UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13691942C= | CA1528395815 | DNAH5 | n.1250G= c.*42G= (n.*42G=) | |
| 5 | g.13691942C>G | CA804349603 | DNAH5 | n.1250G>C c.*42G>C (n.*42G>C) | dbSNP gnomAD v4 |
| 5 | g.13691942C>T | CA3201223 | DNAH5 | n.1250G>A c.*42G>A (n.*42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13691944T>C | CA804349606 | DNAH5 | n.1248A>G c.*40A>G (n.*40A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13691944T= | CA1528395816 | DNAH5 | n.1248A= c.*40A= (n.*40A=) | |
| 5 | g.13691945G= | CA1528395817 | DNAH5 | n.1247C= c.*39C= (n.*39C=) | |
| 5 | g.13691945G>T | CA113905417 | DNAH5 | n.1247C>A c.*39C>A (n.*39C>A) | dbSNP |
| 5 | g.13691946C>A | CA3201224 | DNAH5 | n.1246G>T c.*38G>T (n.*38G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13691946C= | CA1528395818 | DNAH5 | n.1246G= c.*38G= (n.*38G=) | |
| 5 | g.13691946C>T | CA2578269518 | DNAH5 | n.1246G>A c.*38G>A (n.*38G>A) | gnomAD v4 |
| 5 | g.13691947del | CA2578269519 | DNAH5 | n.1245del c.*37del (n.*37del) | |
| 5 | g.13691951del | CA2765346681 | DNAH5 | n.1244del c.*36del (n.*36del) | |
| 5 | g.13691951T>G | CA2673266083 | DNAH5 | n.1241A>C c.*33A>C (n.*33A>C) | gnomAD v4 |
| 5 | g.13691952C= | CA1528395819 | DNAH5 | n.1240G= c.*32G= (n.*32G=) | |
| 5 | g.13691952C>T | CA113905422 | DNAH5 | n.1240G>A c.*32G>A (n.*32G>A) | dbSNP gnomAD v4 |
| 5 | g.13691953C>A | CA2673266084 | DNAH5 | n.1239G>T c.*31G>T (n.*31G>T) | gnomAD v4 |
| 5 | g.13691955A= | CA1528395820 | DNAH5 | n.1237T= c.*29T= (n.*29T=) | |
| 5 | g.13691955A>G | CA1073389322 | DNAH5 | n.1237T>C c.*29T>C (n.*29T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13691957del | CA2673266085 | DNAH5 | n.1235del c.*27del (n.*27del) | gnomAD v4 |
| 5 | g.13691957G>A | CA2673266086 | DNAH5 | n.1235C>T c.*27C>T (n.*27C>T) | gnomAD v4 |
| 5 | g.13691960T>C | CA804349616 | DNAH5 | n.1232A>G c.*24A>G (n.*24A>G) | dbSNP |
| 5 | g.13691960T= | CA1528395821 | DNAH5 | n.1232A= c.*24A= (n.*24A=) | |
| 5 | g.13691961T>C | CA2765346682 | DNAH5 | n.1231A>G c.*23A>G (n.*23A>G) | |
| 5 | g.13691962G>C | CA2673266087 | DNAH5 | n.1230C>G c.*22C>G (n.*22C>G) | gnomAD v4 |
| 5 | g.13691963G>C | CA2673266088 | DNAH5 | n.1229C>G c.*21C>G (n.*21C>G) | gnomAD v4 |
| 5 | g.13691964G>A | CA2673266089 | DNAH5 | n.1228C>T c.*20C>T (n.*20C>T) | gnomAD v4 |
| 5 | g.13691964G= | CA1528395822 | DNAH5 | n.1228C= c.*20C= (n.*20C=) | |
| 5 | g.13691964G>T | CA3201225 | DNAH5 | n.1228C>A c.*20C>A (n.*20C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13691965T>A | CA2673266090 | DNAH5 | n.1227A>T c.*19A>T (n.*19A>T) | gnomAD v4 |
| 5 | g.13691966G>A | CA2578269520 | DNAH5 | n.1226C>T c.*18C>T (n.*18C>T) | |
| 5 | g.13691966G>T | CA2578269521 | DNAH5 | n.1226C>A c.*18C>A (n.*18C>A) | |
| 5 | g.13691967G>C | CA2673266091 | DNAH5 | n.1225C>G c.*17C>G (n.*17C>G) | gnomAD v4 |
| 5 | g.13691968G>T | CA2524794678 | DNAH5 | n.1224C>A c.*16C>A (n.*16C>A) | |
| 5 | g.13691969G>A | CA2673266092 | DNAH5 | n.1223C>T c.*15C>T (n.*15C>T) | gnomAD v4 |
| 5 | g.13691969G>C | CA2515218645 | DNAH5 | n.1223C>G c.*15C>G (n.*15C>G) | |
| 5 | g.13691970A= | CA1528395823 | DNAH5 | n.1222T= c.*14T= (n.*14T=) | |
| 5 | g.13691970A>G | CA3201226 | DNAH5 | n.1222T>C c.*14T>C (n.*14T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.13691970A>T | CA113905427 | DNAH5 | n.1222T>A c.*14T>A (n.*14T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13691973C>A | CA3201227 | DNAH5 | n.1219G>T c.*11G>T (n.*11G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13691973C= | CA1528395824 | DNAH5 | n.1219G= c.*11G= (n.*11G=) | |
| 5 | g.13691973C>T | CA2673266093 | DNAH5 | n.1219G>A c.*11G>A (n.*11G>A) | gnomAD v4 |
| 5 | g.13691976C>A | CA2707966458 | DNAH5 | n.1216G>T c.*8G>T (n.*8G>T) | dbSNP |
| 5 | g.13691976C= | CA1528395825 | DNAH5 | n.1216G= c.*8G= (n.*8G=) | |
| 5 | g.13691976C>T | CA1528395826 | DNAH5 | n.1216G>A c.*8G>A (n.*8G>A) | dbSNP gnomAD v4 |
| 5 | g.13691977C>A | CA2673266094 | DNAH5 | n.1215G>T c.*7G>T (n.*7G>T) | gnomAD v4 |
| 5 | g.13691977C>T | CA2673266095 | DNAH5 | n.1215G>A c.*7G>A (n.*7G>A) | gnomAD v4 |
| 5 | g.13691978C= | CA1528395827 | DNAH5 | n.1214G= c.*6G= (n.*6G=) | |
| 5 | g.13691978C>T | CA804349626 | DNAH5 | n.1214G>A c.*6G>A (n.*6G>A) | dbSNP gnomAD v4 |
| 5 | g.13691980C>G | CA2673266096 | DNAH5 | n.1212G>C c.*4G>C (n.*4G>C) | gnomAD v4 |
| 5 | g.13691980_13691982delinsCAT | CA1528395828 | DNAH5 | n.1210_1212delinsATG c.*2_*4delinsATG (n.*2_*4delinsATG) | |
| 5 | g.13691981A= | CA1528395830 | DNAH5 | n.1211T= c.*3T= (n.*3T=) | |
| 5 | g.13691981A>G | CA557862278 | DNAH5 | n.1211T>C c.*3T>C (n.*3T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13691981A>T | CA2673266097 | DNAH5 | n.1211T>A c.*3T>A (n.*3T>A) | gnomAD v4 |
| 5 | g.13691981_13691982del | CA1528395829 | DNAH5 | n.1210_1211del c.*2_*3del (n.*2_*3del) | dbSNP gnomAD v4 |
| 5 | g.13691981_13691982delinsAT | CA1528395831 | DNAH5 | n.1210_1211delinsAT c.*2_*3delinsAT (n.*2_*3delinsAT) | |
| 5 | g.13691982del | CA557862279 | DNAH5 | n.1210del c.*2del (n.*2del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13691982T>A | CA2673266098 | DNAH5 | n.1210A>T c.*2A>T (n.*2A>T) | gnomAD v4 |
| 5 | g.13691982T>C | CA804349638 | DNAH5 | n.1210A>G c.*2A>G (n.*2A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13691982T= | CA1528395832 | DNAH5 | n.1210A= c.*2A= (n.*2A=) | |
| 5 | g.13691983G>A | CA2673266099 | DNAH5 | n.1209C>T c.*1C>T (n.*1C>T) | gnomAD v4 |
| 5 | g.13691984T>A | CA359188477 | DNAH5 | n.1208A>T c.13875A>T (p.Ter4625Tyr) c.13830A>T (p.Ter4610Tyr) c.13983A>T (p.Ter4661Tyr) c.13563A>T (p.Ter4521Tyr) c.12888A>T (p.Ter4296Tyr) c.9072A>T (p.Ter3024Tyr) c.8625A>T (p.Ter2875Tyr) c.7962A>T (p.Ter2654Tyr) c.12477A>T (p.Ter4159Tyr) | |
| 5 | g.13691984T>C | CA443248578 | DNAH5 | n.1208A>G c.13875A>G (p.Ter4625=) c.13830A>G (p.Ter4610=) c.13983A>G (p.Ter4661=) c.13563A>G (p.Ter4521=) c.12888A>G (p.Ter4296=) c.9072A>G (p.Ter3024=) c.8625A>G (p.Ter2875=) c.7962A>G (p.Ter2654=) c.12477A>G (p.Ter4159=) | |
| 5 | g.13691984T>G | CA113905432 | DNAH5 | n.1208A>C c.13875A>C (p.Ter4625Tyr) c.13830A>C (p.Ter4610Tyr) c.13983A>C (p.Ter4661Tyr) c.13563A>C (p.Ter4521Tyr) c.12888A>C (p.Ter4296Tyr) c.9072A>C (p.Ter3024Tyr) c.8625A>C (p.Ter2875Tyr) c.7962A>C (p.Ter2654Tyr) c.12477A>C (p.Ter4159Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13691984T= | CA1528395833 | DNAH5 | n.1208A= c.13875A= (p.Ter4625=) c.13830A= (p.Ter4610=) c.13983A= (p.Ter4661=) c.13563A= (p.Ter4521=) c.12888A= (p.Ter4296=) c.9072A= (p.Ter3024=) c.8625A= (p.Ter2875=) c.7962A= (p.Ter2654=) c.12477A= (p.Ter4159=) | |
| 5 | g.13691985T>A | CA359188478 | DNAH5 | n.1207A>T c.13874A>T (p.Ter4625Leu) c.13829A>T (p.Ter4610Leu) c.13982A>T (p.Ter4661Leu) c.13562A>T (p.Ter4521Leu) c.12887A>T (p.Ter4296Leu) c.9071A>T (p.Ter3024Leu) c.8624A>T (p.Ter2875Leu) c.7961A>T (p.Ter2654Leu) c.12476A>T (p.Ter4159Leu) | |
| 5 | g.13691985T>C | CA443248582 | DNAH5 | n.1207A>G c.13874A>G (p.Ter4625=) c.13829A>G (p.Ter4610=) c.13982A>G (p.Ter4661=) c.13562A>G (p.Ter4521=) c.12887A>G (p.Ter4296=) c.9071A>G (p.Ter3024=) c.8624A>G (p.Ter2875=) c.7961A>G (p.Ter2654=) c.12476A>G (p.Ter4159=) | |
| 5 | g.13691985T>G | CA359188479 | DNAH5 | n.1207A>C c.13874A>C (p.Ter4625Ser) c.13829A>C (p.Ter4610Ser) c.13982A>C (p.Ter4661Ser) c.13562A>C (p.Ter4521Ser) c.12887A>C (p.Ter4296Ser) c.9071A>C (p.Ter3024Ser) c.8624A>C (p.Ter2875Ser) c.7961A>C (p.Ter2654Ser) c.12476A>C (p.Ter4159Ser) | |
| 5 | g.13691986A= | CA1528395834 | DNAH5 | n.1206T= c.13873T= (p.Ter4625=) c.13828T= (p.Ter4610=) c.13981T= (p.Ter4661=) c.13561T= (p.Ter4521=) c.12886T= (p.Ter4296=) c.9070T= (p.Ter3024=) c.8623T= (p.Ter2875=) c.7960T= (p.Ter2654=) c.12475T= (p.Ter4159=) | |
| 5 | g.13691986A>C | CA113905435 | DNAH5 | n.1206T>G c.13873T>G (p.Ter4625Glu) c.13828T>G (p.Ter4610Glu) c.13981T>G (p.Ter4661Glu) c.13561T>G (p.Ter4521Glu) c.12886T>G (p.Ter4296Glu) c.9070T>G (p.Ter3024Glu) c.8623T>G (p.Ter2875Glu) c.7960T>G (p.Ter2654Glu) c.12475T>G (p.Ter4159Glu) | dbSNP gnomAD v4 COSMIC |
| 5 | g.13691986A>G | CA359188480 | DNAH5 | n.1206T>C c.13873T>C (p.Ter4625Gln) c.13828T>C (p.Ter4610Gln) c.13981T>C (p.Ter4661Gln) c.13561T>C (p.Ter4521Gln) c.12886T>C (p.Ter4296Gln) c.9070T>C (p.Ter3024Gln) c.8623T>C (p.Ter2875Gln) c.7960T>C (p.Ter2654Gln) c.12475T>C (p.Ter4159Gln) | gnomAD v4 |
| 5 | g.13691986A>T | CA359188481 | DNAH5 | n.1206T>A c.13873T>A (p.Ter4625Lys) c.13828T>A (p.Ter4610Lys) c.13981T>A (p.Ter4661Lys) c.13561T>A (p.Ter4521Lys) c.12886T>A (p.Ter4296Lys) c.9070T>A (p.Ter3024Lys) c.8623T>A (p.Ter2875Lys) c.7960T>A (p.Ter2654Lys) c.12475T>A (p.Ter4159Lys) | |
| 5 | g.13691987C>A | CA359188482 | DNAH5 | n.1205G>T c.13872G>T (p.Lys4624Asn) c.13827G>T (p.Lys4609Asn) c.13980G>T (p.Lys4660Asn) c.13560G>T (p.Lys4520Asn) c.12885G>T (p.Lys4295Asn) c.9069G>T (p.Lys3023Asn) c.8622G>T (p.Lys2874Asn) c.7959G>T (p.Lys2653Asn) c.12474G>T (p.Lys4158Asn) | |
| 5 | g.13691987C>G | CA359188483 | DNAH5 | n.1205G>C c.13872G>C (p.Lys4624Asn) c.13827G>C (p.Lys4609Asn) c.13980G>C (p.Lys4660Asn) c.13560G>C (p.Lys4520Asn) c.12885G>C (p.Lys4295Asn) c.9069G>C (p.Lys3023Asn) c.8622G>C (p.Lys2874Asn) c.7959G>C (p.Lys2653Asn) c.12474G>C (p.Lys4158Asn) | |
| 5 | g.13691987C>T | CA443248583 | DNAH5 | n.1205G>A c.13872G>A (p.Lys4624=) c.13827G>A (p.Lys4609=) c.13980G>A (p.Lys4660=) c.13560G>A (p.Lys4520=) c.12885G>A (p.Lys4295=) c.9069G>A (p.Lys3023=) c.8622G>A (p.Lys2874=) c.7959G>A (p.Lys2653=) c.12474G>A (p.Lys4158=) | |
| 5 | g.13691988T>A | CA359188484 | DNAH5 | n.1204A>T c.13871A>T (p.Lys4624Met) c.13826A>T (p.Lys4609Met) c.13979A>T (p.Lys4660Met) c.13559A>T (p.Lys4520Met) c.12884A>T (p.Lys4295Met) c.9068A>T (p.Lys3023Met) c.8621A>T (p.Lys2874Met) c.7958A>T (p.Lys2653Met) c.12473A>T (p.Lys4158Met) | |
| 5 | g.13691988T>C | CA3201228 | DNAH5 | n.1204A>G c.13871A>G (p.Lys4624Arg) c.13826A>G (p.Lys4609Arg) c.13979A>G (p.Lys4660Arg) c.13559A>G (p.Lys4520Arg) c.12884A>G (p.Lys4295Arg) c.9068A>G (p.Lys3023Arg) c.8621A>G (p.Lys2874Arg) c.7958A>G (p.Lys2653Arg) c.12473A>G (p.Lys4158Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13691988T>G | CA359188485 | DNAH5 | n.1204A>C c.13871A>C (p.Lys4624Thr) c.13826A>C (p.Lys4609Thr) c.13979A>C (p.Lys4660Thr) c.13559A>C (p.Lys4520Thr) c.12884A>C (p.Lys4295Thr) c.9068A>C (p.Lys3023Thr) c.8621A>C (p.Lys2874Thr) c.7958A>C (p.Lys2653Thr) c.12473A>C (p.Lys4158Thr) | |
| 5 | g.13691988T= | CA1528395835 | DNAH5 | n.1204A= c.13871A= (p.Lys4624=) c.13826A= (p.Lys4609=) c.13979A= (p.Lys4660=) c.13559A= (p.Lys4520=) c.12884A= (p.Lys4295=) c.9068A= (p.Lys3023=) c.8621A= (p.Lys2874=) c.7958A= (p.Lys2653=) c.12473A= (p.Lys4158=) | |
| 5 | g.13691989T>A | CA359188486 | DNAH5 | n.1203A>T c.13870A>T (p.Lys4624Ter) c.13825A>T (p.Lys4609Ter) c.13978A>T (p.Lys4660Ter) c.13558A>T (p.Lys4520Ter) c.12883A>T (p.Lys4295Ter) c.9067A>T (p.Lys3023Ter) c.8620A>T (p.Lys2874Ter) c.7957A>T (p.Lys2653Ter) c.12472A>T (p.Lys4158Ter) | |
| 5 | g.13691989T>C | CA359188487 | DNAH5 | n.1203A>G c.13870A>G (p.Lys4624Glu) c.13825A>G (p.Lys4609Glu) c.13978A>G (p.Lys4660Glu) c.13558A>G (p.Lys4520Glu) c.12883A>G (p.Lys4295Glu) c.9067A>G (p.Lys3023Glu) c.8620A>G (p.Lys2874Glu) c.7957A>G (p.Lys2653Glu) c.12472A>G (p.Lys4158Glu) | |
| 5 | g.13691989T>G | CA359188488 | DNAH5 | n.1203A>C c.13870A>C (p.Lys4624Gln) c.13825A>C (p.Lys4609Gln) c.13978A>C (p.Lys4660Gln) c.13558A>C (p.Lys4520Gln) c.12883A>C (p.Lys4295Gln) c.9067A>C (p.Lys3023Gln) c.8620A>C (p.Lys2874Gln) c.7957A>C (p.Lys2653Gln) c.12472A>C (p.Lys4158Gln) | |
| 5 | g.13691990G>A | CA443248587 | DNAH5 | n.1202C>T c.13869C>T (p.Val4623=) c.13824C>T (p.Val4608=) c.13977C>T (p.Val4659=) c.13557C>T (p.Val4519=) c.12882C>T (p.Val4294=) c.9066C>T (p.Val3022=) c.8619C>T (p.Val2873=) c.7956C>T (p.Val2652=) c.12471C>T (p.Val4157=) | gnomAD v4 |
| 5 | g.13691990G>C | CA443248588 | DNAH5 | n.1202C>G c.13869C>G (p.Val4623=) c.13824C>G (p.Val4608=) c.13977C>G (p.Val4659=) c.13557C>G (p.Val4519=) c.12882C>G (p.Val4294=) c.9066C>G (p.Val3022=) c.8619C>G (p.Val2873=) c.7956C>G (p.Val2652=) c.12471C>G (p.Val4157=) | ClinVar dbSNP |
| 5 | g.13691990G= | CA1528395836 | DNAH5 | n.1202C= c.13869C= (p.Val4623=) c.13824C= (p.Val4608=) c.13977C= (p.Val4659=) c.13557C= (p.Val4519=) c.12882C= (p.Val4294=) c.9066C= (p.Val3022=) c.8619C= (p.Val2873=) c.7956C= (p.Val2652=) c.12471C= (p.Val4157=) | |
| 5 | g.13691990G>T | CA443248590 | DNAH5 | n.1202C>A c.13869C>A (p.Val4623=) c.13824C>A (p.Val4608=) c.13977C>A (p.Val4659=) c.13557C>A (p.Val4519=) c.12882C>A (p.Val4294=) c.9066C>A (p.Val3022=) c.8619C>A (p.Val2873=) c.7956C>A (p.Val2652=) c.12471C>A (p.Val4157=) | gnomAD v4 |
| 5 | g.13691991A>C | CA359188489 | DNAH5 | n.1201T>G c.13868T>G (p.Val4623Gly) c.13823T>G (p.Val4608Gly) c.13976T>G (p.Val4659Gly) c.13556T>G (p.Val4519Gly) c.12881T>G (p.Val4294Gly) c.9065T>G (p.Val3022Gly) c.8618T>G (p.Val2873Gly) c.7955T>G (p.Val2652Gly) c.12470T>G (p.Val4157Gly) | |
| 5 | g.13691991A>G | CA359188491 | DNAH5 | n.1201T>C c.13868T>C (p.Val4623Ala) c.13823T>C (p.Val4608Ala) c.13976T>C (p.Val4659Ala) c.13556T>C (p.Val4519Ala) c.12881T>C (p.Val4294Ala) c.9065T>C (p.Val3022Ala) c.8618T>C (p.Val2873Ala) c.7955T>C (p.Val2652Ala) c.12470T>C (p.Val4157Ala) | |
| 5 | g.13691991A>T | CA359188490 | DNAH5 | n.1201T>A c.13868T>A (p.Val4623Asp) c.13823T>A (p.Val4608Asp) c.13976T>A (p.Val4659Asp) c.13556T>A (p.Val4519Asp) c.12881T>A (p.Val4294Asp) c.9065T>A (p.Val3022Asp) c.8618T>A (p.Val2873Asp) c.7955T>A (p.Val2652Asp) c.12470T>A (p.Val4157Asp) | |
| 5 | g.13691992C>A | CA359188492 | DNAH5 | n.1200G>T c.13867G>T (p.Val4623Phe) c.13822G>T (p.Val4608Phe) c.13975G>T (p.Val4659Phe) c.13555G>T (p.Val4519Phe) c.12880G>T (p.Val4294Phe) c.9064G>T (p.Val3022Phe) c.8617G>T (p.Val2873Phe) c.7954G>T (p.Val2652Phe) c.12469G>T (p.Val4157Phe) | |
| 5 | g.13691992C>G | CA359188494 | DNAH5 | n.1200G>C c.13867G>C (p.Val4623Leu) c.13822G>C (p.Val4608Leu) c.13975G>C (p.Val4659Leu) c.13555G>C (p.Val4519Leu) c.12880G>C (p.Val4294Leu) c.9064G>C (p.Val3022Leu) c.8617G>C (p.Val2873Leu) c.7954G>C (p.Val2652Leu) c.12469G>C (p.Val4157Leu) | |
| 5 | g.13691992C>T | CA359188493 | DNAH5 | n.1200G>A c.13867G>A (p.Val4623Ile) c.13822G>A (p.Val4608Ile) c.13975G>A (p.Val4659Ile) c.13555G>A (p.Val4519Ile) c.12880G>A (p.Val4294Ile) c.9064G>A (p.Val3022Ile) c.8617G>A (p.Val2873Ile) c.7954G>A (p.Val2652Ile) c.12469G>A (p.Val4157Ile) | |
| 5 | g.13691993A= | CA1528395837 | DNAH5 | n.1199T= c.13866T= (p.Asp4622=) c.13821T= (p.Asp4607=) c.13974T= (p.Asp4658=) c.13554T= (p.Asp4518=) c.12879T= (p.Asp4293=) c.9063T= (p.Asp3021=) c.8616T= (p.Asp2872=) c.7953T= (p.Asp2651=) c.12468T= (p.Asp4156=) | |
| 5 | g.13691993A>C | CA359188495 | DNAH5 | n.1199T>G c.13866T>G (p.Asp4622Glu) c.13821T>G (p.Asp4607Glu) c.13974T>G (p.Asp4658Glu) c.13554T>G (p.Asp4518Glu) c.12879T>G (p.Asp4293Glu) c.9063T>G (p.Asp3021Glu) c.8616T>G (p.Asp2872Glu) c.7953T>G (p.Asp2651Glu) c.12468T>G (p.Asp4156Glu) | |
| 5 | g.13691993A>G | CA443248593 | DNAH5 | n.1199T>C c.13866T>C (p.Asp4622=) c.13821T>C (p.Asp4607=) c.13974T>C (p.Asp4658=) c.13554T>C (p.Asp4518=) c.12879T>C (p.Asp4293=) c.9063T>C (p.Asp3021=) c.8616T>C (p.Asp2872=) c.7953T>C (p.Asp2651=) c.12468T>C (p.Asp4156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13691993A>T | CA359188496 | DNAH5 | n.1199T>A c.13866T>A (p.Asp4622Glu) c.13821T>A (p.Asp4607Glu) c.13974T>A (p.Asp4658Glu) c.13554T>A (p.Asp4518Glu) c.12879T>A (p.Asp4293Glu) c.9063T>A (p.Asp3021Glu) c.8616T>A (p.Asp2872Glu) c.7953T>A (p.Asp2651Glu) c.12468T>A (p.Asp4156Glu) | |
| 5 | g.13691994T>A | CA359188497 | DNAH5 | n.1198A>T c.13865A>T (p.Asp4622Val) c.13820A>T (p.Asp4607Val) c.13973A>T (p.Asp4658Val) c.13553A>T (p.Asp4518Val) c.12878A>T (p.Asp4293Val) c.9062A>T (p.Asp3021Val) c.8615A>T (p.Asp2872Val) c.7952A>T (p.Asp2651Val) c.12467A>T (p.Asp4156Val) | COSMIC |
| 5 | g.13691994T>C | CA359188498 | DNAH5 | n.1198A>G c.13865A>G (p.Asp4622Gly) c.13820A>G (p.Asp4607Gly) c.13973A>G (p.Asp4658Gly) c.13553A>G (p.Asp4518Gly) c.12878A>G (p.Asp4293Gly) c.9062A>G (p.Asp3021Gly) c.8615A>G (p.Asp2872Gly) c.7952A>G (p.Asp2651Gly) c.12467A>G (p.Asp4156Gly) | |
