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 |
|---|---|---|---|---|---|
| 9 | g.72805491G>A | CA10576754 | TMC1 | c.1676G>A (p.Trp559Ter) c.1238G>A (p.Trp413Ter) c.1550G>A (p.Trp517Ter) n.1819G>A n.300G>A c.2264G>A (p.Trp755Ter) c.1679G>A (p.Trp560Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.72805491G>C | CA373667742 | TMC1 | c.1676G>C (p.Trp559Ser) c.1238G>C (p.Trp413Ser) c.1550G>C (p.Trp517Ser) n.1819G>C n.300G>C c.2264G>C (p.Trp755Ser) c.1679G>C (p.Trp560Ser) | |
| 9 | g.72805491G= | CA1855113578 | TMC1 | c.1676G= (p.Trp559=) c.1238G= (p.Trp413=) c.1550G= (p.Trp517=) n.1819G= n.300G= c.2264G= (p.Trp755=) c.1679G= (p.Trp560=) | |
| 9 | g.72805491G>T | CA373667743 | TMC1 | c.1676G>T (p.Trp559Leu) c.1238G>T (p.Trp413Leu) c.1550G>T (p.Trp517Leu) n.1819G>T n.300G>T c.2264G>T (p.Trp755Leu) c.1679G>T (p.Trp560Leu) | |
| 9 | g.72805491_72805504delinsGGGACTTGGAGTAT | CA1855113579 | TMC1 | c.1676_1689delinsGGGACTTGGAGTAT (p.Trp559=) c.1238_1251delinsGGGACTTGGAGTAT (p.Trp413=) c.1550_1563delinsGGGACTTGGAGTAT (p.Trp517=) n.1819_1832delinsGGGACTTGGAGTAT n.300_313delinsGGGACTTGGAGTAT c.2264_2277delinsGGGACTTGGAGTAT (p.Trp755=) c.1679_1692delinsGGGACTTGGAGTAT (p.Trp560=) | |
| 9 | g.72805492G>A | CA10576755 | TMC1 | c.1677G>A (p.Trp559Ter) c.1239G>A (p.Trp413Ter) c.1551G>A (p.Trp517Ter) n.1820G>A n.301G>A c.2265G>A (p.Trp755Ter) c.1680G>A (p.Trp560Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.72805492G>C | CA373667745 | TMC1 | c.1677G>C (p.Trp559Cys) c.1239G>C (p.Trp413Cys) c.1551G>C (p.Trp517Cys) n.1820G>C n.301G>C c.2265G>C (p.Trp755Cys) c.1680G>C (p.Trp560Cys) | |
| 9 | g.72805492G= | CA1855113580 | TMC1 | c.1677G= (p.Trp559=) c.1239G= (p.Trp413=) c.1551G= (p.Trp517=) n.1820G= n.301G= c.2265G= (p.Trp755=) c.1680G= (p.Trp560=) | |
| 9 | g.72805492G>T | CA373667744 | TMC1 | c.1677G>T (p.Trp559Cys) c.1239G>T (p.Trp413Cys) c.1551G>T (p.Trp517Cys) n.1820G>T n.301G>T c.2265G>T (p.Trp755Cys) c.1680G>T (p.Trp560Cys) | gnomAD v3 gnomAD v4 |
| 9 | g.72805495_72805507del | CA1125391096 | TMC1 | c.1680_1692del (p.Leu561IlefsTer16) c.1242_1254del (p.Leu415IlefsTer16) c.1242_1254del (p.Leu415IlefsTer?) c.1554_1566del (p.Leu519IlefsTer16) n.1823_1835del n.304_316del c.2268_2280del (p.Leu757IlefsTer16) c.1683_1695del (p.Leu562IlefsTer16) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.72805493G>A | CA5082010 | TMC1 | c.1678G>A (p.Asp560Asn) c.1240G>A (p.Asp414Asn) c.1552G>A (p.Asp518Asn) n.1821G>A n.302G>A c.2266G>A (p.Asp756Asn) c.1681G>A (p.Asp561Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.72805493G>C | CA373667746 | TMC1 | c.1678G>C (p.Asp560His) c.1240G>C (p.Asp414His) c.1552G>C (p.Asp518His) n.1821G>C n.302G>C c.2266G>C (p.Asp756His) c.1681G>C (p.Asp561His) | |
