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 |
|---|---|---|---|---|---|
| 11 | g.77190837_77190850del | CA2792787663 | MYO7A | c.3891_3904del (p.Phe1297LeufsTer6) c.1732_1745del c.3858_3871del (p.Phe1286LeufsTer6) c.1434_1447del (p.Phe478LeufsTer6) n.418_431del n.1434_1447del c.3801_3814del (p.Phe1267LeufsTer6) c.3672_3685del (p.Phe1224LeufsTer6) c.3660_3673del (p.Phe1220LeufsTer6) c.3633_3646del (p.Phe1211LeufsTer6) n.4211_4224del n.4213_4226del c.3981_3994del (p.Phe1327LeufsTer6) c.3750_3763del (p.Phe1250LeufsTer6) n.3996_4009del | |
| 11 | g.77190838G>A | CA278722 | MYO7A | c.3892G>A (p.Gly1298Arg) c.1733G>A c.3859G>A (p.Gly1287Arg) c.1435G>A (p.Gly479Arg) n.419G>A n.1435G>A c.3802G>A (p.Gly1268Arg) c.3673G>A (p.Gly1225Arg) c.3661G>A (p.Gly1221Arg) c.3634G>A (p.Gly1212Arg) n.4212G>A n.4214G>A c.3982G>A (p.Gly1328Arg) c.3751G>A (p.Gly1251Arg) n.3997G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77190838G>C | CA381947894 | MYO7A | c.3892G>C (p.Gly1298Arg) c.1733G>C c.3859G>C (p.Gly1287Arg) c.1435G>C (p.Gly479Arg) n.419G>C n.1435G>C c.3802G>C (p.Gly1268Arg) c.3673G>C (p.Gly1225Arg) c.3661G>C (p.Gly1221Arg) c.3634G>C (p.Gly1212Arg) n.4212G>C n.4214G>C c.3982G>C (p.Gly1328Arg) c.3751G>C (p.Gly1251Arg) n.3997G>C | ClinVar |
| 11 | g.77190838G= | CA1984124212 | MYO7A | c.3892G= (p.Gly1298=) c.1733G= c.3859G= (p.Gly1287=) c.1435G= (p.Gly479=) n.419G= n.1435G= c.3802G= (p.Gly1268=) c.3673G= (p.Gly1225=) c.3661G= (p.Gly1221=) c.3634G= (p.Gly1212=) n.4212G= n.4214G= c.3982G= (p.Gly1328=) c.3751G= (p.Gly1251=) n.3997G= | |
| 11 | g.77190838G>T | CA381947895 | MYO7A | c.3892G>T (p.Gly1298Trp) c.1733G>T c.3859G>T (p.Gly1287Trp) c.1435G>T (p.Gly479Trp) n.419G>T n.1435G>T c.3802G>T (p.Gly1268Trp) c.3673G>T (p.Gly1225Trp) c.3661G>T (p.Gly1221Trp) c.3634G>T (p.Gly1212Trp) n.4212G>T n.4214G>T c.3982G>T (p.Gly1328Trp) c.3751G>T (p.Gly1251Trp) n.3997G>T | gnomAD v4 |
| 11 | g.77190838_77190850del | CA2792787673 | MYO7A | c.3892_3904del (p.Gly1298ThrfsTer?) c.1733_1745del c.3859_3871del (p.Gly1287ThrfsTer?) c.1435_1447del (p.Gly479ThrfsTer?) n.419_431del n.1435_1447del c.3802_3814del (p.Gly1268ThrfsTer?) c.3673_3685del (p.Gly1225ThrfsTer?) c.3661_3673del (p.Gly1221ThrfsTer?) c.3634_3646del (p.Gly1212ThrfsTer?) n.4212_4224del n.4214_4226del c.3982_3994del (p.Gly1328ThrfsTer?) c.3751_3763del (p.Gly1251ThrfsTer?) n.3997_4009del | |
