Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77198505C>A | CA475796367 | MYO7A | c.4452C>A (p.Leu1484=) c.2293C>A c.4419C>A (p.Leu1473=) c.1995C>A (p.Leu665=) n.2105C>A c.4560C>A (p.Leu1520=) c.4470C>A (p.Leu1490=) c.4341C>A (p.Leu1447=) c.4329C>A (p.Leu1443=) c.4302C>A (p.Leu1434=) n.4772C>A n.4774C>A c.4542C>A (p.Leu1514=) c.4650C>A (p.Leu1550=) n.4557C>A | |
11 | g.77198505C= | CA1984120965 | MYO7A | c.4452C= (p.Leu1484=) c.2293C= c.4419C= (p.Leu1473=) c.1995C= (p.Leu665=) n.2105C= c.4560C= (p.Leu1520=) c.4470C= (p.Leu1490=) c.4341C= (p.Leu1447=) c.4329C= (p.Leu1443=) c.4302C= (p.Leu1434=) n.4772C= n.4774C= c.4542C= (p.Leu1514=) c.4650C= (p.Leu1550=) n.4557C= | |
11 | g.77198505C>G | CA475796368 | MYO7A | c.4452C>G (p.Leu1484=) c.2293C>G c.4419C>G (p.Leu1473=) c.1995C>G (p.Leu665=) n.2105C>G c.4560C>G (p.Leu1520=) c.4470C>G (p.Leu1490=) c.4341C>G (p.Leu1447=) c.4329C>G (p.Leu1443=) c.4302C>G (p.Leu1434=) n.4772C>G n.4774C>G c.4542C>G (p.Leu1514=) c.4650C>G (p.Leu1550=) n.4557C>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77198505C>T | CA475796369 | MYO7A | c.4452C>T (p.Leu1484=) c.2293C>T c.4419C>T (p.Leu1473=) c.1995C>T (p.Leu665=) n.2105C>T c.4560C>T (p.Leu1520=) c.4470C>T (p.Leu1490=) c.4341C>T (p.Leu1447=) c.4329C>T (p.Leu1443=) c.4302C>T (p.Leu1434=) n.4772C>T n.4774C>T c.4542C>T (p.Leu1514=) c.4650C>T (p.Leu1550=) n.4557C>T | |
11 | g.77198506C>A | CA381950222 | MYO7A | c.4453C>A (p.Pro1485Thr) c.2294C>A c.4420C>A (p.Pro1474Thr) c.1996C>A (p.Pro666Thr) n.2106C>A c.4561C>A (p.Pro1521Thr) c.4471C>A (p.Pro1491Thr) c.4342C>A (p.Pro1448Thr) c.4330C>A (p.Pro1444Thr) c.4303C>A (p.Pro1435Thr) n.4773C>A n.4775C>A c.4543C>A (p.Pro1515Thr) c.4651C>A (p.Pro1551Thr) n.4558C>A | |
11 | g.77198506C>G | CA381950223 | MYO7A | c.4453C>G (p.Pro1485Ala) c.2294C>G c.4420C>G (p.Pro1474Ala) c.1996C>G (p.Pro666Ala) n.2106C>G c.4561C>G (p.Pro1521Ala) c.4471C>G (p.Pro1491Ala) c.4342C>G (p.Pro1448Ala) c.4330C>G (p.Pro1444Ala) c.4303C>G (p.Pro1435Ala) n.4773C>G n.4775C>G c.4543C>G (p.Pro1515Ala) c.4651C>G (p.Pro1551Ala) n.4558C>G | gnomAD v4 |
11 | g.77198506C>T | CA381950224 | MYO7A | c.4453C>T (p.Pro1485Ser) c.2294C>T c.4420C>T (p.Pro1474Ser) c.1996C>T (p.Pro666Ser) n.2106C>T c.4561C>T (p.Pro1521Ser) c.4471C>T (p.Pro1491Ser) c.4342C>T (p.Pro1448Ser) c.4330C>T (p.Pro1444Ser) c.4303C>T (p.Pro1435Ser) n.4773C>T n.4775C>T c.4543C>T (p.Pro1515Ser) c.4651C>T (p.Pro1551Ser) n.4558C>T | |
11 | g.77198507C>A | CA381950227 | MYO7A | c.4454C>A (p.Pro1485His) c.2295C>A c.4421C>A (p.Pro1474His) c.1997C>A (p.Pro666His) n.2107C>A c.4562C>A (p.Pro1521His) c.4472C>A (p.Pro1491His) c.4343C>A (p.Pro1448His) c.4331C>A (p.Pro1444His) c.4304C>A (p.Pro1435His) n.4774C>A n.4776C>A c.4544C>A (p.Pro1515His) c.4652C>A (p.Pro1551His) n.4559C>A | |
11 | g.77198507C>G | CA381950225 | MYO7A | c.4454C>G (p.Pro1485Arg) c.2295C>G c.4421C>G (p.Pro1474Arg) c.1997C>G (p.Pro666Arg) n.2107C>G c.4562C>G (p.Pro1521Arg) c.4472C>G (p.Pro1491Arg) c.4343C>G (p.Pro1448Arg) c.4331C>G (p.Pro1444Arg) c.4304C>G (p.Pro1435Arg) n.4774C>G n.4776C>G c.4544C>G (p.Pro1515Arg) c.4652C>G (p.Pro1551Arg) n.4559C>G | |
11 | g.77198507C>T | CA381950226 | MYO7A | c.4454C>T (p.Pro1485Leu) c.2295C>T c.4421C>T (p.Pro1474Leu) c.1997C>T (p.Pro666Leu) n.2107C>T c.4562C>T (p.Pro1521Leu) c.4472C>T (p.Pro1491Leu) c.4343C>T (p.Pro1448Leu) c.4331C>T (p.Pro1444Leu) c.4304C>T (p.Pro1435Leu) n.4774C>T n.4776C>T c.4544C>T (p.Pro1515Leu) c.4652C>T (p.Pro1551Leu) n.4559C>T | |
11 | g.77198508C>A | CA475796372 | MYO7A | c.4455C>A (p.Pro1485=) c.2296C>A c.4422C>A (p.Pro1474=) c.1998C>A (p.Pro666=) n.2108C>A c.4563C>A (p.Pro1521=) c.4473C>A (p.Pro1491=) c.4344C>A (p.Pro1448=) c.4332C>A (p.Pro1444=) c.4305C>A (p.Pro1435=) n.4775C>A n.4777C>A c.4545C>A (p.Pro1515=) c.4653C>A (p.Pro1551=) n.4560C>A | |
11 | g.77198508C>G | CA475796371 | MYO7A | c.4455C>G (p.Pro1485=) c.2296C>G c.4422C>G (p.Pro1474=) c.1998C>G (p.Pro666=) n.2108C>G c.4563C>G (p.Pro1521=) c.4473C>G (p.Pro1491=) c.4344C>G (p.Pro1448=) c.4332C>G (p.Pro1444=) c.4305C>G (p.Pro1435=) n.4775C>G n.4777C>G c.4545C>G (p.Pro1515=) c.4653C>G (p.Pro1551=) n.4560C>G | |
11 | g.77198508C>T | CA475796370 | MYO7A | c.4455C>T (p.Pro1485=) c.2296C>T c.4422C>T (p.Pro1474=) c.1998C>T (p.Pro666=) n.2108C>T c.4563C>T (p.Pro1521=) c.4473C>T (p.Pro1491=) c.4344C>T (p.Pro1448=) c.4332C>T (p.Pro1444=) c.4305C>T (p.Pro1435=) n.4775C>T n.4777C>T c.4545C>T (p.Pro1515=) c.4653C>T (p.Pro1551=) n.4560C>T | |
11 | g.77198509A>C | CA381950228 | MYO7A | c.4456A>C (p.Lys1486Gln) c.2297A>C c.4423A>C (p.Lys1475Gln) c.1999A>C (p.Lys667Gln) n.2109A>C c.4564A>C (p.Lys1522Gln) c.4474A>C (p.Lys1492Gln) c.4345A>C (p.Lys1449Gln) c.4333A>C (p.Lys1445Gln) c.4306A>C (p.Lys1436Gln) n.4776A>C n.4778A>C c.4546A>C (p.Lys1516Gln) c.4654A>C (p.Lys1552Gln) n.4561A>C | |
11 | g.77198509A>G | CA381950229 | MYO7A | c.4456A>G (p.Lys1486Glu) c.2297A>G c.4423A>G (p.Lys1475Glu) c.1999A>G (p.Lys667Glu) n.2109A>G c.4564A>G (p.Lys1522Glu) c.4474A>G (p.Lys1492Glu) c.4345A>G (p.Lys1449Glu) c.4333A>G (p.Lys1445Glu) c.4306A>G (p.Lys1436Glu) n.4776A>G n.4778A>G c.4546A>G (p.Lys1516Glu) c.4654A>G (p.Lys1552Glu) n.4561A>G | gnomAD v4 |
11 | g.77198509A>T | CA381950230 | MYO7A | c.4456A>T (p.Lys1486Ter) c.2297A>T c.4423A>T (p.Lys1475Ter) c.1999A>T (p.Lys667Ter) n.2109A>T c.4564A>T (p.Lys1522Ter) c.4474A>T (p.Lys1492Ter) c.4345A>T (p.Lys1449Ter) c.4333A>T (p.Lys1445Ter) c.4306A>T (p.Lys1436Ter) n.4776A>T n.4778A>T c.4546A>T (p.Lys1516Ter) c.4654A>T (p.Lys1552Ter) n.4561A>T | |
11 | g.77198510A= | CA1984120969 | MYO7A | c.4457A= (p.Lys1486=) c.2298A= c.4424A= (p.Lys1475=) c.2000A= (p.Lys667=) n.2110A= c.4565A= (p.Lys1522=) c.4475A= (p.Lys1492=) c.4346A= (p.Lys1449=) c.4334A= (p.Lys1445=) c.4307A= (p.Lys1436=) n.4777A= n.4779A= c.4547A= (p.Lys1516=) c.4655A= (p.Lys1552=) n.4562A= | |
11 | g.77198510A>C | CA381950231 | MYO7A | c.4457A>C (p.Lys1486Thr) c.2298A>C c.4424A>C (p.Lys1475Thr) c.2000A>C (p.Lys667Thr) n.2110A>C c.4565A>C (p.Lys1522Thr) c.4475A>C (p.Lys1492Thr) c.4346A>C (p.Lys1449Thr) c.4334A>C (p.Lys1445Thr) c.4307A>C (p.Lys1436Thr) n.4777A>C n.4779A>C c.4547A>C (p.Lys1516Thr) c.4655A>C (p.Lys1552Thr) n.4562A>C | |
11 | g.77198510A>G | CA381950232 | MYO7A | c.4457A>G (p.Lys1486Arg) c.2298A>G c.4424A>G (p.Lys1475Arg) c.2000A>G (p.Lys667Arg) n.2110A>G c.4565A>G (p.Lys1522Arg) c.4475A>G (p.Lys1492Arg) c.4346A>G (p.Lys1449Arg) c.4334A>G (p.Lys1445Arg) c.4307A>G (p.Lys1436Arg) n.4777A>G n.4779A>G c.4547A>G (p.Lys1516Arg) c.4655A>G (p.Lys1552Arg) n.4562A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77198510A>T | CA381950233 | MYO7A | c.4457A>T (p.Lys1486Met) c.2298A>T c.4424A>T (p.Lys1475Met) c.2000A>T (p.Lys667Met) n.2110A>T c.4565A>T (p.Lys1522Met) c.4475A>T (p.Lys1492Met) c.4346A>T (p.Lys1449Met) c.4334A>T (p.Lys1445Met) c.4307A>T (p.Lys1436Met) n.4777A>T n.4779A>T c.4547A>T (p.Lys1516Met) c.4655A>T (p.Lys1552Met) n.4562A>T | |
11 | g.77198511G>A | CA475796373 | MYO7A | c.4458G>A (p.Lys1486=) c.2299G>A c.4425G>A (p.Lys1475=) c.2001G>A (p.Lys667=) n.2111G>A c.4566G>A (p.Lys1522=) c.4476G>A (p.Lys1492=) c.4347G>A (p.Lys1449=) c.4335G>A (p.Lys1445=) c.4308G>A (p.Lys1436=) n.4778G>A n.4780G>A c.4548G>A (p.Lys1516=) c.4656G>A (p.Lys1552=) n.4563G>A | gnomAD v4 |
11 | g.77198511G>C | CA381950234 | MYO7A | c.4458G>C (p.Lys1486Asn) c.2299G>C c.4425G>C (p.Lys1475Asn) c.2001G>C (p.Lys667Asn) n.2111G>C c.4566G>C (p.Lys1522Asn) c.4476G>C (p.Lys1492Asn) c.4347G>C (p.Lys1449Asn) c.4335G>C (p.Lys1445Asn) c.4308G>C (p.Lys1436Asn) n.4778G>C n.4780G>C c.4548G>C (p.Lys1516Asn) c.4656G>C (p.Lys1552Asn) n.4563G>C | |
11 | g.77198511G>T | CA381950235 | MYO7A | c.4458G>T (p.Lys1486Asn) c.2299G>T c.4425G>T (p.Lys1475Asn) c.2001G>T (p.Lys667Asn) n.2111G>T c.4566G>T (p.Lys1522Asn) c.4476G>T (p.Lys1492Asn) c.4347G>T (p.Lys1449Asn) c.4335G>T (p.Lys1445Asn) c.4308G>T (p.Lys1436Asn) n.4778G>T n.4780G>T c.4548G>T (p.Lys1516Asn) c.4656G>T (p.Lys1552Asn) n.4563G>T | |
11 | g.77198512A>C | CA381950236 | MYO7A | c.4459A>C (p.Asn1487His) c.2300A>C c.4426A>C (p.Asn1476His) c.2002A>C (p.Asn668His) n.2112A>C c.4567A>C (p.Asn1523His) c.4477A>C (p.Asn1493His) c.4348A>C (p.Asn1450His) c.4336A>C (p.Asn1446His) c.4309A>C (p.Asn1437His) n.4779A>C n.4781A>C c.4549A>C (p.Asn1517His) c.4657A>C (p.Asn1553His) n.4564A>C | |
11 | g.77198512A>G | CA381950237 | MYO7A | c.4459A>G (p.Asn1487Asp) c.2300A>G c.4426A>G (p.Asn1476Asp) c.2002A>G (p.Asn668Asp) n.2112A>G c.4567A>G (p.Asn1523Asp) c.4477A>G (p.Asn1493Asp) c.4348A>G (p.Asn1450Asp) c.4336A>G (p.Asn1446Asp) c.4309A>G (p.Asn1437Asp) n.4779A>G n.4781A>G c.4549A>G (p.Asn1517Asp) c.4657A>G (p.Asn1553Asp) n.4564A>G | gnomAD v4 |
11 | g.77198512A>T | CA381950238 | MYO7A | c.4459A>T (p.Asn1487Tyr) c.2300A>T c.4426A>T (p.Asn1476Tyr) c.2002A>T (p.Asn668Tyr) n.2112A>T c.4567A>T (p.Asn1523Tyr) c.4477A>T (p.Asn1493Tyr) c.4348A>T (p.Asn1450Tyr) c.4336A>T (p.Asn1446Tyr) c.4309A>T (p.Asn1437Tyr) n.4779A>T n.4781A>T c.4549A>T (p.Asn1517Tyr) c.4657A>T (p.Asn1553Tyr) n.4564A>T | |
11 | g.77198513A>C | CA381950240 | MYO7A | c.4460A>C (p.Asn1487Thr) c.2301A>C c.4427A>C (p.Asn1476Thr) c.2003A>C (p.Asn668Thr) n.2113A>C c.4568A>C (p.Asn1523Thr) c.4478A>C (p.Asn1493Thr) c.4349A>C (p.Asn1450Thr) c.4337A>C (p.Asn1446Thr) c.4310A>C (p.Asn1437Thr) n.4780A>C n.4782A>C c.4550A>C (p.Asn1517Thr) c.4658A>C (p.Asn1553Thr) n.4565A>C | |
11 | g.77198513A>G | CA381950241 | MYO7A | c.4460A>G (p.Asn1487Ser) c.2301A>G c.4427A>G (p.Asn1476Ser) c.2003A>G (p.Asn668Ser) n.2113A>G c.4568A>G (p.Asn1523Ser) c.4478A>G (p.Asn1493Ser) c.4349A>G (p.Asn1450Ser) c.4337A>G (p.Asn1446Ser) c.4310A>G (p.Asn1437Ser) n.4780A>G n.4782A>G c.4550A>G (p.Asn1517Ser) c.4658A>G (p.Asn1553Ser) n.4565A>G | |
11 | g.77198513A>T | CA381950239 | MYO7A | c.4460A>T (p.Asn1487Ile) c.2301A>T c.4427A>T (p.Asn1476Ile) c.2003A>T (p.Asn668Ile) n.2113A>T c.4568A>T (p.Asn1523Ile) c.4478A>T (p.Asn1493Ile) c.4349A>T (p.Asn1450Ile) c.4337A>T (p.Asn1446Ile) c.4310A>T (p.Asn1437Ile) n.4780A>T n.4782A>T c.4550A>T (p.Asn1517Ile) c.4658A>T (p.Asn1553Ile) n.4565A>T | |
11 | g.77198514C>A | CA381950242 | MYO7A | c.4461C>A (p.Asn1487Lys) c.2302C>A c.4428C>A (p.Asn1476Lys) c.2004C>A (p.Asn668Lys) n.2114C>A c.4569C>A (p.Asn1523Lys) c.4479C>A (p.Asn1493Lys) c.4350C>A (p.Asn1450Lys) c.4338C>A (p.Asn1446Lys) c.4311C>A (p.Asn1437Lys) n.4781C>A n.4783C>A c.4551C>A (p.Asn1517Lys) c.4659C>A (p.Asn1553Lys) n.4566C>A | |
11 | g.77198514C= | CA1984120978 | MYO7A | c.4461C= (p.Asn1487=) c.2302C= c.4428C= (p.Asn1476=) c.2004C= (p.Asn668=) n.2114C= c.4569C= (p.Asn1523=) c.4479C= (p.Asn1493=) c.4350C= (p.Asn1450=) c.4338C= (p.Asn1446=) c.4311C= (p.Asn1437=) n.4781C= n.4783C= c.4551C= (p.Asn1517=) c.4659C= (p.Asn1553=) n.4566C= | |
11 | g.77198514C>G | CA381950243 | MYO7A | c.4461C>G (p.Asn1487Lys) c.2302C>G c.4428C>G (p.Asn1476Lys) c.2004C>G (p.Asn668Lys) n.2114C>G c.4569C>G (p.Asn1523Lys) c.4479C>G (p.Asn1493Lys) c.4350C>G (p.Asn1450Lys) c.4338C>G (p.Asn1446Lys) c.4311C>G (p.Asn1437Lys) n.4781C>G n.4783C>G c.4551C>G (p.Asn1517Lys) c.4659C>G (p.Asn1553Lys) n.4566C>G | |
11 | g.77198514C>T | CA132326 | MYO7A | c.4461C>T (p.Asn1487=) c.2302C>T c.4428C>T (p.Asn1476=) c.2004C>T (p.Asn668=) n.2114C>T c.4569C>T (p.Asn1523=) c.4479C>T (p.Asn1493=) c.4350C>T (p.Asn1450=) c.4338C>T (p.Asn1446=) c.4311C>T (p.Asn1437=) n.4781C>T n.4783C>T c.4551C>T (p.Asn1517=) c.4659C>T (p.Asn1553=) n.4566C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198515G>A | CA6198456 | MYO7A | c.4462G>A (p.Asp1488Asn) c.2303G>A c.4429G>A (p.Asp1477Asn) c.2005G>A (p.Asp669Asn) n.2115G>A c.4570G>A (p.Asp1524Asn) c.4480G>A (p.Asp1494Asn) c.4351G>A (p.Asp1451Asn) c.4339G>A (p.Asp1447Asn) c.4312G>A (p.Asp1438Asn) n.4782G>A n.4784G>A c.4552G>A (p.Asp1518Asn) c.4660G>A (p.Asp1554Asn) n.4567G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198515G>C | CA6198455 | MYO7A | c.4462G>C (p.Asp1488His) c.2303G>C c.4429G>C (p.Asp1477His) c.2005G>C (p.Asp669His) n.2115G>C c.4570G>C (p.Asp1524His) c.4480G>C (p.Asp1494His) c.4351G>C (p.Asp1451His) c.4339G>C (p.Asp1447His) c.4312G>C (p.Asp1438His) n.4782G>C n.4784G>C c.4552G>C (p.Asp1518His) c.4660G>C (p.Asp1554His) n.4567G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77198515G= | CA1984120983 | MYO7A | c.4462G= (p.Asp1488=) c.2303G= c.4429G= (p.Asp1477=) c.2005G= (p.Asp669=) n.2115G= c.4570G= (p.Asp1524=) c.4480G= (p.Asp1494=) c.4351G= (p.Asp1451=) c.4339G= (p.Asp1447=) c.4312G= (p.Asp1438=) n.4782G= n.4784G= c.4552G= (p.Asp1518=) c.4660G= (p.Asp1554=) n.4567G= | |
11 | g.77198515G>T | CA381950244 | MYO7A | c.4462G>T (p.Asp1488Tyr) c.2303G>T c.4429G>T (p.Asp1477Tyr) c.2005G>T (p.Asp669Tyr) n.2115G>T c.4570G>T (p.Asp1524Tyr) c.4480G>T (p.Asp1494Tyr) c.4351G>T (p.Asp1451Tyr) c.4339G>T (p.Asp1447Tyr) c.4312G>T (p.Asp1438Tyr) n.4782G>T n.4784G>T c.4552G>T (p.Asp1518Tyr) c.4660G>T (p.Asp1554Tyr) n.4567G>T | |
11 | g.77198516A>C | CA381950245 | MYO7A | c.4463A>C (p.Asp1488Ala) c.2304A>C c.4430A>C (p.Asp1477Ala) c.2006A>C (p.Asp669Ala) n.2116A>C c.4571A>C (p.Asp1524Ala) c.4481A>C (p.Asp1494Ala) c.4352A>C (p.Asp1451Ala) c.4340A>C (p.Asp1447Ala) c.4313A>C (p.Asp1438Ala) n.4783A>C n.4785A>C c.4553A>C (p.Asp1518Ala) c.4661A>C (p.Asp1554Ala) n.4568A>C | |
11 | g.77198516A>G | CA381950246 | MYO7A | c.4463A>G (p.Asp1488Gly) c.2304A>G c.4430A>G (p.Asp1477Gly) c.2006A>G (p.Asp669Gly) n.2116A>G c.4571A>G (p.Asp1524Gly) c.4481A>G (p.Asp1494Gly) c.4352A>G (p.Asp1451Gly) c.4340A>G (p.Asp1447Gly) c.4313A>G (p.Asp1438Gly) n.4783A>G n.4785A>G c.4553A>G (p.Asp1518Gly) c.4661A>G (p.Asp1554Gly) n.4568A>G | |
11 | g.77198516A>T | CA381950247 | MYO7A | c.4463A>T (p.Asp1488Val) c.2304A>T c.4430A>T (p.Asp1477Val) c.2006A>T (p.Asp669Val) n.2116A>T c.4571A>T (p.Asp1524Val) c.4481A>T (p.Asp1494Val) c.4352A>T (p.Asp1451Val) c.4340A>T (p.Asp1447Val) c.4313A>T (p.Asp1438Val) n.4783A>T n.4785A>T c.4553A>T (p.Asp1518Val) c.4661A>T (p.Asp1554Val) n.4568A>T | |
11 | g.77198517C>A | CA381950248 | MYO7A | c.4464C>A (p.Asp1488Glu) c.2305C>A c.4431C>A (p.Asp1477Glu) c.2007C>A (p.Asp669Glu) n.2117C>A c.4572C>A (p.Asp1524Glu) c.4482C>A (p.Asp1494Glu) c.4353C>A (p.Asp1451Glu) c.4341C>A (p.Asp1447Glu) c.4314C>A (p.Asp1438Glu) n.4784C>A n.4786C>A c.4554C>A (p.Asp1518Glu) c.4662C>A (p.Asp1554Glu) n.4569C>A | |
11 | g.77198517C= | CA1984120984 | MYO7A | c.4464C= (p.Asp1488=) c.2305C= c.4431C= (p.Asp1477=) c.2007C= (p.Asp669=) n.2117C= c.4572C= (p.Asp1524=) c.4482C= (p.Asp1494=) c.4353C= (p.Asp1451=) c.4341C= (p.Asp1447=) c.4314C= (p.Asp1438=) n.4784C= n.4786C= c.4554C= (p.Asp1518=) c.4662C= (p.Asp1554=) n.4569C= | |
11 | g.77198517C>G | CA381950249 | MYO7A | c.4464C>G (p.Asp1488Glu) c.2305C>G c.4431C>G (p.Asp1477Glu) c.2007C>G (p.Asp669Glu) n.2117C>G c.4572C>G (p.Asp1524Glu) c.4482C>G (p.Asp1494Glu) c.4353C>G (p.Asp1451Glu) c.4341C>G (p.Asp1447Glu) c.4314C>G (p.Asp1438Glu) n.4784C>G n.4786C>G c.4554C>G (p.Asp1518Glu) c.4662C>G (p.Asp1554Glu) n.4569C>G | |
11 | g.77198517C>T | CA224848754 | MYO7A | c.4464C>T (p.Asp1488=) c.2305C>T c.4431C>T (p.Asp1477=) c.2007C>T (p.Asp669=) n.2117C>T c.4572C>T (p.Asp1524=) c.4482C>T (p.Asp1494=) c.4353C>T (p.Asp1451=) c.4341C>T (p.Asp1447=) c.4314C>T (p.Asp1438=) n.4784C>T n.4786C>T c.4554C>T (p.Asp1518=) c.4662C>T (p.Asp1554=) n.4569C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198518G>A | CA381950251 | MYO7A | c.4465G>A (p.Val1489Ile) c.2306G>A c.4432G>A (p.Val1478Ile) c.2008G>A (p.Val670Ile) n.2118G>A c.4573G>A (p.Val1525Ile) c.4483G>A (p.Val1495Ile) c.4354G>A (p.Val1452Ile) c.4342G>A (p.Val1448Ile) c.4315G>A (p.Val1439Ile) n.4785G>A n.4787G>A c.4555G>A (p.Val1519Ile) c.4663G>A (p.Val1555Ile) n.4570G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.77198518G>C | CA381950252 | MYO7A | c.4465G>C (p.Val1489Leu) c.2306G>C c.4432G>C (p.Val1478Leu) c.2008G>C (p.Val670Leu) n.2118G>C c.4573G>C (p.Val1525Leu) c.4483G>C (p.Val1495Leu) c.4354G>C (p.Val1452Leu) c.4342G>C (p.Val1448Leu) c.4315G>C (p.Val1439Leu) n.4785G>C n.4787G>C c.4555G>C (p.Val1519Leu) c.4663G>C (p.Val1555Leu) n.4570G>C | |
11 | g.77198518G= | CA1984120988 | MYO7A | c.4465G= (p.Val1489=) c.2306G= c.4432G= (p.Val1478=) c.2008G= (p.Val670=) n.2118G= c.4573G= (p.Val1525=) c.4483G= (p.Val1495=) c.4354G= (p.Val1452=) c.4342G= (p.Val1448=) c.4315G= (p.Val1439=) n.4785G= n.4787G= c.4555G= (p.Val1519=) c.4663G= (p.Val1555=) n.4570G= | |
11 | g.77198518G>T | CA381950250 | MYO7A | c.4465G>T (p.Val1489Phe) c.2306G>T c.4432G>T (p.Val1478Phe) c.2008G>T (p.Val670Phe) n.2118G>T c.4573G>T (p.Val1525Phe) c.4483G>T (p.Val1495Phe) c.4354G>T (p.Val1452Phe) c.4342G>T (p.Val1448Phe) c.4315G>T (p.Val1439Phe) n.4785G>T n.4787G>T c.4555G>T (p.Val1519Phe) c.4663G>T (p.Val1555Phe) n.4570G>T | |
11 | g.77198519T>A | CA381950253 | MYO7A | c.4466T>A (p.Val1489Asp) c.2307T>A c.4433T>A (p.Val1478Asp) c.2009T>A (p.Val670Asp) n.2119T>A c.4574T>A (p.Val1525Asp) c.4484T>A (p.Val1495Asp) c.4355T>A (p.Val1452Asp) c.4343T>A (p.Val1448Asp) c.4316T>A (p.Val1439Asp) n.4786T>A n.4788T>A c.4556T>A (p.Val1519Asp) c.4664T>A (p.Val1555Asp) n.4571T>A | |
11 | g.77198519T>C | CA6198457 | MYO7A | c.4466T>C (p.Val1489Ala) c.2307T>C c.4433T>C (p.Val1478Ala) c.2009T>C (p.Val670Ala) n.2119T>C c.4574T>C (p.Val1525Ala) c.4484T>C (p.Val1495Ala) c.4355T>C (p.Val1452Ala) c.4343T>C (p.Val1448Ala) c.4316T>C (p.Val1439Ala) n.4786T>C n.4788T>C c.4556T>C (p.Val1519Ala) c.4664T>C (p.Val1555Ala) n.4571T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77198519T>G | CA381950254 | MYO7A | c.4466T>G (p.Val1489Gly) c.2307T>G c.4433T>G (p.Val1478Gly) c.2009T>G (p.Val670Gly) n.2119T>G c.4574T>G (p.Val1525Gly) c.4484T>G (p.Val1495Gly) c.4355T>G (p.Val1452Gly) c.4343T>G (p.Val1448Gly) c.4316T>G (p.Val1439Gly) n.4786T>G n.4788T>G c.4556T>G (p.Val1519Gly) c.4664T>G (p.Val1555Gly) n.4571T>G | |
11 | g.77198519T= | CA1984120993 | MYO7A | c.4466T= (p.Val1489=) c.2307T= c.4433T= (p.Val1478=) c.2009T= (p.Val670=) n.2119T= c.4574T= (p.Val1525=) c.4484T= (p.Val1495=) c.4355T= (p.Val1452=) c.4343T= (p.Val1448=) c.4316T= (p.Val1439=) n.4786T= n.4788T= c.4556T= (p.Val1519=) c.4664T= (p.Val1555=) n.4571T= | |
11 | g.77198520C>A | CA475796374 | MYO7A | c.4467C>A (p.Val1489=) c.2308C>A c.4434C>A (p.Val1478=) c.2010C>A (p.Val670=) n.2120C>A c.4575C>A (p.Val1525=) c.4485C>A (p.Val1495=) c.4356C>A (p.Val1452=) c.4344C>A (p.Val1448=) c.4317C>A (p.Val1439=) n.4787C>A n.4789C>A c.4557C>A (p.Val1519=) c.4665C>A (p.Val1555=) n.4572C>A | |
11 | g.77198520C>G | CA475796376 | MYO7A | c.4467C>G (p.Val1489=) c.2308C>G c.4434C>G (p.Val1478=) c.2010C>G (p.Val670=) n.2120C>G c.4575C>G (p.Val1525=) c.4485C>G (p.Val1495=) c.4356C>G (p.Val1452=) c.4344C>G (p.Val1448=) c.4317C>G (p.Val1439=) n.4787C>G n.4789C>G c.4557C>G (p.Val1519=) c.4665C>G (p.Val1555=) n.4572C>G | |
11 | g.77198520C>T | CA475796375 | MYO7A | c.4467C>T (p.Val1489=) c.2308C>T c.4434C>T (p.Val1478=) c.2010C>T (p.Val670=) n.2120C>T c.4575C>T (p.Val1525=) c.4485C>T (p.Val1495=) c.4356C>T (p.Val1452=) c.4344C>T (p.Val1448=) c.4317C>T (p.Val1439=) n.4787C>T n.4789C>T c.4557C>T (p.Val1519=) c.4665C>T (p.Val1555=) n.4572C>T | |
11 | g.77198521A= | CA1984120998 | MYO7A | c.4468A= (p.Ile1490=) c.2309A= c.4435A= (p.Ile1479=) c.2011A= (p.Ile671=) n.2121A= c.4576A= (p.Ile1526=) c.4486A= (p.Ile1496=) c.4357A= (p.Ile1453=) c.4345A= (p.Ile1449=) c.4318A= (p.Ile1440=) n.4788A= n.4790A= c.4558A= (p.Ile1520=) c.4666A= (p.Ile1556=) n.4573A= | |
11 | g.77198521A>C | CA381950255 | MYO7A | c.4468A>C (p.Ile1490Leu) c.2309A>C c.4435A>C (p.Ile1479Leu) c.2011A>C (p.Ile671Leu) n.2121A>C c.4576A>C (p.Ile1526Leu) c.4486A>C (p.Ile1496Leu) c.4357A>C (p.Ile1453Leu) c.4345A>C (p.Ile1449Leu) c.4318A>C (p.Ile1440Leu) n.4788A>C n.4790A>C c.4558A>C (p.Ile1520Leu) c.4666A>C (p.Ile1556Leu) n.4573A>C | |
11 | g.77198521A>G | CA381950256 | MYO7A | c.4468A>G (p.Ile1490Val) c.2309A>G c.4435A>G (p.Ile1479Val) c.2011A>G (p.Ile671Val) n.2121A>G c.4576A>G (p.Ile1526Val) c.4486A>G (p.Ile1496Val) c.4357A>G (p.Ile1453Val) c.4345A>G (p.Ile1449Val) c.4318A>G (p.Ile1440Val) n.4788A>G n.4790A>G c.4558A>G (p.Ile1520Val) c.4666A>G (p.Ile1556Val) n.4573A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198521A>T | CA381950257 | MYO7A | c.4468A>T (p.Ile1490Phe) c.2309A>T c.4435A>T (p.Ile1479Phe) c.2011A>T (p.Ile671Phe) n.2121A>T c.4576A>T (p.Ile1526Phe) c.4486A>T (p.Ile1496Phe) c.4357A>T (p.Ile1453Phe) c.4345A>T (p.Ile1449Phe) c.4318A>T (p.Ile1440Phe) n.4788A>T n.4790A>T c.4558A>T (p.Ile1520Phe) c.4666A>T (p.Ile1556Phe) n.4573A>T | gnomAD v4 |
11 | g.77198522T>A | CA381950258 | MYO7A | c.4469T>A (p.Ile1490Asn) c.2310T>A c.4436T>A (p.Ile1479Asn) c.2012T>A (p.Ile671Asn) n.2122T>A c.4577T>A (p.Ile1526Asn) c.4487T>A (p.Ile1496Asn) c.4358T>A (p.Ile1453Asn) c.4346T>A (p.Ile1449Asn) c.4319T>A (p.Ile1440Asn) n.4789T>A n.4791T>A c.4559T>A (p.Ile1520Asn) c.4667T>A (p.Ile1556Asn) n.4574T>A | |
11 | g.77198522T>C | CA381950260 | MYO7A | c.4469T>C (p.Ile1490Thr) c.2310T>C c.4436T>C (p.Ile1479Thr) c.2012T>C (p.Ile671Thr) n.2122T>C c.4577T>C (p.Ile1526Thr) c.4487T>C (p.Ile1496Thr) c.4358T>C (p.Ile1453Thr) c.4346T>C (p.Ile1449Thr) c.4319T>C (p.Ile1440Thr) n.4789T>C n.4791T>C c.4559T>C (p.Ile1520Thr) c.4667T>C (p.Ile1556Thr) n.4574T>C | gnomAD v4 |
11 | g.77198522T>G | CA381950259 | MYO7A | c.4469T>G (p.Ile1490Ser) c.2310T>G c.4436T>G (p.Ile1479Ser) c.2012T>G (p.Ile671Ser) n.2122T>G c.4577T>G (p.Ile1526Ser) c.4487T>G (p.Ile1496Ser) c.4358T>G (p.Ile1453Ser) c.4346T>G (p.Ile1449Ser) c.4319T>G (p.Ile1440Ser) n.4789T>G n.4791T>G c.4559T>G (p.Ile1520Ser) c.4667T>G (p.Ile1556Ser) n.4574T>G | |
11 | g.77198523C>A | CA475796377 | MYO7A | c.4470C>A (p.Ile1490=) c.2311C>A c.4437C>A (p.Ile1479=) c.2013C>A (p.Ile671=) n.2123C>A c.4578C>A (p.Ile1526=) c.4488C>A (p.Ile1496=) c.4359C>A (p.Ile1453=) c.4347C>A (p.Ile1449=) c.4320C>A (p.Ile1440=) n.4790C>A n.4792C>A c.4560C>A (p.Ile1520=) c.4668C>A (p.Ile1556=) n.4575C>A | |
11 | g.77198523C= | CA1984121008 | MYO7A | c.4470C= (p.Ile1490=) c.2311C= c.4437C= (p.Ile1479=) c.2013C= (p.Ile671=) n.2123C= c.4578C= (p.Ile1526=) c.4488C= (p.Ile1496=) c.4359C= (p.Ile1453=) c.4347C= (p.Ile1449=) c.4320C= (p.Ile1440=) n.4790C= n.4792C= c.4560C= (p.Ile1520=) c.4668C= (p.Ile1556=) n.4575C= | |
11 | g.77198523C>G | CA224848760 | MYO7A | c.4470C>G (p.Ile1490Met) c.2311C>G c.4437C>G (p.Ile1479Met) c.2013C>G (p.Ile671Met) n.2123C>G c.4578C>G (p.Ile1526Met) c.4488C>G (p.Ile1496Met) c.4359C>G (p.Ile1453Met) c.4347C>G (p.Ile1449Met) c.4320C>G (p.Ile1440Met) n.4790C>G n.4792C>G c.4560C>G (p.Ile1520Met) c.4668C>G (p.Ile1556Met) n.4575C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198523C>T | CA224848763 | MYO7A | c.4470C>T (p.Ile1490=) c.2311C>T c.4437C>T (p.Ile1479=) c.2013C>T (p.Ile671=) n.2123C>T c.4578C>T (p.Ile1526=) c.4488C>T (p.Ile1496=) c.4359C>T (p.Ile1453=) c.4347C>T (p.Ile1449=) c.4320C>T (p.Ile1440=) n.4790C>T n.4792C>T c.4560C>T (p.Ile1520=) c.4668C>T (p.Ile1556=) n.4575C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.77198524G>A | CA132328 | MYO7A | c.4471G>A (p.Val1491Met) c.2312G>A c.4438G>A (p.Val1480Met) c.2014G>A (p.Val672Met) n.2124G>A c.4579G>A (p.Val1527Met) c.4489G>A (p.Val1497Met) c.4360G>A (p.Val1454Met) c.4348G>A (p.Val1450Met) c.4321G>A (p.Val1441Met) n.4791G>A n.4793G>A c.4561G>A (p.Val1521Met) c.4669G>A (p.Val1557Met) n.4576G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198524G>C | CA381950261 | MYO7A | c.4471G>C (p.Val1491Leu) c.2312G>C c.4438G>C (p.Val1480Leu) c.2014G>C (p.Val672Leu) n.2124G>C c.4579G>C (p.Val1527Leu) c.4489G>C (p.Val1497Leu) c.4360G>C (p.Val1454Leu) c.4348G>C (p.Val1450Leu) c.4321G>C (p.Val1441Leu) n.4791G>C n.4793G>C c.4561G>C (p.Val1521Leu) c.4669G>C (p.Val1557Leu) n.4576G>C | |
11 | g.77198524G= | CA1984121024 | MYO7A | c.4471G= (p.Val1491=) c.2312G= c.4438G= (p.Val1480=) c.2014G= (p.Val672=) n.2124G= c.4579G= (p.Val1527=) c.4489G= (p.Val1497=) c.4360G= (p.Val1454=) c.4348G= (p.Val1450=) c.4321G= (p.Val1441=) n.4791G= n.4793G= c.4561G= (p.Val1521=) c.4669G= (p.Val1557=) n.4576G= | |
11 | g.77198524G>T | CA381950262 | MYO7A | c.4471G>T (p.Val1491Leu) c.2312G>T c.4438G>T (p.Val1480Leu) c.2014G>T (p.Val672Leu) n.2124G>T c.4579G>T (p.Val1527Leu) c.4489G>T (p.Val1497Leu) c.4360G>T (p.Val1454Leu) c.4348G>T (p.Val1450Leu) c.4321G>T (p.Val1441Leu) n.4791G>T n.4793G>T c.4561G>T (p.Val1521Leu) c.4669G>T (p.Val1557Leu) n.4576G>T | |
11 | g.77198525T>A | CA381950265 | MYO7A | c.4472T>A (p.Val1491Glu) c.2313T>A c.4439T>A (p.Val1480Glu) c.2015T>A (p.Val672Glu) n.2125T>A c.4580T>A (p.Val1527Glu) c.4490T>A (p.Val1497Glu) c.4361T>A (p.Val1454Glu) c.4349T>A (p.Val1450Glu) c.4322T>A (p.Val1441Glu) n.4792T>A n.4794T>A c.4562T>A (p.Val1521Glu) c.4670T>A (p.Val1557Glu) n.4577T>A | |
11 | g.77198525T>C | CA381950264 | MYO7A | c.4472T>C (p.Val1491Ala) c.2313T>C c.4439T>C (p.Val1480Ala) c.2015T>C (p.Val672Ala) n.2125T>C c.4580T>C (p.Val1527Ala) c.4490T>C (p.Val1497Ala) c.4361T>C (p.Val1454Ala) c.4349T>C (p.Val1450Ala) c.4322T>C (p.Val1441Ala) n.4792T>C n.4794T>C c.4562T>C (p.Val1521Ala) c.4670T>C (p.Val1557Ala) n.4577T>C | |
11 | g.77198525T>G | CA381950263 | MYO7A | c.4472T>G (p.Val1491Gly) c.2313T>G c.4439T>G (p.Val1480Gly) c.2015T>G (p.Val672Gly) n.2125T>G c.4580T>G (p.Val1527Gly) c.4490T>G (p.Val1497Gly) c.4361T>G (p.Val1454Gly) c.4349T>G (p.Val1450Gly) c.4322T>G (p.Val1441Gly) n.4792T>G n.4794T>G c.4562T>G (p.Val1521Gly) c.4670T>G (p.Val1557Gly) n.4577T>G | |
11 | g.77198526G>A | CA475796378 | MYO7A | c.4473G>A (p.Val1491=) c.2314G>A c.4440G>A (p.Val1480=) c.2016G>A (p.Val672=) n.2126G>A c.4581G>A (p.Val1527=) c.4491G>A (p.Val1497=) c.4362G>A (p.Val1454=) c.4350G>A (p.Val1450=) c.4323G>A (p.Val1441=) n.4793G>A n.4795G>A c.4563G>A (p.Val1521=) c.4671G>A (p.Val1557=) n.4578G>A | |
11 | g.77198526G>C | CA475796379 | MYO7A | c.4473G>C (p.Val1491=) c.2314G>C c.4440G>C (p.Val1480=) c.2016G>C (p.Val672=) n.2126G>C c.4581G>C (p.Val1527=) c.4491G>C (p.Val1497=) c.4362G>C (p.Val1454=) c.4350G>C (p.Val1450=) c.4323G>C (p.Val1441=) n.4793G>C n.4795G>C c.4563G>C (p.Val1521=) c.4671G>C (p.Val1557=) n.4578G>C | |
11 | g.77198526G>T | CA475796380 | MYO7A | c.4473G>T (p.Val1491=) c.2314G>T c.4440G>T (p.Val1480=) c.2016G>T (p.Val672=) n.2126G>T c.4581G>T (p.Val1527=) c.4491G>T (p.Val1497=) c.4362G>T (p.Val1454=) c.4350G>T (p.Val1450=) c.4323G>T (p.Val1441=) n.4793G>T n.4795G>T c.4563G>T (p.Val1521=) c.4671G>T (p.Val1557=) n.4578G>T | |
11 | g.77198527del | CA2739270707 | MYO7A | c.4474del (p.Ala1492ProfsTer?) c.2315del c.4441del (p.Ala1481ProfsTer?) c.2017del (p.Ala673ProfsTer?) n.2127del c.4582del (p.Ala1528ProfsTer?) c.4492del (p.Ala1498ProfsTer?) c.4363del (p.Ala1455ProfsTer?) c.4351del (p.Ala1451ProfsTer?) c.4324del (p.Ala1442ProfsTer?) n.4794del n.4796del c.4564del (p.Ala1522ProfsTer?) c.4672del (p.Ala1558ProfsTer?) n.4579del | ClinVar |
11 | g.77198527G>A | CA381950266 | MYO7A | c.4474G>A (p.Ala1492Thr) c.2315G>A c.4441G>A (p.Ala1481Thr) c.2017G>A (p.Ala673Thr) n.2127G>A c.4582G>A (p.Ala1528Thr) c.4492G>A (p.Ala1498Thr) c.4363G>A (p.Ala1455Thr) c.4351G>A (p.Ala1451Thr) c.4324G>A (p.Ala1442Thr) n.4794G>A n.4796G>A c.4564G>A (p.Ala1522Thr) c.4672G>A (p.Ala1558Thr) n.4579G>A | dbSNP gnomAD v4 |
11 | g.77198527G>C | CA381950267 | MYO7A | c.4474G>C (p.Ala1492Pro) c.2315G>C c.4441G>C (p.Ala1481Pro) c.2017G>C (p.Ala673Pro) n.2127G>C c.4582G>C (p.Ala1528Pro) c.4492G>C (p.Ala1498Pro) c.4363G>C (p.Ala1455Pro) c.4351G>C (p.Ala1451Pro) c.4324G>C (p.Ala1442Pro) n.4794G>C n.4796G>C c.4564G>C (p.Ala1522Pro) c.4672G>C (p.Ala1558Pro) n.4579G>C | |
11 | g.77198527G= | CA1984121025 | MYO7A | c.4474G= (p.Ala1492=) c.2315G= c.4441G= (p.Ala1481=) c.2017G= (p.Ala673=) n.2127G= c.4582G= (p.Ala1528=) c.4492G= (p.Ala1498=) c.4363G= (p.Ala1455=) c.4351G= (p.Ala1451=) c.4324G= (p.Ala1442=) n.4794G= n.4796G= c.4564G= (p.Ala1522=) c.4672G= (p.Ala1558=) n.4579G= | |
11 | g.77198527G>T | CA381950268 | MYO7A | c.4474G>T (p.Ala1492Ser) c.2315G>T c.4441G>T (p.Ala1481Ser) c.2017G>T (p.Ala673Ser) n.2127G>T c.4582G>T (p.Ala1528Ser) c.4492G>T (p.Ala1498Ser) c.4363G>T (p.Ala1455Ser) c.4351G>T (p.Ala1451Ser) c.4324G>T (p.Ala1442Ser) n.4794G>T n.4796G>T c.4564G>T (p.Ala1522Ser) c.4672G>T (p.Ala1558Ser) n.4579G>T | |
11 | g.77198528C>A | CA381950269 | MYO7A | c.4475C>A (p.Ala1492Asp) c.2316C>A c.4442C>A (p.Ala1481Asp) c.2018C>A (p.Ala673Asp) n.2128C>A c.4583C>A (p.Ala1528Asp) c.4493C>A (p.Ala1498Asp) c.4364C>A (p.Ala1455Asp) c.4352C>A (p.Ala1451Asp) c.4325C>A (p.Ala1442Asp) n.4795C>A n.4797C>A c.4565C>A (p.Ala1522Asp) c.4673C>A (p.Ala1558Asp) n.4580C>A | |
11 | g.77198528C>G | CA381950270 | MYO7A | c.4475C>G (p.Ala1492Gly) c.2316C>G c.4442C>G (p.Ala1481Gly) c.2018C>G (p.Ala673Gly) n.2128C>G c.4583C>G (p.Ala1528Gly) c.4493C>G (p.Ala1498Gly) c.4364C>G (p.Ala1455Gly) c.4352C>G (p.Ala1451Gly) c.4325C>G (p.Ala1442Gly) n.4795C>G n.4797C>G c.4565C>G (p.Ala1522Gly) c.4673C>G (p.Ala1558Gly) n.4580C>G | |
11 | g.77198528C>T | CA381950271 | MYO7A | c.4475C>T (p.Ala1492Val) c.2316C>T c.4442C>T (p.Ala1481Val) c.2018C>T (p.Ala673Val) n.2128C>T c.4583C>T (p.Ala1528Val) c.4493C>T (p.Ala1498Val) c.4364C>T (p.Ala1455Val) c.4352C>T (p.Ala1451Val) c.4325C>T (p.Ala1442Val) n.4795C>T n.4797C>T c.4565C>T (p.Ala1522Val) c.4673C>T (p.Ala1558Val) n.4580C>T | |
11 | g.77198529C>A | CA475796381 | MYO7A | c.4476C>A (p.Ala1492=) c.2317C>A c.4443C>A (p.Ala1481=) c.2019C>A (p.Ala673=) n.2129C>A c.4584C>A (p.Ala1528=) c.4494C>A (p.Ala1498=) c.4365C>A (p.Ala1455=) c.4353C>A (p.Ala1451=) c.4326C>A (p.Ala1442=) n.4796C>A n.4798C>A c.4566C>A (p.Ala1522=) c.4674C>A (p.Ala1558=) n.4581C>A | |
11 | g.77198529C= | CA1984121028 | MYO7A | c.4476C= (p.Ala1492=) c.2317C= c.4443C= (p.Ala1481=) c.2019C= (p.Ala673=) n.2129C= c.4584C= (p.Ala1528=) c.4494C= (p.Ala1498=) c.4365C= (p.Ala1455=) c.4353C= (p.Ala1451=) c.4326C= (p.Ala1442=) n.4796C= n.4798C= c.4566C= (p.Ala1522=) c.4674C= (p.Ala1558=) n.4581C= | |
11 | g.77198529C>G | CA475796382 | MYO7A | c.4476C>G (p.Ala1492=) c.2317C>G c.4443C>G (p.Ala1481=) c.2019C>G (p.Ala673=) n.2129C>G c.4584C>G (p.Ala1528=) c.4494C>G (p.Ala1498=) c.4365C>G (p.Ala1455=) c.4353C>G (p.Ala1451=) c.4326C>G (p.Ala1442=) n.4796C>G n.4798C>G c.4566C>G (p.Ala1522=) c.4674C>G (p.Ala1558=) n.4581C>G | |
11 | g.77198529C>T | CA6198458 | MYO7A | c.4476C>T (p.Ala1492=) c.2317C>T c.4443C>T (p.Ala1481=) c.2019C>T (p.Ala673=) n.2129C>T c.4584C>T (p.Ala1528=) c.4494C>T (p.Ala1498=) c.4365C>T (p.Ala1455=) c.4353C>T (p.Ala1451=) c.4326C>T (p.Ala1442=) n.4796C>T n.4798C>T c.4566C>T (p.Ala1522=) c.4674C>T (p.Ala1558=) n.4581C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198530G>A | CA6198459 | MYO7A | c.4477G>A (p.Val1493Ile) c.2318G>A c.4444G>A (p.Val1482Ile) c.2020G>A (p.Val674Ile) n.2130G>A c.4585G>A (p.Val1529Ile) c.4495G>A (p.Val1499Ile) c.4366G>A (p.Val1456Ile) c.4354G>A (p.Val1452Ile) c.4327G>A (p.Val1443Ile) n.4797G>A n.4799G>A c.4567G>A (p.Val1523Ile) c.4675G>A (p.Val1559Ile) n.4582G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198530G>C | CA381950272 | MYO7A | c.4477G>C (p.Val1493Leu) c.2318G>C c.4444G>C (p.Val1482Leu) c.2020G>C (p.Val674Leu) n.2130G>C c.4585G>C (p.Val1529Leu) c.4495G>C (p.Val1499Leu) c.4366G>C (p.Val1456Leu) c.4354G>C (p.Val1452Leu) c.4327G>C (p.Val1443Leu) n.4797G>C n.4799G>C c.4567G>C (p.Val1523Leu) c.4675G>C (p.Val1559Leu) n.4582G>C | |
11 | g.77198530G= | CA1984121035 | MYO7A | c.4477G= (p.Val1493=) c.2318G= c.4444G= (p.Val1482=) c.2020G= (p.Val674=) n.2130G= c.4585G= (p.Val1529=) c.4495G= (p.Val1499=) c.4366G= (p.Val1456=) c.4354G= (p.Val1452=) c.4327G= (p.Val1443=) n.4797G= n.4799G= c.4567G= (p.Val1523=) c.4675G= (p.Val1559=) n.4582G= | |
11 | g.77198530G>T | CA381950273 | MYO7A | c.4477G>T (p.Val1493Phe) c.2318G>T c.4444G>T (p.Val1482Phe) c.2020G>T (p.Val674Phe) n.2130G>T c.4585G>T (p.Val1529Phe) c.4495G>T (p.Val1499Phe) c.4366G>T (p.Val1456Phe) c.4354G>T (p.Val1452Phe) c.4327G>T (p.Val1443Phe) n.4797G>T n.4799G>T c.4567G>T (p.Val1523Phe) c.4675G>T (p.Val1559Phe) n.4582G>T | |
11 | g.77198531T>A | CA381950274 | MYO7A | c.4478T>A (p.Val1493Asp) c.2319T>A c.4445T>A (p.Val1482Asp) c.2021T>A (p.Val674Asp) n.2131T>A c.4586T>A (p.Val1529Asp) c.4496T>A (p.Val1499Asp) c.4367T>A (p.Val1456Asp) c.4355T>A (p.Val1452Asp) c.4328T>A (p.Val1443Asp) n.4798T>A n.4800T>A c.4568T>A (p.Val1523Asp) c.4676T>A (p.Val1559Asp) n.4583T>A | |
11 | g.77198531T>C | CA381950275 | MYO7A | c.4478T>C (p.Val1493Ala) c.2319T>C c.4445T>C (p.Val1482Ala) c.2021T>C (p.Val674Ala) n.2131T>C c.4586T>C (p.Val1529Ala) c.4496T>C (p.Val1499Ala) c.4367T>C (p.Val1456Ala) c.4355T>C (p.Val1452Ala) c.4328T>C (p.Val1443Ala) n.4798T>C n.4800T>C c.4568T>C (p.Val1523Ala) c.4676T>C (p.Val1559Ala) n.4583T>C | |
11 | g.77198531T>G | CA381950276 | MYO7A | c.4478T>G (p.Val1493Gly) c.2319T>G c.4445T>G (p.Val1482Gly) c.2021T>G (p.Val674Gly) n.2131T>G c.4586T>G (p.Val1529Gly) c.4496T>G (p.Val1499Gly) c.4367T>G (p.Val1456Gly) c.4355T>G (p.Val1452Gly) c.4328T>G (p.Val1443Gly) n.4798T>G n.4800T>G c.4568T>G (p.Val1523Gly) c.4676T>G (p.Val1559Gly) n.4583T>G | |
11 | g.77198532C>A | CA475796383 | MYO7A | c.4479C>A (p.Val1493=) c.2320C>A c.4446C>A (p.Val1482=) c.2022C>A (p.Val674=) n.2132C>A c.4587C>A (p.Val1529=) c.4497C>A (p.Val1499=) c.4368C>A (p.Val1456=) c.4356C>A (p.Val1452=) c.4329C>A (p.Val1443=) n.4799C>A n.4801C>A c.4569C>A (p.Val1523=) c.4677C>A (p.Val1559=) n.4584C>A | |
11 | g.77198532C>G | CA475796384 | MYO7A | c.4479C>G (p.Val1493=) c.2320C>G c.4446C>G (p.Val1482=) c.2022C>G (p.Val674=) n.2132C>G c.4587C>G (p.Val1529=) c.4497C>G (p.Val1499=) c.4368C>G (p.Val1456=) c.4356C>G (p.Val1452=) c.4329C>G (p.Val1443=) n.4799C>G n.4801C>G c.4569C>G (p.Val1523=) c.4677C>G (p.Val1559=) n.4584C>G | |
11 | g.77198532C>T | CA475796385 | MYO7A | c.4479C>T (p.Val1493=) c.2320C>T c.4446C>T (p.Val1482=) c.2022C>T (p.Val674=) n.2132C>T c.4587C>T (p.Val1529=) c.4497C>T (p.Val1499=) c.4368C>T (p.Val1456=) c.4356C>T (p.Val1452=) c.4329C>T (p.Val1443=) n.4799C>T n.4801C>T c.4569C>T (p.Val1523=) c.4677C>T (p.Val1559=) n.4584C>T | ClinVar |
11 | g.77198533A>C | CA381950279 | MYO7A | c.4480A>C (p.Asn1494His) c.2321A>C c.4447A>C (p.Asn1483His) c.2023A>C (p.Asn675His) n.2133A>C c.4588A>C (p.Asn1530His) c.4498A>C (p.Asn1500His) c.4369A>C (p.Asn1457His) c.4357A>C (p.Asn1453His) c.4330A>C (p.Asn1444His) n.4800A>C n.4802A>C c.4570A>C (p.Asn1524His) c.4678A>C (p.Asn1560His) n.4585A>C | |
11 | g.77198533A>G | CA381950278 | MYO7A | c.4480A>G (p.Asn1494Asp) c.2321A>G c.4447A>G (p.Asn1483Asp) c.2023A>G (p.Asn675Asp) n.2133A>G c.4588A>G (p.Asn1530Asp) c.4498A>G (p.Asn1500Asp) c.4369A>G (p.Asn1457Asp) c.4357A>G (p.Asn1453Asp) c.4330A>G (p.Asn1444Asp) n.4800A>G n.4802A>G c.4570A>G (p.Asn1524Asp) c.4678A>G (p.Asn1560Asp) n.4585A>G | |
11 | g.77198533A>T | CA381950277 | MYO7A | c.4480A>T (p.Asn1494Tyr) c.2321A>T c.4447A>T (p.Asn1483Tyr) c.2023A>T (p.Asn675Tyr) n.2133A>T c.4588A>T (p.Asn1530Tyr) c.4498A>T (p.Asn1500Tyr) c.4369A>T (p.Asn1457Tyr) c.4357A>T (p.Asn1453Tyr) c.4330A>T (p.Asn1444Tyr) n.4800A>T n.4802A>T c.4570A>T (p.Asn1524Tyr) c.4678A>T (p.Asn1560Tyr) n.4585A>T | |
11 | g.77198534dup | CA2615264496 | MYO7A | c.4481dup (p.Asn1494LysfsTer10) c.2322dup c.4448dup (p.Asn1483LysfsTer10) c.2024dup (p.Asn675LysfsTer10) n.2134dup c.4589dup (p.Asn1530LysfsTer10) c.4499dup (p.Asn1500LysfsTer10) c.4370dup (p.Asn1457LysfsTer10) c.4358dup (p.Asn1453LysfsTer10) c.4331dup (p.Asn1444LysfsTer10) n.4801dup n.4803dup c.4571dup (p.Asn1524LysfsTer10) c.4679dup (p.Asn1560LysfsTer10) n.4586dup | gnomAD v4 |
11 | g.77198534A= | CA1984121040 | MYO7A | c.4481A= (p.Asn1494=) c.2322A= c.4448A= (p.Asn1483=) c.2024A= (p.Asn675=) n.2134A= c.4589A= (p.Asn1530=) c.4499A= (p.Asn1500=) c.4370A= (p.Asn1457=) c.4358A= (p.Asn1453=) c.4331A= (p.Asn1444=) n.4801A= n.4803A= c.4571A= (p.Asn1524=) c.4679A= (p.Asn1560=) n.4586A= | |
11 | g.77198534A>C | CA381950280 | MYO7A | c.4481A>C (p.Asn1494Thr) c.2322A>C c.4448A>C (p.Asn1483Thr) c.2024A>C (p.Asn675Thr) n.2134A>C c.4589A>C (p.Asn1530Thr) c.4499A>C (p.Asn1500Thr) c.4370A>C (p.Asn1457Thr) c.4358A>C (p.Asn1453Thr) c.4331A>C (p.Asn1444Thr) n.4801A>C n.4803A>C c.4571A>C (p.Asn1524Thr) c.4679A>C (p.Asn1560Thr) n.4586A>C | |
11 | g.77198534A>G | CA6198460 | MYO7A | c.4481A>G (p.Asn1494Ser) c.2322A>G c.4448A>G (p.Asn1483Ser) c.2024A>G (p.Asn675Ser) n.2134A>G c.4589A>G (p.Asn1530Ser) c.4499A>G (p.Asn1500Ser) c.4370A>G (p.Asn1457Ser) c.4358A>G (p.Asn1453Ser) c.4331A>G (p.Asn1444Ser) n.4801A>G n.4803A>G c.4571A>G (p.Asn1524Ser) c.4679A>G (p.Asn1560Ser) n.4586A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77198534A>T | CA381950281 | MYO7A | c.4481A>T (p.Asn1494Ile) c.2322A>T c.4448A>T (p.Asn1483Ile) c.2024A>T (p.Asn675Ile) n.2134A>T c.4589A>T (p.Asn1530Ile) c.4499A>T (p.Asn1500Ile) c.4370A>T (p.Asn1457Ile) c.4358A>T (p.Asn1453Ile) c.4331A>T (p.Asn1444Ile) n.4801A>T n.4803A>T c.4571A>T (p.Asn1524Ile) c.4679A>T (p.Asn1560Ile) n.4586A>T | |
11 | g.77198535C>A | CA381950282 | MYO7A | c.4482C>A (p.Asn1494Lys) c.2323C>A c.4449C>A (p.Asn1483Lys) c.2025C>A (p.Asn675Lys) n.2135C>A c.4590C>A (p.Asn1530Lys) c.4500C>A (p.Asn1500Lys) c.4371C>A (p.Asn1457Lys) c.4359C>A (p.Asn1453Lys) c.4332C>A (p.Asn1444Lys) n.4802C>A n.4804C>A c.4572C>A (p.Asn1524Lys) c.4680C>A (p.Asn1560Lys) n.4587C>A | |
11 | g.77198535C>G | CA381950283 | MYO7A | c.4482C>G (p.Asn1494Lys) c.2323C>G c.4449C>G (p.Asn1483Lys) c.2025C>G (p.Asn675Lys) n.2135C>G c.4590C>G (p.Asn1530Lys) c.4500C>G (p.Asn1500Lys) c.4371C>G (p.Asn1457Lys) c.4359C>G (p.Asn1453Lys) c.4332C>G (p.Asn1444Lys) n.4802C>G n.4804C>G c.4572C>G (p.Asn1524Lys) c.4680C>G (p.Asn1560Lys) n.4587C>G | gnomAD v4 |
11 | g.77198535C>T | CA475796386 | MYO7A | c.4482C>T (p.Asn1494=) c.2323C>T c.4449C>T (p.Asn1483=) c.2025C>T (p.Asn675=) n.2135C>T c.4590C>T (p.Asn1530=) c.4500C>T (p.Asn1500=) c.4371C>T (p.Asn1457=) c.4359C>T (p.Asn1453=) c.4332C>T (p.Asn1444=) n.4802C>T n.4804C>T c.4572C>T (p.Asn1524=) c.4680C>T (p.Asn1560=) n.4587C>T | |
11 | g.77198536T>A | CA381950284 | MYO7A | c.4483T>A (p.Trp1495Arg) c.2324T>A c.4450T>A (p.Trp1484Arg) c.2026T>A (p.Trp676Arg) n.2136T>A c.4591T>A (p.Trp1531Arg) c.4501T>A (p.Trp1501Arg) c.4372T>A (p.Trp1458Arg) c.4360T>A (p.Trp1454Arg) c.4333T>A (p.Trp1445Arg) n.4803T>A n.4805T>A c.4573T>A (p.Trp1525Arg) c.4681T>A (p.Trp1561Arg) n.4588T>A | gnomAD v4 |
11 | g.77198536T>C | CA6198461 | MYO7A | c.4483T>C (p.Trp1495Arg) c.2324T>C c.4450T>C (p.Trp1484Arg) c.2026T>C (p.Trp676Arg) n.2136T>C c.4591T>C (p.Trp1531Arg) c.4501T>C (p.Trp1501Arg) c.4372T>C (p.Trp1458Arg) c.4360T>C (p.Trp1454Arg) c.4333T>C (p.Trp1445Arg) n.4803T>C n.4805T>C c.4573T>C (p.Trp1525Arg) c.4681T>C (p.Trp1561Arg) n.4588T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77198536T>G | CA381950285 | MYO7A | c.4483T>G (p.Trp1495Gly) c.2324T>G c.4450T>G (p.Trp1484Gly) c.2026T>G (p.Trp676Gly) n.2136T>G c.4591T>G (p.Trp1531Gly) c.4501T>G (p.Trp1501Gly) c.4372T>G (p.Trp1458Gly) c.4360T>G (p.Trp1454Gly) c.4333T>G (p.Trp1445Gly) n.4803T>G n.4805T>G c.4573T>G (p.Trp1525Gly) c.4681T>G (p.Trp1561Gly) n.4588T>G | dbSNP |
11 | g.77198536T= | CA1984121044 | MYO7A | c.4483T= (p.Trp1495=) c.2324T= c.4450T= (p.Trp1484=) c.2026T= (p.Trp676=) n.2136T= c.4591T= (p.Trp1531=) c.4501T= (p.Trp1501=) c.4372T= (p.Trp1458=) c.4360T= (p.Trp1454=) c.4333T= (p.Trp1445=) n.4803T= n.4805T= c.4573T= (p.Trp1525=) c.4681T= (p.Trp1561=) n.4588T= | |
11 | g.77198536_77198537dup | CA2695215058 | MYO7A | c.4483_4484dup (p.Trp1495CysfsTer?) c.2324_2325dup c.4450_4451dup (p.Trp1484CysfsTer?) c.2026_2027dup (p.Trp676CysfsTer?) n.2136_2137dup c.4591_4592dup (p.Trp1531CysfsTer?) c.4501_4502dup (p.Trp1501CysfsTer?) c.4372_4373dup (p.Trp1458CysfsTer?) c.4360_4361dup (p.Trp1454CysfsTer?) c.4333_4334dup (p.Trp1445CysfsTer?) n.4803_4804dup n.4805_4806dup c.4573_4574dup (p.Trp1525CysfsTer?) c.4681_4682dup (p.Trp1561CysfsTer?) n.4588_4589dup | |
11 | g.77198537G>A | CA381950286 | MYO7A | c.4484G>A (p.Trp1495Ter) c.2325G>A c.4451G>A (p.Trp1484Ter) c.2027G>A (p.Trp676Ter) n.2137G>A c.4592G>A (p.Trp1531Ter) c.4502G>A (p.Trp1501Ter) c.4373G>A (p.Trp1458Ter) c.4361G>A (p.Trp1454Ter) c.4334G>A (p.Trp1445Ter) n.4804G>A n.4806G>A c.4574G>A (p.Trp1525Ter) c.4682G>A (p.Trp1561Ter) n.4589G>A | |
11 | g.77198537G>C | CA381950287 | MYO7A | c.4484G>C (p.Trp1495Ser) c.2325G>C c.4451G>C (p.Trp1484Ser) c.2027G>C (p.Trp676Ser) n.2137G>C c.4592G>C (p.Trp1531Ser) c.4502G>C (p.Trp1501Ser) c.4373G>C (p.Trp1458Ser) c.4361G>C (p.Trp1454Ser) c.4334G>C (p.Trp1445Ser) n.4804G>C n.4806G>C c.4574G>C (p.Trp1525Ser) c.4682G>C (p.Trp1561Ser) n.4589G>C | |
11 | g.77198537G>T | CA381950288 | MYO7A | c.4484G>T (p.Trp1495Leu) c.2325G>T c.4451G>T (p.Trp1484Leu) c.2027G>T (p.Trp676Leu) n.2137G>T c.4592G>T (p.Trp1531Leu) c.4502G>T (p.Trp1501Leu) c.4373G>T (p.Trp1458Leu) c.4361G>T (p.Trp1454Leu) c.4334G>T (p.Trp1445Leu) n.4804G>T n.4806G>T c.4574G>T (p.Trp1525Leu) c.4682G>T (p.Trp1561Leu) n.4589G>T | |
11 | g.77198538G>A | CA381950289 | MYO7A | c.4485G>A (p.Trp1495Ter) c.2326G>A c.4452G>A (p.Trp1484Ter) c.2028G>A (p.Trp676Ter) n.2138G>A c.4593G>A (p.Trp1531Ter) c.4503G>A (p.Trp1501Ter) c.4374G>A (p.Trp1458Ter) c.4362G>A (p.Trp1454Ter) c.4335G>A (p.Trp1445Ter) n.4805G>A n.4807G>A c.4575G>A (p.Trp1525Ter) c.4683G>A (p.Trp1561Ter) n.4590G>A | |
11 | g.77198538G>C | CA381950290 | MYO7A | c.4485G>C (p.Trp1495Cys) c.2326G>C c.4452G>C (p.Trp1484Cys) c.2028G>C (p.Trp676Cys) n.2138G>C c.4593G>C (p.Trp1531Cys) c.4503G>C (p.Trp1501Cys) c.4374G>C (p.Trp1458Cys) c.4362G>C (p.Trp1454Cys) c.4335G>C (p.Trp1445Cys) n.4805G>C n.4807G>C c.4575G>C (p.Trp1525Cys) c.4683G>C (p.Trp1561Cys) n.4590G>C | |
11 | g.77198538G>T | CA381950291 | MYO7A | c.4485G>T (p.Trp1495Cys) c.2326G>T c.4452G>T (p.Trp1484Cys) c.2028G>T (p.Trp676Cys) n.2138G>T c.4593G>T (p.Trp1531Cys) c.4503G>T (p.Trp1501Cys) c.4374G>T (p.Trp1458Cys) c.4362G>T (p.Trp1454Cys) c.4335G>T (p.Trp1445Cys) n.4805G>T n.4807G>T c.4575G>T (p.Trp1525Cys) c.4683G>T (p.Trp1561Cys) n.4590G>T | |
11 | g.77198539A>C | CA381950293 | MYO7A | c.4486A>C (p.Thr1496Pro) c.2327A>C c.4453A>C (p.Thr1485Pro) c.2029A>C (p.Thr677Pro) n.2139A>C c.4594A>C (p.Thr1532Pro) c.4504A>C (p.Thr1502Pro) c.4375A>C (p.Thr1459Pro) c.4363A>C (p.Thr1455Pro) c.4336A>C (p.Thr1446Pro) n.4806A>C n.4808A>C c.4576A>C (p.Thr1526Pro) c.4684A>C (p.Thr1562Pro) n.4591A>C | |
11 | g.77198539A>G | CA381950294 | MYO7A | c.4486A>G (p.Thr1496Ala) c.2327A>G c.4453A>G (p.Thr1485Ala) c.2029A>G (p.Thr677Ala) n.2139A>G c.4594A>G (p.Thr1532Ala) c.4504A>G (p.Thr1502Ala) c.4375A>G (p.Thr1459Ala) c.4363A>G (p.Thr1455Ala) c.4336A>G (p.Thr1446Ala) n.4806A>G n.4808A>G c.4576A>G (p.Thr1526Ala) c.4684A>G (p.Thr1562Ala) n.4591A>G | |
11 | g.77198539A>T | CA381950292 | MYO7A | c.4486A>T (p.Thr1496Ser) c.2327A>T c.4453A>T (p.Thr1485Ser) c.2029A>T (p.Thr677Ser) n.2139A>T c.4594A>T (p.Thr1532Ser) c.4504A>T (p.Thr1502Ser) c.4375A>T (p.Thr1459Ser) c.4363A>T (p.Thr1455Ser) c.4336A>T (p.Thr1446Ser) n.4806A>T n.4808A>T c.4576A>T (p.Thr1526Ser) c.4684A>T (p.Thr1562Ser) n.4591A>T | |
11 | g.77198540C>A | CA224848774 | MYO7A | c.4487C>A (p.Thr1496Lys) c.2328C>A c.4454C>A (p.Thr1485Lys) c.2030C>A (p.Thr677Lys) n.2140C>A c.4595C>A (p.Thr1532Lys) c.4505C>A (p.Thr1502Lys) c.4376C>A (p.Thr1459Lys) c.4364C>A (p.Thr1455Lys) c.4337C>A (p.Thr1446Lys) n.4807C>A n.4809C>A c.4577C>A (p.Thr1526Lys) c.4685C>A (p.Thr1562Lys) n.4592C>A | dbSNP gnomAD v4 |
11 | g.77198540C= | CA1984121051 | MYO7A | c.4487C= (p.Thr1496=) c.2328C= c.4454C= (p.Thr1485=) c.2030C= (p.Thr677=) n.2140C= c.4595C= (p.Thr1532=) c.4505C= (p.Thr1502=) c.4376C= (p.Thr1459=) c.4364C= (p.Thr1455=) c.4337C= (p.Thr1446=) n.4807C= n.4809C= c.4577C= (p.Thr1526=) c.4685C= (p.Thr1562=) n.4592C= | |
11 | g.77198540C>G | CA381950295 | MYO7A | c.4487C>G (p.Thr1496Arg) c.2328C>G c.4454C>G (p.Thr1485Arg) c.2030C>G (p.Thr677Arg) n.2140C>G c.4595C>G (p.Thr1532Arg) c.4505C>G (p.Thr1502Arg) c.4376C>G (p.Thr1459Arg) c.4364C>G (p.Thr1455Arg) c.4337C>G (p.Thr1446Arg) n.4807C>G n.4809C>G c.4577C>G (p.Thr1526Arg) c.4685C>G (p.Thr1562Arg) n.4592C>G | dbSNP |
11 | g.77198540C>T | CA6198462 | MYO7A | c.4487C>T (p.Thr1496Met) c.2328C>T c.4454C>T (p.Thr1485Met) c.2030C>T (p.Thr677Met) n.2140C>T c.4595C>T (p.Thr1532Met) c.4505C>T (p.Thr1502Met) c.4376C>T (p.Thr1459Met) c.4364C>T (p.Thr1455Met) c.4337C>T (p.Thr1446Met) n.4807C>T n.4809C>T c.4577C>T (p.Thr1526Met) c.4685C>T (p.Thr1562Met) n.4592C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198541G>A | CA177393 | MYO7A | c.4488G>A (p.Thr1496=) c.2329G>A c.4455G>A (p.Thr1485=) c.2031G>A (p.Thr677=) n.2141G>A c.4596G>A (p.Thr1532=) c.4506G>A (p.Thr1502=) c.4377G>A (p.Thr1459=) c.4365G>A (p.Thr1455=) c.4338G>A (p.Thr1446=) n.4808G>A n.4810G>A c.4578G>A (p.Thr1526=) c.4686G>A (p.Thr1562=) n.4593G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198541G>C | CA475796388 | MYO7A | c.4488G>C (p.Thr1496=) c.2329G>C c.4455G>C (p.Thr1485=) c.2031G>C (p.Thr677=) n.2141G>C c.4596G>C (p.Thr1532=) c.4506G>C (p.Thr1502=) c.4377G>C (p.Thr1459=) c.4365G>C (p.Thr1455=) c.4338G>C (p.Thr1446=) n.4808G>C n.4810G>C c.4578G>C (p.Thr1526=) c.4686G>C (p.Thr1562=) n.4593G>C | gnomAD v4 |
11 | g.77198541G= | CA1984121056 | MYO7A | c.4488G= (p.Thr1496=) c.2329G= c.4455G= (p.Thr1485=) c.2031G= (p.Thr677=) n.2141G= c.4596G= (p.Thr1532=) c.4506G= (p.Thr1502=) c.4377G= (p.Thr1459=) c.4365G= (p.Thr1455=) c.4338G= (p.Thr1446=) n.4808G= n.4810G= c.4578G= (p.Thr1526=) c.4686G= (p.Thr1562=) n.4593G= | |
11 | g.77198541G>T | CA475796387 | MYO7A | c.4488G>T (p.Thr1496=) c.2329G>T c.4455G>T (p.Thr1485=) c.2031G>T (p.Thr677=) n.2141G>T c.4596G>T (p.Thr1532=) c.4506G>T (p.Thr1502=) c.4377G>T (p.Thr1459=) c.4365G>T (p.Thr1455=) c.4338G>T (p.Thr1446=) n.4808G>T n.4810G>T c.4578G>T (p.Thr1526=) c.4686G>T (p.Thr1562=) n.4593G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77198542_77198543dup | CA2615264515 | MYO7A | c.4489_4490dup (p.Tyr1499CysfsTer?) c.2330_2331dup c.4456_4457dup (p.Tyr1488CysfsTer?) c.2032_2033dup (p.Tyr680CysfsTer?) n.2142_2143dup c.4597_4598dup (p.Tyr1535CysfsTer?) c.4507_4508dup (p.Tyr1505CysfsTer?) c.4378_4379dup (p.Tyr1462CysfsTer?) c.4366_4367dup (p.Tyr1458CysfsTer?) c.4339_4340dup (p.Tyr1449CysfsTer?) n.4809_4810dup n.4811_4812dup c.4579_4580dup (p.Tyr1529CysfsTer?) c.4687_4688dup (p.Tyr1565CysfsTer?) n.4594_4595dup | gnomAD v4 |
11 | g.77198542G>A | CA6198463 | MYO7A | c.4489G>A (p.Gly1497Ser) c.2330G>A c.4456G>A (p.Gly1486Ser) c.2032G>A (p.Gly678Ser) n.2142G>A c.4597G>A (p.Gly1533Ser) c.4507G>A (p.Gly1503Ser) c.4378G>A (p.Gly1460Ser) c.4366G>A (p.Gly1456Ser) c.4339G>A (p.Gly1447Ser) n.4809G>A n.4811G>A c.4579G>A (p.Gly1527Ser) c.4687G>A (p.Gly1563Ser) n.4594G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77198542G>C | CA381950296 | MYO7A | c.4489G>C (p.Gly1497Arg) c.2330G>C c.4456G>C (p.Gly1486Arg) c.2032G>C (p.Gly678Arg) n.2142G>C c.4597G>C (p.Gly1533Arg) c.4507G>C (p.Gly1503Arg) c.4378G>C (p.Gly1460Arg) c.4366G>C (p.Gly1456Arg) c.4339G>C (p.Gly1447Arg) n.4809G>C n.4811G>C c.4579G>C (p.Gly1527Arg) c.4687G>C (p.Gly1563Arg) n.4594G>C | ClinVar dbSNP gnomAD v4 |
11 | g.77198542G= | CA1984121061 | MYO7A | c.4489G= (p.Gly1497=) c.2330G= c.4456G= (p.Gly1486=) c.2032G= (p.Gly678=) n.2142G= c.4597G= (p.Gly1533=) c.4507G= (p.Gly1503=) c.4378G= (p.Gly1460=) c.4366G= (p.Gly1456=) c.4339G= (p.Gly1447=) n.4809G= n.4811G= c.4579G= (p.Gly1527=) c.4687G= (p.Gly1563=) n.4594G= | |
11 | g.77198542G>T | CA381950297 | MYO7A | c.4489G>T (p.Gly1497Cys) c.2330G>T c.4456G>T (p.Gly1486Cys) c.2032G>T (p.Gly678Cys) n.2142G>T c.4597G>T (p.Gly1533Cys) c.4507G>T (p.Gly1503Cys) c.4378G>T (p.Gly1460Cys) c.4366G>T (p.Gly1456Cys) c.4339G>T (p.Gly1447Cys) n.4809G>T n.4811G>T c.4579G>T (p.Gly1527Cys) c.4687G>T (p.Gly1563Cys) n.4594G>T | |
11 | g.77198543G>A | CA381950298 | MYO7A | c.4490G>A (p.Gly1497Asp) c.2331G>A c.4457G>A (p.Gly1486Asp) c.2033G>A (p.Gly678Asp) n.2143G>A c.4598G>A (p.Gly1533Asp) c.4508G>A (p.Gly1503Asp) c.4379G>A (p.Gly1460Asp) c.4367G>A (p.Gly1456Asp) c.4340G>A (p.Gly1447Asp) n.4810G>A n.4812G>A c.4580G>A (p.Gly1527Asp) c.4688G>A (p.Gly1563Asp) n.4595G>A | |
11 | g.77198543G>C | CA381950299 | MYO7A | c.4490G>C (p.Gly1497Ala) c.2331G>C c.4457G>C (p.Gly1486Ala) c.2033G>C (p.Gly678Ala) n.2143G>C c.4598G>C (p.Gly1533Ala) c.4508G>C (p.Gly1503Ala) c.4379G>C (p.Gly1460Ala) c.4367G>C (p.Gly1456Ala) c.4340G>C (p.Gly1447Ala) n.4810G>C n.4812G>C c.4580G>C (p.Gly1527Ala) c.4688G>C (p.Gly1563Ala) n.4595G>C | |
11 | g.77198543G>T | CA381950300 | MYO7A | c.4490G>T (p.Gly1497Val) c.2331G>T c.4457G>T (p.Gly1486Val) c.2033G>T (p.Gly678Val) n.2143G>T c.4598G>T (p.Gly1533Val) c.4508G>T (p.Gly1503Val) c.4379G>T (p.Gly1460Val) c.4367G>T (p.Gly1456Val) c.4340G>T (p.Gly1447Val) n.4810G>T n.4812G>T c.4580G>T (p.Gly1527Val) c.4688G>T (p.Gly1563Val) n.4595G>T | ClinVar dbSNP |
11 | g.77198544T>A | CA475796389 | MYO7A | c.4491T>A (p.Gly1497=) c.2332T>A c.4458T>A (p.Gly1486=) c.2034T>A (p.Gly678=) n.2144T>A c.4599T>A (p.Gly1533=) c.4509T>A (p.Gly1503=) c.4380T>A (p.Gly1460=) c.4368T>A (p.Gly1456=) c.4341T>A (p.Gly1447=) n.4811T>A n.4813T>A c.4581T>A (p.Gly1527=) c.4689T>A (p.Gly1563=) n.4596T>A | ClinVar dbSNP |
11 | g.77198544T>C | CA475796390 | MYO7A | c.4491T>C (p.Gly1497=) c.2332T>C c.4458T>C (p.Gly1486=) c.2034T>C (p.Gly678=) n.2144T>C c.4599T>C (p.Gly1533=) c.4509T>C (p.Gly1503=) c.4380T>C (p.Gly1460=) c.4368T>C (p.Gly1456=) c.4341T>C (p.Gly1447=) n.4811T>C n.4813T>C c.4581T>C (p.Gly1527=) c.4689T>C (p.Gly1563=) n.4596T>C | |
11 | g.77198544T>G | CA475796391 | MYO7A | c.4491T>G (p.Gly1497=) c.2332T>G c.4458T>G (p.Gly1486=) c.2034T>G (p.Gly678=) n.2144T>G c.4599T>G (p.Gly1533=) c.4509T>G (p.Gly1503=) c.4380T>G (p.Gly1460=) c.4368T>G (p.Gly1456=) c.4341T>G (p.Gly1447=) n.4811T>G n.4813T>G c.4581T>G (p.Gly1527=) c.4689T>G (p.Gly1563=) n.4596T>G | |
11 | g.77198545G>A | CA381950301 | MYO7A | c.4492G>A (p.Val1498Met) c.2333G>A c.4459G>A (p.Val1487Met) c.2035G>A (p.Val679Met) n.2145G>A c.4600G>A (p.Val1534Met) c.4510G>A (p.Val1504Met) c.4381G>A (p.Val1461Met) c.4369G>A (p.Val1457Met) c.4342G>A (p.Val1448Met) n.4812G>A n.4814G>A c.4582G>A (p.Val1528Met) c.4690G>A (p.Val1564Met) n.4597G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77198545G>C | CA381950302 | MYO7A | c.4492G>C (p.Val1498Leu) c.2333G>C c.4459G>C (p.Val1487Leu) c.2035G>C (p.Val679Leu) n.2145G>C c.4600G>C (p.Val1534Leu) c.4510G>C (p.Val1504Leu) c.4381G>C (p.Val1461Leu) c.4369G>C (p.Val1457Leu) c.4342G>C (p.Val1448Leu) n.4812G>C n.4814G>C c.4582G>C (p.Val1528Leu) c.4690G>C (p.Val1564Leu) n.4597G>C | |
11 | g.77198545G= | CA1984121067 | MYO7A | c.4492G= (p.Val1498=) c.2333G= c.4459G= (p.Val1487=) c.2035G= (p.Val679=) n.2145G= c.4600G= (p.Val1534=) c.4510G= (p.Val1504=) c.4381G= (p.Val1461=) c.4369G= (p.Val1457=) c.4342G= (p.Val1448=) n.4812G= n.4814G= c.4582G= (p.Val1528=) c.4690G= (p.Val1564=) n.4597G= | |
11 | g.77198545G>T | CA381950303 | MYO7A | c.4492G>T (p.Val1498Leu) c.2333G>T c.4459G>T (p.Val1487Leu) c.2035G>T (p.Val679Leu) n.2145G>T c.4600G>T (p.Val1534Leu) c.4510G>T (p.Val1504Leu) c.4381G>T (p.Val1461Leu) c.4369G>T (p.Val1457Leu) c.4342G>T (p.Val1448Leu) n.4812G>T n.4814G>T c.4582G>T (p.Val1528Leu) c.4690G>T (p.Val1564Leu) n.4597G>T | |
11 | g.77198546T>A | CA381950305 | MYO7A | c.4493T>A (p.Val1498Glu) c.2334T>A c.4460T>A (p.Val1487Glu) c.2036T>A (p.Val679Glu) n.2146T>A c.4601T>A (p.Val1534Glu) c.4511T>A (p.Val1504Glu) c.4382T>A (p.Val1461Glu) c.4370T>A (p.Val1457Glu) c.4343T>A (p.Val1448Glu) n.4813T>A n.4815T>A c.4583T>A (p.Val1528Glu) c.4691T>A (p.Val1564Glu) n.4598T>A | gnomAD v4 |
11 | g.77198546T>C | CA224848780 | MYO7A | c.4493T>C (p.Val1498Ala) c.2334T>C c.4460T>C (p.Val1487Ala) c.2036T>C (p.Val679Ala) n.2146T>C c.4601T>C (p.Val1534Ala) c.4511T>C (p.Val1504Ala) c.4382T>C (p.Val1461Ala) c.4370T>C (p.Val1457Ala) c.4343T>C (p.Val1448Ala) n.4813T>C n.4815T>C c.4583T>C (p.Val1528Ala) c.4691T>C (p.Val1564Ala) n.4598T>C | dbSNP gnomAD v4 |
11 | g.77198546T>G | CA381950304 | MYO7A | c.4493T>G (p.Val1498Gly) c.2334T>G c.4460T>G (p.Val1487Gly) c.2036T>G (p.Val679Gly) n.2146T>G c.4601T>G (p.Val1534Gly) c.4511T>G (p.Val1504Gly) c.4382T>G (p.Val1461Gly) c.4370T>G (p.Val1457Gly) c.4343T>G (p.Val1448Gly) n.4813T>G n.4815T>G c.4583T>G (p.Val1528Gly) c.4691T>G (p.Val1564Gly) n.4598T>G | |
11 | g.77198546T= | CA1984121070 | MYO7A | c.4493T= (p.Val1498=) c.2334T= c.4460T= (p.Val1487=) c.2036T= (p.Val679=) n.2146T= c.4601T= (p.Val1534=) c.4511T= (p.Val1504=) c.4382T= (p.Val1461=) c.4370T= (p.Val1457=) c.4343T= (p.Val1448=) n.4813T= n.4815T= c.4583T= (p.Val1528=) c.4691T= (p.Val1564=) n.4598T= | |
11 | g.77198547G>A | CA475796392 | MYO7A | c.4494G>A (p.Val1498=) c.2335G>A c.4461G>A (p.Val1487=) c.2037G>A (p.Val679=) n.2147G>A c.4602G>A (p.Val1534=) c.4512G>A (p.Val1504=) c.4383G>A (p.Val1461=) c.4371G>A (p.Val1457=) c.4344G>A (p.Val1448=) n.4814G>A n.4816G>A c.4584G>A (p.Val1528=) c.4692G>A (p.Val1564=) n.4599G>A | ClinVar dbSNP |
11 | g.77198547G>C | CA475796393 | MYO7A | c.4494G>C (p.Val1498=) c.2335G>C c.4461G>C (p.Val1487=) c.2037G>C (p.Val679=) n.2147G>C c.4602G>C (p.Val1534=) c.4512G>C (p.Val1504=) c.4383G>C (p.Val1461=) c.4371G>C (p.Val1457=) c.4344G>C (p.Val1448=) n.4814G>C n.4816G>C c.4584G>C (p.Val1528=) c.4692G>C (p.Val1564=) n.4599G>C | |
11 | g.77198547G= | CA1984121075 | MYO7A | c.4494G= (p.Val1498=) c.2335G= c.4461G= (p.Val1487=) c.2037G= (p.Val679=) n.2147G= c.4602G= (p.Val1534=) c.4512G= (p.Val1504=) c.4383G= (p.Val1461=) c.4371G= (p.Val1457=) c.4344G= (p.Val1448=) n.4814G= n.4816G= c.4584G= (p.Val1528=) c.4692G= (p.Val1564=) n.4599G= | |
11 | g.77198547G>T | CA475796394 | MYO7A | c.4494G>T (p.Val1498=) c.2335G>T c.4461G>T (p.Val1487=) c.2037G>T (p.Val679=) n.2147G>T c.4602G>T (p.Val1534=) c.4512G>T (p.Val1504=) c.4383G>T (p.Val1461=) c.4371G>T (p.Val1457=) c.4344G>T (p.Val1448=) n.4814G>T n.4816G>T c.4584G>T (p.Val1528=) c.4692G>T (p.Val1564=) n.4599G>T | |
11 | g.77198548T>A | CA381950306 | MYO7A | c.4495T>A (p.Tyr1499Asn) c.2336T>A c.4462T>A (p.Tyr1488Asn) c.2038T>A (p.Tyr680Asn) n.2148T>A c.4603T>A (p.Tyr1535Asn) c.4513T>A (p.Tyr1505Asn) c.4384T>A (p.Tyr1462Asn) c.4372T>A (p.Tyr1458Asn) c.4345T>A (p.Tyr1449Asn) n.4815T>A n.4817T>A c.4585T>A (p.Tyr1529Asn) c.4693T>A (p.Tyr1565Asn) n.4600T>A | |
11 | g.77198548T>C | CA381950307 | MYO7A | c.4495T>C (p.Tyr1499His) c.2336T>C c.4462T>C (p.Tyr1488His) c.2038T>C (p.Tyr680His) n.2148T>C c.4603T>C (p.Tyr1535His) c.4513T>C (p.Tyr1505His) c.4384T>C (p.Tyr1462His) c.4372T>C (p.Tyr1458His) c.4345T>C (p.Tyr1449His) n.4815T>C n.4817T>C c.4585T>C (p.Tyr1529His) c.4693T>C (p.Tyr1565His) n.4600T>C | |
11 | g.77198548T>G | CA381950308 | MYO7A | c.4495T>G (p.Tyr1499Asp) c.2336T>G c.4462T>G (p.Tyr1488Asp) c.2038T>G (p.Tyr680Asp) n.2148T>G c.4603T>G (p.Tyr1535Asp) c.4513T>G (p.Tyr1505Asp) c.4384T>G (p.Tyr1462Asp) c.4372T>G (p.Tyr1458Asp) c.4345T>G (p.Tyr1449Asp) n.4815T>G n.4817T>G c.4585T>G (p.Tyr1529Asp) c.4693T>G (p.Tyr1565Asp) n.4600T>G | |
11 | g.77198549A>C | CA381950309 | MYO7A | c.4496A>C (p.Tyr1499Ser) c.2337A>C c.4463A>C (p.Tyr1488Ser) c.2039A>C (p.Tyr680Ser) n.2149A>C c.4604A>C (p.Tyr1535Ser) c.4514A>C (p.Tyr1505Ser) c.4385A>C (p.Tyr1462Ser) c.4373A>C (p.Tyr1458Ser) c.4346A>C (p.Tyr1449Ser) n.4816A>C n.4818A>C c.4586A>C (p.Tyr1529Ser) c.4694A>C (p.Tyr1565Ser) n.4601A>C | |
11 | g.77198549A>G | CA381950310 | MYO7A | c.4496A>G (p.Tyr1499Cys) c.2337A>G c.4463A>G (p.Tyr1488Cys) c.2039A>G (p.Tyr680Cys) n.2149A>G c.4604A>G (p.Tyr1535Cys) c.4514A>G (p.Tyr1505Cys) c.4385A>G (p.Tyr1462Cys) c.4373A>G (p.Tyr1458Cys) c.4346A>G (p.Tyr1449Cys) n.4816A>G n.4818A>G c.4586A>G (p.Tyr1529Cys) c.4694A>G (p.Tyr1565Cys) n.4601A>G | |
11 | g.77198549A>T | CA381950311 | MYO7A | c.4496A>T (p.Tyr1499Phe) c.2337A>T c.4463A>T (p.Tyr1488Phe) c.2039A>T (p.Tyr680Phe) n.2149A>T c.4604A>T (p.Tyr1535Phe) c.4514A>T (p.Tyr1505Phe) c.4385A>T (p.Tyr1462Phe) c.4373A>T (p.Tyr1458Phe) c.4346A>T (p.Tyr1449Phe) n.4816A>T n.4818A>T c.4586A>T (p.Tyr1529Phe) c.4694A>T (p.Tyr1565Phe) n.4601A>T | |
11 | g.77198550C>A | CA381950312 | MYO7A | c.4497C>A (p.Tyr1499Ter) c.2338C>A c.4464C>A (p.Tyr1488Ter) c.2040C>A (p.Tyr680Ter) n.2150C>A c.4605C>A (p.Tyr1535Ter) c.4515C>A (p.Tyr1505Ter) c.4386C>A (p.Tyr1462Ter) c.4374C>A (p.Tyr1458Ter) c.4347C>A (p.Tyr1449Ter) n.4817C>A n.4819C>A c.4587C>A (p.Tyr1529Ter) c.4695C>A (p.Tyr1565Ter) n.4602C>A | |
11 | g.77198550C>G | CA381950313 | MYO7A | c.4497C>G (p.Tyr1499Ter) c.2338C>G c.4464C>G (p.Tyr1488Ter) c.2040C>G (p.Tyr680Ter) n.2150C>G c.4605C>G (p.Tyr1535Ter) c.4515C>G (p.Tyr1505Ter) c.4386C>G (p.Tyr1462Ter) c.4374C>G (p.Tyr1458Ter) c.4347C>G (p.Tyr1449Ter) n.4817C>G n.4819C>G c.4587C>G (p.Tyr1529Ter) c.4695C>G (p.Tyr1565Ter) n.4602C>G | |
11 | g.77198550C>T | CA475796395 | MYO7A | c.4497C>T (p.Tyr1499=) c.2338C>T c.4464C>T (p.Tyr1488=) c.2040C>T (p.Tyr680=) n.2150C>T c.4605C>T (p.Tyr1535=) c.4515C>T (p.Tyr1505=) c.4386C>T (p.Tyr1462=) c.4374C>T (p.Tyr1458=) c.4347C>T (p.Tyr1449=) n.4817C>T n.4819C>T c.4587C>T (p.Tyr1529=) c.4695C>T (p.Tyr1565=) n.4602C>T | |
11 | g.77198551T>A | CA381950314 | MYO7A | c.4498T>A (p.Phe1500Ile) c.2339T>A c.4465T>A (p.Phe1489Ile) c.2041T>A (p.Phe681Ile) n.2151T>A c.4606T>A (p.Phe1536Ile) c.4516T>A (p.Phe1506Ile) c.4387T>A (p.Phe1463Ile) c.4375T>A (p.Phe1459Ile) c.4348T>A (p.Phe1450Ile) n.4818T>A n.4820T>A c.4588T>A (p.Phe1530Ile) c.4696T>A (p.Phe1566Ile) n.4603T>A | |
11 | g.77198551T>C | CA381950315 | MYO7A | c.4498T>C (p.Phe1500Leu) c.2339T>C c.4465T>C (p.Phe1489Leu) c.2041T>C (p.Phe681Leu) n.2151T>C c.4606T>C (p.Phe1536Leu) c.4516T>C (p.Phe1506Leu) c.4387T>C (p.Phe1463Leu) c.4375T>C (p.Phe1459Leu) c.4348T>C (p.Phe1450Leu) n.4818T>C n.4820T>C c.4588T>C (p.Phe1530Leu) c.4696T>C (p.Phe1566Leu) n.4603T>C | dbSNP |
11 | g.77198551T>G | CA381950316 | MYO7A | c.4498T>G (p.Phe1500Val) c.2339T>G c.4465T>G (p.Phe1489Val) c.2041T>G (p.Phe681Val) n.2151T>G c.4606T>G (p.Phe1536Val) c.4516T>G (p.Phe1506Val) c.4387T>G (p.Phe1463Val) c.4375T>G (p.Phe1459Val) c.4348T>G (p.Phe1450Val) n.4818T>G n.4820T>G c.4588T>G (p.Phe1530Val) c.4696T>G (p.Phe1566Val) n.4603T>G | |
11 | g.77198551T= | CA1984121077 | MYO7A | c.4498T= (p.Phe1500=) c.2339T= c.4465T= (p.Phe1489=) c.2041T= (p.Phe681=) n.2151T= c.4606T= (p.Phe1536=) c.4516T= (p.Phe1506=) c.4387T= (p.Phe1463=) c.4375T= (p.Phe1459=) c.4348T= (p.Phe1450=) n.4818T= n.4820T= c.4588T= (p.Phe1530=) c.4696T= (p.Phe1566=) n.4603T= | |
11 | g.77198552T>A | CA381950319 | MYO7A | c.4499T>A (p.Phe1500Tyr) c.2340T>A c.4466T>A (p.Phe1489Tyr) c.2042T>A (p.Phe681Tyr) n.2152T>A c.4607T>A (p.Phe1536Tyr) c.4517T>A (p.Phe1506Tyr) c.4388T>A (p.Phe1463Tyr) c.4376T>A (p.Phe1459Tyr) c.4349T>A (p.Phe1450Tyr) n.4819T>A n.4821T>A c.4589T>A (p.Phe1530Tyr) c.4697T>A (p.Phe1566Tyr) n.4604T>A | |
11 | g.77198552T>C | CA381950318 | MYO7A | c.4499T>C (p.Phe1500Ser) c.2340T>C c.4466T>C (p.Phe1489Ser) c.2042T>C (p.Phe681Ser) n.2152T>C c.4607T>C (p.Phe1536Ser) c.4517T>C (p.Phe1506Ser) c.4388T>C (p.Phe1463Ser) c.4376T>C (p.Phe1459Ser) c.4349T>C (p.Phe1450Ser) n.4819T>C n.4821T>C c.4589T>C (p.Phe1530Ser) c.4697T>C (p.Phe1566Ser) n.4604T>C | |
11 | g.77198552T>G | CA381950317 | MYO7A | c.4499T>G (p.Phe1500Cys) c.2340T>G c.4466T>G (p.Phe1489Cys) c.2042T>G (p.Phe681Cys) n.2152T>G c.4607T>G (p.Phe1536Cys) c.4517T>G (p.Phe1506Cys) c.4388T>G (p.Phe1463Cys) c.4376T>G (p.Phe1459Cys) c.4349T>G (p.Phe1450Cys) n.4819T>G n.4821T>G c.4589T>G (p.Phe1530Cys) c.4697T>G (p.Phe1566Cys) n.4604T>G | |
11 | g.77198552_77198554delinsTTG | CA1984121080 | MYO7A | c.4499_4501delinsTTG (p.Phe1500=) c.2340_2342delinsTTG c.4466_4468delinsTTG (p.Phe1489=) c.2042_2044delinsTTG (p.Phe681=) n.2152_2154delinsTTG c.4607_4609delinsTTG (p.Phe1536=) c.4517_4519delinsTTG (p.Phe1506=) c.4388_4390delinsTTG (p.Phe1463=) c.4376_4378delinsTTG (p.Phe1459=) c.4349_4351delinsTTG (p.Phe1450=) n.4819_4821delinsTTG n.4821_4823delinsTTG c.4589_4591delinsTTG (p.Phe1530=) c.4697_4699delinsTTG (p.Phe1566=) n.4604_4606delinsTTG | |
11 | g.77198553_77198555del | CA912973125 | MYO7A | c.4500_4502del (p.Phe1500_Val1501delinsLeu) c.2341_2343del c.4467_4469del (p.Phe1489_Val1490delinsLeu) c.2043_2045del (p.Phe681_Val682delinsLeu) n.2153_2155del c.4608_4610del (p.Phe1536_Val1537delinsLeu) c.4518_4520del (p.Phe1506_Val1507delinsLeu) c.4389_4391del (p.Phe1463_Val1464delinsLeu) c.4377_4379del (p.Phe1459_Val1460delinsLeu) c.4350_4352del (p.Phe1450_Val1451delinsLeu) n.4820_4822del n.4822_4824del c.4590_4592del (p.Phe1530_Val1531delinsLeu) c.4698_4700del (p.Phe1566_Val1567delinsLeu) n.4605_4607del | |
11 | g.77198553T>A | CA381950320 | MYO7A | c.4500T>A (p.Phe1500Leu) c.2341T>A c.4467T>A (p.Phe1489Leu) c.2043T>A (p.Phe681Leu) n.2153T>A c.4608T>A (p.Phe1536Leu) c.4518T>A (p.Phe1506Leu) c.4389T>A (p.Phe1463Leu) c.4377T>A (p.Phe1459Leu) c.4350T>A (p.Phe1450Leu) n.4820T>A n.4822T>A c.4590T>A (p.Phe1530Leu) c.4698T>A (p.Phe1566Leu) n.4605T>A | |
11 | g.77198553T>C | CA475796396 | MYO7A | c.4500T>C (p.Phe1500=) c.2341T>C c.4467T>C (p.Phe1489=) c.2043T>C (p.Phe681=) n.2153T>C c.4608T>C (p.Phe1536=) c.4518T>C (p.Phe1506=) c.4389T>C (p.Phe1463=) c.4377T>C (p.Phe1459=) c.4350T>C (p.Phe1450=) n.4820T>C n.4822T>C c.4590T>C (p.Phe1530=) c.4698T>C (p.Phe1566=) n.4605T>C | gnomAD v4 |
11 | g.77198553T>G | CA381950321 | MYO7A | c.4500T>G (p.Phe1500Leu) c.2341T>G c.4467T>G (p.Phe1489Leu) c.2043T>G (p.Phe681Leu) n.2153T>G c.4608T>G (p.Phe1536Leu) c.4518T>G (p.Phe1506Leu) c.4389T>G (p.Phe1463Leu) c.4377T>G (p.Phe1459Leu) c.4350T>G (p.Phe1450Leu) n.4820T>G n.4822T>G c.4590T>G (p.Phe1530Leu) c.4698T>G (p.Phe1566Leu) n.4605T>G | |
11 | g.77198555_77198556del | CA658822317 | MYO7A | c.4502_4503del (p.Val1501GlyfsTer2) c.2343_2344del c.4469_4470del (p.Val1490GlyfsTer2) c.2045_2046del (p.Val682GlyfsTer2) n.2155_2156del c.4610_4611del (p.Val1537GlyfsTer2) c.4520_4521del (p.Val1507GlyfsTer2) c.4391_4392del (p.Val1464GlyfsTer2) c.4379_4380del (p.Val1460GlyfsTer2) c.4352_4353del (p.Val1451GlyfsTer2) n.4822_4823del n.4824_4825del c.4592_4593del (p.Val1531GlyfsTer2) c.4700_4701del (p.Val1567GlyfsTer2) n.4607_4608del | ClinVar dbSNP gnomAD v4 |
11 | g.77198554G>A | CA381950322 | MYO7A | c.4501G>A (p.Val1501Met) c.2342G>A c.4468G>A (p.Val1490Met) c.2044G>A (p.Val682Met) n.2154G>A c.4609G>A (p.Val1537Met) c.4519G>A (p.Val1507Met) c.4390G>A (p.Val1464Met) c.4378G>A (p.Val1460Met) c.4351G>A (p.Val1451Met) n.4821G>A n.4823G>A c.4591G>A (p.Val1531Met) c.4699G>A (p.Val1567Met) n.4606G>A | |
11 | g.77198554G>C | CA381950323 | MYO7A | c.4501G>C (p.Val1501Leu) c.2342G>C c.4468G>C (p.Val1490Leu) c.2044G>C (p.Val682Leu) n.2154G>C c.4609G>C (p.Val1537Leu) c.4519G>C (p.Val1507Leu) c.4390G>C (p.Val1464Leu) c.4378G>C (p.Val1460Leu) c.4351G>C (p.Val1451Leu) n.4821G>C n.4823G>C c.4591G>C (p.Val1531Leu) c.4699G>C (p.Val1567Leu) n.4606G>C | |
11 | g.77198554G>T | CA381950324 | MYO7A | c.4501G>T (p.Val1501Leu) c.2342G>T c.4468G>T (p.Val1490Leu) c.2044G>T (p.Val682Leu) n.2154G>T c.4609G>T (p.Val1537Leu) c.4519G>T (p.Val1507Leu) c.4390G>T (p.Val1464Leu) c.4378G>T (p.Val1460Leu) c.4351G>T (p.Val1451Leu) n.4821G>T n.4823G>T c.4591G>T (p.Val1531Leu) c.4699G>T (p.Val1567Leu) n.4606G>T | |
11 | g.77198555T>A | CA381950325 | MYO7A | c.4502T>A (p.Val1501Glu) c.2343T>A c.4469T>A (p.Val1490Glu) c.2045T>A (p.Val682Glu) n.2155T>A c.4610T>A (p.Val1537Glu) c.4520T>A (p.Val1507Glu) c.4391T>A (p.Val1464Glu) c.4379T>A (p.Val1460Glu) c.4352T>A (p.Val1451Glu) n.4822T>A n.4824T>A c.4592T>A (p.Val1531Glu) c.4700T>A (p.Val1567Glu) n.4607T>A | |
11 | g.77198555T>C | CA381950326 | MYO7A | c.4502T>C (p.Val1501Ala) c.2343T>C c.4469T>C (p.Val1490Ala) c.2045T>C (p.Val682Ala) n.2155T>C c.4610T>C (p.Val1537Ala) c.4520T>C (p.Val1507Ala) c.4391T>C (p.Val1464Ala) c.4379T>C (p.Val1460Ala) c.4352T>C (p.Val1451Ala) n.4822T>C n.4824T>C c.4592T>C (p.Val1531Ala) c.4700T>C (p.Val1567Ala) n.4607T>C | |
11 | g.77198555T>G | CA381950327 | MYO7A | c.4502T>G (p.Val1501Gly) c.2343T>G c.4469T>G (p.Val1490Gly) c.2045T>G (p.Val682Gly) n.2155T>G c.4610T>G (p.Val1537Gly) c.4520T>G (p.Val1507Gly) c.4391T>G (p.Val1464Gly) c.4379T>G (p.Val1460Gly) c.4352T>G (p.Val1451Gly) n.4822T>G n.4824T>G c.4592T>G (p.Val1531Gly) c.4700T>G (p.Val1567Gly) n.4607T>G | |
11 | g.77198556G>A | CA475796399 | MYO7A | c.4503G>A (p.Val1501=) c.2344G>A c.4470G>A (p.Val1490=) c.2046G>A (p.Val682=) n.2156G>A c.4611G>A (p.Val1537=) c.4521G>A (p.Val1507=) c.4392G>A (p.Val1464=) c.4380G>A (p.Val1460=) c.4353G>A (p.Val1451=) n.4823G>A n.4825G>A c.4593G>A (p.Val1531=) c.4701G>A (p.Val1567=) n.4608G>A | gnomAD v4 |
11 | g.77198556G>C | CA475796397 | MYO7A | c.4503G>C (p.Val1501=) c.2344G>C c.4470G>C (p.Val1490=) c.2046G>C (p.Val682=) n.2156G>C c.4611G>C (p.Val1537=) c.4521G>C (p.Val1507=) c.4392G>C (p.Val1464=) c.4380G>C (p.Val1460=) c.4353G>C (p.Val1451=) n.4823G>C n.4825G>C c.4593G>C (p.Val1531=) c.4701G>C (p.Val1567=) n.4608G>C | |
11 | g.77198556G>T | CA475796398 | MYO7A | c.4503G>T (p.Val1501=) c.2344G>T c.4470G>T (p.Val1490=) c.2046G>T (p.Val682=) n.2156G>T c.4611G>T (p.Val1537=) c.4521G>T (p.Val1507=) c.4392G>T (p.Val1464=) c.4380G>T (p.Val1460=) c.4353G>T (p.Val1451=) n.4823G>T n.4825G>T c.4593G>T (p.Val1531=) c.4701G>T (p.Val1567=) n.4608G>T | |
11 | g.77198557G>A | CA381950328 | MYO7A | c.4504G>A (p.Asp1502Asn) c.2345G>A c.4471G>A (p.Asp1491Asn) c.2047G>A (p.Asp683Asn) n.2157G>A c.4612G>A (p.Asp1538Asn) c.4522G>A (p.Asp1508Asn) c.4393G>A (p.Asp1465Asn) c.4381G>A (p.Asp1461Asn) c.4354G>A (p.Asp1452Asn) n.4824G>A n.4826G>A c.4594G>A (p.Asp1532Asn) c.4702G>A (p.Asp1568Asn) n.4609G>A | |
11 | g.77198557G>C | CA381950329 | MYO7A | c.4504G>C (p.Asp1502His) c.2345G>C c.4471G>C (p.Asp1491His) c.2047G>C (p.Asp683His) n.2157G>C c.4612G>C (p.Asp1538His) c.4522G>C (p.Asp1508His) c.4393G>C (p.Asp1465His) c.4381G>C (p.Asp1461His) c.4354G>C (p.Asp1452His) n.4824G>C n.4826G>C c.4594G>C (p.Asp1532His) c.4702G>C (p.Asp1568His) n.4609G>C | |
11 | g.77198557G>T | CA381950330 | MYO7A | c.4504G>T (p.Asp1502Tyr) c.2345G>T c.4471G>T (p.Asp1491Tyr) c.2047G>T (p.Asp683Tyr) n.2157G>T c.4612G>T (p.Asp1538Tyr) c.4522G>T (p.Asp1508Tyr) c.4393G>T (p.Asp1465Tyr) c.4381G>T (p.Asp1461Tyr) c.4354G>T (p.Asp1452Tyr) n.4824G>T n.4826G>T c.4594G>T (p.Asp1532Tyr) c.4702G>T (p.Asp1568Tyr) n.4609G>T | |
11 | g.77198558A= | CA1984121095 | MYO7A | c.4505A= (p.Asp1502=) c.2346A= c.4472A= (p.Asp1491=) c.2048A= (p.Asp683=) n.2158A= c.4613A= (p.Asp1538=) c.4523A= (p.Asp1508=) c.4394A= (p.Asp1465=) c.4382A= (p.Asp1461=) c.4355A= (p.Asp1452=) n.4825A= n.4827A= c.4595A= (p.Asp1532=) c.4703A= (p.Asp1568=) n.4610A= | |
11 | g.77198558A>C | CA381950331 | MYO7A | c.4505A>C (p.Asp1502Ala) c.2346A>C c.4472A>C (p.Asp1491Ala) c.2048A>C (p.Asp683Ala) n.2158A>C c.4613A>C (p.Asp1538Ala) c.4523A>C (p.Asp1508Ala) c.4394A>C (p.Asp1465Ala) c.4382A>C (p.Asp1461Ala) c.4355A>C (p.Asp1452Ala) n.4825A>C n.4827A>C c.4595A>C (p.Asp1532Ala) c.4703A>C (p.Asp1568Ala) n.4610A>C | |
11 | g.77198558A>G | CA6198464 | MYO7A | c.4505A>G (p.Asp1502Gly) c.2346A>G c.4472A>G (p.Asp1491Gly) c.2048A>G (p.Asp683Gly) n.2158A>G c.4613A>G (p.Asp1538Gly) c.4523A>G (p.Asp1508Gly) c.4394A>G (p.Asp1465Gly) c.4382A>G (p.Asp1461Gly) c.4355A>G (p.Asp1452Gly) n.4825A>G n.4827A>G c.4595A>G (p.Asp1532Gly) c.4703A>G (p.Asp1568Gly) n.4610A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198558A>T | CA381950332 | MYO7A | c.4505A>T (p.Asp1502Val) c.2346A>T c.4472A>T (p.Asp1491Val) c.2048A>T (p.Asp683Val) n.2158A>T c.4613A>T (p.Asp1538Val) c.4523A>T (p.Asp1508Val) c.4394A>T (p.Asp1465Val) c.4382A>T (p.Asp1461Val) c.4355A>T (p.Asp1452Val) n.4825A>T n.4827A>T c.4595A>T (p.Asp1532Val) c.4703A>T (p.Asp1568Val) n.4610A>T | |
11 | g.77198559T>A | CA381950333 | MYO7A | c.4506T>A (p.Asp1502Glu) c.2347T>A c.4473T>A (p.Asp1491Glu) c.2049T>A (p.Asp683Glu) n.2159T>A c.4614T>A (p.Asp1538Glu) c.4524T>A (p.Asp1508Glu) c.4395T>A (p.Asp1465Glu) c.4383T>A (p.Asp1461Glu) c.4356T>A (p.Asp1452Glu) n.4826T>A n.4828T>A c.4596T>A (p.Asp1532Glu) c.4704T>A (p.Asp1568Glu) n.4611T>A | |
11 | g.77198559T>C | CA475796400 | MYO7A | c.4506T>C (p.Asp1502=) c.2347T>C c.4473T>C (p.Asp1491=) c.2049T>C (p.Asp683=) n.2159T>C c.4614T>C (p.Asp1538=) c.4524T>C (p.Asp1508=) c.4395T>C (p.Asp1465=) c.4383T>C (p.Asp1461=) c.4356T>C (p.Asp1452=) n.4826T>C n.4828T>C c.4596T>C (p.Asp1532=) c.4704T>C (p.Asp1568=) n.4611T>C | ClinVar dbSNP |
11 | g.77198559T>G | CA381950334 | MYO7A | c.4506T>G (p.Asp1502Glu) c.2347T>G c.4473T>G (p.Asp1491Glu) c.2049T>G (p.Asp683Glu) n.2159T>G c.4614T>G (p.Asp1538Glu) c.4524T>G (p.Asp1508Glu) c.4395T>G (p.Asp1465Glu) c.4383T>G (p.Asp1461Glu) c.4356T>G (p.Asp1452Glu) n.4826T>G n.4828T>G c.4596T>G (p.Asp1532Glu) c.4704T>G (p.Asp1568Glu) n.4611T>G | |
11 | g.77198559T= | CA1984121107 | MYO7A | c.4506T= (p.Asp1502=) c.2347T= c.4473T= (p.Asp1491=) c.2049T= (p.Asp683=) n.2159T= c.4614T= (p.Asp1538=) c.4524T= (p.Asp1508=) c.4395T= (p.Asp1465=) c.4383T= (p.Asp1461=) c.4356T= (p.Asp1452=) n.4826T= n.4828T= c.4596T= (p.Asp1532=) c.4704T= (p.Asp1568=) n.4611T= | |
11 | g.77198560G>A | CA381950337 | MYO7A | c.4507G>A (p.Glu1503Lys) c.2348G>A c.4474G>A (p.Glu1492Lys) c.2050G>A (p.Glu684Lys) n.2160G>A c.4615G>A (p.Glu1539Lys) c.4525G>A (p.Glu1509Lys) c.4396G>A (p.Glu1466Lys) c.4384G>A (p.Glu1462Lys) c.4357G>A (p.Glu1453Lys) n.4827G>A n.4829G>A c.4597G>A (p.Glu1533Lys) c.4705G>A (p.Glu1569Lys) n.4612G>A | |
11 | g.77198560G>C | CA381950336 | MYO7A | c.4507G>C (p.Glu1503Gln) c.2348G>C c.4474G>C (p.Glu1492Gln) c.2050G>C (p.Glu684Gln) n.2160G>C c.4615G>C (p.Glu1539Gln) c.4525G>C (p.Glu1509Gln) c.4396G>C (p.Glu1466Gln) c.4384G>C (p.Glu1462Gln) c.4357G>C (p.Glu1453Gln) n.4827G>C n.4829G>C c.4597G>C (p.Glu1533Gln) c.4705G>C (p.Glu1569Gln) n.4612G>C | |
11 | g.77198560G= | CA1984121109 | MYO7A | c.4507G= (p.Glu1503=) c.2348G= c.4474G= (p.Glu1492=) c.2050G= (p.Glu684=) n.2160G= c.4615G= (p.Glu1539=) c.4525G= (p.Glu1509=) c.4396G= (p.Glu1466=) c.4384G= (p.Glu1462=) c.4357G= (p.Glu1453=) n.4827G= n.4829G= c.4597G= (p.Glu1533=) c.4705G= (p.Glu1569=) n.4612G= | |
11 | g.77198560G>T | CA381950335 | MYO7A | c.4507G>T (p.Glu1503Ter) c.2348G>T c.4474G>T (p.Glu1492Ter) c.2050G>T (p.Glu684Ter) n.2160G>T c.4615G>T (p.Glu1539Ter) c.4525G>T (p.Glu1509Ter) c.4396G>T (p.Glu1466Ter) c.4384G>T (p.Glu1462Ter) c.4357G>T (p.Glu1453Ter) n.4827G>T n.4829G>T c.4597G>T (p.Glu1533Ter) c.4705G>T (p.Glu1569Ter) n.4612G>T | ClinVar dbSNP |
11 | g.77198561A>C | CA381950338 | MYO7A | c.4508A>C (p.Glu1503Ala) c.2349A>C c.4475A>C (p.Glu1492Ala) c.2051A>C (p.Glu684Ala) n.2161A>C c.4616A>C (p.Glu1539Ala) c.4526A>C (p.Glu1509Ala) c.4397A>C (p.Glu1466Ala) c.4385A>C (p.Glu1462Ala) c.4358A>C (p.Glu1453Ala) n.4828A>C n.4830A>C c.4598A>C (p.Glu1533Ala) c.4706A>C (p.Glu1569Ala) n.4613A>C | |
11 | g.77198561A>G | CA381950339 | MYO7A | c.4508A>G (p.Glu1503Gly) c.2349A>G c.4475A>G (p.Glu1492Gly) c.2051A>G (p.Glu684Gly) n.2161A>G c.4616A>G (p.Glu1539Gly) c.4526A>G (p.Glu1509Gly) c.4397A>G (p.Glu1466Gly) c.4385A>G (p.Glu1462Gly) c.4358A>G (p.Glu1453Gly) n.4828A>G n.4830A>G c.4598A>G (p.Glu1533Gly) c.4706A>G (p.Glu1569Gly) n.4613A>G | |
11 | g.77198561A>T | CA381950340 | MYO7A | c.4508A>T (p.Glu1503Val) c.2349A>T c.4475A>T (p.Glu1492Val) c.2051A>T (p.Glu684Val) n.2161A>T c.4616A>T (p.Glu1539Val) c.4526A>T (p.Glu1509Val) c.4397A>T (p.Glu1466Val) c.4385A>T (p.Glu1462Val) c.4358A>T (p.Glu1453Val) n.4828A>T n.4830A>T c.4598A>T (p.Glu1533Val) c.4706A>T (p.Glu1569Val) n.4613A>T | |
11 | g.77198562G>A | CA475796401 | MYO7A | c.4509G>A (p.Glu1503=) c.2350G>A c.4476G>A (p.Glu1492=) c.2052G>A (p.Glu684=) n.2162G>A c.4617G>A (p.Glu1539=) c.4527G>A (p.Glu1509=) c.4398G>A (p.Glu1466=) c.4386G>A (p.Glu1462=) c.4359G>A (p.Glu1453=) n.4829G>A n.4831G>A c.4599G>A (p.Glu1533=) c.4707G>A (p.Glu1569=) n.4614G>A | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.77198562G>C | CA381950341 | MYO7A | c.4509G>C (p.Glu1503Asp) c.2350G>C c.4476G>C (p.Glu1492Asp) c.2052G>C (p.Glu684Asp) n.2162G>C c.4617G>C (p.Glu1539Asp) c.4527G>C (p.Glu1509Asp) c.4398G>C (p.Glu1466Asp) c.4386G>C (p.Glu1462Asp) c.4359G>C (p.Glu1453Asp) n.4829G>C n.4831G>C c.4599G>C (p.Glu1533Asp) c.4707G>C (p.Glu1569Asp) n.4614G>C | |
11 | g.77198562G>T | CA381950342 | MYO7A | c.4509G>T (p.Glu1503Asp) c.2350G>T c.4476G>T (p.Glu1492Asp) c.2052G>T (p.Glu684Asp) n.2162G>T c.4617G>T (p.Glu1539Asp) c.4527G>T (p.Glu1509Asp) c.4398G>T (p.Glu1466Asp) c.4386G>T (p.Glu1462Asp) c.4359G>T (p.Glu1453Asp) n.4829G>T n.4831G>T c.4599G>T (p.Glu1533Asp) c.4707G>T (p.Glu1569Asp) n.4614G>T | |
11 | g.77198563C>A | CA381950343 | MYO7A | c.4510C>A (p.Gln1504Lys) c.2351C>A c.4477C>A (p.Gln1493Lys) c.2053C>A (p.Gln685Lys) n.2163C>A c.4618C>A (p.Gln1540Lys) c.4528C>A (p.Gln1510Lys) c.4399C>A (p.Gln1467Lys) c.4387C>A (p.Gln1463Lys) c.4360C>A (p.Gln1454Lys) n.4830C>A n.4832C>A c.4600C>A (p.Gln1534Lys) c.4708C>A (p.Gln1570Lys) n.4615C>A | |
11 | g.77198563C= | CA1984121112 | MYO7A | c.4510C= (p.Gln1504=) c.2351C= c.4477C= (p.Gln1493=) c.2053C= (p.Gln685=) n.2163C= c.4618C= (p.Gln1540=) c.4528C= (p.Gln1510=) c.4399C= (p.Gln1467=) c.4387C= (p.Gln1463=) c.4360C= (p.Gln1454=) n.4830C= n.4832C= c.4600C= (p.Gln1534=) c.4708C= (p.Gln1570=) n.4615C= | |
11 | g.77198563C>G | CA381950344 | MYO7A | c.4510C>G (p.Gln1504Glu) c.2351C>G c.4477C>G (p.Gln1493Glu) c.2053C>G (p.Gln685Glu) n.2163C>G c.4618C>G (p.Gln1540Glu) c.4528C>G (p.Gln1510Glu) c.4399C>G (p.Gln1467Glu) c.4387C>G (p.Gln1463Glu) c.4360C>G (p.Gln1454Glu) n.4830C>G n.4832C>G c.4600C>G (p.Gln1534Glu) c.4708C>G (p.Gln1570Glu) n.4615C>G | |
11 | g.77198563C>T | CA381950345 | MYO7A | c.4510C>T (p.Gln1504Ter) c.2351C>T c.4477C>T (p.Gln1493Ter) c.2053C>T (p.Gln685Ter) n.2163C>T c.4618C>T (p.Gln1540Ter) c.4528C>T (p.Gln1510Ter) c.4399C>T (p.Gln1467Ter) c.4387C>T (p.Gln1463Ter) c.4360C>T (p.Gln1454Ter) n.4830C>T n.4832C>T c.4600C>T (p.Gln1534Ter) c.4708C>T (p.Gln1570Ter) n.4615C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77198564A>C | CA381950346 | MYO7A | c.4511A>C (p.Gln1504Pro) c.2352A>C c.4478A>C (p.Gln1493Pro) c.2054A>C (p.Gln685Pro) n.2164A>C c.4619A>C (p.Gln1540Pro) c.4529A>C (p.Gln1510Pro) c.4400A>C (p.Gln1467Pro) c.4388A>C (p.Gln1463Pro) c.4361A>C (p.Gln1454Pro) n.4831A>C n.4833A>C c.4601A>C (p.Gln1534Pro) c.4709A>C (p.Gln1570Pro) n.4616A>C | |
11 | g.77198564A>G | CA381950347 | MYO7A | c.4511A>G (p.Gln1504Arg) c.2352A>G c.4478A>G (p.Gln1493Arg) c.2054A>G (p.Gln685Arg) n.2164A>G c.4619A>G (p.Gln1540Arg) c.4529A>G (p.Gln1510Arg) c.4400A>G (p.Gln1467Arg) c.4388A>G (p.Gln1463Arg) c.4361A>G (p.Gln1454Arg) n.4831A>G n.4833A>G c.4601A>G (p.Gln1534Arg) c.4709A>G (p.Gln1570Arg) n.4616A>G | gnomAD v4 |
11 | g.77198564A>T | CA381950348 | MYO7A | c.4511A>T (p.Gln1504Leu) c.2352A>T c.4478A>T (p.Gln1493Leu) c.2054A>T (p.Gln685Leu) n.2164A>T c.4619A>T (p.Gln1540Leu) c.4529A>T (p.Gln1510Leu) c.4400A>T (p.Gln1467Leu) c.4388A>T (p.Gln1463Leu) c.4361A>T (p.Gln1454Leu) n.4831A>T n.4833A>T c.4601A>T (p.Gln1534Leu) c.4709A>T (p.Gln1570Leu) n.4616A>T | |
11 | g.77198565G>A | CA6198465 | MYO7A | c.4512G>A (p.Gln1504=) c.2353G>A c.4479G>A (p.Gln1493=) c.2055G>A (p.Gln685=) n.2165G>A c.4620G>A (p.Gln1540=) c.4530G>A (p.Gln1510=) c.4401G>A (p.Gln1467=) c.4389G>A (p.Gln1463=) c.4362G>A (p.Gln1454=) n.4832G>A n.4834G>A c.4602G>A (p.Gln1534=) c.4710G>A (p.Gln1570=) n.4617G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198565G>C | CA381950349 | MYO7A | c.4512G>C (p.Gln1504His) c.2353G>C c.4479G>C (p.Gln1493His) c.2055G>C (p.Gln685His) n.2165G>C c.4620G>C (p.Gln1540His) c.4530G>C (p.Gln1510His) c.4401G>C (p.Gln1467His) c.4389G>C (p.Gln1463His) c.4362G>C (p.Gln1454His) n.4832G>C n.4834G>C c.4602G>C (p.Gln1534His) c.4710G>C (p.Gln1570His) n.4617G>C | |
11 | g.77198565G= | CA1984121114 | MYO7A | c.4512G= (p.Gln1504=) c.2353G= c.4479G= (p.Gln1493=) c.2055G= (p.Gln685=) n.2165G= c.4620G= (p.Gln1540=) c.4530G= (p.Gln1510=) c.4401G= (p.Gln1467=) c.4389G= (p.Gln1463=) c.4362G= (p.Gln1454=) n.4832G= n.4834G= c.4602G= (p.Gln1534=) c.4710G= (p.Gln1570=) n.4617G= | |
11 | g.77198565G>T | CA381950350 | MYO7A | c.4512G>T (p.Gln1504His) c.2353G>T c.4479G>T (p.Gln1493His) c.2055G>T (p.Gln685His) n.2165G>T c.4620G>T (p.Gln1540His) c.4530G>T (p.Gln1510His) c.4401G>T (p.Gln1467His) c.4389G>T (p.Gln1463His) c.4362G>T (p.Gln1454His) n.4832G>T n.4834G>T c.4602G>T (p.Gln1534His) c.4710G>T (p.Gln1570His) n.4617G>T | |
11 | g.77198566G>A | CA381950352 | MYO7A | c.4513G>A (p.Glu1505Lys) c.2354G>A c.4480G>A (p.Glu1494Lys) c.2056G>A (p.Glu686Lys) n.2166G>A c.4621G>A (p.Glu1541Lys) c.4531G>A (p.Glu1511Lys) c.4402G>A (p.Glu1468Lys) c.4390G>A (p.Glu1464Lys) c.4363G>A (p.Glu1455Lys) n.4833G>A n.4835G>A c.4603G>A (p.Glu1535Lys) c.4711G>A (p.Glu1571Lys) n.4618G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77198566G>C | CA381950353 | MYO7A | c.4513G>C (p.Glu1505Gln) c.2354G>C c.4480G>C (p.Glu1494Gln) c.2056G>C (p.Glu686Gln) n.2166G>C c.4621G>C (p.Glu1541Gln) c.4531G>C (p.Glu1511Gln) c.4402G>C (p.Glu1468Gln) c.4390G>C (p.Glu1464Gln) c.4363G>C (p.Glu1455Gln) n.4833G>C n.4835G>C c.4603G>C (p.Glu1535Gln) c.4711G>C (p.Glu1571Gln) n.4618G>C | |
11 | g.77198566G= | CA1984121118 | MYO7A | c.4513G= (p.Glu1505=) c.2354G= c.4480G= (p.Glu1494=) c.2056G= (p.Glu686=) n.2166G= c.4621G= (p.Glu1541=) c.4531G= (p.Glu1511=) c.4402G= (p.Glu1468=) c.4390G= (p.Glu1464=) c.4363G= (p.Glu1455=) n.4833G= n.4835G= c.4603G= (p.Glu1535=) c.4711G= (p.Glu1571=) n.4618G= | |
11 | g.77198566G>T | CA381950351 | MYO7A | c.4513G>T (p.Glu1505Ter) c.2354G>T c.4480G>T (p.Glu1494Ter) c.2056G>T (p.Glu686Ter) n.2166G>T c.4621G>T (p.Glu1541Ter) c.4531G>T (p.Glu1511Ter) c.4402G>T (p.Glu1468Ter) c.4390G>T (p.Glu1464Ter) c.4363G>T (p.Glu1455Ter) n.4833G>T n.4835G>T c.4603G>T (p.Glu1535Ter) c.4711G>T (p.Glu1571Ter) n.4618G>T | |
11 | g.77198567A>C | CA381950354 | MYO7A | c.4514A>C (p.Glu1505Ala) c.2355A>C c.4481A>C (p.Glu1494Ala) c.2057A>C (p.Glu686Ala) n.2167A>C c.4622A>C (p.Glu1541Ala) c.4532A>C (p.Glu1511Ala) c.4403A>C (p.Glu1468Ala) c.4391A>C (p.Glu1464Ala) c.4364A>C (p.Glu1455Ala) n.4834A>C n.4836A>C c.4604A>C (p.Glu1535Ala) c.4712A>C (p.Glu1571Ala) n.4619A>C | |
11 | g.77198567A>G | CA381950355 | MYO7A | c.4514A>G (p.Glu1505Gly) c.2355A>G c.4481A>G (p.Glu1494Gly) c.2057A>G (p.Glu686Gly) n.2167A>G c.4622A>G (p.Glu1541Gly) c.4532A>G (p.Glu1511Gly) c.4403A>G (p.Glu1468Gly) c.4391A>G (p.Glu1464Gly) c.4364A>G (p.Glu1455Gly) n.4834A>G n.4836A>G c.4604A>G (p.Glu1535Gly) c.4712A>G (p.Glu1571Gly) n.4619A>G | |
11 | g.77198567A>T | CA381950356 | MYO7A | c.4514A>T (p.Glu1505Val) c.2355A>T c.4481A>T (p.Glu1494Val) c.2057A>T (p.Glu686Val) n.2167A>T c.4622A>T (p.Glu1541Val) c.4532A>T (p.Glu1511Val) c.4403A>T (p.Glu1468Val) c.4391A>T (p.Glu1464Val) c.4364A>T (p.Glu1455Val) n.4834A>T n.4836A>T c.4604A>T (p.Glu1535Val) c.4712A>T (p.Glu1571Val) n.4619A>T | |
11 | g.77198568G>A | CA475796402 | MYO7A | c.4515G>A (p.Glu1505=) c.2356G>A c.4482G>A (p.Glu1494=) c.2058G>A (p.Glu686=) n.2168G>A c.4623G>A (p.Glu1541=) c.4533G>A (p.Glu1511=) c.4404G>A (p.Glu1468=) c.4392G>A (p.Glu1464=) c.4365G>A (p.Glu1455=) n.4835G>A n.4837G>A c.4605G>A (p.Glu1535=) c.4713G>A (p.Glu1571=) n.4620G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77198568G>C | CA381950357 | MYO7A | c.4515G>C (p.Glu1505Asp) c.2356G>C c.4482G>C (p.Glu1494Asp) c.2058G>C (p.Glu686Asp) n.2168G>C c.4623G>C (p.Glu1541Asp) c.4533G>C (p.Glu1511Asp) c.4404G>C (p.Glu1468Asp) c.4392G>C (p.Glu1464Asp) c.4365G>C (p.Glu1455Asp) n.4835G>C n.4837G>C c.4605G>C (p.Glu1535Asp) c.4713G>C (p.Glu1571Asp) n.4620G>C | |
11 | g.77198568G= | CA1984121122 | MYO7A | c.4515G= (p.Glu1505=) c.2356G= c.4482G= (p.Glu1494=) c.2058G= (p.Glu686=) n.2168G= c.4623G= (p.Glu1541=) c.4533G= (p.Glu1511=) c.4404G= (p.Glu1468=) c.4392G= (p.Glu1464=) c.4365G= (p.Glu1455=) n.4835G= n.4837G= c.4605G= (p.Glu1535=) c.4713G= (p.Glu1571=) n.4620G= | |
11 | g.77198568G>T | CA381950358 | MYO7A | c.4515G>T (p.Glu1505Asp) c.2356G>T c.4482G>T (p.Glu1494Asp) c.2058G>T (p.Glu686Asp) n.2168G>T c.4623G>T (p.Glu1541Asp) c.4533G>T (p.Glu1511Asp) c.4404G>T (p.Glu1468Asp) c.4392G>T (p.Glu1464Asp) c.4365G>T (p.Glu1455Asp) n.4835G>T n.4837G>T c.4605G>T (p.Glu1535Asp) c.4713G>T (p.Glu1571Asp) n.4620G>T | |
11 | g.77198569C>A | CA381950359 | MYO7A | c.4516C>A (p.Gln1506Lys) c.2357C>A c.4483C>A (p.Gln1495Lys) c.2059C>A (p.Gln687Lys) n.2169C>A c.4624C>A (p.Gln1542Lys) c.4534C>A (p.Gln1512Lys) c.4405C>A (p.Gln1469Lys) c.4393C>A (p.Gln1465Lys) c.4366C>A (p.Gln1456Lys) n.4836C>A n.4838C>A c.4606C>A (p.Gln1536Lys) c.4714C>A (p.Gln1572Lys) n.4621C>A | |
11 | g.77198569C= | CA1984121125 | MYO7A | c.4516C= (p.Gln1506=) c.2357C= c.4483C= (p.Gln1495=) c.2059C= (p.Gln687=) n.2169C= c.4624C= (p.Gln1542=) c.4534C= (p.Gln1512=) c.4405C= (p.Gln1469=) c.4393C= (p.Gln1465=) c.4366C= (p.Gln1456=) n.4836C= n.4838C= c.4606C= (p.Gln1536=) c.4714C= (p.Gln1572=) n.4621C= | |
11 | g.77198569C>G | CA381950360 | MYO7A | c.4516C>G (p.Gln1506Glu) c.2357C>G c.4483C>G (p.Gln1495Glu) c.2059C>G (p.Gln687Glu) n.2169C>G c.4624C>G (p.Gln1542Glu) c.4534C>G (p.Gln1512Glu) c.4405C>G (p.Gln1469Glu) c.4393C>G (p.Gln1465Glu) c.4366C>G (p.Gln1456Glu) n.4836C>G n.4838C>G c.4606C>G (p.Gln1536Glu) c.4714C>G (p.Gln1572Glu) n.4621C>G | |
11 | g.77198569C>T | CA224848786 | MYO7A | c.4516C>T (p.Gln1506Ter) c.2357C>T c.4483C>T (p.Gln1495Ter) c.2059C>T (p.Gln687Ter) n.2169C>T c.4624C>T (p.Gln1542Ter) c.4534C>T (p.Gln1512Ter) c.4405C>T (p.Gln1469Ter) c.4393C>T (p.Gln1465Ter) c.4366C>T (p.Gln1456Ter) n.4836C>T n.4838C>T c.4606C>T (p.Gln1536Ter) c.4714C>T (p.Gln1572Ter) n.4621C>T | dbSNP gnomAD v4 |
11 | g.77198570A= | CA1984121133 | MYO7A | c.4517A= (p.Gln1506=) c.2358A= c.4484A= (p.Gln1495=) c.2060A= (p.Gln687=) n.2170A= c.4625A= (p.Gln1542=) c.4535A= (p.Gln1512=) c.4406A= (p.Gln1469=) c.4394A= (p.Gln1465=) c.4367A= (p.Gln1456=) n.4837A= n.4839A= c.4607A= (p.Gln1536=) c.4715A= (p.Gln1572=) n.4622A= | |
11 | g.77198570A>C | CA381950361 | MYO7A | c.4517A>C (p.Gln1506Pro) c.2358A>C c.4484A>C (p.Gln1495Pro) c.2060A>C (p.Gln687Pro) n.2170A>C c.4625A>C (p.Gln1542Pro) c.4535A>C (p.Gln1512Pro) c.4406A>C (p.Gln1469Pro) c.4394A>C (p.Gln1465Pro) c.4367A>C (p.Gln1456Pro) n.4837A>C n.4839A>C c.4607A>C (p.Gln1536Pro) c.4715A>C (p.Gln1572Pro) n.4622A>C | gnomAD v4 |
11 | g.77198570A>G | CA381950362 | MYO7A | c.4517A>G (p.Gln1506Arg) c.2358A>G c.4484A>G (p.Gln1495Arg) c.2060A>G (p.Gln687Arg) n.2170A>G c.4625A>G (p.Gln1542Arg) c.4535A>G (p.Gln1512Arg) c.4406A>G (p.Gln1469Arg) c.4394A>G (p.Gln1465Arg) c.4367A>G (p.Gln1456Arg) n.4837A>G n.4839A>G c.4607A>G (p.Gln1536Arg) c.4715A>G (p.Gln1572Arg) n.4622A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77198570A>T | CA381950363 | MYO7A | c.4517A>T (p.Gln1506Leu) c.2358A>T c.4484A>T (p.Gln1495Leu) c.2060A>T (p.Gln687Leu) n.2170A>T c.4625A>T (p.Gln1542Leu) c.4535A>T (p.Gln1512Leu) c.4406A>T (p.Gln1469Leu) c.4394A>T (p.Gln1465Leu) c.4367A>T (p.Gln1456Leu) n.4837A>T n.4839A>T c.4607A>T (p.Gln1536Leu) c.4715A>T (p.Gln1572Leu) n.4622A>T | |
11 | g.77198571G>A | CA475796403 | MYO7A | c.4518G>A (p.Gln1506=) c.2359G>A c.4485G>A (p.Gln1495=) c.2061G>A (p.Gln687=) n.2171G>A c.4626G>A (p.Gln1542=) c.4536G>A (p.Gln1512=) c.4407G>A (p.Gln1469=) c.4395G>A (p.Gln1465=) c.4368G>A (p.Gln1456=) n.4838G>A n.4840G>A c.4608G>A (p.Gln1536=) c.4716G>A (p.Gln1572=) n.4623G>A | gnomAD v4 |
11 | g.77198571G>C | CA381950364 | MYO7A | c.4518G>C (p.Gln1506His) c.2359G>C c.4485G>C (p.Gln1495His) c.2061G>C (p.Gln687His) n.2171G>C c.4626G>C (p.Gln1542His) c.4536G>C (p.Gln1512His) c.4407G>C (p.Gln1469His) c.4395G>C (p.Gln1465His) c.4368G>C (p.Gln1456His) n.4838G>C n.4840G>C c.4608G>C (p.Gln1536His) c.4716G>C (p.Gln1572His) n.4623G>C | |
11 | g.77198571G>T | CA381950365 | MYO7A | c.4518G>T (p.Gln1506His) c.2359G>T c.4485G>T (p.Gln1495His) c.2061G>T (p.Gln687His) n.2171G>T c.4626G>T (p.Gln1542His) c.4536G>T (p.Gln1512His) c.4407G>T (p.Gln1469His) c.4395G>T (p.Gln1465His) c.4368G>T (p.Gln1456His) n.4838G>T n.4840G>T c.4608G>T (p.Gln1536His) c.4716G>T (p.Gln1572His) n.4623G>T | |
11 | g.77198572G>A | CA6198466 | MYO7A | c.4519G>A (p.Val1507Ile) c.2360G>A c.4486G>A (p.Val1496Ile) c.2062G>A (p.Val688Ile) n.2172G>A c.4627G>A (p.Val1543Ile) c.4537G>A (p.Val1513Ile) c.4408G>A (p.Val1470Ile) c.4396G>A (p.Val1466Ile) c.4369G>A (p.Val1457Ile) n.4839G>A n.4841G>A c.4609G>A (p.Val1537Ile) c.4717G>A (p.Val1573Ile) n.4624G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77198572G>C | CA381950366 | MYO7A | c.4519G>C (p.Val1507Leu) c.2360G>C c.4486G>C (p.Val1496Leu) c.2062G>C (p.Val688Leu) n.2172G>C c.4627G>C (p.Val1543Leu) c.4537G>C (p.Val1513Leu) c.4408G>C (p.Val1470Leu) c.4396G>C (p.Val1466Leu) c.4369G>C (p.Val1457Leu) n.4839G>C n.4841G>C c.4609G>C (p.Val1537Leu) c.4717G>C (p.Val1573Leu) n.4624G>C | gnomAD v4 |
11 | g.77198572G= | CA1984121140 | MYO7A | c.4519G= (p.Val1507=) c.2360G= c.4486G= (p.Val1496=) c.2062G= (p.Val688=) n.2172G= c.4627G= (p.Val1543=) c.4537G= (p.Val1513=) c.4408G= (p.Val1470=) c.4396G= (p.Val1466=) c.4369G= (p.Val1457=) n.4839G= n.4841G= c.4609G= (p.Val1537=) c.4717G= (p.Val1573=) n.4624G= | |
11 | g.77198572G>T | CA381950367 | MYO7A | c.4519G>T (p.Val1507Leu) c.2360G>T c.4486G>T (p.Val1496Leu) c.2062G>T (p.Val688Leu) n.2172G>T c.4627G>T (p.Val1543Leu) c.4537G>T (p.Val1513Leu) c.4408G>T (p.Val1470Leu) c.4396G>T (p.Val1466Leu) c.4369G>T (p.Val1457Leu) n.4839G>T n.4841G>T c.4609G>T (p.Val1537Leu) c.4717G>T (p.Val1573Leu) n.4624G>T | |
11 | g.77198573T>A | CA381950368 | MYO7A | c.4520T>A (p.Val1507Glu) c.2361T>A c.4487T>A (p.Val1496Glu) c.2063T>A (p.Val688Glu) n.2173T>A c.4628T>A (p.Val1543Glu) c.4538T>A (p.Val1513Glu) c.4409T>A (p.Val1470Glu) c.4397T>A (p.Val1466Glu) c.4370T>A (p.Val1457Glu) n.4840T>A n.4842T>A c.4610T>A (p.Val1537Glu) c.4718T>A (p.Val1573Glu) n.4625T>A | |
11 | g.77198573T>C | CA381950369 | MYO7A | c.4520T>C (p.Val1507Ala) c.2361T>C c.4487T>C (p.Val1496Ala) c.2063T>C (p.Val688Ala) n.2173T>C c.4628T>C (p.Val1543Ala) c.4538T>C (p.Val1513Ala) c.4409T>C (p.Val1470Ala) c.4397T>C (p.Val1466Ala) c.4370T>C (p.Val1457Ala) n.4840T>C n.4842T>C c.4610T>C (p.Val1537Ala) c.4718T>C (p.Val1573Ala) n.4625T>C | dbSNP |
11 | g.77198573T>G | CA381950370 | MYO7A | c.4520T>G (p.Val1507Gly) c.2361T>G c.4487T>G (p.Val1496Gly) c.2063T>G (p.Val688Gly) n.2173T>G c.4628T>G (p.Val1543Gly) c.4538T>G (p.Val1513Gly) c.4409T>G (p.Val1470Gly) c.4397T>G (p.Val1466Gly) c.4370T>G (p.Val1457Gly) n.4840T>G n.4842T>G c.4610T>G (p.Val1537Gly) c.4718T>G (p.Val1573Gly) n.4625T>G | |
11 | g.77198573T= | CA1984121143 | MYO7A | c.4520T= (p.Val1507=) c.2361T= c.4487T= (p.Val1496=) c.2063T= (p.Val688=) n.2173T= c.4628T= (p.Val1543=) c.4538T= (p.Val1513=) c.4409T= (p.Val1470=) c.4397T= (p.Val1466=) c.4370T= (p.Val1457=) n.4840T= n.4842T= c.4610T= (p.Val1537=) c.4718T= (p.Val1573=) n.4625T= | |
11 | g.77198574A>C | CA475796404 | MYO7A | c.4521A>C (p.Val1507=) c.2362A>C c.4488A>C (p.Val1496=) c.2064A>C (p.Val688=) n.2174A>C c.4629A>C (p.Val1543=) c.4539A>C (p.Val1513=) c.4410A>C (p.Val1470=) c.4398A>C (p.Val1466=) c.4371A>C (p.Val1457=) n.4841A>C n.4843A>C c.4611A>C (p.Val1537=) c.4719A>C (p.Val1573=) n.4626A>C | |
11 | g.77198574A>G | CA475796405 | MYO7A | c.4521A>G (p.Val1507=) c.2362A>G c.4488A>G (p.Val1496=) c.2064A>G (p.Val688=) n.2174A>G c.4629A>G (p.Val1543=) c.4539A>G (p.Val1513=) c.4410A>G (p.Val1470=) c.4398A>G (p.Val1466=) c.4371A>G (p.Val1457=) n.4841A>G n.4843A>G c.4611A>G (p.Val1537=) c.4719A>G (p.Val1573=) n.4626A>G | ClinVar dbSNP |
11 | g.77198574A>T | CA475796406 | MYO7A | c.4521A>T (p.Val1507=) c.2362A>T c.4488A>T (p.Val1496=) c.2064A>T (p.Val688=) n.2174A>T c.4629A>T (p.Val1543=) c.4539A>T (p.Val1513=) c.4410A>T (p.Val1470=) c.4398A>T (p.Val1466=) c.4371A>T (p.Val1457=) n.4841A>T n.4843A>T c.4611A>T (p.Val1537=) c.4719A>T (p.Val1573=) n.4626A>T | |
11 | g.77198574_77198575del | CA2499221335 | MYO7A | c.4521_4522del (p.Leu1508SerfsTer27) c.2362_2363del c.4488_4489del (p.Leu1497SerfsTer?) c.2064_2065del (p.Leu689SerfsTer?) c.4521_4522del (p.Leu1508SerfsTer?) n.2174_2175del c.4629_4630del (p.Leu1544SerfsTer?) c.4488_4489del (p.Leu1497SerfsTer27) c.4539_4540del (p.Leu1514SerfsTer?) c.4410_4411del (p.Leu1471SerfsTer?) c.4398_4399del (p.Leu1467SerfsTer?) c.4371_4372del (p.Leu1458SerfsTer?) n.4841_4842del n.4843_4844del c.4611_4612del (p.Leu1538SerfsTer27) c.4719_4720del (p.Leu1574SerfsTer?) c.4611_4612del (p.Leu1538SerfsTer?) n.4626_4627del | ClinVar dbSNP |
11 | g.77198575C>A | CA381950371 | MYO7A | c.4522C>A (p.Leu1508Ile) c.2363C>A c.4489C>A (p.Leu1497Ile) c.2065C>A (p.Leu689Ile) n.2175C>A c.4630C>A (p.Leu1544Ile) c.4540C>A (p.Leu1514Ile) c.4411C>A (p.Leu1471Ile) c.4399C>A (p.Leu1467Ile) c.4372C>A (p.Leu1458Ile) n.4842C>A n.4844C>A c.4612C>A (p.Leu1538Ile) c.4720C>A (p.Leu1574Ile) n.4627C>A | |
11 | g.77198575C= | CA1984121146 | MYO7A | c.4522C= (p.Leu1508=) c.2363C= c.4489C= (p.Leu1497=) c.2065C= (p.Leu689=) n.2175C= c.4630C= (p.Leu1544=) c.4540C= (p.Leu1514=) c.4411C= (p.Leu1471=) c.4399C= (p.Leu1467=) c.4372C= (p.Leu1458=) n.4842C= n.4844C= c.4612C= (p.Leu1538=) c.4720C= (p.Leu1574=) n.4627C= | |
11 | g.77198575C>G | CA381950372 | MYO7A | c.4522C>G (p.Leu1508Val) c.2363C>G c.4489C>G (p.Leu1497Val) c.2065C>G (p.Leu689Val) n.2175C>G c.4630C>G (p.Leu1544Val) c.4540C>G (p.Leu1514Val) c.4411C>G (p.Leu1471Val) c.4399C>G (p.Leu1467Val) c.4372C>G (p.Leu1458Val) n.4842C>G n.4844C>G c.4612C>G (p.Leu1538Val) c.4720C>G (p.Leu1574Val) n.4627C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198575C>T | CA381950373 | MYO7A | c.4522C>T (p.Leu1508Phe) c.2363C>T c.4489C>T (p.Leu1497Phe) c.2065C>T (p.Leu689Phe) n.2175C>T c.4630C>T (p.Leu1544Phe) c.4540C>T (p.Leu1514Phe) c.4411C>T (p.Leu1471Phe) c.4399C>T (p.Leu1467Phe) c.4372C>T (p.Leu1458Phe) n.4842C>T n.4844C>T c.4612C>T (p.Leu1538Phe) c.4720C>T (p.Leu1574Phe) n.4627C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.77198576T>A | CA381950374 | MYO7A | c.4523T>A (p.Leu1508His) c.2364T>A c.4490T>A (p.Leu1497His) c.2066T>A (p.Leu689His) n.2176T>A c.4631T>A (p.Leu1544His) c.4541T>A (p.Leu1514His) c.4412T>A (p.Leu1471His) c.4400T>A (p.Leu1467His) c.4373T>A (p.Leu1458His) n.4843T>A n.4845T>A c.4613T>A (p.Leu1538His) c.4721T>A (p.Leu1574His) n.4628T>A | |
11 | g.77198576T>C | CA381950375 | MYO7A | c.4523T>C (p.Leu1508Pro) c.2364T>C c.4490T>C (p.Leu1497Pro) c.2066T>C (p.Leu689Pro) n.2176T>C c.4631T>C (p.Leu1544Pro) c.4541T>C (p.Leu1514Pro) c.4412T>C (p.Leu1471Pro) c.4400T>C (p.Leu1467Pro) c.4373T>C (p.Leu1458Pro) n.4843T>C n.4845T>C c.4613T>C (p.Leu1538Pro) c.4721T>C (p.Leu1574Pro) n.4628T>C | gnomAD v4 |
11 | g.77198576T>G | CA381950376 | MYO7A | c.4523T>G (p.Leu1508Arg) c.2364T>G c.4490T>G (p.Leu1497Arg) c.2066T>G (p.Leu689Arg) n.2176T>G c.4631T>G (p.Leu1544Arg) c.4541T>G (p.Leu1514Arg) c.4412T>G (p.Leu1471Arg) c.4400T>G (p.Leu1467Arg) c.4373T>G (p.Leu1458Arg) n.4843T>G n.4845T>G c.4613T>G (p.Leu1538Arg) c.4721T>G (p.Leu1574Arg) n.4628T>G | |
11 | g.77198577T>A | CA475796407 | MYO7A | c.4524T>A (p.Leu1508=) c.2365T>A c.4491T>A (p.Leu1497=) c.2067T>A (p.Leu689=) n.2177T>A c.4632T>A (p.Leu1544=) c.4542T>A (p.Leu1514=) c.4413T>A (p.Leu1471=) c.4401T>A (p.Leu1467=) c.4374T>A (p.Leu1458=) n.4844T>A n.4846T>A c.4614T>A (p.Leu1538=) c.4722T>A (p.Leu1574=) n.4629T>A | |
11 | g.77198577T>C | CA475796408 | MYO7A | c.4524T>C (p.Leu1508=) c.2365T>C c.4491T>C (p.Leu1497=) c.2067T>C (p.Leu689=) n.2177T>C c.4632T>C (p.Leu1544=) c.4542T>C (p.Leu1514=) c.4413T>C (p.Leu1471=) c.4401T>C (p.Leu1467=) c.4374T>C (p.Leu1458=) n.4844T>C n.4846T>C c.4614T>C (p.Leu1538=) c.4722T>C (p.Leu1574=) n.4629T>C | |
11 | g.77198577T>G | CA475796409 | MYO7A | c.4524T>G (p.Leu1508=) c.2365T>G c.4491T>G (p.Leu1497=) c.2067T>G (p.Leu689=) n.2177T>G c.4632T>G (p.Leu1544=) c.4542T>G (p.Leu1514=) c.4413T>G (p.Leu1471=) c.4401T>G (p.Leu1467=) c.4374T>G (p.Leu1458=) n.4844T>G n.4846T>G c.4614T>G (p.Leu1538=) c.4722T>G (p.Leu1574=) n.4629T>G | |
11 | g.77198578C>A | CA381950377 | MYO7A | c.4525C>A (p.Leu1509Met) c.2366C>A c.4492C>A (p.Leu1498Met) c.2068C>A (p.Leu690Met) n.2178C>A c.4633C>A (p.Leu1545Met) c.4543C>A (p.Leu1515Met) c.4414C>A (p.Leu1472Met) c.4402C>A (p.Leu1468Met) c.4375C>A (p.Leu1459Met) n.4845C>A n.4847C>A c.4615C>A (p.Leu1539Met) c.4723C>A (p.Leu1575Met) n.4630C>A | |
11 | g.77198578C= | CA1984121147 | MYO7A | c.4525C= (p.Leu1509=) c.2366C= c.4492C= (p.Leu1498=) c.2068C= (p.Leu690=) n.2178C= c.4633C= (p.Leu1545=) c.4543C= (p.Leu1515=) c.4414C= (p.Leu1472=) c.4402C= (p.Leu1468=) c.4375C= (p.Leu1459=) n.4845C= n.4847C= c.4615C= (p.Leu1539=) c.4723C= (p.Leu1575=) n.4630C= | |
11 | g.77198578C>G | CA381950378 | MYO7A | c.4525C>G (p.Leu1509Val) c.2366C>G c.4492C>G (p.Leu1498Val) c.2068C>G (p.Leu690Val) n.2178C>G c.4633C>G (p.Leu1545Val) c.4543C>G (p.Leu1515Val) c.4414C>G (p.Leu1472Val) c.4402C>G (p.Leu1468Val) c.4375C>G (p.Leu1459Val) n.4845C>G n.4847C>G c.4615C>G (p.Leu1539Val) c.4723C>G (p.Leu1575Val) n.4630C>G | dbSNP |
11 | g.77198578C>T | CA475796410 | MYO7A | c.4525C>T (p.Leu1509=) c.2366C>T c.4492C>T (p.Leu1498=) c.2068C>T (p.Leu690=) n.2178C>T c.4633C>T (p.Leu1545=) c.4543C>T (p.Leu1515=) c.4414C>T (p.Leu1472=) c.4402C>T (p.Leu1468=) c.4375C>T (p.Leu1459=) n.4845C>T n.4847C>T c.4615C>T (p.Leu1539=) c.4723C>T (p.Leu1575=) n.4630C>T | gnomAD v4 |
11 | g.77198579T>A | CA381950379 | MYO7A | c.4526T>A (p.Leu1509Gln) c.2367T>A c.4493T>A (p.Leu1498Gln) c.2069T>A (p.Leu690Gln) n.2179T>A c.4634T>A (p.Leu1545Gln) c.4544T>A (p.Leu1515Gln) c.4415T>A (p.Leu1472Gln) c.4403T>A (p.Leu1468Gln) c.4376T>A (p.Leu1459Gln) n.4846T>A n.4848T>A c.4616T>A (p.Leu1539Gln) c.4724T>A (p.Leu1575Gln) n.4631T>A | |
11 | g.77198579T>C | CA381950381 | MYO7A | c.4526T>C (p.Leu1509Pro) c.2367T>C c.4493T>C (p.Leu1498Pro) c.2069T>C (p.Leu690Pro) n.2179T>C c.4634T>C (p.Leu1545Pro) c.4544T>C (p.Leu1515Pro) c.4415T>C (p.Leu1472Pro) c.4403T>C (p.Leu1468Pro) c.4376T>C (p.Leu1459Pro) n.4846T>C n.4848T>C c.4616T>C (p.Leu1539Pro) c.4724T>C (p.Leu1575Pro) n.4631T>C | |
11 | g.77198579T>G | CA381950380 | MYO7A | c.4526T>G (p.Leu1509Arg) c.2367T>G c.4493T>G (p.Leu1498Arg) c.2069T>G (p.Leu690Arg) n.2179T>G c.4634T>G (p.Leu1545Arg) c.4544T>G (p.Leu1515Arg) c.4415T>G (p.Leu1472Arg) c.4403T>G (p.Leu1468Arg) c.4376T>G (p.Leu1459Arg) n.4846T>G n.4848T>G c.4616T>G (p.Leu1539Arg) c.4724T>G (p.Leu1575Arg) n.4631T>G | |
11 | g.77198580G>A | CA475796411 | MYO7A | c.4527G>A (p.Leu1509=) c.2368G>A c.4494G>A (p.Leu1498=) c.2070G>A (p.Leu690=) n.2180G>A c.4635G>A (p.Leu1545=) c.4545G>A (p.Leu1515=) c.4416G>A (p.Leu1472=) c.4404G>A (p.Leu1468=) c.4377G>A (p.Leu1459=) n.4847G>A n.4849G>A c.4617G>A (p.Leu1539=) c.4725G>A (p.Leu1575=) n.4632G>A | ClinVar dbSNP gnomAD v4 |
11 | g.77198580G>C | CA475796412 | MYO7A | c.4527G>C (p.Leu1509=) c.2368G>C c.4494G>C (p.Leu1498=) c.2070G>C (p.Leu690=) n.2180G>C c.4635G>C (p.Leu1545=) c.4545G>C (p.Leu1515=) c.4416G>C (p.Leu1472=) c.4404G>C (p.Leu1468=) c.4377G>C (p.Leu1459=) n.4847G>C n.4849G>C c.4617G>C (p.Leu1539=) c.4725G>C (p.Leu1575=) n.4632G>C | |
11 | g.77198580G= | CA1984121149 | MYO7A | c.4527G= (p.Leu1509=) c.2368G= c.4494G= (p.Leu1498=) c.2070G= (p.Leu690=) n.2180G= c.4635G= (p.Leu1545=) c.4545G= (p.Leu1515=) c.4416G= (p.Leu1472=) c.4404G= (p.Leu1468=) c.4377G= (p.Leu1459=) n.4847G= n.4849G= c.4617G= (p.Leu1539=) c.4725G= (p.Leu1575=) n.4632G= | |
11 | g.77198580G>T | CA475796413 | MYO7A | c.4527G>T (p.Leu1509=) c.2368G>T c.4494G>T (p.Leu1498=) c.2070G>T (p.Leu690=) n.2180G>T c.4635G>T (p.Leu1545=) c.4545G>T (p.Leu1515=) c.4416G>T (p.Leu1472=) c.4404G>T (p.Leu1468=) c.4377G>T (p.Leu1459=) n.4847G>T n.4849G>T c.4617G>T (p.Leu1539=) c.4725G>T (p.Leu1575=) n.4632G>T | gnomAD v4 |
11 | g.77198581G>A | CA381950382 | MYO7A | c.4528G>A (p.Glu1510Lys) c.2369G>A c.4495G>A (p.Glu1499Lys) c.2071G>A (p.Glu691Lys) n.2181G>A c.4636G>A (p.Glu1546Lys) c.4546G>A (p.Glu1516Lys) c.4417G>A (p.Glu1473Lys) c.4405G>A (p.Glu1469Lys) c.4378G>A (p.Glu1460Lys) n.4848G>A n.4850G>A c.4618G>A (p.Glu1540Lys) c.4726G>A (p.Glu1576Lys) n.4633G>A | ClinVar |
11 | g.77198581G>C | CA381950383 | MYO7A | c.4528G>C (p.Glu1510Gln) c.2369G>C c.4495G>C (p.Glu1499Gln) c.2071G>C (p.Glu691Gln) n.2181G>C c.4636G>C (p.Glu1546Gln) c.4546G>C (p.Glu1516Gln) c.4417G>C (p.Glu1473Gln) c.4405G>C (p.Glu1469Gln) c.4378G>C (p.Glu1460Gln) n.4848G>C n.4850G>C c.4618G>C (p.Glu1540Gln) c.4726G>C (p.Glu1576Gln) n.4633G>C | |
11 | g.77198581G>T | CA381950384 | MYO7A | c.4528G>T (p.Glu1510Ter) c.2369G>T c.4495G>T (p.Glu1499Ter) c.2071G>T (p.Glu691Ter) n.2181G>T c.4636G>T (p.Glu1546Ter) c.4546G>T (p.Glu1516Ter) c.4417G>T (p.Glu1473Ter) c.4405G>T (p.Glu1469Ter) c.4378G>T (p.Glu1460Ter) n.4848G>T n.4850G>T c.4618G>T (p.Glu1540Ter) c.4726G>T (p.Glu1576Ter) n.4633G>T | |
11 | g.77198582A>C | CA381950385 | MYO7A | c.4529A>C (p.Glu1510Ala) c.2370A>C c.4496A>C (p.Glu1499Ala) c.2072A>C (p.Glu691Ala) n.2182A>C c.4637A>C (p.Glu1546Ala) c.4547A>C (p.Glu1516Ala) c.4418A>C (p.Glu1473Ala) c.4406A>C (p.Glu1469Ala) c.4379A>C (p.Glu1460Ala) n.4849A>C n.4851A>C c.4619A>C (p.Glu1540Ala) c.4727A>C (p.Glu1576Ala) n.4634A>C | |
11 | g.77198582A>G | CA381950386 | MYO7A | c.4529A>G (p.Glu1510Gly) c.2370A>G c.4496A>G (p.Glu1499Gly) c.2072A>G (p.Glu691Gly) n.2182A>G c.4637A>G (p.Glu1546Gly) c.4547A>G (p.Glu1516Gly) c.4418A>G (p.Glu1473Gly) c.4406A>G (p.Glu1469Gly) c.4379A>G (p.Glu1460Gly) n.4849A>G n.4851A>G c.4619A>G (p.Glu1540Gly) c.4727A>G (p.Glu1576Gly) n.4634A>G | |
11 | g.77198582A>T | CA381950387 | MYO7A | c.4529A>T (p.Glu1510Val) c.2370A>T c.4496A>T (p.Glu1499Val) c.2072A>T (p.Glu691Val) n.2182A>T c.4637A>T (p.Glu1546Val) c.4547A>T (p.Glu1516Val) c.4418A>T (p.Glu1473Val) c.4406A>T (p.Glu1469Val) c.4379A>T (p.Glu1460Val) n.4849A>T n.4851A>T c.4619A>T (p.Glu1540Val) c.4727A>T (p.Glu1576Val) n.4634A>T | |
11 | g.77198583G>A | CA6198467 | MYO7A | c.4530G>A (p.Glu1510=) c.2371G>A c.4497G>A (p.Glu1499=) c.2073G>A (p.Glu691=) n.2183G>A c.4638G>A (p.Glu1546=) c.4548G>A (p.Glu1516=) c.4419G>A (p.Glu1473=) c.4407G>A (p.Glu1469=) c.4380G>A (p.Glu1460=) n.4850G>A n.4852G>A c.4620G>A (p.Glu1540=) c.4728G>A (p.Glu1576=) n.4635G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198583G>C | CA381950388 | MYO7A | c.4530G>C (p.Glu1510Asp) c.2371G>C c.4497G>C (p.Glu1499Asp) c.2073G>C (p.Glu691Asp) n.2183G>C c.4638G>C (p.Glu1546Asp) c.4548G>C (p.Glu1516Asp) c.4419G>C (p.Glu1473Asp) c.4407G>C (p.Glu1469Asp) c.4380G>C (p.Glu1460Asp) n.4850G>C n.4852G>C c.4620G>C (p.Glu1540Asp) c.4728G>C (p.Glu1576Asp) n.4635G>C | |
11 | g.77198583G= | CA1984121150 | MYO7A | c.4530G= (p.Glu1510=) c.2371G= c.4497G= (p.Glu1499=) c.2073G= (p.Glu691=) n.2183G= c.4638G= (p.Glu1546=) c.4548G= (p.Glu1516=) c.4419G= (p.Glu1473=) c.4407G= (p.Glu1469=) c.4380G= (p.Glu1460=) n.4850G= n.4852G= c.4620G= (p.Glu1540=) c.4728G= (p.Glu1576=) n.4635G= | |
11 | g.77198583G>T | CA381950389 | MYO7A | c.4530G>T (p.Glu1510Asp) c.2371G>T c.4497G>T (p.Glu1499Asp) c.2073G>T (p.Glu691Asp) n.2183G>T c.4638G>T (p.Glu1546Asp) c.4548G>T (p.Glu1516Asp) c.4419G>T (p.Glu1473Asp) c.4407G>T (p.Glu1469Asp) c.4380G>T (p.Glu1460Asp) n.4850G>T n.4852G>T c.4620G>T (p.Glu1540Asp) c.4728G>T (p.Glu1576Asp) n.4635G>T | |
11 | g.77198584C>A | CA381950390 | MYO7A | c.4531C>A (p.Leu1511Met) c.2372C>A c.4498C>A (p.Leu1500Met) c.2074C>A (p.Leu692Met) n.2184C>A c.4639C>A (p.Leu1547Met) c.4549C>A (p.Leu1517Met) c.4420C>A (p.Leu1474Met) c.4408C>A (p.Leu1470Met) c.4381C>A (p.Leu1461Met) n.4851C>A n.4853C>A c.4621C>A (p.Leu1541Met) c.4729C>A (p.Leu1577Met) n.4636C>A | |
11 | g.77198584C= | CA1984121158 | MYO7A | c.4531C= (p.Leu1511=) c.2372C= c.4498C= (p.Leu1500=) c.2074C= (p.Leu692=) n.2184C= c.4639C= (p.Leu1547=) c.4549C= (p.Leu1517=) c.4420C= (p.Leu1474=) c.4408C= (p.Leu1470=) c.4381C= (p.Leu1461=) n.4851C= n.4853C= c.4621C= (p.Leu1541=) c.4729C= (p.Leu1577=) n.4636C= | |
11 | g.77198584C>G | CA381950391 | MYO7A | c.4531C>G (p.Leu1511Val) c.2372C>G c.4498C>G (p.Leu1500Val) c.2074C>G (p.Leu692Val) n.2184C>G c.4639C>G (p.Leu1547Val) c.4549C>G (p.Leu1517Val) c.4420C>G (p.Leu1474Val) c.4408C>G (p.Leu1470Val) c.4381C>G (p.Leu1461Val) n.4851C>G n.4853C>G c.4621C>G (p.Leu1541Val) c.4729C>G (p.Leu1577Val) n.4636C>G | gnomAD v4 |
11 | g.77198584C>T | CA475796414 | MYO7A | c.4531C>T (p.Leu1511=) c.2372C>T c.4498C>T (p.Leu1500=) c.2074C>T (p.Leu692=) n.2184C>T c.4639C>T (p.Leu1547=) c.4549C>T (p.Leu1517=) c.4420C>T (p.Leu1474=) c.4408C>T (p.Leu1470=) c.4381C>T (p.Leu1461=) n.4851C>T n.4853C>T c.4621C>T (p.Leu1541=) c.4729C>T (p.Leu1577=) n.4636C>T | dbSNP |
11 | g.77198585T>A | CA381950392 | MYO7A | c.4532T>A (p.Leu1511Gln) c.2373T>A c.4499T>A (p.Leu1500Gln) c.2075T>A (p.Leu692Gln) n.2185T>A c.4640T>A (p.Leu1547Gln) c.4550T>A (p.Leu1517Gln) c.4421T>A (p.Leu1474Gln) c.4409T>A (p.Leu1470Gln) c.4382T>A (p.Leu1461Gln) n.4852T>A n.4854T>A c.4622T>A (p.Leu1541Gln) c.4730T>A (p.Leu1577Gln) n.4637T>A | |
11 | g.77198585T>C | CA381950393 | MYO7A | c.4532T>C (p.Leu1511Pro) c.2373T>C c.4499T>C (p.Leu1500Pro) c.2075T>C (p.Leu692Pro) n.2185T>C c.4640T>C (p.Leu1547Pro) c.4550T>C (p.Leu1517Pro) c.4421T>C (p.Leu1474Pro) c.4409T>C (p.Leu1470Pro) c.4382T>C (p.Leu1461Pro) n.4852T>C n.4854T>C c.4622T>C (p.Leu1541Pro) c.4730T>C (p.Leu1577Pro) n.4637T>C | |
11 | g.77198585T>G | CA381950394 | MYO7A | c.4532T>G (p.Leu1511Arg) c.2373T>G c.4499T>G (p.Leu1500Arg) c.2075T>G (p.Leu692Arg) n.2185T>G c.4640T>G (p.Leu1547Arg) c.4550T>G (p.Leu1517Arg) c.4421T>G (p.Leu1474Arg) c.4409T>G (p.Leu1470Arg) c.4382T>G (p.Leu1461Arg) n.4852T>G n.4854T>G c.4622T>G (p.Leu1541Arg) c.4730T>G (p.Leu1577Arg) n.4637T>G | |
11 | g.77198586G>A | CA475796415 | MYO7A | c.4533G>A (p.Leu1511=) c.2374G>A c.4500G>A (p.Leu1500=) c.2076G>A (p.Leu692=) n.2186G>A c.4641G>A (p.Leu1547=) c.4551G>A (p.Leu1517=) c.4422G>A (p.Leu1474=) c.4410G>A (p.Leu1470=) c.4383G>A (p.Leu1461=) n.4853G>A n.4855G>A c.4623G>A (p.Leu1541=) c.4731G>A (p.Leu1577=) n.4638G>A | |
11 | g.77198586G>C | CA475796416 | MYO7A | c.4533G>C (p.Leu1511=) c.2374G>C c.4500G>C (p.Leu1500=) c.2076G>C (p.Leu692=) n.2186G>C c.4641G>C (p.Leu1547=) c.4551G>C (p.Leu1517=) c.4422G>C (p.Leu1474=) c.4410G>C (p.Leu1470=) c.4383G>C (p.Leu1461=) n.4853G>C n.4855G>C c.4623G>C (p.Leu1541=) c.4731G>C (p.Leu1577=) n.4638G>C | |
11 | g.77198586G>T | CA475796417 | MYO7A | c.4533G>T (p.Leu1511=) c.2374G>T c.4500G>T (p.Leu1500=) c.2076G>T (p.Leu692=) n.2186G>T c.4641G>T (p.Leu1547=) c.4551G>T (p.Leu1517=) c.4422G>T (p.Leu1474=) c.4410G>T (p.Leu1470=) c.4383G>T (p.Leu1461=) n.4853G>T n.4855G>T c.4623G>T (p.Leu1541=) c.4731G>T (p.Leu1577=) n.4638G>T | |
11 | g.77198587T>A | CA381950397 | MYO7A | c.4534T>A (p.Ser1512Thr) c.2375T>A c.4501T>A (p.Ser1501Thr) c.2077T>A (p.Ser693Thr) n.2187T>A c.4642T>A (p.Ser1548Thr) c.4552T>A (p.Ser1518Thr) c.4423T>A (p.Ser1475Thr) c.4411T>A (p.Ser1471Thr) c.4384T>A (p.Ser1462Thr) n.4854T>A n.4856T>A c.4624T>A (p.Ser1542Thr) c.4732T>A (p.Ser1578Thr) n.4639T>A | |
11 | g.77198587T>C | CA381950395 | MYO7A | c.4534T>C (p.Ser1512Pro) c.2375T>C c.4501T>C (p.Ser1501Pro) c.2077T>C (p.Ser693Pro) n.2187T>C c.4642T>C (p.Ser1548Pro) c.4552T>C (p.Ser1518Pro) c.4423T>C (p.Ser1475Pro) c.4411T>C (p.Ser1471Pro) c.4384T>C (p.Ser1462Pro) n.4854T>C n.4856T>C c.4624T>C (p.Ser1542Pro) c.4732T>C (p.Ser1578Pro) n.4639T>C | |
11 | g.77198587T>G | CA381950396 | MYO7A | c.4534T>G (p.Ser1512Ala) c.2375T>G c.4501T>G (p.Ser1501Ala) c.2077T>G (p.Ser693Ala) n.2187T>G c.4642T>G (p.Ser1548Ala) c.4552T>G (p.Ser1518Ala) c.4423T>G (p.Ser1475Ala) c.4411T>G (p.Ser1471Ala) c.4384T>G (p.Ser1462Ala) n.4854T>G n.4856T>G c.4624T>G (p.Ser1542Ala) c.4732T>G (p.Ser1578Ala) n.4639T>G | |
11 | g.77198588C>A | CA381950398 | MYO7A | c.4535C>A (p.Ser1512Tyr) c.2376C>A c.4502C>A (p.Ser1501Tyr) c.2078C>A (p.Ser693Tyr) n.2188C>A c.4643C>A (p.Ser1548Tyr) c.4553C>A (p.Ser1518Tyr) c.4424C>A (p.Ser1475Tyr) c.4412C>A (p.Ser1471Tyr) c.4385C>A (p.Ser1462Tyr) n.4855C>A n.4857C>A c.4625C>A (p.Ser1542Tyr) c.4733C>A (p.Ser1578Tyr) n.4640C>A | |
11 | g.77198588C>G | CA381950399 | MYO7A | c.4535C>G (p.Ser1512Cys) c.2376C>G c.4502C>G (p.Ser1501Cys) c.2078C>G (p.Ser693Cys) n.2188C>G c.4643C>G (p.Ser1548Cys) c.4553C>G (p.Ser1518Cys) c.4424C>G (p.Ser1475Cys) c.4412C>G (p.Ser1471Cys) c.4385C>G (p.Ser1462Cys) n.4855C>G n.4857C>G c.4625C>G (p.Ser1542Cys) c.4733C>G (p.Ser1578Cys) n.4640C>G | |
11 | g.77198588C>T | CA381950400 | MYO7A | c.4535C>T (p.Ser1512Phe) c.2376C>T c.4502C>T (p.Ser1501Phe) c.2078C>T (p.Ser693Phe) n.2188C>T c.4643C>T (p.Ser1548Phe) c.4553C>T (p.Ser1518Phe) c.4424C>T (p.Ser1475Phe) c.4412C>T (p.Ser1471Phe) c.4385C>T (p.Ser1462Phe) n.4855C>T n.4857C>T c.4625C>T (p.Ser1542Phe) c.4733C>T (p.Ser1578Phe) n.4640C>T | |
11 | g.77198589C>A | CA475796418 | MYO7A | c.4536C>A (p.Ser1512=) c.2377C>A c.4503C>A (p.Ser1501=) c.2079C>A (p.Ser693=) n.2189C>A c.4644C>A (p.Ser1548=) c.4554C>A (p.Ser1518=) c.4425C>A (p.Ser1475=) c.4413C>A (p.Ser1471=) c.4386C>A (p.Ser1462=) n.4856C>A n.4858C>A c.4626C>A (p.Ser1542=) c.4734C>A (p.Ser1578=) n.4641C>A | |
11 | g.77198589C= | CA1984121167 | MYO7A | c.4536C= (p.Ser1512=) c.2377C= c.4503C= (p.Ser1501=) c.2079C= (p.Ser693=) n.2189C= c.4644C= (p.Ser1548=) c.4554C= (p.Ser1518=) c.4425C= (p.Ser1475=) c.4413C= (p.Ser1471=) c.4386C= (p.Ser1462=) n.4856C= n.4858C= c.4626C= (p.Ser1542=) c.4734C= (p.Ser1578=) n.4641C= | |
11 | g.77198589C>G | CA475796419 | MYO7A | c.4536C>G (p.Ser1512=) c.2377C>G c.4503C>G (p.Ser1501=) c.2079C>G (p.Ser693=) n.2189C>G c.4644C>G (p.Ser1548=) c.4554C>G (p.Ser1518=) c.4425C>G (p.Ser1475=) c.4413C>G (p.Ser1471=) c.4386C>G (p.Ser1462=) n.4856C>G n.4858C>G c.4626C>G (p.Ser1542=) c.4734C>G (p.Ser1578=) n.4641C>G | |
11 | g.77198589C>T | CA475796420 | MYO7A | c.4536C>T (p.Ser1512=) c.2377C>T c.4503C>T (p.Ser1501=) c.2079C>T (p.Ser693=) n.2189C>T c.4644C>T (p.Ser1548=) c.4554C>T (p.Ser1518=) c.4425C>T (p.Ser1475=) c.4413C>T (p.Ser1471=) c.4386C>T (p.Ser1462=) n.4856C>T n.4858C>T c.4626C>T (p.Ser1542=) c.4734C>T (p.Ser1578=) n.4641C>T | ClinVar dbSNP gnomAD v4 |
11 | g.77198590T>A | CA381950401 | MYO7A | c.4537T>A (p.Phe1513Ile) c.2378T>A c.4504T>A (p.Phe1502Ile) c.2080T>A (p.Phe694Ile) n.2190T>A c.4645T>A (p.Phe1549Ile) c.4555T>A (p.Phe1519Ile) c.4426T>A (p.Phe1476Ile) c.4414T>A (p.Phe1472Ile) c.4387T>A (p.Phe1463Ile) n.4857T>A n.4859T>A c.4627T>A (p.Phe1543Ile) c.4735T>A (p.Phe1579Ile) n.4642T>A | |
11 | g.77198590T>C | CA381950402 | MYO7A | c.4537T>C (p.Phe1513Leu) c.2378T>C c.4504T>C (p.Phe1502Leu) c.2080T>C (p.Phe694Leu) n.2190T>C c.4645T>C (p.Phe1549Leu) c.4555T>C (p.Phe1519Leu) c.4426T>C (p.Phe1476Leu) c.4414T>C (p.Phe1472Leu) c.4387T>C (p.Phe1463Leu) n.4857T>C n.4859T>C c.4627T>C (p.Phe1543Leu) c.4735T>C (p.Phe1579Leu) n.4642T>C | |
11 | g.77198590T>G | CA381950403 | MYO7A | c.4537T>G (p.Phe1513Val) c.2378T>G c.4504T>G (p.Phe1502Val) c.2080T>G (p.Phe694Val) n.2190T>G c.4645T>G (p.Phe1549Val) c.4555T>G (p.Phe1519Val) c.4426T>G (p.Phe1476Val) c.4414T>G (p.Phe1472Val) c.4387T>G (p.Phe1463Val) n.4857T>G n.4859T>G c.4627T>G (p.Phe1543Val) c.4735T>G (p.Phe1579Val) n.4642T>G | |
11 | g.77198591T>A | CA381950404 | MYO7A | c.4538T>A (p.Phe1513Tyr) c.2379T>A c.4505T>A (p.Phe1502Tyr) c.2081T>A (p.Phe694Tyr) n.2191T>A c.4646T>A (p.Phe1549Tyr) c.4556T>A (p.Phe1519Tyr) c.4427T>A (p.Phe1476Tyr) c.4415T>A (p.Phe1472Tyr) c.4388T>A (p.Phe1463Tyr) n.4858T>A n.4860T>A c.4628T>A (p.Phe1543Tyr) c.4736T>A (p.Phe1579Tyr) n.4643T>A | |
11 | g.77198591T>C | CA381950405 | MYO7A | c.4538T>C (p.Phe1513Ser) c.2379T>C c.4505T>C (p.Phe1502Ser) c.2081T>C (p.Phe694Ser) n.2191T>C c.4646T>C (p.Phe1549Ser) c.4556T>C (p.Phe1519Ser) c.4427T>C (p.Phe1476Ser) c.4415T>C (p.Phe1472Ser) c.4388T>C (p.Phe1463Ser) n.4858T>C n.4860T>C c.4628T>C (p.Phe1543Ser) c.4736T>C (p.Phe1579Ser) n.4643T>C | |
11 | g.77198591T>G | CA381950406 | MYO7A | c.4538T>G (p.Phe1513Cys) c.2379T>G c.4505T>G (p.Phe1502Cys) c.2081T>G (p.Phe694Cys) n.2191T>G c.4646T>G (p.Phe1549Cys) c.4556T>G (p.Phe1519Cys) c.4427T>G (p.Phe1476Cys) c.4415T>G (p.Phe1472Cys) c.4388T>G (p.Phe1463Cys) n.4858T>G n.4860T>G c.4628T>G (p.Phe1543Cys) c.4736T>G (p.Phe1579Cys) n.4643T>G | |
11 | g.77198592C>A | CA381950407 | MYO7A | c.4539C>A (p.Phe1513Leu) c.2380C>A c.4506C>A (p.Phe1502Leu) c.2082C>A (p.Phe694Leu) n.2192C>A c.4647C>A (p.Phe1549Leu) c.4557C>A (p.Phe1519Leu) c.4428C>A (p.Phe1476Leu) c.4416C>A (p.Phe1472Leu) c.4389C>A (p.Phe1463Leu) n.4859C>A n.4861C>A c.4629C>A (p.Phe1543Leu) c.4737C>A (p.Phe1579Leu) n.4644C>A | |
11 | g.77198592C= | CA1984121171 | MYO7A | c.4539C= (p.Phe1513=) c.2380C= c.4506C= (p.Phe1502=) c.2082C= (p.Phe694=) n.2192C= c.4647C= (p.Phe1549=) c.4557C= (p.Phe1519=) c.4428C= (p.Phe1476=) c.4416C= (p.Phe1472=) c.4389C= (p.Phe1463=) n.4859C= n.4861C= c.4629C= (p.Phe1543=) c.4737C= (p.Phe1579=) n.4644C= | |
11 | g.77198592C>G | CA381950408 | MYO7A | c.4539C>G (p.Phe1513Leu) c.2380C>G c.4506C>G (p.Phe1502Leu) c.2082C>G (p.Phe694Leu) n.2192C>G c.4647C>G (p.Phe1549Leu) c.4557C>G (p.Phe1519Leu) c.4428C>G (p.Phe1476Leu) c.4416C>G (p.Phe1472Leu) c.4389C>G (p.Phe1463Leu) n.4859C>G n.4861C>G c.4629C>G (p.Phe1543Leu) c.4737C>G (p.Phe1579Leu) n.4644C>G | gnomAD v4 |
11 | g.77198592C>T | CA6198468 | MYO7A | c.4539C>T (p.Phe1513=) c.2380C>T c.4506C>T (p.Phe1502=) c.2082C>T (p.Phe694=) n.2192C>T c.4647C>T (p.Phe1549=) c.4557C>T (p.Phe1519=) c.4428C>T (p.Phe1476=) c.4416C>T (p.Phe1472=) c.4389C>T (p.Phe1463=) n.4859C>T n.4861C>T c.4629C>T (p.Phe1543=) c.4737C>T (p.Phe1579=) n.4644C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77198593C>A | CA381950409 | MYO7A | c.4540C>A (p.Pro1514Thr) c.2381C>A c.4507C>A (p.Pro1503Thr) c.2083C>A (p.Pro695Thr) n.2193C>A c.4648C>A (p.Pro1550Thr) c.4558C>A (p.Pro1520Thr) c.4429C>A (p.Pro1477Thr) c.4417C>A (p.Pro1473Thr) c.4390C>A (p.Pro1464Thr) n.4860C>A n.4862C>A c.4630C>A (p.Pro1544Thr) c.4738C>A (p.Pro1580Thr) n.4645C>A | |
11 | g.77198593C>G | CA381950411 | MYO7A | c.4540C>G (p.Pro1514Ala) c.2381C>G c.4507C>G (p.Pro1503Ala) c.2083C>G (p.Pro695Ala) n.2193C>G c.4648C>G (p.Pro1550Ala) c.4558C>G (p.Pro1520Ala) c.4429C>G (p.Pro1477Ala) c.4417C>G (p.Pro1473Ala) c.4390C>G (p.Pro1464Ala) n.4860C>G n.4862C>G c.4630C>G (p.Pro1544Ala) c.4738C>G (p.Pro1580Ala) n.4645C>G | |
11 | g.77198593C>T | CA381950410 | MYO7A | c.4540C>T (p.Pro1514Ser) c.2381C>T c.4507C>T (p.Pro1503Ser) c.2083C>T (p.Pro695Ser) n.2193C>T c.4648C>T (p.Pro1550Ser) c.4558C>T (p.Pro1520Ser) c.4429C>T (p.Pro1477Ser) c.4417C>T (p.Pro1473Ser) c.4390C>T (p.Pro1464Ser) n.4860C>T n.4862C>T c.4630C>T (p.Pro1544Ser) c.4738C>T (p.Pro1580Ser) n.4645C>T | |
11 | g.77198594C>A | CA381950412 | MYO7A | c.4541C>A (p.Pro1514Gln) c.2382C>A c.4508C>A (p.Pro1503Gln) c.2084C>A (p.Pro695Gln) n.2194C>A c.4649C>A (p.Pro1550Gln) c.4559C>A (p.Pro1520Gln) c.4430C>A (p.Pro1477Gln) c.4418C>A (p.Pro1473Gln) c.4391C>A (p.Pro1464Gln) n.4861C>A n.4863C>A c.4631C>A (p.Pro1544Gln) c.4739C>A (p.Pro1580Gln) n.4646C>A | |
11 | g.77198594C>G | CA381950413 | MYO7A | c.4541C>G (p.Pro1514Arg) c.2382C>G c.4508C>G (p.Pro1503Arg) c.2084C>G (p.Pro695Arg) n.2194C>G c.4649C>G (p.Pro1550Arg) c.4559C>G (p.Pro1520Arg) c.4430C>G (p.Pro1477Arg) c.4418C>G (p.Pro1473Arg) c.4391C>G (p.Pro1464Arg) n.4861C>G n.4863C>G c.4631C>G (p.Pro1544Arg) c.4739C>G (p.Pro1580Arg) n.4646C>G | |
11 | g.77198594C>T | CA381950414 | MYO7A | c.4541C>T (p.Pro1514Leu) c.2382C>T c.4508C>T (p.Pro1503Leu) c.2084C>T (p.Pro695Leu) n.2194C>T c.4649C>T (p.Pro1550Leu) c.4559C>T (p.Pro1520Leu) c.4430C>T (p.Pro1477Leu) c.4418C>T (p.Pro1473Leu) c.4391C>T (p.Pro1464Leu) n.4861C>T n.4863C>T c.4631C>T (p.Pro1544Leu) c.4739C>T (p.Pro1580Leu) n.4646C>T | gnomAD v4 |
11 | g.77198595A>C | CA475796421 | MYO7A | c.4542A>C (p.Pro1514=) c.2383A>C c.4509A>C (p.Pro1503=) c.2085A>C (p.Pro695=) n.2195A>C c.4650A>C (p.Pro1550=) c.4560A>C (p.Pro1520=) c.4431A>C (p.Pro1477=) c.4419A>C (p.Pro1473=) c.4392A>C (p.Pro1464=) n.4862A>C n.4864A>C c.4632A>C (p.Pro1544=) c.4740A>C (p.Pro1580=) n.4647A>C | |
11 | g.77198595A>G | CA475796423 | MYO7A | c.4542A>G (p.Pro1514=) c.2383A>G c.4509A>G (p.Pro1503=) c.2085A>G (p.Pro695=) n.2195A>G c.4650A>G (p.Pro1550=) c.4560A>G (p.Pro1520=) c.4431A>G (p.Pro1477=) c.4419A>G (p.Pro1473=) c.4392A>G (p.Pro1464=) n.4862A>G n.4864A>G c.4632A>G (p.Pro1544=) c.4740A>G (p.Pro1580=) n.4647A>G | ClinVar dbSNP |
11 | g.77198595A>T | CA475796422 | MYO7A | c.4542A>T (p.Pro1514=) c.2383A>T c.4509A>T (p.Pro1503=) c.2085A>T (p.Pro695=) n.2195A>T c.4650A>T (p.Pro1550=) c.4560A>T (p.Pro1520=) c.4431A>T (p.Pro1477=) c.4419A>T (p.Pro1473=) c.4392A>T (p.Pro1464=) n.4862A>T n.4864A>T c.4632A>T (p.Pro1544=) c.4740A>T (p.Pro1580=) n.4647A>T | |
11 | g.77198596G>A | CA6198469 | MYO7A | c.4543G>A (p.Glu1515Lys) c.2384G>A c.4510G>A (p.Glu1504Lys) c.2086G>A (p.Glu696Lys) n.2196G>A c.4651G>A (p.Glu1551Lys) c.4561G>A (p.Glu1521Lys) c.4432G>A (p.Glu1478Lys) c.4420G>A (p.Glu1474Lys) c.4393G>A (p.Glu1465Lys) n.4863G>A n.4865G>A c.4633G>A (p.Glu1545Lys) c.4741G>A (p.Glu1581Lys) n.4648G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198596G>C | CA381950415 | MYO7A | c.4543G>C (p.Glu1515Gln) c.2384G>C c.4510G>C (p.Glu1504Gln) c.2086G>C (p.Glu696Gln) n.2196G>C c.4651G>C (p.Glu1551Gln) c.4561G>C (p.Glu1521Gln) c.4432G>C (p.Glu1478Gln) c.4420G>C (p.Glu1474Gln) c.4393G>C (p.Glu1465Gln) n.4863G>C n.4865G>C c.4633G>C (p.Glu1545Gln) c.4741G>C (p.Glu1581Gln) n.4648G>C | |
11 | g.77198596G= | CA1984121186 | MYO7A | c.4543G= (p.Glu1515=) c.2384G= c.4510G= (p.Glu1504=) c.2086G= (p.Glu696=) n.2196G= c.4651G= (p.Glu1551=) c.4561G= (p.Glu1521=) c.4432G= (p.Glu1478=) c.4420G= (p.Glu1474=) c.4393G= (p.Glu1465=) n.4863G= n.4865G= c.4633G= (p.Glu1545=) c.4741G= (p.Glu1581=) n.4648G= | |
11 | g.77198596G>T | CA381950416 | MYO7A | c.4543G>T (p.Glu1515Ter) c.2384G>T c.4510G>T (p.Glu1504Ter) c.2086G>T (p.Glu696Ter) n.2196G>T c.4651G>T (p.Glu1551Ter) c.4561G>T (p.Glu1521Ter) c.4432G>T (p.Glu1478Ter) c.4420G>T (p.Glu1474Ter) c.4393G>T (p.Glu1465Ter) n.4863G>T n.4865G>T c.4633G>T (p.Glu1545Ter) c.4741G>T (p.Glu1581Ter) n.4648G>T | |
11 | g.77198596_77198600delinsGAGAT | CA1984121188 | MYO7A | c.4543_4547delinsGAGAT (p.Glu1515=) c.2384_2388delinsGAGAT c.4510_4514delinsGAGAT (p.Glu1504=) c.2086_2090delinsGAGAT (p.Glu696=) n.2196_2200delinsGAGAT c.4651_4655delinsGAGAT (p.Glu1551=) c.4561_4565delinsGAGAT (p.Glu1521=) c.4432_4436delinsGAGAT (p.Glu1478=) c.4420_4424delinsGAGAT (p.Glu1474=) c.4393_4397delinsGAGAT (p.Glu1465=) n.4863_4867delinsGAGAT n.4865_4869delinsGAGAT c.4633_4637delinsGAGAT (p.Glu1545=) c.4741_4745delinsGAGAT (p.Glu1581=) n.4648_4652delinsGAGAT | |
11 | g.77198596_77198604delinsGAGATCATG | CA1984121181 | MYO7A | c.4543_4551delinsGAGATCATG (p.Glu1515=) c.2384_2392delinsGAGATCATG c.4510_4518delinsGAGATCATG (p.Glu1504=) c.2086_2094delinsGAGATCATG (p.Glu696=) n.2196_2204delinsGAGATCATG c.4651_4659delinsGAGATCATG (p.Glu1551=) c.4561_4569delinsGAGATCATG (p.Glu1521=) c.4432_4440delinsGAGATCATG (p.Glu1478=) c.4420_4428delinsGAGATCATG (p.Glu1474=) c.4393_4401delinsGAGATCATG (p.Glu1465=) n.4863_4871delinsGAGATCATG n.4865_4873delinsGAGATCATG c.4633_4641delinsGAGATCATG (p.Glu1545=) c.4741_4749delinsGAGATCATG (p.Glu1581=) n.4648_4656delinsGAGATCATG | |
11 | g.77198597A= | CA1984121198 | MYO7A | c.4544A= (p.Glu1515=) c.2385A= c.4511A= (p.Glu1504=) c.2087A= (p.Glu696=) n.2197A= c.4652A= (p.Glu1551=) c.4562A= (p.Glu1521=) c.4433A= (p.Glu1478=) c.4421A= (p.Glu1474=) c.4394A= (p.Glu1465=) n.4864A= n.4866A= c.4634A= (p.Glu1545=) c.4742A= (p.Glu1581=) n.4649A= | |
11 | g.77198597A>C | CA381950417 | MYO7A | c.4544A>C (p.Glu1515Ala) c.2385A>C c.4511A>C (p.Glu1504Ala) c.2087A>C (p.Glu696Ala) n.2197A>C c.4652A>C (p.Glu1551Ala) c.4562A>C (p.Glu1521Ala) c.4433A>C (p.Glu1478Ala) c.4421A>C (p.Glu1474Ala) c.4394A>C (p.Glu1465Ala) n.4864A>C n.4866A>C c.4634A>C (p.Glu1545Ala) c.4742A>C (p.Glu1581Ala) n.4649A>C | dbSNP |
11 | g.77198597A>G | CA6198471 | MYO7A | c.4544A>G (p.Glu1515Gly) c.2385A>G c.4511A>G (p.Glu1504Gly) c.2087A>G (p.Glu696Gly) n.2197A>G c.4652A>G (p.Glu1551Gly) c.4562A>G (p.Glu1521Gly) c.4433A>G (p.Glu1478Gly) c.4421A>G (p.Glu1474Gly) c.4394A>G (p.Glu1465Gly) n.4864A>G n.4866A>G c.4634A>G (p.Glu1545Gly) c.4742A>G (p.Glu1581Gly) n.4649A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.77198597A>T | CA381950418 | MYO7A | c.4544A>T (p.Glu1515Val) c.2385A>T c.4511A>T (p.Glu1504Val) c.2087A>T (p.Glu696Val) n.2197A>T c.4652A>T (p.Glu1551Val) c.4562A>T (p.Glu1521Val) c.4433A>T (p.Glu1478Val) c.4421A>T (p.Glu1474Val) c.4394A>T (p.Glu1465Val) n.4864A>T n.4866A>T c.4634A>T (p.Glu1545Val) c.4742A>T (p.Glu1581Val) n.4649A>T | dbSNP |
11 | g.77198597_77198600del | CA6198470 | MYO7A | c.4544_4547del (p.Glu1515AlafsTer?) c.2385_2388del c.4511_4514del (p.Glu1504AlafsTer?) c.2087_2090del (p.Glu696AlafsTer?) n.2197_2200del c.4652_4655del (p.Glu1551AlafsTer?) c.4562_4565del (p.Glu1521AlafsTer?) c.4433_4436del (p.Glu1478AlafsTer?) c.4421_4424del (p.Glu1474AlafsTer?) c.4394_4397del (p.Glu1465AlafsTer?) n.4864_4867del n.4866_4869del c.4634_4637del (p.Glu1545AlafsTer?) c.4742_4745del (p.Glu1581AlafsTer?) n.4649_4652del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198597_77198604delinsCA | CA278670 | MYO7A | c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) c.2385_2392delinsCA c.4511_4518delinsCA (p.Glu1504_Met1506delinsAla) c.2087_2094delinsCA (p.Glu696_Met698delinsAla) n.2197_2204delinsCA c.4652_4659delinsCA (p.Glu1551_Met1553delinsAla) c.4562_4569delinsCA (p.Glu1521_Met1523delinsAla) c.4433_4440delinsCA (p.Glu1478_Met1480delinsAla) c.4421_4428delinsCA (p.Glu1474_Met1476delinsAla) c.4394_4401delinsCA (p.Glu1465_Met1467delinsAla) n.4864_4871delinsCA n.4866_4873delinsCA c.4634_4641delinsCA (p.Glu1545_Met1547delinsAla) c.4742_4749delinsCA (p.Glu1581_Met1583delinsAla) n.4649_4656delinsCA | ClinVar dbSNP |
11 | g.77198598G>A | CA475796424 | MYO7A | c.4545G>A (p.Glu1515=) c.2386G>A c.4512G>A (p.Glu1504=) c.2088G>A (p.Glu696=) n.2198G>A c.4653G>A (p.Glu1551=) c.4563G>A (p.Glu1521=) c.4434G>A (p.Glu1478=) c.4422G>A (p.Glu1474=) c.4395G>A (p.Glu1465=) n.4865G>A n.4867G>A c.4635G>A (p.Glu1545=) c.4743G>A (p.Glu1581=) n.4650G>A | |
11 | g.77198598G>C | CA381950419 | MYO7A | c.4545G>C (p.Glu1515Asp) c.2386G>C c.4512G>C (p.Glu1504Asp) c.2088G>C (p.Glu696Asp) n.2198G>C c.4653G>C (p.Glu1551Asp) c.4563G>C (p.Glu1521Asp) c.4434G>C (p.Glu1478Asp) c.4422G>C (p.Glu1474Asp) c.4395G>C (p.Glu1465Asp) n.4865G>C n.4867G>C c.4635G>C (p.Glu1545Asp) c.4743G>C (p.Glu1581Asp) n.4650G>C | |
11 | g.77198598G>T | CA381950420 | MYO7A | c.4545G>T (p.Glu1515Asp) c.2386G>T c.4512G>T (p.Glu1504Asp) c.2088G>T (p.Glu696Asp) n.2198G>T c.4653G>T (p.Glu1551Asp) c.4563G>T (p.Glu1521Asp) c.4434G>T (p.Glu1478Asp) c.4422G>T (p.Glu1474Asp) c.4395G>T (p.Glu1465Asp) n.4865G>T n.4867G>T c.4635G>T (p.Glu1545Asp) c.4743G>T (p.Glu1581Asp) n.4650G>T | |
11 | g.77198599A>C | CA381950421 | MYO7A | c.4546A>C (p.Ile1516Leu) c.2387A>C c.4513A>C (p.Ile1505Leu) c.2089A>C (p.Ile697Leu) n.2199A>C c.4654A>C (p.Ile1552Leu) c.4564A>C (p.Ile1522Leu) c.4435A>C (p.Ile1479Leu) c.4423A>C (p.Ile1475Leu) c.4396A>C (p.Ile1466Leu) n.4866A>C n.4868A>C c.4636A>C (p.Ile1546Leu) c.4744A>C (p.Ile1582Leu) n.4651A>C | |
11 | g.77198599A>G | CA381950423 | MYO7A | c.4546A>G (p.Ile1516Val) c.2387A>G c.4513A>G (p.Ile1505Val) c.2089A>G (p.Ile697Val) n.2199A>G c.4654A>G (p.Ile1552Val) c.4564A>G (p.Ile1522Val) c.4435A>G (p.Ile1479Val) c.4423A>G (p.Ile1475Val) c.4396A>G (p.Ile1466Val) n.4866A>G n.4868A>G c.4636A>G (p.Ile1546Val) c.4744A>G (p.Ile1582Val) n.4651A>G | |
11 | g.77198599A>T | CA381950422 | MYO7A | c.4546A>T (p.Ile1516Phe) c.2387A>T c.4513A>T (p.Ile1505Phe) c.2089A>T (p.Ile697Phe) n.2199A>T c.4654A>T (p.Ile1552Phe) c.4564A>T (p.Ile1522Phe) c.4435A>T (p.Ile1479Phe) c.4423A>T (p.Ile1475Phe) c.4396A>T (p.Ile1466Phe) n.4866A>T n.4868A>T c.4636A>T (p.Ile1546Phe) c.4744A>T (p.Ile1582Phe) n.4651A>T | |
11 | g.77198600T>A | CA381950424 | MYO7A | c.4547T>A (p.Ile1516Asn) c.2388T>A c.4514T>A (p.Ile1505Asn) c.2090T>A (p.Ile697Asn) n.2200T>A c.4655T>A (p.Ile1552Asn) c.4565T>A (p.Ile1522Asn) c.4436T>A (p.Ile1479Asn) c.4424T>A (p.Ile1475Asn) c.4397T>A (p.Ile1466Asn) n.4867T>A n.4869T>A c.4637T>A (p.Ile1546Asn) c.4745T>A (p.Ile1582Asn) n.4652T>A | |
11 | g.77198600T>C | CA381950425 | MYO7A | c.4547T>C (p.Ile1516Thr) c.2388T>C c.4514T>C (p.Ile1505Thr) c.2090T>C (p.Ile697Thr) n.2200T>C c.4655T>C (p.Ile1552Thr) c.4565T>C (p.Ile1522Thr) c.4436T>C (p.Ile1479Thr) c.4424T>C (p.Ile1475Thr) c.4397T>C (p.Ile1466Thr) n.4867T>C n.4869T>C c.4637T>C (p.Ile1546Thr) c.4745T>C (p.Ile1582Thr) n.4652T>C | dbSNP |
11 | g.77198600T>G | CA381950426 | MYO7A | c.4547T>G (p.Ile1516Ser) c.2388T>G c.4514T>G (p.Ile1505Ser) c.2090T>G (p.Ile697Ser) n.2200T>G c.4655T>G (p.Ile1552Ser) c.4565T>G (p.Ile1522Ser) c.4436T>G (p.Ile1479Ser) c.4424T>G (p.Ile1475Ser) c.4397T>G (p.Ile1466Ser) n.4867T>G n.4869T>G c.4637T>G (p.Ile1546Ser) c.4745T>G (p.Ile1582Ser) n.4652T>G | |
11 | g.77198600T= | CA1984121205 | MYO7A | c.4547T= (p.Ile1516=) c.2388T= c.4514T= (p.Ile1505=) c.2090T= (p.Ile697=) n.2200T= c.4655T= (p.Ile1552=) c.4565T= (p.Ile1522=) c.4436T= (p.Ile1479=) c.4424T= (p.Ile1475=) c.4397T= (p.Ile1466=) n.4867T= n.4869T= c.4637T= (p.Ile1546=) c.4745T= (p.Ile1582=) n.4652T= | |
11 | g.77198601C>A | CA475796425 | MYO7A | c.4548C>A (p.Ile1516=) c.2389C>A c.4515C>A (p.Ile1505=) c.2091C>A (p.Ile697=) n.2201C>A c.4656C>A (p.Ile1552=) c.4566C>A (p.Ile1522=) c.4437C>A (p.Ile1479=) c.4425C>A (p.Ile1475=) c.4398C>A (p.Ile1466=) n.4868C>A n.4870C>A c.4638C>A (p.Ile1546=) c.4746C>A (p.Ile1582=) n.4653C>A | |
11 | g.77198601C= | CA1984121210 | MYO7A | c.4548C= (p.Ile1516=) c.2389C= c.4515C= (p.Ile1505=) c.2091C= (p.Ile697=) n.2201C= c.4656C= (p.Ile1552=) c.4566C= (p.Ile1522=) c.4437C= (p.Ile1479=) c.4425C= (p.Ile1475=) c.4398C= (p.Ile1466=) n.4868C= n.4870C= c.4638C= (p.Ile1546=) c.4746C= (p.Ile1582=) n.4653C= | |
11 | g.77198601C>G | CA381950427 | MYO7A | c.4548C>G (p.Ile1516Met) c.2389C>G c.4515C>G (p.Ile1505Met) c.2091C>G (p.Ile697Met) n.2201C>G c.4656C>G (p.Ile1552Met) c.4566C>G (p.Ile1522Met) c.4437C>G (p.Ile1479Met) c.4425C>G (p.Ile1475Met) c.4398C>G (p.Ile1466Met) n.4868C>G n.4870C>G c.4638C>G (p.Ile1546Met) c.4746C>G (p.Ile1582Met) n.4653C>G | dbSNP |
11 | g.77198601C>T | CA475796426 | MYO7A | c.4548C>T (p.Ile1516=) c.2389C>T c.4515C>T (p.Ile1505=) c.2091C>T (p.Ile697=) n.2201C>T c.4656C>T (p.Ile1552=) c.4566C>T (p.Ile1522=) c.4437C>T (p.Ile1479=) c.4425C>T (p.Ile1475=) c.4398C>T (p.Ile1466=) n.4868C>T n.4870C>T c.4638C>T (p.Ile1546=) c.4746C>T (p.Ile1582=) n.4653C>T | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.77198602A>C | CA381950428 | MYO7A | c.4549A>C (p.Met1517Leu) c.2390A>C c.4516A>C (p.Met1506Leu) c.2092A>C (p.Met698Leu) n.2202A>C c.4657A>C (p.Met1553Leu) c.4567A>C (p.Met1523Leu) c.4438A>C (p.Met1480Leu) c.4426A>C (p.Met1476Leu) c.4399A>C (p.Met1467Leu) n.4869A>C n.4871A>C c.4639A>C (p.Met1547Leu) c.4747A>C (p.Met1583Leu) n.4654A>C | |
11 | g.77198602A>G | CA381950429 | MYO7A | c.4549A>G (p.Met1517Val) c.2390A>G c.4516A>G (p.Met1506Val) c.2092A>G (p.Met698Val) n.2202A>G c.4657A>G (p.Met1553Val) c.4567A>G (p.Met1523Val) c.4438A>G (p.Met1480Val) c.4426A>G (p.Met1476Val) c.4399A>G (p.Met1467Val) n.4869A>G n.4871A>G c.4639A>G (p.Met1547Val) c.4747A>G (p.Met1583Val) n.4654A>G | |
11 | g.77198602A>T | CA381950430 | MYO7A | c.4549A>T (p.Met1517Leu) c.2390A>T c.4516A>T (p.Met1506Leu) c.2092A>T (p.Met698Leu) n.2202A>T c.4657A>T (p.Met1553Leu) c.4567A>T (p.Met1523Leu) c.4438A>T (p.Met1480Leu) c.4426A>T (p.Met1476Leu) c.4399A>T (p.Met1467Leu) n.4869A>T n.4871A>T c.4639A>T (p.Met1547Leu) c.4747A>T (p.Met1583Leu) n.4654A>T | |
11 | g.77198602_77198604delinsATG | CA1984121214 | MYO7A | c.4549_4551delinsATG (p.Met1517=) c.2390_2392delinsATG c.4516_4518delinsATG (p.Met1506=) c.2092_2094delinsATG (p.Met698=) n.2202_2204delinsATG c.4657_4659delinsATG (p.Met1553=) c.4567_4569delinsATG (p.Met1523=) c.4438_4440delinsATG (p.Met1480=) c.4426_4428delinsATG (p.Met1476=) c.4399_4401delinsATG (p.Met1467=) n.4869_4871delinsATG n.4871_4873delinsATG c.4639_4641delinsATG (p.Met1547=) c.4747_4749delinsATG (p.Met1583=) n.4654_4656delinsATG | |
11 | g.77198603T>A | CA224848811 | MYO7A | c.4550T>A (p.Met1517Lys) c.2391T>A c.4517T>A (p.Met1506Lys) c.2093T>A (p.Met698Lys) n.2203T>A c.4658T>A (p.Met1553Lys) c.4568T>A (p.Met1523Lys) c.4439T>A (p.Met1480Lys) c.4427T>A (p.Met1476Lys) c.4400T>A (p.Met1467Lys) n.4870T>A n.4872T>A c.4640T>A (p.Met1547Lys) c.4748T>A (p.Met1583Lys) n.4655T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.77198603T>C | CA381950431 | MYO7A | c.4550T>C (p.Met1517Thr) c.2391T>C c.4517T>C (p.Met1506Thr) c.2093T>C (p.Met698Thr) n.2203T>C c.4658T>C (p.Met1553Thr) c.4568T>C (p.Met1523Thr) c.4439T>C (p.Met1480Thr) c.4427T>C (p.Met1476Thr) c.4400T>C (p.Met1467Thr) n.4870T>C n.4872T>C c.4640T>C (p.Met1547Thr) c.4748T>C (p.Met1583Thr) n.4655T>C | dbSNP gnomAD v4 |
11 | g.77198603T>G | CA381950432 | MYO7A | c.4550T>G (p.Met1517Arg) c.2391T>G c.4517T>G (p.Met1506Arg) c.2093T>G (p.Met698Arg) n.2203T>G c.4658T>G (p.Met1553Arg) c.4568T>G (p.Met1523Arg) c.4439T>G (p.Met1480Arg) c.4427T>G (p.Met1476Arg) c.4400T>G (p.Met1467Arg) n.4870T>G n.4872T>G c.4640T>G (p.Met1547Arg) c.4748T>G (p.Met1583Arg) n.4655T>G | |
11 | g.77198603T= | CA1984121226 | MYO7A | c.4550T= (p.Met1517=) c.2391T= c.4517T= (p.Met1506=) c.2093T= (p.Met698=) n.2203T= c.4658T= (p.Met1553=) c.4568T= (p.Met1523=) c.4439T= (p.Met1480=) c.4427T= (p.Met1476=) c.4400T= (p.Met1467=) n.4870T= n.4872T= c.4640T= (p.Met1547=) c.4748T= (p.Met1583=) n.4655T= | |
11 | g.77198603_77198604del | CA6198472 | MYO7A | c.4550_4551del (p.Met1517SerfsTer18) c.2391_2392del c.4517_4518del (p.Met1506SerfsTer?) c.2093_2094del (p.Met698SerfsTer?) c.4550_4551del (p.Met1517SerfsTer?) n.2203_2204del c.4658_4659del (p.Met1553SerfsTer?) c.4517_4518del (p.Met1506SerfsTer18) c.4568_4569del (p.Met1523SerfsTer?) c.4439_4440del (p.Met1480SerfsTer?) c.4427_4428del (p.Met1476SerfsTer?) c.4400_4401del (p.Met1467SerfsTer?) n.4870_4871del n.4872_4873del c.4640_4641del (p.Met1547SerfsTer18) c.4748_4749del (p.Met1583SerfsTer?) c.4640_4641del (p.Met1547SerfsTer?) n.4655_4656del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.77198604G>A | CA381950434 | MYO7A | c.4551G>A (p.Met1517Ile) c.2392G>A c.4518G>A (p.Met1506Ile) c.2094G>A (p.Met698Ile) n.2204G>A c.4659G>A (p.Met1553Ile) c.4569G>A (p.Met1523Ile) c.4440G>A (p.Met1480Ile) c.4428G>A (p.Met1476Ile) c.4401G>A (p.Met1467Ile) n.4871G>A n.4873G>A c.4641G>A (p.Met1547Ile) c.4749G>A (p.Met1583Ile) n.4656G>A | gnomAD v4 |
11 | g.77198604G>C | CA381950435 | MYO7A | c.4551G>C (p.Met1517Ile) c.2392G>C c.4518G>C (p.Met1506Ile) c.2094G>C (p.Met698Ile) n.2204G>C c.4659G>C (p.Met1553Ile) c.4569G>C (p.Met1523Ile) c.4440G>C (p.Met1480Ile) c.4428G>C (p.Met1476Ile) c.4401G>C (p.Met1467Ile) n.4871G>C n.4873G>C c.4641G>C (p.Met1547Ile) c.4749G>C (p.Met1583Ile) n.4656G>C | |
11 | g.77198604G= | CA1984121230 | MYO7A | c.4551G= (p.Met1517=) c.2392G= c.4518G= (p.Met1506=) c.2094G= (p.Met698=) n.2204G= c.4659G= (p.Met1553=) c.4569G= (p.Met1523=) c.4440G= (p.Met1480=) c.4428G= (p.Met1476=) c.4401G= (p.Met1467=) n.4871G= n.4873G= c.4641G= (p.Met1547=) c.4749G= (p.Met1583=) n.4656G= | |
11 | g.77198604G>T | CA381950433 | MYO7A | c.4551G>T (p.Met1517Ile) c.2392G>T c.4518G>T (p.Met1506Ile) c.2094G>T (p.Met698Ile) n.2204G>T c.4659G>T (p.Met1553Ile) c.4569G>T (p.Met1523Ile) c.4440G>T (p.Met1480Ile) c.4428G>T (p.Met1476Ile) c.4401G>T (p.Met1467Ile) n.4871G>T n.4873G>T c.4641G>T (p.Met1547Ile) c.4749G>T (p.Met1583Ile) n.4656G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.77198605G>A | CA381950437 | MYO7A | c.4552G>A (p.Ala1518Thr) c.2393G>A c.4519G>A (p.Ala1507Thr) c.2095G>A (p.Ala699Thr) n.2205G>A c.4660G>A (p.Ala1554Thr) c.4570G>A (p.Ala1524Thr) c.4441G>A (p.Ala1481Thr) c.4429G>A (p.Ala1477Thr) c.4402G>A (p.Ala1468Thr) n.4872G>A n.4874G>A c.4642G>A (p.Ala1548Thr) c.4750G>A (p.Ala1584Thr) n.4657G>A | |
11 | g.77198605G>C | CA381950436 | MYO7A | c.4552G>C (p.Ala1518Pro) c.2393G>C c.4519G>C (p.Ala1507Pro) c.2095G>C (p.Ala699Pro) n.2205G>C c.4660G>C (p.Ala1554Pro) c.4570G>C (p.Ala1524Pro) c.4441G>C (p.Ala1481Pro) c.4429G>C (p.Ala1477Pro) c.4402G>C (p.Ala1468Pro) n.4872G>C n.4874G>C c.4642G>C (p.Ala1548Pro) c.4750G>C (p.Ala1584Pro) n.4657G>C | |
11 | g.77198605G>T | CA381950438 | MYO7A | c.4552G>T (p.Ala1518Ser) c.2393G>T c.4519G>T (p.Ala1507Ser) c.2095G>T (p.Ala699Ser) n.2205G>T c.4660G>T (p.Ala1554Ser) c.4570G>T (p.Ala1524Ser) c.4441G>T (p.Ala1481Ser) c.4429G>T (p.Ala1477Ser) c.4402G>T (p.Ala1468Ser) n.4872G>T n.4874G>T c.4642G>T (p.Ala1548Ser) c.4750G>T (p.Ala1584Ser) n.4657G>T |