WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77192091C>A | CA381948541 | MYO7A | c.3965C>A (p.Ala1322Asp) c.1806C>A c.3932C>A (p.Ala1311Asp) c.1508C>A (p.Ala503Asp) n.1508C>A c.4073C>A (p.Ala1358Asp) c.3983C>A (p.Ala1328Asp) c.3854C>A (p.Ala1285Asp) c.3842C>A (p.Ala1281Asp) c.3815C>A (p.Ala1272Asp) n.4285C>A n.4287C>A n.4395C>A c.4055C>A (p.Ala1352Asp) c.4163C>A (p.Ala1388Asp) n.4070C>A n.4178C>A | |
| 11 | g.77192091C= | CA1984109985 | MYO7A | c.3965C= (p.Ala1322=) c.1806C= c.3932C= (p.Ala1311=) c.1508C= (p.Ala503=) n.1508C= c.4073C= (p.Ala1358=) c.3983C= (p.Ala1328=) c.3854C= (p.Ala1285=) c.3842C= (p.Ala1281=) c.3815C= (p.Ala1272=) n.4285C= n.4287C= n.4395C= c.4055C= (p.Ala1352=) c.4163C= (p.Ala1388=) n.4070C= n.4178C= | |
| 11 | g.77192091C>G | CA381948546 | MYO7A | c.3965C>G (p.Ala1322Gly) c.1806C>G c.3932C>G (p.Ala1311Gly) c.1508C>G (p.Ala503Gly) n.1508C>G c.4073C>G (p.Ala1358Gly) c.3983C>G (p.Ala1328Gly) c.3854C>G (p.Ala1285Gly) c.3842C>G (p.Ala1281Gly) c.3815C>G (p.Ala1272Gly) n.4285C>G n.4287C>G n.4395C>G c.4055C>G (p.Ala1352Gly) c.4163C>G (p.Ala1388Gly) n.4070C>G n.4178C>G | |
| 11 | g.77192091C>T | CA381948543 | MYO7A | c.3965C>T (p.Ala1322Val) c.1806C>T c.3932C>T (p.Ala1311Val) c.1508C>T (p.Ala503Val) n.1508C>T c.4073C>T (p.Ala1358Val) c.3983C>T (p.Ala1328Val) c.3854C>T (p.Ala1285Val) c.3842C>T (p.Ala1281Val) c.3815C>T (p.Ala1272Val) n.4285C>T n.4287C>T n.4395C>T c.4055C>T (p.Ala1352Val) c.4163C>T (p.Ala1388Val) n.4070C>T n.4178C>T | dbSNP |
| 11 | g.77192092C>A | CA6198276 | MYO7A | c.3966C>A (p.Ala1322=) c.1807C>A c.3933C>A (p.Ala1311=) c.1509C>A (p.Ala503=) n.1509C>A c.4074C>A (p.Ala1358=) c.3984C>A (p.Ala1328=) c.3855C>A (p.Ala1285=) c.3843C>A (p.Ala1281=) c.3816C>A (p.Ala1272=) n.4286C>A n.4288C>A n.4396C>A c.4056C>A (p.Ala1352=) c.4164C>A (p.Ala1388=) n.4071C>A n.4179C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77192092C= | CA1984109991 | MYO7A | c.3966C= (p.Ala1322=) c.1807C= c.3933C= (p.Ala1311=) c.1509C= (p.Ala503=) n.1509C= c.4074C= (p.Ala1358=) c.3984C= (p.Ala1328=) c.3855C= (p.Ala1285=) c.3843C= (p.Ala1281=) c.3816C= (p.Ala1272=) n.4286C= n.4288C= n.4396C= c.4056C= (p.Ala1352=) c.4164C= (p.Ala1388=) n.4071C= n.4179C= | |