| 9 | g.72805493G= | CA1855113581 | TMC1 | c.1678G= (p.Asp560=) c.1240G= (p.Asp414=) c.1552G= (p.Asp518=) n.1821G= n.302G= c.2266G= (p.Asp756=) c.1681G= (p.Asp561=) | |
| 9 | g.72805493G>T | CA373667747 | TMC1 | c.1678G>T (p.Asp560Tyr) c.1240G>T (p.Asp414Tyr) c.1552G>T (p.Asp518Tyr) n.1821G>T n.302G>T c.2266G>T (p.Asp756Tyr) c.1681G>T (p.Asp561Tyr) | |
| 9 | g.72805494A= | CA1855113582 | TMC1 | c.1679A= (p.Asp560=) c.1241A= (p.Asp414=) c.1553A= (p.Asp518=) n.1822A= n.303A= c.2267A= (p.Asp756=) c.1682A= (p.Asp561=) | |
| 9 | g.72805494A>C | CA373667748 | TMC1 | c.1679A>C (p.Asp560Ala) c.1241A>C (p.Asp414Ala) c.1553A>C (p.Asp518Ala) n.1822A>C n.303A>C c.2267A>C (p.Asp756Ala) c.1682A>C (p.Asp561Ala) | |
| 9 | g.72805494A>G | CA373667749 | TMC1 | c.1679A>G (p.Asp560Gly) c.1241A>G (p.Asp414Gly) c.1553A>G (p.Asp518Gly) n.1822A>G n.303A>G c.2267A>G (p.Asp756Gly) c.1682A>G (p.Asp561Gly) | dbSNP |
| 9 | g.72805494A>T | CA5082011 | TMC1 | c.1679A>T (p.Asp560Val) c.1241A>T (p.Asp414Val) c.1553A>T (p.Asp518Val) n.1822A>T n.303A>T c.2267A>T (p.Asp756Val) c.1682A>T (p.Asp561Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.72805495C>A | CA373667750 | TMC1 | c.1680C>A (p.Asp560Glu) c.1242C>A (p.Asp414Glu) c.1554C>A (p.Asp518Glu) n.1823C>A n.304C>A c.2268C>A (p.Asp756Glu) c.1683C>A (p.Asp561Glu) | |
| 9 | g.72805495C= | CA1855113583 | TMC1 | c.1680C= (p.Asp560=) c.1242C= (p.Asp414=) c.1554C= (p.Asp518=) n.1823C= n.304C= c.2268C= (p.Asp756=) c.1683C= (p.Asp561=) | |
| 9 | g.72805495C>G | CA373667751 | TMC1 | c.1680C>G (p.Asp560Glu) c.1242C>G (p.Asp414Glu) c.1554C>G (p.Asp518Glu) n.1823C>G n.304C>G c.2268C>G (p.Asp756Glu) c.1683C>G (p.Asp561Glu) | |
| 9 | g.72805495C>T | CA5082012 | TMC1 | c.1680C>T (p.Asp560=) c.1242C>T (p.Asp414=) c.1554C>T (p.Asp518=) n.1823C>T n.304C>T c.2268C>T (p.Asp756=) c.1683C>T (p.Asp561=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.72805495_72805506delinsCTTGGAGTATGG | CA1855113584 | TMC1 | c.1680_1691delinsCTTGGAGTATGG (p.Asp560=) c.1242_1253delinsCTTGGAGTATGG (p.Asp414=) c.1554_1565delinsCTTGGAGTATGG (p.Asp518=) n.1823_1834delinsCTTGGAGTATGG n.304_315delinsCTTGGAGTATGG c.2268_2279delinsCTTGGAGTATGG (p.Asp756=) c.1683_1694delinsCTTGGAGTATGG (p.Asp561=) | |
| 9 | g.72805496T>A | CA373667752 | TMC1 | c.1681T>A (p.Leu561Met) c.1243T>A (p.Leu415Met) c.1555T>A (p.Leu519Met) n.1824T>A n.305T>A c.2269T>A (p.Leu757Met) c.1684T>A (p.Leu562Met) | gnomAD v4 |
| 9 | g.72805496T>C | CA193290465 | TMC1 | c.1681T>C (p.Leu561=) c.1243T>C (p.Leu415=) c.1555T>C (p.Leu519=) n.1824T>C n.305T>C c.2269T>C (p.Leu757=) c.1684T>C (p.Leu562=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.72805496T>G | CA373667753 | TMC1 | c.1681T>G (p.Leu561Val) c.1243T>G (p.Leu415Val) c.1555T>G (p.Leu519Val) n.1824T>G n.305T>G c.2269T>G (p.Leu757Val) c.1684T>G (p.Leu562Val) | |
| 9 | g.72805496T= | CA1855113585 | TMC1 | c.1681T= (p.Leu561=) c.1243T= (p.Leu415=) c.1555T= (p.Leu519=) n.1824T= n.305T= c.2269T= (p.Leu757=) c.1684T= (p.Leu562=) | |
| 9 | g.72805496_72805506del | CA588439393 | TMC1 | c.1681_1691del (p.Leu561IlefsTer?) c.1243_1253del (p.Leu415IlefsTer?) c.1243_1253del (p.Leu415IlefsTer27) c.1555_1565del (p.Leu519IlefsTer?) n.1824_1834del n.305_315del c.2269_2279del (p.Leu757IlefsTer?) c.1684_1694del (p.Leu562IlefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.72805497T>A | CA373667756 | TMC1 | c.1682T>A (p.Leu561Ter) c.1244T>A (p.Leu415Ter) c.1556T>A (p.Leu519Ter) n.1825T>A n.306T>A c.2270T>A (p.Leu757Ter) c.1685T>A (p.Leu562Ter) | |
| 9 | g.72805497T>C | CA373667755 | TMC1 | c.1682T>C (p.Leu561Ser) c.1244T>C (p.Leu415Ser) c.1556T>C (p.Leu519Ser) n.1825T>C n.306T>C c.2270T>C (p.Leu757Ser) c.1685T>C (p.Leu562Ser) | |
| 9 | g.72805497T>G | CA373667754 | TMC1 | c.1682T>G (p.Leu561Trp) c.1244T>G (p.Leu415Trp) c.1556T>G (p.Leu519Trp) n.1825T>G n.306T>G c.2270T>G (p.Leu757Trp) c.1685T>G (p.Leu562Trp) | dbSNP gnomAD v4 |
| 9 | g.72805497T= | CA1855113586 | TMC1 | c.1682T= (p.Leu561=) c.1244T= (p.Leu415=) c.1556T= (p.Leu519=) n.1825T= n.306T= c.2270T= (p.Leu757=) c.1685T= (p.Leu562=) | |
| 9 | g.72805498G>A | CA465185840 | TMC1 | c.1683G>A (p.Leu561=) c.1245G>A (p.Leu415=) c.1557G>A (p.Leu519=) n.1826G>A n.307G>A c.2271G>A (p.Leu757=) c.1686G>A (p.Leu562=) | |
| 9 | g.72805498G>C | CA373667757 | TMC1 | c.1683G>C (p.Leu561Phe) c.1245G>C (p.Leu415Phe) c.1557G>C (p.Leu519Phe) n.1826G>C n.307G>C c.2271G>C (p.Leu757Phe) c.1686G>C (p.Leu562Phe) | |
| 9 | g.72805498G>T | CA373667758 | TMC1 | c.1683G>T (p.Leu561Phe) c.1245G>T (p.Leu415Phe) c.1557G>T (p.Leu519Phe) n.1826G>T n.307G>T c.2271G>T (p.Leu757Phe) c.1686G>T (p.Leu562Phe) | |
