| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77198497C>A | CA381950205 | MYO7A | c.4444C>A (p.Pro1482Thr) c.2285C>A c.4411C>A (p.Pro1471Thr) c.1987C>A (p.Pro663Thr) n.2097C>A c.4552C>A (p.Pro1518Thr) c.4462C>A (p.Pro1488Thr) c.4333C>A (p.Pro1445Thr) c.4321C>A (p.Pro1441Thr) c.4294C>A (p.Pro1432Thr) n.4764C>A n.4766C>A c.4534C>A (p.Pro1512Thr) c.4642C>A (p.Pro1548Thr) n.4549C>A | |
| 11 | g.77198497C>G | CA381950206 | MYO7A | c.4444C>G (p.Pro1482Ala) c.2285C>G c.4411C>G (p.Pro1471Ala) c.1987C>G (p.Pro663Ala) n.2097C>G c.4552C>G (p.Pro1518Ala) c.4462C>G (p.Pro1488Ala) c.4333C>G (p.Pro1445Ala) c.4321C>G (p.Pro1441Ala) c.4294C>G (p.Pro1432Ala) n.4764C>G n.4766C>G c.4534C>G (p.Pro1512Ala) c.4642C>G (p.Pro1548Ala) n.4549C>G | |
| 11 | g.77198497C>T | CA381950207 | MYO7A | c.4444C>T (p.Pro1482Ser) c.2285C>T c.4411C>T (p.Pro1471Ser) c.1987C>T (p.Pro663Ser) n.2097C>T c.4552C>T (p.Pro1518Ser) c.4462C>T (p.Pro1488Ser) c.4333C>T (p.Pro1445Ser) c.4321C>T (p.Pro1441Ser) c.4294C>T (p.Pro1432Ser) n.4764C>T n.4766C>T c.4534C>T (p.Pro1512Ser) c.4642C>T (p.Pro1548Ser) n.4549C>T | |
| 11 | g.77198498C>A | CA381950208 | MYO7A | c.4445C>A (p.Pro1482His) c.2286C>A c.4412C>A (p.Pro1471His) c.1988C>A (p.Pro663His) n.2098C>A c.4553C>A (p.Pro1518His) c.4463C>A (p.Pro1488His) c.4334C>A (p.Pro1445His) c.4322C>A (p.Pro1441His) c.4295C>A (p.Pro1432His) n.4765C>A n.4767C>A c.4535C>A (p.Pro1512His) c.4643C>A (p.Pro1548His) n.4550C>A | |
| 11 | g.77198498C= | CA1984120939 | MYO7A | c.4445C= (p.Pro1482=) c.2286C= c.4412C= (p.Pro1471=) c.1988C= (p.Pro663=) n.2098C= c.4553C= (p.Pro1518=) c.4463C= (p.Pro1488=) c.4334C= (p.Pro1445=) c.4322C= (p.Pro1441=) c.4295C= (p.Pro1432=) n.4765C= n.4767C= c.4535C= (p.Pro1512=) c.4643C= (p.Pro1548=) n.4550C= | |
| 11 | g.77198498C>G | CA381950209 | MYO7A | c.4445C>G (p.Pro1482Arg) c.2286C>G c.4412C>G (p.Pro1471Arg) c.1988C>G (p.Pro663Arg) n.2098C>G c.4553C>G (p.Pro1518Arg) c.4463C>G (p.Pro1488Arg) c.4334C>G (p.Pro1445Arg) c.4322C>G (p.Pro1441Arg) c.4295C>G (p.Pro1432Arg) n.4765C>G n.4767C>G c.4535C>G (p.Pro1512Arg) c.4643C>G (p.Pro1548Arg) n.4550C>G | gnomAD v4 |
| 11 | g.77198498C>T | CA381950210 | MYO7A | c.4445C>T (p.Pro1482Leu) c.2286C>T c.4412C>T (p.Pro1471Leu) c.1988C>T (p.Pro663Leu) n.2098C>T c.4553C>T (p.Pro1518Leu) c.4463C>T (p.Pro1488Leu) c.4334C>T (p.Pro1445Leu) c.4322C>T (p.Pro1441Leu) c.4295C>T (p.Pro1432Leu) n.4765C>T n.4767C>T c.4535C>T (p.Pro1512Leu) c.4643C>T (p.Pro1548Leu) n.4550C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77198499C>A | CA475796364 | MYO7A | c.4446C>A (p.Pro1482=) c.2287C>A c.4413C>A (p.Pro1471=) c.1989C>A (p.Pro663=) n.2099C>A c.4554C>A (p.Pro1518=) c.4464C>A (p.Pro1488=) c.4335C>A (p.Pro1445=) c.4323C>A (p.Pro1441=) c.4296C>A (p.Pro1432=) n.4766C>A n.4768C>A c.4536C>A (p.Pro1512=) c.4644C>A (p.Pro1548=) n.4551C>A | |
| 11 | g.77198499C= | CA1984120944 | MYO7A | c.4446C= (p.Pro1482=) c.2287C= c.4413C= (p.Pro1471=) c.1989C= (p.Pro663=) n.2099C= c.4554C= (p.Pro1518=) c.4464C= (p.Pro1488=) c.4335C= (p.Pro1445=) c.4323C= (p.Pro1441=) c.4296C= (p.Pro1432=) n.4766C= n.4768C= c.4536C= (p.Pro1512=) c.4644C= (p.Pro1548=) n.4551C= | |
| 11 | g.77198499C>G | CA475796365 | MYO7A | c.4446C>G (p.Pro1482=) c.2287C>G c.4413C>G (p.Pro1471=) c.1989C>G (p.Pro663=) n.2099C>G c.4554C>G (p.Pro1518=) c.4464C>G (p.Pro1488=) c.4335C>G (p.Pro1445=) c.4323C>G (p.Pro1441=) c.4296C>G (p.Pro1432=) n.4766C>G n.4768C>G c.4536C>G (p.Pro1512=) c.4644C>G (p.Pro1548=) n.4551C>G | |
| 11 | g.77198499C>T | CA6198452 | MYO7A | c.4446C>T (p.Pro1482=) c.2287C>T c.4413C>T (p.Pro1471=) c.1989C>T (p.Pro663=) n.2099C>T c.4554C>T (p.Pro1518=) c.4464C>T (p.Pro1488=) c.4335C>T (p.Pro1445=) c.4323C>T (p.Pro1441=) c.4296C>T (p.Pro1432=) n.4766C>T n.4768C>T c.4536C>T (p.Pro1512=) c.4644C>T (p.Pro1548=) n.4551C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77198500A= | CA1984120950 | MYO7A | c.4447A= (p.Ser1483=) c.2288A= c.4414A= (p.Ser1472=) c.1990A= (p.Ser664=) n.2100A= c.4555A= (p.Ser1519=) c.4465A= (p.Ser1489=) c.4336A= (p.Ser1446=) c.4324A= (p.Ser1442=) c.4297A= (p.Ser1433=) n.4767A= n.4769A= c.4537A= (p.Ser1513=) c.4645A= (p.Ser1549=) n.4552A= | |
| 11 | g.77198500A>C | CA381950211 | MYO7A | c.4447A>C (p.Ser1483Arg) c.2288A>C c.4414A>C (p.Ser1472Arg) c.1990A>C (p.Ser664Arg) n.2100A>C c.4555A>C (p.Ser1519Arg) c.4465A>C (p.Ser1489Arg) c.4336A>C (p.Ser1446Arg) c.4324A>C (p.Ser1442Arg) c.4297A>C (p.Ser1433Arg) n.4767A>C n.4769A>C c.4537A>C (p.Ser1513Arg) c.4645A>C (p.Ser1549Arg) n.4552A>C | |
| 11 | g.77198500A>G | CA6198453 | MYO7A | c.4447A>G (p.Ser1483Gly) c.2288A>G c.4414A>G (p.Ser1472Gly) c.1990A>G (p.Ser664Gly) n.2100A>G c.4555A>G (p.Ser1519Gly) c.4465A>G (p.Ser1489Gly) c.4336A>G (p.Ser1446Gly) c.4324A>G (p.Ser1442Gly) c.4297A>G (p.Ser1433Gly) n.4767A>G n.4769A>G c.4537A>G (p.Ser1513Gly) c.4645A>G (p.Ser1549Gly) n.4552A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77198500A>T | CA381950212 | MYO7A | c.4447A>T (p.Ser1483Cys) c.2288A>T c.4414A>T (p.Ser1472Cys) c.1990A>T (p.Ser664Cys) n.2100A>T c.4555A>T (p.Ser1519Cys) c.4465A>T (p.Ser1489Cys) c.4336A>T (p.Ser1446Cys) c.4324A>T (p.Ser1442Cys) c.4297A>T (p.Ser1433Cys) n.4767A>T n.4769A>T c.4537A>T (p.Ser1513Cys) c.4645A>T (p.Ser1549Cys) n.4552A>T | |
| 11 | g.77198501G>A | CA381950213 | MYO7A | c.4448G>A (p.Ser1483Asn) c.2289G>A c.4415G>A (p.Ser1472Asn) c.1991G>A (p.Ser664Asn) n.2101G>A c.4556G>A (p.Ser1519Asn) c.4466G>A (p.Ser1489Asn) c.4337G>A (p.Ser1446Asn) c.4325G>A (p.Ser1442Asn) c.4298G>A (p.Ser1433Asn) n.4768G>A n.4770G>A c.4538G>A (p.Ser1513Asn) c.4646G>A (p.Ser1549Asn) n.4553G>A | |
| 11 | g.77198501G>C | CA381950215 | MYO7A | c.4448G>C (p.Ser1483Thr) c.2289G>C c.4415G>C (p.Ser1472Thr) c.1991G>C (p.Ser664Thr) n.2101G>C c.4556G>C (p.Ser1519Thr) c.4466G>C (p.Ser1489Thr) c.4337G>C (p.Ser1446Thr) c.4325G>C (p.Ser1442Thr) c.4298G>C (p.Ser1433Thr) n.4768G>C n.4770G>C c.4538G>C (p.Ser1513Thr) c.4646G>C (p.Ser1549Thr) n.4553G>C | |
| 11 | g.77198501G>T | CA381950214 | MYO7A | c.4448G>T (p.Ser1483Ile) c.2289G>T c.4415G>T (p.Ser1472Ile) c.1991G>T (p.Ser664Ile) n.2101G>T c.4556G>T (p.Ser1519Ile) c.4466G>T (p.Ser1489Ile) c.4337G>T (p.Ser1446Ile) c.4325G>T (p.Ser1442Ile) c.4298G>T (p.Ser1433Ile) n.4768G>T n.4770G>T c.4538G>T (p.Ser1513Ile) c.4646G>T (p.Ser1549Ile) n.4553G>T | gnomAD v4 |
| 11 | g.77198502T>A | CA381950216 | MYO7A | c.4449T>A (p.Ser1483Arg) c.2290T>A c.4416T>A (p.Ser1472Arg) c.1992T>A (p.Ser664Arg) n.2102T>A c.4557T>A (p.Ser1519Arg) c.4467T>A (p.Ser1489Arg) c.4338T>A (p.Ser1446Arg) c.4326T>A (p.Ser1442Arg) c.4299T>A (p.Ser1433Arg) n.4769T>A n.4771T>A c.4539T>A (p.Ser1513Arg) c.4647T>A (p.Ser1549Arg) n.4554T>A | |
| 11 | g.77198502T>C | CA475796366 | MYO7A | c.4449T>C (p.Ser1483=) c.2290T>C c.4416T>C (p.Ser1472=) c.1992T>C (p.Ser664=) n.2102T>C c.4557T>C (p.Ser1519=) c.4467T>C (p.Ser1489=) c.4338T>C (p.Ser1446=) c.4326T>C (p.Ser1442=) c.4299T>C (p.Ser1433=) n.4769T>C n.4771T>C c.4539T>C (p.Ser1513=) c.4647T>C (p.Ser1549=) n.4554T>C | |
| 11 | g.77198502T>G | CA381950217 | MYO7A | c.4449T>G (p.Ser1483Arg) c.2290T>G c.4416T>G (p.Ser1472Arg) c.1992T>G (p.Ser664Arg) n.2102T>G c.4557T>G (p.Ser1519Arg) c.4467T>G (p.Ser1489Arg) c.4338T>G (p.Ser1446Arg) c.4326T>G (p.Ser1442Arg) c.4299T>G (p.Ser1433Arg) n.4769T>G n.4771T>G c.4539T>G (p.Ser1513Arg) c.4647T>G (p.Ser1549Arg) n.4554T>G | |
| 11 | g.77198503C>A | CA6198454 | MYO7A | c.4450C>A (p.Leu1484Ile) c.2291C>A c.4417C>A (p.Leu1473Ile) c.1993C>A (p.Leu665Ile) n.2103C>A c.4558C>A (p.Leu1520Ile) c.4468C>A (p.Leu1490Ile) c.4339C>A (p.Leu1447Ile) c.4327C>A (p.Leu1443Ile) c.4300C>A (p.Leu1434Ile) n.4770C>A n.4772C>A c.4540C>A (p.Leu1514Ile) c.4648C>A (p.Leu1550Ile) n.4555C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77198503C= | CA1984120960 | MYO7A | c.4450C= (p.Leu1484=) c.2291C= c.4417C= (p.Leu1473=) c.1993C= (p.Leu665=) n.2103C= c.4558C= (p.Leu1520=) c.4468C= (p.Leu1490=) c.4339C= (p.Leu1447=) c.4327C= (p.Leu1443=) c.4300C= (p.Leu1434=) n.4770C= n.4772C= c.4540C= (p.Leu1514=) c.4648C= (p.Leu1550=) n.4555C= | |
| 11 | g.77198503C>G | CA381950218 | MYO7A | c.4450C>G (p.Leu1484Val) c.2291C>G c.4417C>G (p.Leu1473Val) c.1993C>G (p.Leu665Val) n.2103C>G c.4558C>G (p.Leu1520Val) c.4468C>G (p.Leu1490Val) c.4339C>G (p.Leu1447Val) c.4327C>G (p.Leu1443Val) c.4300C>G (p.Leu1434Val) n.4770C>G n.4772C>G c.4540C>G (p.Leu1514Val) c.4648C>G (p.Leu1550Val) n.4555C>G | dbSNP gnomAD v2 |
| 11 | g.77198503C>T | CA132324 | MYO7A | c.4450C>T (p.Leu1484Phe) c.2291C>T c.4417C>T (p.Leu1473Phe) c.1993C>T (p.Leu665Phe) n.2103C>T c.4558C>T (p.Leu1520Phe) c.4468C>T (p.Leu1490Phe) c.4339C>T (p.Leu1447Phe) c.4327C>T (p.Leu1443Phe) c.4300C>T (p.Leu1434Phe) n.4770C>T n.4772C>T c.4540C>T (p.Leu1514Phe) c.4648C>T (p.Leu1550Phe) n.4555C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77198504T>A | CA381950219 | MYO7A | c.4451T>A (p.Leu1484His) c.2292T>A c.4418T>A (p.Leu1473His) c.1994T>A (p.Leu665His) n.2104T>A c.4559T>A (p.Leu1520His) c.4469T>A (p.Leu1490His) c.4340T>A (p.Leu1447His) c.4328T>A (p.Leu1443His) c.4301T>A (p.Leu1434His) n.4771T>A n.4773T>A c.4541T>A (p.Leu1514His) c.4649T>A (p.Leu1550His) n.4556T>A | |
| 11 | g.77198504T>C | CA381950220 | MYO7A | c.4451T>C (p.Leu1484Pro) c.2292T>C c.4418T>C (p.Leu1473Pro) c.1994T>C (p.Leu665Pro) n.2104T>C c.4559T>C (p.Leu1520Pro) c.4469T>C (p.Leu1490Pro) c.4340T>C (p.Leu1447Pro) c.4328T>C (p.Leu1443Pro) c.4301T>C (p.Leu1434Pro) n.4771T>C n.4773T>C c.4541T>C (p.Leu1514Pro) c.4649T>C (p.Leu1550Pro) n.4556T>C | |
| 11 | g.77198504T>G | CA381950221 | MYO7A | c.4451T>G (p.Leu1484Arg) c.2292T>G c.4418T>G (p.Leu1473Arg) c.1994T>G (p.Leu665Arg) n.2104T>G c.4559T>G (p.Leu1520Arg) c.4469T>G (p.Leu1490Arg) c.4340T>G (p.Leu1447Arg) c.4328T>G (p.Leu1443Arg) c.4301T>G (p.Leu1434Arg) n.4771T>G n.4773T>G c.4541T>G (p.Leu1514Arg) c.4649T>G (p.Leu1550Arg) n.4556T>G | |
| 11 | g.77198505C>A | CA475796367 | MYO7A | c.4452C>A (p.Leu1484=) c.2293C>A c.4419C>A (p.Leu1473=) c.1995C>A (p.Leu665=) n.2105C>A c.4560C>A (p.Leu1520=) c.4470C>A (p.Leu1490=) c.4341C>A (p.Leu1447=) c.4329C>A (p.Leu1443=) c.4302C>A (p.Leu1434=) n.4772C>A n.4774C>A c.4542C>A (p.Leu1514=) c.4650C>A (p.Leu1550=) n.4557C>A | |
| 11 | g.77198505C= | CA1984120965 | MYO7A | c.4452C= (p.Leu1484=) c.2293C= c.4419C= (p.Leu1473=) c.1995C= (p.Leu665=) n.2105C= c.4560C= (p.Leu1520=) c.4470C= (p.Leu1490=) c.4341C= (p.Leu1447=) c.4329C= (p.Leu1443=) c.4302C= (p.Leu1434=) n.4772C= n.4774C= c.4542C= (p.Leu1514=) c.4650C= (p.Leu1550=) n.4557C= | |
| 11 | g.77198505C>G | CA475796368 | MYO7A | c.4452C>G (p.Leu1484=) c.2293C>G c.4419C>G (p.Leu1473=) c.1995C>G (p.Leu665=) n.2105C>G c.4560C>G (p.Leu1520=) c.4470C>G (p.Leu1490=) c.4341C>G (p.Leu1447=) c.4329C>G (p.Leu1443=) c.4302C>G (p.Leu1434=) n.4772C>G n.4774C>G c.4542C>G (p.Leu1514=) c.4650C>G (p.Leu1550=) n.4557C>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77198505C>T | CA475796369 | MYO7A | c.4452C>T (p.Leu1484=) c.2293C>T c.4419C>T (p.Leu1473=) c.1995C>T (p.Leu665=) n.2105C>T c.4560C>T (p.Leu1520=) c.4470C>T (p.Leu1490=) c.4341C>T (p.Leu1447=) c.4329C>T (p.Leu1443=) c.4302C>T (p.Leu1434=) n.4772C>T n.4774C>T c.4542C>T (p.Leu1514=) c.4650C>T (p.Leu1550=) n.4557C>T | |
| 11 | g.77198506C>A | CA381950222 | MYO7A | c.4453C>A (p.Pro1485Thr) c.2294C>A c.4420C>A (p.Pro1474Thr) c.1996C>A (p.Pro666Thr) n.2106C>A c.4561C>A (p.Pro1521Thr) c.4471C>A (p.Pro1491Thr) c.4342C>A (p.Pro1448Thr) c.4330C>A (p.Pro1444Thr) c.4303C>A (p.Pro1435Thr) n.4773C>A n.4775C>A c.4543C>A (p.Pro1515Thr) c.4651C>A (p.Pro1551Thr) n.4558C>A | |
| 11 | g.77198506C>G | CA381950223 | MYO7A | c.4453C>G (p.Pro1485Ala) c.2294C>G c.4420C>G (p.Pro1474Ala) c.1996C>G (p.Pro666Ala) n.2106C>G c.4561C>G (p.Pro1521Ala) c.4471C>G (p.Pro1491Ala) c.4342C>G (p.Pro1448Ala) c.4330C>G (p.Pro1444Ala) c.4303C>G (p.Pro1435Ala) n.4773C>G n.4775C>G c.4543C>G (p.Pro1515Ala) c.4651C>G (p.Pro1551Ala) n.4558C>G | gnomAD v4 |
| 11 | g.77198506C>T | CA381950224 | MYO7A | c.4453C>T (p.Pro1485Ser) c.2294C>T c.4420C>T (p.Pro1474Ser) c.1996C>T (p.Pro666Ser) n.2106C>T c.4561C>T (p.Pro1521Ser) c.4471C>T (p.Pro1491Ser) c.4342C>T (p.Pro1448Ser) c.4330C>T (p.Pro1444Ser) c.4303C>T (p.Pro1435Ser) n.4773C>T n.4775C>T c.4543C>T (p.Pro1515Ser) c.4651C>T (p.Pro1551Ser) n.4558C>T | |
| 11 | g.77198507C>A | CA381950227 | MYO7A | c.4454C>A (p.Pro1485His) c.2295C>A c.4421C>A (p.Pro1474His) c.1997C>A (p.Pro666His) n.2107C>A c.4562C>A (p.Pro1521His) c.4472C>A (p.Pro1491His) c.4343C>A (p.Pro1448His) c.4331C>A (p.Pro1444His) c.4304C>A (p.Pro1435His) n.4774C>A n.4776C>A c.4544C>A (p.Pro1515His) c.4652C>A (p.Pro1551His) n.4559C>A | |
| 11 | g.77198507C>G | CA381950225 | MYO7A | c.4454C>G (p.Pro1485Arg) c.2295C>G c.4421C>G (p.Pro1474Arg) c.1997C>G (p.Pro666Arg) n.2107C>G c.4562C>G (p.Pro1521Arg) c.4472C>G (p.Pro1491Arg) c.4343C>G (p.Pro1448Arg) c.4331C>G (p.Pro1444Arg) c.4304C>G (p.Pro1435Arg) n.4774C>G n.4776C>G c.4544C>G (p.Pro1515Arg) c.4652C>G (p.Pro1551Arg) n.4559C>G | |
| 11 | g.77198507C>T | CA381950226 | MYO7A | c.4454C>T (p.Pro1485Leu) c.2295C>T c.4421C>T (p.Pro1474Leu) c.1997C>T (p.Pro666Leu) n.2107C>T c.4562C>T (p.Pro1521Leu) c.4472C>T (p.Pro1491Leu) c.4343C>T (p.Pro1448Leu) c.4331C>T (p.Pro1444Leu) c.4304C>T (p.Pro1435Leu) n.4774C>T n.4776C>T c.4544C>T (p.Pro1515Leu) c.4652C>T (p.Pro1551Leu) n.4559C>T | |
| 11 | g.77198508C>A | CA475796372 | MYO7A | c.4455C>A (p.Pro1485=) c.2296C>A c.4422C>A (p.Pro1474=) c.1998C>A (p.Pro666=) n.2108C>A c.4563C>A (p.Pro1521=) c.4473C>A (p.Pro1491=) c.4344C>A (p.Pro1448=) c.4332C>A (p.Pro1444=) c.4305C>A (p.Pro1435=) n.4775C>A n.4777C>A c.4545C>A (p.Pro1515=) c.4653C>A (p.Pro1551=) n.4560C>A | |
| 11 | g.77198508C>G | CA475796371 | MYO7A | c.4455C>G (p.Pro1485=) c.2296C>G c.4422C>G (p.Pro1474=) c.1998C>G (p.Pro666=) n.2108C>G c.4563C>G (p.Pro1521=) c.4473C>G (p.Pro1491=) c.4344C>G (p.Pro1448=) c.4332C>G (p.Pro1444=) c.4305C>G (p.Pro1435=) n.4775C>G n.4777C>G c.4545C>G (p.Pro1515=) c.4653C>G (p.Pro1551=) n.4560C>G | |
| 11 | g.77198508C>T | CA475796370 | MYO7A | c.4455C>T (p.Pro1485=) c.2296C>T c.4422C>T (p.Pro1474=) c.1998C>T (p.Pro666=) n.2108C>T c.4563C>T (p.Pro1521=) c.4473C>T (p.Pro1491=) c.4344C>T (p.Pro1448=) c.4332C>T (p.Pro1444=) c.4305C>T (p.Pro1435=) n.4775C>T n.4777C>T c.4545C>T (p.Pro1515=) c.4653C>T (p.Pro1551=) n.4560C>T | |
| 11 | g.77198509A>C | CA381950228 | MYO7A | c.4456A>C (p.Lys1486Gln) c.2297A>C c.4423A>C (p.Lys1475Gln) c.1999A>C (p.Lys667Gln) n.2109A>C c.4564A>C (p.Lys1522Gln) c.4474A>C (p.Lys1492Gln) c.4345A>C (p.Lys1449Gln) c.4333A>C (p.Lys1445Gln) c.4306A>C (p.Lys1436Gln) n.4776A>C n.4778A>C c.4546A>C (p.Lys1516Gln) c.4654A>C (p.Lys1552Gln) n.4561A>C | |
| 11 | g.77198509A>G | CA381950229 | MYO7A | c.4456A>G (p.Lys1486Glu) c.2297A>G c.4423A>G (p.Lys1475Glu) c.1999A>G (p.Lys667Glu) n.2109A>G c.4564A>G (p.Lys1522Glu) c.4474A>G (p.Lys1492Glu) c.4345A>G (p.Lys1449Glu) c.4333A>G (p.Lys1445Glu) c.4306A>G (p.Lys1436Glu) n.4776A>G n.4778A>G c.4546A>G (p.Lys1516Glu) c.4654A>G (p.Lys1552Glu) n.4561A>G | gnomAD v4 |
| 11 | g.77198509A>T | CA381950230 | MYO7A | c.4456A>T (p.Lys1486Ter) c.2297A>T c.4423A>T (p.Lys1475Ter) c.1999A>T (p.Lys667Ter) n.2109A>T c.4564A>T (p.Lys1522Ter) c.4474A>T (p.Lys1492Ter) c.4345A>T (p.Lys1449Ter) c.4333A>T (p.Lys1445Ter) c.4306A>T (p.Lys1436Ter) n.4776A>T n.4778A>T c.4546A>T (p.Lys1516Ter) c.4654A>T (p.Lys1552Ter) n.4561A>T | |
| 11 | g.77198510A= | CA1984120969 | MYO7A | c.4457A= (p.Lys1486=) c.2298A= c.4424A= (p.Lys1475=) c.2000A= (p.Lys667=) n.2110A= c.4565A= (p.Lys1522=) c.4475A= (p.Lys1492=) c.4346A= (p.Lys1449=) c.4334A= (p.Lys1445=) c.4307A= (p.Lys1436=) n.4777A= n.4779A= c.4547A= (p.Lys1516=) c.4655A= (p.Lys1552=) n.4562A= | |
| 11 | g.77198510A>C | CA381950231 | MYO7A | c.4457A>C (p.Lys1486Thr) c.2298A>C c.4424A>C (p.Lys1475Thr) c.2000A>C (p.Lys667Thr) n.2110A>C c.4565A>C (p.Lys1522Thr) c.4475A>C (p.Lys1492Thr) c.4346A>C (p.Lys1449Thr) c.4334A>C (p.Lys1445Thr) c.4307A>C (p.Lys1436Thr) n.4777A>C n.4779A>C c.4547A>C (p.Lys1516Thr) c.4655A>C (p.Lys1552Thr) n.4562A>C | |
| 11 | g.77198510A>G | CA381950232 | MYO7A | c.4457A>G (p.Lys1486Arg) c.2298A>G c.4424A>G (p.Lys1475Arg) c.2000A>G (p.Lys667Arg) n.2110A>G c.4565A>G (p.Lys1522Arg) c.4475A>G (p.Lys1492Arg) c.4346A>G (p.Lys1449Arg) c.4334A>G (p.Lys1445Arg) c.4307A>G (p.Lys1436Arg) n.4777A>G n.4779A>G c.4547A>G (p.Lys1516Arg) c.4655A>G (p.Lys1552Arg) n.4562A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.77198510A>T | CA381950233 | MYO7A | c.4457A>T (p.Lys1486Met) c.2298A>T c.4424A>T (p.Lys1475Met) c.2000A>T (p.Lys667Met) n.2110A>T c.4565A>T (p.Lys1522Met) c.4475A>T (p.Lys1492Met) c.4346A>T (p.Lys1449Met) c.4334A>T (p.Lys1445Met) c.4307A>T (p.Lys1436Met) n.4777A>T n.4779A>T c.4547A>T (p.Lys1516Met) c.4655A>T (p.Lys1552Met) n.4562A>T | |
| 11 | g.77198511G>A | CA475796373 | MYO7A | c.4458G>A (p.Lys1486=) c.2299G>A c.4425G>A (p.Lys1475=) c.2001G>A (p.Lys667=) n.2111G>A c.4566G>A (p.Lys1522=) c.4476G>A (p.Lys1492=) c.4347G>A (p.Lys1449=) c.4335G>A (p.Lys1445=) c.4308G>A (p.Lys1436=) n.4778G>A n.4780G>A c.4548G>A (p.Lys1516=) c.4656G>A (p.Lys1552=) n.4563G>A | gnomAD v4 |
| 11 | g.77198511G>C | CA381950234 | MYO7A | c.4458G>C (p.Lys1486Asn) c.2299G>C c.4425G>C (p.Lys1475Asn) c.2001G>C (p.Lys667Asn) n.2111G>C c.4566G>C (p.Lys1522Asn) c.4476G>C (p.Lys1492Asn) c.4347G>C (p.Lys1449Asn) c.4335G>C (p.Lys1445Asn) c.4308G>C (p.Lys1436Asn) n.4778G>C n.4780G>C c.4548G>C (p.Lys1516Asn) c.4656G>C (p.Lys1552Asn) n.4563G>C |