| 11 | g.77192092C>G | CA475887028 | MYO7A | c.3966C>G (p.Ala1322=) c.1807C>G c.3933C>G (p.Ala1311=) c.1509C>G (p.Ala503=) n.1509C>G c.4074C>G (p.Ala1358=) c.3984C>G (p.Ala1328=) c.3855C>G (p.Ala1285=) c.3843C>G (p.Ala1281=) c.3816C>G (p.Ala1272=) n.4286C>G n.4288C>G n.4396C>G c.4056C>G (p.Ala1352=) c.4164C>G (p.Ala1388=) n.4071C>G n.4179C>G | |
| 11 | g.77192092C>T | CA475887027 | MYO7A | c.3966C>T (p.Ala1322=) c.1807C>T c.3933C>T (p.Ala1311=) c.1509C>T (p.Ala503=) n.1509C>T c.4074C>T (p.Ala1358=) c.3984C>T (p.Ala1328=) c.3855C>T (p.Ala1285=) c.3843C>T (p.Ala1281=) c.3816C>T (p.Ala1272=) n.4286C>T n.4288C>T n.4396C>T c.4056C>T (p.Ala1352=) c.4164C>T (p.Ala1388=) n.4071C>T n.4179C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77192093A>C | CA381948551 | MYO7A | c.3967A>C (p.Ile1323Leu) c.1808A>C c.3934A>C (p.Ile1312Leu) c.1510A>C (p.Ile504Leu) n.1510A>C c.4075A>C (p.Ile1359Leu) c.3985A>C (p.Ile1329Leu) c.3856A>C (p.Ile1286Leu) c.3844A>C (p.Ile1282Leu) c.3817A>C (p.Ile1273Leu) n.4287A>C n.4289A>C n.4397A>C c.4057A>C (p.Ile1353Leu) c.4165A>C (p.Ile1389Leu) n.4072A>C n.4180A>C | |
| 11 | g.77192093A>G | CA381948552 | MYO7A | c.3967A>G (p.Ile1323Val) c.1808A>G c.3934A>G (p.Ile1312Val) c.1510A>G (p.Ile504Val) n.1510A>G c.4075A>G (p.Ile1359Val) c.3985A>G (p.Ile1329Val) c.3856A>G (p.Ile1286Val) c.3844A>G (p.Ile1282Val) c.3817A>G (p.Ile1273Val) n.4287A>G n.4289A>G n.4397A>G c.4057A>G (p.Ile1353Val) c.4165A>G (p.Ile1389Val) n.4072A>G n.4180A>G | gnomAD v4 |
| 11 | g.77192093A>T | CA381948554 | MYO7A | c.3967A>T (p.Ile1323Phe) c.1808A>T c.3934A>T (p.Ile1312Phe) c.1510A>T (p.Ile504Phe) n.1510A>T c.4075A>T (p.Ile1359Phe) c.3985A>T (p.Ile1329Phe) c.3856A>T (p.Ile1286Phe) c.3844A>T (p.Ile1282Phe) c.3817A>T (p.Ile1273Phe) n.4287A>T n.4289A>T n.4397A>T c.4057A>T (p.Ile1353Phe) c.4165A>T (p.Ile1389Phe) n.4072A>T n.4180A>T | |
| 11 | g.77192094T>A | CA381948560 | MYO7A | c.3968T>A (p.Ile1323Asn) c.1809T>A c.3935T>A (p.Ile1312Asn) c.1511T>A (p.Ile504Asn) n.1511T>A c.4076T>A (p.Ile1359Asn) c.3986T>A (p.Ile1329Asn) c.3857T>A (p.Ile1286Asn) c.3845T>A (p.Ile1282Asn) c.3818T>A (p.Ile1273Asn) n.4288T>A n.4290T>A n.4398T>A c.4058T>A (p.Ile1353Asn) c.4166T>A (p.Ile1389Asn) n.4073T>A n.4181T>A | |
| 11 | g.77192094T>C | CA381948558 | MYO7A | c.3968T>C (p.Ile1323Thr) c.1809T>C c.3935T>C (p.Ile1312Thr) c.1511T>C (p.Ile504Thr) n.1511T>C c.4076T>C (p.Ile1359Thr) c.3986T>C (p.Ile1329Thr) c.3857T>C (p.Ile1286Thr) c.3845T>C (p.Ile1282Thr) c.3818T>C (p.Ile1273Thr) n.4288T>C n.4290T>C n.4398T>C c.4058T>C (p.Ile1353Thr) c.4166T>C (p.Ile1389Thr) n.4073T>C n.4181T>C | gnomAD v4 |
| 11 | g.77192094T>G | CA381948557 | MYO7A | c.3968T>G (p.Ile1323Ser) c.1809T>G c.3935T>G (p.Ile1312Ser) c.1511T>G (p.Ile504Ser) n.1511T>G c.4076T>G (p.Ile1359Ser) c.3986T>G (p.Ile1329Ser) c.3857T>G (p.Ile1286Ser) c.3845T>G (p.Ile1282Ser) c.3818T>G (p.Ile1273Ser) n.4288T>G n.4290T>G n.4398T>G c.4058T>G (p.Ile1353Ser) c.4166T>G (p.Ile1389Ser) n.4073T>G n.4181T>G | |
| 11 | g.77192095C>A | CA475887034 | MYO7A | c.3969C>A (p.Ile1323=) c.1810C>A c.3936C>A (p.Ile1312=) c.1512C>A (p.Ile504=) n.1512C>A c.4077C>A (p.Ile1359=) c.3987C>A (p.Ile1329=) c.3858C>A (p.Ile1286=) c.3846C>A (p.Ile1282=) c.3819C>A (p.Ile1273=) n.4289C>A n.4291C>A n.4399C>A c.4059C>A (p.Ile1353=) c.4167C>A (p.Ile1389=) n.4074C>A n.4182C>A | |
| 11 | g.77192095C>G | CA381948563 | MYO7A | c.3969C>G (p.Ile1323Met) c.1810C>G c.3936C>G (p.Ile1312Met) c.1512C>G (p.Ile504Met) n.1512C>G c.4077C>G (p.Ile1359Met) c.3987C>G (p.Ile1329Met) c.3858C>G (p.Ile1286Met) c.3846C>G (p.Ile1282Met) c.3819C>G (p.Ile1273Met) n.4289C>G n.4291C>G n.4399C>G c.4059C>G (p.Ile1353Met) c.4167C>G (p.Ile1389Met) n.4074C>G n.4182C>G | |
| 11 | g.77192095C>T | CA475887036 | MYO7A | c.3969C>T (p.Ile1323=) c.1810C>T c.3936C>T (p.Ile1312=) c.1512C>T (p.Ile504=) n.1512C>T c.4077C>T (p.Ile1359=) c.3987C>T (p.Ile1329=) c.3858C>T (p.Ile1286=) c.3846C>T (p.Ile1282=) c.3819C>T (p.Ile1273=) n.4289C>T n.4291C>T n.4399C>T c.4059C>T (p.Ile1353=) c.4167C>T (p.Ile1389=) n.4074C>T n.4182C>T | |
| 11 | g.77192096T>A | CA381948566 | MYO7A | c.3970T>A (p.Ser1324Thr) c.1811T>A c.3937T>A (p.Ser1313Thr) c.1513T>A (p.Ser505Thr) n.1513T>A c.4078T>A (p.Ser1360Thr) c.3988T>A (p.Ser1330Thr) c.3859T>A (p.Ser1287Thr) c.3847T>A (p.Ser1283Thr) c.3820T>A (p.Ser1274Thr) n.4290T>A n.4292T>A n.4400T>A c.4060T>A (p.Ser1354Thr) c.4168T>A (p.Ser1390Thr) n.4075T>A n.4183T>A | |
| 11 | g.77192096T>C | CA381948564 | MYO7A | c.3970T>C (p.Ser1324Pro) c.1811T>C c.3937T>C (p.Ser1313Pro) c.1513T>C (p.Ser505Pro) n.1513T>C c.4078T>C (p.Ser1360Pro) c.3988T>C (p.Ser1330Pro) c.3859T>C (p.Ser1287Pro) c.3847T>C (p.Ser1283Pro) c.3820T>C (p.Ser1274Pro) n.4290T>C n.4292T>C n.4400T>C c.4060T>C (p.Ser1354Pro) c.4168T>C (p.Ser1390Pro) n.4075T>C n.4183T>C | |
| 11 | g.77192096T>G | CA381948567 | MYO7A | c.3970T>G (p.Ser1324Ala) c.1811T>G c.3937T>G (p.Ser1313Ala) c.1513T>G (p.Ser505Ala) n.1513T>G c.4078T>G (p.Ser1360Ala) c.3988T>G (p.Ser1330Ala) c.3859T>G (p.Ser1287Ala) c.3847T>G (p.Ser1283Ala) c.3820T>G (p.Ser1274Ala) n.4290T>G n.4292T>G n.4400T>G c.4060T>G (p.Ser1354Ala) c.4168T>G (p.Ser1390Ala) n.4075T>G n.4183T>G | |
| 11 | g.77192097C>A | CA381948569 | MYO7A | c.3971C>A (p.Ser1324Tyr) c.1812C>A c.3938C>A (p.Ser1313Tyr) c.1514C>A (p.Ser505Tyr) n.1514C>A c.4079C>A (p.Ser1360Tyr) c.3989C>A (p.Ser1330Tyr) c.3860C>A (p.Ser1287Tyr) c.3848C>A (p.Ser1283Tyr) c.3821C>A (p.Ser1274Tyr) n.4291C>A n.4293C>A n.4401C>A c.4061C>A (p.Ser1354Tyr) c.4169C>A (p.Ser1390Tyr) n.4076C>A n.4184C>A | |
| 11 | g.77192097C= | CA1984109993 | MYO7A | c.3971C= (p.Ser1324=) c.1812C= c.3938C= (p.Ser1313=) c.1514C= (p.Ser505=) n.1514C= c.4079C= (p.Ser1360=) c.3989C= (p.Ser1330=) c.3860C= (p.Ser1287=) c.3848C= (p.Ser1283=) c.3821C= (p.Ser1274=) n.4291C= n.4293C= n.4401C= c.4061C= (p.Ser1354=) c.4169C= (p.Ser1390=) n.4076C= n.4184C= | |
| 11 | g.77192097C>G | CA381948578 | MYO7A | c.3971C>G (p.Ser1324Cys) c.1812C>G c.3938C>G (p.Ser1313Cys) c.1514C>G (p.Ser505Cys) n.1514C>G c.4079C>G (p.Ser1360Cys) c.3989C>G (p.Ser1330Cys) c.3860C>G (p.Ser1287Cys) c.3848C>G (p.Ser1283Cys) c.3821C>G (p.Ser1274Cys) n.4291C>G n.4293C>G n.4401C>G c.4061C>G (p.Ser1354Cys) c.4169C>G (p.Ser1390Cys) n.4076C>G n.4184C>G | |
| 11 | g.77192097C>T | CA381948575 | MYO7A | c.3971C>T (p.Ser1324Phe) c.1812C>T c.3938C>T (p.Ser1313Phe) c.1514C>T (p.Ser505Phe) n.1514C>T c.4079C>T (p.Ser1360Phe) c.3989C>T (p.Ser1330Phe) c.3860C>T (p.Ser1287Phe) c.3848C>T (p.Ser1283Phe) c.3821C>T (p.Ser1274Phe) n.4291C>T n.4293C>T n.4401C>T c.4061C>T (p.Ser1354Phe) c.4169C>T (p.Ser1390Phe) n.4076C>T n.4184C>T | dbSNP gnomAD v4 |
| 11 | g.77192098C>A | CA475887039 | MYO7A | c.3972C>A (p.Ser1324=) c.1813C>A c.3939C>A (p.Ser1313=) c.1515C>A (p.Ser505=) n.1515C>A c.4080C>A (p.Ser1360=) c.3990C>A (p.Ser1330=) c.3861C>A (p.Ser1287=) c.3849C>A (p.Ser1283=) c.3822C>A (p.Ser1274=) n.4292C>A n.4294C>A n.4402C>A c.4062C>A (p.Ser1354=) c.4170C>A (p.Ser1390=) n.4077C>A n.4185C>A | |
| 11 | g.77192098C>G | CA475887040 | MYO7A | c.3972C>G (p.Ser1324=) c.1813C>G c.3939C>G (p.Ser1313=) c.1515C>G (p.Ser505=) n.1515C>G c.4080C>G (p.Ser1360=) c.3990C>G (p.Ser1330=) c.3861C>G (p.Ser1287=) c.3849C>G (p.Ser1283=) c.3822C>G (p.Ser1274=) n.4292C>G n.4294C>G n.4402C>G c.4062C>G (p.Ser1354=) c.4170C>G (p.Ser1390=) n.4077C>G n.4185C>G | |
| 11 | g.77192098C>T | CA475887042 | MYO7A | c.3972C>T (p.Ser1324=) c.1813C>T c.3939C>T (p.Ser1313=) c.1515C>T (p.Ser505=) n.1515C>T c.4080C>T (p.Ser1360=) c.3990C>T (p.Ser1330=) c.3861C>T (p.Ser1287=) c.3849C>T (p.Ser1283=) c.3822C>T (p.Ser1274=) n.4292C>T n.4294C>T n.4402C>T c.4062C>T (p.Ser1354=) c.4170C>T (p.Ser1390=) n.4077C>T n.4185C>T | |
| 11 | g.77192099C>A | CA381948581 | MYO7A | c.3973C>A (p.Gln1325Lys) c.1814C>A c.3940C>A (p.Gln1314Lys) c.1516C>A (p.Gln506Lys) n.1516C>A c.4081C>A (p.Gln1361Lys) c.3991C>A (p.Gln1331Lys) c.3862C>A (p.Gln1288Lys) c.3850C>A (p.Gln1284Lys) c.3823C>A (p.Gln1275Lys) n.4293C>A n.4295C>A n.4403C>A c.4063C>A (p.Gln1355Lys) c.4171C>A (p.Gln1391Lys) n.4078C>A n.4186C>A | |
| 11 | g.77192099C>G | CA381948585 | MYO7A | c.3973C>G (p.Gln1325Glu) c.1814C>G c.3940C>G (p.Gln1314Glu) c.1516C>G (p.Gln506Glu) n.1516C>G c.4081C>G (p.Gln1361Glu) c.3991C>G (p.Gln1331Glu) c.3862C>G (p.Gln1288Glu) c.3850C>G (p.Gln1284Glu) c.3823C>G (p.Gln1275Glu) n.4293C>G n.4295C>G n.4403C>G c.4063C>G (p.Gln1355Glu) c.4171C>G (p.Gln1391Glu) n.4078C>G n.4186C>G | |
| 11 | g.77192099C>T | CA381948583 | MYO7A | c.3973C>T (p.Gln1325Ter) c.1814C>T c.3940C>T (p.Gln1314Ter) c.1516C>T (p.Gln506Ter) n.1516C>T c.4081C>T (p.Gln1361Ter) c.3991C>T (p.Gln1331Ter) c.3862C>T (p.Gln1288Ter) c.3850C>T (p.Gln1284Ter) c.3823C>T (p.Gln1275Ter) n.4293C>T n.4295C>T n.4403C>T c.4063C>T (p.Gln1355Ter) c.4171C>T (p.Gln1391Ter) n.4078C>T n.4186C>T | |
| 11 | g.77192100A>C | CA381948589 | MYO7A | c.3974A>C (p.Gln1325Pro) c.1815A>C c.3941A>C (p.Gln1314Pro) c.1517A>C (p.Gln506Pro) n.1517A>C c.4082A>C (p.Gln1361Pro) c.3992A>C (p.Gln1331Pro) c.3863A>C (p.Gln1288Pro) c.3851A>C (p.Gln1284Pro) c.3824A>C (p.Gln1275Pro) n.4294A>C n.4296A>C n.4404A>C c.4064A>C (p.Gln1355Pro) c.4172A>C (p.Gln1391Pro) n.4079A>C n.4187A>C | |
| 11 | g.77192100A>G | CA381948594 | MYO7A | c.3974A>G (p.Gln1325Arg) c.1815A>G c.3941A>G (p.Gln1314Arg) c.1517A>G (p.Gln506Arg) n.1517A>G c.4082A>G (p.Gln1361Arg) c.3992A>G (p.Gln1331Arg) c.3863A>G (p.Gln1288Arg) c.3851A>G (p.Gln1284Arg) c.3824A>G (p.Gln1275Arg) n.4294A>G n.4296A>G n.4404A>G c.4064A>G (p.Gln1355Arg) c.4172A>G (p.Gln1391Arg) n.4079A>G n.4187A>G | |
| 11 | g.77192100A>T | CA381948592 | MYO7A | c.3974A>T (p.Gln1325Leu) c.1815A>T c.3941A>T (p.Gln1314Leu) c.1517A>T (p.Gln506Leu) n.1517A>T c.4082A>T (p.Gln1361Leu) c.3992A>T (p.Gln1331Leu) c.3863A>T (p.Gln1288Leu) c.3851A>T (p.Gln1284Leu) c.3824A>T (p.Gln1275Leu) n.4294A>T n.4296A>T n.4404A>T c.4064A>T (p.Gln1355Leu) c.4172A>T (p.Gln1391Leu) n.4079A>T n.4187A>T | |
| 11 | g.77192101G>A | CA6198277 | MYO7A | c.3975G>A (p.Gln1325=) c.1816G>A c.3942G>A (p.Gln1314=) c.1518G>A (p.Gln506=) n.1518G>A c.4083G>A (p.Gln1361=) c.3993G>A (p.Gln1331=) c.3864G>A (p.Gln1288=) c.3852G>A (p.Gln1284=) c.3825G>A (p.Gln1275=) n.4295G>A n.4297G>A n.4405G>A c.4065G>A (p.Gln1355=) c.4173G>A (p.Gln1391=) n.4080G>A n.4188G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77192101G>C | CA381948602 | MYO7A | c.3975G>C (p.Gln1325His) c.1816G>C c.3942G>C (p.Gln1314His) c.1518G>C (p.Gln506His) n.1518G>C c.4083G>C (p.Gln1361His) c.3993G>C (p.Gln1331His) c.3864G>C (p.Gln1288His) c.3852G>C (p.Gln1284His) c.3825G>C (p.Gln1275His) n.4295G>C n.4297G>C n.4405G>C c.4065G>C (p.Gln1355His) c.4173G>C (p.Gln1391His) n.4080G>C n.4188G>C | |
| 11 | g.77192101G= | CA1984109996 | MYO7A | c.3975G= (p.Gln1325=) c.1816G= c.3942G= (p.Gln1314=) c.1518G= (p.Gln506=) n.1518G= c.4083G= (p.Gln1361=) c.3993G= (p.Gln1331=) c.3864G= (p.Gln1288=) c.3852G= (p.Gln1284=) c.3825G= (p.Gln1275=) n.4295G= n.4297G= n.4405G= c.4065G= (p.Gln1355=) c.4173G= (p.Gln1391=) n.4080G= n.4188G= | |
| 11 | g.77192101G>T | CA381948599 | MYO7A | c.3975G>T (p.Gln1325His) c.1816G>T c.3942G>T (p.Gln1314His) c.1518G>T (p.Gln506His) n.1518G>T c.4083G>T (p.Gln1361His) c.3993G>T (p.Gln1331His) c.3864G>T (p.Gln1288His) c.3852G>T (p.Gln1284His) c.3825G>T (p.Gln1275His) n.4295G>T n.4297G>T n.4405G>T c.4065G>T (p.Gln1355His) c.4173G>T (p.Gln1391His) n.4080G>T n.4188G>T | gnomAD v4 COSMIC |
| 11 | g.77192102T>A | CA381948604 | MYO7A | c.3976T>A (p.Cys1326Ser) c.1817T>A c.3943T>A (p.Cys1315Ser) c.1519T>A (p.Cys507Ser) n.1519T>A c.4084T>A (p.Cys1362Ser) c.3994T>A (p.Cys1332Ser) c.3865T>A (p.Cys1289Ser) c.3853T>A (p.Cys1285Ser) c.3826T>A (p.Cys1276Ser) n.4296T>A n.4298T>A n.4406T>A c.4066T>A (p.Cys1356Ser) c.4174T>A (p.Cys1392Ser) n.4081T>A n.4189T>A | |
| 11 | g.77192102T>C | CA381948609 | MYO7A | c.3976T>C (p.Cys1326Arg) c.1817T>C c.3943T>C (p.Cys1315Arg) c.1519T>C (p.Cys507Arg) n.1519T>C c.4084T>C (p.Cys1362Arg) c.3994T>C (p.Cys1332Arg) c.3865T>C (p.Cys1289Arg) c.3853T>C (p.Cys1285Arg) c.3826T>C (p.Cys1276Arg) n.4296T>C n.4298T>C n.4406T>C c.4066T>C (p.Cys1356Arg) c.4174T>C (p.Cys1392Arg) n.4081T>C n.4189T>C | gnomAD v4 |
| 11 | g.77192102T>G | CA381948606 | MYO7A | c.3976T>G (p.Cys1326Gly) c.1817T>G c.3943T>G (p.Cys1315Gly) c.1519T>G (p.Cys507Gly) n.1519T>G c.4084T>G (p.Cys1362Gly) c.3994T>G (p.Cys1332Gly) c.3865T>G (p.Cys1289Gly) c.3853T>G (p.Cys1285Gly) c.3826T>G (p.Cys1276Gly) n.4296T>G n.4298T>G n.4406T>G c.4066T>G (p.Cys1356Gly) c.4174T>G (p.Cys1392Gly) n.4081T>G n.4189T>G | gnomAD v4 |
| 11 | g.77192103G>A | CA381948611 | MYO7A | c.3977G>A (p.Cys1326Tyr) c.1818G>A c.3944G>A (p.Cys1315Tyr) c.1520G>A (p.Cys507Tyr) n.1520G>A c.4085G>A (p.Cys1362Tyr) c.3995G>A (p.Cys1332Tyr) c.3866G>A (p.Cys1289Tyr) c.3854G>A (p.Cys1285Tyr) c.3827G>A (p.Cys1276Tyr) n.4297G>A n.4299G>A n.4407G>A c.4067G>A (p.Cys1356Tyr) c.4175G>A (p.Cys1392Tyr) n.4082G>A n.4190G>A | |
| 11 | g.77192103G>C | CA381948614 | MYO7A | c.3977G>C (p.Cys1326Ser) c.1818G>C c.3944G>C (p.Cys1315Ser) c.1520G>C (p.Cys507Ser) n.1520G>C c.4085G>C (p.Cys1362Ser) c.3995G>C (p.Cys1332Ser) c.3866G>C (p.Cys1289Ser) c.3854G>C (p.Cys1285Ser) c.3827G>C (p.Cys1276Ser) n.4297G>C n.4299G>C n.4407G>C c.4067G>C (p.Cys1356Ser) c.4175G>C (p.Cys1392Ser) n.4082G>C n.4190G>C | |
| 11 | g.77192103G>T | CA381948615 | MYO7A | c.3977G>T (p.Cys1326Phe) c.1818G>T c.3944G>T (p.Cys1315Phe) c.1520G>T (p.Cys507Phe) n.1520G>T c.4085G>T (p.Cys1362Phe) c.3995G>T (p.Cys1332Phe) c.3866G>T (p.Cys1289Phe) c.3854G>T (p.Cys1285Phe) c.3827G>T (p.Cys1276Phe) n.4297G>T n.4299G>T n.4407G>T c.4067G>T (p.Cys1356Phe) c.4175G>T (p.Cys1392Phe) n.4082G>T n.4190G>T | |
| 11 | g.77192104C>A | CA6198278 | MYO7A | c.3978C>A (p.Cys1326Ter) c.1819C>A c.3945C>A (p.Cys1315Ter) c.1521C>A (p.Cys507Ter) n.1521C>A c.4086C>A (p.Cys1362Ter) c.3996C>A (p.Cys1332Ter) c.3867C>A (p.Cys1289Ter) c.3855C>A (p.Cys1285Ter) c.3828C>A (p.Cys1276Ter) n.4298C>A n.4300C>A n.4408C>A c.4068C>A (p.Cys1356Ter) c.4176C>A (p.Cys1392Ter) n.4083C>A n.4191C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77192104C= | CA1984110002 | MYO7A | c.3978C= (p.Cys1326=) c.1819C= c.3945C= (p.Cys1315=) c.1521C= (p.Cys507=) n.1521C= c.4086C= (p.Cys1362=) c.3996C= (p.Cys1332=) c.3867C= (p.Cys1289=) c.3855C= (p.Cys1285=) c.3828C= (p.Cys1276=) n.4298C= n.4300C= n.4408C= c.4068C= (p.Cys1356=) c.4176C= (p.Cys1392=) n.4083C= n.4191C= | |
| 11 | g.77192104C>G | CA381948616 | MYO7A | c.3978C>G (p.Cys1326Trp) c.1819C>G c.3945C>G (p.Cys1315Trp) c.1521C>G (p.Cys507Trp) n.1521C>G c.4086C>G (p.Cys1362Trp) c.3996C>G (p.Cys1332Trp) c.3867C>G (p.Cys1289Trp) c.3855C>G (p.Cys1285Trp) c.3828C>G (p.Cys1276Trp) n.4298C>G n.4300C>G n.4408C>G c.4068C>G (p.Cys1356Trp) c.4176C>G (p.Cys1392Trp) n.4083C>G n.4191C>G | |
| 11 | g.77192104C>T | CA132311 | MYO7A | c.3978C>T (p.Cys1326=) c.1819C>T c.3945C>T (p.Cys1315=) c.1521C>T (p.Cys507=) n.1521C>T c.4086C>T (p.Cys1362=) c.3996C>T (p.Cys1332=) c.3867C>T (p.Cys1289=) c.3855C>T (p.Cys1285=) c.3828C>T (p.Cys1276=) n.4298C>T n.4300C>T n.4408C>T c.4068C>T (p.Cys1356=) c.4176C>T (p.Cys1392=) n.4083C>T n.4191C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77192105G>A | CA180657 | MYO7A | c.3979G>A (p.Glu1327Lys) c.1820G>A c.3946G>A (p.Glu1316Lys) c.1522G>A (p.Glu508Lys) n.1522G>A c.4087G>A (p.Glu1363Lys) c.3997G>A (p.Glu1333Lys) c.3868G>A (p.Glu1290Lys) c.3856G>A (p.Glu1286Lys) c.3829G>A (p.Glu1277Lys) n.4299G>A n.4301G>A n.4409G>A c.4069G>A (p.Glu1357Lys) c.4177G>A (p.Glu1393Lys) n.4084G>A n.4192G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77192105G>C | CA6198279 | MYO7A | c.3979G>C (p.Glu1327Gln) c.1820G>C c.3946G>C (p.Glu1316Gln) c.1522G>C (p.Glu508Gln) n.1522G>C c.4087G>C (p.Glu1363Gln) c.3997G>C (p.Glu1333Gln) c.3868G>C (p.Glu1290Gln) c.3856G>C (p.Glu1286Gln) c.3829G>C (p.Glu1277Gln) n.4299G>C n.4301G>C n.4409G>C c.4069G>C (p.Glu1357Gln) c.4177G>C (p.Glu1393Gln) n.4084G>C n.4192G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77192105G= | CA1984110009 | MYO7A | c.3979G= (p.Glu1327=) c.1820G= c.3946G= (p.Glu1316=) c.1522G= (p.Glu508=) n.1522G= c.4087G= (p.Glu1363=) c.3997G= (p.Glu1333=) c.3868G= (p.Glu1290=) c.3856G= (p.Glu1286=) c.3829G= (p.Glu1277=) n.4299G= n.4301G= n.4409G= c.4069G= (p.Glu1357=) c.4177G= (p.Glu1393=) n.4084G= n.4192G= |