| 11 | g.77190839G>A | CA381947897 | MYO7A | c.3893G>A (p.Gly1298Glu) c.1734G>A c.3860G>A (p.Gly1287Glu) c.1436G>A (p.Gly479Glu) n.420G>A n.1436G>A c.3803G>A (p.Gly1268Glu) c.3674G>A (p.Gly1225Glu) c.3662G>A (p.Gly1221Glu) c.3635G>A (p.Gly1212Glu) n.4213G>A n.4215G>A c.3983G>A (p.Gly1328Glu) c.3752G>A (p.Gly1251Glu) n.3998G>A | ClinVar gnomAD v4 COSMIC |
| 11 | g.77190839G>C | CA381947898 | MYO7A | c.3893G>C (p.Gly1298Ala) c.1734G>C c.3860G>C (p.Gly1287Ala) c.1436G>C (p.Gly479Ala) n.420G>C n.1436G>C c.3803G>C (p.Gly1268Ala) c.3674G>C (p.Gly1225Ala) c.3662G>C (p.Gly1221Ala) c.3635G>C (p.Gly1212Ala) n.4213G>C n.4215G>C c.3983G>C (p.Gly1328Ala) c.3752G>C (p.Gly1251Ala) n.3998G>C | |
| 11 | g.77190839G= | CA1984124214 | MYO7A | c.3893G= (p.Gly1298=) c.1734G= c.3860G= (p.Gly1287=) c.1436G= (p.Gly479=) n.420G= n.1436G= c.3803G= (p.Gly1268=) c.3674G= (p.Gly1225=) c.3662G= (p.Gly1221=) c.3635G= (p.Gly1212=) n.4213G= n.4215G= c.3983G= (p.Gly1328=) c.3752G= (p.Gly1251=) n.3998G= | |
| 11 | g.77190839G>T | CA381947900 | MYO7A | c.3893G>T (p.Gly1298Val) c.1734G>T c.3860G>T (p.Gly1287Val) c.1436G>T (p.Gly479Val) n.420G>T n.1436G>T c.3803G>T (p.Gly1268Val) c.3674G>T (p.Gly1225Val) c.3662G>T (p.Gly1221Val) c.3635G>T (p.Gly1212Val) n.4213G>T n.4215G>T c.3983G>T (p.Gly1328Val) c.3752G>T (p.Gly1251Val) n.3998G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77190840G>A | CA6198230 | MYO7A | c.3894G>A (p.Gly1298=) c.1735G>A c.3861G>A (p.Gly1287=) c.1437G>A (p.Gly479=) n.421G>A n.1437G>A c.3804G>A (p.Gly1268=) c.3675G>A (p.Gly1225=) c.3663G>A (p.Gly1221=) c.3636G>A (p.Gly1212=) n.4214G>A n.4216G>A c.3984G>A (p.Gly1328=) c.3753G>A (p.Gly1251=) n.3999G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77190840G>C | CA475796147 | MYO7A | c.3894G>C (p.Gly1298=) c.1735G>C c.3861G>C (p.Gly1287=) c.1437G>C (p.Gly479=) n.421G>C n.1437G>C c.3804G>C (p.Gly1268=) c.3675G>C (p.Gly1225=) c.3663G>C (p.Gly1221=) c.3636G>C (p.Gly1212=) n.4214G>C n.4216G>C c.3984G>C (p.Gly1328=) c.3753G>C (p.Gly1251=) n.3999G>C | |
| 11 | g.77190840G= | CA1984124216 | MYO7A | c.3894G= (p.Gly1298=) c.1735G= c.3861G= (p.Gly1287=) c.1437G= (p.Gly479=) n.421G= n.1437G= c.3804G= (p.Gly1268=) c.3675G= (p.Gly1225=) c.3663G= (p.Gly1221=) c.3636G= (p.Gly1212=) n.4214G= n.4216G= c.3984G= (p.Gly1328=) c.3753G= (p.Gly1251=) n.3999G= | |
| 11 | g.77190840G>T | CA475796146 | MYO7A | c.3894G>T (p.Gly1298=) c.1735G>T c.3861G>T (p.Gly1287=) c.1437G>T (p.Gly479=) n.421G>T n.1437G>T c.3804G>T (p.Gly1268=) c.3675G>T (p.Gly1225=) c.3663G>T (p.Gly1221=) c.3636G>T (p.Gly1212=) n.4214G>T n.4216G>T c.3984G>T (p.Gly1328=) c.3753G>T (p.Gly1251=) n.3999G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77190841T>A | CA381947903 | MYO7A | c.3895T>A (p.Phe1299Ile) c.1736T>A c.3862T>A (p.Phe1288Ile) c.1438T>A (p.Phe480Ile) n.422T>A n.1438T>A c.3805T>A (p.Phe1269Ile) c.3676T>A (p.Phe1226Ile) c.3664T>A (p.Phe1222Ile) c.3637T>A (p.Phe1213Ile) n.4215T>A n.4217T>A c.3985T>A (p.Phe1329Ile) c.3754T>A (p.Phe1252Ile) n.4000T>A | |
| 11 | g.77190841T>C | CA381947905 | MYO7A | c.3895T>C (p.Phe1299Leu) c.1736T>C c.3862T>C (p.Phe1288Leu) c.1438T>C (p.Phe480Leu) n.422T>C n.1438T>C c.3805T>C (p.Phe1269Leu) c.3676T>C (p.Phe1226Leu) c.3664T>C (p.Phe1222Leu) c.3637T>C (p.Phe1213Leu) n.4215T>C n.4217T>C c.3985T>C (p.Phe1329Leu) c.3754T>C (p.Phe1252Leu) n.4000T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77190841T>G | CA381947907 | MYO7A | c.3895T>G (p.Phe1299Val) c.1736T>G c.3862T>G (p.Phe1288Val) c.1438T>G (p.Phe480Val) n.422T>G n.1438T>G c.3805T>G (p.Phe1269Val) c.3676T>G (p.Phe1226Val) c.3664T>G (p.Phe1222Val) c.3637T>G (p.Phe1213Val) n.4215T>G n.4217T>G c.3985T>G (p.Phe1329Val) c.3754T>G (p.Phe1252Val) n.4000T>G | gnomAD v4 |
| 11 | g.77190841T= | CA1984124218 | MYO7A | c.3895T= (p.Phe1299=) c.1736T= c.3862T= (p.Phe1288=) c.1438T= (p.Phe480=) n.422T= n.1438T= c.3805T= (p.Phe1269=) c.3676T= (p.Phe1226=) c.3664T= (p.Phe1222=) c.3637T= (p.Phe1213=) n.4215T= n.4217T= c.3985T= (p.Phe1329=) c.3754T= (p.Phe1252=) n.4000T= | |
| 11 | g.77190842T>A | CA381947909 | MYO7A | c.3896T>A (p.Phe1299Tyr) c.1737T>A c.3863T>A (p.Phe1288Tyr) c.1439T>A (p.Phe480Tyr) n.423T>A n.1439T>A c.3806T>A (p.Phe1269Tyr) c.3677T>A (p.Phe1226Tyr) c.3665T>A (p.Phe1222Tyr) c.3638T>A (p.Phe1213Tyr) n.4216T>A n.4218T>A c.3986T>A (p.Phe1329Tyr) c.3755T>A (p.Phe1252Tyr) n.4001T>A | gnomAD v4 |
| 11 | g.77190842T>C | CA6198231 | MYO7A | c.3896T>C (p.Phe1299Ser) c.1737T>C c.3863T>C (p.Phe1288Ser) c.1439T>C (p.Phe480Ser) n.423T>C n.1439T>C c.3806T>C (p.Phe1269Ser) c.3677T>C (p.Phe1226Ser) c.3665T>C (p.Phe1222Ser) c.3638T>C (p.Phe1213Ser) n.4216T>C n.4218T>C c.3986T>C (p.Phe1329Ser) c.3755T>C (p.Phe1252Ser) n.4001T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77190842T>G | CA381947911 | MYO7A | c.3896T>G (p.Phe1299Cys) c.1737T>G c.3863T>G (p.Phe1288Cys) c.1439T>G (p.Phe480Cys) n.423T>G n.1439T>G c.3806T>G (p.Phe1269Cys) c.3677T>G (p.Phe1226Cys) c.3665T>G (p.Phe1222Cys) c.3638T>G (p.Phe1213Cys) n.4216T>G n.4218T>G c.3986T>G (p.Phe1329Cys) c.3755T>G (p.Phe1252Cys) n.4001T>G | |
| 11 | g.77190842T= | CA1984124219 | MYO7A | c.3896T= (p.Phe1299=) c.1737T= c.3863T= (p.Phe1288=) c.1439T= (p.Phe480=) n.423T= n.1439T= c.3806T= (p.Phe1269=) c.3677T= (p.Phe1226=) c.3665T= (p.Phe1222=) c.3638T= (p.Phe1213=) n.4216T= n.4218T= c.3986T= (p.Phe1329=) c.3755T= (p.Phe1252=) n.4001T= | |
| 11 | g.77190845_77190850del | CA2792787676 | MYO7A | c.3899_3904del (p.Ser1300_Leu1301del) c.1740_1745del c.3866_3871del (p.Ser1289_Leu1290del) c.1442_1447del (p.Ser481_Leu482del) n.426_431del n.1442_1447del c.3809_3814del (p.Ser1270_Leu1271del) c.3680_3685del (p.Ser1227_Leu1228del) c.3668_3673del (p.Ser1223_Leu1224del) c.3641_3646del (p.Ser1214_Leu1215del) n.4219_4224del n.4221_4226del c.3989_3994del (p.Ser1330_Leu1331del) c.3758_3763del (p.Ser1253_Leu1254del) n.4004_4009del | |
| 11 | g.77190843C>A | CA381947913 | MYO7A | c.3897C>A (p.Phe1299Leu) c.1738C>A c.3864C>A (p.Phe1288Leu) c.1440C>A (p.Phe480Leu) n.424C>A n.1440C>A c.3807C>A (p.Phe1269Leu) c.3678C>A (p.Phe1226Leu) c.3666C>A (p.Phe1222Leu) c.3639C>A (p.Phe1213Leu) n.4217C>A n.4219C>A c.3987C>A (p.Phe1329Leu) c.3756C>A (p.Phe1252Leu) n.4002C>A | gnomAD v4 |
| 11 | g.77190843C>G | CA381947914 | MYO7A | c.3897C>G (p.Phe1299Leu) c.1738C>G c.3864C>G (p.Phe1288Leu) c.1440C>G (p.Phe480Leu) n.424C>G n.1440C>G c.3807C>G (p.Phe1269Leu) c.3678C>G (p.Phe1226Leu) c.3666C>G (p.Phe1222Leu) c.3639C>G (p.Phe1213Leu) n.4217C>G n.4219C>G c.3987C>G (p.Phe1329Leu) c.3756C>G (p.Phe1252Leu) n.4002C>G | |
| 11 | g.77190843C>T | CA475796148 | MYO7A | c.3897C>T (p.Phe1299=) c.1738C>T c.3864C>T (p.Phe1288=) c.1440C>T (p.Phe480=) n.424C>T n.1440C>T c.3807C>T (p.Phe1269=) c.3678C>T (p.Phe1226=) c.3666C>T (p.Phe1222=) c.3639C>T (p.Phe1213=) n.4217C>T n.4219C>T c.3987C>T (p.Phe1329=) c.3756C>T (p.Phe1252=) n.4002C>T | gnomAD v4 |
| 11 | g.77190844T>A | CA381947915 | MYO7A | c.3898T>A (p.Ser1300Thr) c.1739T>A c.3865T>A (p.Ser1289Thr) c.1441T>A (p.Ser481Thr) n.425T>A n.1441T>A c.3808T>A (p.Ser1270Thr) c.3679T>A (p.Ser1227Thr) c.3667T>A (p.Ser1223Thr) c.3640T>A (p.Ser1214Thr) n.4218T>A n.4220T>A c.3988T>A (p.Ser1330Thr) c.3757T>A (p.Ser1253Thr) n.4003T>A | gnomAD v4 |
| 11 | g.77190844T>C | CA381947917 | MYO7A | c.3898T>C (p.Ser1300Pro) c.1739T>C c.3865T>C (p.Ser1289Pro) c.1441T>C (p.Ser481Pro) n.425T>C n.1441T>C c.3808T>C (p.Ser1270Pro) c.3679T>C (p.Ser1227Pro) c.3667T>C (p.Ser1223Pro) c.3640T>C (p.Ser1214Pro) n.4218T>C n.4220T>C c.3988T>C (p.Ser1330Pro) c.3757T>C (p.Ser1253Pro) n.4003T>C | gnomAD v4 |
| 11 | g.77190844T>G | CA381947918 | MYO7A | c.3898T>G (p.Ser1300Ala) c.1739T>G c.3865T>G (p.Ser1289Ala) c.1441T>G (p.Ser481Ala) n.425T>G n.1441T>G c.3808T>G (p.Ser1270Ala) c.3679T>G (p.Ser1227Ala) c.3667T>G (p.Ser1223Ala) c.3640T>G (p.Ser1214Ala) n.4218T>G n.4220T>G c.3988T>G (p.Ser1330Ala) c.3757T>G (p.Ser1253Ala) n.4003T>G | |
| 11 | g.77190845C>A | CA381947920 | MYO7A | c.3899C>A (p.Ser1300Tyr) c.1740C>A c.3866C>A (p.Ser1289Tyr) c.1442C>A (p.Ser481Tyr) n.426C>A n.1442C>A c.3809C>A (p.Ser1270Tyr) c.3680C>A (p.Ser1227Tyr) c.3668C>A (p.Ser1223Tyr) c.3641C>A (p.Ser1214Tyr) n.4219C>A n.4221C>A c.3989C>A (p.Ser1330Tyr) c.3758C>A (p.Ser1253Tyr) n.4004C>A | gnomAD v4 |
| 11 | g.77190845C= | CA1984124221 | MYO7A | c.3899C= (p.Ser1300=) c.1740C= c.3866C= (p.Ser1289=) c.1442C= (p.Ser481=) n.426C= n.1442C= c.3809C= (p.Ser1270=) c.3680C= (p.Ser1227=) c.3668C= (p.Ser1223=) c.3641C= (p.Ser1214=) n.4219C= n.4221C= c.3989C= (p.Ser1330=) c.3758C= (p.Ser1253=) n.4004C= | |
| 11 | g.77190845C>G | CA381947921 | MYO7A | c.3899C>G (p.Ser1300Cys) c.1740C>G c.3866C>G (p.Ser1289Cys) c.1442C>G (p.Ser481Cys) n.426C>G n.1442C>G c.3809C>G (p.Ser1270Cys) c.3680C>G (p.Ser1227Cys) c.3668C>G (p.Ser1223Cys) c.3641C>G (p.Ser1214Cys) n.4219C>G n.4221C>G c.3989C>G (p.Ser1330Cys) c.3758C>G (p.Ser1253Cys) n.4004C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.77190845C>T | CA381947923 | MYO7A | c.3899C>T (p.Ser1300Phe) c.1740C>T c.3866C>T (p.Ser1289Phe) c.1442C>T (p.Ser481Phe) n.426C>T n.1442C>T c.3809C>T (p.Ser1270Phe) c.3680C>T (p.Ser1227Phe) c.3668C>T (p.Ser1223Phe) c.3641C>T (p.Ser1214Phe) n.4219C>T n.4221C>T c.3989C>T (p.Ser1330Phe) c.3758C>T (p.Ser1253Phe) n.4004C>T | gnomAD v4 |
| 11 | g.77190846C>A | CA475796149 | MYO7A | c.3900C>A (p.Ser1300=) c.1741C>A c.3867C>A (p.Ser1289=) c.1443C>A (p.Ser481=) n.427C>A n.1443C>A c.3810C>A (p.Ser1270=) c.3681C>A (p.Ser1227=) c.3669C>A (p.Ser1223=) c.3642C>A (p.Ser1214=) n.4220C>A n.4222C>A c.3990C>A (p.Ser1330=) c.3759C>A (p.Ser1253=) n.4005C>A | gnomAD v4 |
| 11 | g.77190846C= | CA1984124222 | MYO7A | c.3900C= (p.Ser1300=) c.1741C= c.3867C= (p.Ser1289=) c.1443C= (p.Ser481=) n.427C= n.1443C= c.3810C= (p.Ser1270=) c.3681C= (p.Ser1227=) c.3669C= (p.Ser1223=) c.3642C= (p.Ser1214=) n.4220C= n.4222C= c.3990C= (p.Ser1330=) c.3759C= (p.Ser1253=) n.4005C= | |
| 11 | g.77190846C>G | CA6198232 | MYO7A | c.3900C>G (p.Ser1300=) c.1741C>G c.3867C>G (p.Ser1289=) c.1443C>G (p.Ser481=) n.427C>G n.1443C>G c.3810C>G (p.Ser1270=) c.3681C>G (p.Ser1227=) c.3669C>G (p.Ser1223=) c.3642C>G (p.Ser1214=) n.4220C>G n.4222C>G c.3990C>G (p.Ser1330=) c.3759C>G (p.Ser1253=) n.4005C>G | dbSNP ExAC gnomAD v2 |
| 11 | g.77190846C>T | CA224844132 | MYO7A | c.3900C>T (p.Ser1300=) c.1741C>T c.3867C>T (p.Ser1289=) c.1443C>T (p.Ser481=) n.427C>T n.1443C>T c.3810C>T (p.Ser1270=) c.3681C>T (p.Ser1227=) c.3669C>T (p.Ser1223=) c.3642C>T (p.Ser1214=) n.4220C>T n.4222C>T c.3990C>T (p.Ser1330=) c.3759C>T (p.Ser1253=) n.4005C>T | ClinVar dbSNP |
| 11 | g.77190846_77190847insACAA | CA2792787678 | MYO7A | c.3900_3901insACAA (p.Leu1301ThrfsTer8) c.1741_1742insACAA c.3867_3868insACAA (p.Leu1290ThrfsTer8) c.1443_1444insACAA (p.Leu482ThrfsTer8) n.427_428insACAA n.1443_1444insACAA c.3810_3811insACAA (p.Leu1271ThrfsTer8) c.3681_3682insACAA (p.Leu1228ThrfsTer8) c.3669_3670insACAA (p.Leu1224ThrfsTer8) c.3642_3643insACAA (p.Leu1215ThrfsTer8) n.4220_4221insACAA n.4222_4223insACAA c.3990_3991insACAA (p.Leu1331ThrfsTer8) c.3759_3760insACAA (p.Leu1254ThrfsTer8) n.4005_4006insACAA | |
| 11 | g.77190847C>A | CA381947927 | MYO7A | c.3901C>A (p.Leu1301Ile) c.1742C>A c.3868C>A (p.Leu1290Ile) c.1444C>A (p.Leu482Ile) n.428C>A n.1444C>A c.3811C>A (p.Leu1271Ile) c.3682C>A (p.Leu1228Ile) c.3670C>A (p.Leu1224Ile) c.3643C>A (p.Leu1215Ile) n.4221C>A n.4223C>A c.3991C>A (p.Leu1331Ile) c.3760C>A (p.Leu1254Ile) n.4006C>A | gnomAD v4 |
| 11 | g.77190847C= | CA1984124224 | MYO7A | c.3901C= (p.Leu1301=) c.1742C= c.3868C= (p.Leu1290=) c.1444C= (p.Leu482=) n.428C= n.1444C= c.3811C= (p.Leu1271=) c.3682C= (p.Leu1228=) c.3670C= (p.Leu1224=) c.3643C= (p.Leu1215=) n.4221C= n.4223C= c.3991C= (p.Leu1331=) c.3760C= (p.Leu1254=) n.4006C= | |
| 11 | g.77190847C>G | CA381947929 | MYO7A | c.3901C>G (p.Leu1301Val) c.1742C>G c.3868C>G (p.Leu1290Val) c.1444C>G (p.Leu482Val) n.428C>G n.1444C>G c.3811C>G (p.Leu1271Val) c.3682C>G (p.Leu1228Val) c.3670C>G (p.Leu1224Val) c.3643C>G (p.Leu1215Val) n.4221C>G n.4223C>G c.3991C>G (p.Leu1331Val) c.3760C>G (p.Leu1254Val) n.4006C>G | |
| 11 | g.77190847C>T | CA381947932 | MYO7A | c.3901C>T (p.Leu1301Phe) c.1742C>T c.3868C>T (p.Leu1290Phe) c.1444C>T (p.Leu482Phe) n.428C>T n.1444C>T c.3811C>T (p.Leu1271Phe) c.3682C>T (p.Leu1228Phe) c.3670C>T (p.Leu1224Phe) c.3643C>T (p.Leu1215Phe) n.4221C>T n.4223C>T c.3991C>T (p.Leu1331Phe) c.3760C>T (p.Leu1254Phe) n.4006C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77190848T>A | CA381947933 | MYO7A | c.3902T>A (p.Leu1301His) c.1743T>A c.3869T>A (p.Leu1290His) c.1445T>A (p.Leu482His) n.429T>A n.1445T>A c.3812T>A (p.Leu1271His) c.3683T>A (p.Leu1228His) c.3671T>A (p.Leu1224His) c.3644T>A (p.Leu1215His) n.4222T>A n.4224T>A c.3992T>A (p.Leu1331His) c.3761T>A (p.Leu1254His) n.4007T>A | |
| 11 | g.77190848T>C | CA381947934 | MYO7A | c.3902T>C (p.Leu1301Pro) c.1743T>C c.3869T>C (p.Leu1290Pro) c.1445T>C (p.Leu482Pro) n.429T>C n.1445T>C c.3812T>C (p.Leu1271Pro) c.3683T>C (p.Leu1228Pro) c.3671T>C (p.Leu1224Pro) c.3644T>C (p.Leu1215Pro) n.4222T>C n.4224T>C c.3992T>C (p.Leu1331Pro) c.3761T>C (p.Leu1254Pro) n.4007T>C | |
| 11 | g.77190848T>G | CA381947936 | MYO7A | c.3902T>G (p.Leu1301Arg) c.1743T>G c.3869T>G (p.Leu1290Arg) c.1445T>G (p.Leu482Arg) n.429T>G n.1445T>G c.3812T>G (p.Leu1271Arg) c.3683T>G (p.Leu1228Arg) c.3671T>G (p.Leu1224Arg) c.3644T>G (p.Leu1215Arg) n.4222T>G n.4224T>G c.3992T>G (p.Leu1331Arg) c.3761T>G (p.Leu1254Arg) n.4007T>G | |
| 11 | g.77190849C>A | CA475796150 | MYO7A | c.3903C>A (p.Leu1301=) c.1744C>A c.3870C>A (p.Leu1290=) c.1446C>A (p.Leu482=) n.430C>A n.1446C>A c.3813C>A (p.Leu1271=) c.3684C>A (p.Leu1228=) c.3672C>A (p.Leu1224=) c.3645C>A (p.Leu1215=) n.4223C>A n.4225C>A c.3993C>A (p.Leu1331=) c.3762C>A (p.Leu1254=) n.4008C>A | gnomAD v4 |
| 11 | g.77190849C= | CA1984124225 | MYO7A | c.3903C= (p.Leu1301=) c.1744C= c.3870C= (p.Leu1290=) c.1446C= (p.Leu482=) n.430C= n.1446C= c.3813C= (p.Leu1271=) c.3684C= (p.Leu1228=) c.3672C= (p.Leu1224=) c.3645C= (p.Leu1215=) n.4223C= n.4225C= c.3993C= (p.Leu1331=) c.3762C= (p.Leu1254=) n.4008C= | |
| 11 | g.77190849C>G | CA475796151 | MYO7A | c.3903C>G (p.Leu1301=) c.1744C>G c.3870C>G (p.Leu1290=) c.1446C>G (p.Leu482=) n.430C>G n.1446C>G c.3813C>G (p.Leu1271=) c.3684C>G (p.Leu1228=) c.3672C>G (p.Leu1224=) c.3645C>G (p.Leu1215=) n.4223C>G n.4225C>G c.3993C>G (p.Leu1331=) c.3762C>G (p.Leu1254=) n.4008C>G | ClinVar dbSNP |
| 11 | g.77190849C>T | CA475796152 | MYO7A | c.3903C>T (p.Leu1301=) c.1744C>T c.3870C>T (p.Leu1290=) c.1446C>T (p.Leu482=) n.430C>T n.1446C>T c.3813C>T (p.Leu1271=) c.3684C>T (p.Leu1228=) c.3672C>T (p.Leu1224=) c.3645C>T (p.Leu1215=) n.4223C>T n.4225C>T c.3993C>T (p.Leu1331=) c.3762C>T (p.Leu1254=) n.4008C>T | gnomAD v4 |
| 11 | g.77190850del | CA2580085018 | MYO7A | c.3904del (p.Tyr1302ThrfsTer?) c.1745del c.3871del (p.Tyr1291ThrfsTer?) c.1447del (p.Tyr483ThrfsTer?) n.431del n.1447del c.3814del (p.Tyr1272ThrfsTer?) c.3685del (p.Tyr1229ThrfsTer?) c.3673del (p.Tyr1225ThrfsTer?) c.3646del (p.Tyr1216ThrfsTer?) n.4224del n.4226del c.3994del (p.Tyr1332ThrfsTer?) c.3763del (p.Tyr1255ThrfsTer?) n.4009del | ClinVar |