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.13770907del | CA273615 | DNAH5 | c.9449del (p.Gly3150AlafsTer24) c.9404del (p.Gly3135AlafsTer24) n.161del c.9557del (p.Gly3186AlafsTer24) c.8462del (p.Gly2821AlafsTer24) c.4646del (p.Gly1549AlafsTer24) c.4199del (p.Gly1400AlafsTer24) c.3536del (p.Gly1179AlafsTer24) c.8051del (p.Gly2684AlafsTer24) | ClinVar dbSNP |
| 5 | g.13770907C>A | CA359204981 | DNAH5 | c.9447G>T (p.Met3149Ile) c.9402G>T (p.Met3134Ile) n.159G>T c.9555G>T (p.Met3185Ile) c.8460G>T (p.Met2820Ile) c.4644G>T (p.Met1548Ile) c.4197G>T (p.Met1399Ile) c.3534G>T (p.Met1178Ile) c.8049G>T (p.Met2683Ile) | |
| 5 | g.13770907C>G | CA359204983 | DNAH5 | c.9447G>C (p.Met3149Ile) c.9402G>C (p.Met3134Ile) n.159G>C c.9555G>C (p.Met3185Ile) c.8460G>C (p.Met2820Ile) c.4644G>C (p.Met1548Ile) c.4197G>C (p.Met1399Ile) c.3534G>C (p.Met1178Ile) c.8049G>C (p.Met2683Ile) | |
| 5 | g.13770907C>T | CA359204985 | DNAH5 | c.9447G>A (p.Met3149Ile) c.9402G>A (p.Met3134Ile) n.159G>A c.9555G>A (p.Met3185Ile) c.8460G>A (p.Met2820Ile) c.4644G>A (p.Met1548Ile) c.4197G>A (p.Met1399Ile) c.3534G>A (p.Met1178Ile) c.8049G>A (p.Met2683Ile) | gnomAD v4 |
| 5 | g.13770908A>C | CA359204988 | DNAH5 | c.9446T>G (p.Met3149Arg) c.9401T>G (p.Met3134Arg) n.158T>G c.9554T>G (p.Met3185Arg) c.8459T>G (p.Met2820Arg) c.4643T>G (p.Met1548Arg) c.4196T>G (p.Met1399Arg) c.3533T>G (p.Met1178Arg) c.8048T>G (p.Met2683Arg) | |
| 5 | g.13770908A>G | CA359204990 | DNAH5 | c.9446T>C (p.Met3149Thr) c.9401T>C (p.Met3134Thr) n.158T>C c.9554T>C (p.Met3185Thr) c.8459T>C (p.Met2820Thr) c.4643T>C (p.Met1548Thr) c.4196T>C (p.Met1399Thr) c.3533T>C (p.Met1178Thr) c.8048T>C (p.Met2683Thr) | |
| 5 | g.13770908A>T | CA359204999 | DNAH5 | c.9446T>A (p.Met3149Lys) c.9401T>A (p.Met3134Lys) n.158T>A c.9554T>A (p.Met3185Lys) c.8459T>A (p.Met2820Lys) c.4643T>A (p.Met1548Lys) c.4196T>A (p.Met1399Lys) c.3533T>A (p.Met1178Lys) c.8048T>A (p.Met2683Lys) | |
| 5 | g.13770909T>A | CA359205007 | DNAH5 | c.9445A>T (p.Met3149Leu) c.9400A>T (p.Met3134Leu) n.157A>T c.9553A>T (p.Met3185Leu) c.8458A>T (p.Met2820Leu) c.4642A>T (p.Met1548Leu) c.4195A>T (p.Met1399Leu) c.3532A>T (p.Met1178Leu) c.8047A>T (p.Met2683Leu) | gnomAD v4 |
| 5 | g.13770909T>C | CA359205005 | DNAH5 | c.9445A>G (p.Met3149Val) c.9400A>G (p.Met3134Val) n.157A>G c.9553A>G (p.Met3185Val) c.8458A>G (p.Met2820Val) c.4642A>G (p.Met1548Val) c.4195A>G (p.Met1399Val) c.3532A>G (p.Met1178Val) c.8047A>G (p.Met2683Val) | |
| 5 | g.13770909T>G | CA359205002 | DNAH5 | c.9445A>C (p.Met3149Leu) c.9400A>C (p.Met3134Leu) n.157A>C c.9553A>C (p.Met3185Leu) c.8458A>C (p.Met2820Leu) c.4642A>C (p.Met1548Leu) c.4195A>C (p.Met1399Leu) c.3532A>C (p.Met1178Leu) c.8047A>C (p.Met2683Leu) | |
| 5 | g.13770910G>A | CA3202543 | DNAH5 | c.9444C>T (p.Cys3148=) c.9399C>T (p.Cys3133=) n.156C>T c.9552C>T (p.Cys3184=) c.8457C>T (p.Cys2819=) c.4641C>T (p.Cys1547=) c.4194C>T (p.Cys1398=) c.3531C>T (p.Cys1177=) c.8046C>T (p.Cys2682=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13770910G>C | CA359205015 | DNAH5 | c.9444C>G (p.Cys3148Trp) c.9399C>G (p.Cys3133Trp) n.156C>G c.9552C>G (p.Cys3184Trp) c.8457C>G (p.Cys2819Trp) c.4641C>G (p.Cys1547Trp) c.4194C>G (p.Cys1398Trp) c.3531C>G (p.Cys1177Trp) c.8046C>G (p.Cys2682Trp) | gnomAD v4 |
| 5 | g.13770910G= | CA1528431234 | DNAH5 | c.9444C= (p.Cys3148=) c.9399C= (p.Cys3133=) n.156C= c.9552C= (p.Cys3184=) c.8457C= (p.Cys2819=) c.4641C= (p.Cys1547=) c.4194C= (p.Cys1398=) c.3531C= (p.Cys1177=) c.8046C= (p.Cys2682=) | |
| 5 | g.13770910G>T | CA359205019 | DNAH5 | c.9444C>A (p.Cys3148Ter) c.9399C>A (p.Cys3133Ter) n.156C>A c.9552C>A (p.Cys3184Ter) c.8457C>A (p.Cys2819Ter) c.4641C>A (p.Cys1547Ter) c.4194C>A (p.Cys1398Ter) c.3531C>A (p.Cys1177Ter) c.8046C>A (p.Cys2682Ter) | |
| 5 | g.13770911C>A | CA359205020 | DNAH5 | c.9443G>T (p.Cys3148Phe) c.9398G>T (p.Cys3133Phe) n.155G>T c.9551G>T (p.Cys3184Phe) c.8456G>T (p.Cys2819Phe) c.4640G>T (p.Cys1547Phe) c.4193G>T (p.Cys1398Phe) c.3530G>T (p.Cys1177Phe) c.8045G>T (p.Cys2682Phe) | gnomAD v4 |
| 5 | g.13770911C>G | CA359205023 | DNAH5 | c.9443G>C (p.Cys3148Ser) c.9398G>C (p.Cys3133Ser) n.155G>C c.9551G>C (p.Cys3184Ser) c.8456G>C (p.Cys2819Ser) c.4640G>C (p.Cys1547Ser) c.4193G>C (p.Cys1398Ser) c.3530G>C (p.Cys1177Ser) c.8045G>C (p.Cys2682Ser) | |
| 5 | g.13770911C>T | CA359205026 | DNAH5 | c.9443G>A (p.Cys3148Tyr) c.9398G>A (p.Cys3133Tyr) n.155G>A c.9551G>A (p.Cys3184Tyr) c.8456G>A (p.Cys2819Tyr) c.4640G>A (p.Cys1547Tyr) c.4193G>A (p.Cys1398Tyr) c.3530G>A (p.Cys1177Tyr) c.8045G>A (p.Cys2682Tyr) | |
| 5 | g.13770912A>C | CA359205027 | DNAH5 | c.9442T>G (p.Cys3148Gly) c.9397T>G (p.Cys3133Gly) n.154T>G c.9550T>G (p.Cys3184Gly) c.8455T>G (p.Cys2819Gly) c.4639T>G (p.Cys1547Gly) c.4192T>G (p.Cys1398Gly) c.3529T>G (p.Cys1177Gly) c.8044T>G (p.Cys2682Gly) | |
| 5 | g.13770912A>G | CA359205028 | DNAH5 | c.9442T>C (p.Cys3148Arg) c.9397T>C (p.Cys3133Arg) n.154T>C c.9550T>C (p.Cys3184Arg) c.8455T>C (p.Cys2819Arg) c.4639T>C (p.Cys1547Arg) c.4192T>C (p.Cys1398Arg) c.3529T>C (p.Cys1177Arg) c.8044T>C (p.Cys2682Arg) | |
| 5 | g.13770912A>T | CA359205030 | DNAH5 | c.9442T>A (p.Cys3148Ser) c.9397T>A (p.Cys3133Ser) n.154T>A c.9550T>A (p.Cys3184Ser) c.8455T>A (p.Cys2819Ser) c.4639T>A (p.Cys1547Ser) c.4192T>A (p.Cys1398Ser) c.3529T>A (p.Cys1177Ser) c.8044T>A (p.Cys2682Ser) | |
| 5 | g.13770913T>A | CA359205032 | DNAH5 | c.9441A>T (p.Gln3147His) c.9396A>T (p.Gln3132His) n.153A>T c.9549A>T (p.Gln3183His) c.8454A>T (p.Gln2818His) c.4638A>T (p.Gln1546His) c.4191A>T (p.Gln1397His) c.3528A>T (p.Gln1176His) c.8043A>T (p.Gln2681His) | |
| 5 | g.13770913T>C | CA443535710 | DNAH5 | c.9441A>G (p.Gln3147=) c.9396A>G (p.Gln3132=) n.153A>G c.9549A>G (p.Gln3183=) c.8454A>G (p.Gln2818=) c.4638A>G (p.Gln1546=) c.4191A>G (p.Gln1397=) c.3528A>G (p.Gln1176=) c.8043A>G (p.Gln2681=) | gnomAD v4 |
| 5 | g.13770913T>G | CA359205034 | DNAH5 | c.9441A>C (p.Gln3147His) c.9396A>C (p.Gln3132His) n.153A>C c.9549A>C (p.Gln3183His) c.8454A>C (p.Gln2818His) c.4638A>C (p.Gln1546His) c.4191A>C (p.Gln1397His) c.3528A>C (p.Gln1176His) c.8043A>C (p.Gln2681His) | |
| 5 | g.13770914T>A | CA359205037 | DNAH5 | c.9440A>T (p.Gln3147Leu) c.9395A>T (p.Gln3132Leu) n.152A>T c.9548A>T (p.Gln3183Leu) c.8453A>T (p.Gln2818Leu) c.4637A>T (p.Gln1546Leu) c.4190A>T (p.Gln1397Leu) c.3527A>T (p.Gln1176Leu) c.8042A>T (p.Gln2681Leu) | |
| 5 | g.13770914T>C | CA359205038 | DNAH5 | c.9440A>G (p.Gln3147Arg) c.9395A>G (p.Gln3132Arg) n.152A>G c.9548A>G (p.Gln3183Arg) c.8453A>G (p.Gln2818Arg) c.4637A>G (p.Gln1546Arg) c.4190A>G (p.Gln1397Arg) c.3527A>G (p.Gln1176Arg) c.8042A>G (p.Gln2681Arg) | |
| 5 | g.13770914T>G | CA359205041 | DNAH5 | c.9440A>C (p.Gln3147Pro) c.9395A>C (p.Gln3132Pro) n.152A>C c.9548A>C (p.Gln3183Pro) c.8453A>C (p.Gln2818Pro) c.4637A>C (p.Gln1546Pro) c.4190A>C (p.Gln1397Pro) c.3527A>C (p.Gln1176Pro) c.8042A>C (p.Gln2681Pro) | |
| 5 | g.13770915G>A | CA359205047 | DNAH5 | c.9439C>T (p.Gln3147Ter) c.9394C>T (p.Gln3132Ter) n.151C>T c.9547C>T (p.Gln3183Ter) c.8452C>T (p.Gln2818Ter) c.4636C>T (p.Gln1546Ter) c.4189C>T (p.Gln1397Ter) c.3526C>T (p.Gln1176Ter) c.8041C>T (p.Gln2681Ter) | COSMIC |
| 5 | g.13770915G>C | CA359205054 | DNAH5 | c.9439C>G (p.Gln3147Glu) c.9394C>G (p.Gln3132Glu) n.151C>G c.9547C>G (p.Gln3183Glu) c.8452C>G (p.Gln2818Glu) c.4636C>G (p.Gln1546Glu) c.4189C>G (p.Gln1397Glu) c.3526C>G (p.Gln1176Glu) c.8041C>G (p.Gln2681Glu) | |
| 5 | g.13770915G>T | CA359205044 | DNAH5 | c.9439C>A (p.Gln3147Lys) c.9394C>A (p.Gln3132Lys) n.151C>A c.9547C>A (p.Gln3183Lys) c.8452C>A (p.Gln2818Lys) c.4636C>A (p.Gln1546Lys) c.4189C>A (p.Gln1397Lys) c.3526C>A (p.Gln1176Lys) c.8041C>A (p.Gln2681Lys) | |
| 5 | g.13770916G>A | CA443535719 | DNAH5 | c.9438C>T (p.Val3146=) c.9393C>T (p.Val3131=) n.150C>T c.9546C>T (p.Val3182=) c.8451C>T (p.Val2817=) c.4635C>T (p.Val1545=) c.4188C>T (p.Val1396=) c.3525C>T (p.Val1175=) c.8040C>T (p.Val2680=) | |
| 5 | g.13770916G>C | CA443535720 | DNAH5 | c.9438C>G (p.Val3146=) c.9393C>G (p.Val3131=) n.150C>G c.9546C>G (p.Val3182=) c.8451C>G (p.Val2817=) c.4635C>G (p.Val1545=) c.4188C>G (p.Val1396=) c.3525C>G (p.Val1175=) c.8040C>G (p.Val2680=) | |
| 5 | g.13770916G>T | CA443535721 | DNAH5 | c.9438C>A (p.Val3146=) c.9393C>A (p.Val3131=) n.150C>A c.9546C>A (p.Val3182=) c.8451C>A (p.Val2817=) c.4635C>A (p.Val1545=) c.4188C>A (p.Val1396=) c.3525C>A (p.Val1175=) c.8040C>A (p.Val2680=) | |
| 5 | g.13770917A= | CA1528431235 | DNAH5 | c.9437T= (p.Val3146=) c.9392T= (p.Val3131=) n.149T= c.9545T= (p.Val3182=) c.8450T= (p.Val2817=) c.4634T= (p.Val1545=) c.4187T= (p.Val1396=) c.3524T= (p.Val1175=) c.8039T= (p.Val2680=) | |
| 5 | g.13770917A>C | CA359205057 | DNAH5 | c.9437T>G (p.Val3146Gly) c.9392T>G (p.Val3131Gly) n.149T>G c.9545T>G (p.Val3182Gly) c.8450T>G (p.Val2817Gly) c.4634T>G (p.Val1545Gly) c.4187T>G (p.Val1396Gly) c.3524T>G (p.Val1175Gly) c.8039T>G (p.Val2680Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13770917A>G | CA359205069 | DNAH5 | c.9437T>C (p.Val3146Ala) c.9392T>C (p.Val3131Ala) n.149T>C c.9545T>C (p.Val3182Ala) c.8450T>C (p.Val2817Ala) c.4634T>C (p.Val1545Ala) c.4187T>C (p.Val1396Ala) c.3524T>C (p.Val1175Ala) c.8039T>C (p.Val2680Ala) | |
| 5 | g.13770917A>T | CA359205073 | DNAH5 | c.9437T>A (p.Val3146Asp) c.9392T>A (p.Val3131Asp) n.149T>A c.9545T>A (p.Val3182Asp) c.8450T>A (p.Val2817Asp) c.4634T>A (p.Val1545Asp) c.4187T>A (p.Val1396Asp) c.3524T>A (p.Val1175Asp) c.8039T>A (p.Val2680Asp) | |
| 5 | g.13770918C>A | CA359205077 | DNAH5 | c.9436G>T (p.Val3146Phe) c.9391G>T (p.Val3131Phe) n.148G>T c.9544G>T (p.Val3182Phe) c.8449G>T (p.Val2817Phe) c.4633G>T (p.Val1545Phe) c.4186G>T (p.Val1396Phe) c.3523G>T (p.Val1175Phe) c.8038G>T (p.Val2680Phe) | |
| 5 | g.13770918C>G | CA359205079 | DNAH5 | c.9436G>C (p.Val3146Leu) c.9391G>C (p.Val3131Leu) n.148G>C c.9544G>C (p.Val3182Leu) c.8449G>C (p.Val2817Leu) c.4633G>C (p.Val1545Leu) c.4186G>C (p.Val1396Leu) c.3523G>C (p.Val1175Leu) c.8038G>C (p.Val2680Leu) | |
| 5 | g.13770918C>T | CA359205081 | DNAH5 | c.9436G>A (p.Val3146Ile) c.9391G>A (p.Val3131Ile) n.148G>A c.9544G>A (p.Val3182Ile) c.8449G>A (p.Val2817Ile) c.4633G>A (p.Val1545Ile) c.4186G>A (p.Val1396Ile) c.3523G>A (p.Val1175Ile) c.8038G>A (p.Val2680Ile) | COSMIC |
| 5 | g.13770919C>A | CA443535731 | DNAH5 | c.9435G>T (p.Val3145=) c.9390G>T (p.Val3130=) n.147G>T c.9543G>T (p.Val3181=) c.8448G>T (p.Val2816=) c.4632G>T (p.Val1544=) c.4185G>T (p.Val1395=) c.3522G>T (p.Val1174=) c.8037G>T (p.Val2679=) | |
| 5 | g.13770919C>G | CA443535734 | DNAH5 | c.9435G>C (p.Val3145=) c.9390G>C (p.Val3130=) n.147G>C c.9543G>C (p.Val3181=) c.8448G>C (p.Val2816=) c.4632G>C (p.Val1544=) c.4185G>C (p.Val1395=) c.3522G>C (p.Val1174=) c.8037G>C (p.Val2679=) | |
| 5 | g.13770919C>T | CA443535737 | DNAH5 | c.9435G>A (p.Val3145=) c.9390G>A (p.Val3130=) n.147G>A c.9543G>A (p.Val3181=) c.8448G>A (p.Val2816=) c.4632G>A (p.Val1544=) c.4185G>A (p.Val1395=) c.3522G>A (p.Val1174=) c.8037G>A (p.Val2679=) | |
| 5 | g.13770920A>C | CA359205092 | DNAH5 | c.9434T>G (p.Val3145Gly) c.9389T>G (p.Val3130Gly) n.146T>G c.9542T>G (p.Val3181Gly) c.8447T>G (p.Val2816Gly) c.4631T>G (p.Val1544Gly) c.4184T>G (p.Val1395Gly) c.3521T>G (p.Val1174Gly) c.8036T>G (p.Val2679Gly) | |
| 5 | g.13770920A>G | CA359205086 | DNAH5 | c.9434T>C (p.Val3145Ala) c.9389T>C (p.Val3130Ala) n.146T>C c.9542T>C (p.Val3181Ala) c.8447T>C (p.Val2816Ala) c.4631T>C (p.Val1544Ala) c.4184T>C (p.Val1395Ala) c.3521T>C (p.Val1174Ala) c.8036T>C (p.Val2679Ala) | |
| 5 | g.13770920A>T | CA359205088 | DNAH5 | c.9434T>A (p.Val3145Glu) c.9389T>A (p.Val3130Glu) n.146T>A c.9542T>A (p.Val3181Glu) c.8447T>A (p.Val2816Glu) c.4631T>A (p.Val1544Glu) c.4184T>A (p.Val1395Glu) c.3521T>A (p.Val1174Glu) c.8036T>A (p.Val2679Glu) | |
| 5 | g.13770921C>A | CA359205095 | DNAH5 | c.9433G>T (p.Val3145Leu) c.9388G>T (p.Val3130Leu) n.145G>T c.9541G>T (p.Val3181Leu) c.8446G>T (p.Val2816Leu) c.4630G>T (p.Val1544Leu) c.4183G>T (p.Val1395Leu) c.3520G>T (p.Val1174Leu) c.8035G>T (p.Val2679Leu) | |
| 5 | g.13770921C>G | CA359205100 | DNAH5 | c.9433G>C (p.Val3145Leu) c.9388G>C (p.Val3130Leu) n.145G>C c.9541G>C (p.Val3181Leu) c.8446G>C (p.Val2816Leu) c.4630G>C (p.Val1544Leu) c.4183G>C (p.Val1395Leu) c.3520G>C (p.Val1174Leu) c.8035G>C (p.Val2679Leu) | |
| 5 | g.13770921C>T | CA359205102 | DNAH5 | c.9433G>A (p.Val3145Met) c.9388G>A (p.Val3130Met) n.145G>A c.9541G>A (p.Val3181Met) c.8446G>A (p.Val2816Met) c.4630G>A (p.Val1544Met) c.4183G>A (p.Val1395Met) c.3520G>A (p.Val1174Met) c.8035G>A (p.Val2679Met) | |
| 5 | g.13770922C>A | CA359205105 | DNAH5 | c.9432G>T (p.Glu3144Asp) c.9387G>T (p.Glu3129Asp) n.144G>T c.9540G>T (p.Glu3180Asp) c.8445G>T (p.Glu2815Asp) c.4629G>T (p.Glu1543Asp) c.4182G>T (p.Glu1394Asp) c.3519G>T (p.Glu1173Asp) c.8034G>T (p.Glu2678Asp) | |
| 5 | g.13770922C= | CA1528431236 | DNAH5 | c.9432G= (p.Glu3144=) c.9387G= (p.Glu3129=) n.144G= c.9540G= (p.Glu3180=) c.8445G= (p.Glu2815=) c.4629G= (p.Glu1543=) c.4182G= (p.Glu1394=) c.3519G= (p.Glu1173=) c.8034G= (p.Glu2678=) |