| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13776449del | CA16609697 | DNAH5 | c.9365del (p.Leu3122Ter) c.9320del (p.Leu3107Ter) c.9473del (p.Leu3158Ter) c.8378del (p.Leu2793Ter) c.4562del (p.Leu1521Ter) c.4115del (p.Leu1372Ter) c.3452del (p.Leu1151Ter) c.7967del (p.Leu2656Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776449A>C | CA443535645 | DNAH5 | c.9363T>G (p.Ala3121=) c.9318T>G (p.Ala3106=) c.9471T>G (p.Ala3157=) c.8376T>G (p.Ala2792=) c.4560T>G (p.Ala1520=) c.4113T>G (p.Ala1371=) c.3450T>G (p.Ala1150=) c.7965T>G (p.Ala2655=) | |
| 5 | g.13776449A>G | CA443535646 | DNAH5 | c.9363T>C (p.Ala3121=) c.9318T>C (p.Ala3106=) c.9471T>C (p.Ala3157=) c.8376T>C (p.Ala2792=) c.4560T>C (p.Ala1520=) c.4113T>C (p.Ala1371=) c.3450T>C (p.Ala1150=) c.7965T>C (p.Ala2655=) | |
| 5 | g.13776449A>T | CA443535648 | DNAH5 | c.9363T>A (p.Ala3121=) c.9318T>A (p.Ala3106=) c.9471T>A (p.Ala3157=) c.8376T>A (p.Ala2792=) c.4560T>A (p.Ala1520=) c.4113T>A (p.Ala1371=) c.3450T>A (p.Ala1150=) c.7965T>A (p.Ala2655=) | |
| 5 | g.13776450G>A | CA359207816 | DNAH5 | c.9362C>T (p.Ala3121Val) c.9317C>T (p.Ala3106Val) c.9470C>T (p.Ala3157Val) c.8375C>T (p.Ala2792Val) c.4559C>T (p.Ala1520Val) c.4112C>T (p.Ala1371Val) c.3449C>T (p.Ala1150Val) c.7964C>T (p.Ala2655Val) | gnomAD v4 |
| 5 | g.13776450G>C | CA359207819 | DNAH5 | c.9362C>G (p.Ala3121Gly) c.9317C>G (p.Ala3106Gly) c.9470C>G (p.Ala3157Gly) c.8375C>G (p.Ala2792Gly) c.4559C>G (p.Ala1520Gly) c.4112C>G (p.Ala1371Gly) c.3449C>G (p.Ala1150Gly) c.7964C>G (p.Ala2655Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776450G= | CA1528435027 | DNAH5 | c.9362C= (p.Ala3121=) c.9317C= (p.Ala3106=) c.9470C= (p.Ala3157=) c.8375C= (p.Ala2792=) c.4559C= (p.Ala1520=) c.4112C= (p.Ala1371=) c.3449C= (p.Ala1150=) c.7964C= (p.Ala2655=) | |
| 5 | g.13776450G>T | CA359207825 | DNAH5 | c.9362C>A (p.Ala3121Asp) c.9317C>A (p.Ala3106Asp) c.9470C>A (p.Ala3157Asp) c.8375C>A (p.Ala2792Asp) c.4559C>A (p.Ala1520Asp) c.4112C>A (p.Ala1371Asp) c.3449C>A (p.Ala1150Asp) c.7964C>A (p.Ala2655Asp) | |
| 5 | g.13776451C>A | CA359207829 | DNAH5 | c.9361G>T (p.Ala3121Ser) c.9316G>T (p.Ala3106Ser) c.9469G>T (p.Ala3157Ser) c.8374G>T (p.Ala2792Ser) c.4558G>T (p.Ala1520Ser) c.4111G>T (p.Ala1371Ser) c.3448G>T (p.Ala1150Ser) c.7963G>T (p.Ala2655Ser) | |
| 5 | g.13776451C>G | CA359207833 | DNAH5 | c.9361G>C (p.Ala3121Pro) c.9316G>C (p.Ala3106Pro) c.9469G>C (p.Ala3157Pro) c.8374G>C (p.Ala2792Pro) c.4558G>C (p.Ala1520Pro) c.4111G>C (p.Ala1371Pro) c.3448G>C (p.Ala1150Pro) c.7963G>C (p.Ala2655Pro) | |