| 5 | g.13691994T>G | CA359188499 | DNAH5 | n.1198A>C c.13865A>C (p.Asp4622Ala) c.13820A>C (p.Asp4607Ala) c.13973A>C (p.Asp4658Ala) c.13553A>C (p.Asp4518Ala) c.12878A>C (p.Asp4293Ala) c.9062A>C (p.Asp3021Ala) c.8615A>C (p.Asp2872Ala) c.7952A>C (p.Asp2651Ala) c.12467A>C (p.Asp4156Ala) | |
| 5 | g.13691995C>A | CA359188500 | DNAH5 | n.1197G>T c.13864G>T (p.Asp4622Tyr) c.13819G>T (p.Asp4607Tyr) c.13972G>T (p.Asp4658Tyr) c.13552G>T (p.Asp4518Tyr) c.12877G>T (p.Asp4293Tyr) c.9061G>T (p.Asp3021Tyr) c.8614G>T (p.Asp2872Tyr) c.7951G>T (p.Asp2651Tyr) c.12466G>T (p.Asp4156Tyr) | |
| 5 | g.13691995C>G | CA359188501 | DNAH5 | n.1197G>C c.13864G>C (p.Asp4622His) c.13819G>C (p.Asp4607His) c.13972G>C (p.Asp4658His) c.13552G>C (p.Asp4518His) c.12877G>C (p.Asp4293His) c.9061G>C (p.Asp3021His) c.8614G>C (p.Asp2872His) c.7951G>C (p.Asp2651His) c.12466G>C (p.Asp4156His) | |
| 5 | g.13691995C>T | CA359188502 | DNAH5 | n.1197G>A c.13864G>A (p.Asp4622Asn) c.13819G>A (p.Asp4607Asn) c.13972G>A (p.Asp4658Asn) c.13552G>A (p.Asp4518Asn) c.12877G>A (p.Asp4293Asn) c.9061G>A (p.Asp3021Asn) c.8614G>A (p.Asp2872Asn) c.7951G>A (p.Asp2651Asn) c.12466G>A (p.Asp4156Asn) | COSMIC |
| 5 | g.13691996A= | CA1528395838 | DNAH5 | n.1196T= c.13863T= (p.Cys4621=) c.13818T= (p.Cys4606=) c.13971T= (p.Cys4657=) c.13551T= (p.Cys4517=) c.12876T= (p.Cys4292=) c.9060T= (p.Cys3020=) c.8613T= (p.Cys2871=) c.7950T= (p.Cys2650=) c.12465T= (p.Cys4155=) | |
| 5 | g.13691996A>C | CA359188503 | DNAH5 | n.1196T>G c.13863T>G (p.Cys4621Trp) c.13818T>G (p.Cys4606Trp) c.13971T>G (p.Cys4657Trp) c.13551T>G (p.Cys4517Trp) c.12876T>G (p.Cys4292Trp) c.9060T>G (p.Cys3020Trp) c.8613T>G (p.Cys2871Trp) c.7950T>G (p.Cys2650Trp) c.12465T>G (p.Cys4155Trp) | |
| 5 | g.13691996A>G | CA443248597 | DNAH5 | n.1196T>C c.13863T>C (p.Cys4621=) c.13818T>C (p.Cys4606=) c.13971T>C (p.Cys4657=) c.13551T>C (p.Cys4517=) c.12876T>C (p.Cys4292=) c.9060T>C (p.Cys3020=) c.8613T>C (p.Cys2871=) c.7950T>C (p.Cys2650=) c.12465T>C (p.Cys4155=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13691996A>T | CA359188504 | DNAH5 | n.1196T>A c.13863T>A (p.Cys4621Ter) c.13818T>A (p.Cys4606Ter) c.13971T>A (p.Cys4657Ter) c.13551T>A (p.Cys4517Ter) c.12876T>A (p.Cys4292Ter) c.9060T>A (p.Cys3020Ter) c.8613T>A (p.Cys2871Ter) c.7950T>A (p.Cys2650Ter) c.12465T>A (p.Cys4155Ter) | |
| 5 | g.13691997C>A | CA359188507 | DNAH5 | n.1195G>T c.13862G>T (p.Cys4621Phe) c.13817G>T (p.Cys4606Phe) c.13970G>T (p.Cys4657Phe) c.13550G>T (p.Cys4517Phe) c.12875G>T (p.Cys4292Phe) c.9059G>T (p.Cys3020Phe) c.8612G>T (p.Cys2871Phe) c.7949G>T (p.Cys2650Phe) c.12464G>T (p.Cys4155Phe) | |
| 5 | g.13691997C= | CA1528395839 | DNAH5 | n.1195G= c.13862G= (p.Cys4621=) c.13817G= (p.Cys4606=) c.13970G= (p.Cys4657=) c.13550G= (p.Cys4517=) c.12875G= (p.Cys4292=) c.9059G= (p.Cys3020=) c.8612G= (p.Cys2871=) c.7949G= (p.Cys2650=) c.12464G= (p.Cys4155=) | |
| 5 | g.13691997C>G | CA359188506 | DNAH5 | n.1195G>C c.13862G>C (p.Cys4621Ser) c.13817G>C (p.Cys4606Ser) c.13970G>C (p.Cys4657Ser) c.13550G>C (p.Cys4517Ser) c.12875G>C (p.Cys4292Ser) c.9059G>C (p.Cys3020Ser) c.8612G>C (p.Cys2871Ser) c.7949G>C (p.Cys2650Ser) c.12464G>C (p.Cys4155Ser) | ClinVar |
| 5 | g.13691997C>T | CA359188505 | DNAH5 | n.1195G>A c.13862G>A (p.Cys4621Tyr) c.13817G>A (p.Cys4606Tyr) c.13970G>A (p.Cys4657Tyr) c.13550G>A (p.Cys4517Tyr) c.12875G>A (p.Cys4292Tyr) c.9059G>A (p.Cys3020Tyr) c.8612G>A (p.Cys2871Tyr) c.7949G>A (p.Cys2650Tyr) c.12464G>A (p.Cys4155Tyr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.13691998A>C | CA359188508 | DNAH5 | n.1194T>G c.13861T>G (p.Cys4621Gly) c.13816T>G (p.Cys4606Gly) c.13969T>G (p.Cys4657Gly) c.13549T>G (p.Cys4517Gly) c.12874T>G (p.Cys4292Gly) c.9058T>G (p.Cys3020Gly) c.8611T>G (p.Cys2871Gly) c.7948T>G (p.Cys2650Gly) c.12463T>G (p.Cys4155Gly) | |
| 5 | g.13691998A>G | CA359188509 | DNAH5 | n.1194T>C c.13861T>C (p.Cys4621Arg) c.13816T>C (p.Cys4606Arg) c.13969T>C (p.Cys4657Arg) c.13549T>C (p.Cys4517Arg) c.12874T>C (p.Cys4292Arg) c.9058T>C (p.Cys3020Arg) c.8611T>C (p.Cys2871Arg) c.7948T>C (p.Cys2650Arg) c.12463T>C (p.Cys4155Arg) | |
| 5 | g.13691998A>T | CA359188510 | DNAH5 | n.1194T>A c.13861T>A (p.Cys4621Ser) c.13816T>A (p.Cys4606Ser) c.13969T>A (p.Cys4657Ser) c.13549T>A (p.Cys4517Ser) c.12874T>A (p.Cys4292Ser) c.9058T>A (p.Cys3020Ser) c.8611T>A (p.Cys2871Ser) c.7948T>A (p.Cys2650Ser) c.12463T>A (p.Cys4155Ser) | |
| 5 | g.13691999C>A | CA443248599 | DNAH5 | n.1193G>T c.13860G>T (p.Leu4620=) c.13815G>T (p.Leu4605=) c.13968G>T (p.Leu4656=) c.13548G>T (p.Leu4516=) c.12873G>T (p.Leu4291=) c.9057G>T (p.Leu3019=) c.8610G>T (p.Leu2870=) c.7947G>T (p.Leu2649=) c.12462G>T (p.Leu4154=) | |
| 5 | g.13691999C>G | CA443248600 | DNAH5 | n.1193G>C c.13860G>C (p.Leu4620=) c.13815G>C (p.Leu4605=) c.13968G>C (p.Leu4656=) c.13548G>C (p.Leu4516=) c.12873G>C (p.Leu4291=) c.9057G>C (p.Leu3019=) c.8610G>C (p.Leu2870=) c.7947G>C (p.Leu2649=) c.12462G>C (p.Leu4154=) | |
| 5 | g.13691999C>T | CA443248602 | DNAH5 | n.1193G>A c.13860G>A (p.Leu4620=) c.13815G>A (p.Leu4605=) c.13968G>A (p.Leu4656=) c.13548G>A (p.Leu4516=) c.12873G>A (p.Leu4291=) c.9057G>A (p.Leu3019=) c.8610G>A (p.Leu2870=) c.7947G>A (p.Leu2649=) c.12462G>A (p.Leu4154=) | |
| 5 | g.13692000A>C | CA359188511 | DNAH5 | n.1192T>G c.13859T>G (p.Leu4620Arg) c.13814T>G (p.Leu4605Arg) c.13967T>G (p.Leu4656Arg) c.13547T>G (p.Leu4516Arg) c.12872T>G (p.Leu4291Arg) c.9056T>G (p.Leu3019Arg) c.8609T>G (p.Leu2870Arg) c.7946T>G (p.Leu2649Arg) c.12461T>G (p.Leu4154Arg) | |
| 5 | g.13692000A>G | CA359188512 | DNAH5 | n.1192T>C c.13859T>C (p.Leu4620Pro) c.13814T>C (p.Leu4605Pro) c.13967T>C (p.Leu4656Pro) c.13547T>C (p.Leu4516Pro) c.12872T>C (p.Leu4291Pro) c.9056T>C (p.Leu3019Pro) c.8609T>C (p.Leu2870Pro) c.7946T>C (p.Leu2649Pro) c.12461T>C (p.Leu4154Pro) | |
| 5 | g.13692000A>T | CA359188513 | DNAH5 | n.1192T>A c.13859T>A (p.Leu4620Gln) c.13814T>A (p.Leu4605Gln) c.13967T>A (p.Leu4656Gln) c.13547T>A (p.Leu4516Gln) c.12872T>A (p.Leu4291Gln) c.9056T>A (p.Leu3019Gln) c.8609T>A (p.Leu2870Gln) c.7946T>A (p.Leu2649Gln) c.12461T>A (p.Leu4154Gln) | |
| 5 | g.13692001G>A | CA443248604 | DNAH5 | n.1191C>T c.13858C>T (p.Leu4620=) c.13813C>T (p.Leu4605=) c.13966C>T (p.Leu4656=) c.13546C>T (p.Leu4516=) c.12871C>T (p.Leu4291=) c.9055C>T (p.Leu3019=) c.8608C>T (p.Leu2870=) c.7945C>T (p.Leu2649=) c.12460C>T (p.Leu4154=) | |
| 5 | g.13692001G>C | CA359188514 | DNAH5 | n.1191C>G c.13858C>G (p.Leu4620Val) c.13813C>G (p.Leu4605Val) c.13966C>G (p.Leu4656Val) c.13546C>G (p.Leu4516Val) c.12871C>G (p.Leu4291Val) c.9055C>G (p.Leu3019Val) c.8608C>G (p.Leu2870Val) c.7945C>G (p.Leu2649Val) c.12460C>G (p.Leu4154Val) | |
| 5 | g.13692001G>T | CA359188515 | DNAH5 | n.1191C>A c.13858C>A (p.Leu4620Met) c.13813C>A (p.Leu4605Met) c.13966C>A (p.Leu4656Met) c.13546C>A (p.Leu4516Met) c.12871C>A (p.Leu4291Met) c.9055C>A (p.Leu3019Met) c.8608C>A (p.Leu2870Met) c.7945C>A (p.Leu2649Met) c.12460C>A (p.Leu4154Met) | |
| 5 | g.13692002A>C | CA443248605 | DNAH5 | n.1190T>G c.13857T>G (p.Leu4619=) c.13812T>G (p.Leu4604=) c.13965T>G (p.Leu4655=) c.13545T>G (p.Leu4515=) c.12870T>G (p.Leu4290=) c.9054T>G (p.Leu3018=) c.8607T>G (p.Leu2869=) c.7944T>G (p.Leu2648=) c.12459T>G (p.Leu4153=) | |
| 5 | g.13692002A>G | CA443248607 | DNAH5 | n.1190T>C c.13857T>C (p.Leu4619=) c.13812T>C (p.Leu4604=) c.13965T>C (p.Leu4655=) c.13545T>C (p.Leu4515=) c.12870T>C (p.Leu4290=) c.9054T>C (p.Leu3018=) c.8607T>C (p.Leu2869=) c.7944T>C (p.Leu2648=) c.12459T>C (p.Leu4153=) | |
| 5 | g.13692002A>T | CA443248608 | DNAH5 | n.1190T>A c.13857T>A (p.Leu4619=) c.13812T>A (p.Leu4604=) c.13965T>A (p.Leu4655=) c.13545T>A (p.Leu4515=) c.12870T>A (p.Leu4290=) c.9054T>A (p.Leu3018=) c.8607T>A (p.Leu2869=) c.7944T>A (p.Leu2648=) c.12459T>A (p.Leu4153=) | |
| 5 | g.13692003A>C | CA359188516 | DNAH5 | n.1189T>G c.13856T>G (p.Leu4619Arg) c.13811T>G (p.Leu4604Arg) c.13964T>G (p.Leu4655Arg) c.13544T>G (p.Leu4515Arg) c.12869T>G (p.Leu4290Arg) c.9053T>G (p.Leu3018Arg) c.8606T>G (p.Leu2869Arg) c.7943T>G (p.Leu2648Arg) c.12458T>G (p.Leu4153Arg) | |
| 5 | g.13692003A>G | CA359188517 | DNAH5 | n.1189T>C c.13856T>C (p.Leu4619Pro) c.13811T>C (p.Leu4604Pro) c.13964T>C (p.Leu4655Pro) c.13544T>C (p.Leu4515Pro) c.12869T>C (p.Leu4290Pro) c.9053T>C (p.Leu3018Pro) c.8606T>C (p.Leu2869Pro) c.7943T>C (p.Leu2648Pro) c.12458T>C (p.Leu4153Pro) | |
| 5 | g.13692003A>T | CA359188518 | DNAH5 | n.1189T>A c.13856T>A (p.Leu4619His) c.13811T>A (p.Leu4604His) c.13964T>A (p.Leu4655His) c.13544T>A (p.Leu4515His) c.12869T>A (p.Leu4290His) c.9053T>A (p.Leu3018His) c.8606T>A (p.Leu2869His) c.7943T>A (p.Leu2648His) c.12458T>A (p.Leu4153His) | |
| 5 | g.13692004G>A | CA359188520 | DNAH5 | n.1188C>T c.13855C>T (p.Leu4619Phe) c.13810C>T (p.Leu4604Phe) c.13963C>T (p.Leu4655Phe) c.13543C>T (p.Leu4515Phe) c.12868C>T (p.Leu4290Phe) c.9052C>T (p.Leu3018Phe) c.8605C>T (p.Leu2869Phe) c.7942C>T (p.Leu2648Phe) c.12457C>T (p.Leu4153Phe) | gnomAD v4 |
| 5 | g.13692004G>C | CA359188521 | DNAH5 | n.1188C>G c.13855C>G (p.Leu4619Val) c.13810C>G (p.Leu4604Val) c.13963C>G (p.Leu4655Val) c.13543C>G (p.Leu4515Val) c.12868C>G (p.Leu4290Val) c.9052C>G (p.Leu3018Val) c.8605C>G (p.Leu2869Val) c.7942C>G (p.Leu2648Val) c.12457C>G (p.Leu4153Val) | |
| 5 | g.13692004G>T | CA359188519 | DNAH5 | n.1188C>A c.13855C>A (p.Leu4619Ile) c.13810C>A (p.Leu4604Ile) c.13963C>A (p.Leu4655Ile) c.13543C>A (p.Leu4515Ile) c.12868C>A (p.Leu4290Ile) c.9052C>A (p.Leu3018Ile) c.8605C>A (p.Leu2869Ile) c.7942C>A (p.Leu2648Ile) c.12457C>A (p.Leu4153Ile) | gnomAD v4 COSMIC |
| 5 | g.13692005G>A | CA443248611 | DNAH5 | n.1187C>T c.13854C>T (p.Ala4618=) c.13809C>T (p.Ala4603=) c.13962C>T (p.Ala4654=) c.13542C>T (p.Ala4514=) c.12867C>T (p.Ala4289=) c.9051C>T (p.Ala3017=) c.8604C>T (p.Ala2868=) c.7941C>T (p.Ala2647=) c.12456C>T (p.Ala4152=) | |
| 5 | g.13692005G>C | CA443248612 | DNAH5 | n.1187C>G c.13854C>G (p.Ala4618=) c.13809C>G (p.Ala4603=) c.13962C>G (p.Ala4654=) c.13542C>G (p.Ala4514=) c.12867C>G (p.Ala4289=) c.9051C>G (p.Ala3017=) c.8604C>G (p.Ala2868=) c.7941C>G (p.Ala2647=) c.12456C>G (p.Ala4152=) | |
| 5 | g.13692005G>T | CA443248609 | DNAH5 | n.1187C>A c.13854C>A (p.Ala4618=) c.13809C>A (p.Ala4603=) c.13962C>A (p.Ala4654=) c.13542C>A (p.Ala4514=) c.12867C>A (p.Ala4289=) c.9051C>A (p.Ala3017=) c.8604C>A (p.Ala2868=) c.7941C>A (p.Ala2647=) c.12456C>A (p.Ala4152=) | |
| 5 | g.13692006G>A | CA113905440 | DNAH5 | n.1186C>T c.13853C>T (p.Ala4618Val) c.13808C>T (p.Ala4603Val) c.13961C>T (p.Ala4654Val) c.13541C>T (p.Ala4514Val) c.12866C>T (p.Ala4289Val) c.9050C>T (p.Ala3017Val) c.8603C>T (p.Ala2868Val) c.7940C>T (p.Ala2647Val) c.12455C>T (p.Ala4152Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13692006G>C | CA359188522 | DNAH5 | n.1186C>G c.13853C>G (p.Ala4618Gly) c.13808C>G (p.Ala4603Gly) c.13961C>G (p.Ala4654Gly) c.13541C>G (p.Ala4514Gly) c.12866C>G (p.Ala4289Gly) c.9050C>G (p.Ala3017Gly) c.8603C>G (p.Ala2868Gly) c.7940C>G (p.Ala2647Gly) c.12455C>G (p.Ala4152Gly) | |
| 5 | g.13692006G= | CA1528395840 | DNAH5 | n.1186C= c.13853C= (p.Ala4618=) c.13808C= (p.Ala4603=) c.13961C= (p.Ala4654=) c.13541C= (p.Ala4514=) c.12866C= (p.Ala4289=) c.9050C= (p.Ala3017=) c.8603C= (p.Ala2868=) c.7940C= (p.Ala2647=) c.12455C= (p.Ala4152=) | |
| 5 | g.13692006G>T | CA359188523 | DNAH5 | n.1186C>A c.13853C>A (p.Ala4618Asp) c.13808C>A (p.Ala4603Asp) c.13961C>A (p.Ala4654Asp) c.13541C>A (p.Ala4514Asp) c.12866C>A (p.Ala4289Asp) c.9050C>A (p.Ala3017Asp) c.8603C>A (p.Ala2868Asp) c.7940C>A (p.Ala2647Asp) c.12455C>A (p.Ala4152Asp) | |
| 5 | g.13692007C>A | CA359188524 | DNAH5 | n.1185G>T c.13852G>T (p.Ala4618Ser) c.13807G>T (p.Ala4603Ser) c.13960G>T (p.Ala4654Ser) c.13540G>T (p.Ala4514Ser) c.12865G>T (p.Ala4289Ser) c.9049G>T (p.Ala3017Ser) c.8602G>T (p.Ala2868Ser) c.7939G>T (p.Ala2647Ser) c.12454G>T (p.Ala4152Ser) | gnomAD v4 COSMIC |
| 5 | g.13692007C>G | CA359188525 | DNAH5 | n.1185G>C c.13852G>C (p.Ala4618Pro) c.13807G>C (p.Ala4603Pro) c.13960G>C (p.Ala4654Pro) c.13540G>C (p.Ala4514Pro) c.12865G>C (p.Ala4289Pro) c.9049G>C (p.Ala3017Pro) c.8602G>C (p.Ala2868Pro) c.7939G>C (p.Ala2647Pro) c.12454G>C (p.Ala4152Pro) | |
| 5 | g.13692007C>T | CA359188526 | DNAH5 | n.1185G>A c.13852G>A (p.Ala4618Thr) c.13807G>A (p.Ala4603Thr) c.13960G>A (p.Ala4654Thr) c.13540G>A (p.Ala4514Thr) c.12865G>A (p.Ala4289Thr) c.9049G>A (p.Ala3017Thr) c.8602G>A (p.Ala2868Thr) c.7939G>A (p.Ala2647Thr) c.12454G>A (p.Ala4152Thr) | |
| 5 | g.13692008A>C | CA443248616 | DNAH5 | n.1184T>G c.13851T>G (p.Val4617=) c.13806T>G (p.Val4602=) c.13959T>G (p.Val4653=) c.13539T>G (p.Val4513=) c.12864T>G (p.Val4288=) c.9048T>G (p.Val3016=) c.8601T>G (p.Val2867=) c.7938T>G (p.Val2646=) c.12453T>G (p.Val4151=) | |
| 5 | g.13692008A>G | CA443248613 | DNAH5 | n.1184T>C c.13851T>C (p.Val4617=) c.13806T>C (p.Val4602=) c.13959T>C (p.Val4653=) c.13539T>C (p.Val4513=) c.12864T>C (p.Val4288=) c.9048T>C (p.Val3016=) c.8601T>C (p.Val2867=) c.7938T>C (p.Val2646=) c.12453T>C (p.Val4151=) | |
| 5 | g.13692008A>T | CA443248614 | DNAH5 | n.1184T>A c.13851T>A (p.Val4617=) c.13806T>A (p.Val4602=) c.13959T>A (p.Val4653=) c.13539T>A (p.Val4513=) c.12864T>A (p.Val4288=) c.9048T>A (p.Val3016=) c.8601T>A (p.Val2867=) c.7938T>A (p.Val2646=) c.12453T>A (p.Val4151=) | |
| 5 | g.13692009A= | CA1528395841 | DNAH5 | n.1183T= c.13850T= (p.Val4617=) c.13805T= (p.Val4602=) c.13958T= (p.Val4653=) c.13538T= (p.Val4513=) c.12863T= (p.Val4288=) c.9047T= (p.Val3016=) c.8600T= (p.Val2867=) c.7937T= (p.Val2646=) c.12452T= (p.Val4151=) | |
| 5 | g.13692009A>C | CA359188527 | DNAH5 | n.1183T>G c.13850T>G (p.Val4617Gly) c.13805T>G (p.Val4602Gly) c.13958T>G (p.Val4653Gly) c.13538T>G (p.Val4513Gly) c.12863T>G (p.Val4288Gly) c.9047T>G (p.Val3016Gly) c.8600T>G (p.Val2867Gly) c.7937T>G (p.Val2646Gly) c.12452T>G (p.Val4151Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13692009A>G | CA359188528 | DNAH5 | n.1183T>C c.13850T>C (p.Val4617Ala) c.13805T>C (p.Val4602Ala) c.13958T>C (p.Val4653Ala) c.13538T>C (p.Val4513Ala) c.12863T>C (p.Val4288Ala) c.9047T>C (p.Val3016Ala) c.8600T>C (p.Val2867Ala) c.7937T>C (p.Val2646Ala) c.12452T>C (p.Val4151Ala) | |
| 5 | g.13692009A>T | CA113905443 | DNAH5 | n.1183T>A c.13850T>A (p.Val4617Asp) c.13805T>A (p.Val4602Asp) c.13958T>A (p.Val4653Asp) c.13538T>A (p.Val4513Asp) c.12863T>A (p.Val4288Asp) c.9047T>A (p.Val3016Asp) c.8600T>A (p.Val2867Asp) c.7937T>A (p.Val2646Asp) c.12452T>A (p.Val4151Asp) | dbSNP |
| 5 | g.13692010C>A | CA359188529 | DNAH5 | n.1182G>T c.13849G>T (p.Val4617Phe) c.13804G>T (p.Val4602Phe) c.13957G>T (p.Val4653Phe) c.13537G>T (p.Val4513Phe) c.12862G>T (p.Val4288Phe) c.9046G>T (p.Val3016Phe) c.8599G>T (p.Val2867Phe) c.7936G>T (p.Val2646Phe) c.12451G>T (p.Val4151Phe) | ClinVar gnomAD v4 |
| 5 | g.13692010C= | CA1528395842 | DNAH5 | n.1182G= c.13849G= (p.Val4617=) c.13804G= (p.Val4602=) c.13957G= (p.Val4653=) c.13537G= (p.Val4513=) c.12862G= (p.Val4288=) c.9046G= (p.Val3016=) c.8599G= (p.Val2867=) c.7936G= (p.Val2646=) c.12451G= (p.Val4151=) | |
| 5 | g.13692010C>G | CA359188530 | DNAH5 | n.1182G>C c.13849G>C (p.Val4617Leu) c.13804G>C (p.Val4602Leu) c.13957G>C (p.Val4653Leu) c.13537G>C (p.Val4513Leu) c.12862G>C (p.Val4288Leu) c.9046G>C (p.Val3016Leu) c.8599G>C (p.Val2867Leu) c.7936G>C (p.Val2646Leu) c.12451G>C (p.Val4151Leu) | |
| 5 | g.13692010C>T | CA113905445 | DNAH5 | n.1182G>A c.13849G>A (p.Val4617Ile) c.13804G>A (p.Val4602Ile) c.13957G>A (p.Val4653Ile) c.13537G>A (p.Val4513Ile) c.12862G>A (p.Val4288Ile) c.9046G>A (p.Val3016Ile) c.8599G>A (p.Val2867Ile) c.7936G>A (p.Val2646Ile) c.12451G>A (p.Val4151Ile) | dbSNP COSMIC |
| 5 | g.13692013del | CA2673266100 | DNAH5 | n.1182del c.13849del (p.Val4617LeufsTer28) c.13804del (p.Val4602LeufsTer28) c.13957del (p.Val4653LeufsTer28) c.13537del (p.Val4513LeufsTer28) c.12862del (p.Val4288LeufsTer28) c.9046del (p.Val3016LeufsTer28) c.8599del (p.Val2867LeufsTer28) c.7936del (p.Val2646LeufsTer28) c.12451del (p.Val4151LeufsTer28) | gnomAD v4 |
| 5 | g.13692011C>A | CA3201229 | DNAH5 | n.1181G>T c.13848G>T (p.Gly4616=) c.13803G>T (p.Gly4601=) c.13956G>T (p.Gly4652=) c.13536G>T (p.Gly4512=) c.12861G>T (p.Gly4287=) c.9045G>T (p.Gly3015=) c.8598G>T (p.Gly2866=) c.7935G>T (p.Gly2645=) c.12450G>T (p.Gly4150=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13692011C= | CA1528395843 | DNAH5 | n.1181G= c.13848G= (p.Gly4616=) c.13803G= (p.Gly4601=) c.13956G= (p.Gly4652=) c.13536G= (p.Gly4512=) c.12861G= (p.Gly4287=) c.9045G= (p.Gly3015=) c.8598G= (p.Gly2866=) c.7935G= (p.Gly2645=) c.12450G= (p.Gly4150=) | |
| 5 | g.13692011C>G | CA443248620 | DNAH5 | n.1181G>C c.13848G>C (p.Gly4616=) c.13803G>C (p.Gly4601=) c.13956G>C (p.Gly4652=) c.13536G>C (p.Gly4512=) c.12861G>C (p.Gly4287=) c.9045G>C (p.Gly3015=) c.8598G>C (p.Gly2866=) c.7935G>C (p.Gly2645=) c.12450G>C (p.Gly4150=) | |
| 5 | g.13692011C>T | CA443248619 | DNAH5 | n.1181G>A c.13848G>A (p.Gly4616=) c.13803G>A (p.Gly4601=) c.13956G>A (p.Gly4652=) c.13536G>A (p.Gly4512=) c.12861G>A (p.Gly4287=) c.9045G>A (p.Gly3015=) c.8598G>A (p.Gly2866=) c.7935G>A (p.Gly2645=) c.12450G>A (p.Gly4150=) | |
| 5 | g.13692012C>A | CA359188533 | DNAH5 | n.1180G>T c.13847G>T (p.Gly4616Val) c.13802G>T (p.Gly4601Val) c.13955G>T (p.Gly4652Val) c.13535G>T (p.Gly4512Val) c.12860G>T (p.Gly4287Val) c.9044G>T (p.Gly3015Val) c.8597G>T (p.Gly2866Val) c.7934G>T (p.Gly2645Val) c.12449G>T (p.Gly4150Val) | |
| 5 | g.13692012C>G | CA359188532 | DNAH5 | n.1180G>C c.13847G>C (p.Gly4616Ala) c.13802G>C (p.Gly4601Ala) c.13955G>C (p.Gly4652Ala) c.13535G>C (p.Gly4512Ala) c.12860G>C (p.Gly4287Ala) c.9044G>C (p.Gly3015Ala) c.8597G>C (p.Gly2866Ala) c.7934G>C (p.Gly2645Ala) c.12449G>C (p.Gly4150Ala) | |
| 5 | g.13692012C>T | CA359188531 | DNAH5 | n.1180G>A c.13847G>A (p.Gly4616Glu) c.13802G>A (p.Gly4601Glu) c.13955G>A (p.Gly4652Glu) c.13535G>A (p.Gly4512Glu) c.12860G>A (p.Gly4287Glu) c.9044G>A (p.Gly3015Glu) c.8597G>A (p.Gly2866Glu) c.7934G>A (p.Gly2645Glu) c.12449G>A (p.Gly4150Glu) | |
| 5 | g.13692013C>A | CA359188534 | DNAH5 | n.1179G>T c.13846G>T (p.Gly4616Trp) c.13801G>T (p.Gly4601Trp) c.13954G>T (p.Gly4652Trp) c.13534G>T (p.Gly4512Trp) c.12859G>T (p.Gly4287Trp) c.9043G>T (p.Gly3015Trp) c.8596G>T (p.Gly2866Trp) c.7933G>T (p.Gly2645Trp) c.12448G>T (p.Gly4150Trp) | |
| 5 | g.13692013C>G | CA359188535 | DNAH5 | n.1179G>C c.13846G>C (p.Gly4616Arg) c.13801G>C (p.Gly4601Arg) c.13954G>C (p.Gly4652Arg) c.13534G>C (p.Gly4512Arg) c.12859G>C (p.Gly4287Arg) c.9043G>C (p.Gly3015Arg) c.8596G>C (p.Gly2866Arg) c.7933G>C (p.Gly2645Arg) c.12448G>C (p.Gly4150Arg) | |
| 5 | g.13692013C>T | CA359188536 | DNAH5 | n.1179G>A c.13846G>A (p.Gly4616Arg) c.13801G>A (p.Gly4601Arg) c.13954G>A (p.Gly4652Arg) c.13534G>A (p.Gly4512Arg) c.12859G>A (p.Gly4287Arg) c.9043G>A (p.Gly3015Arg) c.8596G>A (p.Gly2866Arg) c.7933G>A (p.Gly2645Arg) c.12448G>A (p.Gly4150Arg) | COSMIC |
| 5 | g.13692014A>C | CA443248621 | DNAH5 | n.1178T>G c.13845T>G (p.Arg4615=) c.13800T>G (p.Arg4600=) c.13953T>G (p.Arg4651=) c.13533T>G (p.Arg4511=) c.12858T>G (p.Arg4286=) c.9042T>G (p.Arg3014=) c.8595T>G (p.Arg2865=) c.7932T>G (p.Arg2644=) c.12447T>G (p.Arg4149=) | |
| 5 | g.13692014A>G | CA443248622 | DNAH5 | n.1178T>C c.13845T>C (p.Arg4615=) c.13800T>C (p.Arg4600=) c.13953T>C (p.Arg4651=) c.13533T>C (p.Arg4511=) c.12858T>C (p.Arg4286=) c.9042T>C (p.Arg3014=) c.8595T>C (p.Arg2865=) c.7932T>C (p.Arg2644=) c.12447T>C (p.Arg4149=) | |
| 5 | g.13692014A>T | CA443248623 | DNAH5 | n.1178T>A c.13845T>A (p.Arg4615=) c.13800T>A (p.Arg4600=) c.13953T>A (p.Arg4651=) c.13533T>A (p.Arg4511=) c.12858T>A (p.Arg4286=) c.9042T>A (p.Arg3014=) c.8595T>A (p.Arg2865=) c.7932T>A (p.Arg2644=) c.12447T>A (p.Arg4149=) | |
| 5 | g.13692015C>A | CA359188537 | DNAH5 | n.1177G>T c.13844G>T (p.Arg4615Leu) c.13799G>T (p.Arg4600Leu) c.13952G>T (p.Arg4651Leu) c.13532G>T (p.Arg4511Leu) c.12857G>T (p.Arg4286Leu) c.9041G>T (p.Arg3014Leu) c.8594G>T (p.Arg2865Leu) c.7931G>T (p.Arg2644Leu) c.12446G>T (p.Arg4149Leu) | |
| 5 | g.13692015C= | CA1528395844 | DNAH5 | n.1177G= c.13844G= (p.Arg4615=) c.13799G= (p.Arg4600=) c.13952G= (p.Arg4651=) c.13532G= (p.Arg4511=) c.12857G= (p.Arg4286=) c.9041G= (p.Arg3014=) c.8594G= (p.Arg2865=) c.7931G= (p.Arg2644=) c.12446G= (p.Arg4149=) | |
| 5 | g.13692015C>G | CA359188538 | DNAH5 | n.1177G>C c.13844G>C (p.Arg4615Pro) c.13799G>C (p.Arg4600Pro) c.13952G>C (p.Arg4651Pro) c.13532G>C (p.Arg4511Pro) c.12857G>C (p.Arg4286Pro) c.9041G>C (p.Arg3014Pro) c.8594G>C (p.Arg2865Pro) c.7931G>C (p.Arg2644Pro) c.12446G>C (p.Arg4149Pro) | ClinVar |
| 5 | g.13692015C>T | CA359188539 | DNAH5 | n.1177G>A c.13844G>A (p.Arg4615His) c.13799G>A (p.Arg4600His) c.13952G>A (p.Arg4651His) c.13532G>A (p.Arg4511His) c.12857G>A (p.Arg4286His) c.9041G>A (p.Arg3014His) c.8594G>A (p.Arg2865His) c.7931G>A (p.Arg2644His) c.12446G>A (p.Arg4149His) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13692016G>A | CA3201230 | DNAH5 | n.1176C>T c.13843C>T (p.Arg4615Cys) c.13798C>T (p.Arg4600Cys) c.13951C>T (p.Arg4651Cys) c.13531C>T (p.Arg4511Cys) c.12856C>T (p.Arg4286Cys) c.9040C>T (p.Arg3014Cys) c.8593C>T (p.Arg2865Cys) c.7930C>T (p.Arg2644Cys) c.12445C>T (p.Arg4149Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13692016G>C | CA359188540 | DNAH5 | n.1176C>G c.13843C>G (p.Arg4615Gly) c.13798C>G (p.Arg4600Gly) c.13951C>G (p.Arg4651Gly) c.13531C>G (p.Arg4511Gly) c.12856C>G (p.Arg4286Gly) c.9040C>G (p.Arg3014Gly) c.8593C>G (p.Arg2865Gly) c.7930C>G (p.Arg2644Gly) c.12445C>G (p.Arg4149Gly) | |
| 5 | g.13692016G= | CA1528395845 | DNAH5 | n.1176C= c.13843C= (p.Arg4615=) c.13798C= (p.Arg4600=) c.13951C= (p.Arg4651=) c.13531C= (p.Arg4511=) c.12856C= (p.Arg4286=) c.9040C= (p.Arg3014=) c.8593C= (p.Arg2865=) c.7930C= (p.Arg2644=) c.12445C= (p.Arg4149=) | |
| 5 | g.13692016G>T | CA359188541 | DNAH5 | n.1176C>A c.13843C>A (p.Arg4615Ser) c.13798C>A (p.Arg4600Ser) c.13951C>A (p.Arg4651Ser) c.13531C>A (p.Arg4511Ser) c.12856C>A (p.Arg4286Ser) c.9040C>A (p.Arg3014Ser) c.8593C>A (p.Arg2865Ser) c.7930C>A (p.Arg2644Ser) c.12445C>A (p.Arg4149Ser) | |
| 5 | g.13692017G>A | CA443248625 | DNAH5 | n.1175C>T c.13842C>T (p.Leu4614=) c.13797C>T (p.Leu4599=) c.13950C>T (p.Leu4650=) c.13530C>T (p.Leu4510=) c.12855C>T (p.Leu4285=) c.9039C>T (p.Leu3013=) c.8592C>T (p.Leu2864=) c.7929C>T (p.Leu2643=) c.12444C>T (p.Leu4148=) | |
| 5 | g.13692017G>C | CA443248627 | DNAH5 | n.1175C>G c.13842C>G (p.Leu4614=) c.13797C>G (p.Leu4599=) c.13950C>G (p.Leu4650=) c.13530C>G (p.Leu4510=) c.12855C>G (p.Leu4285=) c.9039C>G (p.Leu3013=) c.8592C>G (p.Leu2864=) c.7929C>G (p.Leu2643=) c.12444C>G (p.Leu4148=) | |
| 5 | g.13692017G>T | CA443248629 | DNAH5 | n.1175C>A c.13842C>A (p.Leu4614=) c.13797C>A (p.Leu4599=) c.13950C>A (p.Leu4650=) c.13530C>A (p.Leu4510=) c.12855C>A (p.Leu4285=) c.9039C>A (p.Leu3013=) c.8592C>A (p.Leu2864=) c.7929C>A (p.Leu2643=) c.12444C>A (p.Leu4148=) | |
| 5 | g.13692018A>C | CA359188542 | DNAH5 | n.1174T>G c.13841T>G (p.Leu4614Arg) c.13796T>G (p.Leu4599Arg) c.13949T>G (p.Leu4650Arg) c.13529T>G (p.Leu4510Arg) c.12854T>G (p.Leu4285Arg) c.9038T>G (p.Leu3013Arg) c.8591T>G (p.Leu2864Arg) c.7928T>G (p.Leu2643Arg) c.12443T>G (p.Leu4148Arg) | |
| 5 | g.13692018A>G | CA359188543 | DNAH5 | n.1174T>C c.13841T>C (p.Leu4614Pro) c.13796T>C (p.Leu4599Pro) c.13949T>C (p.Leu4650Pro) c.13529T>C (p.Leu4510Pro) c.12854T>C (p.Leu4285Pro) c.9038T>C (p.Leu3013Pro) c.8591T>C (p.Leu2864Pro) c.7928T>C (p.Leu2643Pro) c.12443T>C (p.Leu4148Pro) | |
| 5 | g.13692018A>T | CA359188544 | DNAH5 | n.1174T>A c.13841T>A (p.Leu4614His) c.13796T>A (p.Leu4599His) c.13949T>A (p.Leu4650His) c.13529T>A (p.Leu4510His) c.12854T>A (p.Leu4285His) c.9038T>A (p.Leu3013His) c.8591T>A (p.Leu2864His) c.7928T>A (p.Leu2643His) c.12443T>A (p.Leu4148His) | |
| 5 | g.13692019G>A | CA359188547 | DNAH5 | n.1173C>T c.13840C>T (p.Leu4614Phe) c.13795C>T (p.Leu4599Phe) c.13948C>T (p.Leu4650Phe) c.13528C>T (p.Leu4510Phe) c.12853C>T (p.Leu4285Phe) c.9037C>T (p.Leu3013Phe) c.8590C>T (p.Leu2864Phe) c.7927C>T (p.Leu2643Phe) c.12442C>T (p.Leu4148Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13692019G>C | CA359188546 | DNAH5 | n.1173C>G c.13840C>G (p.Leu4614Val) c.13795C>G (p.Leu4599Val) c.13948C>G (p.Leu4650Val) c.13528C>G (p.Leu4510Val) c.12853C>G (p.Leu4285Val) c.9037C>G (p.Leu3013Val) c.8590C>G (p.Leu2864Val) c.7927C>G (p.Leu2643Val) c.12442C>G (p.Leu4148Val) | |
| 5 | g.13692019G= | CA1528395846 | DNAH5 | n.1173C= c.13840C= (p.Leu4614=) c.13795C= (p.Leu4599=) c.13948C= (p.Leu4650=) c.13528C= (p.Leu4510=) c.12853C= (p.Leu4285=) c.9037C= (p.Leu3013=) c.8590C= (p.Leu2864=) c.7927C= (p.Leu2643=) c.12442C= (p.Leu4148=) | |
| 5 | g.13692019G>T | CA359188545 | DNAH5 | n.1173C>A c.13840C>A (p.Leu4614Ile) c.13795C>A (p.Leu4599Ile) c.13948C>A (p.Leu4650Ile) c.13528C>A (p.Leu4510Ile) c.12853C>A (p.Leu4285Ile) c.9037C>A (p.Leu3013Ile) c.8590C>A (p.Leu2864Ile) c.7927C>A (p.Leu2643Ile) c.12442C>A (p.Leu4148Ile) | |
| 5 | g.13692020C>A | CA443248631 | DNAH5 | n.1172G>T c.13839G>T (p.Val4613=) c.13794G>T (p.Val4598=) c.13947G>T (p.Val4649=) c.13527G>T (p.Val4509=) c.12852G>T (p.Val4284=) c.9036G>T (p.Val3012=) c.8589G>T (p.Val2863=) c.7926G>T (p.Val2642=) c.12441G>T (p.Val4147=) | dbSNP |
| 5 | g.13692020C= | CA1528395847 | DNAH5 | n.1172G= c.13839G= (p.Val4613=) c.13794G= (p.Val4598=) c.13947G= (p.Val4649=) c.13527G= (p.Val4509=) c.12852G= (p.Val4284=) c.9036G= (p.Val3012=) c.8589G= (p.Val2863=) c.7926G= (p.Val2642=) c.12441G= (p.Val4147=) | |
| 5 | g.13692020C>G | CA443248632 | DNAH5 | n.1172G>C c.13839G>C (p.Val4613=) c.13794G>C (p.Val4598=) c.13947G>C (p.Val4649=) c.13527G>C (p.Val4509=) c.12852G>C (p.Val4284=) c.9036G>C (p.Val3012=) c.8589G>C (p.Val2863=) c.7926G>C (p.Val2642=) c.12441G>C (p.Val4147=) | |
| 5 | g.13692020C>T | CA443248634 | DNAH5 | n.1172G>A c.13839G>A (p.Val4613=) c.13794G>A (p.Val4598=) c.13947G>A (p.Val4649=) c.13527G>A (p.Val4509=) c.12852G>A (p.Val4284=) c.9036G>A (p.Val3012=) c.8589G>A (p.Val2863=) c.7926G>A (p.Val2642=) c.12441G>A (p.Val4147=) | ClinVar |
| 5 | g.13692021A>C | CA359188548 | DNAH5 | n.1171T>G c.13838T>G (p.Val4613Gly) c.13793T>G (p.Val4598Gly) c.13946T>G (p.Val4649Gly) c.13526T>G (p.Val4509Gly) c.12851T>G (p.Val4284Gly) c.9035T>G (p.Val3012Gly) c.8588T>G (p.Val2863Gly) c.7925T>G (p.Val2642Gly) c.12440T>G (p.Val4147Gly) | |
| 5 | g.13692021A>G | CA359188550 | DNAH5 | n.1171T>C c.13838T>C (p.Val4613Ala) c.13793T>C (p.Val4598Ala) c.13946T>C (p.Val4649Ala) c.13526T>C (p.Val4509Ala) c.12851T>C (p.Val4284Ala) c.9035T>C (p.Val3012Ala) c.8588T>C (p.Val2863Ala) c.7925T>C (p.Val2642Ala) c.12440T>C (p.Val4147Ala) | |
| 5 | g.13692021A>T | CA359188549 | DNAH5 | n.1171T>A c.13838T>A (p.Val4613Glu) c.13793T>A (p.Val4598Glu) c.13946T>A (p.Val4649Glu) c.13526T>A (p.Val4509Glu) c.12851T>A (p.Val4284Glu) c.9035T>A (p.Val3012Glu) c.8588T>A (p.Val2863Glu) c.7925T>A (p.Val2642Glu) c.12440T>A (p.Val4147Glu) | |
| 5 | g.13692021_13692022delinsAC | CA1528395848 | DNAH5 | n.1170_1171delinsGT c.13837_13838delinsGT (p.Val4613=) c.13792_13793delinsGT (p.Val4598=) c.13945_13946delinsGT (p.Val4649=) c.13525_13526delinsGT (p.Val4509=) c.12850_12851delinsGT (p.Val4284=) c.9034_9035delinsGT (p.Val3012=) c.8587_8588delinsGT (p.Val2863=) c.7924_7925delinsGT (p.Val2642=) c.12439_12440delinsGT (p.Val4147=) | |
| 5 | g.13692022C>A | CA359188551 | DNAH5 | n.1170G>T c.13837G>T (p.Val4613Leu) c.13792G>T (p.Val4598Leu) c.13945G>T (p.Val4649Leu) c.13525G>T (p.Val4509Leu) c.12850G>T (p.Val4284Leu) c.9034G>T (p.Val3012Leu) c.8587G>T (p.Val2863Leu) c.7924G>T (p.Val2642Leu) c.12439G>T (p.Val4147Leu) | gnomAD v4 |
| 5 | g.13692022C= | CA1528395850 | DNAH5 | n.1170G= c.13837G= (p.Val4613=) c.13792G= (p.Val4598=) c.13945G= (p.Val4649=) c.13525G= (p.Val4509=) c.12850G= (p.Val4284=) c.9034G= (p.Val3012=) c.8587G= (p.Val2863=) c.7924G= (p.Val2642=) c.12439G= (p.Val4147=) | |
| 5 | g.13692022C>G | CA359188552 | DNAH5 | n.1170G>C c.13837G>C (p.Val4613Leu) c.13792G>C (p.Val4598Leu) c.13945G>C (p.Val4649Leu) c.13525G>C (p.Val4509Leu) c.12850G>C (p.Val4284Leu) c.9034G>C (p.Val3012Leu) c.8587G>C (p.Val2863Leu) c.7924G>C (p.Val2642Leu) c.12439G>C (p.Val4147Leu) | |
| 5 | g.13692022C>T | CA3201231 | DNAH5 | n.1170G>A c.13837G>A (p.Val4613Met) c.13792G>A (p.Val4598Met) c.13945G>A (p.Val4649Met) c.13525G>A (p.Val4509Met) c.12850G>A (p.Val4284Met) c.9034G>A (p.Val3012Met) c.8587G>A (p.Val2863Met) c.7924G>A (p.Val2642Met) c.12439G>A (p.Val4147Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13692024dup | CA2673266101 | DNAH5 | n.1170dup c.13837dup (p.Val4613GlyfsTer10) c.13792dup (p.Val4598GlyfsTer10) c.13945dup (p.Val4649GlyfsTer10) c.13525dup (p.Val4509GlyfsTer10) c.12850dup (p.Val4284GlyfsTer10) c.9034dup (p.Val3012GlyfsTer10) c.8587dup (p.Val2863GlyfsTer10) c.7924dup (p.Val2642GlyfsTer10) c.12439dup (p.Val4147GlyfsTer10) | gnomAD v4 |
| 5 | g.13692024del | CA1528395849 | DNAH5 | n.1170del c.13837del (p.Val4613CysfsTer?) c.13792del (p.Val4598CysfsTer?) c.13945del (p.Val4649CysfsTer?) c.13525del (p.Val4509CysfsTer?) c.12850del (p.Val4284CysfsTer?) c.9034del (p.Val3012CysfsTer?) c.8587del (p.Val2863CysfsTer?) c.7924del (p.Val2642CysfsTer?) c.12439del (p.Val4147CysfsTer?) | dbSNP gnomAD v4 |
| 5 | g.13692023C>A | CA359188553 | DNAH5 | n.1169G>T c.13836G>T (p.Trp4612Cys) c.13791G>T (p.Trp4597Cys) c.13944G>T (p.Trp4648Cys) c.13524G>T (p.Trp4508Cys) c.12849G>T (p.Trp4283Cys) c.9033G>T (p.Trp3011Cys) c.8586G>T (p.Trp2862Cys) c.7923G>T (p.Trp2641Cys) c.12438G>T (p.Trp4146Cys) | dbSNP |
| 5 | g.13692023C>G | CA359188554 | DNAH5 | n.1169G>C c.13836G>C (p.Trp4612Cys) c.13791G>C (p.Trp4597Cys) c.13944G>C (p.Trp4648Cys) c.13524G>C (p.Trp4508Cys) c.12849G>C (p.Trp4283Cys) c.9033G>C (p.Trp3011Cys) c.8586G>C (p.Trp2862Cys) c.7923G>C (p.Trp2641Cys) c.12438G>C (p.Trp4146Cys) | |
| 5 | g.13692023C>T | CA359188555 | DNAH5 | n.1169G>A c.13836G>A (p.Trp4612Ter) c.13791G>A (p.Trp4597Ter) c.13944G>A (p.Trp4648Ter) c.13524G>A (p.Trp4508Ter) c.12849G>A (p.Trp4283Ter) c.9033G>A (p.Trp3011Ter) c.8586G>A (p.Trp2862Ter) c.7923G>A (p.Trp2641Ter) c.12438G>A (p.Trp4146Ter) | |
| 5 | g.13692024C>A | CA359188556 | DNAH5 | n.1168G>T c.13835G>T (p.Trp4612Leu) c.13790G>T (p.Trp4597Leu) c.13943G>T (p.Trp4648Leu) c.13523G>T (p.Trp4508Leu) c.12848G>T (p.Trp4283Leu) c.9032G>T (p.Trp3011Leu) c.8585G>T (p.Trp2862Leu) c.7922G>T (p.Trp2641Leu) c.12437G>T (p.Trp4146Leu) | |
| 5 | g.13692024C>G | CA359188557 | DNAH5 | n.1168G>C c.13835G>C (p.Trp4612Ser) c.13790G>C (p.Trp4597Ser) c.13943G>C (p.Trp4648Ser) c.13523G>C (p.Trp4508Ser) c.12848G>C (p.Trp4283Ser) c.9032G>C (p.Trp3011Ser) c.8585G>C (p.Trp2862Ser) c.7922G>C (p.Trp2641Ser) c.12437G>C (p.Trp4146Ser) | |
| 5 | g.13692024C>T | CA359188558 | DNAH5 | n.1168G>A c.13835G>A (p.Trp4612Ter) c.13790G>A (p.Trp4597Ter) c.13943G>A (p.Trp4648Ter) c.13523G>A (p.Trp4508Ter) c.12848G>A (p.Trp4283Ter) c.9032G>A (p.Trp3011Ter) c.8585G>A (p.Trp2862Ter) c.7922G>A (p.Trp2641Ter) c.12437G>A (p.Trp4146Ter) | gnomAD v4 |
| 5 | g.13692025A>C | CA359188559 | DNAH5 | n.1167T>G c.13834T>G (p.Trp4612Gly) c.13789T>G (p.Trp4597Gly) c.13942T>G (p.Trp4648Gly) c.13522T>G (p.Trp4508Gly) c.12847T>G (p.Trp4283Gly) c.9031T>G (p.Trp3011Gly) c.8584T>G (p.Trp2862Gly) c.7921T>G (p.Trp2641Gly) c.12436T>G (p.Trp4146Gly) | |
| 5 | g.13692025A>G | CA359188560 | DNAH5 | n.1167T>C c.13834T>C (p.Trp4612Arg) c.13789T>C (p.Trp4597Arg) c.13942T>C (p.Trp4648Arg) c.13522T>C (p.Trp4508Arg) c.12847T>C (p.Trp4283Arg) c.9031T>C (p.Trp3011Arg) c.8584T>C (p.Trp2862Arg) c.7921T>C (p.Trp2641Arg) c.12436T>C (p.Trp4146Arg) | |
| 5 | g.13692025A>T | CA359188561 | DNAH5 | n.1167T>A c.13834T>A (p.Trp4612Arg) c.13789T>A (p.Trp4597Arg) c.13942T>A (p.Trp4648Arg) c.13522T>A (p.Trp4508Arg) c.12847T>A (p.Trp4283Arg) c.9031T>A (p.Trp3011Arg) c.8584T>A (p.Trp2862Arg) c.7921T>A (p.Trp2641Arg) c.12436T>A (p.Trp4146Arg) | |
| 5 | g.13692026G>A | CA443248639 | DNAH5 | n.1166C>T c.13833C>T (p.His4611=) c.13788C>T (p.His4596=) c.13941C>T (p.His4647=) c.13521C>T (p.His4507=) c.12846C>T (p.His4282=) c.9030C>T (p.His3010=) c.8583C>T (p.His2861=) c.7920C>T (p.His2640=) c.12435C>T (p.His4145=) | gnomAD v4 |
| 5 | g.13692026G>C | CA359188562 | DNAH5 | n.1166C>G c.13833C>G (p.His4611Gln) c.13788C>G (p.His4596Gln) c.13941C>G (p.His4647Gln) c.13521C>G (p.His4507Gln) c.12846C>G (p.His4282Gln) c.9030C>G (p.His3010Gln) c.8583C>G (p.His2861Gln) c.7920C>G (p.His2640Gln) c.12435C>G (p.His4145Gln) | gnomAD v4 |