| 9 | g.72805499G>A | CA373667759 | TMC1 | c.1684G>A (p.Glu562Lys) c.1246G>A (p.Glu416Lys) c.1558G>A (p.Glu520Lys) n.1827G>A n.308G>A c.2272G>A (p.Glu758Lys) c.1687G>A (p.Glu563Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.72805499G>C | CA373667761 | TMC1 | c.1684G>C (p.Glu562Gln) c.1246G>C (p.Glu416Gln) c.1558G>C (p.Glu520Gln) n.1827G>C n.308G>C c.2272G>C (p.Glu758Gln) c.1687G>C (p.Glu563Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.72805499G= | CA1855113587 | TMC1 | c.1684G= (p.Glu562=) c.1246G= (p.Glu416=) c.1558G= (p.Glu520=) n.1827G= n.308G= c.2272G= (p.Glu758=) c.1687G= (p.Glu563=) | |
| 9 | g.72805499G>T | CA373667760 | TMC1 | c.1684G>T (p.Glu562Ter) c.1246G>T (p.Glu416Ter) c.1558G>T (p.Glu520Ter) n.1827G>T n.308G>T c.2272G>T (p.Glu758Ter) c.1687G>T (p.Glu563Ter) | |
| 9 | g.72805500A>C | CA373667762 | TMC1 | c.1685A>C (p.Glu562Ala) c.1247A>C (p.Glu416Ala) c.1559A>C (p.Glu520Ala) n.1828A>C n.309A>C c.2273A>C (p.Glu758Ala) c.1688A>C (p.Glu563Ala) | |
| 9 | g.72805500A>G | CA373667763 | TMC1 | c.1685A>G (p.Glu562Gly) c.1247A>G (p.Glu416Gly) c.1559A>G (p.Glu520Gly) n.1828A>G n.309A>G c.2273A>G (p.Glu758Gly) c.1688A>G (p.Glu563Gly) | |
| 9 | g.72805500A>T | CA373667764 | TMC1 | c.1685A>T (p.Glu562Val) c.1247A>T (p.Glu416Val) c.1559A>T (p.Glu520Val) n.1828A>T n.309A>T c.2273A>T (p.Glu758Val) c.1688A>T (p.Glu563Val) | gnomAD v3 gnomAD v4 |
| 9 | g.72805501G>A | CA465185848 | TMC1 | c.1686G>A (p.Glu562=) c.1248G>A (p.Glu416=) c.1560G>A (p.Glu520=) n.1829G>A n.310G>A c.2274G>A (p.Glu758=) c.1689G>A (p.Glu563=) | |
| 9 | g.72805501G>C | CA373667765 | TMC1 | c.1686G>C (p.Glu562Asp) c.1248G>C (p.Glu416Asp) c.1560G>C (p.Glu520Asp) n.1829G>C n.310G>C c.2274G>C (p.Glu758Asp) c.1689G>C (p.Glu563Asp) | |
| 9 | g.72805501G>T | CA373667766 | TMC1 | c.1686G>T (p.Glu562Asp) c.1248G>T (p.Glu416Asp) c.1560G>T (p.Glu520Asp) n.1829G>T n.310G>T c.2274G>T (p.Glu758Asp) c.1689G>T (p.Glu563Asp) | |
| 9 | g.72805502T>A | CA373667767 | TMC1 | c.1687T>A (p.Tyr563Asn) c.1249T>A (p.Tyr417Asn) c.1561T>A (p.Tyr521Asn) n.1830T>A n.311T>A c.2275T>A (p.Tyr759Asn) c.1690T>A (p.Tyr564Asn) | |
| 9 | g.72805502T>C | CA373667768 | TMC1 | c.1687T>C (p.Tyr563His) c.1249T>C (p.Tyr417His) c.1561T>C (p.Tyr521His) n.1830T>C n.311T>C c.2275T>C (p.Tyr759His) c.1690T>C (p.Tyr564His) | dbSNP |
| 9 | g.72805502T>G | CA373667769 | TMC1 | c.1687T>G (p.Tyr563Asp) c.1249T>G (p.Tyr417Asp) c.1561T>G (p.Tyr521Asp) n.1830T>G n.311T>G c.2275T>G (p.Tyr759Asp) c.1690T>G (p.Tyr564Asp) | |
| 9 | g.72805502T= | CA1855113588 | TMC1 | c.1687T= (p.Tyr563=) c.1249T= (p.Tyr417=) c.1561T= (p.Tyr521=) n.1830T= n.311T= c.2275T= (p.Tyr759=) c.1690T= (p.Tyr564=) | |
| 9 | g.72805503A>C | CA373667770 | TMC1 | c.1688A>C (p.Tyr563Ser) c.1250A>C (p.Tyr417Ser) c.1562A>C (p.Tyr521Ser) n.1831A>C n.312A>C c.2276A>C (p.Tyr759Ser) c.1691A>C (p.Tyr564Ser) |