| 5 | g.13776451C>T | CA359207836 | DNAH5 | c.9361G>A (p.Ala3121Thr) c.9316G>A (p.Ala3106Thr) c.9469G>A (p.Ala3157Thr) c.8374G>A (p.Ala2792Thr) c.4558G>A (p.Ala1520Thr) c.4111G>A (p.Ala1371Thr) c.3448G>A (p.Ala1150Thr) c.7963G>A (p.Ala2655Thr) | gnomAD v4 |
| 5 | g.13776452A>C | CA359207843 | DNAH5 | c.9360T>G (p.Asp3120Glu) c.9315T>G (p.Asp3105Glu) c.9468T>G (p.Asp3156Glu) c.8373T>G (p.Asp2791Glu) c.4557T>G (p.Asp1519Glu) c.4110T>G (p.Asp1370Glu) c.3447T>G (p.Asp1149Glu) c.7962T>G (p.Asp2654Glu) | |
| 5 | g.13776452A>G | CA443535650 | DNAH5 | c.9360T>C (p.Asp3120=) c.9315T>C (p.Asp3105=) c.9468T>C (p.Asp3156=) c.8373T>C (p.Asp2791=) c.4557T>C (p.Asp1519=) c.4110T>C (p.Asp1370=) c.3447T>C (p.Asp1149=) c.7962T>C (p.Asp2654=) | |
| 5 | g.13776452A>T | CA359207847 | DNAH5 | c.9360T>A (p.Asp3120Glu) c.9315T>A (p.Asp3105Glu) c.9468T>A (p.Asp3156Glu) c.8373T>A (p.Asp2791Glu) c.4557T>A (p.Asp1519Glu) c.4110T>A (p.Asp1370Glu) c.3447T>A (p.Asp1149Glu) c.7962T>A (p.Asp2654Glu) | |
| 5 | g.13776453T>A | CA359207866 | DNAH5 | c.9359A>T (p.Asp3120Val) c.9314A>T (p.Asp3105Val) c.9467A>T (p.Asp3156Val) c.8372A>T (p.Asp2791Val) c.4556A>T (p.Asp1519Val) c.4109A>T (p.Asp1370Val) c.3446A>T (p.Asp1149Val) c.7961A>T (p.Asp2654Val) | |
| 5 | g.13776453T>C | CA359207862 | DNAH5 | c.9359A>G (p.Asp3120Gly) c.9314A>G (p.Asp3105Gly) c.9467A>G (p.Asp3156Gly) c.8372A>G (p.Asp2791Gly) c.4556A>G (p.Asp1519Gly) c.4109A>G (p.Asp1370Gly) c.3446A>G (p.Asp1149Gly) c.7961A>G (p.Asp2654Gly) | dbSNP gnomAD v4 |
| 5 | g.13776453T>G | CA359207856 | DNAH5 | c.9359A>C (p.Asp3120Ala) c.9314A>C (p.Asp3105Ala) c.9467A>C (p.Asp3156Ala) c.8372A>C (p.Asp2791Ala) c.4556A>C (p.Asp1519Ala) c.4109A>C (p.Asp1370Ala) c.3446A>C (p.Asp1149Ala) c.7961A>C (p.Asp2654Ala) | |
| 5 | g.13776454C>A | CA359207873 | DNAH5 | c.9358G>T (p.Asp3120Tyr) c.9313G>T (p.Asp3105Tyr) c.9466G>T (p.Asp3156Tyr) c.8371G>T (p.Asp2791Tyr) c.4555G>T (p.Asp1519Tyr) c.4108G>T (p.Asp1370Tyr) c.3445G>T (p.Asp1149Tyr) c.7960G>T (p.Asp2654Tyr) | |
| 5 | g.13776454C>G | CA359207883 | DNAH5 | c.9358G>C (p.Asp3120His) c.9313G>C (p.Asp3105His) c.9466G>C (p.Asp3156His) c.8371G>C (p.Asp2791His) c.4555G>C (p.Asp1519His) c.4108G>C (p.Asp1370His) c.3445G>C (p.Asp1149His) c.7960G>C (p.Asp2654His) | gnomAD v4 |
| 5 | g.13776454C>T | CA359207886 | DNAH5 | c.9358G>A (p.Asp3120Asn) c.9313G>A (p.Asp3105Asn) c.9466G>A (p.Asp3156Asn) c.8371G>A (p.Asp2791Asn) c.4555G>A (p.Asp1519Asn) c.4108G>A (p.Asp1370Asn) c.3445G>A (p.Asp1149Asn) c.7960G>A (p.Asp2654Asn) | |
| 5 | g.13776455T>A | CA359207890 | DNAH5 | c.9357A>T (p.Lys3119Asn) c.9312A>T (p.Lys3104Asn) c.9465A>T (p.Lys3155Asn) c.8370A>T (p.Lys2790Asn) c.4554A>T (p.Lys1518Asn) c.4107A>T (p.Lys1369Asn) c.3444A>T (p.Lys1148Asn) c.7959A>T (p.Lys2653Asn) | |
| 5 | g.13776455T>C | CA443535655 | DNAH5 | c.9357A>G (p.Lys3119=) c.9312A>G (p.Lys3104=) c.9465A>G (p.Lys3155=) c.8370A>G (p.Lys2790=) c.4554A>G (p.Lys1518=) c.4107A>G (p.Lys1369=) c.3444A>G (p.Lys1148=) c.7959A>G (p.Lys2653=) | gnomAD v4 |
| 5 | g.13776455T>G | CA359207899 | DNAH5 | c.9357A>C (p.Lys3119Asn) c.9312A>C (p.Lys3104Asn) c.9465A>C (p.Lys3155Asn) c.8370A>C (p.Lys2790Asn) c.4554A>C (p.Lys1518Asn) c.4107A>C (p.Lys1369Asn) c.3444A>C (p.Lys1148Asn) c.7959A>C (p.Lys2653Asn) | gnomAD v4 |
| 5 | g.13776456T>A | CA359207900 | DNAH5 | c.9356A>T (p.Lys3119Ile) c.9311A>T (p.Lys3104Ile) c.9464A>T (p.Lys3155Ile) c.8369A>T (p.Lys2790Ile) c.4553A>T (p.Lys1518Ile) c.4106A>T (p.Lys1369Ile) c.3443A>T (p.Lys1148Ile) c.7958A>T (p.Lys2653Ile) | |
| 5 | g.13776456T>C | CA359207901 | DNAH5 | c.9356A>G (p.Lys3119Arg) c.9311A>G (p.Lys3104Arg) c.9464A>G (p.Lys3155Arg) c.8369A>G (p.Lys2790Arg) c.4553A>G (p.Lys1518Arg) c.4106A>G (p.Lys1369Arg) c.3443A>G (p.Lys1148Arg) c.7958A>G (p.Lys2653Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776456T>G | CA359207906 | DNAH5 | c.9356A>C (p.Lys3119Thr) c.9311A>C (p.Lys3104Thr) c.9464A>C (p.Lys3155Thr) c.8369A>C (p.Lys2790Thr) c.4553A>C (p.Lys1518Thr) c.4106A>C (p.Lys1369Thr) c.3443A>C (p.Lys1148Thr) c.7958A>C (p.Lys2653Thr) | |
| 5 | g.13776456T= | CA1528435030 | DNAH5 | c.9356A= (p.Lys3119=) c.9311A= (p.Lys3104=) c.9464A= (p.Lys3155=) c.8369A= (p.Lys2790=) c.4553A= (p.Lys1518=) c.4106A= (p.Lys1369=) c.3443A= (p.Lys1148=) c.7958A= (p.Lys2653=) | |
| 5 | g.13776457T>A | CA359207908 | DNAH5 | c.9355A>T (p.Lys3119Ter) c.9310A>T (p.Lys3104Ter) c.9463A>T (p.Lys3155Ter) c.8368A>T (p.Lys2790Ter) c.4552A>T (p.Lys1518Ter) c.4105A>T (p.Lys1369Ter) c.3442A>T (p.Lys1148Ter) c.7957A>T (p.Lys2653Ter) | |
| 5 | g.13776457T>C | CA203173 | DNAH5 | c.9355A>G (p.Lys3119Glu) c.9310A>G (p.Lys3104Glu) c.9463A>G (p.Lys3155Glu) c.8368A>G (p.Lys2790Glu) c.4552A>G (p.Lys1518Glu) c.4105A>G (p.Lys1369Glu) c.3442A>G (p.Lys1148Glu) c.7957A>G (p.Lys2653Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776457T>G | CA359207923 | DNAH5 | c.9355A>C (p.Lys3119Gln) c.9310A>C (p.Lys3104Gln) c.9463A>C (p.Lys3155Gln) c.8368A>C (p.Lys2790Gln) c.4552A>C (p.Lys1518Gln) c.4105A>C (p.Lys1369Gln) c.3442A>C (p.Lys1148Gln) c.7957A>C (p.Lys2653Gln) | |
| 5 | g.13776457T= | CA1528435035 | DNAH5 | c.9355A= (p.Lys3119=) c.9310A= (p.Lys3104=) c.9463A= (p.Lys3155=) c.8368A= (p.Lys2790=) c.4552A= (p.Lys1518=) c.4105A= (p.Lys1369=) c.3442A= (p.Lys1148=) c.7957A= (p.Lys2653=) | |
| 5 | g.13776458G>A | CA443535664 | DNAH5 | c.9354C>T (p.Pro3118=) c.9309C>T (p.Pro3103=) c.9462C>T (p.Pro3154=) c.8367C>T (p.Pro2789=) c.4551C>T (p.Pro1517=) c.4104C>T (p.Pro1368=) c.3441C>T (p.Pro1147=) c.7956C>T (p.Pro2652=) | |
| 5 | g.13776458G>C | CA443535666 | DNAH5 | c.9354C>G (p.Pro3118=) c.9309C>G (p.Pro3103=) c.9462C>G (p.Pro3154=) c.8367C>G (p.Pro2789=) c.4551C>G (p.Pro1517=) c.4104C>G (p.Pro1368=) c.3441C>G (p.Pro1147=) c.7956C>G (p.Pro2652=) | |
| 5 | g.13776458G>T | CA443535667 | DNAH5 | c.9354C>A (p.Pro3118=) c.9309C>A (p.Pro3103=) c.9462C>A (p.Pro3154=) c.8367C>A (p.Pro2789=) c.4551C>A (p.Pro1517=) c.4104C>A (p.Pro1368=) c.3441C>A (p.Pro1147=) c.7956C>A (p.Pro2652=) | |
| 5 | g.13776460dup | CA2739274613 | DNAH5 | c.9354dup (p.Lys3119GlnfsTer9) c.9309dup (p.Lys3104GlnfsTer9) c.9462dup (p.Lys3155GlnfsTer9) c.8367dup (p.Lys2790GlnfsTer9) c.4551dup (p.Lys1518GlnfsTer9) c.4104dup (p.Lys1369GlnfsTer9) c.3441dup (p.Lys1148GlnfsTer9) c.7956dup (p.Lys2653GlnfsTer9) | ClinVar |
| 5 | g.13776459G>A | CA359207928 | DNAH5 | c.9353C>T (p.Pro3118Leu) c.9308C>T (p.Pro3103Leu) c.9461C>T (p.Pro3154Leu) c.8366C>T (p.Pro2789Leu) c.4550C>T (p.Pro1517Leu) c.4103C>T (p.Pro1368Leu) c.3440C>T (p.Pro1147Leu) c.7955C>T (p.Pro2652Leu) | COSMIC |
| 5 | g.13776459G>C | CA359207929 | DNAH5 | c.9353C>G (p.Pro3118Arg) c.9308C>G (p.Pro3103Arg) c.9461C>G (p.Pro3154Arg) c.8366C>G (p.Pro2789Arg) c.4550C>G (p.Pro1517Arg) c.4103C>G (p.Pro1368Arg) c.3440C>G (p.Pro1147Arg) c.7955C>G (p.Pro2652Arg) | |
| 5 | g.13776459G>T | CA359207930 | DNAH5 | c.9353C>A (p.Pro3118His) c.9308C>A (p.Pro3103His) c.9461C>A (p.Pro3154His) c.8366C>A (p.Pro2789His) c.4550C>A (p.Pro1517His) c.4103C>A (p.Pro1368His) c.3440C>A (p.Pro1147His) c.7955C>A (p.Pro2652His) | gnomAD v4 |
| 5 | g.13776460G>A | CA359207932 | DNAH5 | c.9352C>T (p.Pro3118Ser) c.9307C>T (p.Pro3103Ser) c.9460C>T (p.Pro3154Ser) c.8365C>T (p.Pro2789Ser) c.4549C>T (p.Pro1517Ser) c.4102C>T (p.Pro1368Ser) c.3439C>T (p.Pro1147Ser) c.7954C>T (p.Pro2652Ser) | gnomAD v4 |
| 5 | g.13776460G>C | CA359207933 | DNAH5 | c.9352C>G (p.Pro3118Ala) c.9307C>G (p.Pro3103Ala) c.9460C>G (p.Pro3154Ala) c.8365C>G (p.Pro2789Ala) c.4549C>G (p.Pro1517Ala) c.4102C>G (p.Pro1368Ala) c.3439C>G (p.Pro1147Ala) c.7954C>G (p.Pro2652Ala) | |
| 5 | g.13776460G>T | CA359207931 | DNAH5 | c.9352C>A (p.Pro3118Thr) c.9307C>A (p.Pro3103Thr) c.9460C>A (p.Pro3154Thr) c.8365C>A (p.Pro2789Thr) c.4549C>A (p.Pro1517Thr) c.4102C>A (p.Pro1368Thr) c.3439C>A (p.Pro1147Thr) c.7954C>A (p.Pro2652Thr) | |
| 5 | g.13776461C>A | CA359207934 | DNAH5 | c.9351G>T (p.Trp3117Cys) c.9306G>T (p.Trp3102Cys) c.9459G>T (p.Trp3153Cys) c.8364G>T (p.Trp2788Cys) c.4548G>T (p.Trp1516Cys) c.4101G>T (p.Trp1367Cys) c.3438G>T (p.Trp1146Cys) c.7953G>T (p.Trp2651Cys) | |
| 5 | g.13776461C>G | CA359207936 | DNAH5 | c.9351G>C (p.Trp3117Cys) c.9306G>C (p.Trp3102Cys) c.9459G>C (p.Trp3153Cys) c.8364G>C (p.Trp2788Cys) c.4548G>C (p.Trp1516Cys) c.4101G>C (p.Trp1367Cys) c.3438G>C (p.Trp1146Cys) c.7953G>C (p.Trp2651Cys) | |
| 5 | g.13776461C>T | CA359207940 | DNAH5 | c.9351G>A (p.Trp3117Ter) c.9306G>A (p.Trp3102Ter) c.9459G>A (p.Trp3153Ter) c.8364G>A (p.Trp2788Ter) c.4548G>A (p.Trp1516Ter) c.4101G>A (p.Trp1367Ter) c.3438G>A (p.Trp1146Ter) c.7953G>A (p.Trp2651Ter) | gnomAD v4 |
| 5 | g.13776462C>A | CA359207943 | DNAH5 | c.9350G>T (p.Trp3117Leu) c.9305G>T (p.Trp3102Leu) c.9458G>T (p.Trp3153Leu) c.8363G>T (p.Trp2788Leu) c.4547G>T (p.Trp1516Leu) c.4100G>T (p.Trp1367Leu) c.3437G>T (p.Trp1146Leu) c.7952G>T (p.Trp2651Leu) | |
| 5 | g.13776462C>G | CA359207946 | DNAH5 | c.9350G>C (p.Trp3117Ser) c.9305G>C (p.Trp3102Ser) c.9458G>C (p.Trp3153Ser) c.8363G>C (p.Trp2788Ser) c.4547G>C (p.Trp1516Ser) c.4100G>C (p.Trp1367Ser) c.3437G>C (p.Trp1146Ser) c.7952G>C (p.Trp2651Ser) | |
| 5 | g.13776462C>T | CA359207950 | DNAH5 | c.9350G>A (p.Trp3117Ter) c.9305G>A (p.Trp3102Ter) c.9458G>A (p.Trp3153Ter) c.8363G>A (p.Trp2788Ter) c.4547G>A (p.Trp1516Ter) c.4100G>A (p.Trp1367Ter) c.3437G>A (p.Trp1146Ter) c.7952G>A (p.Trp2651Ter) | |
| 5 | g.13776463A= | CA1528435042 | DNAH5 | c.9349T= (p.Trp3117=) c.9304T= (p.Trp3102=) c.9457T= (p.Trp3153=) c.8362T= (p.Trp2788=) c.4546T= (p.Trp1516=) c.4099T= (p.Trp1367=) c.3436T= (p.Trp1146=) c.7951T= (p.Trp2651=) | |
| 5 | g.13776463A>C | CA359207952 | DNAH5 | c.9349T>G (p.Trp3117Gly) c.9304T>G (p.Trp3102Gly) c.9457T>G (p.Trp3153Gly) c.8362T>G (p.Trp2788Gly) c.4546T>G (p.Trp1516Gly) c.4099T>G (p.Trp1367Gly) c.3436T>G (p.Trp1146Gly) c.7951T>G (p.Trp2651Gly) | |
| 5 | g.13776463A>G | CA3202577 | DNAH5 | c.9349T>C (p.Trp3117Arg) c.9304T>C (p.Trp3102Arg) c.9457T>C (p.Trp3153Arg) c.8362T>C (p.Trp2788Arg) c.4546T>C (p.Trp1516Arg) c.4099T>C (p.Trp1367Arg) c.3436T>C (p.Trp1146Arg) c.7951T>C (p.Trp2651Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |