| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |