Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13866209_13866213del | CA2673276078 | DNAH5 | c.4116+7_4116+11del (n.4116+7_4116+11del) c.4071+7_4071+11del (n.4071+7_4071+11del) n.4323+7_4323+11del c.4224+7_4224+11del (n.4224+7_4224+11del) c.3129+7_3129+11del (n.3129+7_3129+11del) c.2718+7_2718+11del (n.2718+7_2718+11del) n.4241+7_4241+11del | gnomAD v4 |
5 | g.13866213A>C | CA2697547068 | DNAH5 | c.4116+7T>G (n.4116+7T>G) c.4071+7T>G (n.4071+7T>G) n.4323+7T>G c.4224+7T>G (n.4224+7T>G) c.3129+7T>G (n.3129+7T>G) c.2718+7T>G (n.2718+7T>G) n.4241+7T>G | ClinVar |
5 | g.13866213A>T | CA2673276080 | DNAH5 | c.4116+7T>A (n.4116+7T>A) c.4071+7T>A (n.4071+7T>A) n.4323+7T>A c.4224+7T>A (n.4224+7T>A) c.3129+7T>A (n.3129+7T>A) c.2718+7T>A (n.2718+7T>A) n.4241+7T>A | gnomAD v4 |
5 | g.13866215_13866216delinsAT | CA1528476210 | DNAH5 | c.4116+4_4116+5delinsAT (n.4116+4_4116+5delinsAT) c.4071+4_4071+5delinsAT (n.4071+4_4071+5delinsAT) n.4323+4_4323+5delinsAT c.4224+4_4224+5delinsAT (n.4224+4_4224+5delinsAT) c.3129+4_3129+5delinsAT (n.3129+4_3129+5delinsAT) c.2718+4_2718+5delinsAT (n.2718+4_2718+5delinsAT) n.4241+4_4241+5delinsAT | |
5 | g.13866216T>C | CA2673276081 | DNAH5 | c.4116+4A>G (n.4116+4A>G) c.4071+4A>G (n.4071+4A>G) n.4323+4A>G c.4224+4A>G (n.4224+4A>G) c.3129+4A>G (n.3129+4A>G) c.2718+4A>G (n.2718+4A>G) n.4241+4A>G | gnomAD v4 |
5 | g.13866217dup | CA557873629 | DNAH5 | c.4116+4dup (n.4116+4dup) c.4071+4dup (n.4071+4dup) n.4323+4dup c.4224+4dup (n.4224+4dup) c.3129+4dup (n.3129+4dup) c.2718+4dup (n.2718+4dup) n.4241+4dup | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866217del | CA1528476212 | DNAH5 | c.4116+4del (n.4116+4del) c.4071+4del (n.4071+4del) n.4323+4del c.4224+4del (n.4224+4del) c.3129+4del (n.3129+4del) c.2718+4del (n.2718+4del) n.4241+4del | dbSNP |
5 | g.13866217T>C | CA3204075 | DNAH5 | c.4116+3A>G (n.4116+3A>G) c.4071+3A>G (n.4071+3A>G) n.4323+3A>G c.4224+3A>G (n.4224+3A>G) c.3129+3A>G (n.3129+3A>G) c.2718+3A>G (n.2718+3A>G) n.4241+3A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866217T= | CA1528476216 | DNAH5 | c.4116+3A= (n.4116+3A=) c.4071+3A= (n.4071+3A=) n.4323+3A= c.4224+3A= (n.4224+3A=) c.3129+3A= (n.3129+3A=) c.2718+3A= (n.2718+3A=) n.4241+3A= | |
5 | g.13866218A= | CA1528476221 | DNAH5 | c.4116+2T= (n.4116+2T=) c.4071+2T= (n.4071+2T=) n.4323+2T= c.4224+2T= (n.4224+2T=) c.3129+2T= (n.3129+2T=) c.2718+2T= (n.2718+2T=) n.4241+2T= | |
5 | g.13866218A>C | CA359226047 | DNAH5 | c.4116+2T>G (n.4116+2T>G) c.4071+2T>G (n.4071+2T>G) n.4323+2T>G c.4224+2T>G (n.4224+2T>G) c.3129+2T>G (n.3129+2T>G) c.2718+2T>G (n.2718+2T>G) n.4241+2T>G | dbSNP |
5 | g.13866218A>G | CA359226052 | DNAH5 | c.4116+2T>C (n.4116+2T>C) c.4071+2T>C (n.4071+2T>C) n.4323+2T>C c.4224+2T>C (n.4224+2T>C) c.3129+2T>C (n.3129+2T>C) c.2718+2T>C (n.2718+2T>C) n.4241+2T>C | |
5 | g.13866218A>T | CA359226057 | DNAH5 | c.4116+2T>A (n.4116+2T>A) c.4071+2T>A (n.4071+2T>A) n.4323+2T>A c.4224+2T>A (n.4224+2T>A) c.3129+2T>A (n.3129+2T>A) c.2718+2T>A (n.2718+2T>A) n.4241+2T>A | |
5 | g.13866219C>A | CA359226066 | DNAH5 | c.4116+1G>T (n.4116+1G>T) c.4071+1G>T (n.4071+1G>T) n.4323+1G>T c.4224+1G>T (n.4224+1G>T) c.3129+1G>T (n.3129+1G>T) c.2718+1G>T (n.2718+1G>T) n.4241+1G>T | |
5 | g.13866219C>G | CA359226067 | DNAH5 | c.4116+1G>C (n.4116+1G>C) c.4071+1G>C (n.4071+1G>C) n.4323+1G>C c.4224+1G>C (n.4224+1G>C) c.3129+1G>C (n.3129+1G>C) c.2718+1G>C (n.2718+1G>C) n.4241+1G>C | |
5 | g.13866219C>T | CA359226071 | DNAH5 | c.4116+1G>A (n.4116+1G>A) c.4071+1G>A (n.4071+1G>A) n.4323+1G>A c.4224+1G>A (n.4224+1G>A) c.3129+1G>A (n.3129+1G>A) c.2718+1G>A (n.2718+1G>A) n.4241+1G>A | gnomAD v4 |
5 | g.13866220C>A | CA359226073 | DNAH5 | c.4116G>T (p.Gln1372His) c.4071G>T (p.Gln1357His) n.4323G>T c.4224G>T (p.Gln1408His) c.3129G>T (p.Gln1043His) c.2718G>T (p.Gln906His) n.4241G>T | |
5 | g.13866220C= | CA1528476225 | DNAH5 | c.4116G= (p.Gln1372=) c.4071G= (p.Gln1357=) n.4323G= c.4224G= (p.Gln1408=) c.3129G= (p.Gln1043=) c.2718G= (p.Gln906=) n.4241G= | |
5 | g.13866220C>G | CA3204076 | DNAH5 | c.4116G>C (p.Gln1372His) c.4071G>C (p.Gln1357His) n.4323G>C c.4224G>C (p.Gln1408His) c.3129G>C (p.Gln1043His) c.2718G>C (p.Gln906His) n.4241G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866220C>T | CA443263280 | DNAH5 | c.4116G>A (p.Gln1372=) c.4071G>A (p.Gln1357=) n.4323G>A c.4224G>A (p.Gln1408=) c.3129G>A (p.Gln1043=) c.2718G>A (p.Gln906=) n.4241G>A | |
5 | g.13866221T>A | CA359226076 | DNAH5 | c.4115A>T (p.Gln1372Leu) c.4070A>T (p.Gln1357Leu) n.4322A>T c.4223A>T (p.Gln1408Leu) c.3128A>T (p.Gln1043Leu) c.2717A>T (p.Gln906Leu) n.4240A>T | |
5 | g.13866221T>C | CA359226079 | DNAH5 | c.4115A>G (p.Gln1372Arg) c.4070A>G (p.Gln1357Arg) n.4322A>G c.4223A>G (p.Gln1408Arg) c.3128A>G (p.Gln1043Arg) c.2717A>G (p.Gln906Arg) n.4240A>G | |
5 | g.13866221T>G | CA3204077 | DNAH5 | c.4115A>C (p.Gln1372Pro) c.4070A>C (p.Gln1357Pro) n.4322A>C c.4223A>C (p.Gln1408Pro) c.3128A>C (p.Gln1043Pro) c.2717A>C (p.Gln906Pro) n.4240A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866221T= | CA1528476234 | DNAH5 | c.4115A= (p.Gln1372=) c.4070A= (p.Gln1357=) n.4322A= c.4223A= (p.Gln1408=) c.3128A= (p.Gln1043=) c.2717A= (p.Gln906=) n.4240A= | |
5 | g.13866222G>A | CA359226106 | DNAH5 | c.4114C>T (p.Gln1372Ter) c.4069C>T (p.Gln1357Ter) n.4321C>T c.4222C>T (p.Gln1408Ter) c.3127C>T (p.Gln1043Ter) c.2716C>T (p.Gln906Ter) n.4239C>T | |
5 | g.13866222G>C | CA359226091 | DNAH5 | c.4114C>G (p.Gln1372Glu) c.4069C>G (p.Gln1357Glu) n.4321C>G c.4222C>G (p.Gln1408Glu) c.3127C>G (p.Gln1043Glu) c.2716C>G (p.Gln906Glu) n.4239C>G | |
5 | g.13866222G>T | CA359226096 | DNAH5 | c.4114C>A (p.Gln1372Lys) c.4069C>A (p.Gln1357Lys) n.4321C>A c.4222C>A (p.Gln1408Lys) c.3127C>A (p.Gln1043Lys) c.2716C>A (p.Gln906Lys) n.4239C>A | |
5 | g.13866222_13866223delinsGA | CA1528476238 | DNAH5 | c.4113_4114delinsTC (p.Phe1371=) c.4068_4069delinsTC (p.Phe1356=) n.4320_4321delinsTC c.4221_4222delinsTC (p.Phe1407=) c.3126_3127delinsTC (p.Phe1042=) c.2715_2716delinsTC (p.Phe905=) n.4238_4239delinsTC | |
5 | g.13866223A= | CA1528476249 | DNAH5 | c.4113T= (p.Phe1371=) c.4068T= (p.Phe1356=) n.4320T= c.4221T= (p.Phe1407=) c.3126T= (p.Phe1042=) c.2715T= (p.Phe905=) n.4238T= | |
5 | g.13866223A>C | CA359226110 | DNAH5 | c.4113T>G (p.Phe1371Leu) c.4068T>G (p.Phe1356Leu) n.4320T>G c.4221T>G (p.Phe1407Leu) c.3126T>G (p.Phe1042Leu) c.2715T>G (p.Phe905Leu) n.4238T>G | ClinVar dbSNP gnomAD v4 |
5 | g.13866223A>G | CA443263281 | DNAH5 | c.4113T>C (p.Phe1371=) c.4068T>C (p.Phe1356=) n.4320T>C c.4221T>C (p.Phe1407=) c.3126T>C (p.Phe1042=) c.2715T>C (p.Phe905=) n.4238T>C | |
5 | g.13866223A>T | CA359226111 | DNAH5 | c.4113T>A (p.Phe1371Leu) c.4068T>A (p.Phe1356Leu) n.4320T>A c.4221T>A (p.Phe1407Leu) c.3126T>A (p.Phe1042Leu) c.2715T>A (p.Phe905Leu) n.4238T>A | |
5 | g.13866225del | CA916082689 | DNAH5 | c.4113del (p.Gln1372ArgfsTer?) c.4068del (p.Gln1357ArgfsTer?) n.4320del c.4221del (p.Gln1408ArgfsTer?) c.3126del (p.Gln1043ArgfsTer?) c.2715del (p.Gln906ArgfsTer?) n.4238del | ClinVar dbSNP |
5 | g.13866224A>C | CA359226112 | DNAH5 | c.4112T>G (p.Phe1371Cys) c.4067T>G (p.Phe1356Cys) n.4319T>G c.4220T>G (p.Phe1407Cys) c.3125T>G (p.Phe1042Cys) c.2714T>G (p.Phe905Cys) n.4237T>G | |
5 | g.13866224A>G | CA359226115 | DNAH5 | c.4112T>C (p.Phe1371Ser) c.4067T>C (p.Phe1356Ser) n.4319T>C c.4220T>C (p.Phe1407Ser) c.3125T>C (p.Phe1042Ser) c.2714T>C (p.Phe905Ser) n.4237T>C | |
5 | g.13866224A>T | CA359226127 | DNAH5 | c.4112T>A (p.Phe1371Tyr) c.4067T>A (p.Phe1356Tyr) n.4319T>A c.4220T>A (p.Phe1407Tyr) c.3125T>A (p.Phe1042Tyr) c.2714T>A (p.Phe905Tyr) n.4237T>A | |
5 | g.13866225A>C | CA359226128 | DNAH5 | c.4111T>G (p.Phe1371Val) c.4066T>G (p.Phe1356Val) n.4318T>G c.4219T>G (p.Phe1407Val) c.3124T>G (p.Phe1042Val) c.2713T>G (p.Phe905Val) n.4236T>G | |
5 | g.13866225A>G | CA359226131 | DNAH5 | c.4111T>C (p.Phe1371Leu) c.4066T>C (p.Phe1356Leu) n.4318T>C c.4219T>C (p.Phe1407Leu) c.3124T>C (p.Phe1042Leu) c.2713T>C (p.Phe905Leu) n.4236T>C | gnomAD v4 |
5 | g.13866225A>T | CA359226133 | DNAH5 | c.4111T>A (p.Phe1371Ile) c.4066T>A (p.Phe1356Ile) n.4318T>A c.4219T>A (p.Phe1407Ile) c.3124T>A (p.Phe1042Ile) c.2713T>A (p.Phe905Ile) n.4236T>A | |
5 | g.13866225_13866234del | CA2580072134 | DNAH5 | c.4102_4111del (p.Leu1368PhefsTer?) c.4057_4066del (p.Leu1353PhefsTer?) n.4309_4318del c.4210_4219del (p.Leu1404PhefsTer?) c.3115_3124del (p.Leu1039PhefsTer?) c.2704_2713del (p.Leu902PhefsTer?) n.4227_4236del | ClinVar |
5 | g.13866226C>A | CA359226137 | DNAH5 | c.4110G>T (p.Met1370Ile) c.4065G>T (p.Met1355Ile) n.4317G>T c.4218G>T (p.Met1406Ile) c.3123G>T (p.Met1041Ile) c.2712G>T (p.Met904Ile) n.4235G>T | |
5 | g.13866226C= | CA1528476253 | DNAH5 | c.4110G= (p.Met1370=) c.4065G= (p.Met1355=) n.4317G= c.4218G= (p.Met1406=) c.3123G= (p.Met1041=) c.2712G= (p.Met904=) n.4235G= | |
5 | g.13866226C>G | CA359226139 | DNAH5 | c.4110G>C (p.Met1370Ile) c.4065G>C (p.Met1355Ile) n.4317G>C c.4218G>C (p.Met1406Ile) c.3123G>C (p.Met1041Ile) c.2712G>C (p.Met904Ile) n.4235G>C | |
5 | g.13866226C>T | CA359226142 | DNAH5 | c.4110G>A (p.Met1370Ile) c.4065G>A (p.Met1355Ile) n.4317G>A c.4218G>A (p.Met1406Ile) c.3123G>A (p.Met1041Ile) c.2712G>A (p.Met904Ile) n.4235G>A | dbSNP gnomAD v4 |
5 | g.13866227A>C | CA359226145 | DNAH5 | c.4109T>G (p.Met1370Arg) c.4064T>G (p.Met1355Arg) n.4316T>G c.4217T>G (p.Met1406Arg) c.3122T>G (p.Met1041Arg) c.2711T>G (p.Met904Arg) n.4234T>G | |
5 | g.13866227A>G | CA359226144 | DNAH5 | c.4109T>C (p.Met1370Thr) c.4064T>C (p.Met1355Thr) n.4316T>C c.4217T>C (p.Met1406Thr) c.3122T>C (p.Met1041Thr) c.2711T>C (p.Met904Thr) n.4234T>C | |
5 | g.13866227A>T | CA359226143 | DNAH5 | c.4109T>A (p.Met1370Lys) c.4064T>A (p.Met1355Lys) n.4316T>A c.4217T>A (p.Met1406Lys) c.3122T>A (p.Met1041Lys) c.2711T>A (p.Met904Lys) n.4234T>A | gnomAD v4 |
5 | g.13866228T>A | CA359226146 | DNAH5 | c.4108A>T (p.Met1370Leu) c.4063A>T (p.Met1355Leu) n.4315A>T c.4216A>T (p.Met1406Leu) c.3121A>T (p.Met1041Leu) c.2710A>T (p.Met904Leu) n.4233A>T | ClinVar gnomAD v4 |
5 | g.13866228T>C | CA359226147 | DNAH5 | c.4108A>G (p.Met1370Val) c.4063A>G (p.Met1355Val) n.4315A>G c.4216A>G (p.Met1406Val) c.3121A>G (p.Met1041Val) c.2710A>G (p.Met904Val) n.4233A>G | ClinVar gnomAD v4 |
5 | g.13866228T>G | CA359226149 | DNAH5 | c.4108A>C (p.Met1370Leu) c.4063A>C (p.Met1355Leu) n.4315A>C c.4216A>C (p.Met1406Leu) c.3121A>C (p.Met1041Leu) c.2710A>C (p.Met904Leu) n.4233A>C | |
5 | g.13866229G>A | CA443263285 | DNAH5 | c.4107C>T (p.Ile1369=) c.4062C>T (p.Ile1354=) n.4314C>T c.4215C>T (p.Ile1405=) c.3120C>T (p.Ile1040=) c.2709C>T (p.Ile903=) n.4232C>T | |
5 | g.13866229G>C | CA359226151 | DNAH5 | c.4107C>G (p.Ile1369Met) c.4062C>G (p.Ile1354Met) n.4314C>G c.4215C>G (p.Ile1405Met) c.3120C>G (p.Ile1040Met) c.2709C>G (p.Ile903Met) n.4232C>G | |
5 | g.13866229G= | CA1528476259 | DNAH5 | c.4107C= (p.Ile1369=) c.4062C= (p.Ile1354=) n.4314C= c.4215C= (p.Ile1405=) c.3120C= (p.Ile1040=) c.2709C= (p.Ile903=) n.4232C= | |
5 | g.13866229G>T | CA443263286 | DNAH5 | c.4107C>A (p.Ile1369=) c.4062C>A (p.Ile1354=) n.4314C>A c.4215C>A (p.Ile1405=) c.3120C>A (p.Ile1040=) c.2709C>A (p.Ile903=) n.4232C>A | dbSNP |
5 | g.13866230A= | CA1528476262 | DNAH5 | c.4106T= (p.Ile1369=) c.4061T= (p.Ile1354=) n.4313T= c.4214T= (p.Ile1405=) c.3119T= (p.Ile1040=) c.2708T= (p.Ile903=) n.4231T= | |
5 | g.13866230A>C | CA359226153 | DNAH5 | c.4106T>G (p.Ile1369Ser) c.4061T>G (p.Ile1354Ser) n.4313T>G c.4214T>G (p.Ile1405Ser) c.3119T>G (p.Ile1040Ser) c.2708T>G (p.Ile903Ser) n.4231T>G | |
5 | g.13866230A>G | CA359226156 | DNAH5 | c.4106T>C (p.Ile1369Thr) c.4061T>C (p.Ile1354Thr) n.4313T>C c.4214T>C (p.Ile1405Thr) c.3119T>C (p.Ile1040Thr) c.2708T>C (p.Ile903Thr) n.4231T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866230A>T | CA359226161 | DNAH5 | c.4106T>A (p.Ile1369Asn) c.4061T>A (p.Ile1354Asn) n.4313T>A c.4214T>A (p.Ile1405Asn) c.3119T>A (p.Ile1040Asn) c.2708T>A (p.Ile903Asn) n.4231T>A | |
5 | g.13866231T>A | CA359226170 | DNAH5 | c.4105A>T (p.Ile1369Phe) c.4060A>T (p.Ile1354Phe) n.4312A>T c.4213A>T (p.Ile1405Phe) c.3118A>T (p.Ile1040Phe) c.2707A>T (p.Ile903Phe) n.4230A>T | dbSNP gnomAD v4 |
5 | g.13866231T>C | CA359226186 | DNAH5 | c.4105A>G (p.Ile1369Val) c.4060A>G (p.Ile1354Val) n.4312A>G c.4213A>G (p.Ile1405Val) c.3118A>G (p.Ile1040Val) c.2707A>G (p.Ile903Val) n.4230A>G | |
5 | g.13866231T>G | CA359226184 | DNAH5 | c.4105A>C (p.Ile1369Leu) c.4060A>C (p.Ile1354Leu) n.4312A>C c.4213A>C (p.Ile1405Leu) c.3118A>C (p.Ile1040Leu) c.2707A>C (p.Ile903Leu) n.4230A>C | |
5 | g.13866231T= | CA1528476265 | DNAH5 | c.4105A= (p.Ile1369=) c.4060A= (p.Ile1354=) n.4312A= c.4213A= (p.Ile1405=) c.3118A= (p.Ile1040=) c.2707A= (p.Ile903=) n.4230A= | |
5 | g.13866232A= | CA1528476267 | DNAH5 | c.4104T= (p.Leu1368=) c.4059T= (p.Leu1353=) n.4311T= c.4212T= (p.Leu1404=) c.3117T= (p.Leu1039=) c.2706T= (p.Leu902=) n.4229T= | |
5 | g.13866232A>C | CA443263287 | DNAH5 | c.4104T>G (p.Leu1368=) c.4059T>G (p.Leu1353=) n.4311T>G c.4212T>G (p.Leu1404=) c.3117T>G (p.Leu1039=) c.2706T>G (p.Leu902=) n.4229T>G | |
5 | g.13866232A>G | CA443263288 | DNAH5 | c.4104T>C (p.Leu1368=) c.4059T>C (p.Leu1353=) n.4311T>C c.4212T>C (p.Leu1404=) c.3117T>C (p.Leu1039=) c.2706T>C (p.Leu902=) n.4229T>C | ClinVar |
5 | g.13866232A>T | CA3204078 | DNAH5 | c.4104T>A (p.Leu1368=) c.4059T>A (p.Leu1353=) n.4311T>A c.4212T>A (p.Leu1404=) c.3117T>A (p.Leu1039=) c.2706T>A (p.Leu902=) n.4229T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866233A= | CA1528476269 | DNAH5 | c.4103T= (p.Leu1368=) c.4058T= (p.Leu1353=) n.4310T= c.4211T= (p.Leu1404=) c.3116T= (p.Leu1039=) c.2705T= (p.Leu902=) n.4228T= | |
5 | g.13866233A>C | CA3204079 | DNAH5 | c.4103T>G (p.Leu1368Arg) c.4058T>G (p.Leu1353Arg) n.4310T>G c.4211T>G (p.Leu1404Arg) c.3116T>G (p.Leu1039Arg) c.2705T>G (p.Leu902Arg) n.4228T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866233A>G | CA359226197 | DNAH5 | c.4103T>C (p.Leu1368Pro) c.4058T>C (p.Leu1353Pro) n.4310T>C c.4211T>C (p.Leu1404Pro) c.3116T>C (p.Leu1039Pro) c.2705T>C (p.Leu902Pro) n.4228T>C | |
5 | g.13866233A>T | CA359226199 | DNAH5 | c.4103T>A (p.Leu1368His) c.4058T>A (p.Leu1353His) n.4310T>A c.4211T>A (p.Leu1404His) c.3116T>A (p.Leu1039His) c.2705T>A (p.Leu902His) n.4228T>A | |
5 | g.13866234G>A | CA359226208 | DNAH5 | c.4102C>T (p.Leu1368Phe) c.4057C>T (p.Leu1353Phe) n.4309C>T c.4210C>T (p.Leu1404Phe) c.3115C>T (p.Leu1039Phe) c.2704C>T (p.Leu902Phe) n.4227C>T | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866234G>C | CA359226205 | DNAH5 | c.4102C>G (p.Leu1368Val) c.4057C>G (p.Leu1353Val) n.4309C>G c.4210C>G (p.Leu1404Val) c.3115C>G (p.Leu1039Val) c.2704C>G (p.Leu902Val) n.4227C>G | |
5 | g.13866234G= | CA1528476271 | DNAH5 | c.4102C= (p.Leu1368=) c.4057C= (p.Leu1353=) n.4309C= c.4210C= (p.Leu1404=) c.3115C= (p.Leu1039=) c.2704C= (p.Leu902=) n.4227C= | |
5 | g.13866234G>T | CA359226206 | DNAH5 | c.4102C>A (p.Leu1368Ile) c.4057C>A (p.Leu1353Ile) n.4309C>A c.4210C>A (p.Leu1404Ile) c.3115C>A (p.Leu1039Ile) c.2704C>A (p.Leu902Ile) n.4227C>A | |
5 | g.13866235C>A | CA359226212 | DNAH5 | c.4101G>T (p.Arg1367Ser) c.4056G>T (p.Arg1352Ser) n.4308G>T c.4209G>T (p.Arg1403Ser) c.3114G>T (p.Arg1038Ser) c.2703G>T (p.Arg901Ser) n.4226G>T | |
5 | g.13866235C= | CA1528476276 | DNAH5 | c.4101G= (p.Arg1367=) c.4056G= (p.Arg1352=) n.4308G= c.4209G= (p.Arg1403=) c.3114G= (p.Arg1038=) c.2703G= (p.Arg901=) n.4226G= | |
5 | g.13866235C>G | CA359226216 | DNAH5 | c.4101G>C (p.Arg1367Ser) c.4056G>C (p.Arg1352Ser) n.4308G>C c.4209G>C (p.Arg1403Ser) c.3114G>C (p.Arg1038Ser) c.2703G>C (p.Arg901Ser) n.4226G>C | |
5 | g.13866235C>T | CA3204080 | DNAH5 | c.4101G>A (p.Arg1367=) c.4056G>A (p.Arg1352=) n.4308G>A c.4209G>A (p.Arg1403=) c.3114G>A (p.Arg1038=) c.2703G>A (p.Arg901=) n.4226G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866236C>A | CA359226217 | DNAH5 | c.4100G>T (p.Arg1367Met) c.4055G>T (p.Arg1352Met) n.4307G>T c.4208G>T (p.Arg1403Met) c.3113G>T (p.Arg1038Met) c.2702G>T (p.Arg901Met) n.4225G>T | |
5 | g.13866236C= | CA1528476281 | DNAH5 | c.4100G= (p.Arg1367=) c.4055G= (p.Arg1352=) n.4307G= c.4208G= (p.Arg1403=) c.3113G= (p.Arg1038=) c.2702G= (p.Arg901=) n.4225G= | |
5 | g.13866236C>G | CA359226218 | DNAH5 | c.4100G>C (p.Arg1367Thr) c.4055G>C (p.Arg1352Thr) n.4307G>C c.4208G>C (p.Arg1403Thr) c.3113G>C (p.Arg1038Thr) c.2702G>C (p.Arg901Thr) n.4225G>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13866236C>T | CA359226219 | DNAH5 | c.4100G>A (p.Arg1367Lys) c.4055G>A (p.Arg1352Lys) n.4307G>A c.4208G>A (p.Arg1403Lys) c.3113G>A (p.Arg1038Lys) c.2702G>A (p.Arg901Lys) n.4225G>A | |
5 | g.13866237T>A | CA359226220 | DNAH5 | c.4099A>T (p.Arg1367Trp) c.4054A>T (p.Arg1352Trp) n.4306A>T c.4207A>T (p.Arg1403Trp) c.3112A>T (p.Arg1038Trp) c.2701A>T (p.Arg901Trp) n.4224A>T | |
5 | g.13866237T>C | CA359226222 | DNAH5 | c.4099A>G (p.Arg1367Gly) c.4054A>G (p.Arg1352Gly) n.4306A>G c.4207A>G (p.Arg1403Gly) c.3112A>G (p.Arg1038Gly) c.2701A>G (p.Arg901Gly) n.4224A>G | gnomAD v4 |
5 | g.13866237T>G | CA443263289 | DNAH5 | c.4099A>C (p.Arg1367=) c.4054A>C (p.Arg1352=) n.4306A>C c.4207A>C (p.Arg1403=) c.3112A>C (p.Arg1038=) c.2701A>C (p.Arg901=) n.4224A>C | |
5 | g.13866238G>A | CA443263290 | DNAH5 | c.4098C>T (p.Asp1366=) c.4053C>T (p.Asp1351=) n.4305C>T c.4206C>T (p.Asp1402=) c.3111C>T (p.Asp1037=) c.2700C>T (p.Asp900=) n.4223C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866238G>C | CA359226228 | DNAH5 | c.4098C>G (p.Asp1366Glu) c.4053C>G (p.Asp1351Glu) n.4305C>G c.4206C>G (p.Asp1402Glu) c.3111C>G (p.Asp1037Glu) c.2700C>G (p.Asp900Glu) n.4223C>G | gnomAD v4 |
5 | g.13866238G= | CA1528476284 | DNAH5 | c.4098C= (p.Asp1366=) c.4053C= (p.Asp1351=) n.4305C= c.4206C= (p.Asp1402=) c.3111C= (p.Asp1037=) c.2700C= (p.Asp900=) n.4223C= | |
5 | g.13866238G>T | CA359226233 | DNAH5 | c.4098C>A (p.Asp1366Glu) c.4053C>A (p.Asp1351Glu) n.4305C>A c.4206C>A (p.Asp1402Glu) c.3111C>A (p.Asp1037Glu) c.2700C>A (p.Asp900Glu) n.4223C>A | |
5 | g.13866239T>A | CA359226240 | DNAH5 | c.4097A>T (p.Asp1366Val) c.4052A>T (p.Asp1351Val) n.4304A>T c.4205A>T (p.Asp1402Val) c.3110A>T (p.Asp1037Val) c.2699A>T (p.Asp900Val) n.4222A>T | |
5 | g.13866239T>C | CA359226252 | DNAH5 | c.4097A>G (p.Asp1366Gly) c.4052A>G (p.Asp1351Gly) n.4304A>G c.4205A>G (p.Asp1402Gly) c.3110A>G (p.Asp1037Gly) c.2699A>G (p.Asp900Gly) n.4222A>G | gnomAD v4 |
5 | g.13866239T>G | CA359226258 | DNAH5 | c.4097A>C (p.Asp1366Ala) c.4052A>C (p.Asp1351Ala) n.4304A>C c.4205A>C (p.Asp1402Ala) c.3110A>C (p.Asp1037Ala) c.2699A>C (p.Asp900Ala) n.4222A>C | |
5 | g.13866240C>A | CA359226261 | DNAH5 | c.4096G>T (p.Asp1366Tyr) c.4051G>T (p.Asp1351Tyr) n.4303G>T c.4204G>T (p.Asp1402Tyr) c.3109G>T (p.Asp1037Tyr) c.2698G>T (p.Asp900Tyr) n.4221G>T | |
5 | g.13866240C= | CA1528476289 | DNAH5 | c.4096G= (p.Asp1366=) c.4051G= (p.Asp1351=) n.4303G= c.4204G= (p.Asp1402=) c.3109G= (p.Asp1037=) c.2698G= (p.Asp900=) n.4221G= | |
5 | g.13866240C>G | CA113977166 | DNAH5 | c.4096G>C (p.Asp1366His) c.4051G>C (p.Asp1351His) n.4303G>C c.4204G>C (p.Asp1402His) c.3109G>C (p.Asp1037His) c.2698G>C (p.Asp900His) n.4221G>C | dbSNP |
5 | g.13866240C>T | CA359226265 | DNAH5 | c.4096G>A (p.Asp1366Asn) c.4051G>A (p.Asp1351Asn) n.4303G>A c.4204G>A (p.Asp1402Asn) c.3109G>A (p.Asp1037Asn) c.2698G>A (p.Asp900Asn) n.4221G>A | |
5 | g.13866241A>C | CA359226271 | DNAH5 | c.4095T>G (p.Ser1365Arg) c.4050T>G (p.Ser1350Arg) n.4302T>G c.4203T>G (p.Ser1401Arg) c.3108T>G (p.Ser1036Arg) c.2697T>G (p.Ser899Arg) n.4220T>G | |
5 | g.13866241A>G | CA443263292 | DNAH5 | c.4095T>C (p.Ser1365=) c.4050T>C (p.Ser1350=) n.4302T>C c.4203T>C (p.Ser1401=) c.3108T>C (p.Ser1036=) c.2697T>C (p.Ser899=) n.4220T>C | |
5 | g.13866241A>T | CA359226276 | DNAH5 | c.4095T>A (p.Ser1365Arg) c.4050T>A (p.Ser1350Arg) n.4302T>A c.4203T>A (p.Ser1401Arg) c.3108T>A (p.Ser1036Arg) c.2697T>A (p.Ser899Arg) n.4220T>A | gnomAD v4 |
5 | g.13866241_13866242delinsAC | CA1528476292 | DNAH5 | c.4094_4095delinsGT (p.Ser1365=) c.4049_4050delinsGT (p.Ser1350=) n.4301_4302delinsGT c.4202_4203delinsGT (p.Ser1401=) c.3107_3108delinsGT (p.Ser1036=) c.2696_2697delinsGT (p.Ser899=) n.4219_4220delinsGT | |
5 | g.13866242del | CA16616739 | DNAH5 | c.4094del (p.Ser1365MetfsTer?) c.4049del (p.Ser1350MetfsTer?) n.4301del c.4202del (p.Ser1401MetfsTer?) c.3107del (p.Ser1036MetfsTer?) c.2696del (p.Ser899MetfsTer?) n.4219del | ClinVar dbSNP gnomAD v4 |
5 | g.13866242C>A | CA359226278 | DNAH5 | c.4094G>T (p.Ser1365Ile) c.4049G>T (p.Ser1350Ile) n.4301G>T c.4202G>T (p.Ser1401Ile) c.3107G>T (p.Ser1036Ile) c.2696G>T (p.Ser899Ile) n.4219G>T | |
5 | g.13866242C>G | CA359226285 | DNAH5 | c.4094G>C (p.Ser1365Thr) c.4049G>C (p.Ser1350Thr) n.4301G>C c.4202G>C (p.Ser1401Thr) c.3107G>C (p.Ser1036Thr) c.2696G>C (p.Ser899Thr) n.4219G>C | |
5 | g.13866242C>T | CA359226289 | DNAH5 | c.4094G>A (p.Ser1365Asn) c.4049G>A (p.Ser1350Asn) n.4301G>A c.4202G>A (p.Ser1401Asn) c.3107G>A (p.Ser1036Asn) c.2696G>A (p.Ser899Asn) n.4219G>A | gnomAD v4 |
5 | g.13866243T>A | CA359226294 | DNAH5 | c.4093A>T (p.Ser1365Cys) c.4048A>T (p.Ser1350Cys) n.4300A>T c.4201A>T (p.Ser1401Cys) c.3106A>T (p.Ser1036Cys) c.2695A>T (p.Ser899Cys) n.4218A>T | |
5 | g.13866243T>C | CA359226295 | DNAH5 | c.4093A>G (p.Ser1365Gly) c.4048A>G (p.Ser1350Gly) n.4300A>G c.4201A>G (p.Ser1401Gly) c.3106A>G (p.Ser1036Gly) c.2695A>G (p.Ser899Gly) n.4218A>G | |
5 | g.13866243T>G | CA359226296 | DNAH5 | c.4093A>C (p.Ser1365Arg) c.4048A>C (p.Ser1350Arg) n.4300A>C c.4201A>C (p.Ser1401Arg) c.3106A>C (p.Ser1036Arg) c.2695A>C (p.Ser899Arg) n.4218A>C | gnomAD v4 |
5 | g.13866244G>A | CA443263297 | DNAH5 | c.4092C>T (p.Ala1364=) c.4047C>T (p.Ala1349=) n.4299C>T c.4200C>T (p.Ala1400=) c.3105C>T (p.Ala1035=) c.2694C>T (p.Ala898=) n.4217C>T | |
5 | g.13866244G>C | CA443263295 | DNAH5 | c.4092C>G (p.Ala1364=) c.4047C>G (p.Ala1349=) n.4299C>G c.4200C>G (p.Ala1400=) c.3105C>G (p.Ala1035=) c.2694C>G (p.Ala898=) n.4217C>G | |
5 | g.13866244G>T | CA443263294 | DNAH5 | c.4092C>A (p.Ala1364=) c.4047C>A (p.Ala1349=) n.4299C>A c.4200C>A (p.Ala1400=) c.3105C>A (p.Ala1035=) c.2694C>A (p.Ala898=) n.4217C>A | |
5 | g.13866245G>A | CA359226297 | DNAH5 | c.4091C>T (p.Ala1364Val) c.4046C>T (p.Ala1349Val) n.4298C>T c.4199C>T (p.Ala1400Val) c.3104C>T (p.Ala1035Val) c.2693C>T (p.Ala898Val) n.4216C>T | |
5 | g.13866245G>C | CA359226298 | DNAH5 | c.4091C>G (p.Ala1364Gly) c.4046C>G (p.Ala1349Gly) n.4298C>G c.4199C>G (p.Ala1400Gly) c.3104C>G (p.Ala1035Gly) c.2693C>G (p.Ala898Gly) n.4216C>G | |
5 | g.13866245G>T | CA359226299 | DNAH5 | c.4091C>A (p.Ala1364Asp) c.4046C>A (p.Ala1349Asp) n.4298C>A c.4199C>A (p.Ala1400Asp) c.3104C>A (p.Ala1035Asp) c.2693C>A (p.Ala898Asp) n.4216C>A | |
5 | g.13866246C>A | CA359226300 | DNAH5 | c.4090G>T (p.Ala1364Ser) c.4045G>T (p.Ala1349Ser) n.4297G>T c.4198G>T (p.Ala1400Ser) c.3103G>T (p.Ala1035Ser) c.2692G>T (p.Ala898Ser) n.4215G>T | gnomAD v4 COSMIC |
5 | g.13866246C>G | CA359226301 | DNAH5 | c.4090G>C (p.Ala1364Pro) c.4045G>C (p.Ala1349Pro) n.4297G>C c.4198G>C (p.Ala1400Pro) c.3103G>C (p.Ala1035Pro) c.2692G>C (p.Ala898Pro) n.4215G>C | |
5 | g.13866246C>T | CA359226305 | DNAH5 | c.4090G>A (p.Ala1364Thr) c.4045G>A (p.Ala1349Thr) n.4297G>A c.4198G>A (p.Ala1400Thr) c.3103G>A (p.Ala1035Thr) c.2692G>A (p.Ala898Thr) n.4215G>A | |
5 | g.13866247T>A | CA359226307 | DNAH5 | c.4089A>T (p.Glu1363Asp) c.4044A>T (p.Glu1348Asp) n.4296A>T c.4197A>T (p.Glu1399Asp) c.3102A>T (p.Glu1034Asp) c.2691A>T (p.Glu897Asp) n.4214A>T | |
5 | g.13866247T>C | CA443263299 | DNAH5 | c.4089A>G (p.Glu1363=) c.4044A>G (p.Glu1348=) n.4296A>G c.4197A>G (p.Glu1399=) c.3102A>G (p.Glu1034=) c.2691A>G (p.Glu897=) n.4214A>G | |
5 | g.13866247T>G | CA359226317 | DNAH5 | c.4089A>C (p.Glu1363Asp) c.4044A>C (p.Glu1348Asp) n.4296A>C c.4197A>C (p.Glu1399Asp) c.3102A>C (p.Glu1034Asp) c.2691A>C (p.Glu897Asp) n.4214A>C | |
5 | g.13866248T>A | CA359226321 | DNAH5 | c.4088A>T (p.Glu1363Val) c.4043A>T (p.Glu1348Val) n.4295A>T c.4196A>T (p.Glu1399Val) c.3101A>T (p.Glu1034Val) c.2690A>T (p.Glu897Val) n.4213A>T | |
5 | g.13866248T>C | CA359226322 | DNAH5 | c.4088A>G (p.Glu1363Gly) c.4043A>G (p.Glu1348Gly) n.4295A>G c.4196A>G (p.Glu1399Gly) c.3101A>G (p.Glu1034Gly) c.2690A>G (p.Glu897Gly) n.4213A>G | COSMIC |
5 | g.13866248T>G | CA359226324 | DNAH5 | c.4088A>C (p.Glu1363Ala) c.4043A>C (p.Glu1348Ala) n.4295A>C c.4196A>C (p.Glu1399Ala) c.3101A>C (p.Glu1034Ala) c.2690A>C (p.Glu897Ala) n.4213A>C | |
5 | g.13866249C>A | CA359226326 | DNAH5 | c.4087G>T (p.Glu1363Ter) c.4042G>T (p.Glu1348Ter) n.4294G>T c.4195G>T (p.Glu1399Ter) c.3100G>T (p.Glu1034Ter) c.2689G>T (p.Glu897Ter) n.4212G>T | ClinVar |
5 | g.13866249C= | CA1528476296 | DNAH5 | c.4087G= (p.Glu1363=) c.4042G= (p.Glu1348=) n.4294G= c.4195G= (p.Glu1399=) c.3100G= (p.Glu1034=) c.2689G= (p.Glu897=) n.4212G= | |
5 | g.13866249C>G | CA359226331 | DNAH5 | c.4087G>C (p.Glu1363Gln) c.4042G>C (p.Glu1348Gln) n.4294G>C c.4195G>C (p.Glu1399Gln) c.3100G>C (p.Glu1034Gln) c.2689G>C (p.Glu897Gln) n.4212G>C | |
5 | g.13866249C>T | CA3204081 | DNAH5 | c.4087G>A (p.Glu1363Lys) c.4042G>A (p.Glu1348Lys) n.4294G>A c.4195G>A (p.Glu1399Lys) c.3100G>A (p.Glu1034Lys) c.2689G>A (p.Glu897Lys) n.4212G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866250C>A | CA359226362 | DNAH5 | c.4086G>T (p.Gln1362His) c.4041G>T (p.Gln1347His) n.4293G>T c.4194G>T (p.Gln1398His) c.3099G>T (p.Gln1033His) c.2688G>T (p.Gln896His) n.4211G>T | |
5 | g.13866250C>G | CA359226366 | DNAH5 | c.4086G>C (p.Gln1362His) c.4041G>C (p.Gln1347His) n.4293G>C c.4194G>C (p.Gln1398His) c.3099G>C (p.Gln1033His) c.2688G>C (p.Gln896His) n.4211G>C | gnomAD v4 |
5 | g.13866250C>T | CA443263301 | DNAH5 | c.4086G>A (p.Gln1362=) c.4041G>A (p.Gln1347=) n.4293G>A c.4194G>A (p.Gln1398=) c.3099G>A (p.Gln1033=) c.2688G>A (p.Gln896=) n.4211G>A | COSMIC |
5 | g.13866251T>A | CA359226368 | DNAH5 | c.4085A>T (p.Gln1362Leu) c.4040A>T (p.Gln1347Leu) n.4292A>T c.4193A>T (p.Gln1398Leu) c.3098A>T (p.Gln1033Leu) c.2687A>T (p.Gln896Leu) n.4210A>T | |
5 | g.13866251T>C | CA359226369 | DNAH5 | c.4085A>G (p.Gln1362Arg) c.4040A>G (p.Gln1347Arg) n.4292A>G c.4193A>G (p.Gln1398Arg) c.3098A>G (p.Gln1033Arg) c.2687A>G (p.Gln896Arg) n.4210A>G | |
5 | g.13866251T>G | CA359226370 | DNAH5 | c.4085A>C (p.Gln1362Pro) c.4040A>C (p.Gln1347Pro) n.4292A>C c.4193A>C (p.Gln1398Pro) c.3098A>C (p.Gln1033Pro) c.2687A>C (p.Gln896Pro) n.4210A>C | gnomAD v4 |
5 | g.13866252G>A | CA359226371 | DNAH5 | c.4084C>T (p.Gln1362Ter) c.4039C>T (p.Gln1347Ter) n.4291C>T c.4192C>T (p.Gln1398Ter) c.3097C>T (p.Gln1033Ter) c.2686C>T (p.Gln896Ter) n.4209C>T | ClinVar dbSNP gnomAD v4 |
5 | g.13866252G>C | CA359226380 | DNAH5 | c.4084C>G (p.Gln1362Glu) c.4039C>G (p.Gln1347Glu) n.4291C>G c.4192C>G (p.Gln1398Glu) c.3097C>G (p.Gln1033Glu) c.2686C>G (p.Gln896Glu) n.4209C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866252G= | CA1528476298 | DNAH5 | c.4084C= (p.Gln1362=) c.4039C= (p.Gln1347=) n.4291C= c.4192C= (p.Gln1398=) c.3097C= (p.Gln1033=) c.2686C= (p.Gln896=) n.4209C= | |
5 | g.13866252G>T | CA359226374 | DNAH5 | c.4084C>A (p.Gln1362Lys) c.4039C>A (p.Gln1347Lys) n.4291C>A c.4192C>A (p.Gln1398Lys) c.3097C>A (p.Gln1033Lys) c.2686C>A (p.Gln896Lys) n.4209C>A | |
5 | g.13866255dup | CA2573138483 | DNAH5 | c.4084dup (p.Gln1362ProfsTer5) c.4039dup (p.Gln1347ProfsTer5) n.4291dup c.4192dup (p.Gln1398ProfsTer5) c.3097dup (p.Gln1033ProfsTer5) c.2686dup (p.Gln896ProfsTer5) n.4209dup | ClinVar dbSNP |
5 | g.13866253G>A | CA3204082 | DNAH5 | c.4083C>T (p.Pro1361=) c.4038C>T (p.Pro1346=) n.4290C>T c.4191C>T (p.Pro1397=) c.3096C>T (p.Pro1032=) c.2685C>T (p.Pro895=) n.4208C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866253G>C | CA443263303 | DNAH5 | c.4083C>G (p.Pro1361=) c.4038C>G (p.Pro1346=) n.4290C>G c.4191C>G (p.Pro1397=) c.3096C>G (p.Pro1032=) c.2685C>G (p.Pro895=) n.4208C>G | |
5 | g.13866253G= | CA1528476301 | DNAH5 | c.4083C= (p.Pro1361=) c.4038C= (p.Pro1346=) n.4290C= c.4191C= (p.Pro1397=) c.3096C= (p.Pro1032=) c.2685C= (p.Pro895=) n.4208C= | |
5 | g.13866253G>T | CA443263304 | DNAH5 | c.4083C>A (p.Pro1361=) c.4038C>A (p.Pro1346=) n.4290C>A c.4191C>A (p.Pro1397=) c.3096C>A (p.Pro1032=) c.2685C>A (p.Pro895=) n.4208C>A | |
5 | g.13866254G>A | CA359226406 | DNAH5 | c.4082C>T (p.Pro1361Leu) c.4037C>T (p.Pro1346Leu) n.4289C>T c.4190C>T (p.Pro1397Leu) c.3095C>T (p.Pro1032Leu) c.2684C>T (p.Pro895Leu) n.4207C>T | |
5 | g.13866254G>C | CA3204083 | DNAH5 | c.4082C>G (p.Pro1361Arg) c.4037C>G (p.Pro1346Arg) n.4289C>G c.4190C>G (p.Pro1397Arg) c.3095C>G (p.Pro1032Arg) c.2684C>G (p.Pro895Arg) n.4207C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866254G= | CA1528476304 | DNAH5 | c.4082C= (p.Pro1361=) c.4037C= (p.Pro1346=) n.4289C= c.4190C= (p.Pro1397=) c.3095C= (p.Pro1032=) c.2684C= (p.Pro895=) n.4207C= | |
5 | g.13866254G>T | CA359226407 | DNAH5 | c.4082C>A (p.Pro1361His) c.4037C>A (p.Pro1346His) n.4289C>A c.4190C>A (p.Pro1397His) c.3095C>A (p.Pro1032His) c.2684C>A (p.Pro895His) n.4207C>A | |
5 | g.13866255G>A | CA359226409 | DNAH5 | c.4081C>T (p.Pro1361Ser) c.4036C>T (p.Pro1346Ser) n.4288C>T c.4189C>T (p.Pro1397Ser) c.3094C>T (p.Pro1032Ser) c.2683C>T (p.Pro895Ser) n.4206C>T | |
5 | g.13866255G>C | CA359226413 | DNAH5 | c.4081C>G (p.Pro1361Ala) c.4036C>G (p.Pro1346Ala) n.4288C>G c.4189C>G (p.Pro1397Ala) c.3094C>G (p.Pro1032Ala) c.2683C>G (p.Pro895Ala) n.4206C>G | |
5 | g.13866255G>T | CA359226410 | DNAH5 | c.4081C>A (p.Pro1361Thr) c.4036C>A (p.Pro1346Thr) n.4288C>A c.4189C>A (p.Pro1397Thr) c.3094C>A (p.Pro1032Thr) c.2683C>A (p.Pro895Thr) n.4206C>A | gnomAD v4 |
5 | g.13866256C>A | CA359226422 | DNAH5 | c.4080G>T (p.Lys1360Asn) c.4035G>T (p.Lys1345Asn) n.4287G>T c.4188G>T (p.Lys1396Asn) c.3093G>T (p.Lys1031Asn) c.2682G>T (p.Lys894Asn) n.4205G>T | |
5 | g.13866256C= | CA1528476306 | DNAH5 | c.4080G= (p.Lys1360=) c.4035G= (p.Lys1345=) n.4287G= c.4188G= (p.Lys1396=) c.3093G= (p.Lys1031=) c.2682G= (p.Lys894=) n.4205G= | |
5 | g.13866256C>G | CA359226443 | DNAH5 | c.4080G>C (p.Lys1360Asn) c.4035G>C (p.Lys1345Asn) n.4287G>C c.4188G>C (p.Lys1396Asn) c.3093G>C (p.Lys1031Asn) c.2682G>C (p.Lys894Asn) n.4205G>C | dbSNP |
5 | g.13866256C>T | CA113977173 | DNAH5 | c.4080G>A (p.Lys1360=) c.4035G>A (p.Lys1345=) n.4287G>A c.4188G>A (p.Lys1396=) c.3093G>A (p.Lys1031=) c.2682G>A (p.Lys894=) n.4205G>A | dbSNP gnomAD v4 |
5 | g.13866257T>A | CA359226476 | DNAH5 | c.4079A>T (p.Lys1360Met) c.4034A>T (p.Lys1345Met) n.4286A>T c.4187A>T (p.Lys1396Met) c.3092A>T (p.Lys1031Met) c.2681A>T (p.Lys894Met) n.4204A>T | dbSNP gnomAD v4 |
5 | g.13866257T>C | CA359226494 | DNAH5 | c.4079A>G (p.Lys1360Arg) c.4034A>G (p.Lys1345Arg) n.4286A>G c.4187A>G (p.Lys1396Arg) c.3092A>G (p.Lys1031Arg) c.2681A>G (p.Lys894Arg) n.4204A>G | |
5 | g.13866257T>G | CA359226498 | DNAH5 | c.4079A>C (p.Lys1360Thr) c.4034A>C (p.Lys1345Thr) n.4286A>C c.4187A>C (p.Lys1396Thr) c.3092A>C (p.Lys1031Thr) c.2681A>C (p.Lys894Thr) n.4204A>C | |
5 | g.13866257T= | CA1528476309 | DNAH5 | c.4079A= (p.Lys1360=) c.4034A= (p.Lys1345=) n.4286A= c.4187A= (p.Lys1396=) c.3092A= (p.Lys1031=) c.2681A= (p.Lys894=) n.4204A= | |
5 | g.13866258T>A | CA359226505 | DNAH5 | c.4078A>T (p.Lys1360Ter) c.4033A>T (p.Lys1345Ter) n.4285A>T c.4186A>T (p.Lys1396Ter) c.3091A>T (p.Lys1031Ter) c.2680A>T (p.Lys894Ter) n.4203A>T | ClinVar dbSNP |
5 | g.13866258T>C | CA359226532 | DNAH5 | c.4078A>G (p.Lys1360Glu) c.4033A>G (p.Lys1345Glu) n.4285A>G c.4186A>G (p.Lys1396Glu) c.3091A>G (p.Lys1031Glu) c.2680A>G (p.Lys894Glu) n.4203A>G | |
5 | g.13866258T>G | CA359226534 | DNAH5 | c.4078A>C (p.Lys1360Gln) c.4033A>C (p.Lys1345Gln) n.4285A>C c.4186A>C (p.Lys1396Gln) c.3091A>C (p.Lys1031Gln) c.2680A>C (p.Lys894Gln) n.4203A>C | |
5 | g.13866258T= | CA1528476311 | DNAH5 | c.4078A= (p.Lys1360=) c.4033A= (p.Lys1345=) n.4285A= c.4186A= (p.Lys1396=) c.3091A= (p.Lys1031=) c.2680A= (p.Lys894=) n.4203A= | |
5 | g.13866259C>A | CA3204084 | DNAH5 | c.4077G>T (p.Leu1359Phe) c.4032G>T (p.Leu1344Phe) n.4284G>T c.4185G>T (p.Leu1395Phe) c.3090G>T (p.Leu1030Phe) c.2679G>T (p.Leu893Phe) n.4202G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866259C= | CA1528476313 | DNAH5 | c.4077G= (p.Leu1359=) c.4032G= (p.Leu1344=) n.4284G= c.4185G= (p.Leu1395=) c.3090G= (p.Leu1030=) c.2679G= (p.Leu893=) n.4202G= | |
