP |
5 | g.13770951T>A | CA359205294 | DNAH5 | c.9403A>T (p.Ile3135Phe) c.9358A>T (p.Ile3120Phe) n.115A>T c.9511A>T (p.Ile3171Phe) c.8416A>T (p.Ile2806Phe) c.4600A>T (p.Ile1534Phe) c.4153A>T (p.Ile1385Phe) c.3490A>T (p.Ile1164Phe) c.8005A>T (p.Ile2669Phe) | |
5 | g.13770951T>C | CA359205295 | DNAH5 | c.9403A>G (p.Ile3135Val) c.9358A>G (p.Ile3120Val) n.115A>G c.9511A>G (p.Ile3171Val) c.8416A>G (p.Ile2806Val) c.4600A>G (p.Ile1534Val) c.4153A>G (p.Ile1385Val) c.3490A>G (p.Ile1164Val) c.8005A>G (p.Ile2669Val) | dbSNP |
5 | g.13770951T>G | CA359205297 | DNAH5 | c.9403A>C (p.Ile3135Leu) c.9358A>C (p.Ile3120Leu) n.115A>C c.9511A>C (p.Ile3171Leu) c.8416A>C (p.Ile2806Leu) c.4600A>C (p.Ile1534Leu) c.4153A>C (p.Ile1385Leu) c.3490A>C (p.Ile1164Leu) c.8005A>C (p.Ile2669Leu) | |
5 | g.13770951T= | CA1528431249 | DNAH5 | c.9403A= (p.Ile3135=) c.9358A= (p.Ile3120=) n.115A= c.9511A= (p.Ile3171=) c.8416A= (p.Ile2806=) c.4600A= (p.Ile1534=) c.4153A= (p.Ile1385=) c.3490A= (p.Ile1164=) c.8005A= (p.Ile2669=) |