Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77199671A=CA1984122668MYO7Ac.4705A= (p.Ser1569=)
c.2546A=
c.4558A= (p.Ser1520=)
c.2134A= (p.Ser712=)
c.4591A= (p.Ser1531=)
n.2244A=
c.4699A= (p.Ser1567=)
c.4672A= (p.Ser1558=)
c.4609A= (p.Ser1537=)
c.4480A= (p.Ser1494=)
c.4468A= (p.Ser1490=)
c.4441A= (p.Ser1481=)
n.5025A=
n.5027A=
c.4795A= (p.Ser1599=)
c.4789A= (p.Ser1597=)
c.4681A= (p.Ser1561=)
n.4810A=
11g.77199671A>CCA381950759MYO7Ac.4705A>C (p.Ser1569Arg)
c.2546A>C
c.4558A>C (p.Ser1520Arg)
c.2134A>C (p.Ser712Arg)
c.4591A>C (p.Ser1531Arg)
n.2244A>C
c.4699A>C (p.Ser1567Arg)
c.4672A>C (p.Ser1558Arg)
c.4609A>C (p.Ser1537Arg)
c.4480A>C (p.Ser1494Arg)
c.4468A>C (p.Ser1490Arg)
c.4441A>C (p.Ser1481Arg)
n.5025A>C
n.5027A>C
c.4795A>C (p.Ser1599Arg)
c.4789A>C (p.Ser1597Arg)
c.4681A>C (p.Ser1561Arg)
n.4810A>C
11g.77199671A>GCA381950760MYO7Ac.4705A>G (p.Ser1569Gly)
c.2546A>G
c.4558A>G (p.Ser1520Gly)
c.2134A>G (p.Ser712Gly)
c.4591A>G (p.Ser1531Gly)
n.2244A>G
c.4699A>G (p.Ser1567Gly)
c.4672A>G (p.Ser1558Gly)
c.4609A>G (p.Ser1537Gly)
c.4480A>G (p.Ser1494Gly)
c.4468A>G (p.Ser1490Gly)
c.4441A>G (p.Ser1481Gly)
n.5025A>G
n.5027A>G
c.4795A>G (p.Ser1599Gly)
c.4789A>G (p.Ser1597Gly)
c.4681A>G (p.Ser1561Gly)
n.4810A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77199671A>TCA381950761MYO7Ac.4705A>T (p.Ser1569Cys)
c.2546A>T
c.4558A>T (p.Ser1520Cys)
c.2134A>T (p.Ser712Cys)
c.4591A>T (p.Ser1531Cys)
n.2244A>T
c.4699A>T (p.Ser1567Cys)
c.4672A>T (p.Ser1558Cys)
c.4609A>T (p.Ser1537Cys)
c.4480A>T (p.Ser1494Cys)
c.4468A>T (p.Ser1490Cys)
c.4441A>T (p.Ser1481Cys)
n.5025A>T
n.5027A>T
c.4795A>T (p.Ser1599Cys)
c.4789A>T (p.Ser1597Cys)
c.4681A>T (p.Ser1561Cys)
n.4810A>T
11g.77199672G>ACA381950762MYO7Ac.4706G>A (p.Ser1569Asn)
c.2547G>A
c.4559G>A (p.Ser1520Asn)
c.2135G>A (p.Ser712Asn)
c.4592G>A (p.Ser1531Asn)
n.2245G>A
c.4700G>A (p.Ser1567Asn)
c.4673G>A (p.Ser1558Asn)
c.4610G>A (p.Ser1537Asn)
c.4481G>A (p.Ser1494Asn)
c.4469G>A (p.Ser1490Asn)
c.4442G>A (p.Ser1481Asn)
n.5026G>A
n.5028G>A
c.4796G>A (p.Ser1599Asn)
c.4790G>A (p.Ser1597Asn)
c.4682G>A (p.Ser1561Asn)
n.4811G>A
 gnomAD v4
11g.77199672G>CCA6198524MYO7Ac.4706G>C (p.Ser1569Thr)
c.2547G>C
c.4559G>C (p.Ser1520Thr)
c.2135G>C (p.Ser712Thr)
c.4592G>C (p.Ser1531Thr)
n.2245G>C
c.4700G>C (p.Ser1567Thr)
c.4673G>C (p.Ser1558Thr)
c.4610G>C (p.Ser1537Thr)
c.4481G>C (p.Ser1494Thr)
c.4469G>C (p.Ser1490Thr)
c.4442G>C (p.Ser1481Thr)
n.5026G>C
n.5028G>C
c.4796G>C (p.Ser1599Thr)
c.4790G>C (p.Ser1597Thr)
c.4682G>C (p.Ser1561Thr)
n.4811G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199672G=CA1984122670MYO7Ac.4706G= (p.Ser1569=)
c.2547G=
c.4559G= (p.Ser1520=)
c.2135G= (p.Ser712=)
c.4592G= (p.Ser1531=)
n.2245G=
c.4700G= (p.Ser1567=)
c.4673G= (p.Ser1558=)
c.4610G= (p.Ser1537=)
c.4481G= (p.Ser1494=)
c.4469G= (p.Ser1490=)
c.4442G= (p.Ser1481=)
n.5026G=
n.5028G=
c.4796G= (p.Ser1599=)
c.4790G= (p.Ser1597=)
c.4682G= (p.Ser1561=)
n.4811G=
11g.77199672G>TCA381950763MYO7Ac.4706G>T (p.Ser1569Ile)
c.2547G>T
c.4559G>T (p.Ser1520Ile)
c.2135G>T (p.Ser712Ile)
c.4592G>T (p.Ser1531Ile)
n.2245G>T
c.4700G>T (p.Ser1567Ile)
c.4673G>T (p.Ser1558Ile)
c.4610G>T (p.Ser1537Ile)
c.4481G>T (p.Ser1494Ile)
c.4469G>T (p.Ser1490Ile)
c.4442G>T (p.Ser1481Ile)
n.5026G>T
n.5028G>T
c.4796G>T (p.Ser1599Ile)
c.4790G>T (p.Ser1597Ile)
c.4682G>T (p.Ser1561Ile)
n.4811G>T
11g.77199673C>ACA381950765MYO7Ac.4707C>A (p.Ser1569Arg)
c.2548C>A
c.4560C>A (p.Ser1520Arg)
c.2136C>A (p.Ser712Arg)
c.4593C>A (p.Ser1531Arg)
n.2246C>A
c.4701C>A (p.Ser1567Arg)
c.4674C>A (p.Ser1558Arg)
c.4611C>A (p.Ser1537Arg)
c.4482C>A (p.Ser1494Arg)
c.4470C>A (p.Ser1490Arg)
c.4443C>A (p.Ser1481Arg)
n.5027C>A
n.5029C>A
c.4797C>A (p.Ser1599Arg)
c.4791C>A (p.Ser1597Arg)
c.4683C>A (p.Ser1561Arg)
n.4812C>A
11g.77199673C>GCA381950764MYO7Ac.4707C>G (p.Ser1569Arg)
c.2548C>G
c.4560C>G (p.Ser1520Arg)
c.2136C>G (p.Ser712Arg)
c.4593C>G (p.Ser1531Arg)
n.2246C>G
c.4701C>G (p.Ser1567Arg)
c.4674C>G (p.Ser1558Arg)
c.4611C>G (p.Ser1537Arg)
c.4482C>G (p.Ser1494Arg)
c.4470C>G (p.Ser1490Arg)
c.4443C>G (p.Ser1481Arg)
n.5027C>G
n.5029C>G
c.4797C>G (p.Ser1599Arg)
c.4791C>G (p.Ser1597Arg)
c.4683C>G (p.Ser1561Arg)
n.4812C>G
11g.77199673C>TCA475796545MYO7Ac.4707C>T (p.Ser1569=)
c.2548C>T
c.4560C>T (p.Ser1520=)
c.2136C>T (p.Ser712=)
c.4593C>T (p.Ser1531=)
n.2246C>T
c.4701C>T (p.Ser1567=)
c.4674C>T (p.Ser1558=)
c.4611C>T (p.Ser1537=)
c.4482C>T (p.Ser1494=)
c.4470C>T (p.Ser1490=)
c.4443C>T (p.Ser1481=)
n.5027C>T
n.5029C>T
c.4797C>T (p.Ser1599=)
c.4791C>T (p.Ser1597=)
c.4683C>T (p.Ser1561=)
n.4812C>T
11g.77199674T>ACA381950766MYO7Ac.4708T>A (p.Phe1570Ile)
c.2549T>A
c.4561T>A (p.Phe1521Ile)
c.2137T>A (p.Phe713Ile)
c.4594T>A (p.Phe1532Ile)
n.2247T>A
c.4702T>A (p.Phe1568Ile)
c.4675T>A (p.Phe1559Ile)
c.4612T>A (p.Phe1538Ile)
c.4483T>A (p.Phe1495Ile)
c.4471T>A (p.Phe1491Ile)
c.4444T>A (p.Phe1482Ile)
n.5028T>A
n.5030T>A
c.4798T>A (p.Phe1600Ile)
c.4792T>A (p.Phe1598Ile)
c.4684T>A (p.Phe1562Ile)
n.4813T>A
11g.77199674T>CCA381950768MYO7Ac.4708T>C (p.Phe1570Leu)
c.2549T>C
c.4561T>C (p.Phe1521Leu)
c.2137T>C (p.Phe713Leu)
c.4594T>C (p.Phe1532Leu)
n.2247T>C
c.4702T>C (p.Phe1568Leu)
c.4675T>C (p.Phe1559Leu)
c.4612T>C (p.Phe1538Leu)
c.4483T>C (p.Phe1495Leu)
c.4471T>C (p.Phe1491Leu)
c.4444T>C (p.Phe1482Leu)
n.5028T>C
n.5030T>C
c.4798T>C (p.Phe1600Leu)
c.4792T>C (p.Phe1598Leu)
c.4684T>C (p.Phe1562Leu)
n.4813T>C
11g.77199674T>GCA381950767MYO7Ac.4708T>G (p.Phe1570Val)
c.2549T>G
c.4561T>G (p.Phe1521Val)
c.2137T>G (p.Phe713Val)
c.4594T>G (p.Phe1532Val)
n.2247T>G
c.4702T>G (p.Phe1568Val)
c.4675T>G (p.Phe1559Val)
c.4612T>G (p.Phe1538Val)
c.4483T>G (p.Phe1495Val)
c.4471T>G (p.Phe1491Val)
c.4444T>G (p.Phe1482Val)
n.5028T>G
n.5030T>G
c.4798T>G (p.Phe1600Val)
c.4792T>G (p.Phe1598Val)
c.4684T>G (p.Phe1562Val)
n.4813T>G
11g.77199675T>ACA381950769MYO7Ac.4709T>A (p.Phe1570Tyr)
c.2550T>A
c.4562T>A (p.Phe1521Tyr)
c.2138T>A (p.Phe713Tyr)
c.4595T>A (p.Phe1532Tyr)
n.2248T>A
c.4703T>A (p.Phe1568Tyr)
c.4676T>A (p.Phe1559Tyr)
c.4613T>A (p.Phe1538Tyr)
c.4484T>A (p.Phe1495Tyr)
c.4472T>A (p.Phe1491Tyr)
c.4445T>A (p.Phe1482Tyr)
n.5029T>A
n.5031T>A
c.4799T>A (p.Phe1600Tyr)
c.4793T>A (p.Phe1598Tyr)
c.4685T>A (p.Phe1562Tyr)
n.4814T>A
11g.77199675T>CCA381950770MYO7Ac.4709T>C (p.Phe1570Ser)
c.2550T>C
c.4562T>C (p.Phe1521Ser)
c.2138T>C (p.Phe713Ser)
c.4595T>C (p.Phe1532Ser)
n.2248T>C
c.4703T>C (p.Phe1568Ser)
c.4676T>C (p.Phe1559Ser)
c.4613T>C (p.Phe1538Ser)
c.4484T>C (p.Phe1495Ser)
c.4472T>C (p.Phe1491Ser)
c.4445T>C (p.Phe1482Ser)
n.5029T>C
n.5031T>C
c.4799T>C (p.Phe1600Ser)
c.4793T>C (p.Phe1598Ser)
c.4685T>C (p.Phe1562Ser)
n.4814T>C
11g.77199675T>GCA381950771MYO7Ac.4709T>G (p.Phe1570Cys)
c.2550T>G
c.4562T>G (p.Phe1521Cys)
c.2138T>G (p.Phe713Cys)
c.4595T>G (p.Phe1532Cys)
n.2248T>G
c.4703T>G (p.Phe1568Cys)
c.4676T>G (p.Phe1559Cys)
c.4613T>G (p.Phe1538Cys)
c.4484T>G (p.Phe1495Cys)
c.4472T>G (p.Phe1491Cys)
c.4445T>G (p.Phe1482Cys)
n.5029T>G
n.5031T>G
c.4799T>G (p.Phe1600Cys)
c.4793T>G (p.Phe1598Cys)
c.4685T>G (p.Phe1562Cys)
n.4814T>G
11g.77199676C>ACA381950772MYO7Ac.4710C>A (p.Phe1570Leu)
c.2551C>A
c.4563C>A (p.Phe1521Leu)
c.2139C>A (p.Phe713Leu)
c.4596C>A (p.Phe1532Leu)
n.2249C>A
c.4704C>A (p.Phe1568Leu)
c.4677C>A (p.Phe1559Leu)
c.4614C>A (p.Phe1538Leu)
c.4485C>A (p.Phe1495Leu)
c.4473C>A (p.Phe1491Leu)
c.4446C>A (p.Phe1482Leu)
n.5030C>A
n.5032C>A
c.4800C>A (p.Phe1600Leu)
c.4794C>A (p.Phe1598Leu)
c.4686C>A (p.Phe1562Leu)
n.4815C>A
11g.77199676C>GCA381950773MYO7Ac.4710C>G (p.Phe1570Leu)
c.2551C>G
c.4563C>G (p.Phe1521Leu)
c.2139C>G (p.Phe713Leu)
c.4596C>G (p.Phe1532Leu)
n.2249C>G
c.4704C>G (p.Phe1568Leu)
c.4677C>G (p.Phe1559Leu)
c.4614C>G (p.Phe1538Leu)
c.4485C>G (p.Phe1495Leu)
c.4473C>G (p.Phe1491Leu)
c.4446C>G (p.Phe1482Leu)
n.5030C>G
n.5032C>G
c.4800C>G (p.Phe1600Leu)
c.4794C>G (p.Phe1598Leu)
c.4686C>G (p.Phe1562Leu)
n.4815C>G
11g.77199676C>TCA475796546MYO7Ac.4710C>T (p.Phe1570=)
c.2551C>T
c.4563C>T (p.Phe1521=)
c.2139C>T (p.Phe713=)
c.4596C>T (p.Phe1532=)
n.2249C>T
c.4704C>T (p.Phe1568=)
c.4677C>T (p.Phe1559=)
c.4614C>T (p.Phe1538=)
c.4485C>T (p.Phe1495=)
c.4473C>T (p.Phe1491=)
c.4446C>T (p.Phe1482=)
n.5030C>T
n.5032C>T
c.4800C>T (p.Phe1600=)
c.4794C>T (p.Phe1598=)
c.4686C>T (p.Phe1562=)
n.4815C>T
 ClinVar dbSNP COSMIC
11g.77199677A=CA1984122672MYO7Ac.4711A= (p.Thr1571=)
c.2552A=
c.4564A= (p.Thr1522=)
c.2140A= (p.Thr714=)
c.4597A= (p.Thr1533=)
n.2250A=
c.4705A= (p.Thr1569=)
c.4678A= (p.Thr1560=)
c.4615A= (p.Thr1539=)
c.4486A= (p.Thr1496=)
c.4474A= (p.Thr1492=)
c.4447A= (p.Thr1483=)
n.5031A=
n.5033A=
c.4801A= (p.Thr1601=)
c.4795A= (p.Thr1599=)
c.4687A= (p.Thr1563=)
n.4816A=
11g.77199677A>CCA381950774MYO7Ac.4711A>C (p.Thr1571Pro)
c.2552A>C
c.4564A>C (p.Thr1522Pro)
c.2140A>C (p.Thr714Pro)
c.4597A>C (p.Thr1533Pro)
n.2250A>C
c.4705A>C (p.Thr1569Pro)
c.4678A>C (p.Thr1560Pro)
c.4615A>C (p.Thr1539Pro)
c.4486A>C (p.Thr1496Pro)
c.4474A>C (p.Thr1492Pro)
c.4447A>C (p.Thr1483Pro)
n.5031A>C
n.5033A>C
c.4801A>C (p.Thr1601Pro)
c.4795A>C (p.Thr1599Pro)
c.4687A>C (p.Thr1563Pro)
n.4816A>C
11g.77199677A>GCA381950775MYO7Ac.4711A>G (p.Thr1571Ala)
c.2552A>G
c.4564A>G (p.Thr1522Ala)
c.2140A>G (p.Thr714Ala)
c.4597A>G (p.Thr1533Ala)
n.2250A>G
c.4705A>G (p.Thr1569Ala)
c.4678A>G (p.Thr1560Ala)
c.4615A>G (p.Thr1539Ala)
c.4486A>G (p.Thr1496Ala)
c.4474A>G (p.Thr1492Ala)
c.4447A>G (p.Thr1483Ala)
n.5031A>G
n.5033A>G
c.4801A>G (p.Thr1601Ala)
c.4795A>G (p.Thr1599Ala)
c.4687A>G (p.Thr1563Ala)
n.4816A>G
11g.77199677A>TCA6198525MYO7Ac.4711A>T (p.Thr1571Ser)
c.2552A>T
c.4564A>T (p.Thr1522Ser)
c.2140A>T (p.Thr714Ser)
c.4597A>T (p.Thr1533Ser)
n.2250A>T
c.4705A>T (p.Thr1569Ser)
c.4678A>T (p.Thr1560Ser)
c.4615A>T (p.Thr1539Ser)
c.4486A>T (p.Thr1496Ser)
c.4474A>T (p.Thr1492Ser)
c.4447A>T (p.Thr1483Ser)
n.5031A>T
n.5033A>T
c.4801A>T (p.Thr1601Ser)
c.4795A>T (p.Thr1599Ser)
c.4687A>T (p.Thr1563Ser)
n.4816A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199678C>ACA381950776MYO7Ac.4712C>A (p.Thr1571Lys)
c.2553C>A
c.4565C>A (p.Thr1522Lys)
c.2141C>A (p.Thr714Lys)
c.4598C>A (p.Thr1533Lys)
n.2251C>A
c.4706C>A (p.Thr1569Lys)
c.4679C>A (p.Thr1560Lys)
c.4616C>A (p.Thr1539Lys)
c.4487C>A (p.Thr1496Lys)
c.4475C>A (p.Thr1492Lys)
c.4448C>A (p.Thr1483Lys)
n.5032C>A
n.5034C>A
c.4802C>A (p.Thr1601Lys)
c.4796C>A (p.Thr1599Lys)
c.4688C>A (p.Thr1563Lys)
n.4817C>A
 gnomAD v4
11g.77199678C=CA1984122676MYO7Ac.4712C= (p.Thr1571=)
c.2553C=
c.4565C= (p.Thr1522=)
c.2141C= (p.Thr714=)
c.4598C= (p.Thr1533=)
n.2251C=
c.4706C= (p.Thr1569=)
c.4679C= (p.Thr1560=)
c.4616C= (p.Thr1539=)
c.4487C= (p.Thr1496=)
c.4475C= (p.Thr1492=)
c.4448C= (p.Thr1483=)
n.5032C=
n.5034C=
c.4802C= (p.Thr1601=)
c.4796C= (p.Thr1599=)
c.4688C= (p.Thr1563=)
n.4817C=
11g.77199678C>GCA381950777MYO7Ac.4712C>G (p.Thr1571Arg)
c.2553C>G
c.4565C>G (p.Thr1522Arg)
c.2141C>G (p.Thr714Arg)
c.4598C>G (p.Thr1533Arg)
n.2251C>G
c.4706C>G (p.Thr1569Arg)
c.4679C>G (p.Thr1560Arg)
c.4616C>G (p.Thr1539Arg)
c.4487C>G (p.Thr1496Arg)
c.4475C>G (p.Thr1492Arg)
c.4448C>G (p.Thr1483Arg)
n.5032C>G
n.5034C>G
c.4802C>G (p.Thr1601Arg)
c.4796C>G (p.Thr1599Arg)
c.4688C>G (p.Thr1563Arg)
n.4817C>G
11g.77199678C>TCA6198526MYO7Ac.4712C>T (p.Thr1571Met)
c.2553C>T
c.4565C>T (p.Thr1522Met)
c.2141C>T (p.Thr714Met)
c.4598C>T (p.Thr1533Met)
n.2251C>T
c.4706C>T (p.Thr1569Met)
c.4679C>T (p.Thr1560Met)
c.4616C>T (p.Thr1539Met)
c.4487C>T (p.Thr1496Met)
c.4475C>T (p.Thr1492Met)
c.4448C>T (p.Thr1483Met)
n.5032C>T
n.5034C>T
c.4802C>T (p.Thr1601Met)
c.4796C>T (p.Thr1599Met)
c.4688C>T (p.Thr1563Met)
n.4817C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199679G>ACA6198527MYO7Ac.4713G>A (p.Thr1571=)
c.2554G>A
c.4566G>A (p.Thr1522=)
c.2142G>A (p.Thr714=)
c.4599G>A (p.Thr1533=)
n.2252G>A
c.4707G>A (p.Thr1569=)
c.4680G>A (p.Thr1560=)
c.4617G>A (p.Thr1539=)
c.4488G>A (p.Thr1496=)
c.4476G>A (p.Thr1492=)
c.4449G>A (p.Thr1483=)
n.5033G>A
n.5035G>A
c.4803G>A (p.Thr1601=)
c.4797G>A (p.Thr1599=)
c.4689G>A (p.Thr1563=)
n.4818G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199679G>CCA475796547MYO7Ac.4713G>C (p.Thr1571=)
c.2554G>C
c.4566G>C (p.Thr1522=)
c.2142G>C (p.Thr714=)
c.4599G>C (p.Thr1533=)
n.2252G>C
c.4707G>C (p.Thr1569=)
c.4680G>C (p.Thr1560=)
c.4617G>C (p.Thr1539=)
c.4488G>C (p.Thr1496=)
c.4476G>C (p.Thr1492=)
c.4449G>C (p.Thr1483=)
n.5033G>C
n.5035G>C
c.4803G>C (p.Thr1601=)
c.4797G>C (p.Thr1599=)
c.4689G>C (p.Thr1563=)
n.4818G>C
 gnomAD v4
11g.77199679G=CA1984122681MYO7Ac.4713G= (p.Thr1571=)
c.2554G=
c.4566G= (p.Thr1522=)
c.2142G= (p.Thr714=)
c.4599G= (p.Thr1533=)
n.2252G=
c.4707G= (p.Thr1569=)
c.4680G= (p.Thr1560=)
c.4617G= (p.Thr1539=)
c.4488G= (p.Thr1496=)
c.4476G= (p.Thr1492=)
c.4449G= (p.Thr1483=)
n.5033G=
n.5035G=
c.4803G= (p.Thr1601=)
c.4797G= (p.Thr1599=)
c.4689G= (p.Thr1563=)
n.4818G=
11g.77199679G>TCA475796548MYO7Ac.4713G>T (p.Thr1571=)
c.2554G>T
c.4566G>T (p.Thr1522=)
c.2142G>T (p.Thr714=)
c.4599G>T (p.Thr1533=)
n.2252G>T
c.4707G>T (p.Thr1569=)
c.4680G>T (p.Thr1560=)
c.4617G>T (p.Thr1539=)
c.4488G>T (p.Thr1496=)
c.4476G>T (p.Thr1492=)
c.4449G>T (p.Thr1483=)
n.5033G>T
n.5035G>T
c.4803G>T (p.Thr1601=)
c.4797G>T (p.Thr1599=)
c.4689G>T (p.Thr1563=)
n.4818G>T
 ClinVar dbSNP gnomAD v4
11g.77199680C>ACA381950779MYO7Ac.4714C>A (p.Leu1572Met)
c.2555C>A
c.4567C>A (p.Leu1523Met)
c.2143C>A (p.Leu715Met)
c.4600C>A (p.Leu1534Met)
n.2253C>A
c.4708C>A (p.Leu1570Met)
c.4681C>A (p.Leu1561Met)
c.4618C>A (p.Leu1540Met)
c.4489C>A (p.Leu1497Met)
c.4477C>A (p.Leu1493Met)
c.4450C>A (p.Leu1484Met)
n.5034C>A
n.5036C>A
c.4804C>A (p.Leu1602Met)
c.4798C>A (p.Leu1600Met)
c.4690C>A (p.Leu1564Met)
n.4819C>A
11g.77199680C=CA1984122683MYO7Ac.4714C= (p.Leu1572=)
c.2555C=
c.4567C= (p.Leu1523=)
c.2143C= (p.Leu715=)
c.4600C= (p.Leu1534=)
n.2253C=
c.4708C= (p.Leu1570=)
c.4681C= (p.Leu1561=)
c.4618C= (p.Leu1540=)
c.4489C= (p.Leu1497=)
c.4477C= (p.Leu1493=)
c.4450C= (p.Leu1484=)
n.5034C=
n.5036C=
c.4804C= (p.Leu1602=)
c.4798C= (p.Leu1600=)
c.4690C= (p.Leu1564=)
n.4819C=
11g.77199680C>GCA381950778MYO7Ac.4714C>G (p.Leu1572Val)
c.2555C>G
c.4567C>G (p.Leu1523Val)
c.2143C>G (p.Leu715Val)
c.4600C>G (p.Leu1534Val)
n.2253C>G
c.4708C>G (p.Leu1570Val)
c.4681C>G (p.Leu1561Val)
c.4618C>G (p.Leu1540Val)
c.4489C>G (p.Leu1497Val)
c.4477C>G (p.Leu1493Val)
c.4450C>G (p.Leu1484Val)
n.5034C>G
n.5036C>G
c.4804C>G (p.Leu1602Val)
c.4798C>G (p.Leu1600Val)
c.4690C>G (p.Leu1564Val)
n.4819C>G
 gnomAD v4
11g.77199680C>TCA475796549MYO7Ac.4714C>T (p.Leu1572=)
c.2555C>T
c.4567C>T (p.Leu1523=)
c.2143C>T (p.Leu715=)
c.4600C>T (p.Leu1534=)
n.2253C>T
c.4708C>T (p.Leu1570=)
c.4681C>T (p.Leu1561=)
c.4618C>T (p.Leu1540=)
c.4489C>T (p.Leu1497=)
c.4477C>T (p.Leu1493=)
c.4450C>T (p.Leu1484=)
n.5034C>T
n.5036C>T
c.4804C>T (p.Leu1602=)
c.4798C>T (p.Leu1600=)
c.4690C>T (p.Leu1564=)
n.4819C>T
 dbSNP gnomAD v3 gnomAD v4
11g.77199681T>ACA381950780MYO7Ac.4715T>A (p.Leu1572Gln)
c.2556T>A
c.4568T>A (p.Leu1523Gln)
c.2144T>A (p.Leu715Gln)
c.4601T>A (p.Leu1534Gln)
n.2254T>A
c.4709T>A (p.Leu1570Gln)
c.4682T>A (p.Leu1561Gln)
c.4619T>A (p.Leu1540Gln)
c.4490T>A (p.Leu1497Gln)
c.4478T>A (p.Leu1493Gln)
c.4451T>A (p.Leu1484Gln)
n.5035T>A
n.5037T>A
c.4805T>A (p.Leu1602Gln)
c.4799T>A (p.Leu1600Gln)
c.4691T>A (p.Leu1564Gln)
n.4820T>A
11g.77199681T>CCA381950781MYO7Ac.4715T>C (p.Leu1572Pro)
c.2556T>C
c.4568T>C (p.Leu1523Pro)
c.2144T>C (p.Leu715Pro)
c.4601T>C (p.Leu1534Pro)
n.2254T>C
c.4709T>C (p.Leu1570Pro)
c.4682T>C (p.Leu1561Pro)
c.4619T>C (p.Leu1540Pro)
c.4490T>C (p.Leu1497Pro)
c.4478T>C (p.Leu1493Pro)
c.4451T>C (p.Leu1484Pro)
n.5035T>C
n.5037T>C
c.4805T>C (p.Leu1602Pro)
c.4799T>C (p.Leu1600Pro)
c.4691T>C (p.Leu1564Pro)
n.4820T>C
 ClinVar dbSNP
11g.77199681T>GCA381950782MYO7Ac.4715T>G (p.Leu1572Arg)
c.2556T>G
c.4568T>G (p.Leu1523Arg)
c.2144T>G (p.Leu715Arg)
c.4601T>G (p.Leu1534Arg)
n.2254T>G
c.4709T>G (p.Leu1570Arg)
c.4682T>G (p.Leu1561Arg)
c.4619T>G (p.Leu1540Arg)
c.4490T>G (p.Leu1497Arg)
c.4478T>G (p.Leu1493Arg)
c.4451T>G (p.Leu1484Arg)
n.5035T>G
n.5037T>G
c.4805T>G (p.Leu1602Arg)
c.4799T>G (p.Leu1600Arg)
c.4691T>G (p.Leu1564Arg)
n.4820T>G
11g.77199681T=CA1984122687MYO7Ac.4715T= (p.Leu1572=)
c.2556T=
c.4568T= (p.Leu1523=)
c.2144T= (p.Leu715=)
c.4601T= (p.Leu1534=)
n.2254T=
c.4709T= (p.Leu1570=)
c.4682T= (p.Leu1561=)
c.4619T= (p.Leu1540=)
c.4490T= (p.Leu1497=)
c.4478T= (p.Leu1493=)
c.4451T= (p.Leu1484=)
n.5035T=
n.5037T=
c.4805T= (p.Leu1602=)
c.4799T= (p.Leu1600=)
c.4691T= (p.Leu1564=)
n.4820T=
11g.77199682G>ACA475796550MYO7Ac.4716G>A (p.Leu1572=)
c.2557G>A
c.4569G>A (p.Leu1523=)
c.2145G>A (p.Leu715=)
c.4602G>A (p.Leu1534=)
n.2255G>A
c.4710G>A (p.Leu1570=)
c.4683G>A (p.Leu1561=)
c.4620G>A (p.Leu1540=)
c.4491G>A (p.Leu1497=)
c.4479G>A (p.Leu1493=)
c.4452G>A (p.Leu1484=)
n.5036G>A
n.5038G>A
c.4806G>A (p.Leu1602=)
c.4800G>A (p.Leu1600=)
c.4692G>A (p.Leu1564=)
n.4821G>A
11g.77199682G>CCA475796552MYO7Ac.4716G>C (p.Leu1572=)
c.2557G>C
c.4569G>C (p.Leu1523=)
c.2145G>C (p.Leu715=)
c.4602G>C (p.Leu1534=)
n.2255G>C
c.4710G>C (p.Leu1570=)
c.4683G>C (p.Leu1561=)
c.4620G>C (p.Leu1540=)
c.4491G>C (p.Leu1497=)
c.4479G>C (p.Leu1493=)
c.4452G>C (p.Leu1484=)
n.5036G>C
n.5038G>C
c.4806G>C (p.Leu1602=)
c.4800G>C (p.Leu1600=)
c.4692G>C (p.Leu1564=)
n.4821G>C
 ClinVar
11g.77199682G>TCA475796551MYO7Ac.4716G>T (p.Leu1572=)
c.2557G>T
c.4569G>T (p.Leu1523=)
c.2145G>T (p.Leu715=)
c.4602G>T (p.Leu1534=)
n.2255G>T
c.4710G>T (p.Leu1570=)
c.4683G>T (p.Leu1561=)
c.4620G>T (p.Leu1540=)
c.4491G>T (p.Leu1497=)
c.4479G>T (p.Leu1493=)
c.4452G>T (p.Leu1484=)
n.5036G>T
n.5038G>T
c.4806G>T (p.Leu1602=)
c.4800G>T (p.Leu1600=)
c.4692G>T (p.Leu1564=)
n.4821G>T
11g.77199683G>ACA381950783MYO7Ac.4717G>A (p.Ala1573Thr)
c.2558G>A
c.4570G>A (p.Ala1524Thr)
c.2146G>A (p.Ala716Thr)
c.4603G>A (p.Ala1535Thr)
n.2256G>A
c.4711G>A (p.Ala1571Thr)
c.4684G>A (p.Ala1562Thr)
c.4621G>A (p.Ala1541Thr)
c.4492G>A (p.Ala1498Thr)
c.4480G>A (p.Ala1494Thr)
c.4453G>A (p.Ala1485Thr)
n.5037G>A
n.5039G>A
c.4807G>A (p.Ala1603Thr)
c.4801G>A (p.Ala1601Thr)
c.4693G>A (p.Ala1565Thr)
n.4822G>A
11g.77199683G>CCA381950784MYO7Ac.4717G>C (p.Ala1573Pro)
c.2558G>C
c.4570G>C (p.Ala1524Pro)
c.2146G>C (p.Ala716Pro)
c.4603G>C (p.Ala1535Pro)
n.2256G>C
c.4711G>C (p.Ala1571Pro)
c.4684G>C (p.Ala1562Pro)
c.4621G>C (p.Ala1541Pro)
c.4492G>C (p.Ala1498Pro)
c.4480G>C (p.Ala1494Pro)
c.4453G>C (p.Ala1485Pro)
n.5037G>C
n.5039G>C
c.4807G>C (p.Ala1603Pro)
c.4801G>C (p.Ala1601Pro)
c.4693G>C (p.Ala1565Pro)
n.4822G>C
11g.77199683G>TCA381950785MYO7Ac.4717G>T (p.Ala1573Ser)
c.2558G>T
c.4570G>T (p.Ala1524Ser)
c.2146G>T (p.Ala716Ser)
c.4603G>T (p.Ala1535Ser)
n.2256G>T
c.4711G>T (p.Ala1571Ser)
c.4684G>T (p.Ala1562Ser)
c.4621G>T (p.Ala1541Ser)
c.4492G>T (p.Ala1498Ser)
c.4480G>T (p.Ala1494Ser)
c.4453G>T (p.Ala1485Ser)
n.5037G>T
n.5039G>T
c.4807G>T (p.Ala1603Ser)
c.4801G>T (p.Ala1601Ser)
c.4693G>T (p.Ala1565Ser)
n.4822G>T
11g.77199684C>ACA381950786MYO7Ac.4718C>A (p.Ala1573Asp)
c.2559C>A
c.4571C>A (p.Ala1524Asp)
c.2147C>A (p.Ala716Asp)
c.4604C>A (p.Ala1535Asp)
n.2257C>A
c.4712C>A (p.Ala1571Asp)
c.4685C>A (p.Ala1562Asp)
c.4622C>A (p.Ala1541Asp)
c.4493C>A (p.Ala1498Asp)
c.4481C>A (p.Ala1494Asp)
c.4454C>A (p.Ala1485Asp)
n.5038C>A
n.5040C>A
c.4808C>A (p.Ala1603Asp)
c.4802C>A (p.Ala1601Asp)
c.4694C>A (p.Ala1565Asp)
n.4823C>A
11g.77199684C>GCA381950787MYO7Ac.4718C>G (p.Ala1573Gly)
c.2559C>G
c.4571C>G (p.Ala1524Gly)
c.2147C>G (p.Ala716Gly)
c.4604C>G (p.Ala1535Gly)
n.2257C>G
c.4712C>G (p.Ala1571Gly)
c.4685C>G (p.Ala1562Gly)
c.4622C>G (p.Ala1541Gly)
c.4493C>G (p.Ala1498Gly)
c.4481C>G (p.Ala1494Gly)
c.4454C>G (p.Ala1485Gly)
n.5038C>G
n.5040C>G
c.4808C>G (p.Ala1603Gly)
c.4802C>G (p.Ala1601Gly)
c.4694C>G (p.Ala1565Gly)
n.4823C>G
11g.77199684C>TCA381950788MYO7Ac.4718C>T (p.Ala1573Val)
c.2559C>T
c.4571C>T (p.Ala1524Val)
c.2147C>T (p.Ala716Val)
c.4604C>T (p.Ala1535Val)
n.2257C>T
c.4712C>T (p.Ala1571Val)
c.4685C>T (p.Ala1562Val)
c.4622C>T (p.Ala1541Val)
c.4493C>T (p.Ala1498Val)
c.4481C>T (p.Ala1494Val)
c.4454C>T (p.Ala1485Val)
n.5038C>T
n.5040C>T
c.4808C>T (p.Ala1603Val)
c.4802C>T (p.Ala1601Val)
c.4694C>T (p.Ala1565Val)
n.4823C>T
11g.77199685C>ACA475796553MYO7Ac.4719C>A (p.Ala1573=)
c.2560C>A
c.4572C>A (p.Ala1524=)
c.2148C>A (p.Ala716=)
c.4605C>A (p.Ala1535=)
n.2258C>A
c.4713C>A (p.Ala1571=)
c.4686C>A (p.Ala1562=)
c.4623C>A (p.Ala1541=)
c.4494C>A (p.Ala1498=)
c.4482C>A (p.Ala1494=)
c.4455C>A (p.Ala1485=)
n.5039C>A
n.5041C>A
c.4809C>A (p.Ala1603=)
c.4803C>A (p.Ala1601=)
c.4695C>A (p.Ala1565=)
n.4824C>A
11g.77199685C=CA1984122690MYO7Ac.4719C= (p.Ala1573=)
c.2560C=
c.4572C= (p.Ala1524=)
c.2148C= (p.Ala716=)
c.4605C= (p.Ala1535=)
n.2258C=
c.4713C= (p.Ala1571=)
c.4686C= (p.Ala1562=)
c.4623C= (p.Ala1541=)
c.4494C= (p.Ala1498=)
c.4482C= (p.Ala1494=)
c.4455C= (p.Ala1485=)
n.5039C=
n.5041C=
c.4809C= (p.Ala1603=)
c.4803C= (p.Ala1601=)
c.4695C= (p.Ala1565=)
n.4824C=
11g.77199685C>GCA475796554MYO7Ac.4719C>G (p.Ala1573=)
c.2560C>G
c.4572C>G (p.Ala1524=)
c.2148C>G (p.Ala716=)
c.4605C>G (p.Ala1535=)
n.2258C>G
c.4713C>G (p.Ala1571=)
c.4686C>G (p.Ala1562=)
c.4623C>G (p.Ala1541=)
c.4494C>G (p.Ala1498=)
c.4482C>G (p.Ala1494=)
c.4455C>G (p.Ala1485=)
n.5039C>G
n.5041C>G
c.4809C>G (p.Ala1603=)
c.4803C>G (p.Ala1601=)
c.4695C>G (p.Ala1565=)
n.4824C>G
11g.77199685C>TCA475796555MYO7Ac.4719C>T (p.Ala1573=)
c.2560C>T
c.4572C>T (p.Ala1524=)
c.2148C>T (p.Ala716=)
c.4605C>T (p.Ala1535=)
n.2258C>T
c.4713C>T (p.Ala1571=)
c.4686C>T (p.Ala1562=)
c.4623C>T (p.Ala1541=)
c.4494C>T (p.Ala1498=)
c.4482C>T (p.Ala1494=)
c.4455C>T (p.Ala1485=)
n.5039C>T
n.5041C>T
c.4809C>T (p.Ala1603=)
c.4803C>T (p.Ala1601=)
c.4695C>T (p.Ala1565=)
n.4824C>T
 dbSNP
11g.77199686A>CCA381950789MYO7Ac.4720A>C (p.Thr1574Pro)
c.2561A>C
c.4573A>C (p.Thr1525Pro)
c.2149A>C (p.Thr717Pro)
c.4606A>C (p.Thr1536Pro)
n.2259A>C
c.4714A>C (p.Thr1572Pro)
c.4687A>C (p.Thr1563Pro)
c.4624A>C (p.Thr1542Pro)
c.4495A>C (p.Thr1499Pro)
c.4483A>C (p.Thr1495Pro)
c.4456A>C (p.Thr1486Pro)
n.5040A>C
n.5042A>C
c.4810A>C (p.Thr1604Pro)
c.4804A>C (p.Thr1602Pro)
c.4696A>C (p.Thr1566Pro)
n.4825A>C
11g.77199686A>GCA381950790MYO7Ac.4720A>G (p.Thr1574Ala)
c.2561A>G
c.4573A>G (p.Thr1525Ala)
c.2149A>G (p.Thr717Ala)
c.4606A>G (p.Thr1536Ala)
n.2259A>G
c.4714A>G (p.Thr1572Ala)
c.4687A>G (p.Thr1563Ala)
c.4624A>G (p.Thr1542Ala)
c.4495A>G (p.Thr1499Ala)
c.4483A>G (p.Thr1495Ala)
c.4456A>G (p.Thr1486Ala)
n.5040A>G
n.5042A>G
c.4810A>G (p.Thr1604Ala)
c.4804A>G (p.Thr1602Ala)
c.4696A>G (p.Thr1566Ala)
n.4825A>G
 gnomAD v4
11g.77199686A>TCA381950791MYO7Ac.4720A>T (p.Thr1574Ser)
c.2561A>T
c.4573A>T (p.Thr1525Ser)
c.2149A>T (p.Thr717Ser)
c.4606A>T (p.Thr1536Ser)
n.2259A>T
c.4714A>T (p.Thr1572Ser)
c.4687A>T (p.Thr1563Ser)
c.4624A>T (p.Thr1542Ser)
c.4495A>T (p.Thr1499Ser)
c.4483A>T (p.Thr1495Ser)
c.4456A>T (p.Thr1486Ser)
n.5040A>T
n.5042A>T
c.4810A>T (p.Thr1604Ser)
c.4804A>T (p.Thr1602Ser)
c.4696A>T (p.Thr1566Ser)
n.4825A>T
11g.77199687C>ACA381950793MYO7Ac.4721C>A (p.Thr1574Asn)
c.2562C>A
c.4574C>A (p.Thr1525Asn)
c.2150C>A (p.Thr717Asn)
c.4607C>A (p.Thr1536Asn)
n.2260C>A
c.4715C>A (p.Thr1572Asn)
c.4688C>A (p.Thr1563Asn)
c.4625C>A (p.Thr1542Asn)
c.4496C>A (p.Thr1499Asn)
c.4484C>A (p.Thr1495Asn)
c.4457C>A (p.Thr1486Asn)
n.5041C>A
n.5043C>A
c.4811C>A (p.Thr1604Asn)
c.4805C>A (p.Thr1602Asn)
c.4697C>A (p.Thr1566Asn)
n.4826C>A
11g.77199687C=CA1984122695MYO7Ac.4721C= (p.Thr1574=)
c.2562C=
c.4574C= (p.Thr1525=)
c.2150C= (p.Thr717=)
c.4607C= (p.Thr1536=)
n.2260C=
c.4715C= (p.Thr1572=)
c.4688C= (p.Thr1563=)
c.4625C= (p.Thr1542=)
c.4496C= (p.Thr1499=)
c.4484C= (p.Thr1495=)
c.4457C= (p.Thr1486=)
n.5041C=
n.5043C=
c.4811C= (p.Thr1604=)
c.4805C= (p.Thr1602=)
c.4697C= (p.Thr1566=)
n.4826C=
11g.77199687C>GCA381950792MYO7Ac.4721C>G (p.Thr1574Ser)
c.2562C>G
c.4574C>G (p.Thr1525Ser)
c.2150C>G (p.Thr717Ser)
c.4607C>G (p.Thr1536Ser)
n.2260C>G
c.4715C>G (p.Thr1572Ser)
c.4688C>G (p.Thr1563Ser)
c.4625C>G (p.Thr1542Ser)
c.4496C>G (p.Thr1499Ser)
c.4484C>G (p.Thr1495Ser)
c.4457C>G (p.Thr1486Ser)
n.5041C>G
n.5043C>G
c.4811C>G (p.Thr1604Ser)
c.4805C>G (p.Thr1602Ser)
c.4697C>G (p.Thr1566Ser)
n.4826C>G
11g.77199687C>TCA6198528MYO7Ac.4721C>T (p.Thr1574Ile)
c.2562C>T
c.4574C>T (p.Thr1525Ile)
c.2150C>T (p.Thr717Ile)
c.4607C>T (p.Thr1536Ile)
n.2260C>T
c.4715C>T (p.Thr1572Ile)
c.4688C>T (p.Thr1563Ile)
c.4625C>T (p.Thr1542Ile)
c.4496C>T (p.Thr1499Ile)
c.4484C>T (p.Thr1495Ile)
c.4457C>T (p.Thr1486Ile)
n.5041C>T
n.5043C>T
c.4811C>T (p.Thr1604Ile)
c.4805C>T (p.Thr1602Ile)
c.4697C>T (p.Thr1566Ile)
n.4826C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199688C>ACA475796556MYO7Ac.4722C>A (p.Thr1574=)
c.2563C>A
c.4575C>A (p.Thr1525=)
c.2151C>A (p.Thr717=)
c.4608C>A (p.Thr1536=)
n.2261C>A
c.4716C>A (p.Thr1572=)
c.4689C>A (p.Thr1563=)
c.4626C>A (p.Thr1542=)
c.4497C>A (p.Thr1499=)
c.4485C>A (p.Thr1495=)
c.4458C>A (p.Thr1486=)
n.5042C>A
n.5044C>A
c.4812C>A (p.Thr1604=)
c.4806C>A (p.Thr1602=)
c.4698C>A (p.Thr1566=)
n.4827C>A
11g.77199688C>GCA475796557MYO7Ac.4722C>G (p.Thr1574=)
c.2563C>G
c.4575C>G (p.Thr1525=)
c.2151C>G (p.Thr717=)
c.4608C>G (p.Thr1536=)
n.2261C>G
c.4716C>G (p.Thr1572=)
c.4689C>G (p.Thr1563=)
c.4626C>G (p.Thr1542=)
c.4497C>G (p.Thr1499=)
c.4485C>G (p.Thr1495=)
c.4458C>G (p.Thr1486=)
n.5042C>G
n.5044C>G
c.4812C>G (p.Thr1604=)
c.4806C>G (p.Thr1602=)
c.4698C>G (p.Thr1566=)
n.4827C>G
11g.77199688C>TCA475796558MYO7Ac.4722C>T (p.Thr1574=)
c.2563C>T
c.4575C>T (p.Thr1525=)
c.2151C>T (p.Thr717=)
c.4608C>T (p.Thr1536=)
n.2261C>T
c.4716C>T (p.Thr1572=)
c.4689C>T (p.Thr1563=)
c.4626C>T (p.Thr1542=)
c.4497C>T (p.Thr1499=)
c.4485C>T (p.Thr1495=)
c.4458C>T (p.Thr1486=)
n.5042C>T
n.5044C>T
c.4812C>T (p.Thr1604=)
c.4806C>T (p.Thr1602=)
c.4698C>T (p.Thr1566=)
n.4827C>T
11g.77199689A=CA1984122699MYO7Ac.4723A= (p.Ile1575=)
c.2564A=
c.4576A= (p.Ile1526=)
c.2152A= (p.Ile718=)
c.4609A= (p.Ile1537=)
n.2262A=
c.4717A= (p.Ile1573=)
c.4690A= (p.Ile1564=)
c.4627A= (p.Ile1543=)
c.4498A= (p.Ile1500=)
c.4486A= (p.Ile1496=)
c.4459A= (p.Ile1487=)
n.5043A=
n.5045A=
c.4813A= (p.Ile1605=)
c.4807A= (p.Ile1603=)
c.4699A= (p.Ile1567=)
n.4828A=
11g.77199689A>CCA381950794MYO7Ac.4723A>C (p.Ile1575Leu)
c.2564A>C
c.4576A>C (p.Ile1526Leu)
c.2152A>C (p.Ile718Leu)
c.4609A>C (p.Ile1537Leu)
n.2262A>C
c.4717A>C (p.Ile1573Leu)
c.4690A>C (p.Ile1564Leu)
c.4627A>C (p.Ile1543Leu)
c.4498A>C (p.Ile1500Leu)
c.4486A>C (p.Ile1496Leu)
c.4459A>C (p.Ile1487Leu)
n.5043A>C
n.5045A>C
c.4813A>C (p.Ile1605Leu)
c.4807A>C (p.Ile1603Leu)
c.4699A>C (p.Ile1567Leu)
n.4828A>C
11g.77199689A>GCA6198529MYO7Ac.4723A>G (p.Ile1575Val)
c.2564A>G
c.4576A>G (p.Ile1526Val)
c.2152A>G (p.Ile718Val)
c.4609A>G (p.Ile1537Val)
n.2262A>G
c.4717A>G (p.Ile1573Val)
c.4690A>G (p.Ile1564Val)
c.4627A>G (p.Ile1543Val)
c.4498A>G (p.Ile1500Val)
c.4486A>G (p.Ile1496Val)
c.4459A>G (p.Ile1487Val)
n.5043A>G
n.5045A>G
c.4813A>G (p.Ile1605Val)
c.4807A>G (p.Ile1603Val)
c.4699A>G (p.Ile1567Val)
n.4828A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199689A>TCA381950795MYO7Ac.4723A>T (p.Ile1575Phe)
c.2564A>T
c.4576A>T (p.Ile1526Phe)
c.2152A>T (p.Ile718Phe)
c.4609A>T (p.Ile1537Phe)
n.2262A>T
c.4717A>T (p.Ile1573Phe)
c.4690A>T (p.Ile1564Phe)
c.4627A>T (p.Ile1543Phe)
c.4498A>T (p.Ile1500Phe)
c.4486A>T (p.Ile1496Phe)
c.4459A>T (p.Ile1487Phe)
n.5043A>T
n.5045A>T
c.4813A>T (p.Ile1605Phe)
c.4807A>T (p.Ile1603Phe)
c.4699A>T (p.Ile1567Phe)
n.4828A>T
11g.77199690T>ACA381950796MYO7Ac.4724T>A (p.Ile1575Asn)
c.2565T>A
c.4577T>A (p.Ile1526Asn)
c.2153T>A (p.Ile718Asn)
c.4610T>A (p.Ile1537Asn)
n.2263T>A
c.4718T>A (p.Ile1573Asn)
c.4691T>A (p.Ile1564Asn)
c.4628T>A (p.Ile1543Asn)
c.4499T>A (p.Ile1500Asn)
c.4487T>A (p.Ile1496Asn)
c.4460T>A (p.Ile1487Asn)
n.5044T>A
n.5046T>A
c.4814T>A (p.Ile1605Asn)
c.4808T>A (p.Ile1603Asn)
c.4700T>A (p.Ile1567Asn)
n.4829T>A
11g.77199690T>CCA381950797MYO7Ac.4724T>C (p.Ile1575Thr)
c.2565T>C
c.4577T>C (p.Ile1526Thr)
c.2153T>C (p.Ile718Thr)
c.4610T>C (p.Ile1537Thr)
n.2263T>C
c.4718T>C (p.Ile1573Thr)
c.4691T>C (p.Ile1564Thr)
c.4628T>C (p.Ile1543Thr)
c.4499T>C (p.Ile1500Thr)
c.4487T>C (p.Ile1496Thr)
c.4460T>C (p.Ile1487Thr)
n.5044T>C
n.5046T>C
c.4814T>C (p.Ile1605Thr)
c.4808T>C (p.Ile1603Thr)
c.4700T>C (p.Ile1567Thr)
n.4829T>C
11g.77199690T>GCA381950798MYO7Ac.4724T>G (p.Ile1575Ser)
c.2565T>G
c.4577T>G (p.Ile1526Ser)
c.2153T>G (p.Ile718Ser)
c.4610T>G (p.Ile1537Ser)
n.2263T>G
c.4718T>G (p.Ile1573Ser)
c.4691T>G (p.Ile1564Ser)
c.4628T>G (p.Ile1543Ser)
c.4499T>G (p.Ile1500Ser)
c.4487T>G (p.Ile1496Ser)
c.4460T>G (p.Ile1487Ser)
n.5044T>G
n.5046T>G
c.4814T>G (p.Ile1605Ser)
c.4808T>G (p.Ile1603Ser)
c.4700T>G (p.Ile1567Ser)
n.4829T>G
11g.77199691C>ACA475796559MYO7Ac.4725C>A (p.Ile1575=)
c.2566C>A
c.4578C>A (p.Ile1526=)
c.2154C>A (p.Ile718=)
c.4611C>A (p.Ile1537=)
n.2264C>A
c.4719C>A (p.Ile1573=)
c.4692C>A (p.Ile1564=)
c.4629C>A (p.Ile1543=)
c.4500C>A (p.Ile1500=)
c.4488C>A (p.Ile1496=)
c.4461C>A (p.Ile1487=)
n.5045C>A
n.5047C>A
c.4815C>A (p.Ile1605=)
c.4809C>A (p.Ile1603=)
c.4701C>A (p.Ile1567=)
n.4830C>A
11g.77199691C>GCA381950799MYO7Ac.4725C>G (p.Ile1575Met)
c.2566C>G
c.4578C>G (p.Ile1526Met)
c.2154C>G (p.Ile718Met)
c.4611C>G (p.Ile1537Met)
n.2264C>G
c.4719C>G (p.Ile1573Met)
c.4692C>G (p.Ile1564Met)
c.4629C>G (p.Ile1543Met)
c.4500C>G (p.Ile1500Met)
c.4488C>G (p.Ile1496Met)
c.4461C>G (p.Ile1487Met)
n.5045C>G
n.5047C>G
c.4815C>G (p.Ile1605Met)
c.4809C>G (p.Ile1603Met)
c.4701C>G (p.Ile1567Met)
n.4830C>G
11g.77199691C>TCA475796560MYO7Ac.4725C>T (p.Ile1575=)
c.2566C>T
c.4578C>T (p.Ile1526=)
c.2154C>T (p.Ile718=)
c.4611C>T (p.Ile1537=)
n.2264C>T
c.4719C>T (p.Ile1573=)
c.4692C>T (p.Ile1564=)
c.4629C>T (p.Ile1543=)
c.4500C>T (p.Ile1500=)
c.4488C>T (p.Ile1496=)
c.4461C>T (p.Ile1487=)
n.5045C>T
n.5047C>T
c.4815C>T (p.Ile1605=)
c.4809C>T (p.Ile1603=)
c.4701C>T (p.Ile1567=)
n.4830C>T
11g.77199692A>CCA381950800MYO7Ac.4726A>C (p.Lys1576Gln)
c.2567A>C
c.4579A>C (p.Lys1527Gln)
c.2155A>C (p.Lys719Gln)
c.4612A>C (p.Lys1538Gln)
n.2265A>C
c.4720A>C (p.Lys1574Gln)
c.4693A>C (p.Lys1565Gln)
c.4630A>C (p.Lys1544Gln)
c.4501A>C (p.Lys1501Gln)
c.4489A>C (p.Lys1497Gln)
c.4462A>C (p.Lys1488Gln)
n.5046A>C
n.5048A>C
c.4816A>C (p.Lys1606Gln)
c.4810A>C (p.Lys1604Gln)
c.4702A>C (p.Lys1568Gln)
n.4831A>C
11g.77199692A>GCA381950801MYO7Ac.4726A>G (p.Lys1576Glu)
c.2567A>G
c.4579A>G (p.Lys1527Glu)
c.2155A>G (p.Lys719Glu)
c.4612A>G (p.Lys1538Glu)
n.2265A>G
c.4720A>G (p.Lys1574Glu)
c.4693A>G (p.Lys1565Glu)
c.4630A>G (p.Lys1544Glu)
c.4501A>G (p.Lys1501Glu)
c.4489A>G (p.Lys1497Glu)
c.4462A>G (p.Lys1488Glu)
n.5046A>G
n.5048A>G
c.4816A>G (p.Lys1606Glu)
c.4810A>G (p.Lys1604Glu)
c.4702A>G (p.Lys1568Glu)
n.4831A>G
11g.77199692A>TCA381950802MYO7Ac.4726A>T (p.Lys1576Ter)
c.2567A>T
c.4579A>T (p.Lys1527Ter)
c.2155A>T (p.Lys719Ter)
c.4612A>T (p.Lys1538Ter)
n.2265A>T
c.4720A>T (p.Lys1574Ter)
c.4693A>T (p.Lys1565Ter)
c.4630A>T (p.Lys1544Ter)
c.4501A>T (p.Lys1501Ter)
c.4489A>T (p.Lys1497Ter)
c.4462A>T (p.Lys1488Ter)
n.5046A>T
n.5048A>T
c.4816A>T (p.Lys1606Ter)
c.4810A>T (p.Lys1604Ter)
c.4702A>T (p.Lys1568Ter)
n.4831A>T
11g.77199693A=CA1984122704MYO7Ac.4727A= (p.Lys1576=)
c.2568A=
c.4580A= (p.Lys1527=)
c.2156A= (p.Lys719=)
c.4613A= (p.Lys1538=)
n.2266A=
c.4721A= (p.Lys1574=)
c.4694A= (p.Lys1565=)
c.4631A= (p.Lys1544=)
c.4502A= (p.Lys1501=)
c.4490A= (p.Lys1497=)
c.4463A= (p.Lys1488=)
n.5047A=
n.5049A=
c.4817A= (p.Lys1606=)
c.4811A= (p.Lys1604=)
c.4703A= (p.Lys1568=)
n.4832A=
11g.77199693A>CCA381950803MYO7Ac.4727A>C (p.Lys1576Thr)
c.2568A>C
c.4580A>C (p.Lys1527Thr)
c.2156A>C (p.Lys719Thr)
c.4613A>C (p.Lys1538Thr)
n.2266A>C
c.4721A>C (p.Lys1574Thr)
c.4694A>C (p.Lys1565Thr)
c.4631A>C (p.Lys1544Thr)
c.4502A>C (p.Lys1501Thr)
c.4490A>C (p.Lys1497Thr)
c.4463A>C (p.Lys1488Thr)
n.5047A>C
n.5049A>C
c.4817A>C (p.Lys1606Thr)
c.4811A>C (p.Lys1604Thr)
c.4703A>C (p.Lys1568Thr)
n.4832A>C
11g.77199693A>GCA381950804MYO7Ac.4727A>G (p.Lys1576Arg)
c.2568A>G
c.4580A>G (p.Lys1527Arg)
c.2156A>G (p.Lys719Arg)
c.4613A>G (p.Lys1538Arg)
n.2266A>G
c.4721A>G (p.Lys1574Arg)
c.4694A>G (p.Lys1565Arg)
c.4631A>G (p.Lys1544Arg)
c.4502A>G (p.Lys1501Arg)
c.4490A>G (p.Lys1497Arg)
c.4463A>G (p.Lys1488Arg)
n.5047A>G
n.5049A>G
c.4817A>G (p.Lys1606Arg)
c.4811A>G (p.Lys1604Arg)
c.4703A>G (p.Lys1568Arg)
n.4832A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77199693A>TCA381950805MYO7Ac.4727A>T (p.Lys1576Met)
c.2568A>T
c.4580A>T (p.Lys1527Met)
c.2156A>T (p.Lys719Met)
c.4613A>T (p.Lys1538Met)
n.2266A>T
c.4721A>T (p.Lys1574Met)
c.4694A>T (p.Lys1565Met)
c.4631A>T (p.Lys1544Met)
c.4502A>T (p.Lys1501Met)
c.4490A>T (p.Lys1497Met)
c.4463A>T (p.Lys1488Met)
n.5047A>T
n.5049A>T
c.4817A>T (p.Lys1606Met)
c.4811A>T (p.Lys1604Met)
c.4703A>T (p.Lys1568Met)
n.4832A>T
11g.77199694G>ACA6198530MYO7Ac.4728G>A (p.Lys1576=)
c.2569G>A
c.4581G>A (p.Lys1527=)
c.2157G>A (p.Lys719=)
c.4614G>A (p.Lys1538=)
n.2267G>A
c.4722G>A (p.Lys1574=)
c.4695G>A (p.Lys1565=)
c.4632G>A (p.Lys1544=)
c.4503G>A (p.Lys1501=)
c.4491G>A (p.Lys1497=)
c.4464G>A (p.Lys1488=)
n.5048G>A
n.5050G>A
c.4818G>A (p.Lys1606=)
c.4812G>A (p.Lys1604=)
c.4704G>A (p.Lys1568=)
n.4833G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199694G>CCA381950806MYO7Ac.4728G>C (p.Lys1576Asn)
c.2569G>C
c.4581G>C (p.Lys1527Asn)
c.2157G>C (p.Lys719Asn)
c.4614G>C (p.Lys1538Asn)
n.2267G>C
c.4722G>C (p.Lys1574Asn)
c.4695G>C (p.Lys1565Asn)
c.4632G>C (p.Lys1544Asn)
c.4503G>C (p.Lys1501Asn)
c.4491G>C (p.Lys1497Asn)
c.4464G>C (p.Lys1488Asn)
n.5048G>C
n.5050G>C
c.4818G>C (p.Lys1606Asn)
c.4812G>C (p.Lys1604Asn)
c.4704G>C (p.Lys1568Asn)
n.4833G>C
11g.77199694G=CA1984122712MYO7Ac.4728G= (p.Lys1576=)
c.2569G=
c.4581G= (p.Lys1527=)
c.2157G= (p.Lys719=)
c.4614G= (p.Lys1538=)
n.2267G=
c.4722G= (p.Lys1574=)
c.4695G= (p.Lys1565=)
c.4632G= (p.Lys1544=)
c.4503G= (p.Lys1501=)
c.4491G= (p.Lys1497=)
c.4464G= (p.Lys1488=)
n.5048G=
n.5050G=
c.4818G= (p.Lys1606=)
c.4812G= (p.Lys1604=)
c.4704G= (p.Lys1568=)
n.4833G=
11g.77199694G>TCA381950807MYO7Ac.4728G>T (p.Lys1576Asn)
c.2569G>T
c.4581G>T (p.Lys1527Asn)
c.2157G>T (p.Lys719Asn)
c.4614G>T (p.Lys1538Asn)
n.2267G>T
c.4722G>T (p.Lys1574Asn)
c.4695G>T (p.Lys1565Asn)
c.4632G>T (p.Lys1544Asn)
c.4503G>T (p.Lys1501Asn)
c.4491G>T (p.Lys1497Asn)
c.4464G>T (p.Lys1488Asn)
n.5048G>T
n.5050G>T
c.4818G>T (p.Lys1606Asn)
c.4812G>T (p.Lys1604Asn)
c.4704G>T (p.Lys1568Asn)
n.4833G>T
 dbSNP gnomAD v4
11g.77199697_77199698delCA2792789855MYO7Ac.4731_4732del (p.Asp1578ArgfsTer10)
c.2572_2573del
c.4584_4585del (p.Asp1529ArgfsTer10)
c.2160_2161del (p.Asp721ArgfsTer10)
c.4617_4618del (p.Asp1540ArgfsTer10)
n.2270_2271del
c.4725_4726del (p.Asp1576ArgfsTer10)
c.4698_4699del (p.Asp1567ArgfsTer10)
c.4635_4636del (p.Asp1546ArgfsTer10)
c.4506_4507del (p.Asp1503ArgfsTer10)
c.4494_4495del (p.Asp1499ArgfsTer10)
c.4467_4468del (p.Asp1490ArgfsTer10)
n.5051_5052del
n.5053_5054del
c.4821_4822del (p.Asp1608ArgfsTer10)
c.4815_4816del (p.Asp1606ArgfsTer10)
c.4707_4708del (p.Asp1570ArgfsTer10)
n.4836_4837del
11g.77199695G>ACA381950808MYO7Ac.4729G>A (p.Gly1577Arg)
c.2570G>A
c.4582G>A (p.Gly1528Arg)
c.2158G>A (p.Gly720Arg)
c.4615G>A (p.Gly1539Arg)
n.2268G>A
c.4723G>A (p.Gly1575Arg)
c.4696G>A (p.Gly1566Arg)
c.4633G>A (p.Gly1545Arg)
c.4504G>A (p.Gly1502Arg)
c.4492G>A (p.Gly1498Arg)
c.4465G>A (p.Gly1489Arg)
n.5049G>A
n.5051G>A
c.4819G>A (p.Gly1607Arg)
c.4813G>A (p.Gly1605Arg)
c.4705G>A (p.Gly1569Arg)
n.4834G>A
 COSMIC
11g.77199695G>CCA381950809MYO7Ac.4729G>C (p.Gly1577Arg)
c.2570G>C
c.4582G>C (p.Gly1528Arg)
c.2158G>C (p.Gly720Arg)
c.4615G>C (p.Gly1539Arg)
n.2268G>C
c.4723G>C (p.Gly1575Arg)
c.4696G>C (p.Gly1566Arg)
c.4633G>C (p.Gly1545Arg)
c.4504G>C (p.Gly1502Arg)
c.4492G>C (p.Gly1498Arg)
c.4465G>C (p.Gly1489Arg)
n.5049G>C
n.5051G>C
c.4819G>C (p.Gly1607Arg)
c.4813G>C (p.Gly1605Arg)
c.4705G>C (p.Gly1569Arg)
n.4834G>C
11g.77199695G=CA1984122714MYO7Ac.4729G= (p.Gly1577=)
c.2570G=
c.4582G= (p.Gly1528=)
c.2158G= (p.Gly720=)
c.4615G= (p.Gly1539=)
n.2268G=
c.4723G= (p.Gly1575=)
c.4696G= (p.Gly1566=)
c.4633G= (p.Gly1545=)
c.4504G= (p.Gly1502=)
c.4492G= (p.Gly1498=)
c.4465G= (p.Gly1489=)
n.5049G=
n.5051G=
c.4819G= (p.Gly1607=)
c.4813G= (p.Gly1605=)
c.4705G= (p.Gly1569=)
n.4834G=
11g.77199695G>TCA381950810MYO7Ac.4729G>T (p.Gly1577Trp)
c.2570G>T
c.4582G>T (p.Gly1528Trp)
c.2158G>T (p.Gly720Trp)
c.4615G>T (p.Gly1539Trp)
n.2268G>T
c.4723G>T (p.Gly1575Trp)
c.4696G>T (p.Gly1566Trp)
c.4633G>T (p.Gly1545Trp)
c.4504G>T (p.Gly1502Trp)
c.4492G>T (p.Gly1498Trp)
c.4465G>T (p.Gly1489Trp)
n.5049G>T
n.5051G>T
c.4819G>T (p.Gly1607Trp)
c.4813G>T (p.Gly1605Trp)
c.4705G>T (p.Gly1569Trp)
n.4834G>T
 dbSNP
11g.77199696G>ACA381950811MYO7Ac.4730G>A (p.Gly1577Glu)
c.2571G>A
c.4583G>A (p.Gly1528Glu)
c.2159G>A (p.Gly720Glu)
c.4616G>A (p.Gly1539Glu)
n.2269G>A
c.4724G>A (p.Gly1575Glu)
c.4697G>A (p.Gly1566Glu)
c.4634G>A (p.Gly1545Glu)
c.4505G>A (p.Gly1502Glu)
c.4493G>A (p.Gly1498Glu)
c.4466G>A (p.Gly1489Glu)
n.5050G>A
n.5052G>A
c.4820G>A (p.Gly1607Glu)
c.4814G>A (p.Gly1605Glu)
c.4706G>A (p.Gly1569Glu)
n.4835G>A
11g.77199696G>CCA381950812MYO7Ac.4730G>C (p.Gly1577Ala)
c.2571G>C
c.4583G>C (p.Gly1528Ala)
c.2159G>C (p.Gly720Ala)
c.4616G>C (p.Gly1539Ala)
n.2269G>C
c.4724G>C (p.Gly1575Ala)
c.4697G>C (p.Gly1566Ala)
c.4634G>C (p.Gly1545Ala)
c.4505G>C (p.Gly1502Ala)
c.4493G>C (p.Gly1498Ala)
c.4466G>C (p.Gly1489Ala)
n.5050G>C
n.5052G>C
c.4820G>C (p.Gly1607Ala)
c.4814G>C (p.Gly1605Ala)
c.4706G>C (p.Gly1569Ala)
n.4835G>C
11g.77199696G>TCA381950813MYO7Ac.4730G>T (p.Gly1577Val)
c.2571G>T
c.4583G>T (p.Gly1528Val)
c.2159G>T (p.Gly720Val)
c.4616G>T (p.Gly1539Val)
n.2269G>T
c.4724G>T (p.Gly1575Val)
c.4697G>T (p.Gly1566Val)
c.4634G>T (p.Gly1545Val)
c.4505G>T (p.Gly1502Val)
c.4493G>T (p.Gly1498Val)
c.4466G>T (p.Gly1489Val)
n.5050G>T
n.5052G>T
c.4820G>T (p.Gly1607Val)
c.4814G>T (p.Gly1605Val)
c.4706G>T (p.Gly1569Val)
n.4835G>T
 gnomAD v4
11g.77199697G>ACA224849328MYO7Ac.4731G>A (p.Gly1577=)
c.2572G>A
c.4584G>A (p.Gly1528=)
c.2160G>A (p.Gly720=)
c.4617G>A (p.Gly1539=)
n.2270G>A
c.4725G>A (p.Gly1575=)
c.4698G>A (p.Gly1566=)
c.4635G>A (p.Gly1545=)
c.4506G>A (p.Gly1502=)
c.4494G>A (p.Gly1498=)
c.4467G>A (p.Gly1489=)
n.5051G>A
n.5053G>A
c.4821G>A (p.Gly1607=)
c.4815G>A (p.Gly1605=)
c.4707G>A (p.Gly1569=)
n.4836G>A
 ClinVar dbSNP gnomAD v4
11g.77199697G>CCA475796561MYO7Ac.4731G>C (p.Gly1577=)
c.2572G>C
c.4584G>C (p.Gly1528=)
c.2160G>C (p.Gly720=)
c.4617G>C (p.Gly1539=)
n.2270G>C
c.4725G>C (p.Gly1575=)
c.4698G>C (p.Gly1566=)
c.4635G>C (p.Gly1545=)
c.4506G>C (p.Gly1502=)
c.4494G>C (p.Gly1498=)
c.4467G>C (p.Gly1489=)
n.5051G>C
n.5053G>C
c.4821G>C (p.Gly1607=)
c.4815G>C (p.Gly1605=)
c.4707G>C (p.Gly1569=)
n.4836G>C
11g.77199697G=CA1984122717MYO7Ac.4731G= (p.Gly1577=)
c.2572G=
c.4584G= (p.Gly1528=)
c.2160G= (p.Gly720=)
c.4617G= (p.Gly1539=)
n.2270G=
c.4725G= (p.Gly1575=)
c.4698G= (p.Gly1566=)
c.4635G= (p.Gly1545=)
c.4506G= (p.Gly1502=)
c.4494G= (p.Gly1498=)
c.4467G= (p.Gly1489=)
n.5051G=
n.5053G=
c.4821G= (p.Gly1607=)
c.4815G= (p.Gly1605=)
c.4707G= (p.Gly1569=)
n.4836G=
11g.77199697G>TCA475796562MYO7Ac.4731G>T (p.Gly1577=)
c.2572G>T
c.4584G>T (p.Gly1528=)
c.2160G>T (p.Gly720=)
c.4617G>T (p.Gly1539=)
n.2270G>T
c.4725G>T (p.Gly1575=)
c.4698G>T (p.Gly1566=)
c.4635G>T (p.Gly1545=)
c.4506G>T (p.Gly1502=)
c.4494G>T (p.Gly1498=)
c.4467G>T (p.Gly1489=)
n.5051G>T
n.5053G>T
c.4821G>T (p.Gly1607=)
c.4815G>T (p.Gly1605=)
c.4707G>T (p.Gly1569=)
n.4836G>T
11g.77199698G>ACA381950814MYO7Ac.4732G>A (p.Asp1578Asn)
c.2573G>A
c.4585G>A (p.Asp1529Asn)
c.2161G>A (p.Asp721Asn)
c.4618G>A (p.Asp1540Asn)
n.2271G>A
c.4726G>A (p.Asp1576Asn)
c.4699G>A (p.Asp1567Asn)
c.4636G>A (p.Asp1546Asn)
c.4507G>A (p.Asp1503Asn)
c.4495G>A (p.Asp1499Asn)
c.4468G>A (p.Asp1490Asn)
n.5052G>A
n.5054G>A
c.4822G>A (p.Asp1608Asn)
c.4816G>A (p.Asp1606Asn)
c.4708G>A (p.Asp1570Asn)
n.4837G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77199698G>CCA381950815MYO7Ac.4732G>C (p.Asp1578His)
c.2573G>C
c.4585G>C (p.Asp1529His)
c.2161G>C (p.Asp721His)
c.4618G>C (p.Asp1540His)
n.2271G>C
c.4726G>C (p.Asp1576His)
c.4699G>C (p.Asp1567His)
c.4636G>C (p.Asp1546His)
c.4507G>C (p.Asp1503His)
c.4495G>C (p.Asp1499His)
c.4468G>C (p.Asp1490His)
n.5052G>C
n.5054G>C
c.4822G>C (p.Asp1608His)
c.4816G>C (p.Asp1606His)
c.4708G>C (p.Asp1570His)
n.4837G>C
11g.77199698G=CA1984122720MYO7Ac.4732G= (p.Asp1578=)
c.2573G=
c.4585G= (p.Asp1529=)
c.2161G= (p.Asp721=)
c.4618G= (p.Asp1540=)
n.2271G=
c.4726G= (p.Asp1576=)
c.4699G= (p.Asp1567=)
c.4636G= (p.Asp1546=)
c.4507G= (p.Asp1503=)
c.4495G= (p.Asp1499=)
c.4468G= (p.Asp1490=)
n.5052G=
n.5054G=
c.4822G= (p.Asp1608=)
c.4816G= (p.Asp1606=)
c.4708G= (p.Asp1570=)
n.4837G=
11g.77199698G>TCA6198531MYO7Ac.4732G>T (p.Asp1578Tyr)
c.2573G>T
c.4585G>T (p.Asp1529Tyr)
c.2161G>T (p.Asp721Tyr)
c.4618G>T (p.Asp1540Tyr)
n.2271G>T
c.4726G>T (p.Asp1576Tyr)
c.4699G>T (p.Asp1567Tyr)
c.4636G>T (p.Asp1546Tyr)
c.4507G>T (p.Asp1503Tyr)
c.4495G>T (p.Asp1499Tyr)
c.4468G>T (p.Asp1490Tyr)
n.5052G>T
n.5054G>T
c.4822G>T (p.Asp1608Tyr)
c.4816G>T (p.Asp1606Tyr)
c.4708G>T (p.Asp1570Tyr)
n.4837G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199699A=CA1984122728MYO7Ac.4733A= (p.Asp1578=)
c.2574A=
c.4586A= (p.Asp1529=)
c.2162A= (p.Asp721=)
c.4619A= (p.Asp1540=)
n.2272A=
c.4727A= (p.Asp1576=)
c.4700A= (p.Asp1567=)
c.4637A= (p.Asp1546=)
c.4508A= (p.Asp1503=)
c.4496A= (p.Asp1499=)
c.4469A= (p.Asp1490=)
n.5053A=
n.5055A=
c.4823A= (p.Asp1608=)
c.4817A= (p.Asp1606=)
c.4709A= (p.Asp1570=)
n.4838A=
11g.77199699A>CCA381950816MYO7Ac.4733A>C (p.Asp1578Ala)
c.2574A>C
c.4586A>C (p.Asp1529Ala)
c.2162A>C (p.Asp721Ala)
c.4619A>C (p.Asp1540Ala)
n.2272A>C
c.4727A>C (p.Asp1576Ala)
c.4700A>C (p.Asp1567Ala)
c.4637A>C (p.Asp1546Ala)
c.4508A>C (p.Asp1503Ala)
c.4496A>C (p.Asp1499Ala)
c.4469A>C (p.Asp1490Ala)
n.5053A>C
n.5055A>C
c.4823A>C (p.Asp1608Ala)
c.4817A>C (p.Asp1606Ala)
c.4709A>C (p.Asp1570Ala)
n.4838A>C
 gnomAD v4
11g.77199699A>GCA381950817MYO7Ac.4733A>G (p.Asp1578Gly)
c.2574A>G
c.4586A>G (p.Asp1529Gly)
c.2162A>G (p.Asp721Gly)
c.4619A>G (p.Asp1540Gly)
n.2272A>G
c.4727A>G (p.Asp1576Gly)
c.4700A>G (p.Asp1567Gly)
c.4637A>G (p.Asp1546Gly)
c.4508A>G (p.Asp1503Gly)
c.4496A>G (p.Asp1499Gly)
c.4469A>G (p.Asp1490Gly)
n.5053A>G
n.5055A>G
c.4823A>G (p.Asp1608Gly)
c.4817A>G (p.Asp1606Gly)
c.4709A>G (p.Asp1570Gly)
n.4838A>G
 dbSNP gnomAD v2 gnomAD v4
11g.77199699A>TCA381950818MYO7Ac.4733A>T (p.Asp1578Val)
c.2574A>T
c.4586A>T (p.Asp1529Val)
c.2162A>T (p.Asp721Val)
c.4619A>T (p.Asp1540Val)
n.2272A>T
c.4727A>T (p.Asp1576Val)
c.4700A>T (p.Asp1567Val)
c.4637A>T (p.Asp1546Val)
c.4508A>T (p.Asp1503Val)
c.4496A>T (p.Asp1499Val)
c.4469A>T (p.Asp1490Val)
n.5053A>T
n.5055A>T
c.4823A>T (p.Asp1608Val)
c.4817A>T (p.Asp1606Val)
c.4709A>T (p.Asp1570Val)
n.4838A>T
11g.77199700C>ACA381950820MYO7Ac.4734C>A (p.Asp1578Glu)
c.2575C>A
c.4587C>A (p.Asp1529Glu)
c.2163C>A (p.Asp721Glu)
c.4620C>A (p.Asp1540Glu)
n.2273C>A
c.4728C>A (p.Asp1576Glu)
c.4701C>A (p.Asp1567Glu)
c.4638C>A (p.Asp1546Glu)
c.4509C>A (p.Asp1503Glu)
c.4497C>A (p.Asp1499Glu)
c.4470C>A (p.Asp1490Glu)
n.5054C>A
n.5056C>A
c.4824C>A (p.Asp1608Glu)
c.4818C>A (p.Asp1606Glu)
c.4710C>A (p.Asp1570Glu)
n.4839C>A
11g.77199700C=CA1984122732MYO7Ac.4734C= (p.Asp1578=)
c.2575C=
c.4587C= (p.Asp1529=)
c.2163C= (p.Asp721=)
c.4620C= (p.Asp1540=)
n.2273C=
c.4728C= (p.Asp1576=)
c.4701C= (p.Asp1567=)
c.4638C= (p.Asp1546=)
c.4509C= (p.Asp1503=)
c.4497C= (p.Asp1499=)
c.4470C= (p.Asp1490=)
n.5054C=
n.5056C=
c.4824C= (p.Asp1608=)
c.4818C= (p.Asp1606=)
c.4710C= (p.Asp1570=)
n.4839C=
11g.77199700C>GCA381950819MYO7Ac.4734C>G (p.Asp1578Glu)
c.2575C>G
c.4587C>G (p.Asp1529Glu)
c.2163C>G (p.Asp721Glu)
c.4620C>G (p.Asp1540Glu)
n.2273C>G
c.4728C>G (p.Asp1576Glu)
c.4701C>G (p.Asp1567Glu)
c.4638C>G (p.Asp1546Glu)
c.4509C>G (p.Asp1503Glu)
c.4497C>G (p.Asp1499Glu)
c.4470C>G (p.Asp1490Glu)
n.5054C>G
n.5056C>G
c.4824C>G (p.Asp1608Glu)
c.4818C>G (p.Asp1606Glu)
c.4710C>G (p.Asp1570Glu)
n.4839C>G
11g.77199700C>TCA6198532MYO7Ac.4734C>T (p.Asp1578=)
c.2575C>T
c.4587C>T (p.Asp1529=)
c.2163C>T (p.Asp721=)
c.4620C>T (p.Asp1540=)
n.2273C>T
c.4728C>T (p.Asp1576=)
c.4701C>T (p.Asp1567=)
c.4638C>T (p.Asp1546=)
c.4509C>T (p.Asp1503=)
c.4497C>T (p.Asp1499=)
c.4470C>T (p.Asp1490=)
n.5054C>T
n.5056C>T
c.4824C>T (p.Asp1608=)
c.4818C>T (p.Asp1606=)
c.4710C>T (p.Asp1570=)
n.4839C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199701G>ACA6198533MYO7Ac.4735G>A (p.Glu1579Lys)
c.2576G>A
c.4588G>A (p.Glu1530Lys)
c.2164G>A (p.Glu722Lys)
c.4621G>A (p.Glu1541Lys)
n.2274G>A
c.4729G>A (p.Glu1577Lys)
c.4702G>A (p.Glu1568Lys)
c.4639G>A (p.Glu1547Lys)
c.4510G>A (p.Glu1504Lys)
c.4498G>A (p.Glu1500Lys)
c.4471G>A (p.Glu1491Lys)
n.5055G>A
n.5057G>A
c.4825G>A (p.Glu1609Lys)
c.4819G>A (p.Glu1607Lys)
c.4711G>A (p.Glu1571Lys)
n.4840G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199701G>CCA381950821MYO7Ac.4735G>C (p.Glu1579Gln)
c.2576G>C
c.4588G>C (p.Glu1530Gln)
c.2164G>C (p.Glu722Gln)
c.4621G>C (p.Glu1541Gln)
n.2274G>C
c.4729G>C (p.Glu1577Gln)
c.4702G>C (p.Glu1568Gln)
c.4639G>C (p.Glu1547Gln)
c.4510G>C (p.Glu1504Gln)
c.4498G>C (p.Glu1500Gln)
c.4471G>C (p.Glu1491Gln)
n.5055G>C
n.5057G>C
c.4825G>C (p.Glu1609Gln)
c.4819G>C (p.Glu1607Gln)
c.4711G>C (p.Glu1571Gln)
n.4840G>C
 ClinVar
11g.77199701G=CA1984122736MYO7Ac.4735G= (p.Glu1579=)
c.2576G=
c.4588G= (p.Glu1530=)
c.2164G= (p.Glu722=)
c.4621G= (p.Glu1541=)
n.2274G=
c.4729G= (p.Glu1577=)
c.4702G= (p.Glu1568=)
c.4639G= (p.Glu1547=)
c.4510G= (p.Glu1504=)
c.4498G= (p.Glu1500=)
c.4471G= (p.Glu1491=)
n.5055G=
n.5057G=
c.4825G= (p.Glu1609=)
c.4819G= (p.Glu1607=)
c.4711G= (p.Glu1571=)
n.4840G=
11g.77199701G>TCA381950822MYO7Ac.4735G>T (p.Glu1579Ter)
c.2576G>T
c.4588G>T (p.Glu1530Ter)
c.2164G>T (p.Glu722Ter)
c.4621G>T (p.Glu1541Ter)
n.2274G>T
c.4729G>T (p.Glu1577Ter)
c.4702G>T (p.Glu1568Ter)
c.4639G>T (p.Glu1547Ter)
c.4510G>T (p.Glu1504Ter)
c.4498G>T (p.Glu1500Ter)
c.4471G>T (p.Glu1491Ter)
n.5055G>T
n.5057G>T
c.4825G>T (p.Glu1609Ter)
c.4819G>T (p.Glu1607Ter)
c.4711G>T (p.Glu1571Ter)
n.4840G>T
11g.77199702A=CA1984122741MYO7Ac.4736A= (p.Glu1579=)
c.2577A=
c.4589A= (p.Glu1530=)
c.2165A= (p.Glu722=)
c.4622A= (p.Glu1541=)
n.2275A=
c.4730A= (p.Glu1577=)
c.4703A= (p.Glu1568=)
c.4640A= (p.Glu1547=)
c.4511A= (p.Glu1504=)
c.4499A= (p.Glu1500=)
c.4472A= (p.Glu1491=)
n.5056A=
n.5058A=
c.4826A= (p.Glu1609=)
c.4820A= (p.Glu1607=)
c.4712A= (p.Glu1571=)
n.4841A=
11g.77199702A>CCA381950823MYO7Ac.4736A>C (p.Glu1579Ala)
c.2577A>C
c.4589A>C (p.Glu1530Ala)
c.2165A>C (p.Glu722Ala)
c.4622A>C (p.Glu1541Ala)
n.2275A>C
c.4730A>C (p.Glu1577Ala)
c.4703A>C (p.Glu1568Ala)
c.4640A>C (p.Glu1547Ala)
c.4511A>C (p.Glu1504Ala)
c.4499A>C (p.Glu1500Ala)
c.4472A>C (p.Glu1491Ala)
n.5056A>C
n.5058A>C
c.4826A>C (p.Glu1609Ala)
c.4820A>C (p.Glu1607Ala)
c.4712A>C (p.Glu1571Ala)
n.4841A>C
11g.77199702A>GCA381950824MYO7Ac.4736A>G (p.Glu1579Gly)
c.2577A>G
c.4589A>G (p.Glu1530Gly)
c.2165A>G (p.Glu722Gly)
c.4622A>G (p.Glu1541Gly)
n.2275A>G
c.4730A>G (p.Glu1577Gly)
c.4703A>G (p.Glu1568Gly)
c.4640A>G (p.Glu1547Gly)
c.4511A>G (p.Glu1504Gly)
c.4499A>G (p.Glu1500Gly)
c.4472A>G (p.Glu1491Gly)
n.5056A>G
n.5058A>G
c.4826A>G (p.Glu1609Gly)
c.4820A>G (p.Glu1607Gly)
c.4712A>G (p.Glu1571Gly)
n.4841A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77199702A>TCA381950825MYO7Ac.4736A>T (p.Glu1579Val)
c.2577A>T
c.4589A>T (p.Glu1530Val)
c.2165A>T (p.Glu722Val)
c.4622A>T (p.Glu1541Val)
n.2275A>T
c.4730A>T (p.Glu1577Val)
c.4703A>T (p.Glu1568Val)
c.4640A>T (p.Glu1547Val)
c.4511A>T (p.Glu1504Val)
c.4499A>T (p.Glu1500Val)
c.4472A>T (p.Glu1491Val)
n.5056A>T
n.5058A>T
c.4826A>T (p.Glu1609Val)
c.4820A>T (p.Glu1607Val)
c.4712A>T (p.Glu1571Val)
n.4841A>T
 dbSNP gnomAD v2 gnomAD v4
11g.77199703A=CA1984122743MYO7Ac.4737A= (p.Glu1579=)
c.2578A=
c.4590A= (p.Glu1530=)
c.2166A= (p.Glu722=)
c.4623A= (p.Glu1541=)
n.2276A=
c.4731A= (p.Glu1577=)
c.4704A= (p.Glu1568=)
c.4641A= (p.Glu1547=)
c.4512A= (p.Glu1504=)
c.4500A= (p.Glu1500=)
c.4473A= (p.Glu1491=)
n.5057A=
n.5059A=
c.4827A= (p.Glu1609=)
c.4821A= (p.Glu1607=)
c.4713A= (p.Glu1571=)
n.4842A=
11g.77199703A>CCA381950826MYO7Ac.4737A>C (p.Glu1579Asp)
c.2578A>C
c.4590A>C (p.Glu1530Asp)
c.2166A>C (p.Glu722Asp)
c.4623A>C (p.Glu1541Asp)
n.2276A>C
c.4731A>C (p.Glu1577Asp)
c.4704A>C (p.Glu1568Asp)
c.4641A>C (p.Glu1547Asp)
c.4512A>C (p.Glu1504Asp)
c.4500A>C (p.Glu1500Asp)
c.4473A>C (p.Glu1491Asp)
n.5057A>C
n.5059A>C
c.4827A>C (p.Glu1609Asp)
c.4821A>C (p.Glu1607Asp)
c.4713A>C (p.Glu1571Asp)
n.4842A>C
11g.77199703A>GCA475796563MYO7Ac.4737A>G (p.Glu1579=)
c.2578A>G
c.4590A>G (p.Glu1530=)
c.2166A>G (p.Glu722=)
c.4623A>G (p.Glu1541=)
n.2276A>G
c.4731A>G (p.Glu1577=)
c.4704A>G (p.Glu1568=)
c.4641A>G (p.Glu1547=)
c.4512A>G (p.Glu1504=)
c.4500A>G (p.Glu1500=)
c.4473A>G (p.Glu1491=)
n.5057A>G
n.5059A>G
c.4827A>G (p.Glu1609=)
c.4821A>G (p.Glu1607=)
c.4713A>G (p.Glu1571=)
n.4842A>G
 ClinVar dbSNP
11g.77199703A>TCA381950827MYO7Ac.4737A>T (p.Glu1579Asp)
c.2578A>T
c.4590A>T (p.Glu1530Asp)
c.2166A>T (p.Glu722Asp)
c.4623A>T (p.Glu1541Asp)
n.2276A>T
c.4731A>T (p.Glu1577Asp)
c.4704A>T (p.Glu1568Asp)
c.4641A>T (p.Glu1547Asp)
c.4512A>T (p.Glu1504Asp)
c.4500A>T (p.Glu1500Asp)
c.4473A>T (p.Glu1491Asp)
n.5057A>T
n.5059A>T
c.4827A>T (p.Glu1609Asp)
c.4821A>T (p.Glu1607Asp)
c.4713A>T (p.Glu1571Asp)
n.4842A>T
11g.77199704T>ACA381950828MYO7Ac.4738T>A (p.Tyr1580Asn)
c.2579T>A
c.4591T>A (p.Tyr1531Asn)
c.2167T>A (p.Tyr723Asn)
c.4624T>A (p.Tyr1542Asn)
n.2277T>A
c.4732T>A (p.Tyr1578Asn)
c.4705T>A (p.Tyr1569Asn)
c.4642T>A (p.Tyr1548Asn)
c.4513T>A (p.Tyr1505Asn)
c.4501T>A (p.Tyr1501Asn)
c.4474T>A (p.Tyr1492Asn)
n.5058T>A
n.5060T>A
c.4828T>A (p.Tyr1610Asn)
c.4822T>A (p.Tyr1608Asn)
c.4714T>A (p.Tyr1572Asn)
n.4843T>A
11g.77199704T>CCA381950829MYO7Ac.4738T>C (p.Tyr1580His)
c.2579T>C
c.4591T>C (p.Tyr1531His)
c.2167T>C (p.Tyr723His)
c.4624T>C (p.Tyr1542His)
n.2277T>C
c.4732T>C (p.Tyr1578His)
c.4705T>C (p.Tyr1569His)
c.4642T>C (p.Tyr1548His)
c.4513T>C (p.Tyr1505His)
c.4501T>C (p.Tyr1501His)
c.4474T>C (p.Tyr1492His)
n.5058T>C
n.5060T>C
c.4828T>C (p.Tyr1610His)
c.4822T>C (p.Tyr1608His)
c.4714T>C (p.Tyr1572His)
n.4843T>C
11g.77199704T>GCA381950830MYO7Ac.4738T>G (p.Tyr1580Asp)
c.2579T>G
c.4591T>G (p.Tyr1531Asp)
c.2167T>G (p.Tyr723Asp)
c.4624T>G (p.Tyr1542Asp)
n.2277T>G
c.4732T>G (p.Tyr1578Asp)
c.4705T>G (p.Tyr1569Asp)
c.4642T>G (p.Tyr1548Asp)
c.4513T>G (p.Tyr1505Asp)
c.4501T>G (p.Tyr1501Asp)
c.4474T>G (p.Tyr1492Asp)
n.5058T>G
n.5060T>G
c.4828T>G (p.Tyr1610Asp)
c.4822T>G (p.Tyr1608Asp)
c.4714T>G (p.Tyr1572Asp)
n.4843T>G
11g.77199705A=CA1984122750MYO7Ac.4739A= (p.Tyr1580=)
c.2580A=
c.4592A= (p.Tyr1531=)
c.2168A= (p.Tyr723=)
c.4625A= (p.Tyr1542=)
n.2278A=
c.4733A= (p.Tyr1578=)
c.4706A= (p.Tyr1569=)
c.4643A= (p.Tyr1548=)
c.4514A= (p.Tyr1505=)
c.4502A= (p.Tyr1501=)
c.4475A= (p.Tyr1492=)
n.5059A=
n.5061A=
c.4829A= (p.Tyr1610=)
c.4823A= (p.Tyr1608=)
c.4715A= (p.Tyr1572=)
n.4844A=
11g.77199705A>CCA381950831MYO7Ac.4739A>C (p.Tyr1580Ser)
c.2580A>C
c.4592A>C (p.Tyr1531Ser)
c.2168A>C (p.Tyr723Ser)
c.4625A>C (p.Tyr1542Ser)
n.2278A>C
c.4733A>C (p.Tyr1578Ser)
c.4706A>C (p.Tyr1569Ser)
c.4643A>C (p.Tyr1548Ser)
c.4514A>C (p.Tyr1505Ser)
c.4502A>C (p.Tyr1501Ser)
c.4475A>C (p.Tyr1492Ser)
n.5059A>C
n.5061A>C
c.4829A>C (p.Tyr1610Ser)
c.4823A>C (p.Tyr1608Ser)
c.4715A>C (p.Tyr1572Ser)
n.4844A>C
11g.77199705A>GCA132349MYO7Ac.4739A>G (p.Tyr1580Cys)
c.2580A>G
c.4592A>G (p.Tyr1531Cys)
c.2168A>G (p.Tyr723Cys)
c.4625A>G (p.Tyr1542Cys)
n.2278A>G
c.4733A>G (p.Tyr1578Cys)
c.4706A>G (p.Tyr1569Cys)
c.4643A>G (p.Tyr1548Cys)
c.4514A>G (p.Tyr1505Cys)
c.4502A>G (p.Tyr1501Cys)
c.4475A>G (p.Tyr1492Cys)
n.5059A>G
n.5061A>G
c.4829A>G (p.Tyr1610Cys)
c.4823A>G (p.Tyr1608Cys)
c.4715A>G (p.Tyr1572Cys)
n.4844A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199705A>TCA381950832MYO7Ac.4739A>T (p.Tyr1580Phe)
c.2580A>T
c.4592A>T (p.Tyr1531Phe)
c.2168A>T (p.Tyr723Phe)
c.4625A>T (p.Tyr1542Phe)
n.2278A>T
c.4733A>T (p.Tyr1578Phe)
c.4706A>T (p.Tyr1569Phe)
c.4643A>T (p.Tyr1548Phe)
c.4514A>T (p.Tyr1505Phe)
c.4502A>T (p.Tyr1501Phe)
c.4475A>T (p.Tyr1492Phe)
n.5059A>T
n.5061A>T
c.4829A>T (p.Tyr1610Phe)
c.4823A>T (p.Tyr1608Phe)
c.4715A>T (p.Tyr1572Phe)
n.4844A>T
11g.77199706C>ACA381950834MYO7Ac.4740C>A (p.Tyr1580Ter)
c.2581C>A
c.4593C>A (p.Tyr1531Ter)
c.2169C>A (p.Tyr723Ter)
c.4626C>A (p.Tyr1542Ter)
n.2279C>A
c.4734C>A (p.Tyr1578Ter)
c.4707C>A (p.Tyr1569Ter)
c.4644C>A (p.Tyr1548Ter)
c.4515C>A (p.Tyr1505Ter)
c.4503C>A (p.Tyr1501Ter)
c.4476C>A (p.Tyr1492Ter)
n.5060C>A
n.5062C>A
c.4830C>A (p.Tyr1610Ter)
c.4824C>A (p.Tyr1608Ter)
c.4716C>A (p.Tyr1572Ter)
n.4845C>A
11g.77199706C>GCA381950833MYO7Ac.4740C>G (p.Tyr1580Ter)
c.2581C>G
c.4593C>G (p.Tyr1531Ter)
c.2169C>G (p.Tyr723Ter)
c.4626C>G (p.Tyr1542Ter)
n.2279C>G
c.4734C>G (p.Tyr1578Ter)
c.4707C>G (p.Tyr1569Ter)
c.4644C>G (p.Tyr1548Ter)
c.4515C>G (p.Tyr1505Ter)
c.4503C>G (p.Tyr1501Ter)
c.4476C>G (p.Tyr1492Ter)
n.5060C>G
n.5062C>G
c.4830C>G (p.Tyr1610Ter)
c.4824C>G (p.Tyr1608Ter)
c.4716C>G (p.Tyr1572Ter)
n.4845C>G
11g.77199706C>TCA475796564MYO7Ac.4740C>T (p.Tyr1580=)
c.2581C>T
c.4593C>T (p.Tyr1531=)
c.2169C>T (p.Tyr723=)
c.4626C>T (p.Tyr1542=)
n.2279C>T
c.4734C>T (p.Tyr1578=)
c.4707C>T (p.Tyr1569=)
c.4644C>T (p.Tyr1548=)
c.4515C>T (p.Tyr1505=)
c.4503C>T (p.Tyr1501=)
c.4476C>T (p.Tyr1492=)
n.5060C>T
n.5062C>T
c.4830C>T (p.Tyr1610=)
c.4824C>T (p.Tyr1608=)
c.4716C>T (p.Tyr1572=)
n.4845C>T
11g.77199707A>CCA381950835MYO7Ac.4741A>C (p.Thr1581Pro)
c.2582A>C
c.4594A>C (p.Thr1532Pro)
c.2170A>C (p.Thr724Pro)
c.4627A>C (p.Thr1543Pro)
n.2280A>C
c.4735A>C (p.Thr1579Pro)
c.4708A>C (p.Thr1570Pro)
c.4645A>C (p.Thr1549Pro)
c.4516A>C (p.Thr1506Pro)
c.4504A>C (p.Thr1502Pro)
c.4477A>C (p.Thr1493Pro)
n.5061A>C
n.5063A>C
c.4831A>C (p.Thr1611Pro)
c.4825A>C (p.Thr1609Pro)
c.4717A>C (p.Thr1573Pro)
n.4846A>C
11g.77199707A>GCA381950836MYO7Ac.4741A>G (p.Thr1581Ala)
c.2582A>G
c.4594A>G (p.Thr1532Ala)
c.2170A>G (p.Thr724Ala)
c.4627A>G (p.Thr1543Ala)
n.2280A>G
c.4735A>G (p.Thr1579Ala)
c.4708A>G (p.Thr1570Ala)
c.4645A>G (p.Thr1549Ala)
c.4516A>G (p.Thr1506Ala)
c.4504A>G (p.Thr1502Ala)
c.4477A>G (p.Thr1493Ala)
n.5061A>G
n.5063A>G
c.4831A>G (p.Thr1611Ala)
c.4825A>G (p.Thr1609Ala)
c.4717A>G (p.Thr1573Ala)
n.4846A>G
11g.77199707A>TCA381950837MYO7Ac.4741A>T (p.Thr1581Ser)
c.2582A>T
c.4594A>T (p.Thr1532Ser)
c.2170A>T (p.Thr724Ser)
c.4627A>T (p.Thr1543Ser)
n.2280A>T
c.4735A>T (p.Thr1579Ser)
c.4708A>T (p.Thr1570Ser)
c.4645A>T (p.Thr1549Ser)
c.4516A>T (p.Thr1506Ser)
c.4504A>T (p.Thr1502Ser)
c.4477A>T (p.Thr1493Ser)
n.5061A>T
n.5063A>T
c.4831A>T (p.Thr1611Ser)
c.4825A>T (p.Thr1609Ser)
c.4717A>T (p.Thr1573Ser)
n.4846A>T
11g.77199708C>ACA381950838MYO7Ac.4742C>A (p.Thr1581Asn)
c.2583C>A
c.4595C>A (p.Thr1532Asn)
c.2171C>A (p.Thr724Asn)
c.4628C>A (p.Thr1543Asn)
n.2281C>A
c.4736C>A (p.Thr1579Asn)
c.4709C>A (p.Thr1570Asn)
c.4646C>A (p.Thr1549Asn)
c.4517C>A (p.Thr1506Asn)
c.4505C>A (p.Thr1502Asn)
c.4478C>A (p.Thr1493Asn)
n.5062C>A
n.5064C>A
c.4832C>A (p.Thr1611Asn)
c.4826C>A (p.Thr1609Asn)
c.4718C>A (p.Thr1573Asn)
n.4847C>A
11g.77199708C=CA1984122756MYO7Ac.4742C= (p.Thr1581=)
c.2583C=
c.4595C= (p.Thr1532=)
c.2171C= (p.Thr724=)
c.4628C= (p.Thr1543=)
n.2281C=
c.4736C= (p.Thr1579=)
c.4709C= (p.Thr1570=)
c.4646C= (p.Thr1549=)
c.4517C= (p.Thr1506=)
c.4505C= (p.Thr1502=)
c.4478C= (p.Thr1493=)
n.5062C=
n.5064C=
c.4832C= (p.Thr1611=)
c.4826C= (p.Thr1609=)
c.4718C= (p.Thr1573=)
n.4847C=
11g.77199708C>GCA381950839MYO7Ac.4742C>G (p.Thr1581Ser)
c.2583C>G
c.4595C>G (p.Thr1532Ser)
c.2171C>G (p.Thr724Ser)
c.4628C>G (p.Thr1543Ser)
n.2281C>G
c.4736C>G (p.Thr1579Ser)
c.4709C>G (p.Thr1570Ser)
c.4646C>G (p.Thr1549Ser)
c.4517C>G (p.Thr1506Ser)
c.4505C>G (p.Thr1502Ser)
c.4478C>G (p.Thr1493Ser)
n.5062C>G
n.5064C>G
c.4832C>G (p.Thr1611Ser)
c.4826C>G (p.Thr1609Ser)
c.4718C>G (p.Thr1573Ser)
n.4847C>G
 dbSNP gnomAD v2 gnomAD v4
11g.77199708C>TCA381950840MYO7Ac.4742C>T (p.Thr1581Ile)
c.2583C>T
c.4595C>T (p.Thr1532Ile)
c.2171C>T (p.Thr724Ile)
c.4628C>T (p.Thr1543Ile)
n.2281C>T
c.4736C>T (p.Thr1579Ile)
c.4709C>T (p.Thr1570Ile)
c.4646C>T (p.Thr1549Ile)
c.4517C>T (p.Thr1506Ile)
c.4505C>T (p.Thr1502Ile)
c.4478C>T (p.Thr1493Ile)
n.5062C>T
n.5064C>T
c.4832C>T (p.Thr1611Ile)
c.4826C>T (p.Thr1609Ile)
c.4718C>T (p.Thr1573Ile)
n.4847C>T
 dbSNP gnomAD v3 gnomAD v4
11g.77199709dupCA2842617579MYO7Ac.4743dup (p.Phe1582LeufsTer7)
c.2584dup
c.4596dup (p.Phe1533LeufsTer7)
c.2172dup (p.Phe725LeufsTer7)
c.4629dup (p.Phe1544LeufsTer7)
n.2282dup
c.4737dup (p.Phe1580LeufsTer7)
c.4710dup (p.Phe1571LeufsTer7)
c.4647dup (p.Phe1550LeufsTer7)
c.4518dup (p.Phe1507LeufsTer7)
c.4506dup (p.Phe1503LeufsTer7)
c.4479dup (p.Phe1494LeufsTer7)
n.5063dup
n.5065dup
c.4833dup (p.Phe1612LeufsTer7)
c.4827dup (p.Phe1610LeufsTer7)
c.4719dup (p.Phe1574LeufsTer7)
n.4848dup
11g.77199709C>ACA475796565MYO7Ac.4743C>A (p.Thr1581=)
c.2584C>A
c.4596C>A (p.Thr1532=)
c.2172C>A (p.Thr724=)
c.4629C>A (p.Thr1543=)
n.2282C>A
c.4737C>A (p.Thr1579=)
c.4710C>A (p.Thr1570=)
c.4647C>A (p.Thr1549=)
c.4518C>A (p.Thr1506=)
c.4506C>A (p.Thr1502=)
c.4479C>A (p.Thr1493=)
n.5063C>A
n.5065C>A
c.4833C>A (p.Thr1611=)
c.4827C>A (p.Thr1609=)
c.4719C>A (p.Thr1573=)
n.4848C>A
 gnomAD v4
11g.77199709C>GCA475796566MYO7Ac.4743C>G (p.Thr1581=)
c.2584C>G
c.4596C>G (p.Thr1532=)
c.2172C>G (p.Thr724=)
c.4629C>G (p.Thr1543=)
n.2282C>G
c.4737C>G (p.Thr1579=)
c.4710C>G (p.Thr1570=)
c.4647C>G (p.Thr1549=)
c.4518C>G (p.Thr1506=)
c.4506C>G (p.Thr1502=)
c.4479C>G (p.Thr1493=)
n.5063C>G
n.5065C>G
c.4833C>G (p.Thr1611=)
c.4827C>G (p.Thr1609=)
c.4719C>G (p.Thr1573=)
n.4848C>G
11g.77199709C>TCA475796567MYO7Ac.4743C>T (p.Thr1581=)
c.2584C>T
c.4596C>T (p.Thr1532=)
c.2172C>T (p.Thr724=)
c.4629C>T (p.Thr1543=)
n.2282C>T
c.4737C>T (p.Thr1579=)
c.4710C>T (p.Thr1570=)
c.4647C>T (p.Thr1549=)
c.4518C>T (p.Thr1506=)
c.4506C>T (p.Thr1502=)
c.4479C>T (p.Thr1493=)
n.5063C>T
n.5065C>T
c.4833C>T (p.Thr1611=)
c.4827C>T (p.Thr1609=)
c.4719C>T (p.Thr1573=)
n.4848C>T
11g.77199710T>ACA381950843MYO7Ac.4744T>A (p.Phe1582Ile)
c.2585T>A
c.4597T>A (p.Phe1533Ile)
c.2173T>A (p.Phe725Ile)
c.4630T>A (p.Phe1544Ile)
n.2283T>A
c.4738T>A (p.Phe1580Ile)
c.4711T>A (p.Phe1571Ile)
c.4648T>A (p.Phe1550Ile)
c.4519T>A (p.Phe1507Ile)
c.4507T>A (p.Phe1503Ile)
c.4480T>A (p.Phe1494Ile)
n.5064T>A
n.5066T>A
c.4834T>A (p.Phe1612Ile)
c.4828T>A (p.Phe1610Ile)
c.4720T>A (p.Phe1574Ile)
n.4849T>A
11g.77199710T>CCA381950841MYO7Ac.4744T>C (p.Phe1582Leu)
c.2585T>C
c.4597T>C (p.Phe1533Leu)
c.2173T>C (p.Phe725Leu)
c.4630T>C (p.Phe1544Leu)
n.2283T>C
c.4738T>C (p.Phe1580Leu)
c.4711T>C (p.Phe1571Leu)
c.4648T>C (p.Phe1550Leu)
c.4519T>C (p.Phe1507Leu)
c.4507T>C (p.Phe1503Leu)
c.4480T>C (p.Phe1494Leu)
n.5064T>C
n.5066T>C
c.4834T>C (p.Phe1612Leu)
c.4828T>C (p.Phe1610Leu)
c.4720T>C (p.Phe1574Leu)
n.4849T>C
11g.77199710T>GCA381950842MYO7Ac.4744T>G (p.Phe1582Val)
c.2585T>G
c.4597T>G (p.Phe1533Val)
c.2173T>G (p.Phe725Val)
c.4630T>G (p.Phe1544Val)
n.2283T>G
c.4738T>G (p.Phe1580Val)
c.4711T>G (p.Phe1571Val)
c.4648T>G (p.Phe1550Val)
c.4519T>G (p.Phe1507Val)
c.4507T>G (p.Phe1503Val)
c.4480T>G (p.Phe1494Val)
n.5064T>G
n.5066T>G
c.4834T>G (p.Phe1612Val)
c.4828T>G (p.Phe1610Val)
c.4720T>G (p.Phe1574Val)
n.4849T>G
11g.77199711T>ACA381950844MYO7Ac.4745T>A (p.Phe1582Tyr)
c.2586T>A
c.4598T>A (p.Phe1533Tyr)
c.2174T>A (p.Phe725Tyr)
c.4631T>A (p.Phe1544Tyr)
n.2284T>A
c.4739T>A (p.Phe1580Tyr)
c.4712T>A (p.Phe1571Tyr)
c.4649T>A (p.Phe1550Tyr)
c.4520T>A (p.Phe1507Tyr)
c.4508T>A (p.Phe1503Tyr)
c.4481T>A (p.Phe1494Tyr)
n.5065T>A
n.5067T>A
c.4835T>A (p.Phe1612Tyr)
c.4829T>A (p.Phe1610Tyr)
c.4721T>A (p.Phe1574Tyr)
n.4850T>A
 gnomAD v4
11g.77199711T>CCA381950845MYO7Ac.4745T>C (p.Phe1582Ser)
c.2586T>C
c.4598T>C (p.Phe1533Ser)
c.2174T>C (p.Phe725Ser)
c.4631T>C (p.Phe1544Ser)
n.2284T>C
c.4739T>C (p.Phe1580Ser)
c.4712T>C (p.Phe1571Ser)
c.4649T>C (p.Phe1550Ser)
c.4520T>C (p.Phe1507Ser)
c.4508T>C (p.Phe1503Ser)
c.4481T>C (p.Phe1494Ser)
n.5065T>C
n.5067T>C
c.4835T>C (p.Phe1612Ser)
c.4829T>C (p.Phe1610Ser)
c.4721T>C (p.Phe1574Ser)
n.4850T>C
11g.77199711T>GCA381950846MYO7Ac.4745T>G (p.Phe1582Cys)
c.2586T>G
c.4598T>G (p.Phe1533Cys)
c.2174T>G (p.Phe725Cys)
c.4631T>G (p.Phe1544Cys)
n.2284T>G
c.4739T>G (p.Phe1580Cys)
c.4712T>G (p.Phe1571Cys)
c.4649T>G (p.Phe1550Cys)
c.4520T>G (p.Phe1507Cys)
c.4508T>G (p.Phe1503Cys)
c.4481T>G (p.Phe1494Cys)
n.5065T>G
n.5067T>G
c.4835T>G (p.Phe1612Cys)
c.4829T>G (p.Phe1610Cys)
c.4721T>G (p.Phe1574Cys)
n.4850T>G
11g.77199712C>ACA381950847MYO7Ac.4746C>A (p.Phe1582Leu)
c.2587C>A
c.4599C>A (p.Phe1533Leu)
c.2175C>A (p.Phe725Leu)
c.4632C>A (p.Phe1544Leu)
n.2285C>A
c.4740C>A (p.Phe1580Leu)
c.4713C>A (p.Phe1571Leu)
c.4650C>A (p.Phe1550Leu)
c.4521C>A (p.Phe1507Leu)
c.4509C>A (p.Phe1503Leu)
c.4482C>A (p.Phe1494Leu)
n.5066C>A
n.5068C>A
c.4836C>A (p.Phe1612Leu)
c.4830C>A (p.Phe1610Leu)
c.4722C>A (p.Phe1574Leu)
n.4851C>A
11g.77199712C=CA1984122759MYO7Ac.4746C= (p.Phe1582=)
c.2587C=
c.4599C= (p.Phe1533=)
c.2175C= (p.Phe725=)
c.4632C= (p.Phe1544=)
n.2285C=
c.4740C= (p.Phe1580=)
c.4713C= (p.Phe1571=)
c.4650C= (p.Phe1550=)
c.4521C= (p.Phe1507=)
c.4509C= (p.Phe1503=)
c.4482C= (p.Phe1494=)
n.5066C=
n.5068C=
c.4836C= (p.Phe1612=)
c.4830C= (p.Phe1610=)
c.4722C= (p.Phe1574=)
n.4851C=
11g.77199712C>GCA6198534MYO7Ac.4746C>G (p.Phe1582Leu)
c.2587C>G
c.4599C>G (p.Phe1533Leu)
c.2175C>G (p.Phe725Leu)
c.4632C>G (p.Phe1544Leu)
n.2285C>G
c.4740C>G (p.Phe1580Leu)
c.4713C>G (p.Phe1571Leu)
c.4650C>G (p.Phe1550Leu)
c.4521C>G (p.Phe1507Leu)
c.4509C>G (p.Phe1503Leu)
c.4482C>G (p.Phe1494Leu)
n.5066C>G
n.5068C>G
c.4836C>G (p.Phe1612Leu)
c.4830C>G (p.Phe1610Leu)
c.4722C>G (p.Phe1574Leu)
n.4851C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199712C>TCA475796568MYO7Ac.4746C>T (p.Phe1582=)
c.2587C>T
c.4599C>T (p.Phe1533=)
c.2175C>T (p.Phe725=)
c.4632C>T (p.Phe1544=)
n.2285C>T
c.4740C>T (p.Phe1580=)
c.4713C>T (p.Phe1571=)
c.4650C>T (p.Phe1550=)
c.4521C>T (p.Phe1507=)
c.4509C>T (p.Phe1503=)
c.4482C>T (p.Phe1494=)
n.5066C>T
n.5068C>T
c.4836C>T (p.Phe1612=)
c.4830C>T (p.Phe1610=)
c.4722C>T (p.Phe1574=)
n.4851C>T
 gnomAD v4
11g.77199713A>CCA381950850MYO7Ac.4747A>C (p.Thr1583Pro)
c.2588A>C
c.4600A>C (p.Thr1534Pro)
c.2176A>C (p.Thr726Pro)
c.4633A>C (p.Thr1545Pro)
n.2286A>C
c.4741A>C (p.Thr1581Pro)
c.4714A>C (p.Thr1572Pro)
c.4651A>C (p.Thr1551Pro)
c.4522A>C (p.Thr1508Pro)
c.4510A>C (p.Thr1504Pro)
c.4483A>C (p.Thr1495Pro)
n.5067A>C
n.5069A>C
c.4837A>C (p.Thr1613Pro)
c.4831A>C (p.Thr1611Pro)
c.4723A>C (p.Thr1575Pro)
n.4852A>C
11g.77199713A>GCA381950848MYO7Ac.4747A>G (p.Thr1583Ala)
c.2588A>G
c.4600A>G (p.Thr1534Ala)
c.2176A>G (p.Thr726Ala)
c.4633A>G (p.Thr1545Ala)
n.2286A>G
c.4741A>G (p.Thr1581Ala)
c.4714A>G (p.Thr1572Ala)
c.4651A>G (p.Thr1551Ala)
c.4522A>G (p.Thr1508Ala)
c.4510A>G (p.Thr1504Ala)
c.4483A>G (p.Thr1495Ala)
n.5067A>G
n.5069A>G
c.4837A>G (p.Thr1613Ala)
c.4831A>G (p.Thr1611Ala)
c.4723A>G (p.Thr1575Ala)
n.4852A>G
11g.77199713A>TCA381950849MYO7Ac.4747A>T (p.Thr1583Ser)
c.2588A>T
c.4600A>T (p.Thr1534Ser)
c.2176A>T (p.Thr726Ser)
c.4633A>T (p.Thr1545Ser)
n.2286A>T
c.4741A>T (p.Thr1581Ser)
c.4714A>T (p.Thr1572Ser)
c.4651A>T (p.Thr1551Ser)
c.4522A>T (p.Thr1508Ser)
c.4510A>T (p.Thr1504Ser)
c.4483A>T (p.Thr1495Ser)
n.5067A>T
n.5069A>T
c.4837A>T (p.Thr1613Ser)
c.4831A>T (p.Thr1611Ser)
c.4723A>T (p.Thr1575Ser)
n.4852A>T
11g.77199714C>ACA381950851MYO7Ac.4748C>A (p.Thr1583Asn)
c.2589C>A
c.4601C>A (p.Thr1534Asn)
c.2177C>A (p.Thr726Asn)
c.4634C>A (p.Thr1545Asn)
n.2287C>A
c.4742C>A (p.Thr1581Asn)
c.4715C>A (p.Thr1572Asn)
c.4652C>A (p.Thr1551Asn)
c.4523C>A (p.Thr1508Asn)
c.4511C>A (p.Thr1504Asn)
c.4484C>A (p.Thr1495Asn)
n.5068C>A
n.5070C>A
c.4838C>A (p.Thr1613Asn)
c.4832C>A (p.Thr1611Asn)
c.4724C>A (p.Thr1575Asn)
n.4853C>A
11g.77199714C=CA1984122762MYO7Ac.4748C= (p.Thr1583=)
c.2589C=
c.4601C= (p.Thr1534=)
c.2177C= (p.Thr726=)
c.4634C= (p.Thr1545=)
n.2287C=
c.4742C= (p.Thr1581=)
c.4715C= (p.Thr1572=)
c.4652C= (p.Thr1551=)
c.4523C= (p.Thr1508=)
c.4511C= (p.Thr1504=)
c.4484C= (p.Thr1495=)
n.5068C=
n.5070C=
c.4838C= (p.Thr1613=)
c.4832C= (p.Thr1611=)
c.4724C= (p.Thr1575=)
n.4853C=
11g.77199714C>GCA381950852MYO7Ac.4748C>G (p.Thr1583Ser)
c.2589C>G
c.4601C>G (p.Thr1534Ser)
c.2177C>G (p.Thr726Ser)
c.4634C>G (p.Thr1545Ser)
n.2287C>G
c.4742C>G (p.Thr1581Ser)
c.4715C>G (p.Thr1572Ser)
c.4652C>G (p.Thr1551Ser)
c.4523C>G (p.Thr1508Ser)
c.4511C>G (p.Thr1504Ser)
c.4484C>G (p.Thr1495Ser)
n.5068C>G
n.5070C>G
c.4838C>G (p.Thr1613Ser)
c.4832C>G (p.Thr1611Ser)
c.4724C>G (p.Thr1575Ser)
n.4853C>G
11g.77199714C>TCA6198535MYO7Ac.4748C>T (p.Thr1583Ile)
c.2589C>T
c.4601C>T (p.Thr1534Ile)
c.2177C>T (p.Thr726Ile)
c.4634C>T (p.Thr1545Ile)
n.2287C>T
c.4742C>T (p.Thr1581Ile)
c.4715C>T (p.Thr1572Ile)
c.4652C>T (p.Thr1551Ile)
c.4523C>T (p.Thr1508Ile)
c.4511C>T (p.Thr1504Ile)
c.4484C>T (p.Thr1495Ile)
n.5068C>T
n.5070C>T
c.4838C>T (p.Thr1613Ile)
c.4832C>T (p.Thr1611Ile)
c.4724C>T (p.Thr1575Ile)
n.4853C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199715C>ACA475796569MYO7Ac.4749C>A (p.Thr1583=)
c.2590C>A
c.4602C>A (p.Thr1534=)
c.2178C>A (p.Thr726=)
c.4635C>A (p.Thr1545=)
n.2288C>A
c.4743C>A (p.Thr1581=)
c.4716C>A (p.Thr1572=)
c.4653C>A (p.Thr1551=)
c.4524C>A (p.Thr1508=)
c.4512C>A (p.Thr1504=)
c.4485C>A (p.Thr1495=)
n.5069C>A
n.5071C>A
c.4839C>A (p.Thr1613=)
c.4833C>A (p.Thr1611=)
c.4725C>A (p.Thr1575=)
n.4854C>A
11g.77199715C=CA1984122766MYO7Ac.4749C= (p.Thr1583=)
c.2590C=
c.4602C= (p.Thr1534=)
c.2178C= (p.Thr726=)
c.4635C= (p.Thr1545=)
n.2288C=
c.4743C= (p.Thr1581=)
c.4716C= (p.Thr1572=)
c.4653C= (p.Thr1551=)
c.4524C= (p.Thr1508=)
c.4512C= (p.Thr1504=)
c.4485C= (p.Thr1495=)
n.5069C=
n.5071C=
c.4839C= (p.Thr1613=)
c.4833C= (p.Thr1611=)
c.4725C= (p.Thr1575=)
n.4854C=
11g.77199715C>GCA475796570MYO7Ac.4749C>G (p.Thr1583=)
c.2590C>G
c.4602C>G (p.Thr1534=)
c.2178C>G (p.Thr726=)
c.4635C>G (p.Thr1545=)
n.2288C>G
c.4743C>G (p.Thr1581=)
c.4716C>G (p.Thr1572=)
c.4653C>G (p.Thr1551=)
c.4524C>G (p.Thr1508=)
c.4512C>G (p.Thr1504=)
c.4485C>G (p.Thr1495=)
n.5069C>G
n.5071C>G
c.4839C>G (p.Thr1613=)
c.4833C>G (p.Thr1611=)
c.4725C>G (p.Thr1575=)
n.4854C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77199715C>TCA224849351MYO7Ac.4749C>T (p.Thr1583=)
c.2590C>T
c.4602C>T (p.Thr1534=)
c.2178C>T (p.Thr726=)
c.4635C>T (p.Thr1545=)
n.2288C>T
c.4743C>T (p.Thr1581=)
c.4716C>T (p.Thr1572=)
c.4653C>T (p.Thr1551=)
c.4524C>T (p.Thr1508=)
c.4512C>T (p.Thr1504=)
c.4485C>T (p.Thr1495=)
n.5069C>T
n.5071C>T
c.4839C>T (p.Thr1613=)
c.4833C>T (p.Thr1611=)
c.4725C>T (p.Thr1575=)
n.4854C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77199716T>ACA381950853MYO7Ac.4750T>A (p.Ser1584Thr)
c.2591T>A
c.4603T>A (p.Ser1535Thr)
c.2179T>A (p.Ser727Thr)
c.4636T>A (p.Ser1546Thr)
n.2289T>A
c.4744T>A (p.Ser1582Thr)
c.4717T>A (p.Ser1573Thr)
c.4654T>A (p.Ser1552Thr)
c.4525T>A (p.Ser1509Thr)
c.4513T>A (p.Ser1505Thr)
c.4486T>A (p.Ser1496Thr)
n.5070T>A
n.5072T>A
c.4840T>A (p.Ser1614Thr)
c.4834T>A (p.Ser1612Thr)
c.4726T>A (p.Ser1576Thr)
n.4855T>A
11g.77199716T>CCA381950854MYO7Ac.4750T>C (p.Ser1584Pro)
c.2591T>C
c.4603T>C (p.Ser1535Pro)
c.2179T>C (p.Ser727Pro)
c.4636T>C (p.Ser1546Pro)
n.2289T>C
c.4744T>C (p.Ser1582Pro)
c.4717T>C (p.Ser1573Pro)
c.4654T>C (p.Ser1552Pro)
c.4525T>C (p.Ser1509Pro)
c.4513T>C (p.Ser1505Pro)
c.4486T>C (p.Ser1496Pro)
n.5070T>C
n.5072T>C
c.4840T>C (p.Ser1614Pro)
c.4834T>C (p.Ser1612Pro)
c.4726T>C (p.Ser1576Pro)
n.4855T>C
11g.77199716T>GCA381950855MYO7Ac.4750T>G (p.Ser1584Ala)
c.2591T>G
c.4603T>G (p.Ser1535Ala)
c.2179T>G (p.Ser727Ala)
c.4636T>G (p.Ser1546Ala)
n.2289T>G
c.4744T>G (p.Ser1582Ala)
c.4717T>G (p.Ser1573Ala)
c.4654T>G (p.Ser1552Ala)
c.4525T>G (p.Ser1509Ala)
c.4513T>G (p.Ser1505Ala)
c.4486T>G (p.Ser1496Ala)
n.5070T>G
n.5072T>G
c.4840T>G (p.Ser1614Ala)
c.4834T>G (p.Ser1612Ala)
c.4726T>G (p.Ser1576Ala)
n.4855T>G
11g.77199717C>ACA381950858MYO7Ac.4751C>A (p.Ser1584Tyr)
c.2592C>A
c.4604C>A (p.Ser1535Tyr)
c.2180C>A (p.Ser727Tyr)
c.4637C>A (p.Ser1546Tyr)
n.2290C>A
c.4745C>A (p.Ser1582Tyr)
c.4718C>A (p.Ser1573Tyr)
c.4655C>A (p.Ser1552Tyr)
c.4526C>A (p.Ser1509Tyr)
c.4514C>A (p.Ser1505Tyr)
c.4487C>A (p.Ser1496Tyr)
n.5071C>A
n.5073C>A
c.4841C>A (p.Ser1614Tyr)
c.4835C>A (p.Ser1612Tyr)
c.4727C>A (p.Ser1576Tyr)
n.4856C>A
11g.77199717C=CA1984122775MYO7Ac.4751C= (p.Ser1584=)
c.2592C=
c.4604C= (p.Ser1535=)
c.2180C= (p.Ser727=)
c.4637C= (p.Ser1546=)
n.2290C=
c.4745C= (p.Ser1582=)
c.4718C= (p.Ser1573=)
c.4655C= (p.Ser1552=)
c.4526C= (p.Ser1509=)
c.4514C= (p.Ser1505=)
c.4487C= (p.Ser1496=)
n.5071C=
n.5073C=
c.4841C= (p.Ser1614=)
c.4835C= (p.Ser1612=)
c.4727C= (p.Ser1576=)
n.4856C=
11g.77199717C>GCA381950857MYO7Ac.4751C>G (p.Ser1584Cys)
c.2592C>G
c.4604C>G (p.Ser1535Cys)
c.2180C>G (p.Ser727Cys)
c.4637C>G (p.Ser1546Cys)
n.2290C>G
c.4745C>G (p.Ser1582Cys)
c.4718C>G (p.Ser1573Cys)
c.4655C>G (p.Ser1552Cys)
c.4526C>G (p.Ser1509Cys)
c.4514C>G (p.Ser1505Cys)
c.4487C>G (p.Ser1496Cys)
n.5071C>G
n.5073C>G
c.4841C>G (p.Ser1614Cys)
c.4835C>G (p.Ser1612Cys)
c.4727C>G (p.Ser1576Cys)
n.4856C>G
 ClinVar dbSNP gnomAD v4
11g.77199717C>TCA381950856MYO7Ac.4751C>T (p.Ser1584Phe)
c.2592C>T
c.4604C>T (p.Ser1535Phe)
c.2180C>T (p.Ser727Phe)
c.4637C>T (p.Ser1546Phe)
n.2290C>T
c.4745C>T (p.Ser1582Phe)
c.4718C>T (p.Ser1573Phe)
c.4655C>T (p.Ser1552Phe)
c.4526C>T (p.Ser1509Phe)
c.4514C>T (p.Ser1505Phe)
c.4487C>T (p.Ser1496Phe)
n.5071C>T
n.5073C>T
c.4841C>T (p.Ser1614Phe)
c.4835C>T (p.Ser1612Phe)
c.4727C>T (p.Ser1576Phe)
n.4856C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77199718C>ACA475796571MYO7Ac.4752C>A (p.Ser1584=)
c.2593C>A
c.4605C>A (p.Ser1535=)
c.2181C>A (p.Ser727=)
c.4638C>A (p.Ser1546=)
n.2291C>A
c.4746C>A (p.Ser1582=)
c.4719C>A (p.Ser1573=)
c.4656C>A (p.Ser1552=)
c.4527C>A (p.Ser1509=)
c.4515C>A (p.Ser1505=)
c.4488C>A (p.Ser1496=)
n.5072C>A
n.5074C>A
c.4842C>A (p.Ser1614=)
c.4836C>A (p.Ser1612=)
c.4728C>A (p.Ser1576=)
n.4857C>A
11g.77199718C=CA1984122781MYO7Ac.4752C= (p.Ser1584=)
c.2593C=
c.4605C= (p.Ser1535=)
c.2181C= (p.Ser727=)
c.4638C= (p.Ser1546=)
n.2291C=
c.4746C= (p.Ser1582=)
c.4719C= (p.Ser1573=)
c.4656C= (p.Ser1552=)
c.4527C= (p.Ser1509=)
c.4515C= (p.Ser1505=)
c.4488C= (p.Ser1496=)
n.5072C=
n.5074C=
c.4842C= (p.Ser1614=)
c.4836C= (p.Ser1612=)
c.4728C= (p.Ser1576=)
n.4857C=
11g.77199718C>GCA475796572MYO7Ac.4752C>G (p.Ser1584=)
c.2593C>G
c.4605C>G (p.Ser1535=)
c.2181C>G (p.Ser727=)
c.4638C>G (p.Ser1546=)
n.2291C>G
c.4746C>G (p.Ser1582=)
c.4719C>G (p.Ser1573=)
c.4656C>G (p.Ser1552=)
c.4527C>G (p.Ser1509=)
c.4515C>G (p.Ser1505=)
c.4488C>G (p.Ser1496=)
n.5072C>G
n.5074C>G
c.4842C>G (p.Ser1614=)
c.4836C>G (p.Ser1612=)
c.4728C>G (p.Ser1576=)
n.4857C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77199718C>TCA475796573MYO7Ac.4752C>T (p.Ser1584=)
c.2593C>T
c.4605C>T (p.Ser1535=)
c.2181C>T (p.Ser727=)
c.4638C>T (p.Ser1546=)
n.2291C>T
c.4746C>T (p.Ser1582=)
c.4719C>T (p.Ser1573=)
c.4656C>T (p.Ser1552=)
c.4527C>T (p.Ser1509=)
c.4515C>T (p.Ser1505=)
c.4488C>T (p.Ser1496=)
n.5072C>T
n.5074C>T
c.4842C>T (p.Ser1614=)
c.4836C>T (p.Ser1612=)
c.4728C>T (p.Ser1576=)
n.4857C>T
11g.77199719A>CCA381950859MYO7Ac.4753A>C (p.Ser1585Arg)
c.2594A>C
c.4606A>C (p.Ser1536Arg)
c.2182A>C (p.Ser728Arg)
c.4639A>C (p.Ser1547Arg)
n.2292A>C
c.4747A>C (p.Ser1583Arg)
c.4720A>C (p.Ser1574Arg)
c.4657A>C (p.Ser1553Arg)
c.4528A>C (p.Ser1510Arg)
c.4516A>C (p.Ser1506Arg)
c.4489A>C (p.Ser1497Arg)
n.5073A>C
n.5075A>C
c.4843A>C (p.Ser1615Arg)
c.4837A>C (p.Ser1613Arg)
c.4729A>C (p.Ser1577Arg)
n.4858A>C
11g.77199719A>GCA381950860MYO7Ac.4753A>G (p.Ser1585Gly)
c.2594A>G
c.4606A>G (p.Ser1536Gly)
c.2182A>G (p.Ser728Gly)
c.4639A>G (p.Ser1547Gly)
n.2292A>G
c.4747A>G (p.Ser1583Gly)
c.4720A>G (p.Ser1574Gly)
c.4657A>G (p.Ser1553Gly)
c.4528A>G (p.Ser1510Gly)
c.4516A>G (p.Ser1506Gly)
c.4489A>G (p.Ser1497Gly)
n.5073A>G
n.5075A>G
c.4843A>G (p.Ser1615Gly)
c.4837A>G (p.Ser1613Gly)
c.4729A>G (p.Ser1577Gly)
n.4858A>G
 gnomAD v4
11g.77199719A>TCA381950861MYO7Ac.4753A>T (p.Ser1585Cys)
c.2594A>T
c.4606A>T (p.Ser1536Cys)
c.2182A>T (p.Ser728Cys)
c.4639A>T (p.Ser1547Cys)
n.2292A>T
c.4747A>T (p.Ser1583Cys)
c.4720A>T (p.Ser1574Cys)
c.4657A>T (p.Ser1553Cys)
c.4528A>T (p.Ser1510Cys)
c.4516A>T (p.Ser1506Cys)
c.4489A>T (p.Ser1497Cys)
n.5073A>T
n.5075A>T
c.4843A>T (p.Ser1615Cys)
c.4837A>T (p.Ser1613Cys)
c.4729A>T (p.Ser1577Cys)
n.4858A>T
11g.77199720G>ACA381950862MYO7Ac.4754G>A (p.Ser1585Asn)
c.2595G>A
c.4607G>A (p.Ser1536Asn)
c.2183G>A (p.Ser728Asn)
c.4640G>A (p.Ser1547Asn)
n.2293G>A
c.4748G>A (p.Ser1583Asn)
c.4721G>A (p.Ser1574Asn)
c.4658G>A (p.Ser1553Asn)
c.4529G>A (p.Ser1510Asn)
c.4517G>A (p.Ser1506Asn)
c.4490G>A (p.Ser1497Asn)
n.5074G>A
n.5076G>A
c.4844G>A (p.Ser1615Asn)
c.4838G>A (p.Ser1613Asn)
c.4730G>A (p.Ser1577Asn)
n.4859G>A
11g.77199720G>CCA381950863MYO7Ac.4754G>C (p.Ser1585Thr)
c.2595G>C
c.4607G>C (p.Ser1536Thr)
c.2183G>C (p.Ser728Thr)
c.4640G>C (p.Ser1547Thr)
n.2293G>C
c.4748G>C (p.Ser1583Thr)
c.4721G>C (p.Ser1574Thr)
c.4658G>C (p.Ser1553Thr)
c.4529G>C (p.Ser1510Thr)
c.4517G>C (p.Ser1506Thr)
c.4490G>C (p.Ser1497Thr)
n.5074G>C
n.5076G>C
c.4844G>C (p.Ser1615Thr)
c.4838G>C (p.Ser1613Thr)
c.4730G>C (p.Ser1577Thr)
n.4859G>C
11g.77199720G>TCA381950864MYO7Ac.4754G>T (p.Ser1585Ile)
c.2595G>T
c.4607G>T (p.Ser1536Ile)
c.2183G>T (p.Ser728Ile)
c.4640G>T (p.Ser1547Ile)
n.2293G>T
c.4748G>T (p.Ser1583Ile)
c.4721G>T (p.Ser1574Ile)
c.4658G>T (p.Ser1553Ile)
c.4529G>T (p.Ser1510Ile)
c.4517G>T (p.Ser1506Ile)
c.4490G>T (p.Ser1497Ile)
n.5074G>T
n.5076G>T
c.4844G>T (p.Ser1615Ile)
c.4838G>T (p.Ser1613Ile)
c.4730G>T (p.Ser1577Ile)
n.4859G>T
11g.77199721C>ACA381950865MYO7Ac.4755C>A (p.Ser1585Arg)
c.2596C>A
c.4608C>A (p.Ser1536Arg)
c.2184C>A (p.Ser728Arg)
c.4641C>A (p.Ser1547Arg)
n.2294C>A
c.4749C>A (p.Ser1583Arg)
c.4722C>A (p.Ser1574Arg)
c.4659C>A (p.Ser1553Arg)
c.4530C>A (p.Ser1510Arg)
c.4518C>A (p.Ser1506Arg)
c.4491C>A (p.Ser1497Arg)
n.5075C>A
n.5077C>A
c.4845C>A (p.Ser1615Arg)
c.4839C>A (p.Ser1613Arg)
c.4731C>A (p.Ser1577Arg)
n.4860C>A
 dbSNP
11g.77199721C=CA1984122788MYO7Ac.4755C= (p.Ser1585=)
c.2596C=
c.4608C= (p.Ser1536=)
c.2184C= (p.Ser728=)
c.4641C= (p.Ser1547=)
n.2294C=
c.4749C= (p.Ser1583=)
c.4722C= (p.Ser1574=)
c.4659C= (p.Ser1553=)
c.4530C= (p.Ser1510=)
c.4518C= (p.Ser1506=)
c.4491C= (p.Ser1497=)
n.5075C=
n.5077C=
c.4845C= (p.Ser1615=)
c.4839C= (p.Ser1613=)
c.4731C= (p.Ser1577=)
n.4860C=
11g.77199721C>GCA381950866MYO7Ac.4755C>G (p.Ser1585Arg)
c.2596C>G
c.4608C>G (p.Ser1536Arg)
c.2184C>G (p.Ser728Arg)
c.4641C>G (p.Ser1547Arg)
n.2294C>G
c.4749C>G (p.Ser1583Arg)
c.4722C>G (p.Ser1574Arg)
c.4659C>G (p.Ser1553Arg)
c.4530C>G (p.Ser1510Arg)
c.4518C>G (p.Ser1506Arg)
c.4491C>G (p.Ser1497Arg)
n.5075C>G
n.5077C>G
c.4845C>G (p.Ser1615Arg)
c.4839C>G (p.Ser1613Arg)
c.4731C>G (p.Ser1577Arg)
n.4860C>G
11g.77199721C>TCA132351MYO7Ac.4755C>T (p.Ser1585=)
c.2596C>T
c.4608C>T (p.Ser1536=)
c.2184C>T (p.Ser728=)
c.4641C>T (p.Ser1547=)
n.2294C>T
c.4749C>T (p.Ser1583=)
c.4722C>T (p.Ser1574=)
c.4659C>T (p.Ser1553=)
c.4530C>T (p.Ser1510=)
c.4518C>T (p.Ser1506=)
c.4491C>T (p.Ser1497=)
n.5075C>T
n.5077C>T
c.4845C>T (p.Ser1615=)
c.4839C>T (p.Ser1613=)
c.4731C>T (p.Ser1577=)
n.4860C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199722A=CA1984122794MYO7Ac.4756A= (p.Asn1586=)
c.2597A=
c.4609A= (p.Asn1537=)
c.2185A= (p.Asn729=)
c.4642A= (p.Asn1548=)
n.2295A=
c.4750A= (p.Asn1584=)
c.4723A= (p.Asn1575=)
c.4660A= (p.Asn1554=)
c.4531A= (p.Asn1511=)
c.4519A= (p.Asn1507=)
c.4492A= (p.Asn1498=)
n.5076A=
n.5078A=
c.4846A= (p.Asn1616=)
c.4840A= (p.Asn1614=)
c.4732A= (p.Asn1578=)
n.4861A=
11g.77199722A>CCA381950867MYO7Ac.4756A>C (p.Asn1586His)
c.2597A>C
c.4609A>C (p.Asn1537His)
c.2185A>C (p.Asn729His)
c.4642A>C (p.Asn1548His)
n.2295A>C
c.4750A>C (p.Asn1584His)
c.4723A>C (p.Asn1575His)
c.4660A>C (p.Asn1554His)
c.4531A>C (p.Asn1511His)
c.4519A>C (p.Asn1507His)
c.4492A>C (p.Asn1498His)
n.5076A>C
n.5078A>C
c.4846A>C (p.Asn1616His)
c.4840A>C (p.Asn1614His)
c.4732A>C (p.Asn1578His)
n.4861A>C
11g.77199722A>GCA224849355MYO7Ac.4756A>G (p.Asn1586Asp)
c.2597A>G
c.4609A>G (p.Asn1537Asp)
c.2185A>G (p.Asn729Asp)
c.4642A>G (p.Asn1548Asp)
n.2295A>G
c.4750A>G (p.Asn1584Asp)
c.4723A>G (p.Asn1575Asp)
c.4660A>G (p.Asn1554Asp)
c.4531A>G (p.Asn1511Asp)
c.4519A>G (p.Asn1507Asp)
c.4492A>G (p.Asn1498Asp)
n.5076A>G
n.5078A>G
c.4846A>G (p.Asn1616Asp)
c.4840A>G (p.Asn1614Asp)
c.4732A>G (p.Asn1578Asp)
n.4861A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77199722A>TCA381950868MYO7Ac.4756A>T (p.Asn1586Tyr)
c.2597A>T
c.4609A>T (p.Asn1537Tyr)
c.2185A>T (p.Asn729Tyr)
c.4642A>T (p.Asn1548Tyr)
n.2295A>T
c.4750A>T (p.Asn1584Tyr)
c.4723A>T (p.Asn1575Tyr)
c.4660A>T (p.Asn1554Tyr)
c.4531A>T (p.Asn1511Tyr)
c.4519A>T (p.Asn1507Tyr)
c.4492A>T (p.Asn1498Tyr)
n.5076A>T
n.5078A>T
c.4846A>T (p.Asn1616Tyr)
c.4840A>T (p.Asn1614Tyr)
c.4732A>T (p.Asn1578Tyr)
n.4861A>T
11g.77199723A=CA1984122800MYO7Ac.4757A= (p.Asn1586=)
c.2598A=
c.4610A= (p.Asn1537=)
c.2186A= (p.Asn729=)
c.4643A= (p.Asn1548=)
n.2296A=
c.4751A= (p.Asn1584=)
c.4724A= (p.Asn1575=)
c.4661A= (p.Asn1554=)
c.4532A= (p.Asn1511=)
c.4520A= (p.Asn1507=)
c.4493A= (p.Asn1498=)
n.5077A=
n.5079A=
c.4847A= (p.Asn1616=)
c.4841A= (p.Asn1614=)
c.4733A= (p.Asn1578=)
n.4862A=
11g.77199723A>CCA381950869MYO7Ac.4757A>C (p.Asn1586Thr)
c.2598A>C
c.4610A>C (p.Asn1537Thr)
c.2186A>C (p.Asn729Thr)
c.4643A>C (p.Asn1548Thr)
n.2296A>C
c.4751A>C (p.Asn1584Thr)
c.4724A>C (p.Asn1575Thr)
c.4661A>C (p.Asn1554Thr)
c.4532A>C (p.Asn1511Thr)
c.4520A>C (p.Asn1507Thr)
c.4493A>C (p.Asn1498Thr)
n.5077A>C
n.5079A>C
c.4847A>C (p.Asn1616Thr)
c.4841A>C (p.Asn1614Thr)
c.4733A>C (p.Asn1578Thr)
n.4862A>C
11g.77199723A>GCA244758MYO7Ac.4757A>G (p.Asn1586Ser)
c.2598A>G
c.4610A>G (p.Asn1537Ser)
c.2186A>G (p.Asn729Ser)
c.4643A>G (p.Asn1548Ser)
n.2296A>G
c.4751A>G (p.Asn1584Ser)
c.4724A>G (p.Asn1575Ser)
c.4661A>G (p.Asn1554Ser)
c.4532A>G (p.Asn1511Ser)
c.4520A>G (p.Asn1507Ser)
c.4493A>G (p.Asn1498Ser)
n.5077A>G
n.5079A>G
c.4847A>G (p.Asn1616Ser)
c.4841A>G (p.Asn1614Ser)
c.4733A>G (p.Asn1578Ser)
n.4862A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199723A>TCA381950870MYO7Ac.4757A>T (p.Asn1586Ile)
c.2598A>T
c.4610A>T (p.Asn1537Ile)
c.2186A>T (p.Asn729Ile)
c.4643A>T (p.Asn1548Ile)
n.2296A>T
c.4751A>T (p.Asn1584Ile)
c.4724A>T (p.Asn1575Ile)
c.4661A>T (p.Asn1554Ile)
c.4532A>T (p.Asn1511Ile)
c.4520A>T (p.Asn1507Ile)
c.4493A>T (p.Asn1498Ile)
n.5077A>T
n.5079A>T
c.4847A>T (p.Asn1616Ile)
c.4841A>T (p.Asn1614Ile)
c.4733A>T (p.Asn1578Ile)
n.4862A>T
11g.77199724T>ACA381950871MYO7Ac.4758T>A (p.Asn1586Lys)
c.2599T>A
c.4611T>A (p.Asn1537Lys)
c.2187T>A (p.Asn729Lys)
c.4644T>A (p.Asn1548Lys)
n.2297T>A
c.4752T>A (p.Asn1584Lys)
c.4725T>A (p.Asn1575Lys)
c.4662T>A (p.Asn1554Lys)
c.4533T>A (p.Asn1511Lys)
c.4521T>A (p.Asn1507Lys)
c.4494T>A (p.Asn1498Lys)
n.5078T>A
n.5080T>A
c.4848T>A (p.Asn1616Lys)
c.4842T>A (p.Asn1614Lys)
c.4734T>A (p.Asn1578Lys)
n.4863T>A
11g.77199724T>CCA475796576MYO7Ac.4758T>C (p.Asn1586=)
c.2599T>C
c.4611T>C (p.Asn1537=)
c.2187T>C (p.Asn729=)
c.4644T>C (p.Asn1548=)
n.2297T>C
c.4752T>C (p.Asn1584=)
c.4725T>C (p.Asn1575=)
c.4662T>C (p.Asn1554=)
c.4533T>C (p.Asn1511=)
c.4521T>C (p.Asn1507=)
c.4494T>C (p.Asn1498=)
n.5078T>C
n.5080T>C
c.4848T>C (p.Asn1616=)
c.4842T>C (p.Asn1614=)
c.4734T>C (p.Asn1578=)
n.4863T>C
 dbSNP gnomAD v4
11g.77199724T>GCA381950872MYO7Ac.4758T>G (p.Asn1586Lys)
c.2599T>G
c.4611T>G (p.Asn1537Lys)
c.2187T>G (p.Asn729Lys)
c.4644T>G (p.Asn1548Lys)
n.2297T>G
c.4752T>G (p.Asn1584Lys)
c.4725T>G (p.Asn1575Lys)
c.4662T>G (p.Asn1554Lys)
c.4533T>G (p.Asn1511Lys)
c.4521T>G (p.Asn1507Lys)
c.4494T>G (p.Asn1498Lys)
n.5078T>G
n.5080T>G
c.4848T>G (p.Asn1616Lys)
c.4842T>G (p.Asn1614Lys)
c.4734T>G (p.Asn1578Lys)
n.4863T>G
11g.77199724T=CA1984122804MYO7Ac.4758T= (p.Asn1586=)
c.2599T=
c.4611T= (p.Asn1537=)
c.2187T= (p.Asn729=)
c.4644T= (p.Asn1548=)
n.2297T=
c.4752T= (p.Asn1584=)
c.4725T= (p.Asn1575=)
c.4662T= (p.Asn1554=)
c.4533T= (p.Asn1511=)
c.4521T= (p.Asn1507=)
c.4494T= (p.Asn1498=)
n.5078T=
n.5080T=
c.4848T= (p.Asn1616=)
c.4842T= (p.Asn1614=)
c.4734T= (p.Asn1578=)
n.4863T=
11g.77199725G>ACA381950873MYO7Ac.4759G>A (p.Ala1587Thr)
c.2600G>A
c.4612G>A (p.Ala1538Thr)
c.2188G>A (p.Ala730Thr)
c.4645G>A (p.Ala1549Thr)
n.2298G>A
c.4753G>A (p.Ala1585Thr)
c.4726G>A (p.Ala1576Thr)
c.4663G>A (p.Ala1555Thr)
c.4534G>A (p.Ala1512Thr)
c.4522G>A (p.Ala1508Thr)
c.4495G>A (p.Ala1499Thr)
n.5079G>A
n.5081G>A
c.4849G>A (p.Ala1617Thr)
c.4843G>A (p.Ala1615Thr)
c.4735G>A (p.Ala1579Thr)
n.4864G>A
11g.77199725G>CCA381950874MYO7Ac.4759G>C (p.Ala1587Pro)
c.2600G>C
c.4612G>C (p.Ala1538Pro)
c.2188G>C (p.Ala730Pro)
c.4645G>C (p.Ala1549Pro)
n.2298G>C
c.4753G>C (p.Ala1585Pro)
c.4726G>C (p.Ala1576Pro)
c.4663G>C (p.Ala1555Pro)
c.4534G>C (p.Ala1512Pro)
c.4522G>C (p.Ala1508Pro)
c.4495G>C (p.Ala1499Pro)
n.5079G>C
n.5081G>C
c.4849G>C (p.Ala1617Pro)
c.4843G>C (p.Ala1615Pro)
c.4735G>C (p.Ala1579Pro)
n.4864G>C
11g.77199725G=CA1984122811MYO7Ac.4759G= (p.Ala1587=)
c.2600G=
c.4612G= (p.Ala1538=)
c.2188G= (p.Ala730=)
c.4645G= (p.Ala1549=)
n.2298G=
c.4753G= (p.Ala1585=)
c.4726G= (p.Ala1576=)
c.4663G= (p.Ala1555=)
c.4534G= (p.Ala1512=)
c.4522G= (p.Ala1508=)
c.4495G= (p.Ala1499=)
n.5079G=
n.5081G=
c.4849G= (p.Ala1617=)
c.4843G= (p.Ala1615=)
c.4735G= (p.Ala1579=)
n.4864G=
11g.77199725G>TCA381950875MYO7Ac.4759G>T (p.Ala1587Ser)
c.2600G>T
c.4612G>T (p.Ala1538Ser)
c.2188G>T (p.Ala730Ser)
c.4645G>T (p.Ala1549Ser)
n.2298G>T
c.4753G>T (p.Ala1585Ser)
c.4726G>T (p.Ala1576Ser)
c.4663G>T (p.Ala1555Ser)
c.4534G>T (p.Ala1512Ser)
c.4522G>T (p.Ala1508Ser)
c.4495G>T (p.Ala1499Ser)
n.5079G>T
n.5081G>T
c.4849G>T (p.Ala1617Ser)
c.4843G>T (p.Ala1615Ser)
c.4735G>T (p.Ala1579Ser)
n.4864G>T
 ClinVar dbSNP
11g.77199726C>ACA381950876MYO7Ac.4760C>A (p.Ala1587Asp)
c.2601C>A
c.4613C>A (p.Ala1538Asp)
c.2189C>A (p.Ala730Asp)
c.4646C>A (p.Ala1549Asp)
n.2299C>A
c.4754C>A (p.Ala1585Asp)
c.4727C>A (p.Ala1576Asp)
c.4664C>A (p.Ala1555Asp)
c.4535C>A (p.Ala1512Asp)
c.4523C>A (p.Ala1508Asp)
c.4496C>A (p.Ala1499Asp)
n.5080C>A
n.5082C>A
c.4850C>A (p.Ala1617Asp)
c.4844C>A (p.Ala1615Asp)
c.4736C>A (p.Ala1579Asp)
n.4865C>A
11g.77199726C>GCA381950878MYO7Ac.4760C>G (p.Ala1587Gly)
c.2601C>G
c.4613C>G (p.Ala1538Gly)
c.2189C>G (p.Ala730Gly)
c.4646C>G (p.Ala1549Gly)
n.2299C>G
c.4754C>G (p.Ala1585Gly)
c.4727C>G (p.Ala1576Gly)
c.4664C>G (p.Ala1555Gly)
c.4535C>G (p.Ala1512Gly)
c.4523C>G (p.Ala1508Gly)
c.4496C>G (p.Ala1499Gly)
n.5080C>G
n.5082C>G
c.4850C>G (p.Ala1617Gly)
c.4844C>G (p.Ala1615Gly)
c.4736C>G (p.Ala1579Gly)
n.4865C>G
11g.77199726C>TCA381950877MYO7Ac.4760C>T (p.Ala1587Val)
c.2601C>T
c.4613C>T (p.Ala1538Val)
c.2189C>T (p.Ala730Val)
c.4646C>T (p.Ala1549Val)
n.2299C>T
c.4754C>T (p.Ala1585Val)
c.4727C>T (p.Ala1576Val)
c.4664C>T (p.Ala1555Val)
c.4535C>T (p.Ala1512Val)
c.4523C>T (p.Ala1508Val)
c.4496C>T (p.Ala1499Val)
n.5080C>T
n.5082C>T
c.4850C>T (p.Ala1617Val)
c.4844C>T (p.Ala1615Val)
c.4736C>T (p.Ala1579Val)
n.4865C>T
 gnomAD v4
11g.77199727T>ACA475796577MYO7Ac.4761T>A (p.Ala1587=)
c.2602T>A
c.4614T>A (p.Ala1538=)
c.2190T>A (p.Ala730=)
c.4647T>A (p.Ala1549=)
n.2300T>A
c.4755T>A (p.Ala1585=)
c.4728T>A (p.Ala1576=)
c.4665T>A (p.Ala1555=)
c.4536T>A (p.Ala1512=)
c.4524T>A (p.Ala1508=)
c.4497T>A (p.Ala1499=)
n.5081T>A
n.5083T>A
c.4851T>A (p.Ala1617=)
c.4845T>A (p.Ala1615=)
c.4737T>A (p.Ala1579=)
n.4866T>A
11g.77199727T>CCA475796578MYO7Ac.4761T>C (p.Ala1587=)
c.2602T>C
c.4614T>C (p.Ala1538=)
c.2190T>C (p.Ala730=)
c.4647T>C (p.Ala1549=)
n.2300T>C
c.4755T>C (p.Ala1585=)
c.4728T>C (p.Ala1576=)
c.4665T>C (p.Ala1555=)
c.4536T>C (p.Ala1512=)
c.4524T>C (p.Ala1508=)
c.4497T>C (p.Ala1499=)
n.5081T>C
n.5083T>C
c.4851T>C (p.Ala1617=)
c.4845T>C (p.Ala1615=)
c.4737T>C (p.Ala1579=)
n.4866T>C
11g.77199727T>GCA475796579MYO7Ac.4761T>G (p.Ala1587=)
c.2602T>G
c.4614T>G (p.Ala1538=)
c.2190T>G (p.Ala730=)
c.4647T>G (p.Ala1549=)
n.2300T>G
c.4755T>G (p.Ala1585=)
c.4728T>G (p.Ala1576=)
c.4665T>G (p.Ala1555=)
c.4536T>G (p.Ala1512=)
c.4524T>G (p.Ala1508=)
c.4497T>G (p.Ala1499=)
n.5081T>G
n.5083T>G
c.4851T>G (p.Ala1617=)
c.4845T>G (p.Ala1615=)
c.4737T>G (p.Ala1579=)
n.4866T>G
11g.77199728G>ACA381950879MYO7Ac.4762G>A (p.Glu1588Lys)
c.2603G>A
c.4615G>A (p.Glu1539Lys)
c.2191G>A (p.Glu731Lys)
c.4648G>A (p.Glu1550Lys)
n.2301G>A
c.4756G>A (p.Glu1586Lys)
c.4729G>A (p.Glu1577Lys)
c.4666G>A (p.Glu1556Lys)
c.4537G>A (p.Glu1513Lys)
c.4525G>A (p.Glu1509Lys)
c.4498G>A (p.Glu1500Lys)
n.5082G>A
n.5084G>A
c.4852G>A (p.Glu1618Lys)
c.4846G>A (p.Glu1616Lys)
c.4738G>A (p.Glu1580Lys)
n.4867G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77199728G>CCA381950881MYO7Ac.4762G>C (p.Glu1588Gln)
c.2603G>C
c.4615G>C (p.Glu1539Gln)
c.2191G>C (p.Glu731Gln)
c.4648G>C (p.Glu1550Gln)
n.2301G>C
c.4756G>C (p.Glu1586Gln)
c.4729G>C (p.Glu1577Gln)
c.4666G>C (p.Glu1556Gln)
c.4537G>C (p.Glu1513Gln)
c.4525G>C (p.Glu1509Gln)
c.4498G>C (p.Glu1500Gln)
n.5082G>C
n.5084G>C
c.4852G>C (p.Glu1618Gln)
c.4846G>C (p.Glu1616Gln)
c.4738G>C (p.Glu1580Gln)
n.4867G>C
11g.77199728G=CA1984122815MYO7Ac.4762G= (p.Glu1588=)
c.2603G=
c.4615G= (p.Glu1539=)
c.2191G= (p.Glu731=)
c.4648G= (p.Glu1550=)
n.2301G=
c.4756G= (p.Glu1586=)
c.4729G= (p.Glu1577=)
c.4666G= (p.Glu1556=)
c.4537G= (p.Glu1513=)
c.4525G= (p.Glu1509=)
c.4498G= (p.Glu1500=)
n.5082G=
n.5084G=
c.4852G= (p.Glu1618=)
c.4846G= (p.Glu1616=)
c.4738G= (p.Glu1580=)
n.4867G=
11g.77199728G>TCA381950880MYO7Ac.4762G>T (p.Glu1588Ter)
c.2603G>T
c.4615G>T (p.Glu1539Ter)
c.2191G>T (p.Glu731Ter)
c.4648G>T (p.Glu1550Ter)
n.2301G>T
c.4756G>T (p.Glu1586Ter)
c.4729G>T (p.Glu1577Ter)
c.4666G>T (p.Glu1556Ter)
c.4537G>T (p.Glu1513Ter)
c.4525G>T (p.Glu1509Ter)
c.4498G>T (p.Glu1500Ter)
n.5082G>T
n.5084G>T
c.4852G>T (p.Glu1618Ter)
c.4846G>T (p.Glu1616Ter)
c.4738G>T (p.Glu1580Ter)
n.4867G>T
 ClinVar dbSNP
11g.77199729A>CCA381950882MYO7Ac.4763A>C (p.Glu1588Ala)
c.2604A>C
c.4616A>C (p.Glu1539Ala)
c.2192A>C (p.Glu731Ala)
c.4649A>C (p.Glu1550Ala)
n.2302A>C
c.4757A>C (p.Glu1586Ala)
c.4730A>C (p.Glu1577Ala)
c.4667A>C (p.Glu1556Ala)
c.4538A>C (p.Glu1513Ala)
c.4526A>C (p.Glu1509Ala)
c.4499A>C (p.Glu1500Ala)
n.5083A>C
n.5085A>C
c.4853A>C (p.Glu1618Ala)
c.4847A>C (p.Glu1616Ala)
c.4739A>C (p.Glu1580Ala)
n.4868A>C
11g.77199729A>GCA381950883MYO7Ac.4763A>G (p.Glu1588Gly)
c.2604A>G
c.4616A>G (p.Glu1539Gly)
c.2192A>G (p.Glu731Gly)
c.4649A>G (p.Glu1550Gly)
n.2302A>G
c.4757A>G (p.Glu1586Gly)
c.4730A>G (p.Glu1577Gly)
c.4667A>G (p.Glu1556Gly)
c.4538A>G (p.Glu1513Gly)
c.4526A>G (p.Glu1509Gly)
c.4499A>G (p.Glu1500Gly)
n.5083A>G
n.5085A>G
c.4853A>G (p.Glu1618Gly)
c.4847A>G (p.Glu1616Gly)
c.4739A>G (p.Glu1580Gly)
n.4868A>G
11g.77199729A>TCA381950884MYO7Ac.4763A>T (p.Glu1588Val)
c.2604A>T
c.4616A>T (p.Glu1539Val)
c.2192A>T (p.Glu731Val)
c.4649A>T (p.Glu1550Val)
n.2302A>T
c.4757A>T (p.Glu1586Val)
c.4730A>T (p.Glu1577Val)
c.4667A>T (p.Glu1556Val)
c.4538A>T (p.Glu1513Val)
c.4526A>T (p.Glu1509Val)
c.4499A>T (p.Glu1500Val)
n.5083A>T
n.5085A>T
c.4853A>T (p.Glu1618Val)
c.4847A>T (p.Glu1616Val)
c.4739A>T (p.Glu1580Val)
n.4868A>T
11g.77199730G>ACA475796580MYO7Ac.4764G>A (p.Glu1588=)
c.2605G>A
c.4617G>A (p.Glu1539=)
c.2193G>A (p.Glu731=)
c.4650G>A (p.Glu1550=)
n.2303G>A
c.4758G>A (p.Glu1586=)
c.4731G>A (p.Glu1577=)
c.4668G>A (p.Glu1556=)
c.4539G>A (p.Glu1513=)
c.4527G>A (p.Glu1509=)
c.4500G>A (p.Glu1500=)
n.5084G>A
n.5086G>A
c.4854G>A (p.Glu1618=)
c.4848G>A (p.Glu1616=)
c.4740G>A (p.Glu1580=)
n.4869G>A
 ClinVar dbSNP gnomAD v4
11g.77199730G>CCA6198536MYO7Ac.4764G>C (p.Glu1588Asp)
c.2605G>C
c.4617G>C (p.Glu1539Asp)
c.2193G>C (p.Glu731Asp)
c.4650G>C (p.Glu1550Asp)
n.2303G>C
c.4758G>C (p.Glu1586Asp)
c.4731G>C (p.Glu1577Asp)
c.4668G>C (p.Glu1556Asp)
c.4539G>C (p.Glu1513Asp)
c.4527G>C (p.Glu1509Asp)
c.4500G>C (p.Glu1500Asp)
n.5084G>C
n.5086G>C
c.4854G>C (p.Glu1618Asp)
c.4848G>C (p.Glu1616Asp)
c.4740G>C (p.Glu1580Asp)
n.4869G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199730G=CA1984122820MYO7Ac.4764G= (p.Glu1588=)
c.2605G=
c.4617G= (p.Glu1539=)
c.2193G= (p.Glu731=)
c.4650G= (p.Glu1550=)
n.2303G=
c.4758G= (p.Glu1586=)
c.4731G= (p.Glu1577=)
c.4668G= (p.Glu1556=)
c.4539G= (p.Glu1513=)
c.4527G= (p.Glu1509=)
c.4500G= (p.Glu1500=)
n.5084G=
n.5086G=
c.4854G= (p.Glu1618=)
c.4848G= (p.Glu1616=)
c.4740G= (p.Glu1580=)
n.4869G=
11g.77199730G>TCA381950885MYO7Ac.4764G>T (p.Glu1588Asp)
c.2605G>T
c.4617G>T (p.Glu1539Asp)
c.2193G>T (p.Glu731Asp)
c.4650G>T (p.Glu1550Asp)
n.2303G>T
c.4758G>T (p.Glu1586Asp)
c.4731G>T (p.Glu1577Asp)
c.4668G>T (p.Glu1556Asp)
c.4539G>T (p.Glu1513Asp)
c.4527G>T (p.Glu1509Asp)
c.4500G>T (p.Glu1500Asp)
n.5084G>T
n.5086G>T
c.4854G>T (p.Glu1618Asp)
c.4848G>T (p.Glu1616Asp)
c.4740G>T (p.Glu1580Asp)
n.4869G>T
11g.77199731G>ACA381950886MYO7Ac.4765G>A (p.Asp1589Asn)
c.2606G>A
c.4618G>A (p.Asp1540Asn)
c.2194G>A (p.Asp732Asn)
c.4651G>A (p.Asp1551Asn)
n.2304G>A
c.4759G>A (p.Asp1587Asn)
c.4732G>A (p.Asp1578Asn)
c.4669G>A (p.Asp1557Asn)
c.4540G>A (p.Asp1514Asn)
c.4528G>A (p.Asp1510Asn)
c.4501G>A (p.Asp1501Asn)
n.5085G>A
n.5087G>A
c.4855G>A (p.Asp1619Asn)
c.4849G>A (p.Asp1617Asn)
c.4741G>A (p.Asp1581Asn)
n.4870G>A
11g.77199731G>CCA381950887MYO7Ac.4765G>C (p.Asp1589His)
c.2606G>C
c.4618G>C (p.Asp1540His)
c.2194G>C (p.Asp732His)
c.4651G>C (p.Asp1551His)
n.2304G>C
c.4759G>C (p.Asp1587His)
c.4732G>C (p.Asp1578His)
c.4669G>C (p.Asp1557His)
c.4540G>C (p.Asp1514His)
c.4528G>C (p.Asp1510His)
c.4501G>C (p.Asp1501His)
n.5085G>C
n.5087G>C
c.4855G>C (p.Asp1619His)
c.4849G>C (p.Asp1617His)
c.4741G>C (p.Asp1581His)
n.4870G>C
11g.77199731G>TCA381950888MYO7Ac.4765G>T (p.Asp1589Tyr)
c.2606G>T
c.4618G>T (p.Asp1540Tyr)
c.2194G>T (p.Asp732Tyr)
c.4651G>T (p.Asp1551Tyr)
n.2304G>T
c.4759G>T (p.Asp1587Tyr)
c.4732G>T (p.Asp1578Tyr)
c.4669G>T (p.Asp1557Tyr)
c.4540G>T (p.Asp1514Tyr)
c.4528G>T (p.Asp1510Tyr)
c.4501G>T (p.Asp1501Tyr)
n.5085G>T
n.5087G>T
c.4855G>T (p.Asp1619Tyr)
c.4849G>T (p.Asp1617Tyr)
c.4741G>T (p.Asp1581Tyr)
n.4870G>T
11g.77199732A>CCA381950889MYO7Ac.4766A>C (p.Asp1589Ala)
c.2607A>C
c.4619A>C (p.Asp1540Ala)
c.2195A>C (p.Asp732Ala)
c.4652A>C (p.Asp1551Ala)
n.2305A>C
c.4760A>C (p.Asp1587Ala)
c.4733A>C (p.Asp1578Ala)
c.4670A>C (p.Asp1557Ala)
c.4541A>C (p.Asp1514Ala)
c.4529A>C (p.Asp1510Ala)
c.4502A>C (p.Asp1501Ala)
n.5086A>C
n.5088A>C
c.4856A>C (p.Asp1619Ala)
c.4850A>C (p.Asp1617Ala)
c.4742A>C (p.Asp1581Ala)
n.4871A>C
11g.77199732A>GCA381950890MYO7Ac.4766A>G (p.Asp1589Gly)
c.2607A>G
c.4619A>G (p.Asp1540Gly)
c.2195A>G (p.Asp732Gly)
c.4652A>G (p.Asp1551Gly)
n.2305A>G
c.4760A>G (p.Asp1587Gly)
c.4733A>G (p.Asp1578Gly)
c.4670A>G (p.Asp1557Gly)
c.4541A>G (p.Asp1514Gly)
c.4529A>G (p.Asp1510Gly)
c.4502A>G (p.Asp1501Gly)
n.5086A>G
n.5088A>G
c.4856A>G (p.Asp1619Gly)
c.4850A>G (p.Asp1617Gly)
c.4742A>G (p.Asp1581Gly)
n.4871A>G
 gnomAD v4
11g.77199732A>TCA381950891MYO7Ac.4766A>T (p.Asp1589Val)
c.2607A>T
c.4619A>T (p.Asp1540Val)
c.2195A>T (p.Asp732Val)
c.4652A>T (p.Asp1551Val)
n.2305A>T
c.4760A>T (p.Asp1587Val)
c.4733A>T (p.Asp1578Val)
c.4670A>T (p.Asp1557Val)
c.4541A>T (p.Asp1514Val)
c.4529A>T (p.Asp1510Val)
c.4502A>T (p.Asp1501Val)
n.5086A>T
n.5088A>T
c.4856A>T (p.Asp1619Val)
c.4850A>T (p.Asp1617Val)
c.4742A>T (p.Asp1581Val)
n.4871A>T
11g.77199733C>ACA381950893MYO7Ac.4767C>A (p.Asp1589Glu)
c.2608C>A
c.4620C>A (p.Asp1540Glu)
c.2196C>A (p.Asp732Glu)
c.4653C>A (p.Asp1551Glu)
n.2306C>A
c.4761C>A (p.Asp1587Glu)
c.4734C>A (p.Asp1578Glu)
c.4671C>A (p.Asp1557Glu)
c.4542C>A (p.Asp1514Glu)
c.4530C>A (p.Asp1510Glu)
c.4503C>A (p.Asp1501Glu)
n.5087C>A
n.5089C>A
c.4857C>A (p.Asp1619Glu)
c.4851C>A (p.Asp1617Glu)
c.4743C>A (p.Asp1581Glu)
n.4872C>A
11g.77199733C=CA1984122824MYO7Ac.4767C= (p.Asp1589=)
c.2608C=
c.4620C= (p.Asp1540=)
c.2196C= (p.Asp732=)
c.4653C= (p.Asp1551=)
n.2306C=
c.4761C= (p.Asp1587=)
c.4734C= (p.Asp1578=)
c.4671C= (p.Asp1557=)
c.4542C= (p.Asp1514=)
c.4530C= (p.Asp1510=)
c.4503C= (p.Asp1501=)
n.5087C=
n.5089C=
c.4857C= (p.Asp1619=)
c.4851C= (p.Asp1617=)
c.4743C= (p.Asp1581=)
n.4872C=
11g.77199733C>GCA381950892MYO7Ac.4767C>G (p.Asp1589Glu)
c.2608C>G
c.4620C>G (p.Asp1540Glu)
c.2196C>G (p.Asp732Glu)
c.4653C>G (p.Asp1551Glu)
n.2306C>G
c.4761C>G (p.Asp1587Glu)
c.4734C>G (p.Asp1578Glu)
c.4671C>G (p.Asp1557Glu)
c.4542C>G (p.Asp1514Glu)
c.4530C>G (p.Asp1510Glu)
c.4503C>G (p.Asp1501Glu)
n.5087C>G
n.5089C>G
c.4857C>G (p.Asp1619Glu)
c.4851C>G (p.Asp1617Glu)
c.4743C>G (p.Asp1581Glu)
n.4872C>G
11g.77199733C>TCA6198537MYO7Ac.4767C>T (p.Asp1589=)
c.2608C>T
c.4620C>T (p.Asp1540=)
c.2196C>T (p.Asp732=)
c.4653C>T (p.Asp1551=)
n.2306C>T
c.4761C>T (p.Asp1587=)
c.4734C>T (p.Asp1578=)
c.4671C>T (p.Asp1557=)
c.4542C>T (p.Asp1514=)
c.4530C>T (p.Asp1510=)
c.4503C>T (p.Asp1501=)
n.5087C>T
n.5089C>T
c.4857C>T (p.Asp1619=)
c.4851C>T (p.Asp1617=)
c.4743C>T (p.Asp1581=)
n.4872C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199734A=CA1984122829MYO7Ac.4768A= (p.Ile1590=)
c.2609A=
c.4621A= (p.Ile1541=)
c.2197A= (p.Ile733=)
c.4654A= (p.Ile1552=)
n.2307A=
c.4762A= (p.Ile1588=)
c.4735A= (p.Ile1579=)
c.4672A= (p.Ile1558=)
c.4543A= (p.Ile1515=)
c.4531A= (p.Ile1511=)
c.4504A= (p.Ile1502=)
n.5088A=
n.5090A=
c.4858A= (p.Ile1620=)
c.4852A= (p.Ile1618=)
c.4744A= (p.Ile1582=)
n.4873A=
11g.77199734A>CCA381950894MYO7Ac.4768A>C (p.Ile1590Leu)
c.2609A>C
c.4621A>C (p.Ile1541Leu)
c.2197A>C (p.Ile733Leu)
c.4654A>C (p.Ile1552Leu)
n.2307A>C
c.4762A>C (p.Ile1588Leu)
c.4735A>C (p.Ile1579Leu)
c.4672A>C (p.Ile1558Leu)
c.4543A>C (p.Ile1515Leu)
c.4531A>C (p.Ile1511Leu)
c.4504A>C (p.Ile1502Leu)
n.5088A>C
n.5090A>C
c.4858A>C (p.Ile1620Leu)
c.4852A>C (p.Ile1618Leu)
c.4744A>C (p.Ile1582Leu)
n.4873A>C
11g.77199734A>GCA6198538MYO7Ac.4768A>G (p.Ile1590Val)
c.2609A>G
c.4621A>G (p.Ile1541Val)
c.2197A>G (p.Ile733Val)
c.4654A>G (p.Ile1552Val)
n.2307A>G
c.4762A>G (p.Ile1588Val)
c.4735A>G (p.Ile1579Val)
c.4672A>G (p.Ile1558Val)
c.4543A>G (p.Ile1515Val)
c.4531A>G (p.Ile1511Val)
c.4504A>G (p.Ile1502Val)
n.5088A>G
n.5090A>G
c.4858A>G (p.Ile1620Val)
c.4852A>G (p.Ile1618Val)
c.4744A>G (p.Ile1582Val)
n.4873A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199734A>TCA381950895MYO7Ac.4768A>T (p.Ile1590Phe)
c.2609A>T
c.4621A>T (p.Ile1541Phe)
c.2197A>T (p.Ile733Phe)
c.4654A>T (p.Ile1552Phe)
n.2307A>T
c.4762A>T (p.Ile1588Phe)
c.4735A>T (p.Ile1579Phe)
c.4672A>T (p.Ile1558Phe)
c.4543A>T (p.Ile1515Phe)
c.4531A>T (p.Ile1511Phe)
c.4504A>T (p.Ile1502Phe)
n.5088A>T
n.5090A>T
c.4858A>T (p.Ile1620Phe)
c.4852A>T (p.Ile1618Phe)
c.4744A>T (p.Ile1582Phe)
n.4873A>T
11g.77199735T>ACA381950896MYO7Ac.4769T>A (p.Ile1590Asn)
c.2610T>A
c.4622T>A (p.Ile1541Asn)
c.2198T>A (p.Ile733Asn)
c.4655T>A (p.Ile1552Asn)
n.2308T>A
c.4763T>A (p.Ile1588Asn)
c.4736T>A (p.Ile1579Asn)
c.4673T>A (p.Ile1558Asn)
c.4544T>A (p.Ile1515Asn)
c.4532T>A (p.Ile1511Asn)
c.4505T>A (p.Ile1502Asn)
n.5089T>A
n.5091T>A
c.4859T>A (p.Ile1620Asn)
c.4853T>A (p.Ile1618Asn)
c.4745T>A (p.Ile1582Asn)
n.4874T>A
11g.77199735T>CCA381950897MYO7Ac.4769T>C (p.Ile1590Thr)
c.2610T>C
c.4622T>C (p.Ile1541Thr)
c.2198T>C (p.Ile733Thr)
c.4655T>C (p.Ile1552Thr)
n.2308T>C
c.4763T>C (p.Ile1588Thr)
c.4736T>C (p.Ile1579Thr)
c.4673T>C (p.Ile1558Thr)
c.4544T>C (p.Ile1515Thr)
c.4532T>C (p.Ile1511Thr)
c.4505T>C (p.Ile1502Thr)
n.5089T>C
n.5091T>C
c.4859T>C (p.Ile1620Thr)
c.4853T>C (p.Ile1618Thr)
c.4745T>C (p.Ile1582Thr)
n.4874T>C
11g.77199735T>GCA381950898MYO7Ac.4769T>G (p.Ile1590Ser)
c.2610T>G
c.4622T>G (p.Ile1541Ser)
c.2198T>G (p.Ile733Ser)
c.4655T>G (p.Ile1552Ser)
n.2308T>G
c.4763T>G (p.Ile1588Ser)
c.4736T>G (p.Ile1579Ser)
c.4673T>G (p.Ile1558Ser)
c.4544T>G (p.Ile1515Ser)
c.4532T>G (p.Ile1511Ser)
c.4505T>G (p.Ile1502Ser)
n.5089T>G
n.5091T>G
c.4859T>G (p.Ile1620Ser)
c.4853T>G (p.Ile1618Ser)
c.4745T>G (p.Ile1582Ser)
n.4874T>G
 gnomAD v4
11g.77199736dupCA2499221337MYO7Ac.4770dup (p.Arg1591SerfsTer2)
c.2611dup
c.4623dup (p.Arg1542SerfsTer2)
c.2199dup (p.Arg734SerfsTer2)
c.4656dup (p.Arg1553SerfsTer2)
n.2309dup
c.4764dup (p.Arg1589SerfsTer2)
c.4737dup (p.Arg1580SerfsTer2)
c.4674dup (p.Arg1559SerfsTer2)
c.4545dup (p.Arg1516SerfsTer2)
c.4533dup (p.Arg1512SerfsTer2)
c.4506dup (p.Arg1503SerfsTer2)
n.5090dup
n.5092dup
c.4860dup (p.Arg1621SerfsTer2)
c.4854dup (p.Arg1619SerfsTer2)
c.4746dup (p.Arg1583SerfsTer2)
n.4875dup
 ClinVar dbSNP
11g.77199736T>ACA475796585MYO7Ac.4770T>A (p.Ile1590=)
c.2611T>A
c.4623T>A (p.Ile1541=)
c.2199T>A (p.Ile733=)
c.4656T>A (p.Ile1552=)
n.2309T>A
c.4764T>A (p.Ile1588=)
c.4737T>A (p.Ile1579=)
c.4674T>A (p.Ile1558=)
c.4545T>A (p.Ile1515=)
c.4533T>A (p.Ile1511=)
c.4506T>A (p.Ile1502=)
n.5090T>A
n.5092T>A
c.4860T>A (p.Ile1620=)
c.4854T>A (p.Ile1618=)
c.4746T>A (p.Ile1582=)
n.4875T>A
11g.77199736T>CCA475796586MYO7Ac.4770T>C (p.Ile1590=)
c.2611T>C
c.4623T>C (p.Ile1541=)
c.2199T>C (p.Ile733=)
c.4656T>C (p.Ile1552=)
n.2309T>C
c.4764T>C (p.Ile1588=)
c.4737T>C (p.Ile1579=)
c.4674T>C (p.Ile1558=)
c.4545T>C (p.Ile1515=)
c.4533T>C (p.Ile1511=)
c.4506T>C (p.Ile1502=)
n.5090T>C
n.5092T>C
c.4860T>C (p.Ile1620=)
c.4854T>C (p.Ile1618=)
c.4746T>C (p.Ile1582=)
n.4875T>C
11g.77199736T>GCA381950899MYO7Ac.4770T>G (p.Ile1590Met)
c.2611T>G
c.4623T>G (p.Ile1541Met)
c.2199T>G (p.Ile733Met)
c.4656T>G (p.Ile1552Met)
n.2309T>G
c.4764T>G (p.Ile1588Met)
c.4737T>G (p.Ile1579Met)
c.4674T>G (p.Ile1558Met)
c.4545T>G (p.Ile1515Met)
c.4533T>G (p.Ile1511Met)
c.4506T>G (p.Ile1502Met)
n.5090T>G
n.5092T>G
c.4860T>G (p.Ile1620Met)
c.4854T>G (p.Ile1618Met)
c.4746T>G (p.Ile1582Met)
n.4875T>G
11g.77199737C>ACA6198540MYO7Ac.4771C>A (p.Arg1591Ser)
c.2612C>A
c.4624C>A (p.Arg1542Ser)
c.2200C>A (p.Arg734Ser)
c.4657C>A (p.Arg1553Ser)
n.2310C>A
c.4765C>A (p.Arg1589Ser)
c.4738C>A (p.Arg1580Ser)
c.4675C>A (p.Arg1559Ser)
c.4546C>A (p.Arg1516Ser)
c.4534C>A (p.Arg1512Ser)
c.4507C>A (p.Arg1503Ser)
n.5091C>A
n.5093C>A
c.4861C>A (p.Arg1621Ser)
c.4855C>A (p.Arg1619Ser)
c.4747C>A (p.Arg1583Ser)
n.4876C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199737C=CA1984122832MYO7Ac.4771C= (p.Arg1591=)
c.2612C=
c.4624C= (p.Arg1542=)
c.2200C= (p.Arg734=)
c.4657C= (p.Arg1553=)
n.2310C=
c.4765C= (p.Arg1589=)
c.4738C= (p.Arg1580=)
c.4675C= (p.Arg1559=)
c.4546C= (p.Arg1516=)
c.4534C= (p.Arg1512=)
c.4507C= (p.Arg1503=)
n.5091C=
n.5093C=
c.4861C= (p.Arg1621=)
c.4855C= (p.Arg1619=)
c.4747C= (p.Arg1583=)
n.4876C=
11g.77199737C>GCA381950900MYO7Ac.4771C>G (p.Arg1591Gly)
c.2612C>G
c.4624C>G (p.Arg1542Gly)
c.2200C>G (p.Arg734Gly)
c.4657C>G (p.Arg1553Gly)
n.2310C>G
c.4765C>G (p.Arg1589Gly)
c.4738C>G (p.Arg1580Gly)
c.4675C>G (p.Arg1559Gly)
c.4546C>G (p.Arg1516Gly)
c.4534C>G (p.Arg1512Gly)
c.4507C>G (p.Arg1503Gly)
n.5091C>G
n.5093C>G
c.4861C>G (p.Arg1621Gly)
c.4855C>G (p.Arg1619Gly)
c.4747C>G (p.Arg1583Gly)
n.4876C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77199737C>TCA6198539MYO7Ac.4771C>T (p.Arg1591Cys)
c.2612C>T
c.4624C>T (p.Arg1542Cys)
c.2200C>T (p.Arg734Cys)
c.4657C>T (p.Arg1553Cys)
n.2310C>T
c.4765C>T (p.Arg1589Cys)
c.4738C>T (p.Arg1580Cys)
c.4675C>T (p.Arg1559Cys)
c.4546C>T (p.Arg1516Cys)
c.4534C>T (p.Arg1512Cys)
c.4507C>T (p.Arg1503Cys)
n.5091C>T
n.5093C>T
c.4861C>T (p.Arg1621Cys)
c.4855C>T (p.Arg1619Cys)
c.4747C>T (p.Arg1583Cys)
n.4876C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199738G>ACA6198541MYO7Ac.4772G>A (p.Arg1591His)
c.2613G>A
c.4625G>A (p.Arg1542His)
c.2201G>A (p.Arg734His)
c.4658G>A (p.Arg1553His)
n.2311G>A
c.4766G>A (p.Arg1589His)
c.4739G>A (p.Arg1580His)
c.4676G>A (p.Arg1559His)
c.4547G>A (p.Arg1516His)
c.4535G>A (p.Arg1512His)
c.4508G>A (p.Arg1503His)
n.5092G>A
n.5094G>A
c.4862G>A (p.Arg1621His)
c.4856G>A (p.Arg1619His)
c.4748G>A (p.Arg1583His)
n.4877G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199738G>CCA381950902MYO7Ac.4772G>C (p.Arg1591Pro)
c.2613G>C
c.4625G>C (p.Arg1542Pro)
c.2201G>C (p.Arg734Pro)
c.4658G>C (p.Arg1553Pro)
n.2311G>C
c.4766G>C (p.Arg1589Pro)
c.4739G>C (p.Arg1580Pro)
c.4676G>C (p.Arg1559Pro)
c.4547G>C (p.Arg1516Pro)
c.4535G>C (p.Arg1512Pro)
c.4508G>C (p.Arg1503Pro)
n.5092G>C
n.5094G>C
c.4862G>C (p.Arg1621Pro)
c.4856G>C (p.Arg1619Pro)
c.4748G>C (p.Arg1583Pro)
n.4877G>C
11g.77199738G=CA1984122837MYO7Ac.4772G= (p.Arg1591=)
c.2613G=
c.4625G= (p.Arg1542=)
c.2201G= (p.Arg734=)
c.4658G= (p.Arg1553=)
n.2311G=
c.4766G= (p.Arg1589=)
c.4739G= (p.Arg1580=)
c.4676G= (p.Arg1559=)
c.4547G= (p.Arg1516=)
c.4535G= (p.Arg1512=)
c.4508G= (p.Arg1503=)
n.5092G=
n.5094G=
c.4862G= (p.Arg1621=)
c.4856G= (p.Arg1619=)
c.4748G= (p.Arg1583=)
n.4877G=
11g.77199738G>TCA381950901MYO7Ac.4772G>T (p.Arg1591Leu)
c.2613G>T
c.4625G>T (p.Arg1542Leu)
c.2201G>T (p.Arg734Leu)
c.4658G>T (p.Arg1553Leu)
n.2311G>T
c.4766G>T (p.Arg1589Leu)
c.4739G>T (p.Arg1580Leu)
c.4676G>T (p.Arg1559Leu)
c.4547G>T (p.Arg1516Leu)
c.4535G>T (p.Arg1512Leu)
c.4508G>T (p.Arg1503Leu)
n.5092G>T
n.5094G>T
c.4862G>T (p.Arg1621Leu)
c.4856G>T (p.Arg1619Leu)
c.4748G>T (p.Arg1583Leu)
n.4877G>T
11g.77199739T>ACA475796590MYO7Ac.4773T>A (p.Arg1591=)
c.2614T>A
c.4626T>A (p.Arg1542=)
c.2202T>A (p.Arg734=)
c.4659T>A (p.Arg1553=)
n.2312T>A
c.4767T>A (p.Arg1589=)
c.4740T>A (p.Arg1580=)
c.4677T>A (p.Arg1559=)
c.4548T>A (p.Arg1516=)
c.4536T>A (p.Arg1512=)
c.4509T>A (p.Arg1503=)
n.5093T>A
n.5095T>A
c.4863T>A (p.Arg1621=)
c.4857T>A (p.Arg1619=)
c.4749T>A (p.Arg1583=)
n.4878T>A
11g.77199739T>CCA475796592MYO7Ac.4773T>C (p.Arg1591=)
c.2614T>C
c.4626T>C (p.Arg1542=)
c.2202T>C (p.Arg734=)
c.4659T>C (p.Arg1553=)
n.2312T>C
c.4767T>C (p.Arg1589=)
c.4740T>C (p.Arg1580=)
c.4677T>C (p.Arg1559=)
c.4548T>C (p.Arg1516=)
c.4536T>C (p.Arg1512=)
c.4509T>C (p.Arg1503=)
n.5093T>C
n.5095T>C
c.4863T>C (p.Arg1621=)
c.4857T>C (p.Arg1619=)
c.4749T>C (p.Arg1583=)
n.4878T>C
11g.77199739T>GCA475796593MYO7Ac.4773T>G (p.Arg1591=)
c.2614T>G
c.4626T>G (p.Arg1542=)
c.2202T>G (p.Arg734=)
c.4659T>G (p.Arg1553=)
n.2312T>G
c.4767T>G (p.Arg1589=)
c.4740T>G (p.Arg1580=)
c.4677T>G (p.Arg1559=)
c.4548T>G (p.Arg1516=)
c.4536T>G (p.Arg1512=)
c.4509T>G (p.Arg1503=)
n.5093T>G
n.5095T>G
c.4863T>G (p.Arg1621=)
c.4857T>G (p.Arg1619=)
c.4749T>G (p.Arg1583=)
n.4878T>G
11g.77199740G>ACA381950903MYO7Ac.4774G>A (p.Asp1592Asn)
c.2615G>A
c.4627G>A (p.Asp1543Asn)
c.2203G>A (p.Asp735Asn)
c.4660G>A (p.Asp1554Asn)
n.2313G>A
c.4768G>A (p.Asp1590Asn)
c.4741G>A (p.Asp1581Asn)
c.4678G>A (p.Asp1560Asn)
c.4549G>A (p.Asp1517Asn)
c.4537G>A (p.Asp1513Asn)
c.4510G>A (p.Asp1504Asn)
n.5094G>A
n.5096G>A
c.4864G>A (p.Asp1622Asn)
c.4858G>A (p.Asp1620Asn)
c.4750G>A (p.Asp1584Asn)
n.4879G>A
11g.77199740G>CCA381950904MYO7Ac.4774G>C (p.Asp1592His)
c.2615G>C
c.4627G>C (p.Asp1543His)
c.2203G>C (p.Asp735His)
c.4660G>C (p.Asp1554His)
n.2313G>C
c.4768G>C (p.Asp1590His)
c.4741G>C (p.Asp1581His)
c.4678G>C (p.Asp1560His)
c.4549G>C (p.Asp1517His)
c.4537G>C (p.Asp1513His)
c.4510G>C (p.Asp1504His)
n.5094G>C
n.5096G>C
c.4864G>C (p.Asp1622His)
c.4858G>C (p.Asp1620His)
c.4750G>C (p.Asp1584His)
n.4879G>C
11g.77199740G>TCA381950905MYO7Ac.4774G>T (p.Asp1592Tyr)
c.2615G>T
c.4627G>T (p.Asp1543Tyr)
c.2203G>T (p.Asp735Tyr)
c.4660G>T (p.Asp1554Tyr)
n.2313G>T
c.4768G>T (p.Asp1590Tyr)
c.4741G>T (p.Asp1581Tyr)
c.4678G>T (p.Asp1560Tyr)
c.4549G>T (p.Asp1517Tyr)
c.4537G>T (p.Asp1513Tyr)
c.4510G>T (p.Asp1504Tyr)
n.5094G>T
n.5096G>T
c.4864G>T (p.Asp1622Tyr)
c.4858G>T (p.Asp1620Tyr)
c.4750G>T (p.Asp1584Tyr)
n.4879G>T
11g.77199741A>CCA381950906MYO7Ac.4775A>C (p.Asp1592Ala)
c.2616A>C
c.4628A>C (p.Asp1543Ala)
c.2204A>C (p.Asp735Ala)
c.4661A>C (p.Asp1554Ala)
n.2314A>C
c.4769A>C (p.Asp1590Ala)
c.4742A>C (p.Asp1581Ala)
c.4679A>C (p.Asp1560Ala)
c.4550A>C (p.Asp1517Ala)
c.4538A>C (p.Asp1513Ala)
c.4511A>C (p.Asp1504Ala)
n.5095A>C
n.5097A>C
c.4865A>C (p.Asp1622Ala)
c.4859A>C (p.Asp1620Ala)
c.4751A>C (p.Asp1584Ala)
n.4880A>C
11g.77199741A>GCA381950907MYO7Ac.4775A>G (p.Asp1592Gly)
c.2616A>G
c.4628A>G (p.Asp1543Gly)
c.2204A>G (p.Asp735Gly)
c.4661A>G (p.Asp1554Gly)
n.2314A>G
c.4769A>G (p.Asp1590Gly)
c.4742A>G (p.Asp1581Gly)
c.4679A>G (p.Asp1560Gly)
c.4550A>G (p.Asp1517Gly)
c.4538A>G (p.Asp1513Gly)
c.4511A>G (p.Asp1504Gly)
n.5095A>G
n.5097A>G
c.4865A>G (p.Asp1622Gly)
c.4859A>G (p.Asp1620Gly)
c.4751A>G (p.Asp1584Gly)
n.4880A>G
11g.77199741A>TCA381950908MYO7Ac.4775A>T (p.Asp1592Val)
c.2616A>T
c.4628A>T (p.Asp1543Val)
c.2204A>T (p.Asp735Val)
c.4661A>T (p.Asp1554Val)
n.2314A>T
c.4769A>T (p.Asp1590Val)
c.4742A>T (p.Asp1581Val)
c.4679A>T (p.Asp1560Val)
c.4550A>T (p.Asp1517Val)
c.4538A>T (p.Asp1513Val)
c.4511A>T (p.Asp1504Val)
n.5095A>T
n.5097A>T
c.4865A>T (p.Asp1622Val)
c.4859A>T (p.Asp1620Val)
c.4751A>T (p.Asp1584Val)
n.4880A>T
11g.77199742C>ACA381950909MYO7Ac.4776C>A (p.Asp1592Glu)
c.2617C>A
c.4629C>A (p.Asp1543Glu)
c.2205C>A (p.Asp735Glu)
c.4662C>A (p.Asp1554Glu)
n.2315C>A
c.4770C>A (p.Asp1590Glu)
c.4743C>A (p.Asp1581Glu)
c.4680C>A (p.Asp1560Glu)
c.4551C>A (p.Asp1517Glu)
c.4539C>A (p.Asp1513Glu)
c.4512C>A (p.Asp1504Glu)
n.5096C>A
n.5098C>A
c.4866C>A (p.Asp1622Glu)
c.4860C>A (p.Asp1620Glu)
c.4752C>A (p.Asp1584Glu)
n.4881C>A
11g.77199742C>GCA381950910MYO7Ac.4776C>G (p.Asp1592Glu)
c.2617C>G
c.4629C>G (p.Asp1543Glu)
c.2205C>G (p.Asp735Glu)
c.4662C>G (p.Asp1554Glu)
n.2315C>G
c.4770C>G (p.Asp1590Glu)
c.4743C>G (p.Asp1581Glu)
c.4680C>G (p.Asp1560Glu)
c.4551C>G (p.Asp1517Glu)
c.4539C>G (p.Asp1513Glu)
c.4512C>G (p.Asp1504Glu)
n.5096C>G
n.5098C>G
c.4866C>G (p.Asp1622Glu)
c.4860C>G (p.Asp1620Glu)
c.4752C>G (p.Asp1584Glu)
n.4881C>G
11g.77199742C>TCA475796594MYO7Ac.4776C>T (p.Asp1592=)
c.2617C>T
c.4629C>T (p.Asp1543=)
c.2205C>T (p.Asp735=)
c.4662C>T (p.Asp1554=)
n.2315C>T
c.4770C>T (p.Asp1590=)
c.4743C>T (p.Asp1581=)
c.4680C>T (p.Asp1560=)
c.4551C>T (p.Asp1517=)
c.4539C>T (p.Asp1513=)
c.4512C>T (p.Asp1504=)
n.5096C>T
n.5098C>T
c.4866C>T (p.Asp1622=)
c.4860C>T (p.Asp1620=)
c.4752C>T (p.Asp1584=)
n.4881C>T
 ClinVar dbSNP
11g.77199743C>ACA381950911MYO7Ac.4777C>A (p.Leu1593Met)
c.2618C>A
c.4630C>A (p.Leu1544Met)
c.2206C>A (p.Leu736Met)
c.4663C>A (p.Leu1555Met)
n.2316C>A
c.4771C>A (p.Leu1591Met)
c.4744C>A (p.Leu1582Met)
c.4681C>A (p.Leu1561Met)
c.4552C>A (p.Leu1518Met)
c.4540C>A (p.Leu1514Met)
c.4513C>A (p.Leu1505Met)
n.5097C>A
n.5099C>A
c.4867C>A (p.Leu1623Met)
c.4861C>A (p.Leu1621Met)
c.4753C>A (p.Leu1585Met)
n.4882C>A
 gnomAD v4
11g.77199743C=CA1984122843MYO7Ac.4777C= (p.Leu1593=)
c.2618C=
c.4630C= (p.Leu1544=)
c.2206C= (p.Leu736=)
c.4663C= (p.Leu1555=)
n.2316C=
c.4771C= (p.Leu1591=)
c.4744C= (p.Leu1582=)
c.4681C= (p.Leu1561=)
c.4552C= (p.Leu1518=)
c.4540C= (p.Leu1514=)
c.4513C= (p.Leu1505=)
n.5097C=
n.5099C=
c.4867C= (p.Leu1623=)
c.4861C= (p.Leu1621=)
c.4753C= (p.Leu1585=)
n.4882C=
11g.77199743C>GCA6198542MYO7Ac.4777C>G (p.Leu1593Val)
c.2618C>G
c.4630C>G (p.Leu1544Val)
c.2206C>G (p.Leu736Val)
c.4663C>G (p.Leu1555Val)
n.2316C>G
c.4771C>G (p.Leu1591Val)
c.4744C>G (p.Leu1582Val)
c.4681C>G (p.Leu1561Val)
c.4552C>G (p.Leu1518Val)
c.4540C>G (p.Leu1514Val)
c.4513C>G (p.Leu1505Val)
n.5097C>G
n.5099C>G
c.4867C>G (p.Leu1623Val)
c.4861C>G (p.Leu1621Val)
c.4753C>G (p.Leu1585Val)
n.4882C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77199743C>TCA224849361MYO7Ac.4777C>T (p.Leu1593=)
c.2618C>T
c.4630C>T (p.Leu1544=)
c.2206C>T (p.Leu736=)
c.4663C>T (p.Leu1555=)
n.2316C>T
c.4771C>T (p.Leu1591=)
c.4744C>T (p.Leu1582=)
c.4681C>T (p.Leu1561=)
c.4552C>T (p.Leu1518=)
c.4540C>T (p.Leu1514=)
c.4513C>T (p.Leu1505=)
n.5097C>T
n.5099C>T
c.4867C>T (p.Leu1623=)
c.4861C>T (p.Leu1621=)
c.4753C>T (p.Leu1585=)
n.4882C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77199743_77199744insACCA2792789856MYO7Ac.4777_4778insAC (p.Leu1593HisfsTer7)
c.2618_2619insAC
c.4630_4631insAC (p.Leu1544HisfsTer7)
c.2206_2207insAC (p.Leu736HisfsTer7)
c.4663_4664insAC (p.Leu1555HisfsTer7)
n.2316_2317insAC
c.4771_4772insAC (p.Leu1591HisfsTer7)
c.4744_4745insAC (p.Leu1582HisfsTer7)
c.4681_4682insAC (p.Leu1561HisfsTer7)
c.4552_4553insAC (p.Leu1518HisfsTer7)
c.4540_4541insAC (p.Leu1514HisfsTer7)
c.4513_4514insAC (p.Leu1505HisfsTer7)
n.5097_5098insAC
n.5099_5100insAC
c.4867_4868insAC (p.Leu1623HisfsTer7)
c.4861_4862insAC (p.Leu1621HisfsTer7)
c.4753_4754insAC (p.Leu1585HisfsTer7)
n.4882_4883insAC
11g.77199744T>ACA381950912MYO7Ac.4778T>A (p.Leu1593Gln)
c.2619T>A
c.4631T>A (p.Leu1544Gln)
c.2207T>A (p.Leu736Gln)
c.4664T>A (p.Leu1555Gln)
n.2317T>A
c.4772T>A (p.Leu1591Gln)
c.4745T>A (p.Leu1582Gln)
c.4682T>A (p.Leu1561Gln)
c.4553T>A (p.Leu1518Gln)
c.4541T>A (p.Leu1514Gln)
c.4514T>A (p.Leu1505Gln)
n.5098T>A
n.5100T>A
c.4868T>A (p.Leu1623Gln)
c.4862T>A (p.Leu1621Gln)
c.4754T>A (p.Leu1585Gln)
n.4883T>A
11g.77199744T>CCA381950913MYO7Ac.4778T>C (p.Leu1593Pro)
c.2619T>C
c.4631T>C (p.Leu1544Pro)
c.2207T>C (p.Leu736Pro)
c.4664T>C (p.Leu1555Pro)
n.2317T>C
c.4772T>C (p.Leu1591Pro)
c.4745T>C (p.Leu1582Pro)
c.4682T>C (p.Leu1561Pro)
c.4553T>C (p.Leu1518Pro)
c.4541T>C (p.Leu1514Pro)
c.4514T>C (p.Leu1505Pro)
n.5098T>C
n.5100T>C
c.4868T>C (p.Leu1623Pro)
c.4862T>C (p.Leu1621Pro)
c.4754T>C (p.Leu1585Pro)
n.4883T>C
11g.77199744T>GCA381950914MYO7Ac.4778T>G (p.Leu1593Arg)
c.2619T>G
c.4631T>G (p.Leu1544Arg)
c.2207T>G (p.Leu736Arg)
c.4664T>G (p.Leu1555Arg)
n.2317T>G
c.4772T>G (p.Leu1591Arg)
c.4745T>G (p.Leu1582Arg)
c.4682T>G (p.Leu1561Arg)
c.4553T>G (p.Leu1518Arg)
c.4541T>G (p.Leu1514Arg)
c.4514T>G (p.Leu1505Arg)
n.5098T>G
n.5100T>G
c.4868T>G (p.Leu1623Arg)
c.4862T>G (p.Leu1621Arg)
c.4754T>G (p.Leu1585Arg)
n.4883T>G
 dbSNP
11g.77199744T=CA1984122845MYO7Ac.4778T= (p.Leu1593=)
c.2619T=
c.4631T= (p.Leu1544=)
c.2207T= (p.Leu736=)
c.4664T= (p.Leu1555=)
n.2317T=
c.4772T= (p.Leu1591=)
c.4745T= (p.Leu1582=)
c.4682T= (p.Leu1561=)
c.4553T= (p.Leu1518=)
c.4541T= (p.Leu1514=)
c.4514T= (p.Leu1505=)
n.5098T=
n.5100T=
c.4868T= (p.Leu1623=)
c.4862T= (p.Leu1621=)
c.4754T= (p.Leu1585=)
n.4883T=
11g.77199745G>ACA475796601MYO7Ac.4779G>A (p.Leu1593=)
c.2620G>A
c.4632G>A (p.Leu1544=)
c.2208G>A (p.Leu736=)
c.4665G>A (p.Leu1555=)
n.2318G>A
c.4773G>A (p.Leu1591=)
c.4746G>A (p.Leu1582=)
c.4683G>A (p.Leu1561=)
c.4554G>A (p.Leu1518=)
c.4542G>A (p.Leu1514=)
c.4515G>A (p.Leu1505=)
n.5099G>A
n.5101G>A
c.4869G>A (p.Leu1623=)
c.4863G>A (p.Leu1621=)
c.4755G>A (p.Leu1585=)
n.4884G>A
 dbSNP gnomAD v2
11g.77199745G>CCA475796598MYO7Ac.4779G>C (p.Leu1593=)
c.2620G>C
c.4632G>C (p.Leu1544=)
c.2208G>C (p.Leu736=)
c.4665G>C (p.Leu1555=)
n.2318G>C
c.4773G>C (p.Leu1591=)
c.4746G>C (p.Leu1582=)
c.4683G>C (p.Leu1561=)
c.4554G>C (p.Leu1518=)
c.4542G>C (p.Leu1514=)
c.4515G>C (p.Leu1505=)
n.5099G>C
n.5101G>C
c.4869G>C (p.Leu1623=)
c.4863G>C (p.Leu1621=)
c.4755G>C (p.Leu1585=)
n.4884G>C
 gnomAD v4
11g.77199745G=CA1984122848MYO7Ac.4779G= (p.Leu1593=)
c.2620G=
c.4632G= (p.Leu1544=)
c.2208G= (p.Leu736=)
c.4665G= (p.Leu1555=)
n.2318G=
c.4773G= (p.Leu1591=)
c.4746G= (p.Leu1582=)
c.4683G= (p.Leu1561=)
c.4554G= (p.Leu1518=)
c.4542G= (p.Leu1514=)
c.4515G= (p.Leu1505=)
n.5099G=
n.5101G=
c.4869G= (p.Leu1623=)
c.4863G= (p.Leu1621=)
c.4755G= (p.Leu1585=)
n.4884G=
11g.77199745G>TCA475796599MYO7Ac.4779G>T (p.Leu1593=)
c.2620G>T
c.4632G>T (p.Leu1544=)
c.2208G>T (p.Leu736=)
c.4665G>T (p.Leu1555=)
n.2318G>T
c.4773G>T (p.Leu1591=)
c.4746G>T (p.Leu1582=)
c.4683G>T (p.Leu1561=)
c.4554G>T (p.Leu1518=)
c.4542G>T (p.Leu1514=)
c.4515G>T (p.Leu1505=)
n.5099G>T
n.5101G>T
c.4869G>T (p.Leu1623=)
c.4863G>T (p.Leu1621=)
c.4755G>T (p.Leu1585=)
n.4884G>T
 gnomAD v4
11g.77199746G>ACA381950917MYO7Ac.4780G>A (p.Val1594Met)
c.2621G>A
c.4633G>A (p.Val1545Met)
c.2209G>A (p.Val737Met)
c.4666G>A (p.Val1556Met)
n.2319G>A
c.4774G>A (p.Val1592Met)
c.4747G>A (p.Val1583Met)
c.4684G>A (p.Val1562Met)
c.4555G>A (p.Val1519Met)
c.4543G>A (p.Val1515Met)
c.4516G>A (p.Val1506Met)
n.5100G>A
n.5102G>A
c.4870G>A (p.Val1624Met)
c.4864G>A (p.Val1622Met)
c.4756G>A (p.Val1586Met)
n.4885G>A
 gnomAD v4
11g.77199746G>CCA381950916MYO7Ac.4780G>C (p.Val1594Leu)
c.2621G>C
c.4633G>C (p.Val1545Leu)
c.2209G>C (p.Val737Leu)
c.4666G>C (p.Val1556Leu)
n.2319G>C
c.4774G>C (p.Val1592Leu)
c.4747G>C (p.Val1583Leu)
c.4684G>C (p.Val1562Leu)
c.4555G>C (p.Val1519Leu)
c.4543G>C (p.Val1515Leu)
c.4516G>C (p.Val1506Leu)
n.5100G>C
n.5102G>C
c.4870G>C (p.Val1624Leu)
c.4864G>C (p.Val1622Leu)
c.4756G>C (p.Val1586Leu)
n.4885G>C
 dbSNP gnomAD v3 gnomAD v4
11g.77199746G=CA1984122852MYO7Ac.4780G= (p.Val1594=)
c.2621G=
c.4633G= (p.Val1545=)
c.2209G= (p.Val737=)
c.4666G= (p.Val1556=)
n.2319G=
c.4774G= (p.Val1592=)
c.4747G= (p.Val1583=)
c.4684G= (p.Val1562=)
c.4555G= (p.Val1519=)
c.4543G= (p.Val1515=)
c.4516G= (p.Val1506=)
n.5100G=
n.5102G=
c.4870G= (p.Val1624=)
c.4864G= (p.Val1622=)
c.4756G= (p.Val1586=)
n.4885G=
11g.77199746G>TCA381950915MYO7Ac.4780G>T (p.Val1594Leu)
c.2621G>T
c.4633G>T (p.Val1545Leu)
c.2209G>T (p.Val737Leu)
c.4666G>T (p.Val1556Leu)
n.2319G>T
c.4774G>T (p.Val1592Leu)
c.4747G>T (p.Val1583Leu)
c.4684G>T (p.Val1562Leu)
c.4555G>T (p.Val1519Leu)
c.4543G>T (p.Val1515Leu)
c.4516G>T (p.Val1506Leu)
n.5100G>T
n.5102G>T
c.4870G>T (p.Val1624Leu)
c.4864G>T (p.Val1622Leu)
c.4756G>T (p.Val1586Leu)
n.4885G>T
11g.77199747T>ACA381950918MYO7Ac.4781T>A (p.Val1594Glu)
c.2622T>A
c.4634T>A (p.Val1545Glu)
c.2210T>A (p.Val737Glu)
c.4667T>A (p.Val1556Glu)
n.2320T>A
c.4775T>A (p.Val1592Glu)
c.4748T>A (p.Val1583Glu)
c.4685T>A (p.Val1562Glu)
c.4556T>A (p.Val1519Glu)
c.4544T>A (p.Val1515Glu)
c.4517T>A (p.Val1506Glu)
n.5101T>A
n.5103T>A
c.4871T>A (p.Val1624Glu)
c.4865T>A (p.Val1622Glu)
c.4757T>A (p.Val1586Glu)
n.4886T>A
11g.77199747T>CCA381950919MYO7Ac.4781T>C (p.Val1594Ala)
c.2622T>C
c.4634T>C (p.Val1545Ala)
c.2210T>C (p.Val737Ala)
c.4667T>C (p.Val1556Ala)
n.2320T>C
c.4775T>C (p.Val1592Ala)
c.4748T>C (p.Val1583Ala)
c.4685T>C (p.Val1562Ala)
c.4556T>C (p.Val1519Ala)
c.4544T>C (p.Val1515Ala)
c.4517T>C (p.Val1506Ala)
n.5101T>C
n.5103T>C
c.4871T>C (p.Val1624Ala)
c.4865T>C (p.Val1622Ala)
c.4757T>C (p.Val1586Ala)
n.4886T>C
11g.77199747T>GCA381950920MYO7Ac.4781T>G (p.Val1594Gly)
c.2622T>G
c.4634T>G (p.Val1545Gly)
c.2210T>G (p.Val737Gly)
c.4667T>G (p.Val1556Gly)
n.2320T>G
c.4775T>G (p.Val1592Gly)
c.4748T>G (p.Val1583Gly)
c.4685T>G (p.Val1562Gly)
c.4556T>G (p.Val1519Gly)
c.4544T>G (p.Val1515Gly)
c.4517T>G (p.Val1506Gly)
n.5101T>G
n.5103T>G
c.4871T>G (p.Val1624Gly)
c.4865T>G (p.Val1622Gly)
c.4757T>G (p.Val1586Gly)
n.4886T>G
11g.77199748G>ACA475796610MYO7Ac.4782G>A (p.Val1594=)
c.2623G>A
c.4635G>A (p.Val1545=)
c.2211G>A (p.Val737=)
c.4668G>A (p.Val1556=)
n.2321G>A
c.4776G>A (p.Val1592=)
c.4749G>A (p.Val1583=)
c.4686G>A (p.Val1562=)
c.4557G>A (p.Val1519=)
c.4545G>A (p.Val1515=)
c.4518G>A (p.Val1506=)
n.5102G>A
n.5104G>A
c.4872G>A (p.Val1624=)
c.4866G>A (p.Val1622=)
c.4758G>A (p.Val1586=)
n.4887G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77199748G>CCA475796609MYO7Ac.4782G>C (p.Val1594=)
c.2623G>C
c.4635G>C (p.Val1545=)
c.2211G>C (p.Val737=)
c.4668G>C (p.Val1556=)
n.2321G>C
c.4776G>C (p.Val1592=)
c.4749G>C (p.Val1583=)
c.4686G>C (p.Val1562=)
c.4557G>C (p.Val1519=)
c.4545G>C (p.Val1515=)
c.4518G>C (p.Val1506=)
n.5102G>C
n.5104G>C
c.4872G>C (p.Val1624=)
c.4866G>C (p.Val1622=)
c.4758G>C (p.Val1586=)
n.4887G>C
11g.77199748G=CA1984122856MYO7Ac.4782G= (p.Val1594=)
c.2623G=
c.4635G= (p.Val1545=)
c.2211G= (p.Val737=)
c.4668G= (p.Val1556=)
n.2321G=
c.4776G= (p.Val1592=)
c.4749G= (p.Val1583=)
c.4686G= (p.Val1562=)
c.4557G= (p.Val1519=)
c.4545G= (p.Val1515=)
c.4518G= (p.Val1506=)
n.5102G=
n.5104G=
c.4872G= (p.Val1624=)
c.4866G= (p.Val1622=)
c.4758G= (p.Val1586=)
n.4887G=
11g.77199748G>TCA475796608MYO7Ac.4782G>T (p.Val1594=)
c.2623G>T
c.4635G>T (p.Val1545=)
c.2211G>T (p.Val737=)
c.4668G>T (p.Val1556=)
n.2321G>T
c.4776G>T (p.Val1592=)
c.4749G>T (p.Val1583=)
c.4686G>T (p.Val1562=)
c.4557G>T (p.Val1519=)
c.4545G>T (p.Val1515=)
c.4518G>T (p.Val1506=)
n.5102G>T
n.5104G>T
c.4872G>T (p.Val1624=)
c.4866G>T (p.Val1622=)
c.4758G>T (p.Val1586=)
n.4887G>T
11g.77199749dupCA2838326050MYO7Ac.4783dup (p.Val1595GlyfsTer12)
c.2624dup
c.4636dup (p.Val1546GlyfsTer12)
c.2212dup (p.Val738GlyfsTer12)
c.4669dup (p.Val1557GlyfsTer12)
n.2322dup
c.4777dup (p.Val1593GlyfsTer12)
c.4750dup (p.Val1584GlyfsTer12)
c.4687dup (p.Val1563GlyfsTer12)
c.4558dup (p.Val1520GlyfsTer12)
c.4546dup (p.Val1516GlyfsTer12)
c.4519dup (p.Val1507GlyfsTer12)
n.5103dup
n.5105dup
c.4873dup (p.Val1625GlyfsTer12)
c.4867dup (p.Val1623GlyfsTer12)
c.4759dup (p.Val1587GlyfsTer12)
n.4888dup
11g.77199749G>ACA381950921MYO7Ac.4783G>A (p.Val1595Ile)
c.2624G>A
c.4636G>A (p.Val1546Ile)
c.2212G>A (p.Val738Ile)
c.4669G>A (p.Val1557Ile)
n.2322G>A
c.4777G>A (p.Val1593Ile)
c.4750G>A (p.Val1584Ile)
c.4687G>A (p.Val1563Ile)
c.4558G>A (p.Val1520Ile)
c.4546G>A (p.Val1516Ile)
c.4519G>A (p.Val1507Ile)
n.5103G>A
n.5105G>A
c.4873G>A (p.Val1625Ile)
c.4867G>A (p.Val1623Ile)
c.4759G>A (p.Val1587Ile)
n.4888G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77199749G>CCA381950922MYO7Ac.4783G>C (p.Val1595Leu)
c.2624G>C
c.4636G>C (p.Val1546Leu)
c.2212G>C (p.Val738Leu)
c.4669G>C (p.Val1557Leu)
n.2322G>C
c.4777G>C (p.Val1593Leu)
c.4750G>C (p.Val1584Leu)
c.4687G>C (p.Val1563Leu)
c.4558G>C (p.Val1520Leu)
c.4546G>C (p.Val1516Leu)
c.4519G>C (p.Val1507Leu)
n.5103G>C
n.5105G>C
c.4873G>C (p.Val1625Leu)
c.4867G>C (p.Val1623Leu)
c.4759G>C (p.Val1587Leu)
n.4888G>C
11g.77199749G=CA1984122858MYO7Ac.4783G= (p.Val1595=)
c.2624G=
c.4636G= (p.Val1546=)
c.2212G= (p.Val738=)
c.4669G= (p.Val1557=)
n.2322G=
c.4777G= (p.Val1593=)
c.4750G= (p.Val1584=)
c.4687G= (p.Val1563=)
c.4558G= (p.Val1520=)
c.4546G= (p.Val1516=)
c.4519G= (p.Val1507=)
n.5103G=
n.5105G=
c.4873G= (p.Val1625=)
c.4867G= (p.Val1623=)
c.4759G= (p.Val1587=)
n.4888G=
11g.77199749G>TCA381950923MYO7Ac.4783G>T (p.Val1595Phe)
c.2624G>T
c.4636G>T (p.Val1546Phe)
c.2212G>T (p.Val738Phe)
c.4669G>T (p.Val1557Phe)
n.2322G>T
c.4777G>T (p.Val1593Phe)
c.4750G>T (p.Val1584Phe)
c.4687G>T (p.Val1563Phe)
c.4558G>T (p.Val1520Phe)
c.4546G>T (p.Val1516Phe)
c.4519G>T (p.Val1507Phe)
n.5103G>T
n.5105G>T
c.4873G>T (p.Val1625Phe)
c.4867G>T (p.Val1623Phe)
c.4759G>T (p.Val1587Phe)
n.4888G>T
 gnomAD v4
11g.77199750T>ACA381950924MYO7Ac.4784T>A (p.Val1595Asp)
c.2625T>A
c.4637T>A (p.Val1546Asp)
c.2213T>A (p.Val738Asp)
c.4670T>A (p.Val1557Asp)
n.2323T>A
c.4778T>A (p.Val1593Asp)
c.4751T>A (p.Val1584Asp)
c.4688T>A (p.Val1563Asp)
c.4559T>A (p.Val1520Asp)
c.4547T>A (p.Val1516Asp)
c.4520T>A (p.Val1507Asp)
n.5104T>A
n.5106T>A
c.4874T>A (p.Val1625Asp)
c.4868T>A (p.Val1623Asp)
c.4760T>A (p.Val1587Asp)
n.4889T>A
11g.77199750T>CCA381950925MYO7Ac.4784T>C (p.Val1595Ala)
c.2625T>C
c.4637T>C (p.Val1546Ala)
c.2213T>C (p.Val738Ala)
c.4670T>C (p.Val1557Ala)
n.2323T>C
c.4778T>C (p.Val1593Ala)
c.4751T>C (p.Val1584Ala)
c.4688T>C (p.Val1563Ala)
c.4559T>C (p.Val1520Ala)
c.4547T>C (p.Val1516Ala)
c.4520T>C (p.Val1507Ala)
n.5104T>C
n.5106T>C
c.4874T>C (p.Val1625Ala)
c.4868T>C (p.Val1623Ala)
c.4760T>C (p.Val1587Ala)
n.4889T>C
11g.77199750T>GCA381950926MYO7Ac.4784T>G (p.Val1595Gly)
c.2625T>G
c.4637T>G (p.Val1546Gly)
c.2213T>G (p.Val738Gly)
c.4670T>G (p.Val1557Gly)
n.2323T>G
c.4778T>G (p.Val1593Gly)
c.4751T>G (p.Val1584Gly)
c.4688T>G (p.Val1563Gly)
c.4559T>G (p.Val1520Gly)
c.4547T>G (p.Val1516Gly)
c.4520T>G (p.Val1507Gly)
n.5104T>G
n.5106T>G
c.4874T>G (p.Val1625Gly)
c.4868T>G (p.Val1623Gly)
c.4760T>G (p.Val1587Gly)
n.4889T>G
11g.77199751C>ACA475796611MYO7Ac.4785C>A (p.Val1595=)
c.2626C>A
c.4638C>A (p.Val1546=)
c.2214C>A (p.Val738=)
c.4671C>A (p.Val1557=)
n.2324C>A
c.4779C>A (p.Val1593=)
c.4752C>A (p.Val1584=)
c.4689C>A (p.Val1563=)
c.4560C>A (p.Val1520=)
c.4548C>A (p.Val1516=)
c.4521C>A (p.Val1507=)
n.5105C>A
n.5107C>A
c.4875C>A (p.Val1625=)
c.4869C>A (p.Val1623=)
c.4761C>A (p.Val1587=)
n.4890C>A
 gnomAD v4
11g.77199751C>GCA475796613MYO7Ac.4785C>G (p.Val1595=)
c.2626C>G
c.4638C>G (p.Val1546=)
c.2214C>G (p.Val738=)
c.4671C>G (p.Val1557=)
n.2324C>G
c.4779C>G (p.Val1593=)
c.4752C>G (p.Val1584=)
c.4689C>G (p.Val1563=)
c.4560C>G (p.Val1520=)
c.4548C>G (p.Val1516=)
c.4521C>G (p.Val1507=)
n.5105C>G
n.5107C>G
c.4875C>G (p.Val1625=)
c.4869C>G (p.Val1623=)
c.4761C>G (p.Val1587=)
n.4890C>G
11g.77199751C>TCA475796612MYO7Ac.4785C>T (p.Val1595=)
c.2626C>T
c.4638C>T (p.Val1546=)
c.2214C>T (p.Val738=)
c.4671C>T (p.Val1557=)
n.2324C>T
c.4779C>T (p.Val1593=)
c.4752C>T (p.Val1584=)
c.4689C>T (p.Val1563=)
c.4560C>T (p.Val1520=)
c.4548C>T (p.Val1516=)
c.4521C>T (p.Val1507=)
n.5105C>T
n.5107C>T
c.4875C>T (p.Val1625=)
c.4869C>T (p.Val1623=)
c.4761C>T (p.Val1587=)
n.4890C>T
11g.77199752A=CA1984122861MYO7Ac.4786A= (p.Thr1596=)
c.2627A=
c.4639A= (p.Thr1547=)
c.2215A= (p.Thr739=)
c.4672A= (p.Thr1558=)
n.2325A=
c.4780A= (p.Thr1594=)
c.4753A= (p.Thr1585=)
c.4690A= (p.Thr1564=)
c.4561A= (p.Thr1521=)
c.4549A= (p.Thr1517=)
c.4522A= (p.Thr1508=)
n.5106A=
n.5108A=
c.4876A= (p.Thr1626=)
c.4870A= (p.Thr1624=)
c.4762A= (p.Thr1588=)
n.4891A=
11g.77199752A>CCA381950927MYO7Ac.4786A>C (p.Thr1596Pro)
c.2627A>C
c.4639A>C (p.Thr1547Pro)
c.2215A>C (p.Thr739Pro)
c.4672A>C (p.Thr1558Pro)
n.2325A>C
c.4780A>C (p.Thr1594Pro)
c.4753A>C (p.Thr1585Pro)
c.4690A>C (p.Thr1564Pro)
c.4561A>C (p.Thr1521Pro)
c.4549A>C (p.Thr1517Pro)
c.4522A>C (p.Thr1508Pro)
n.5106A>C
n.5108A>C
c.4876A>C (p.Thr1626Pro)
c.4870A>C (p.Thr1624Pro)
c.4762A>C (p.Thr1588Pro)
n.4891A>C
11g.77199752A>GCA381950928MYO7Ac.4786A>G (p.Thr1596Ala)
c.2627A>G
c.4639A>G (p.Thr1547Ala)
c.2215A>G (p.Thr739Ala)
c.4672A>G (p.Thr1558Ala)
n.2325A>G
c.4780A>G (p.Thr1594Ala)
c.4753A>G (p.Thr1585Ala)
c.4690A>G (p.Thr1564Ala)
c.4561A>G (p.Thr1521Ala)
c.4549A>G (p.Thr1517Ala)
c.4522A>G (p.Thr1508Ala)
n.5106A>G
n.5108A>G
c.4876A>G (p.Thr1626Ala)
c.4870A>G (p.Thr1624Ala)
c.4762A>G (p.Thr1588Ala)
n.4891A>G
 dbSNP
11g.77199752A>TCA381950929MYO7Ac.4786A>T (p.Thr1596Ser)
c.2627A>T
c.4639A>T (p.Thr1547Ser)
c.2215A>T (p.Thr739Ser)
c.4672A>T (p.Thr1558Ser)
n.2325A>T
c.4780A>T (p.Thr1594Ser)
c.4753A>T (p.Thr1585Ser)
c.4690A>T (p.Thr1564Ser)
c.4561A>T (p.Thr1521Ser)
c.4549A>T (p.Thr1517Ser)
c.4522A>T (p.Thr1508Ser)
n.5106A>T
n.5108A>T
c.4876A>T (p.Thr1626Ser)
c.4870A>T (p.Thr1624Ser)
c.4762A>T (p.Thr1588Ser)
n.4891A>T
11g.77199753C>ACA381950930MYO7Ac.4787C>A (p.Thr1596Asn)
c.2628C>A
c.4640C>A (p.Thr1547Asn)
c.2216C>A (p.Thr739Asn)
c.4673C>A (p.Thr1558Asn)
n.2326C>A
c.4781C>A (p.Thr1594Asn)
c.4754C>A (p.Thr1585Asn)
c.4691C>A (p.Thr1564Asn)
c.4562C>A (p.Thr1521Asn)
c.4550C>A (p.Thr1517Asn)
c.4523C>A (p.Thr1508Asn)
n.5107C>A
n.5109C>A
c.4877C>A (p.Thr1626Asn)
c.4871C>A (p.Thr1624Asn)
c.4763C>A (p.Thr1588Asn)
n.4892C>A
11g.77199753C>GCA381950932MYO7Ac.4787C>G (p.Thr1596Ser)
c.2628C>G
c.4640C>G (p.Thr1547Ser)
c.2216C>G (p.Thr739Ser)
c.4673C>G (p.Thr1558Ser)
n.2326C>G
c.4781C>G (p.Thr1594Ser)
c.4754C>G (p.Thr1585Ser)
c.4691C>G (p.Thr1564Ser)
c.4562C>G (p.Thr1521Ser)
c.4550C>G (p.Thr1517Ser)
c.4523C>G (p.Thr1508Ser)
n.5107C>G
n.5109C>G
c.4877C>G (p.Thr1626Ser)
c.4871C>G (p.Thr1624Ser)
c.4763C>G (p.Thr1588Ser)
n.4892C>G
11g.77199753C>TCA381950931MYO7Ac.4787C>T (p.Thr1596Ile)
c.2628C>T
c.4640C>T (p.Thr1547Ile)
c.2216C>T (p.Thr739Ile)
c.4673C>T (p.Thr1558Ile)
n.2326C>T
c.4781C>T (p.Thr1594Ile)
c.4754C>T (p.Thr1585Ile)
c.4691C>T (p.Thr1564Ile)
c.4562C>T (p.Thr1521Ile)
c.4550C>T (p.Thr1517Ile)
c.4523C>T (p.Thr1508Ile)
n.5107C>T
n.5109C>T
c.4877C>T (p.Thr1626Ile)
c.4871C>T (p.Thr1624Ile)
c.4763C>T (p.Thr1588Ile)
n.4892C>T
11g.77199754dupCA2842617580MYO7Ac.4788dup (p.Phe1597LeufsTer10)
c.2629dup
c.4641dup (p.Phe1548LeufsTer10)
c.2217dup (p.Phe740LeufsTer10)
c.4674dup (p.Phe1559LeufsTer10)
n.2327dup
c.4782dup (p.Phe1595LeufsTer10)
c.4755dup (p.Phe1586LeufsTer10)
c.4692dup (p.Phe1565LeufsTer10)
c.4563dup (p.Phe1522LeufsTer10)
c.4551dup (p.Phe1518LeufsTer10)
c.4524dup (p.Phe1509LeufsTer10)
n.5108dup
n.5110dup
c.4878dup (p.Phe1627LeufsTer10)
c.4872dup (p.Phe1625LeufsTer10)
c.4764dup (p.Phe1589LeufsTer10)
n.4893dup
11g.77199754C>ACA475796618MYO7Ac.4788C>A (p.Thr1596=)
c.2629C>A
c.4641C>A (p.Thr1547=)
c.2217C>A (p.Thr739=)
c.4674C>A (p.Thr1558=)
n.2327C>A
c.4782C>A (p.Thr1594=)
c.4755C>A (p.Thr1585=)
c.4692C>A (p.Thr1564=)
c.4563C>A (p.Thr1521=)
c.4551C>A (p.Thr1517=)
c.4524C>A (p.Thr1508=)
n.5108C>A
n.5110C>A
c.4878C>A (p.Thr1626=)
c.4872C>A (p.Thr1624=)
c.4764C>A (p.Thr1588=)
n.4893C>A
11g.77199754C>GCA475796619MYO7Ac.4788C>G (p.Thr1596=)
c.2629C>G
c.4641C>G (p.Thr1547=)
c.2217C>G (p.Thr739=)
c.4674C>G (p.Thr1558=)
n.2327C>G
c.4782C>G (p.Thr1594=)
c.4755C>G (p.Thr1585=)
c.4692C>G (p.Thr1564=)
c.4563C>G (p.Thr1521=)
c.4551C>G (p.Thr1517=)
c.4524C>G (p.Thr1508=)
n.5108C>G
n.5110C>G
c.4878C>G (p.Thr1626=)
c.4872C>G (p.Thr1624=)
c.4764C>G (p.Thr1588=)
n.4893C>G
11g.77199754C>TCA475796620MYO7Ac.4788C>T (p.Thr1596=)
c.2629C>T
c.4641C>T (p.Thr1547=)
c.2217C>T (p.Thr739=)
c.4674C>T (p.Thr1558=)
n.2327C>T
c.4782C>T (p.Thr1594=)
c.4755C>T (p.Thr1585=)
c.4692C>T (p.Thr1564=)
c.4563C>T (p.Thr1521=)
c.4551C>T (p.Thr1517=)
c.4524C>T (p.Thr1508=)
n.5108C>T
n.5110C>T
c.4878C>T (p.Thr1626=)
c.4872C>T (p.Thr1624=)
c.4764C>T (p.Thr1588=)
n.4893C>T
 gnomAD v4
11g.77199755T>ACA381950933MYO7Ac.4789T>A (p.Phe1597Ile)
c.2630T>A
c.4642T>A (p.Phe1548Ile)
c.2218T>A (p.Phe740Ile)
c.4675T>A (p.Phe1559Ile)
n.2328T>A
c.4783T>A (p.Phe1595Ile)
c.4756T>A (p.Phe1586Ile)
c.4693T>A (p.Phe1565Ile)
c.4564T>A (p.Phe1522Ile)
c.4552T>A (p.Phe1518Ile)
c.4525T>A (p.Phe1509Ile)
n.5109T>A
n.5111T>A
c.4879T>A (p.Phe1627Ile)
c.4873T>A (p.Phe1625Ile)
c.4765T>A (p.Phe1589Ile)
n.4894T>A
11g.77199755T>CCA381950935MYO7Ac.4789T>C (p.Phe1597Leu)
c.2630T>C
c.4642T>C (p.Phe1548Leu)
c.2218T>C (p.Phe740Leu)
c.4675T>C (p.Phe1559Leu)
n.2328T>C
c.4783T>C (p.Phe1595Leu)
c.4756T>C (p.Phe1586Leu)
c.4693T>C (p.Phe1565Leu)
c.4564T>C (p.Phe1522Leu)
c.4552T>C (p.Phe1518Leu)
c.4525T>C (p.Phe1509Leu)
n.5109T>C
n.5111T>C
c.4879T>C (p.Phe1627Leu)
c.4873T>C (p.Phe1625Leu)
c.4765T>C (p.Phe1589Leu)
n.4894T>C
11g.77199755T>GCA381950934MYO7Ac.4789T>G (p.Phe1597Val)
c.2630T>G
c.4642T>G (p.Phe1548Val)
c.2218T>G (p.Phe740Val)
c.4675T>G (p.Phe1559Val)
n.2328T>G
c.4783T>G (p.Phe1595Val)
c.4756T>G (p.Phe1586Val)
c.4693T>G (p.Phe1565Val)
c.4564T>G (p.Phe1522Val)
c.4552T>G (p.Phe1518Val)
c.4525T>G (p.Phe1509Val)
n.5109T>G
n.5111T>G
c.4879T>G (p.Phe1627Val)
c.4873T>G (p.Phe1625Val)
c.4765T>G (p.Phe1589Val)
n.4894T>G
11g.77199756T>ACA381950936MYO7Ac.4790T>A (p.Phe1597Tyr)
c.2631T>A
c.4643T>A (p.Phe1548Tyr)
c.2219T>A (p.Phe740Tyr)
c.4676T>A (p.Phe1559Tyr)
n.2329T>A
c.4784T>A (p.Phe1595Tyr)
c.4757T>A (p.Phe1586Tyr)
c.4694T>A (p.Phe1565Tyr)
c.4565T>A (p.Phe1522Tyr)
c.4553T>A (p.Phe1518Tyr)
c.4526T>A (p.Phe1509Tyr)
n.5110T>A
n.5112T>A
c.4880T>A (p.Phe1627Tyr)
c.4874T>A (p.Phe1625Tyr)
c.4766T>A (p.Phe1589Tyr)
n.4895T>A
11g.77199756T>CCA381950938MYO7Ac.4790T>C (p.Phe1597Ser)
c.2631T>C
c.4643T>C (p.Phe1548Ser)
c.2219T>C (p.Phe740Ser)
c.4676T>C (p.Phe1559Ser)
n.2329T>C
c.4784T>C (p.Phe1595Ser)
c.4757T>C (p.Phe1586Ser)
c.4694T>C (p.Phe1565Ser)
c.4565T>C (p.Phe1522Ser)
c.4553T>C (p.Phe1518Ser)
c.4526T>C (p.Phe1509Ser)
n.5110T>C
n.5112T>C
c.4880T>C (p.Phe1627Ser)
c.4874T>C (p.Phe1625Ser)
c.4766T>C (p.Phe1589Ser)
n.4895T>C
11g.77199756T>GCA381950937MYO7Ac.4790T>G (p.Phe1597Cys)
c.2631T>G
c.4643T>G (p.Phe1548Cys)
c.2219T>G (p.Phe740Cys)
c.4676T>G (p.Phe1559Cys)
n.2329T>G
c.4784T>G (p.Phe1595Cys)
c.4757T>G (p.Phe1586Cys)
c.4694T>G (p.Phe1565Cys)
c.4565T>G (p.Phe1522Cys)
c.4553T>G (p.Phe1518Cys)
c.4526T>G (p.Phe1509Cys)
n.5110T>G
n.5112T>G
c.4880T>G (p.Phe1627Cys)
c.4874T>G (p.Phe1625Cys)
c.4766T>G (p.Phe1589Cys)
n.4895T>G
11g.77199757C>ACA381950939MYO7Ac.4791C>A (p.Phe1597Leu)
c.2632C>A
c.4644C>A (p.Phe1548Leu)
c.2220C>A (p.Phe740Leu)
c.4677C>A (p.Phe1559Leu)
n.2330C>A
c.4785C>A (p.Phe1595Leu)
c.4758C>A (p.Phe1586Leu)
c.4695C>A (p.Phe1565Leu)
c.4566C>A (p.Phe1522Leu)
c.4554C>A (p.Phe1518Leu)
c.4527C>A (p.Phe1509Leu)
n.5111C>A
n.5113C>A
c.4881C>A (p.Phe1627Leu)
c.4875C>A (p.Phe1625Leu)
c.4767C>A (p.Phe1589Leu)
n.4896C>A
 ClinVar dbSNP gnomAD v4
11g.77199757C=CA1984122867MYO7Ac.4791C= (p.Phe1597=)
c.2632C=
c.4644C= (p.Phe1548=)
c.2220C= (p.Phe740=)
c.4677C= (p.Phe1559=)
n.2330C=
c.4785C= (p.Phe1595=)
c.4758C= (p.Phe1586=)
c.4695C= (p.Phe1565=)
c.4566C= (p.Phe1522=)
c.4554C= (p.Phe1518=)
c.4527C= (p.Phe1509=)
n.5111C=
n.5113C=
c.4881C= (p.Phe1627=)
c.4875C= (p.Phe1625=)
c.4767C= (p.Phe1589=)
n.4896C=
11g.77199757C>GCA381950940MYO7Ac.4791C>G (p.Phe1597Leu)
c.2632C>G
c.4644C>G (p.Phe1548Leu)
c.2220C>G (p.Phe740Leu)
c.4677C>G (p.Phe1559Leu)
n.2330C>G
c.4785C>G (p.Phe1595Leu)
c.4758C>G (p.Phe1586Leu)
c.4695C>G (p.Phe1565Leu)
c.4566C>G (p.Phe1522Leu)
c.4554C>G (p.Phe1518Leu)
c.4527C>G (p.Phe1509Leu)
n.5111C>G
n.5113C>G
c.4881C>G (p.Phe1627Leu)
c.4875C>G (p.Phe1625Leu)
c.4767C>G (p.Phe1589Leu)
n.4896C>G
11g.77199757C>TCA475796621MYO7Ac.4791C>T (p.Phe1597=)
c.2632C>T
c.4644C>T (p.Phe1548=)
c.2220C>T (p.Phe740=)
c.4677C>T (p.Phe1559=)
n.2330C>T
c.4785C>T (p.Phe1595=)
c.4758C>T (p.Phe1586=)
c.4695C>T (p.Phe1565=)
c.4566C>T (p.Phe1522=)
c.4554C>T (p.Phe1518=)
c.4527C>T (p.Phe1509=)
n.5111C>T
n.5113C>T
c.4881C>T (p.Phe1627=)
c.4875C>T (p.Phe1625=)
c.4767C>T (p.Phe1589=)
n.4896C>T
 COSMIC
11g.77199758C>ACA381950941MYO7Ac.4792C>A (p.Leu1598Ile)
c.2633C>A
c.4645C>A (p.Leu1549Ile)
c.2221C>A (p.Leu741Ile)
c.4678C>A (p.Leu1560Ile)
n.2331C>A
c.4786C>A (p.Leu1596Ile)
c.4759C>A (p.Leu1587Ile)
c.4696C>A (p.Leu1566Ile)
c.4567C>A (p.Leu1523Ile)
c.4555C>A (p.Leu1519Ile)
c.4528C>A (p.Leu1510Ile)
n.5112C>A
n.5114C>A
c.4882C>A (p.Leu1628Ile)
c.4876C>A (p.Leu1626Ile)
c.4768C>A (p.Leu1590Ile)
n.4897C>A
11g.77199758C>GCA381950942MYO7Ac.4792C>G (p.Leu1598Val)
c.2633C>G
c.4645C>G (p.Leu1549Val)
c.2221C>G (p.Leu741Val)
c.4678C>G (p.Leu1560Val)
n.2331C>G
c.4786C>G (p.Leu1596Val)
c.4759C>G (p.Leu1587Val)
c.4696C>G (p.Leu1566Val)
c.4567C>G (p.Leu1523Val)
c.4555C>G (p.Leu1519Val)
c.4528C>G (p.Leu1510Val)
n.5112C>G
n.5114C>G
c.4882C>G (p.Leu1628Val)
c.4876C>G (p.Leu1626Val)
c.4768C>G (p.Leu1590Val)
n.4897C>G
11g.77199758C>TCA475796623MYO7Ac.4792C>T (p.Leu1598=)
c.2633C>T
c.4645C>T (p.Leu1549=)
c.2221C>T (p.Leu741=)
c.4678C>T (p.Leu1560=)
n.2331C>T
c.4786C>T (p.Leu1596=)
c.4759C>T (p.Leu1587=)
c.4696C>T (p.Leu1566=)
c.4567C>T (p.Leu1523=)
c.4555C>T (p.Leu1519=)
c.4528C>T (p.Leu1510=)
n.5112C>T
n.5114C>T
c.4882C>T (p.Leu1628=)
c.4876C>T (p.Leu1626=)
c.4768C>T (p.Leu1590=)
n.4897C>T
11g.77199759T>ACA381950943MYO7Ac.4793T>A (p.Leu1598Gln)
c.2634T>A
c.4646T>A (p.Leu1549Gln)
c.2222T>A (p.Leu741Gln)
c.4679T>A (p.Leu1560Gln)
n.2332T>A
c.4787T>A (p.Leu1596Gln)
c.4760T>A (p.Leu1587Gln)
c.4697T>A (p.Leu1566Gln)
c.4568T>A (p.Leu1523Gln)
c.4556T>A (p.Leu1519Gln)
c.4529T>A (p.Leu1510Gln)
n.5113T>A
n.5115T>A
c.4883T>A (p.Leu1628Gln)
c.4877T>A (p.Leu1626Gln)
c.4769T>A (p.Leu1590Gln)
n.4898T>A
 gnomAD v4
11g.77199759T>CCA381950944MYO7Ac.4793T>C (p.Leu1598Pro)
c.2634T>C
c.4646T>C (p.Leu1549Pro)
c.2222T>C (p.Leu741Pro)
c.4679T>C (p.Leu1560Pro)
n.2332T>C
c.4787T>C (p.Leu1596Pro)
c.4760T>C (p.Leu1587Pro)
c.4697T>C (p.Leu1566Pro)
c.4568T>C (p.Leu1523Pro)
c.4556T>C (p.Leu1519Pro)
c.4529T>C (p.Leu1510Pro)
n.5113T>C
n.5115T>C
c.4883T>C (p.Leu1628Pro)
c.4877T>C (p.Leu1626Pro)
c.4769T>C (p.Leu1590Pro)
n.4898T>C
11g.77199759T>GCA381950945MYO7Ac.4793T>G (p.Leu1598Arg)
c.2634T>G
c.4646T>G (p.Leu1549Arg)
c.2222T>G (p.Leu741Arg)
c.4679T>G (p.Leu1560Arg)
n.2332T>G
c.4787T>G (p.Leu1596Arg)
c.4760T>G (p.Leu1587Arg)
c.4697T>G (p.Leu1566Arg)
c.4568T>G (p.Leu1523Arg)
c.4556T>G (p.Leu1519Arg)
c.4529T>G (p.Leu1510Arg)
n.5113T>G
n.5115T>G
c.4883T>G (p.Leu1628Arg)
c.4877T>G (p.Leu1626Arg)
c.4769T>G (p.Leu1590Arg)
n.4898T>G
11g.77199760A>CCA475796624MYO7Ac.4794A>C (p.Leu1598=)
c.2635A>C
c.4647A>C (p.Leu1549=)
c.2223A>C (p.Leu741=)
c.4680A>C (p.Leu1560=)
n.2333A>C
c.4788A>C (p.Leu1596=)
c.4761A>C (p.Leu1587=)
c.4698A>C (p.Leu1566=)
c.4569A>C (p.Leu1523=)
c.4557A>C (p.Leu1519=)
c.4530A>C (p.Leu1510=)
n.5114A>C
n.5116A>C
c.4884A>C (p.Leu1628=)
c.4878A>C (p.Leu1626=)
c.4770A>C (p.Leu1590=)
n.4899A>C
11g.77199760A>GCA475796625MYO7Ac.4794A>G (p.Leu1598=)
c.2635A>G
c.4647A>G (p.Leu1549=)
c.2223A>G (p.Leu741=)
c.4680A>G (p.Leu1560=)
n.2333A>G
c.4788A>G (p.Leu1596=)
c.4761A>G (p.Leu1587=)
c.4698A>G (p.Leu1566=)
c.4569A>G (p.Leu1523=)
c.4557A>G (p.Leu1519=)
c.4530A>G (p.Leu1510=)
n.5114A>G
n.5116A>G
c.4884A>G (p.Leu1628=)
c.4878A>G (p.Leu1626=)
c.4770A>G (p.Leu1590=)
n.4899A>G
 ClinVar dbSNP
11g.77199760A>TCA475796626MYO7Ac.4794A>T (p.Leu1598=)
c.2635A>T
c.4647A>T (p.Leu1549=)
c.2223A>T (p.Leu741=)
c.4680A>T (p.Leu1560=)
n.2333A>T
c.4788A>T (p.Leu1596=)
c.4761A>T (p.Leu1587=)
c.4698A>T (p.Leu1566=)
c.4569A>T (p.Leu1523=)
c.4557A>T (p.Leu1519=)
c.4530A>T (p.Leu1510=)
n.5114A>T
n.5116A>T
c.4884A>T (p.Leu1628=)
c.4878A>T (p.Leu1626=)
c.4770A>T (p.Leu1590=)
n.4899A>T
11g.77199761G>ACA381950946MYO7Ac.4795G>A (p.Glu1599Lys)
c.2636G>A
c.4648G>A (p.Glu1550Lys)
c.2224G>A (p.Glu742Lys)
c.4681G>A (p.Glu1561Lys)
n.2334G>A
c.4789G>A (p.Glu1597Lys)
c.4762G>A (p.Glu1588Lys)
c.4699G>A (p.Glu1567Lys)
c.4570G>A (p.Glu1524Lys)
c.4558G>A (p.Glu1520Lys)
c.4531G>A (p.Glu1511Lys)
n.5115G>A
n.5117G>A
c.4885G>A (p.Glu1629Lys)
c.4879G>A (p.Glu1627Lys)
c.4771G>A (p.Glu1591Lys)
n.4900G>A
11g.77199761G>CCA381950947MYO7Ac.4795G>C (p.Glu1599Gln)
c.2636G>C
c.4648G>C (p.Glu1550Gln)
c.2224G>C (p.Glu742Gln)
c.4681G>C (p.Glu1561Gln)
n.2334G>C
c.4789G>C (p.Glu1597Gln)
c.4762G>C (p.Glu1588Gln)
c.4699G>C (p.Glu1567Gln)
c.4570G>C (p.Glu1524Gln)
c.4558G>C (p.Glu1520Gln)
c.4531G>C (p.Glu1511Gln)
n.5115G>C
n.5117G>C
c.4885G>C (p.Glu1629Gln)
c.4879G>C (p.Glu1627Gln)
c.4771G>C (p.Glu1591Gln)
n.4900G>C
11g.77199761G>TCA381950948MYO7Ac.4795G>T (p.Glu1599Ter)
c.2636G>T
c.4648G>T (p.Glu1550Ter)
c.2224G>T (p.Glu742Ter)
c.4681G>T (p.Glu1561Ter)
n.2334G>T
c.4789G>T (p.Glu1597Ter)
c.4762G>T (p.Glu1588Ter)
c.4699G>T (p.Glu1567Ter)
c.4570G>T (p.Glu1524Ter)
c.4558G>T (p.Glu1520Ter)
c.4531G>T (p.Glu1511Ter)
n.5115G>T
n.5117G>T
c.4885G>T (p.Glu1629Ter)
c.4879G>T (p.Glu1627Ter)
c.4771G>T (p.Glu1591Ter)
n.4900G>T
11g.77199762A>CCA381950949MYO7Ac.4796A>C (p.Glu1599Ala)
c.2637A>C
c.4649A>C (p.Glu1550Ala)
c.2225A>C (p.Glu742Ala)
c.4682A>C (p.Glu1561Ala)
n.2335A>C
c.4790A>C (p.Glu1597Ala)
c.4763A>C (p.Glu1588Ala)
c.4700A>C (p.Glu1567Ala)
c.4571A>C (p.Glu1524Ala)
c.4559A>C (p.Glu1520Ala)
c.4532A>C (p.Glu1511Ala)
n.5116A>C
n.5118A>C
c.4886A>C (p.Glu1629Ala)
c.4880A>C (p.Glu1627Ala)
c.4772A>C (p.Glu1591Ala)
n.4901A>C
11g.77199762A>GCA381950950MYO7Ac.4796A>G (p.Glu1599Gly)
c.2637A>G
c.4649A>G (p.Glu1550Gly)
c.2225A>G (p.Glu742Gly)
c.4682A>G (p.Glu1561Gly)
n.2335A>G
c.4790A>G (p.Glu1597Gly)
c.4763A>G (p.Glu1588Gly)
c.4700A>G (p.Glu1567Gly)
c.4571A>G (p.Glu1524Gly)
c.4559A>G (p.Glu1520Gly)
c.4532A>G (p.Glu1511Gly)
n.5116A>G
n.5118A>G
c.4886A>G (p.Glu1629Gly)
c.4880A>G (p.Glu1627Gly)
c.4772A>G (p.Glu1591Gly)
n.4901A>G
11g.77199762A>TCA381950951MYO7Ac.4796A>T (p.Glu1599Val)
c.2637A>T
c.4649A>T (p.Glu1550Val)
c.2225A>T (p.Glu742Val)
c.4682A>T (p.Glu1561Val)
n.2335A>T
c.4790A>T (p.Glu1597Val)
c.4763A>T (p.Glu1588Val)
c.4700A>T (p.Glu1567Val)
c.4571A>T (p.Glu1524Val)
c.4559A>T (p.Glu1520Val)
c.4532A>T (p.Glu1511Val)
n.5116A>T
n.5118A>T
c.4886A>T (p.Glu1629Val)
c.4880A>T (p.Glu1627Val)
c.4772A>T (p.Glu1591Val)
n.4901A>T
11g.77199762_77199763delinsAGCA1984122872MYO7Ac.4796_4797delinsAG (p.Glu1599=)
c.2637_2638delinsAG
c.4649_4650delinsAG (p.Glu1550=)
c.2225_2226delinsAG (p.Glu742=)
c.4682_4683delinsAG (p.Glu1561=)
n.2335_2336delinsAG
c.4790_4791delinsAG (p.Glu1597=)
c.4763_4764delinsAG (p.Glu1588=)
c.4700_4701delinsAG (p.Glu1567=)
c.4571_4572delinsAG (p.Glu1524=)
c.4559_4560delinsAG (p.Glu1520=)
c.4532_4533delinsAG (p.Glu1511=)
n.5116_5117delinsAG
n.5118_5119delinsAG
c.4886_4887delinsAG (p.Glu1629=)
c.4880_4881delinsAG (p.Glu1627=)
c.4772_4773delinsAG (p.Glu1591=)
n.4901_4902delinsAG
11g.77199763G>ACA475796628MYO7Ac.4797G>A (p.Glu1599=)
c.2638G>A
c.4650G>A (p.Glu1550=)
c.2226G>A (p.Glu742=)
c.4683G>A (p.Glu1561=)
n.2336G>A
c.4791G>A (p.Glu1597=)
c.4764G>A (p.Glu1588=)
c.4701G>A (p.Glu1567=)
c.4572G>A (p.Glu1524=)
c.4560G>A (p.Glu1520=)
c.4533G>A (p.Glu1511=)
n.5117G>A
n.5119G>A
c.4887G>A (p.Glu1629=)
c.4881G>A (p.Glu1627=)
c.4773G>A (p.Glu1591=)
n.4902G>A
11g.77199763G>CCA381950953MYO7Ac.4797G>C (p.Glu1599Asp)
c.2638G>C
c.4650G>C (p.Glu1550Asp)
c.2226G>C (p.Glu742Asp)
c.4683G>C (p.Glu1561Asp)
n.2336G>C
c.4791G>C (p.Glu1597Asp)
c.4764G>C (p.Glu1588Asp)
c.4701G>C (p.Glu1567Asp)
c.4572G>C (p.Glu1524Asp)
c.4560G>C (p.Glu1520Asp)
c.4533G>C (p.Glu1511Asp)
n.5117G>C
n.5119G>C
c.4887G>C (p.Glu1629Asp)
c.4881G>C (p.Glu1627Asp)
c.4773G>C (p.Glu1591Asp)
n.4902G>C
11g.77199763G>TCA381950952MYO7Ac.4797G>T (p.Glu1599Asp)
c.2638G>T
c.4650G>T (p.Glu1550Asp)
c.2226G>T (p.Glu742Asp)
c.4683G>T (p.Glu1561Asp)
n.2336G>T
c.4791G>T (p.Glu1597Asp)
c.4764G>T (p.Glu1588Asp)
c.4701G>T (p.Glu1567Asp)
c.4572G>T (p.Glu1524Asp)
c.4560G>T (p.Glu1520Asp)
c.4533G>T (p.Glu1511Asp)
n.5117G>T
n.5119G>T
c.4887G>T (p.Glu1629Asp)
c.4881G>T (p.Glu1627Asp)
c.4773G>T (p.Glu1591Asp)
n.4902G>T
11g.77199766dupCA2842617581MYO7Ac.4800dup (p.Leu1601AlafsTer6)
c.2641dup
c.4653dup (p.Leu1552AlafsTer6)
c.2229dup (p.Leu744AlafsTer6)
c.4686dup (p.Leu1563AlafsTer6)
n.2339dup
c.4794dup (p.Leu1599AlafsTer6)
c.4767dup (p.Leu1590AlafsTer6)
c.4704dup (p.Leu1569AlafsTer6)
c.4575dup (p.Leu1526AlafsTer6)
c.4563dup (p.Leu1522AlafsTer6)
c.4536dup (p.Leu1513AlafsTer6)
n.5120dup
n.5122dup
c.4890dup (p.Leu1631AlafsTer6)
c.4884dup (p.Leu1629AlafsTer6)
c.4776dup (p.Leu1593AlafsTer6)
n.4905dup
11g.77199766delCA600710785MYO7Ac.4800del (p.Leu1601SerfsTer?)
c.2641del
c.4653del (p.Leu1552SerfsTer?)
c.2229del (p.Leu744SerfsTer?)
c.4686del (p.Leu1563SerfsTer?)
n.2339del
c.4794del (p.Leu1599SerfsTer?)
c.4767del (p.Leu1590SerfsTer?)
c.4704del (p.Leu1569SerfsTer?)
c.4575del (p.Leu1526SerfsTer?)
c.4563del (p.Leu1522SerfsTer?)
c.4536del (p.Leu1513SerfsTer?)
n.5120del
n.5122del
c.4890del (p.Leu1631SerfsTer?)
c.4884del (p.Leu1629SerfsTer?)
c.4776del (p.Leu1593SerfsTer?)
n.4905del
 ClinVar dbSNP gnomAD v2
11g.77199764G>ACA381950954MYO7Ac.4798G>A (p.Gly1600Arg)
c.2639G>A
c.4651G>A (p.Gly1551Arg)
c.2227G>A (p.Gly743Arg)
c.4684G>A (p.Gly1562Arg)
n.2337G>A
c.4792G>A (p.Gly1598Arg)
c.4765G>A (p.Gly1589Arg)
c.4702G>A (p.Gly1568Arg)
c.4573G>A (p.Gly1525Arg)
c.4561G>A (p.Gly1521Arg)
c.4534G>A (p.Gly1512Arg)
n.5118G>A
n.5120G>A
c.4888G>A (p.Gly1630Arg)
c.4882G>A (p.Gly1628Arg)
c.4774G>A (p.Gly1592Arg)
n.4903G>A
11g.77199764G>CCA381950955MYO7Ac.4798G>C (p.Gly1600Arg)
c.2639G>C
c.4651G>C (p.Gly1551Arg)
c.2227G>C (p.Gly743Arg)
c.4684G>C (p.Gly1562Arg)
n.2337G>C
c.4792G>C (p.Gly1598Arg)
c.4765G>C (p.Gly1589Arg)
c.4702G>C (p.Gly1568Arg)
c.4573G>C (p.Gly1525Arg)
c.4561G>C (p.Gly1521Arg)
c.4534G>C (p.Gly1512Arg)
n.5118G>C
n.5120G>C
c.4888G>C (p.Gly1630Arg)
c.4882G>C (p.Gly1628Arg)
c.4774G>C (p.Gly1592Arg)
n.4903G>C
11g.77199764G>TCA381950956MYO7Ac.4798G>T (p.Gly1600Trp)
c.2639G>T
c.4651G>T (p.Gly1551Trp)
c.2227G>T (p.Gly743Trp)
c.4684G>T (p.Gly1562Trp)
n.2337G>T
c.4792G>T (p.Gly1598Trp)
c.4765G>T (p.Gly1589Trp)
c.4702G>T (p.Gly1568Trp)
c.4573G>T (p.Gly1525Trp)
c.4561G>T (p.Gly1521Trp)
c.4534G>T (p.Gly1512Trp)
n.5118G>T
n.5120G>T
c.4888G>T (p.Gly1630Trp)
c.4882G>T (p.Gly1628Trp)
c.4774G>T (p.Gly1592Trp)
n.4903G>T
11g.77199765G>ACA381950957MYO7Ac.4799G>A (p.Gly1600Glu)
c.2640G>A
c.4652G>A (p.Gly1551Glu)
c.2228G>A (p.Gly743Glu)
c.4685G>A (p.Gly1562Glu)
n.2338G>A
c.4793G>A (p.Gly1598Glu)
c.4766G>A (p.Gly1589Glu)
c.4703G>A (p.Gly1568Glu)
c.4574G>A (p.Gly1525Glu)
c.4562G>A (p.Gly1521Glu)
c.4535G>A (p.Gly1512Glu)
n.5119G>A
n.5121G>A
c.4889G>A (p.Gly1630Glu)
c.4883G>A (p.Gly1628Glu)
c.4775G>A (p.Gly1592Glu)
n.4904G>A
11g.77199765G>CCA381950958MYO7Ac.4799G>C (p.Gly1600Ala)
c.2640G>C
c.4652G>C (p.Gly1551Ala)
c.2228G>C (p.Gly743Ala)
c.4685G>C (p.Gly1562Ala)
n.2338G>C
c.4793G>C (p.Gly1598Ala)
c.4766G>C (p.Gly1589Ala)
c.4703G>C (p.Gly1568Ala)
c.4574G>C (p.Gly1525Ala)
c.4562G>C (p.Gly1521Ala)
c.4535G>C (p.Gly1512Ala)
n.5119G>C
n.5121G>C
c.4889G>C (p.Gly1630Ala)
c.4883G>C (p.Gly1628Ala)
c.4775G>C (p.Gly1592Ala)
n.4904G>C
11g.77199765G>TCA381950959MYO7Ac.4799G>T (p.Gly1600Val)
c.2640G>T
c.4652G>T (p.Gly1551Val)
c.2228G>T (p.Gly743Val)
c.4685G>T (p.Gly1562Val)
n.2338G>T
c.4793G>T (p.Gly1598Val)
c.4766G>T (p.Gly1589Val)
c.4703G>T (p.Gly1568Val)
c.4574G>T (p.Gly1525Val)
c.4562G>T (p.Gly1521Val)
c.4535G>T (p.Gly1512Val)
n.5119G>T
n.5121G>T
c.4889G>T (p.Gly1630Val)
c.4883G>T (p.Gly1628Val)
c.4775G>T (p.Gly1592Val)
n.4904G>T
11g.77199766G>ACA475796631MYO7Ac.4800G>A (p.Gly1600=)
c.2641G>A
c.4653G>A (p.Gly1551=)
c.2229G>A (p.Gly743=)
c.4686G>A (p.Gly1562=)
n.2339G>A
c.4794G>A (p.Gly1598=)
c.4767G>A (p.Gly1589=)
c.4704G>A (p.Gly1568=)
c.4575G>A (p.Gly1525=)
c.4563G>A (p.Gly1521=)
c.4536G>A (p.Gly1512=)
n.5120G>A
n.5122G>A
c.4890G>A (p.Gly1630=)
c.4884G>A (p.Gly1628=)
c.4776G>A (p.Gly1592=)
n.4905G>A
 COSMIC
11g.77199766G>CCA475796632MYO7Ac.4800G>C (p.Gly1600=)
c.2641G>C
c.4653G>C (p.Gly1551=)
c.2229G>C (p.Gly743=)
c.4686G>C (p.Gly1562=)
n.2339G>C
c.4794G>C (p.Gly1598=)
c.4767G>C (p.Gly1589=)
c.4704G>C (p.Gly1568=)
c.4575G>C (p.Gly1525=)
c.4563G>C (p.Gly1521=)
c.4536G>C (p.Gly1512=)
n.5120G>C
n.5122G>C
c.4890G>C (p.Gly1630=)
c.4884G>C (p.Gly1628=)
c.4776G>C (p.Gly1592=)
n.4905G>C
11g.77199766G=CA1984122881MYO7Ac.4800G= (p.Gly1600=)
c.2641G=
c.4653G= (p.Gly1551=)
c.2229G= (p.Gly743=)
c.4686G= (p.Gly1562=)
n.2339G=
c.4794G= (p.Gly1598=)
c.4767G= (p.Gly1589=)
c.4704G= (p.Gly1568=)
c.4575G= (p.Gly1525=)
c.4563G= (p.Gly1521=)
c.4536G= (p.Gly1512=)
n.5120G=
n.5122G=
c.4890G= (p.Gly1630=)
c.4884G= (p.Gly1628=)
c.4776G= (p.Gly1592=)
n.4905G=
11g.77199766G>TCA132354MYO7Ac.4800G>T (p.Gly1600=)
c.2641G>T
c.4653G>T (p.Gly1551=)
c.2229G>T (p.Gly743=)
c.4686G>T (p.Gly1562=)
n.2339G>T
c.4794G>T (p.Gly1598=)
c.4767G>T (p.Gly1589=)
c.4704G>T (p.Gly1568=)
c.4575G>T (p.Gly1525=)
c.4563G>T (p.Gly1521=)
c.4536G>T (p.Gly1512=)
n.5120G>T
n.5122G>T
c.4890G>T (p.Gly1630=)
c.4884G>T (p.Gly1628=)
c.4776G>T (p.Gly1592=)
n.4905G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199767C>ACA6198543MYO7Ac.4801C>A (p.Leu1601Ile)
c.2642C>A
c.4654C>A (p.Leu1552Ile)
c.2230C>A (p.Leu744Ile)
c.4687C>A (p.Leu1563Ile)
n.2340C>A
c.4795C>A (p.Leu1599Ile)
c.4768C>A (p.Leu1590Ile)
c.4705C>A (p.Leu1569Ile)
c.4576C>A (p.Leu1526Ile)
c.4564C>A (p.Leu1522Ile)
c.4537C>A (p.Leu1513Ile)
n.5121C>A
n.5123C>A
c.4891C>A (p.Leu1631Ile)
c.4885C>A (p.Leu1629Ile)
c.4777C>A (p.Leu1593Ile)
n.4906C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199767C=CA1984122889MYO7Ac.4801C= (p.Leu1601=)
c.2642C=
c.4654C= (p.Leu1552=)
c.2230C= (p.Leu744=)
c.4687C= (p.Leu1563=)
n.2340C=
c.4795C= (p.Leu1599=)
c.4768C= (p.Leu1590=)
c.4705C= (p.Leu1569=)
c.4576C= (p.Leu1526=)
c.4564C= (p.Leu1522=)
c.4537C= (p.Leu1513=)
n.5121C=
n.5123C=
c.4891C= (p.Leu1631=)
c.4885C= (p.Leu1629=)
c.4777C= (p.Leu1593=)
n.4906C=
11g.77199767C>GCA381950960MYO7Ac.4801C>G (p.Leu1601Val)
c.2642C>G
c.4654C>G (p.Leu1552Val)
c.2230C>G (p.Leu744Val)
c.4687C>G (p.Leu1563Val)
n.2340C>G
c.4795C>G (p.Leu1599Val)
c.4768C>G (p.Leu1590Val)
c.4705C>G (p.Leu1569Val)
c.4576C>G (p.Leu1526Val)
c.4564C>G (p.Leu1522Val)
c.4537C>G (p.Leu1513Val)
n.5121C>G
n.5123C>G
c.4891C>G (p.Leu1631Val)
c.4885C>G (p.Leu1629Val)
c.4777C>G (p.Leu1593Val)
n.4906C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77199767C>TCA381950961MYO7Ac.4801C>T (p.Leu1601Phe)
c.2642C>T
c.4654C>T (p.Leu1552Phe)
c.2230C>T (p.Leu744Phe)
c.4687C>T (p.Leu1563Phe)
n.2340C>T
c.4795C>T (p.Leu1599Phe)
c.4768C>T (p.Leu1590Phe)
c.4705C>T (p.Leu1569Phe)
c.4576C>T (p.Leu1526Phe)
c.4564C>T (p.Leu1522Phe)
c.4537C>T (p.Leu1513Phe)
n.5121C>T
n.5123C>T
c.4891C>T (p.Leu1631Phe)
c.4885C>T (p.Leu1629Phe)
c.4777C>T (p.Leu1593Phe)
n.4906C>T
 dbSNP gnomAD v2 gnomAD v4
11g.77199768T>ACA381950962MYO7Ac.4802T>A (p.Leu1601His)
c.2643T>A
c.4655T>A (p.Leu1552His)
c.2231T>A (p.Leu744His)
c.4688T>A (p.Leu1563His)
n.2341T>A
c.4796T>A (p.Leu1599His)
c.4769T>A (p.Leu1590His)
c.4706T>A (p.Leu1569His)
c.4577T>A (p.Leu1526His)
c.4565T>A (p.Leu1522His)
c.4538T>A (p.Leu1513His)
n.5122T>A
n.5124T>A
c.4892T>A (p.Leu1631His)
c.4886T>A (p.Leu1629His)
c.4778T>A (p.Leu1593His)
n.4907T>A
 gnomAD v4
11g.77199768T>CCA381950963MYO7Ac.4802T>C (p.Leu1601Pro)
c.2643T>C
c.4655T>C (p.Leu1552Pro)
c.2231T>C (p.Leu744Pro)
c.4688T>C (p.Leu1563Pro)
n.2341T>C
c.4796T>C (p.Leu1599Pro)
c.4769T>C (p.Leu1590Pro)
c.4706T>C (p.Leu1569Pro)
c.4577T>C (p.Leu1526Pro)
c.4565T>C (p.Leu1522Pro)
c.4538T>C (p.Leu1513Pro)
n.5122T>C
n.5124T>C
c.4892T>C (p.Leu1631Pro)
c.4886T>C (p.Leu1629Pro)
c.4778T>C (p.Leu1593Pro)
n.4907T>C
11g.77199768T>GCA381950964MYO7Ac.4802T>G (p.Leu1601Arg)
c.2643T>G
c.4655T>G (p.Leu1552Arg)
c.2231T>G (p.Leu744Arg)
c.4688T>G (p.Leu1563Arg)
n.2341T>G
c.4796T>G (p.Leu1599Arg)
c.4769T>G (p.Leu1590Arg)
c.4706T>G (p.Leu1569Arg)
c.4577T>G (p.Leu1526Arg)
c.4565T>G (p.Leu1522Arg)
c.4538T>G (p.Leu1513Arg)
n.5122T>G
n.5124T>G
c.4892T>G (p.Leu1631Arg)
c.4886T>G (p.Leu1629Arg)
c.4778T>G (p.Leu1593Arg)
n.4907T>G
11g.77199769C>ACA475796634MYO7Ac.4803C>A (p.Leu1601=)
c.2644C>A
c.4656C>A (p.Leu1552=)
c.2232C>A (p.Leu744=)
c.4689C>A (p.Leu1563=)
n.2342C>A
c.4797C>A (p.Leu1599=)
c.4770C>A (p.Leu1590=)
c.4707C>A (p.Leu1569=)
c.4578C>A (p.Leu1526=)
c.4566C>A (p.Leu1522=)
c.4539C>A (p.Leu1513=)
n.5123C>A
n.5125C>A
c.4893C>A (p.Leu1631=)
c.4887C>A (p.Leu1629=)
c.4779C>A (p.Leu1593=)
n.4908C>A
11g.77199769C=CA1984122892MYO7Ac.4803C= (p.Leu1601=)
c.2644C=
c.4656C= (p.Leu1552=)
c.2232C= (p.Leu744=)
c.4689C= (p.Leu1563=)
n.2342C=
c.4797C= (p.Leu1599=)
c.4770C= (p.Leu1590=)
c.4707C= (p.Leu1569=)
c.4578C= (p.Leu1526=)
c.4566C= (p.Leu1522=)
c.4539C= (p.Leu1513=)
n.5123C=
n.5125C=
c.4893C= (p.Leu1631=)
c.4887C= (p.Leu1629=)
c.4779C= (p.Leu1593=)
n.4908C=
11g.77199769C>GCA6198544MYO7Ac.4803C>G (p.Leu1601=)
c.2644C>G
c.4656C>G (p.Leu1552=)
c.2232C>G (p.Leu744=)
c.4689C>G (p.Leu1563=)
n.2342C>G
c.4797C>G (p.Leu1599=)
c.4770C>G (p.Leu1590=)
c.4707C>G (p.Leu1569=)
c.4578C>G (p.Leu1526=)
c.4566C>G (p.Leu1522=)
c.4539C>G (p.Leu1513=)
n.5123C>G
n.5125C>G
c.4893C>G (p.Leu1631=)
c.4887C>G (p.Leu1629=)
c.4779C>G (p.Leu1593=)
n.4908C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199769C>TCA475796635MYO7Ac.4803C>T (p.Leu1601=)
c.2644C>T
c.4656C>T (p.Leu1552=)
c.2232C>T (p.Leu744=)
c.4689C>T (p.Leu1563=)
n.2342C>T
c.4797C>T (p.Leu1599=)
c.4770C>T (p.Leu1590=)
c.4707C>T (p.Leu1569=)
c.4578C>T (p.Leu1526=)
c.4566C>T (p.Leu1522=)
c.4539C>T (p.Leu1513=)
n.5123C>T
n.5125C>T
c.4893C>T (p.Leu1631=)
c.4887C>T (p.Leu1629=)
c.4779C>T (p.Leu1593=)
n.4908C>T
11g.77199770C>ACA475796636MYO7Ac.4804C>A (p.Arg1602=)
c.2645C>A
c.4657C>A (p.Arg1553=)
c.2233C>A (p.Arg745=)
c.4690C>A (p.Arg1564=)
n.2343C>A
c.4798C>A (p.Arg1600=)
c.4771C>A (p.Arg1591=)
c.4708C>A (p.Arg1570=)
c.4579C>A (p.Arg1527=)
c.4567C>A (p.Arg1523=)
c.4540C>A (p.Arg1514=)
n.5124C>A
n.5126C>A
c.4894C>A (p.Arg1632=)
c.4888C>A (p.Arg1630=)
c.4780C>A (p.Arg1594=)
n.4909C>A
11g.77199770C=CA1984122901MYO7Ac.4804C= (p.Arg1602=)
c.2645C=
c.4657C= (p.Arg1553=)
c.2233C= (p.Arg745=)
c.4690C= (p.Arg1564=)
n.2343C=
c.4798C= (p.Arg1600=)
c.4771C= (p.Arg1591=)
c.4708C= (p.Arg1570=)
c.4579C= (p.Arg1527=)
c.4567C= (p.Arg1523=)
c.4540C= (p.Arg1514=)
n.5124C=
n.5126C=
c.4894C= (p.Arg1632=)
c.4888C= (p.Arg1630=)
c.4780C= (p.Arg1594=)
n.4909C=
11g.77199770C>GCA381950965MYO7Ac.4804C>G (p.Arg1602Gly)
c.2645C>G
c.4657C>G (p.Arg1553Gly)
c.2233C>G (p.Arg745Gly)
c.4690C>G (p.Arg1564Gly)
n.2343C>G
c.4798C>G (p.Arg1600Gly)
c.4771C>G (p.Arg1591Gly)
c.4708C>G (p.Arg1570Gly)
c.4579C>G (p.Arg1527Gly)
c.4567C>G (p.Arg1523Gly)
c.4540C>G (p.Arg1514Gly)
n.5124C>G
n.5126C>G
c.4894C>G (p.Arg1632Gly)
c.4888C>G (p.Arg1630Gly)
c.4780C>G (p.Arg1594Gly)
n.4909C>G
11g.77199770C>TCA6198545MYO7Ac.4804C>T (p.Arg1602Trp)
c.2645C>T
c.4657C>T (p.Arg1553Trp)
c.2233C>T (p.Arg745Trp)
c.4690C>T (p.Arg1564Trp)
n.2343C>T
c.4798C>T (p.Arg1600Trp)
c.4771C>T (p.Arg1591Trp)
c.4708C>T (p.Arg1570Trp)
c.4579C>T (p.Arg1527Trp)
c.4567C>T (p.Arg1523Trp)
c.4540C>T (p.Arg1514Trp)
n.5124C>T
n.5126C>T
c.4894C>T (p.Arg1632Trp)
c.4888C>T (p.Arg1630Trp)
c.4780C>T (p.Arg1594Trp)
n.4909C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199771G>ACA132356MYO7Ac.4805G>A (p.Arg1602Gln)
c.2646G>A
c.4658G>A (p.Arg1553Gln)
c.2234G>A (p.Arg745Gln)
c.4691G>A (p.Arg1564Gln)
n.2344G>A
c.4799G>A (p.Arg1600Gln)
c.4772G>A (p.Arg1591Gln)
c.4709G>A (p.Arg1570Gln)
c.4580G>A (p.Arg1527Gln)
c.4568G>A (p.Arg1523Gln)
c.4541G>A (p.Arg1514Gln)
n.5125G>A
n.5127G>A
c.4895G>A (p.Arg1632Gln)
c.4889G>A (p.Arg1630Gln)
c.4781G>A (p.Arg1594Gln)
n.4910G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77199771G>CCA381950966MYO7Ac.4805G>C (p.Arg1602Pro)
c.2646G>C
c.4658G>C (p.Arg1553Pro)
c.2234G>C (p.Arg745Pro)
c.4691G>C (p.Arg1564Pro)
n.2344G>C
c.4799G>C (p.Arg1600Pro)
c.4772G>C (p.Arg1591Pro)
c.4709G>C (p.Arg1570Pro)
c.4580G>C (p.Arg1527Pro)
c.4568G>C (p.Arg1523Pro)
c.4541G>C (p.Arg1514Pro)
n.5125G>C
n.5127G>C
c.4895G>C (p.Arg1632Pro)
c.4889G>C (p.Arg1630Pro)
c.4781G>C (p.Arg1594Pro)
n.4910G>C
11g.77199771G=CA1984122906MYO7Ac.4805G= (p.Arg1602=)
c.2646G=
c.4658G= (p.Arg1553=)
c.2234G= (p.Arg745=)
c.4691G= (p.Arg1564=)
n.2344G=
c.4799G= (p.Arg1600=)
c.4772G= (p.Arg1591=)
c.4709G= (p.Arg1570=)
c.4580G= (p.Arg1527=)
c.4568G= (p.Arg1523=)
c.4541G= (p.Arg1514=)
n.5125G=
n.5127G=
c.4895G= (p.Arg1632=)
c.4889G= (p.Arg1630=)
c.4781G= (p.Arg1594=)
n.4910G=
11g.77199771G>TCA381950967MYO7Ac.4805G>T (p.Arg1602Leu)
c.2646G>T
c.4658G>T (p.Arg1553Leu)
c.2234G>T (p.Arg745Leu)
c.4691G>T (p.Arg1564Leu)
n.2344G>T
c.4799G>T (p.Arg1600Leu)
c.4772G>T (p.Arg1591Leu)
c.4709G>T (p.Arg1570Leu)
c.4580G>T (p.Arg1527Leu)
c.4568G>T (p.Arg1523Leu)
c.4541G>T (p.Arg1514Leu)
n.5125G>T
n.5127G>T
c.4895G>T (p.Arg1632Leu)
c.4889G>T (p.Arg1630Leu)
c.4781G>T (p.Arg1594Leu)
n.4910G>T
11g.77199772dupCA2842617582MYO7Ac.4806dup (p.Lys1603GlufsTer4)
c.2647dup
c.4659dup (p.Lys1554GlufsTer4)
c.2235dup (p.Lys746GlufsTer4)
c.4692dup (p.Lys1565GlufsTer4)
n.2345dup
c.4800dup (p.Lys1601GlufsTer4)
c.4773dup (p.Lys1592GlufsTer4)
c.4710dup (p.Lys1571GlufsTer4)
c.4581dup (p.Lys1528GlufsTer4)
c.4569dup (p.Lys1524GlufsTer4)
c.4542dup (p.Lys1515GlufsTer4)
n.5126dup
n.5128dup
c.4896dup (p.Lys1633GlufsTer4)
c.4890dup (p.Lys1631GlufsTer4)
c.4782dup (p.Lys1595GlufsTer4)
n.4911dup

Number of alleles fetched