5 | g.13866259C>G | CA359226543 | DNAH5 | c.4077G>C (p.Leu1359Phe) c.4032G>C (p.Leu1344Phe) n.4284G>C c.4185G>C (p.Leu1395Phe) c.3090G>C (p.Leu1030Phe) c.2679G>C (p.Leu893Phe) n.4202G>C | |
5 | g.13866259C>T | CA443263311 | DNAH5 | c.4077G>A (p.Leu1359=) c.4032G>A (p.Leu1344=) n.4284G>A c.4185G>A (p.Leu1395=) c.3090G>A (p.Leu1030=) c.2679G>A (p.Leu893=) n.4202G>A | |
5 | g.13866260A= | CA1528476316 | DNAH5 | c.4076T= (p.Leu1359=) c.4031T= (p.Leu1344=) n.4283T= c.4184T= (p.Leu1395=) c.3089T= (p.Leu1030=) c.2678T= (p.Leu893=) n.4201T= | |
5 | g.13866260A>C | CA359226567 | DNAH5 | c.4076T>G (p.Leu1359Trp) c.4031T>G (p.Leu1344Trp) n.4283T>G c.4184T>G (p.Leu1395Trp) c.3089T>G (p.Leu1030Trp) c.2678T>G (p.Leu893Trp) n.4201T>G | dbSNP |
5 | g.13866260A>G | CA359226555 | DNAH5 | c.4076T>C (p.Leu1359Ser) c.4031T>C (p.Leu1344Ser) n.4283T>C c.4184T>C (p.Leu1395Ser) c.3089T>C (p.Leu1030Ser) c.2678T>C (p.Leu893Ser) n.4201T>C | |
5 | g.13866260A>T | CA359226552 | DNAH5 | c.4076T>A (p.Leu1359Ter) c.4031T>A (p.Leu1344Ter) n.4283T>A c.4184T>A (p.Leu1395Ter) c.3089T>A (p.Leu1030Ter) c.2678T>A (p.Leu893Ter) n.4201T>A | |
5 | g.13866260_13866261insT | CA443263313 | DNAH5 | c.4075_4076insA (p.Leu1359TyrfsTer8) c.4030_4031insA (p.Leu1344TyrfsTer8) n.4282_4283insA c.4183_4184insA (p.Leu1395TyrfsTer8) c.3088_3089insA (p.Leu1030TyrfsTer8) c.2677_2678insA (p.Leu893TyrfsTer8) n.4200_4201insA | |
5 | g.13866261A>C | CA359226572 | DNAH5 | c.4075T>G (p.Leu1359Val) c.4030T>G (p.Leu1344Val) n.4282T>G c.4183T>G (p.Leu1395Val) c.3088T>G (p.Leu1030Val) c.2677T>G (p.Leu893Val) n.4200T>G | |
5 | g.13866261A>G | CA443263312 | DNAH5 | c.4075T>C (p.Leu1359=) c.4030T>C (p.Leu1344=) n.4282T>C c.4183T>C (p.Leu1395=) c.3088T>C (p.Leu1030=) c.2677T>C (p.Leu893=) n.4200T>C | ClinVar gnomAD v4 |
5 | g.13866261A>T | CA359226577 | DNAH5 | c.4075T>A (p.Leu1359Met) c.4030T>A (p.Leu1344Met) n.4282T>A c.4183T>A (p.Leu1395Met) c.3088T>A (p.Leu1030Met) c.2677T>A (p.Leu893Met) n.4200T>A | |
5 | g.13866262G>A | CA443263315 | DNAH5 | c.4074C>T (p.Gly1358=) c.4029C>T (p.Gly1343=) n.4281C>T c.4182C>T (p.Gly1394=) c.3087C>T (p.Gly1029=) c.2676C>T (p.Gly892=) n.4199C>T | |
5 | g.13866262G>C | CA443263316 | DNAH5 | c.4074C>G (p.Gly1358=) c.4029C>G (p.Gly1343=) n.4281C>G c.4182C>G (p.Gly1394=) c.3087C>G (p.Gly1029=) c.2676C>G (p.Gly892=) n.4199C>G | |
5 | g.13866262G>T | CA443263317 | DNAH5 | c.4074C>A (p.Gly1358=) c.4029C>A (p.Gly1343=) n.4281C>A c.4182C>A (p.Gly1394=) c.3087C>A (p.Gly1029=) c.2676C>A (p.Gly892=) n.4199C>A | |
5 | g.13866263C>A | CA3204085 | DNAH5 | c.4073G>T (p.Gly1358Val) c.4028G>T (p.Gly1343Val) n.4280G>T c.4181G>T (p.Gly1394Val) c.3086G>T (p.Gly1029Val) c.2675G>T (p.Gly892Val) n.4198G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866263C= | CA1528476318 | DNAH5 | c.4073G= (p.Gly1358=) c.4028G= (p.Gly1343=) n.4280G= c.4181G= (p.Gly1394=) c.3086G= (p.Gly1029=) c.2675G= (p.Gly892=) n.4198G= | |
5 | g.13866263C>G | CA359226589 | DNAH5 | c.4073G>C (p.Gly1358Ala) c.4028G>C (p.Gly1343Ala) n.4280G>C c.4181G>C (p.Gly1394Ala) c.3086G>C (p.Gly1029Ala) c.2675G>C (p.Gly892Ala) n.4198G>C | dbSNP |
5 | g.13866263C>T | CA359226593 | DNAH5 | c.4073G>A (p.Gly1358Asp) c.4028G>A (p.Gly1343Asp) n.4280G>A c.4181G>A (p.Gly1394Asp) c.3086G>A (p.Gly1029Asp) c.2675G>A (p.Gly892Asp) n.4198G>A | dbSNP gnomAD v2 |
5 | g.13866264C>A | CA359226607 | DNAH5 | c.4072G>T (p.Gly1358Cys) c.4027G>T (p.Gly1343Cys) n.4279G>T c.4180G>T (p.Gly1394Cys) c.3085G>T (p.Gly1029Cys) c.2674G>T (p.Gly892Cys) n.4197G>T | |
5 | g.13866264C= | CA1528476323 | DNAH5 | c.4072G= (p.Gly1358=) c.4027G= (p.Gly1343=) n.4279G= c.4180G= (p.Gly1394=) c.3085G= (p.Gly1029=) c.2674G= (p.Gly892=) n.4197G= | |
5 | g.13866264C>G | CA359226618 | DNAH5 | c.4072G>C (p.Gly1358Arg) c.4027G>C (p.Gly1343Arg) n.4279G>C c.4180G>C (p.Gly1394Arg) c.3085G>C (p.Gly1029Arg) c.2674G>C (p.Gly892Arg) n.4197G>C | |
5 | g.13866264C>T | CA3204086 | DNAH5 | c.4072G>A (p.Gly1358Ser) c.4027G>A (p.Gly1343Ser) n.4279G>A c.4180G>A (p.Gly1394Ser) c.3085G>A (p.Gly1029Ser) c.2674G>A (p.Gly892Ser) n.4197G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866265G>A | CA3204087 | DNAH5 | c.4071C>T (p.Ser1357=) c.4026C>T (p.Ser1342=) n.4278C>T c.4179C>T (p.Ser1393=) c.3084C>T (p.Ser1028=) c.2673C>T (p.Ser891=) n.4196C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866265G>C | CA359226656 | DNAH5 | c.4071C>G (p.Ser1357Arg) c.4026C>G (p.Ser1342Arg) n.4278C>G c.4179C>G (p.Ser1393Arg) c.3084C>G (p.Ser1028Arg) c.2673C>G (p.Ser891Arg) n.4196C>G | |
5 | g.13866265G= | CA1528476327 | DNAH5 | c.4071C= (p.Ser1357=) c.4026C= (p.Ser1342=) n.4278C= c.4179C= (p.Ser1393=) c.3084C= (p.Ser1028=) c.2673C= (p.Ser891=) n.4196C= | |
5 | g.13866265G>T | CA359226658 | DNAH5 | c.4071C>A (p.Ser1357Arg) c.4026C>A (p.Ser1342Arg) n.4278C>A c.4179C>A (p.Ser1393Arg) c.3084C>A (p.Ser1028Arg) c.2673C>A (p.Ser891Arg) n.4196C>A | gnomAD v4 |
5 | g.13866266C>A | CA359226661 | DNAH5 | c.4070G>T (p.Ser1357Ile) c.4025G>T (p.Ser1342Ile) n.4277G>T c.4178G>T (p.Ser1393Ile) c.3083G>T (p.Ser1028Ile) c.2672G>T (p.Ser891Ile) n.4195G>T | |
5 | g.13866266C= | CA1528476330 | DNAH5 | c.4070G= (p.Ser1357=) c.4025G= (p.Ser1342=) n.4277G= c.4178G= (p.Ser1393=) c.3083G= (p.Ser1028=) c.2672G= (p.Ser891=) n.4195G= | |
5 | g.13866266C>G | CA359226659 | DNAH5 | c.4070G>C (p.Ser1357Thr) c.4025G>C (p.Ser1342Thr) n.4277G>C c.4178G>C (p.Ser1393Thr) c.3083G>C (p.Ser1028Thr) c.2672G>C (p.Ser891Thr) n.4195G>C | |
5 | g.13866266C>T | CA3204088 | DNAH5 | c.4070G>A (p.Ser1357Asn) c.4025G>A (p.Ser1342Asn) n.4277G>A c.4178G>A (p.Ser1393Asn) c.3083G>A (p.Ser1028Asn) c.2672G>A (p.Ser891Asn) n.4195G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866267T>A | CA359226665 | DNAH5 | c.4069A>T (p.Ser1357Cys) c.4024A>T (p.Ser1342Cys) n.4276A>T c.4177A>T (p.Ser1393Cys) c.3082A>T (p.Ser1028Cys) c.2671A>T (p.Ser891Cys) n.4194A>T | |
5 | g.13866267T>C | CA359226667 | DNAH5 | c.4069A>G (p.Ser1357Gly) c.4024A>G (p.Ser1342Gly) n.4276A>G c.4177A>G (p.Ser1393Gly) c.3082A>G (p.Ser1028Gly) c.2671A>G (p.Ser891Gly) n.4194A>G | |
5 | g.13866267T>G | CA359226670 | DNAH5 | c.4069A>C (p.Ser1357Arg) c.4024A>C (p.Ser1342Arg) n.4276A>C c.4177A>C (p.Ser1393Arg) c.3082A>C (p.Ser1028Arg) c.2671A>C (p.Ser891Arg) n.4194A>C | |
5 | g.13866268A>C | CA443263324 | DNAH5 | c.4068T>G (p.Ala1356=) c.4023T>G (p.Ala1341=) n.4275T>G c.4176T>G (p.Ala1392=) c.3081T>G (p.Ala1027=) c.2670T>G (p.Ala890=) n.4193T>G | |
5 | g.13866268A>G | CA443263327 | DNAH5 | c.4068T>C (p.Ala1356=) c.4023T>C (p.Ala1341=) n.4275T>C c.4176T>C (p.Ala1392=) c.3081T>C (p.Ala1027=) c.2670T>C (p.Ala890=) n.4193T>C | |
5 | g.13866268A>T | CA443263329 | DNAH5 | c.4068T>A (p.Ala1356=) c.4023T>A (p.Ala1341=) n.4275T>A c.4176T>A (p.Ala1392=) c.3081T>A (p.Ala1027=) c.2670T>A (p.Ala890=) n.4193T>A | |
5 | g.13866269G>A | CA359226699 | DNAH5 | c.4067C>T (p.Ala1356Val) c.4022C>T (p.Ala1341Val) n.4274C>T c.4175C>T (p.Ala1392Val) c.3080C>T (p.Ala1027Val) c.2669C>T (p.Ala890Val) n.4192C>T | |
5 | g.13866269G>C | CA359226702 | DNAH5 | c.4067C>G (p.Ala1356Gly) c.4022C>G (p.Ala1341Gly) n.4274C>G c.4175C>G (p.Ala1392Gly) c.3080C>G (p.Ala1027Gly) c.2669C>G (p.Ala890Gly) n.4192C>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866269G= | CA1528476332 | DNAH5 | c.4067C= (p.Ala1356=) c.4022C= (p.Ala1341=) n.4274C= c.4175C= (p.Ala1392=) c.3080C= (p.Ala1027=) c.2669C= (p.Ala890=) n.4192C= | |
5 | g.13866269G>T | CA359226707 | DNAH5 | c.4067C>A (p.Ala1356Asp) c.4022C>A (p.Ala1341Asp) n.4274C>A c.4175C>A (p.Ala1392Asp) c.3080C>A (p.Ala1027Asp) c.2669C>A (p.Ala890Asp) n.4192C>A | |
5 | g.13866270C>A | CA359226711 | DNAH5 | c.4066G>T (p.Ala1356Ser) c.4021G>T (p.Ala1341Ser) n.4273G>T c.4174G>T (p.Ala1392Ser) c.3079G>T (p.Ala1027Ser) c.2668G>T (p.Ala890Ser) n.4191G>T | |
5 | g.13866270C= | CA1528476333 | DNAH5 | c.4066G= (p.Ala1356=) c.4021G= (p.Ala1341=) n.4273G= c.4174G= (p.Ala1392=) c.3079G= (p.Ala1027=) c.2668G= (p.Ala890=) n.4191G= | |
5 | g.13866270C>G | CA359226716 | DNAH5 | c.4066G>C (p.Ala1356Pro) c.4021G>C (p.Ala1341Pro) n.4273G>C c.4174G>C (p.Ala1392Pro) c.3079G>C (p.Ala1027Pro) c.2668G>C (p.Ala890Pro) n.4191G>C | |
5 | g.13866270C>T | CA359226719 | DNAH5 | c.4066G>A (p.Ala1356Thr) c.4021G>A (p.Ala1341Thr) n.4273G>A c.4174G>A (p.Ala1392Thr) c.3079G>A (p.Ala1027Thr) c.2668G>A (p.Ala890Thr) n.4191G>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866271C>A | CA359226721 | DNAH5 | c.4065G>T (p.Met1355Ile) c.4020G>T (p.Met1340Ile) n.4272G>T c.4173G>T (p.Met1391Ile) c.3078G>T (p.Met1026Ile) c.2667G>T (p.Met889Ile) n.4190G>T | |
5 | g.13866271C= | CA1528476334 | DNAH5 | c.4065G= (p.Met1355=) c.4020G= (p.Met1340=) n.4272G= c.4173G= (p.Met1391=) c.3078G= (p.Met1026=) c.2667G= (p.Met889=) n.4190G= | |
5 | g.13866271C>G | CA359226727 | DNAH5 | c.4065G>C (p.Met1355Ile) c.4020G>C (p.Met1340Ile) n.4272G>C c.4173G>C (p.Met1391Ile) c.3078G>C (p.Met1026Ile) c.2667G>C (p.Met889Ile) n.4190G>C | |
5 | g.13866271C>T | CA3204089 | DNAH5 | c.4065G>A (p.Met1355Ile) c.4020G>A (p.Met1340Ile) n.4272G>A c.4173G>A (p.Met1391Ile) c.3078G>A (p.Met1026Ile) c.2667G>A (p.Met889Ile) n.4190G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866272del | CA2673276082 | DNAH5 | c.4064del (p.Met1355ArgfsTer5) c.4019del (p.Met1340ArgfsTer5) n.4271del c.4172del (p.Met1391ArgfsTer5) c.3077del (p.Met1026ArgfsTer5) c.2666del (p.Met889ArgfsTer5) n.4189del | gnomAD v4 |
5 | g.13866272A= | CA1528476336 | DNAH5 | c.4064T= (p.Met1355=) c.4019T= (p.Met1340=) n.4271T= c.4172T= (p.Met1391=) c.3077T= (p.Met1026=) c.2666T= (p.Met889=) n.4189T= | |
5 | g.13866272A>C | CA359226755 | DNAH5 | c.4064T>G (p.Met1355Arg) c.4019T>G (p.Met1340Arg) n.4271T>G c.4172T>G (p.Met1391Arg) c.3077T>G (p.Met1026Arg) c.2666T>G (p.Met889Arg) n.4189T>G | dbSNP |
5 | g.13866272A>G | CA359226743 | DNAH5 | c.4064T>C (p.Met1355Thr) c.4019T>C (p.Met1340Thr) n.4271T>C c.4172T>C (p.Met1391Thr) c.3077T>C (p.Met1026Thr) c.2666T>C (p.Met889Thr) n.4189T>C | |
5 | g.13866272A>T | CA359226749 | DNAH5 | c.4064T>A (p.Met1355Lys) c.4019T>A (p.Met1340Lys) n.4271T>A c.4172T>A (p.Met1391Lys) c.3077T>A (p.Met1026Lys) c.2666T>A (p.Met889Lys) n.4189T>A | |
5 | g.13866273T>A | CA359226764 | DNAH5 | c.4063A>T (p.Met1355Leu) c.4018A>T (p.Met1340Leu) n.4270A>T c.4171A>T (p.Met1391Leu) c.3076A>T (p.Met1026Leu) c.2665A>T (p.Met889Leu) n.4188A>T | |
5 | g.13866273T>C | CA359226778 | DNAH5 | c.4063A>G (p.Met1355Val) c.4018A>G (p.Met1340Val) n.4270A>G c.4171A>G (p.Met1391Val) c.3076A>G (p.Met1026Val) c.2665A>G (p.Met889Val) n.4188A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866273T>G | CA359226784 | DNAH5 | c.4063A>C (p.Met1355Leu) c.4018A>C (p.Met1340Leu) n.4270A>C c.4171A>C (p.Met1391Leu) c.3076A>C (p.Met1026Leu) c.2665A>C (p.Met889Leu) n.4188A>C | |
5 | g.13866273T= | CA1528476338 | DNAH5 | c.4063A= (p.Met1355=) c.4018A= (p.Met1340=) n.4270A= c.4171A= (p.Met1391=) c.3076A= (p.Met1026=) c.2665A= (p.Met889=) n.4188A= | |
5 | g.13866274T>A | CA443263334 | DNAH5 | c.4062A>T (p.Pro1354=) c.4017A>T (p.Pro1339=) n.4269A>T c.4170A>T (p.Pro1390=) c.3075A>T (p.Pro1025=) c.2664A>T (p.Pro888=) n.4187A>T | |
5 | g.13866274T>C | CA443263335 | DNAH5 | c.4062A>G (p.Pro1354=) c.4017A>G (p.Pro1339=) n.4269A>G c.4170A>G (p.Pro1390=) c.3075A>G (p.Pro1025=) c.2664A>G (p.Pro888=) n.4187A>G | |
5 | g.13866274T>G | CA443263336 | DNAH5 | c.4062A>C (p.Pro1354=) c.4017A>C (p.Pro1339=) n.4269A>C c.4170A>C (p.Pro1390=) c.3075A>C (p.Pro1025=) c.2664A>C (p.Pro888=) n.4187A>C | |
5 | g.13866275G>A | CA359226792 | DNAH5 | c.4061C>T (p.Pro1354Leu) c.4016C>T (p.Pro1339Leu) n.4268C>T c.4169C>T (p.Pro1390Leu) c.3074C>T (p.Pro1025Leu) c.2663C>T (p.Pro888Leu) n.4186C>T | |
5 | g.13866275G>C | CA359226796 | DNAH5 | c.4061C>G (p.Pro1354Arg) c.4016C>G (p.Pro1339Arg) n.4268C>G c.4169C>G (p.Pro1390Arg) c.3074C>G (p.Pro1025Arg) c.2663C>G (p.Pro888Arg) n.4186C>G | |
5 | g.13866275G>T | CA359226820 | DNAH5 | c.4061C>A (p.Pro1354Gln) c.4016C>A (p.Pro1339Gln) n.4268C>A c.4169C>A (p.Pro1390Gln) c.3074C>A (p.Pro1025Gln) c.2663C>A (p.Pro888Gln) n.4186C>A | |
5 | g.13866276G>A | CA359226827 | DNAH5 | c.4060C>T (p.Pro1354Ser) c.4015C>T (p.Pro1339Ser) n.4267C>T c.4168C>T (p.Pro1390Ser) c.3073C>T (p.Pro1025Ser) c.2662C>T (p.Pro888Ser) n.4185C>T | gnomAD v4 |
5 | g.13866276G>C | CA3204090 | DNAH5 | c.4060C>G (p.Pro1354Ala) c.4015C>G (p.Pro1339Ala) n.4267C>G c.4168C>G (p.Pro1390Ala) c.3073C>G (p.Pro1025Ala) c.2662C>G (p.Pro888Ala) n.4185C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866276G= | CA1528476340 | DNAH5 | c.4060C= (p.Pro1354=) c.4015C= (p.Pro1339=) n.4267C= c.4168C= (p.Pro1390=) c.3073C= (p.Pro1025=) c.2662C= (p.Pro888=) n.4185C= | |
5 | g.13866276G>T | CA359226847 | DNAH5 | c.4060C>A (p.Pro1354Thr) c.4015C>A (p.Pro1339Thr) n.4267C>A c.4168C>A (p.Pro1390Thr) c.3073C>A (p.Pro1025Thr) c.2662C>A (p.Pro888Thr) n.4185C>A | gnomAD v4 |
5 | g.13866277A>C | CA443263342 | DNAH5 | c.4059T>G (p.Gly1353=) c.4014T>G (p.Gly1338=) n.4266T>G c.4167T>G (p.Gly1389=) c.3072T>G (p.Gly1024=) c.2661T>G (p.Gly887=) n.4184T>G | |
5 | g.13866277A>G | CA443263343 | DNAH5 | c.4059T>C (p.Gly1353=) c.4014T>C (p.Gly1338=) n.4266T>C c.4167T>C (p.Gly1389=) c.3072T>C (p.Gly1024=) c.2661T>C (p.Gly887=) n.4184T>C | |
5 | g.13866277A>T | CA443263344 | DNAH5 | c.4059T>A (p.Gly1353=) c.4014T>A (p.Gly1338=) n.4266T>A c.4167T>A (p.Gly1389=) c.3072T>A (p.Gly1024=) c.2661T>A (p.Gly887=) n.4184T>A | |
5 | g.13866278C>A | CA359226857 | DNAH5 | c.4058G>T (p.Gly1353Val) c.4013G>T (p.Gly1338Val) n.4265G>T c.4166G>T (p.Gly1389Val) c.3071G>T (p.Gly1024Val) c.2660G>T (p.Gly887Val) n.4183G>T | |
5 | g.13866278C>G | CA359226859 | DNAH5 | c.4058G>C (p.Gly1353Ala) c.4013G>C (p.Gly1338Ala) n.4265G>C c.4166G>C (p.Gly1389Ala) c.3071G>C (p.Gly1024Ala) c.2660G>C (p.Gly887Ala) n.4183G>C | |
5 | g.13866278C>T | CA359226863 | DNAH5 | c.4058G>A (p.Gly1353Asp) c.4013G>A (p.Gly1338Asp) n.4265G>A c.4166G>A (p.Gly1389Asp) c.3071G>A (p.Gly1024Asp) c.2660G>A (p.Gly887Asp) n.4183G>A | gnomAD v4 |
5 | g.13866279C>A | CA3204091 | DNAH5 | c.4057G>T (p.Gly1353Cys) c.4012G>T (p.Gly1338Cys) n.4264G>T c.4165G>T (p.Gly1389Cys) c.3070G>T (p.Gly1024Cys) c.2659G>T (p.Gly887Cys) n.4182G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866279C= | CA1528476342 | DNAH5 | c.4057G= (p.Gly1353=) c.4012G= (p.Gly1338=) n.4264G= c.4165G= (p.Gly1389=) c.3070G= (p.Gly1024=) c.2659G= (p.Gly887=) n.4182G= | |
5 | g.13866279C>G | CA359226878 | DNAH5 | c.4057G>C (p.Gly1353Arg) c.4012G>C (p.Gly1338Arg) n.4264G>C c.4165G>C (p.Gly1389Arg) c.3070G>C (p.Gly1024Arg) c.2659G>C (p.Gly887Arg) n.4182G>C | |
5 | g.13866279C>T | CA359226866 | DNAH5 | c.4057G>A (p.Gly1353Ser) c.4012G>A (p.Gly1338Ser) n.4264G>A c.4165G>A (p.Gly1389Ser) c.3070G>A (p.Gly1024Ser) c.2659G>A (p.Gly887Ser) n.4182G>A | |
5 | g.13866280A= | CA1528476344 | DNAH5 | c.4056T= (p.Asn1352=) c.4011T= (p.Asn1337=) n.4263T= c.4164T= (p.Asn1388=) c.3069T= (p.Asn1023=) c.2658T= (p.Asn886=) n.4181T= | |
5 | g.13866280A>C | CA359226894 | DNAH5 | c.4056T>G (p.Asn1352Lys) c.4011T>G (p.Asn1337Lys) n.4263T>G c.4164T>G (p.Asn1388Lys) c.3069T>G (p.Asn1023Lys) c.2658T>G (p.Asn886Lys) n.4181T>G | dbSNP |
5 | g.13866280A>G | CA443263347 | DNAH5 | c.4056T>C (p.Asn1352=) c.4011T>C (p.Asn1337=) n.4263T>C c.4164T>C (p.Asn1388=) c.3069T>C (p.Asn1023=) c.2658T>C (p.Asn886=) n.4181T>C | ClinVar |
5 | g.13866280A>T | CA359226891 | DNAH5 | c.4056T>A (p.Asn1352Lys) c.4011T>A (p.Asn1337Lys) n.4263T>A c.4164T>A (p.Asn1388Lys) c.3069T>A (p.Asn1023Lys) c.2658T>A (p.Asn886Lys) n.4181T>A | |
5 | g.13866281T>A | CA359226899 | DNAH5 | c.4055A>T (p.Asn1352Ile) c.4010A>T (p.Asn1337Ile) n.4262A>T c.4163A>T (p.Asn1388Ile) c.3068A>T (p.Asn1023Ile) c.2657A>T (p.Asn886Ile) n.4180A>T | |
5 | g.13866281T>C | CA359226923 | DNAH5 | c.4055A>G (p.Asn1352Ser) c.4010A>G (p.Asn1337Ser) n.4262A>G c.4163A>G (p.Asn1388Ser) c.3068A>G (p.Asn1023Ser) c.2657A>G (p.Asn886Ser) n.4180A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866281T>G | CA113977227 | DNAH5 | c.4055A>C (p.Asn1352Thr) c.4010A>C (p.Asn1337Thr) n.4262A>C c.4163A>C (p.Asn1388Thr) c.3068A>C (p.Asn1023Thr) c.2657A>C (p.Asn886Thr) n.4180A>C | dbSNP COSMIC |
5 | g.13866281T= | CA1528476345 | DNAH5 | c.4055A= (p.Asn1352=) c.4010A= (p.Asn1337=) n.4262A= c.4163A= (p.Asn1388=) c.3068A= (p.Asn1023=) c.2657A= (p.Asn886=) n.4180A= | |
5 | g.13866282T>A | CA359226939 | DNAH5 | c.4054A>T (p.Asn1352Tyr) c.4009A>T (p.Asn1337Tyr) n.4261A>T c.4162A>T (p.Asn1388Tyr) c.3067A>T (p.Asn1023Tyr) c.2656A>T (p.Asn886Tyr) n.4179A>T | |
5 | g.13866282T>C | CA359226958 | DNAH5 | c.4054A>G (p.Asn1352Asp) c.4009A>G (p.Asn1337Asp) n.4261A>G c.4162A>G (p.Asn1388Asp) c.3067A>G (p.Asn1023Asp) c.2656A>G (p.Asn886Asp) n.4179A>G | |
5 | g.13866282T>G | CA359226962 | DNAH5 | c.4054A>C (p.Asn1352His) c.4009A>C (p.Asn1337His) n.4261A>C c.4162A>C (p.Asn1388His) c.3067A>C (p.Asn1023His) c.2656A>C (p.Asn886His) n.4179A>C | |
5 | g.13866283C>A | CA359226971 | DNAH5 | c.4054-1G>T (n.4054-1G>T) c.4009-1G>T (n.4009-1G>T) n.4261-1G>T c.4162-1G>T (n.4162-1G>T) c.3067-1G>T (n.3067-1G>T) c.2656-1G>T (n.2656-1G>T) n.4179-1G>T | gnomAD v4 |
5 | g.13866283C>G | CA359226972 | DNAH5 | c.4054-1G>C (n.4054-1G>C) c.4009-1G>C (n.4009-1G>C) n.4261-1G>C c.4162-1G>C (n.4162-1G>C) c.3067-1G>C (n.3067-1G>C) c.2656-1G>C (n.2656-1G>C) n.4179-1G>C | |
5 | g.13866283C>T | CA359226974 | DNAH5 | c.4054-1G>A (n.4054-1G>A) c.4009-1G>A (n.4009-1G>A) n.4261-1G>A c.4162-1G>A (n.4162-1G>A) c.3067-1G>A (n.3067-1G>A) c.2656-1G>A (n.2656-1G>A) n.4179-1G>A | ClinVar dbSNP gnomAD v4 |
5 | g.13866284T>A | CA359226975 | DNAH5 | c.4054-2A>T (n.4054-2A>T) c.4009-2A>T (n.4009-2A>T) n.4261-2A>T c.4162-2A>T (n.4162-2A>T) c.3067-2A>T (n.3067-2A>T) c.2656-2A>T (n.2656-2A>T) n.4179-2A>T | |
5 | g.13866284T>C | CA359226976 | DNAH5 | c.4054-2A>G (n.4054-2A>G) c.4009-2A>G (n.4009-2A>G) n.4261-2A>G c.4162-2A>G (n.4162-2A>G) c.3067-2A>G (n.3067-2A>G) c.2656-2A>G (n.2656-2A>G) n.4179-2A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13866284T>G | CA359226989 | DNAH5 | c.4054-2A>C (n.4054-2A>C) c.4009-2A>C (n.4009-2A>C) n.4261-2A>C c.4162-2A>C (n.4162-2A>C) c.3067-2A>C (n.3067-2A>C) c.2656-2A>C (n.2656-2A>C) n.4179-2A>C | |
5 | g.13866284T= | CA1528476347 | DNAH5 | c.4054-2A= (n.4054-2A=) c.4009-2A= (n.4009-2A=) n.4261-2A= c.4162-2A= (n.4162-2A=) c.3067-2A= (n.3067-2A=) c.2656-2A= (n.2656-2A=) n.4179-2A= | |
5 | g.13866285G>A | CA804500012 | DNAH5 | c.4054-3C>T (n.4054-3C>T) c.4009-3C>T (n.4009-3C>T) n.4261-3C>T c.4162-3C>T (n.4162-3C>T) c.3067-3C>T (n.3067-3C>T) c.2656-3C>T (n.2656-3C>T) n.4179-3C>T | dbSNP |
5 | g.13866285G= | CA1528476349 | DNAH5 | c.4054-3C= (n.4054-3C=) c.4009-3C= (n.4009-3C=) n.4261-3C= c.4162-3C= (n.4162-3C=) c.3067-3C= (n.3067-3C=) c.2656-3C= (n.2656-3C=) n.4179-3C= | |
5 | g.13866285G>T | CA2673276083 | DNAH5 | c.4054-3C>A (n.4054-3C>A) c.4009-3C>A (n.4009-3C>A) n.4261-3C>A c.4162-3C>A (n.4162-3C>A) c.3067-3C>A (n.3067-3C>A) c.2656-3C>A (n.2656-3C>A) n.4179-3C>A | gnomAD v4 |
5 | g.13866286A= | CA1528476352 | DNAH5 | c.4054-4T= (n.4054-4T=) c.4009-4T= (n.4009-4T=) n.4261-4T= c.4162-4T= (n.4162-4T=) c.3067-4T= (n.3067-4T=) c.2656-4T= (n.2656-4T=) n.4179-4T= | |
5 | g.13866286A>G | CA3204092 | DNAH5 | c.4054-4T>C (n.4054-4T>C) c.4009-4T>C (n.4009-4T>C) n.4261-4T>C c.4162-4T>C (n.4162-4T>C) c.3067-4T>C (n.3067-4T>C) c.2656-4T>C (n.2656-4T>C) n.4179-4T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866287A>G | CA2573138486 | DNAH5 | c.4054-5T>C (n.4054-5T>C) c.4009-5T>C (n.4009-5T>C) n.4261-5T>C c.4162-5T>C (n.4162-5T>C) c.3067-5T>C (n.3067-5T>C) c.2656-5T>C (n.2656-5T>C) n.4179-5T>C | ClinVar dbSNP |
5 | g.13866288C>A | CA2673276084 | DNAH5 | c.4054-6G>T (n.4054-6G>T) c.4009-6G>T (n.4009-6G>T) n.4261-6G>T c.4162-6G>T (n.4162-6G>T) c.3067-6G>T (n.3067-6G>T) c.2656-6G>T (n.2656-6G>T) n.4179-6G>T | gnomAD v4 |
5 | g.13866288C= | CA1528476354 | DNAH5 | c.4054-6G= (n.4054-6G=) c.4009-6G= (n.4009-6G=) n.4261-6G= c.4162-6G= (n.4162-6G=) c.3067-6G= (n.3067-6G=) c.2656-6G= (n.2656-6G=) n.4179-6G= | |
5 | g.13866288C>G | CA3204093 | DNAH5 | c.4054-6G>C (n.4054-6G>C) c.4009-6G>C (n.4009-6G>C) n.4261-6G>C c.4162-6G>C (n.4162-6G>C) c.3067-6G>C (n.3067-6G>C) c.2656-6G>C (n.2656-6G>C) n.4179-6G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866289A>G | CA2673276085 | DNAH5 | c.4054-7T>C (n.4054-7T>C) c.4009-7T>C (n.4009-7T>C) n.4261-7T>C c.4162-7T>C (n.4162-7T>C) c.3067-7T>C (n.3067-7T>C) c.2656-7T>C (n.2656-7T>C) n.4179-7T>C | gnomAD v4 |
5 | g.13866292A>C | CA2739274630 | DNAH5 | c.4054-10T>G (n.4054-10T>G) c.4009-10T>G (n.4009-10T>G) n.4261-10T>G c.4162-10T>G (n.4162-10T>G) c.3067-10T>G (n.3067-10T>G) c.2656-10T>G (n.2656-10T>G) n.4179-10T>G | ClinVar |
5 | g.13866292A>G | CA2673276086 | DNAH5 | c.4054-10T>C (n.4054-10T>C) c.4009-10T>C (n.4009-10T>C) n.4261-10T>C c.4162-10T>C (n.4162-10T>C) c.3067-10T>C (n.3067-10T>C) c.2656-10T>C (n.2656-10T>C) n.4179-10T>C | gnomAD v4 |
5 | g.13866292A>T | CA2673276087 | DNAH5 | c.4054-10T>A (n.4054-10T>A) c.4009-10T>A (n.4009-10T>A) n.4261-10T>A c.4162-10T>A (n.4162-10T>A) c.3067-10T>A (n.3067-10T>A) c.2656-10T>A (n.2656-10T>A) n.4179-10T>A | gnomAD v4 |
5 | g.13866294G>A | CA2673276088 | DNAH5 | c.4054-12C>T (n.4054-12C>T) c.4009-12C>T (n.4009-12C>T) n.4261-12C>T c.4162-12C>T (n.4162-12C>T) c.3067-12C>T (n.3067-12C>T) c.2656-12C>T (n.2656-12C>T) n.4179-12C>T | gnomAD v4 |
5 | g.13866294G>C | CA1528476356 | DNAH5 | c.4054-12C>G (n.4054-12C>G) c.4009-12C>G (n.4009-12C>G) n.4261-12C>G c.4162-12C>G (n.4162-12C>G) c.3067-12C>G (n.3067-12C>G) c.2656-12C>G (n.2656-12C>G) n.4179-12C>G | ClinVar dbSNP gnomAD v4 |
5 | g.13866294G= | CA1528476355 | DNAH5 | c.4054-12C= (n.4054-12C=) c.4009-12C= (n.4009-12C=) n.4261-12C= c.4162-12C= (n.4162-12C=) c.3067-12C= (n.3067-12C=) c.2656-12C= (n.2656-12C=) n.4179-12C= | |
5 | g.13866295T>A | CA3204094 | DNAH5 | c.4054-13A>T (n.4054-13A>T) c.4009-13A>T (n.4009-13A>T) n.4261-13A>T c.4162-13A>T (n.4162-13A>T) c.3067-13A>T (n.3067-13A>T) c.2656-13A>T (n.2656-13A>T) n.4179-13A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13866295T>G | CA2561548101 | DNAH5 | c.4054-13A>C (n.4054-13A>C) c.4009-13A>C (n.4009-13A>C) n.4261-13A>C c.4162-13A>C (n.4162-13A>C) c.3067-13A>C (n.3067-13A>C) c.2656-13A>C (n.2656-13A>C) n.4179-13A>C | |
5 | g.13866295T= | CA1528476358 | DNAH5 | c.4054-13A= (n.4054-13A=) c.4009-13A= (n.4009-13A=) n.4261-13A= c.4162-13A= (n.4162-13A=) c.3067-13A= (n.3067-13A=) c.2656-13A= (n.2656-13A=) n.4179-13A= | |
5 | g.13866295_13866296delinsTA | CA1528476359 | DNAH5 | c.4054-14_4054-13delinsTA (n.4054-14_4054-13delinsTA) c.4009-14_4009-13delinsTA (n.4009-14_4009-13delinsTA) n.4261-14_4261-13delinsTA c.4162-14_4162-13delinsTA (n.4162-14_4162-13delinsTA) c.3067-14_3067-13delinsTA (n.3067-14_3067-13delinsTA) c.2656-14_2656-13delinsTA (n.2656-14_2656-13delinsTA) n.4179-14_4179-13delinsTA | |
5 | g.13866296A>T | CA2673276089 | DNAH5 | c.4054-14T>A (n.4054-14T>A) c.4009-14T>A (n.4009-14T>A) n.4261-14T>A c.4162-14T>A (n.4162-14T>A) c.3067-14T>A (n.3067-14T>A) c.2656-14T>A (n.2656-14T>A) n.4179-14T>A | gnomAD v4 |
5 | g.13866302dup | CA1073406853 | DNAH5 | c.4054-14dup (n.4054-14dup) c.4009-14dup (n.4009-14dup) n.4261-14dup c.4162-14dup (n.4162-14dup) c.3067-14dup (n.3067-14dup) c.2656-14dup (n.2656-14dup) n.4179-14dup | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13866302del | CA917418295 | DNAH5 | c.4054-14del (n.4054-14del) c.4009-14del (n.4009-14del) n.4261-14del c.4162-14del (n.4162-14del) c.3067-14del (n.3067-14del) c.2656-14del (n.2656-14del) n.4179-14del | dbSNP gnomAD v4 |
5 | g.13866297A= | CA1528476361 | DNAH5 | c.4054-15T= (n.4054-15T=) c.4009-15T= (n.4009-15T=) n.4261-15T= c.4162-15T= (n.4162-15T=) c.3067-15T= (n.3067-15T=) c.2656-15T= (n.2656-15T=) n.4179-15T= | |
5 | g.13866297A>T | CA1073406856 | DNAH5 | c.4054-15T>A (n.4054-15T>A) c.4009-15T>A (n.4009-15T>A) n.4261-15T>A c.4162-15T>A (n.4162-15T>A) c.3067-15T>A (n.3067-15T>A) c.2656-15T>A (n.2656-15T>A) n.4179-15T>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13866298A>G | CA2673276090 | DNAH5 | c.4054-16T>C (n.4054-16T>C) c.4009-16T>C (n.4009-16T>C) n.4261-16T>C c.4162-16T>C (n.4162-16T>C) c.3067-16T>C (n.3067-16T>C) c.2656-16T>C (n.2656-16T>C) n.4179-16T>C | ClinVar gnomAD v4 |
5 | g.13866299A>G | CA2673276091 | DNAH5 | c.4054-17T>C (n.4054-17T>C) c.4009-17T>C (n.4009-17T>C) n.4261-17T>C c.4162-17T>C (n.4162-17T>C) c.3067-17T>C (n.3067-17T>C) c.2656-17T>C (n.2656-17T>C) n.4179-17T>C | ClinVar gnomAD v4 |
5 | g.13866300A= | CA1528476362 | DNAH5 | c.4054-18T= (n.4054-18T=) c.4009-18T= (n.4009-18T=) n.4261-18T= c.4162-18T= (n.4162-18T=) c.3067-18T= (n.3067-18T=) c.2656-18T= (n.2656-18T=) n.4179-18T= | |
5 | g.13866300A>G | CA557873633 | DNAH5 | c.4054-18T>C (n.4054-18T>C) c.4009-18T>C (n.4009-18T>C) n.4261-18T>C c.4162-18T>C (n.4162-18T>C) c.3067-18T>C (n.3067-18T>C) c.2656-18T>C (n.2656-18T>C) n.4179-18T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866300_13866301insCAACAACAAC | CA2534428068 | DNAH5 | c.4054-19_4054-18insGTTGTTGTTG (n.4054-19_4054-18insGTTGTTGTTG) c.4009-19_4009-18insGTTGTTGTTG (n.4009-19_4009-18insGTTGTTGTTG) n.4261-19_4261-18insGTTGTTGTTG c.4162-19_4162-18insGTTGTTGTTG (n.4162-19_4162-18insGTTGTTGTTG) c.3067-19_3067-18insGTTGTTGTTG (n.3067-19_3067-18insGTTGTTGTTG) c.2656-19_2656-18insGTTGTTGTTG (n.2656-19_2656-18insGTTGTTGTTG) n.4179-19_4179-18insGTTGTTGTTG | |
5 | g.13866301A>T | CA2592520398 | DNAH5 | c.4054-19T>A (n.4054-19T>A) c.4009-19T>A (n.4009-19T>A) n.4261-19T>A c.4162-19T>A (n.4162-19T>A) c.3067-19T>A (n.3067-19T>A) c.2656-19T>A (n.2656-19T>A) n.4179-19T>A | ClinVar gnomAD v3 gnomAD v4 |
5 | g.13866302A= | CA1528476364 | DNAH5 | c.4054-20T= (n.4054-20T=) c.4009-20T= (n.4009-20T=) n.4261-20T= c.4162-20T= (n.4162-20T=) c.3067-20T= (n.3067-20T=) c.2656-20T= (n.2656-20T=) n.4179-20T= | |
5 | g.13866302A>C | CA2673276092 | DNAH5 | c.4054-20T>G (n.4054-20T>G) c.4009-20T>G (n.4009-20T>G) n.4261-20T>G c.4162-20T>G (n.4162-20T>G) c.3067-20T>G (n.3067-20T>G) c.2656-20T>G (n.2656-20T>G) n.4179-20T>G | gnomAD v4 |
5 | g.13866302A>G | CA3204095 | DNAH5 | c.4054-20T>C (n.4054-20T>C) c.4009-20T>C (n.4009-20T>C) n.4261-20T>C c.4162-20T>C (n.4162-20T>C) c.3067-20T>C (n.3067-20T>C) c.2656-20T>C (n.2656-20T>C) n.4179-20T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866303G>A | CA557873636 | DNAH5 | c.4054-21C>T (n.4054-21C>T) c.4009-21C>T (n.4009-21C>T) n.4261-21C>T c.4162-21C>T (n.4162-21C>T) c.3067-21C>T (n.3067-21C>T) c.2656-21C>T (n.2656-21C>T) n.4179-21C>T | dbSNP gnomAD v2 |
5 | g.13866303G>C | CA557873638 | DNAH5 | c.4054-21C>G (n.4054-21C>G) c.4009-21C>G (n.4009-21C>G) n.4261-21C>G c.4162-21C>G (n.4162-21C>G) c.3067-21C>G (n.3067-21C>G) c.2656-21C>G (n.2656-21C>G) n.4179-21C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866303G= | CA1528476367 | DNAH5 | c.4054-21C= (n.4054-21C=) c.4009-21C= (n.4009-21C=) n.4261-21C= c.4162-21C= (n.4162-21C=) c.3067-21C= (n.3067-21C=) c.2656-21C= (n.2656-21C=) n.4179-21C= | |
5 | g.13866308del | CA2673276093 | DNAH5 | c.4054-22del (n.4054-22del) c.4009-22del (n.4009-22del) n.4261-22del c.4162-22del (n.4162-22del) c.3067-22del (n.3067-22del) c.2656-22del (n.2656-22del) n.4179-22del | gnomAD v4 |
5 | g.13866306A= | CA1528476369 | DNAH5 | c.4054-24T= (n.4054-24T=) c.4009-24T= (n.4009-24T=) n.4261-24T= c.4162-24T= (n.4162-24T=) c.3067-24T= (n.3067-24T=) c.2656-24T= (n.2656-24T=) n.4179-24T= | |
5 | g.13866306A>G | CA557873640 | DNAH5 | c.4054-24T>C (n.4054-24T>C) c.4009-24T>C (n.4009-24T>C) n.4261-24T>C c.4162-24T>C (n.4162-24T>C) c.3067-24T>C (n.3067-24T>C) c.2656-24T>C (n.2656-24T>C) n.4179-24T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866307A>G | CA2673276094 | DNAH5 | c.4054-25T>C (n.4054-25T>C) c.4009-25T>C (n.4009-25T>C) n.4261-25T>C c.4162-25T>C (n.4162-25T>C) c.3067-25T>C (n.3067-25T>C) c.2656-25T>C (n.2656-25T>C) n.4179-25T>C | gnomAD v4 |
5 | g.13866309T>A | CA2673276095 | DNAH5 | c.4054-27A>T (n.4054-27A>T) c.4009-27A>T (n.4009-27A>T) n.4261-27A>T c.4162-27A>T (n.4162-27A>T) c.3067-27A>T (n.3067-27A>T) c.2656-27A>T (n.2656-27A>T) n.4179-27A>T | gnomAD v4 |
5 | g.13866309T>C | CA3204096 | DNAH5 | c.4054-27A>G (n.4054-27A>G) c.4009-27A>G (n.4009-27A>G) n.4261-27A>G c.4162-27A>G (n.4162-27A>G) c.3067-27A>G (n.3067-27A>G) c.2656-27A>G (n.2656-27A>G) n.4179-27A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13866309T= | CA1528476372 | DNAH5 | c.4054-27A= (n.4054-27A=) c.4009-27A= (n.4009-27A=) n.4261-27A= c.4162-27A= (n.4162-27A=) c.3067-27A= (n.3067-27A=) c.2656-27A= (n.2656-27A=) n.4179-27A= | |
5 | g.13866309_13866313delinsTAGAA | CA1528476373 | DNAH5 | c.4054-31_4054-27delinsTTCTA (n.4054-31_4054-27delinsTTCTA) c.4009-31_4009-27delinsTTCTA (n.4009-31_4009-27delinsTTCTA) n.4261-31_4261-27delinsTTCTA c.4162-31_4162-27delinsTTCTA (n.4162-31_4162-27delinsTTCTA) c.3067-31_3067-27delinsTTCTA (n.3067-31_3067-27delinsTTCTA) c.2656-31_2656-27delinsTTCTA (n.2656-31_2656-27delinsTTCTA) n.4179-31_4179-27delinsTTCTA | |
5 | g.13866310A= | CA1528476376 | DNAH5 | c.4054-28T= (n.4054-28T=) c.4009-28T= (n.4009-28T=) n.4261-28T= c.4162-28T= (n.4162-28T=) c.3067-28T= (n.3067-28T=) c.2656-28T= (n.2656-28T=) n.4179-28T= | |
5 | g.13866310A>C | CA557873641 | DNAH5 | c.4054-28T>G (n.4054-28T>G) c.4009-28T>G (n.4009-28T>G) n.4261-28T>G c.4162-28T>G (n.4162-28T>G) c.3067-28T>G (n.3067-28T>G) c.2656-28T>G (n.2656-28T>G) n.4179-28T>G | dbSNP gnomAD v2 |
5 | g.13866310_13866313del | CA804500036 | DNAH5 | c.4054-31_4054-28del (n.4054-31_4054-28del) c.4009-31_4009-28del (n.4009-31_4009-28del) n.4261-31_4261-28del c.4162-31_4162-28del (n.4162-31_4162-28del) c.3067-31_3067-28del (n.3067-31_3067-28del) c.2656-31_2656-28del (n.2656-31_2656-28del) n.4179-31_4179-28del | dbSNP |
5 | g.13866311G>A | CA804500039 | DNAH5 | c.4054-29C>T (n.4054-29C>T) c.4009-29C>T (n.4009-29C>T) n.4261-29C>T c.4162-29C>T (n.4162-29C>T) c.3067-29C>T (n.3067-29C>T) c.2656-29C>T (n.2656-29C>T) n.4179-29C>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13866311G>C | CA557873642 | DNAH5 | c.4054-29C>G (n.4054-29C>G) c.4009-29C>G (n.4009-29C>G) n.4261-29C>G c.4162-29C>G (n.4162-29C>G) c.3067-29C>G (n.3067-29C>G) c.2656-29C>G (n.2656-29C>G) n.4179-29C>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13866311G= | CA1528476380 | DNAH5 | c.4054-29C= (n.4054-29C=) c.4009-29C= (n.4009-29C=) n.4261-29C= c.4162-29C= (n.4162-29C=) c.3067-29C= (n.3067-29C=) c.2656-29C= (n.2656-29C=) n.4179-29C= | |
5 | g.13866311G>T | CA2673276096 | DNAH5 | c.4054-29C>A (n.4054-29C>A) c.4009-29C>A (n.4009-29C>A) n.4261-29C>A c.4162-29C>A (n.4162-29C>A) c.3067-29C>A (n.3067-29C>A) c.2656-29C>A (n.2656-29C>A) n.4179-29C>A | gnomAD v4 |
5 | g.13866311_13866312delinsGA | CA1528476378 | DNAH5 | c.4054-30_4054-29delinsTC (n.4054-30_4054-29delinsTC) c.4009-30_4009-29delinsTC (n.4009-30_4009-29delinsTC) n.4261-30_4261-29delinsTC c.4162-30_4162-29delinsTC (n.4162-30_4162-29delinsTC) c.3067-30_3067-29delinsTC (n.3067-30_3067-29delinsTC) c.2656-30_2656-29delinsTC (n.2656-30_2656-29delinsTC) n.4179-30_4179-29delinsTC | |
5 | g.13866311_13866312insGGCCGGGCGCGGTGGCTCACGCCTGT | CA1073406892 | DNAH5 | c.4054-30_4054-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.4054-30_4054-29insACAGGCGTGAGCCACCGCGCCCGGCC) c.4009-30_4009-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.4009-30_4009-29insACAGGCGTGAGCCACCGCGCCCGGCC) n.4261-30_4261-29insACAGGCGTGAGCCACCGCGCCCGGCC c.4162-30_4162-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.4162-30_4162-29insACAGGCGTGAGCCACCGCGCCCGGCC) c.3067-30_3067-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.3067-30_3067-29insACAGGCGTGAGCCACCGCGCCCGGCC) c.2656-30_2656-29insACAGGCGTGAGCCACCGCGCCCGGCC (n.2656-30_2656-29insACAGGCGTGAGCCACCGCGCCCGGCC) n.4179-30_4179-29insACAGGCGTGAGCCACCGCGCCCGGCC | gnomAD v3 gnomAD v4 |
5 | g.13866312A>G | CA2765350414 | DNAH5 | c.4054-30T>C (n.4054-30T>C) c.4009-30T>C (n.4009-30T>C) n.4261-30T>C c.4162-30T>C (n.4162-30T>C) c.3067-30T>C (n.3067-30T>C) c.2656-30T>C (n.2656-30T>C) n.4179-30T>C | |
5 | g.13866313del | CA804500042 | DNAH5 | c.4054-30del (n.4054-30del) c.4009-30del (n.4009-30del) n.4261-30del c.4162-30del (n.4162-30del) c.3067-30del (n.3067-30del) c.2656-30del (n.2656-30del) n.4179-30del | dbSNP gnomAD v3 gnomAD v4 |