| 5 | g.13692026G>T | CA359188563 | DNAH5 | n.1166C>A c.13833C>A (p.His4611Gln) c.13788C>A (p.His4596Gln) c.13941C>A (p.His4647Gln) c.13521C>A (p.His4507Gln) c.12846C>A (p.His4282Gln) c.9030C>A (p.His3010Gln) c.8583C>A (p.His2861Gln) c.7920C>A (p.His2640Gln) c.12435C>A (p.His4145Gln) | |
| 5 | g.13692027T>A | CA359188566 | DNAH5 | n.1165A>T c.13832A>T (p.His4611Leu) c.13787A>T (p.His4596Leu) c.13940A>T (p.His4647Leu) c.13520A>T (p.His4507Leu) c.12845A>T (p.His4282Leu) c.9029A>T (p.His3010Leu) c.8582A>T (p.His2861Leu) c.7919A>T (p.His2640Leu) c.12434A>T (p.His4145Leu) | |
| 5 | g.13692027T>C | CA359188564 | DNAH5 | n.1165A>G c.13832A>G (p.His4611Arg) c.13787A>G (p.His4596Arg) c.13940A>G (p.His4647Arg) c.13520A>G (p.His4507Arg) c.12845A>G (p.His4282Arg) c.9029A>G (p.His3010Arg) c.8582A>G (p.His2861Arg) c.7919A>G (p.His2640Arg) c.12434A>G (p.His4145Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13692027T>G | CA359188565 | DNAH5 | n.1165A>C c.13832A>C (p.His4611Pro) c.13787A>C (p.His4596Pro) c.13940A>C (p.His4647Pro) c.13520A>C (p.His4507Pro) c.12845A>C (p.His4282Pro) c.9029A>C (p.His3010Pro) c.8582A>C (p.His2861Pro) c.7919A>C (p.His2640Pro) c.12434A>C (p.His4145Pro) | |
| 5 | g.13692027T= | CA1528395851 | DNAH5 | n.1165A= c.13832A= (p.His4611=) c.13787A= (p.His4596=) c.13940A= (p.His4647=) c.13520A= (p.His4507=) c.12845A= (p.His4282=) c.9029A= (p.His3010=) c.8582A= (p.His2861=) c.7919A= (p.His2640=) c.12434A= (p.His4145=) | |
| 5 | g.13692028G>A | CA359188567 | DNAH5 | n.1164C>T c.13831C>T (p.His4611Tyr) c.13786C>T (p.His4596Tyr) c.13939C>T (p.His4647Tyr) c.13519C>T (p.His4507Tyr) c.12844C>T (p.His4282Tyr) c.9028C>T (p.His3010Tyr) c.8581C>T (p.His2861Tyr) c.7918C>T (p.His2640Tyr) c.12433C>T (p.His4145Tyr) | |
| 5 | g.13692028G>C | CA359188568 | DNAH5 | n.1164C>G c.13831C>G (p.His4611Asp) c.13786C>G (p.His4596Asp) c.13939C>G (p.His4647Asp) c.13519C>G (p.His4507Asp) c.12844C>G (p.His4282Asp) c.9028C>G (p.His3010Asp) c.8581C>G (p.His2861Asp) c.7918C>G (p.His2640Asp) c.12433C>G (p.His4145Asp) | gnomAD v4 |
| 5 | g.13692028G>T | CA359188569 | DNAH5 | n.1164C>A c.13831C>A (p.His4611Asn) c.13786C>A (p.His4596Asn) c.13939C>A (p.His4647Asn) c.13519C>A (p.His4507Asn) c.12844C>A (p.His4282Asn) c.9028C>A (p.His3010Asn) c.8581C>A (p.His2861Asn) c.7918C>A (p.His2640Asn) c.12433C>A (p.His4145Asn) | |
| 5 | g.13692029T>A | CA359188570 | DNAH5 | n.1163A>T c.13830A>T (p.Glu4610Asp) c.13785A>T (p.Glu4595Asp) c.13938A>T (p.Glu4646Asp) c.13518A>T (p.Glu4506Asp) c.12843A>T (p.Glu4281Asp) c.9027A>T (p.Glu3009Asp) c.8580A>T (p.Glu2860Asp) c.7917A>T (p.Glu2639Asp) c.12432A>T (p.Glu4144Asp) | |
| 5 | g.13692029T>C | CA443248642 | DNAH5 | n.1163A>G c.13830A>G (p.Glu4610=) c.13785A>G (p.Glu4595=) c.13938A>G (p.Glu4646=) c.13518A>G (p.Glu4506=) c.12843A>G (p.Glu4281=) c.9027A>G (p.Glu3009=) c.8580A>G (p.Glu2860=) c.7917A>G (p.Glu2639=) c.12432A>G (p.Glu4144=) | gnomAD v4 |
| 5 | g.13692029T>G | CA359188571 | DNAH5 | n.1163A>C c.13830A>C (p.Glu4610Asp) c.13785A>C (p.Glu4595Asp) c.13938A>C (p.Glu4646Asp) c.13518A>C (p.Glu4506Asp) c.12843A>C (p.Glu4281Asp) c.9027A>C (p.Glu3009Asp) c.8580A>C (p.Glu2860Asp) c.7917A>C (p.Glu2639Asp) c.12432A>C (p.Glu4144Asp) | |
| 5 | g.13692030T>A | CA359188572 | DNAH5 | n.1162A>T c.13829A>T (p.Glu4610Val) c.13784A>T (p.Glu4595Val) c.13937A>T (p.Glu4646Val) c.13517A>T (p.Glu4506Val) c.12842A>T (p.Glu4281Val) c.9026A>T (p.Glu3009Val) c.8579A>T (p.Glu2860Val) c.7916A>T (p.Glu2639Val) c.12431A>T (p.Glu4144Val) | |
| 5 | g.13692030T>C | CA359188573 | DNAH5 | n.1162A>G c.13829A>G (p.Glu4610Gly) c.13784A>G (p.Glu4595Gly) c.13937A>G (p.Glu4646Gly) c.13517A>G (p.Glu4506Gly) c.12842A>G (p.Glu4281Gly) c.9026A>G (p.Glu3009Gly) c.8579A>G (p.Glu2860Gly) c.7916A>G (p.Glu2639Gly) c.12431A>G (p.Glu4144Gly) | |
| 5 | g.13692030T>G | CA359188574 | DNAH5 | n.1162A>C c.13829A>C (p.Glu4610Ala) c.13784A>C (p.Glu4595Ala) c.13937A>C (p.Glu4646Ala) c.13517A>C (p.Glu4506Ala) c.12842A>C (p.Glu4281Ala) c.9026A>C (p.Glu3009Ala) c.8579A>C (p.Glu2860Ala) c.7916A>C (p.Glu2639Ala) c.12431A>C (p.Glu4144Ala) | |
| 5 | g.13692031_13692039del | CA2673266102 | DNAH5 | n.1154_1162del c.13821_13829del (p.Thr4608_Glu4610del) c.13776_13784del (p.Thr4593_Glu4595del) c.13929_13937del (p.Thr4644_Glu4646del) c.13509_13517del (p.Thr4504_Glu4506del) c.12834_12842del (p.Thr4279_Glu4281del) c.9018_9026del (p.Thr3007_Glu3009del) c.8571_8579del (p.Thr2858_Glu2860del) c.7908_7916del (p.Thr2637_Glu2639del) c.12423_12431del (p.Thr4142_Glu4144del) | gnomAD v4 |
| 5 | g.13692031C>A | CA359188575 | DNAH5 | n.1161G>T c.13828G>T (p.Glu4610Ter) c.13783G>T (p.Glu4595Ter) c.13936G>T (p.Glu4646Ter) c.13516G>T (p.Glu4506Ter) c.12841G>T (p.Glu4281Ter) c.9025G>T (p.Glu3009Ter) c.8578G>T (p.Glu2860Ter) c.7915G>T (p.Glu2639Ter) c.12430G>T (p.Glu4144Ter) | |
| 5 | g.13692031C>G | CA359188576 | DNAH5 | n.1161G>C c.13828G>C (p.Glu4610Gln) c.13783G>C (p.Glu4595Gln) c.13936G>C (p.Glu4646Gln) c.13516G>C (p.Glu4506Gln) c.12841G>C (p.Glu4281Gln) c.9025G>C (p.Glu3009Gln) c.8578G>C (p.Glu2860Gln) c.7915G>C (p.Glu2639Gln) c.12430G>C (p.Glu4144Gln) | gnomAD v4 |
| 5 | g.13692031C>T | CA359188577 | DNAH5 | n.1161G>A c.13828G>A (p.Glu4610Lys) c.13783G>A (p.Glu4595Lys) c.13936G>A (p.Glu4646Lys) c.13516G>A (p.Glu4506Lys) c.12841G>A (p.Glu4281Lys) c.9025G>A (p.Glu3009Lys) c.8578G>A (p.Glu2860Lys) c.7915G>A (p.Glu2639Lys) c.12430G>A (p.Glu4144Lys) | |
| 5 | g.13692032A= | CA1528395852 | DNAH5 | n.1160T= c.13827T= (p.Pro4609=) c.13782T= (p.Pro4594=) c.13935T= (p.Pro4645=) c.13515T= (p.Pro4505=) c.12840T= (p.Pro4280=) c.9024T= (p.Pro3008=) c.8577T= (p.Pro2859=) c.7914T= (p.Pro2638=) c.12429T= (p.Pro4143=) | |
| 5 | g.13692032A>C | CA443248645 | DNAH5 | n.1160T>G c.13827T>G (p.Pro4609=) c.13782T>G (p.Pro4594=) c.13935T>G (p.Pro4645=) c.13515T>G (p.Pro4505=) c.12840T>G (p.Pro4280=) c.9024T>G (p.Pro3008=) c.8577T>G (p.Pro2859=) c.7914T>G (p.Pro2638=) c.12429T>G (p.Pro4143=) | |
| 5 | g.13692032A>G | CA3201232 | DNAH5 | n.1160T>C c.13827T>C (p.Pro4609=) c.13782T>C (p.Pro4594=) c.13935T>C (p.Pro4645=) c.13515T>C (p.Pro4505=) c.12840T>C (p.Pro4280=) c.9024T>C (p.Pro3008=) c.8577T>C (p.Pro2859=) c.7914T>C (p.Pro2638=) c.12429T>C (p.Pro4143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13692032A>T | CA443248647 | DNAH5 | n.1160T>A c.13827T>A (p.Pro4609=) c.13782T>A (p.Pro4594=) c.13935T>A (p.Pro4645=) c.13515T>A (p.Pro4505=) c.12840T>A (p.Pro4280=) c.9024T>A (p.Pro3008=) c.8577T>A (p.Pro2859=) c.7914T>A (p.Pro2638=) c.12429T>A (p.Pro4143=) | |
| 5 | g.13692033G>A | CA359188580 | DNAH5 | n.1159C>T c.13826C>T (p.Pro4609Leu) c.13781C>T (p.Pro4594Leu) c.13934C>T (p.Pro4645Leu) c.13514C>T (p.Pro4505Leu) c.12839C>T (p.Pro4280Leu) c.9023C>T (p.Pro3008Leu) c.8576C>T (p.Pro2859Leu) c.7913C>T (p.Pro2638Leu) c.12428C>T (p.Pro4143Leu) | |
| 5 | g.13692033G>C | CA359188578 | DNAH5 | n.1159C>G c.13826C>G (p.Pro4609Arg) c.13781C>G (p.Pro4594Arg) c.13934C>G (p.Pro4645Arg) c.13514C>G (p.Pro4505Arg) c.12839C>G (p.Pro4280Arg) c.9023C>G (p.Pro3008Arg) c.8576C>G (p.Pro2859Arg) c.7913C>G (p.Pro2638Arg) c.12428C>G (p.Pro4143Arg) | |
| 5 | g.13692033G>T | CA359188579 | DNAH5 | n.1159C>A c.13826C>A (p.Pro4609His) c.13781C>A (p.Pro4594His) c.13934C>A (p.Pro4645His) c.13514C>A (p.Pro4505His) c.12839C>A (p.Pro4280His) c.9023C>A (p.Pro3008His) c.8576C>A (p.Pro2859His) c.7913C>A (p.Pro2638His) c.12428C>A (p.Pro4143His) | |
| 5 | g.13692034G>A | CA359188581 | DNAH5 | n.1158C>T c.13825C>T (p.Pro4609Ser) c.13780C>T (p.Pro4594Ser) c.13933C>T (p.Pro4645Ser) c.13513C>T (p.Pro4505Ser) c.12838C>T (p.Pro4280Ser) c.9022C>T (p.Pro3008Ser) c.8575C>T (p.Pro2859Ser) c.7912C>T (p.Pro2638Ser) c.12427C>T (p.Pro4143Ser) | |
| 5 | g.13692034G>C | CA359188582 | DNAH5 | n.1158C>G c.13825C>G (p.Pro4609Ala) c.13780C>G (p.Pro4594Ala) c.13933C>G (p.Pro4645Ala) c.13513C>G (p.Pro4505Ala) c.12838C>G (p.Pro4280Ala) c.9022C>G (p.Pro3008Ala) c.8575C>G (p.Pro2859Ala) c.7912C>G (p.Pro2638Ala) c.12427C>G (p.Pro4143Ala) | ClinVar |
| 5 | g.13692034G= | CA1528395853 | DNAH5 | n.1158C= c.13825C= (p.Pro4609=) c.13780C= (p.Pro4594=) c.13933C= (p.Pro4645=) c.13513C= (p.Pro4505=) c.12838C= (p.Pro4280=) c.9022C= (p.Pro3008=) c.8575C= (p.Pro2859=) c.7912C= (p.Pro2638=) c.12427C= (p.Pro4143=) | |
| 5 | g.13692034G>T | CA10622671 | DNAH5 | n.1158C>A c.13825C>A (p.Pro4609Thr) c.13780C>A (p.Pro4594Thr) c.13933C>A (p.Pro4645Thr) c.13513C>A (p.Pro4505Thr) c.12838C>A (p.Pro4280Thr) c.9022C>A (p.Pro3008Thr) c.8575C>A (p.Pro2859Thr) c.7912C>A (p.Pro2638Thr) c.12427C>A (p.Pro4143Thr) | ClinVar dbSNP |
| 5 | g.13692035G>A | CA443248652 | DNAH5 | n.1157C>T c.13824C>T (p.Thr4608=) c.13779C>T (p.Thr4593=) c.13932C>T (p.Thr4644=) c.13512C>T (p.Thr4504=) c.12837C>T (p.Thr4279=) c.9021C>T (p.Thr3007=) c.8574C>T (p.Thr2858=) c.7911C>T (p.Thr2637=) c.12426C>T (p.Thr4142=) | gnomAD v4 |
| 5 | g.13692035G>C | CA443248653 | DNAH5 | n.1157C>G c.13824C>G (p.Thr4608=) c.13779C>G (p.Thr4593=) c.13932C>G (p.Thr4644=) c.13512C>G (p.Thr4504=) c.12837C>G (p.Thr4279=) c.9021C>G (p.Thr3007=) c.8574C>G (p.Thr2858=) c.7911C>G (p.Thr2637=) c.12426C>G (p.Thr4142=) | gnomAD v4 |
| 5 | g.13692035G>T | CA443248654 | DNAH5 | n.1157C>A c.13824C>A (p.Thr4608=) c.13779C>A (p.Thr4593=) c.13932C>A (p.Thr4644=) c.13512C>A (p.Thr4504=) c.12837C>A (p.Thr4279=) c.9021C>A (p.Thr3007=) c.8574C>A (p.Thr2858=) c.7911C>A (p.Thr2637=) c.12426C>A (p.Thr4142=) | |
| 5 | g.13692036G>A | CA359188583 | DNAH5 | n.1156C>T c.13823C>T (p.Thr4608Ile) c.13778C>T (p.Thr4593Ile) c.13931C>T (p.Thr4644Ile) c.13511C>T (p.Thr4504Ile) c.12836C>T (p.Thr4279Ile) c.9020C>T (p.Thr3007Ile) c.8573C>T (p.Thr2858Ile) c.7910C>T (p.Thr2637Ile) c.12425C>T (p.Thr4142Ile) | gnomAD v4 |
| 5 | g.13692036G>C | CA359188584 | DNAH5 | n.1156C>G c.13823C>G (p.Thr4608Ser) c.13778C>G (p.Thr4593Ser) c.13931C>G (p.Thr4644Ser) c.13511C>G (p.Thr4504Ser) c.12836C>G (p.Thr4279Ser) c.9020C>G (p.Thr3007Ser) c.8573C>G (p.Thr2858Ser) c.7910C>G (p.Thr2637Ser) c.12425C>G (p.Thr4142Ser) | dbSNP gnomAD v4 |
| 5 | g.13692036G= | CA1528395854 | DNAH5 | n.1156C= c.13823C= (p.Thr4608=) c.13778C= (p.Thr4593=) c.13931C= (p.Thr4644=) c.13511C= (p.Thr4504=) c.12836C= (p.Thr4279=) c.9020C= (p.Thr3007=) c.8573C= (p.Thr2858=) c.7910C= (p.Thr2637=) c.12425C= (p.Thr4142=) | |
| 5 | g.13692036G>T | CA359188585 | DNAH5 | n.1156C>A c.13823C>A (p.Thr4608Asn) c.13778C>A (p.Thr4593Asn) c.13931C>A (p.Thr4644Asn) c.13511C>A (p.Thr4504Asn) c.12836C>A (p.Thr4279Asn) c.9020C>A (p.Thr3007Asn) c.8573C>A (p.Thr2858Asn) c.7910C>A (p.Thr2637Asn) c.12425C>A (p.Thr4142Asn) | |
| 5 | g.13692037T>A | CA359188586 | DNAH5 | n.1155A>T c.13822A>T (p.Thr4608Ser) c.13777A>T (p.Thr4593Ser) c.13930A>T (p.Thr4644Ser) c.13510A>T (p.Thr4504Ser) c.12835A>T (p.Thr4279Ser) c.9019A>T (p.Thr3007Ser) c.8572A>T (p.Thr2858Ser) c.7909A>T (p.Thr2637Ser) c.12424A>T (p.Thr4142Ser) | |
| 5 | g.13692037T>C | CA359188587 | DNAH5 | n.1155A>G c.13822A>G (p.Thr4608Ala) c.13777A>G (p.Thr4593Ala) c.13930A>G (p.Thr4644Ala) c.13510A>G (p.Thr4504Ala) c.12835A>G (p.Thr4279Ala) c.9019A>G (p.Thr3007Ala) c.8572A>G (p.Thr2858Ala) c.7909A>G (p.Thr2637Ala) c.12424A>G (p.Thr4142Ala) | |
| 5 | g.13692037T>G | CA359188588 | DNAH5 | n.1155A>C c.13822A>C (p.Thr4608Pro) c.13777A>C (p.Thr4593Pro) c.13930A>C (p.Thr4644Pro) c.13510A>C (p.Thr4504Pro) c.12835A>C (p.Thr4279Pro) c.9019A>C (p.Thr3007Pro) c.8572A>C (p.Thr2858Pro) c.7909A>C (p.Thr2637Pro) c.12424A>C (p.Thr4142Pro) | |
| 5 | g.13692038C>A | CA359188589 | DNAH5 | n.1154G>T c.13821G>T (p.Gln4607His) c.13776G>T (p.Gln4592His) c.13929G>T (p.Gln4643His) c.13509G>T (p.Gln4503His) c.12834G>T (p.Gln4278His) c.9018G>T (p.Gln3006His) c.8571G>T (p.Gln2857His) c.7908G>T (p.Gln2636His) c.12423G>T (p.Gln4141His) | gnomAD v4 |
| 5 | g.13692038C>G | CA359188590 | DNAH5 | n.1154G>C c.13821G>C (p.Gln4607His) c.13776G>C (p.Gln4592His) c.13929G>C (p.Gln4643His) c.13509G>C (p.Gln4503His) c.12834G>C (p.Gln4278His) c.9018G>C (p.Gln3006His) c.8571G>C (p.Gln2857His) c.7908G>C (p.Gln2636His) c.12423G>C (p.Gln4141His) | |
| 5 | g.13692038C>T | CA443248660 | DNAH5 | n.1154G>A c.13821G>A (p.Gln4607=) c.13776G>A (p.Gln4592=) c.13929G>A (p.Gln4643=) c.13509G>A (p.Gln4503=) c.12834G>A (p.Gln4278=) c.9018G>A (p.Gln3006=) c.8571G>A (p.Gln2857=) c.7908G>A (p.Gln2636=) c.12423G>A (p.Gln4141=) | |
| 5 | g.13692039T>A | CA359188591 | DNAH5 | n.1153A>T c.13820A>T (p.Gln4607Leu) c.13775A>T (p.Gln4592Leu) c.13928A>T (p.Gln4643Leu) c.13508A>T (p.Gln4503Leu) c.12833A>T (p.Gln4278Leu) c.9017A>T (p.Gln3006Leu) c.8570A>T (p.Gln2857Leu) c.7907A>T (p.Gln2636Leu) c.12422A>T (p.Gln4141Leu) | |
| 5 | g.13692039T>C | CA359188593 | DNAH5 | n.1153A>G c.13820A>G (p.Gln4607Arg) c.13775A>G (p.Gln4592Arg) c.13928A>G (p.Gln4643Arg) c.13508A>G (p.Gln4503Arg) c.12833A>G (p.Gln4278Arg) c.9017A>G (p.Gln3006Arg) c.8570A>G (p.Gln2857Arg) c.7907A>G (p.Gln2636Arg) c.12422A>G (p.Gln4141Arg) | |
| 5 | g.13692039T>G | CA359188592 | DNAH5 | n.1153A>C c.13820A>C (p.Gln4607Pro) c.13775A>C (p.Gln4592Pro) c.13928A>C (p.Gln4643Pro) c.13508A>C (p.Gln4503Pro) c.12833A>C (p.Gln4278Pro) c.9017A>C (p.Gln3006Pro) c.8570A>C (p.Gln2857Pro) c.7907A>C (p.Gln2636Pro) c.12422A>C (p.Gln4141Pro) | |
| 5 | g.13692040G>A | CA359188594 | DNAH5 | n.1152C>T c.13819C>T (p.Gln4607Ter) c.13774C>T (p.Gln4592Ter) c.13927C>T (p.Gln4643Ter) c.13507C>T (p.Gln4503Ter) c.12832C>T (p.Gln4278Ter) c.9016C>T (p.Gln3006Ter) c.8569C>T (p.Gln2857Ter) c.7906C>T (p.Gln2636Ter) c.12421C>T (p.Gln4141Ter) | |
| 5 | g.13692040G>C | CA359188595 | DNAH5 | n.1152C>G c.13819C>G (p.Gln4607Glu) c.13774C>G (p.Gln4592Glu) c.13927C>G (p.Gln4643Glu) c.13507C>G (p.Gln4503Glu) c.12832C>G (p.Gln4278Glu) c.9016C>G (p.Gln3006Glu) c.8569C>G (p.Gln2857Glu) c.7906C>G (p.Gln2636Glu) c.12421C>G (p.Gln4141Glu) | |
| 5 | g.13692040G>T | CA359188596 | DNAH5 | n.1152C>A c.13819C>A (p.Gln4607Lys) c.13774C>A (p.Gln4592Lys) c.13927C>A (p.Gln4643Lys) c.13507C>A (p.Gln4503Lys) c.12832C>A (p.Gln4278Lys) c.9016C>A (p.Gln3006Lys) c.8569C>A (p.Gln2857Lys) c.7906C>A (p.Gln2636Lys) c.12421C>A (p.Gln4141Lys) | |
| 5 | g.13692041G>A | CA443248661 | DNAH5 | n.1151C>T c.13818C>T (p.Ala4606=) c.13773C>T (p.Ala4591=) c.13926C>T (p.Ala4642=) c.13506C>T (p.Ala4502=) c.12831C>T (p.Ala4277=) c.9015C>T (p.Ala3005=) c.8568C>T (p.Ala2856=) c.7905C>T (p.Ala2635=) c.12420C>T (p.Ala4140=) | |
| 5 | g.13692041G>C | CA443248663 | DNAH5 | n.1151C>G c.13818C>G (p.Ala4606=) c.13773C>G (p.Ala4591=) c.13926C>G (p.Ala4642=) c.13506C>G (p.Ala4502=) c.12831C>G (p.Ala4277=) c.9015C>G (p.Ala3005=) c.8568C>G (p.Ala2856=) c.7905C>G (p.Ala2635=) c.12420C>G (p.Ala4140=) | |
| 5 | g.13692041G>T | CA443248664 | DNAH5 | n.1151C>A c.13818C>A (p.Ala4606=) c.13773C>A (p.Ala4591=) c.13926C>A (p.Ala4642=) c.13506C>A (p.Ala4502=) c.12831C>A (p.Ala4277=) c.9015C>A (p.Ala3005=) c.8568C>A (p.Ala2856=) c.7905C>A (p.Ala2635=) c.12420C>A (p.Ala4140=) | |
| 5 | g.13692042G>A | CA3201234 | DNAH5 | n.1150C>T c.13817C>T (p.Ala4606Val) c.13772C>T (p.Ala4591Val) c.13925C>T (p.Ala4642Val) c.13505C>T (p.Ala4502Val) c.12830C>T (p.Ala4277Val) c.9014C>T (p.Ala3005Val) c.8567C>T (p.Ala2856Val) c.7904C>T (p.Ala2635Val) c.12419C>T (p.Ala4140Val) | dbSNP ExAC gnomAD v2 |
| 5 | g.13692042G>C | CA359188597 | DNAH5 | n.1150C>G c.13817C>G (p.Ala4606Gly) c.13772C>G (p.Ala4591Gly) c.13925C>G (p.Ala4642Gly) c.13505C>G (p.Ala4502Gly) c.12830C>G (p.Ala4277Gly) c.9014C>G (p.Ala3005Gly) c.8567C>G (p.Ala2856Gly) c.7904C>G (p.Ala2635Gly) c.12419C>G (p.Ala4140Gly) | |
| 5 | g.13692042G= | CA1528395855 | DNAH5 | n.1150C= c.13817C= (p.Ala4606=) c.13772C= (p.Ala4591=) c.13925C= (p.Ala4642=) c.13505C= (p.Ala4502=) c.12830C= (p.Ala4277=) c.9014C= (p.Ala3005=) c.8567C= (p.Ala2856=) c.7904C= (p.Ala2635=) c.12419C= (p.Ala4140=) | |
| 5 | g.13692042G>T | CA3201233 | DNAH5 | n.1150C>A c.13817C>A (p.Ala4606Asp) c.13772C>A (p.Ala4591Asp) c.13925C>A (p.Ala4642Asp) c.13505C>A (p.Ala4502Asp) c.12830C>A (p.Ala4277Asp) c.9014C>A (p.Ala3005Asp) c.8567C>A (p.Ala2856Asp) c.7904C>A (p.Ala2635Asp) c.12419C>A (p.Ala4140Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |