Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77198511G>ACA475796373MYO7Ac.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
11g.77198511G>CCA381950234MYO7Ac.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
11g.77198511G>TCA381950235MYO7Ac.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
11g.77198512A>CCA381950236MYO7Ac.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
11g.77198512A>GCA381950237MYO7Ac.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
11g.77198512A>TCA381950238MYO7Ac.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
11g.77198513A>CCA381950240MYO7Ac.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
11g.77198513A>GCA381950241MYO7Ac.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
11g.77198513A>TCA381950239MYO7Ac.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
11g.77198514C>ACA381950242MYO7Ac.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
11g.77198514C=CA1984120978MYO7Ac.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=
11g.77198514C>GCA381950243MYO7Ac.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
11g.77198514C>TCA132326MYO7Ac.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
11g.77198515G>ACA6198456MYO7Ac.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
11g.77198515G>CCA6198455MYO7Ac.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
11g.77198515G=CA1984120983MYO7Ac.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=
11g.77198515G>TCA381950244MYO7Ac.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
11g.77198516A>CCA381950245MYO7Ac.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
11g.77198516A>GCA381950246MYO7Ac.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
11g.77198516A>TCA381950247MYO7Ac.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
11g.77198517C>ACA381950248MYO7Ac.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
11g.77198517C=CA1984120984MYO7Ac.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=
11g.77198517C>GCA381950249MYO7Ac.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
11g.77198517C>TCA224848754MYO7Ac.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
11g.77198518G>ACA381950251MYO7Ac.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
11g.77198518G>CCA381950252MYO7Ac.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
11g.77198518G=CA1984120988MYO7Ac.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=
11g.77198518G>TCA381950250MYO7Ac.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
11g.77198519T>ACA381950253MYO7Ac.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
11g.77198519T>CCA6198457MYO7Ac.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
11g.77198519T>GCA381950254MYO7Ac.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
11g.77198519T=CA1984120993MYO7Ac.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=
11g.77198520C>ACA475796374MYO7Ac.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
11g.77198520C>GCA475796376MYO7Ac.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
11g.77198520C>TCA475796375MYO7Ac.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
11g.77198521A=CA1984120998MYO7Ac.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=
11g.77198521A>CCA381950255MYO7Ac.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
11g.77198521A>GCA381950256MYO7Ac.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
11g.77198521A>TCA381950257MYO7Ac.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
11g.77198522T>ACA381950258MYO7Ac.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
11g.77198522T>CCA381950260MYO7Ac.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
11g.77198522T>GCA381950259MYO7Ac.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
11g.77198523C>ACA475796377MYO7Ac.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
11g.77198523C=CA1984121008MYO7Ac.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=
11g.77198523C>GCA224848760MYO7Ac.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
11g.77198523C>TCA224848763MYO7Ac.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
11g.77198524G>ACA132328MYO7Ac.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
11g.77198524G>CCA381950261MYO7Ac.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
11g.77198524G=CA1984121024MYO7Ac.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=
11g.77198524G>TCA381950262MYO7Ac.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
11g.77198525T>ACA381950265MYO7Ac.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
11g.77198525T>CCA381950264MYO7Ac.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
11g.77198525T>GCA381950263MYO7Ac.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
11g.77198526G>ACA475796378MYO7Ac.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
11g.77198526G>CCA475796379MYO7Ac.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
11g.77198526G>TCA475796380MYO7Ac.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
11g.77198527delCA2739270707MYO7Ac.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
11g.77198527G>ACA381950266MYO7Ac.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
11g.77198527G>CCA381950267MYO7Ac.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
11g.77198527G=CA1984121025MYO7Ac.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=
11g.77198527G>TCA381950268MYO7Ac.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
11g.77198528C>ACA381950269MYO7Ac.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
11g.77198528C>GCA381950270MYO7Ac.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
11g.77198528C>TCA381950271MYO7Ac.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
11g.77198529C>ACA475796381MYO7Ac.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
11g.77198529C=CA1984121028MYO7Ac.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=
11g.77198529C>GCA475796382MYO7Ac.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
11g.77198529C>TCA6198458MYO7Ac.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
11g.77198530G>ACA6198459MYO7Ac.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
11g.77198530G>CCA381950272MYO7Ac.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
11g.77198530G=CA1984121035MYO7Ac.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=
11g.77198530G>TCA381950273MYO7Ac.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
11g.77198531T>ACA381950274MYO7Ac.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
11g.77198531T>CCA381950275MYO7Ac.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
11g.77198531T>GCA381950276MYO7Ac.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
11g.77198532C>ACA475796383MYO7Ac.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
11g.77198532C>GCA475796384MYO7Ac.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
11g.77198532C>TCA475796385MYO7Ac.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
11g.77198533A>CCA381950279MYO7Ac.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
11g.77198533A>GCA381950278MYO7Ac.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
11g.77198533A>TCA381950277MYO7Ac.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
11g.77198534dupCA2615264496MYO7Ac.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
11g.77198534A=CA1984121040MYO7Ac.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=
11g.77198534A>CCA381950280MYO7Ac.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
11g.77198534A>GCA6198460MYO7Ac.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
11g.77198534A>TCA381950281MYO7Ac.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
11g.77198535C>ACA381950282MYO7Ac.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
11g.77198535C>GCA381950283MYO7Ac.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
11g.77198535C>TCA475796386MYO7Ac.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
11g.77198536T>ACA381950284MYO7Ac.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
11g.77198536T>CCA6198461MYO7Ac.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
11g.77198536T>GCA381950285MYO7Ac.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
11g.77198536T=CA1984121044MYO7Ac.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=
11g.77198536_77198537dupCA2695215058MYO7Ac.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
11g.77198537G>ACA381950286MYO7Ac.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
11g.77198537G>CCA381950287MYO7Ac.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
11g.77198537G>TCA381950288MYO7Ac.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
11g.77198538G>ACA381950289MYO7Ac.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
11g.77198538G>CCA381950290MYO7Ac.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
11g.77198538G>TCA381950291MYO7Ac.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
11g.77198539A>CCA381950293MYO7Ac.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
11g.77198539A>GCA381950294MYO7Ac.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
11g.77198539A>TCA381950292MYO7Ac.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
11g.77198540C>ACA224848774MYO7Ac.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
11g.77198540C=CA1984121051MYO7Ac.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=
11g.77198540C>GCA381950295MYO7Ac.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
11g.77198540C>TCA6198462MYO7Ac.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
11g.77198541G>ACA177393MYO7Ac.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
11g.77198541G>CCA475796388MYO7Ac.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
11g.77198541G=CA1984121056MYO7Ac.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=
11g.77198541G>TCA475796387MYO7Ac.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
11g.77198542_77198543dupCA2615264515MYO7Ac.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
11g.77198542G>ACA6198463MYO7Ac.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
11g.77198542G>CCA381950296MYO7Ac.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
11g.77198542G=CA1984121061MYO7Ac.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=
11g.77198542G>TCA381950297MYO7Ac.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
11g.77198543G>ACA381950298MYO7Ac.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
11g.77198543G>CCA381950299MYO7Ac.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
11g.77198543G>TCA381950300MYO7Ac.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
11g.77198544T>ACA475796389MYO7Ac.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
11g.77198544T>CCA475796390MYO7Ac.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
11g.77198544T>GCA475796391MYO7Ac.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
11g.77198545G>ACA381950301MYO7Ac.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
11g.77198545G>CCA381950302MYO7Ac.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
11g.77198545G=CA1984121067MYO7Ac.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=
11g.77198545G>TCA381950303MYO7Ac.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
11g.77198546T>ACA381950305MYO7Ac.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
11g.77198546T>CCA224848780MYO7Ac.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
11g.77198546T>GCA381950304MYO7Ac.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
11g.77198546T=CA1984121070MYO7Ac.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=
11g.77198547G>ACA475796392MYO7Ac.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
11g.77198547G>CCA475796393MYO7Ac.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
11g.77198547G=CA1984121075MYO7Ac.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=
11g.77198547G>TCA475796394MYO7Ac.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
11g.77198548T>ACA381950306MYO7Ac.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
11g.77198548T>CCA381950307MYO7Ac.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
11g.77198548T>GCA381950308MYO7Ac.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
11g.77198549A>CCA381950309MYO7Ac.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
11g.77198549A>GCA381950310MYO7Ac.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
11g.77198549A>TCA381950311MYO7Ac.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
11g.77198550C>ACA381950312MYO7Ac.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
11g.77198550C>GCA381950313MYO7Ac.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
11g.77198550C>TCA475796395MYO7Ac.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
11g.77198551T>ACA381950314MYO7Ac.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
11g.77198551T>CCA381950315MYO7Ac.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
11g.77198551T>GCA381950316MYO7Ac.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
11g.77198551T=CA1984121077MYO7Ac.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=
11g.77198552T>ACA381950319MYO7Ac.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
11g.77198552T>CCA381950318MYO7Ac.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
11g.77198552T>GCA381950317MYO7Ac.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
11g.77198552_77198554delinsTTGCA1984121080MYO7Ac.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
11g.77198553_77198555delCA912973125MYO7Ac.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
11g.77198553T>ACA381950320MYO7Ac.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
11g.77198553T>CCA475796396MYO7Ac.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
11g.77198553T>GCA381950321MYO7Ac.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
11g.77198555_77198556delCA658822317MYO7Ac.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
11g.77198554G>ACA381950322MYO7Ac.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
11g.77198554G>CCA381950323MYO7Ac.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
11g.77198554G>TCA381950324MYO7Ac.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
11g.77198555T>ACA381950325MYO7Ac.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
11g.77198555T>CCA381950326MYO7Ac.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
11g.77198555T>GCA381950327MYO7Ac.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
11g.77198556G>ACA475796399MYO7Ac.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
11g.77198556G>CCA475796397MYO7Ac.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
11g.77198556G>TCA475796398MYO7Ac.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
11g.77198557G>ACA381950328MYO7Ac.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
11g.77198557G>CCA381950329MYO7Ac.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
11g.77198557G>TCA381950330MYO7Ac.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
11g.77198558A=CA1984121095MYO7Ac.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=
11g.77198558A>CCA381950331MYO7Ac.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
11g.77198558A>GCA6198464MYO7Ac.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
11g.77198558A>TCA381950332MYO7Ac.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
11g.77198559T>ACA381950333MYO7Ac.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
11g.77198559T>CCA475796400MYO7Ac.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
11g.77198559T>GCA381950334MYO7Ac.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
11g.77198559T=CA1984121107MYO7Ac.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=
11g.77198560G>ACA381950337MYO7Ac.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
11g.77198560G>CCA381950336MYO7Ac.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
11g.77198560G=CA1984121109MYO7Ac.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=
11g.77198560G>TCA381950335MYO7Ac.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
11g.77198561A>CCA381950338MYO7Ac.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
11g.77198561A>GCA381950339MYO7Ac.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
11g.77198561A>TCA381950340MYO7Ac.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
11g.77198562G>ACA475796401MYO7Ac.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
11g.77198562G>CCA381950341MYO7Ac.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
11g.77198562G>TCA381950342MYO7Ac.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
11g.77198563C>ACA381950343MYO7Ac.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
11g.77198563C=CA1984121112MYO7Ac.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=
11g.77198563C>GCA381950344MYO7Ac.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
11g.77198563C>TCA381950345MYO7Ac.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
11g.77198564A>CCA381950346MYO7Ac.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
11g.77198564A>GCA381950347MYO7Ac.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
11g.77198564A>TCA381950348MYO7Ac.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
11g.77198565G>ACA6198465MYO7Ac.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
11g.77198565G>CCA381950349MYO7Ac.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
11g.77198565G=CA1984121114MYO7Ac.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=
11g.77198565G>TCA381950350MYO7Ac.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
11g.77198566G>ACA381950352MYO7Ac.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
11g.77198566G>CCA381950353MYO7Ac.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
11g.77198566G=CA1984121118MYO7Ac.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=
11g.77198566G>TCA381950351MYO7Ac.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
11g.77198567A>CCA381950354MYO7Ac.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
11g.77198567A>GCA381950355MYO7Ac.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
11g.77198567A>TCA381950356MYO7Ac.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
11g.77198568G>ACA475796402MYO7Ac.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
11g.77198568G>CCA381950357MYO7Ac.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
11g.77198568G=CA1984121122MYO7Ac.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=
11g.77198568G>TCA381950358MYO7Ac.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
11g.77198569C>ACA381950359MYO7Ac.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
11g.77198569C=CA1984121125MYO7Ac.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=
11g.77198569C>GCA381950360MYO7Ac.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
11g.77198569C>TCA224848786MYO7Ac.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
11g.77198570A=CA1984121133MYO7Ac.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=
11g.77198570A>CCA381950361MYO7Ac.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
11g.77198570A>GCA381950362MYO7Ac.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
11g.77198570A>TCA381950363MYO7Ac.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
11g.77198571G>ACA475796403MYO7Ac.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
11g.77198571G>CCA381950364MYO7Ac.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
11g.77198571G>TCA381950365MYO7Ac.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
11g.77198572G>ACA6198466MYO7Ac.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
11g.77198572G>CCA381950366MYO7Ac.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
11g.77198572G=CA1984121140MYO7Ac.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=
11g.77198572G>TCA381950367MYO7Ac.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
11g.77198573T>ACA381950368MYO7Ac.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
11g.77198573T>CCA381950369MYO7Ac.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
11g.77198573T>GCA381950370MYO7Ac.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
11g.77198573T=CA1984121143MYO7Ac.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=
11g.77198574A>CCA475796404MYO7Ac.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
11g.77198574A>GCA475796405MYO7Ac.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
11g.77198574A>TCA475796406MYO7Ac.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
11g.77198574_77198575delCA2499221335MYO7Ac.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
11g.77198575C>ACA381950371MYO7Ac.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
11g.77198575C=CA1984121146MYO7Ac.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=
11g.77198575C>GCA381950372MYO7Ac.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
11g.77198575C>TCA381950373MYO7Ac.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
11g.77198576T>ACA381950374MYO7Ac.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
11g.77198576T>CCA381950375MYO7Ac.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
11g.77198576T>GCA381950376MYO7Ac.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
11g.77198577T>ACA475796407MYO7Ac.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
11g.77198577T>CCA475796408MYO7Ac.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
11g.77198577T>GCA475796409MYO7Ac.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
11g.77198578C>ACA381950377MYO7Ac.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
11g.77198578C=CA1984121147MYO7Ac.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=
11g.77198578C>GCA381950378MYO7Ac.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
11g.77198578C>TCA475796410MYO7Ac.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
11g.77198579T>ACA381950379MYO7Ac.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
11g.77198579T>CCA381950381MYO7Ac.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
11g.77198579T>GCA381950380MYO7Ac.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
11g.77198580G>ACA475796411MYO7Ac.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
11g.77198580G>CCA475796412MYO7Ac.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
11g.77198580G=CA1984121149MYO7Ac.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=
11g.77198580G>TCA475796413MYO7Ac.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
11g.77198581G>ACA381950382MYO7Ac.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
11g.77198581G>CCA381950383MYO7Ac.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
11g.77198581G>TCA381950384MYO7Ac.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
11g.77198582A>CCA381950385MYO7Ac.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
11g.77198582A>GCA381950386MYO7Ac.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
11g.77198582A>TCA381950387MYO7Ac.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
11g.77198583G>ACA6198467MYO7Ac.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
11g.77198583G>CCA381950388MYO7Ac.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
11g.77198583G=CA1984121150MYO7Ac.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=
11g.77198583G>TCA381950389MYO7Ac.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
11g.77198584C>ACA381950390MYO7Ac.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
11g.77198584C=CA1984121158MYO7Ac.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=
11g.77198584C>GCA381950391MYO7Ac.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
11g.77198584C>TCA475796414MYO7Ac.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
11g.77198585T>ACA381950392MYO7Ac.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
11g.77198585T>CCA381950393MYO7Ac.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
11g.77198585T>GCA381950394MYO7Ac.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
11g.77198586G>ACA475796415MYO7Ac.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
11g.77198586G>CCA475796416MYO7Ac.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
11g.77198586G>TCA475796417MYO7Ac.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
11g.77198587T>ACA381950397MYO7Ac.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
11g.77198587T>CCA381950395MYO7Ac.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
11g.77198587T>GCA381950396MYO7Ac.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
11g.77198588C>ACA381950398MYO7Ac.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
11g.77198588C>GCA381950399MYO7Ac.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
11g.77198588C>TCA381950400MYO7Ac.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
11g.77198589C>ACA475796418MYO7Ac.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
11g.77198589C=CA1984121167MYO7Ac.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=
11g.77198589C>GCA475796419MYO7Ac.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
11g.77198589C>TCA475796420MYO7Ac.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
11g.77198590T>ACA381950401MYO7Ac.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
11g.77198590T>CCA381950402MYO7Ac.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
11g.77198590T>GCA381950403MYO7Ac.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
11g.77198591T>ACA381950404MYO7Ac.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
11g.77198591T>CCA381950405MYO7Ac.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
11g.77198591T>GCA381950406MYO7Ac.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
11g.77198592C>ACA381950407MYO7Ac.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
11g.77198592C=CA1984121171MYO7Ac.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=
11g.77198592C>GCA381950408MYO7Ac.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
11g.77198592C>TCA6198468MYO7Ac.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
11g.77198593C>ACA381950409MYO7Ac.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
11g.77198593C>GCA381950411MYO7Ac.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
11g.77198593C>TCA381950410MYO7Ac.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
11g.77198594C>ACA381950412MYO7Ac.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
11g.77198594C>GCA381950413MYO7Ac.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
11g.77198594C>TCA381950414MYO7Ac.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
11g.77198595A>CCA475796421MYO7Ac.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
11g.77198595A>GCA475796423MYO7Ac.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
11g.77198595A>TCA475796422MYO7Ac.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
11g.77198596G>ACA6198469MYO7Ac.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
11g.77198596G>CCA381950415MYO7Ac.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
11g.77198596G=CA1984121186MYO7Ac.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=
11g.77198596G>TCA381950416MYO7Ac.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
11g.77198596_77198600delinsGAGATCA1984121188MYO7Ac.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
11g.77198596_77198604delinsGAGATCATGCA1984121181MYO7Ac.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
11g.77198597A=CA1984121198MYO7Ac.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=
11g.77198597A>CCA381950417MYO7Ac.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
11g.77198597A>GCA6198471MYO7Ac.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
11g.77198597A>TCA381950418MYO7Ac.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
11g.77198597_77198600delCA6198470MYO7Ac.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
11g.77198597_77198604delinsCACA278670MYO7Ac.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
11g.77198598G>ACA475796424MYO7Ac.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
11g.77198598G>CCA381950419MYO7Ac.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
11g.77198598G>TCA381950420MYO7Ac.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
11g.77198599A>CCA381950421MYO7Ac.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
11g.77198599A>GCA381950423MYO7Ac.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
11g.77198599A>TCA381950422MYO7Ac.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
11g.77198600T>ACA381950424MYO7Ac.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
11g.77198600T>CCA381950425MYO7Ac.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
11g.77198600T>GCA381950426MYO7Ac.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
11g.77198600T=CA1984121205MYO7Ac.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=
11g.77198601C>ACA475796425MYO7Ac.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
11g.77198601C=CA1984121210MYO7Ac.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=
11g.77198601C>GCA381950427MYO7Ac.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
11g.77198601C>TCA475796426MYO7Ac.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
11g.77198602A>CCA381950428MYO7Ac.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
11g.77198602A>GCA381950429MYO7Ac.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
11g.77198602A>TCA381950430MYO7Ac.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
11g.77198602_77198604delinsATGCA1984121214MYO7Ac.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
11g.77198603T>ACA224848811MYO7Ac.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
11g.77198603T>CCA381950431MYO7Ac.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
11g.77198603T>GCA381950432MYO7Ac.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
11g.77198603T=CA1984121226MYO7Ac.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=
11g.77198603_77198604delCA6198472MYO7Ac.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
11g.77198604G>ACA381950434MYO7Ac.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
11g.77198604G>CCA381950435MYO7Ac.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
11g.77198604G=CA1984121230MYO7Ac.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=
11g.77198604G>TCA381950433MYO7Ac.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
11g.77198605G>ACA381950437MYO7Ac.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
11g.77198605G>CCA381950436MYO7Ac.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
11g.77198605G>TCA381950438MYO7Ac.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
11g.77198606C>ACA381950439MYO7Ac.4553C>A (p.Ala1518Asp)
c.2394C>A
c.4520C>A (p.Ala1507Asp)
c.2096C>A (p.Ala699Asp)
n.2206C>A
c.4661C>A (p.Ala1554Asp)
c.4571C>A (p.Ala1524Asp)
c.4442C>A (p.Ala1481Asp)
c.4430C>A (p.Ala1477Asp)
c.4403C>A (p.Ala1468Asp)
n.4873C>A
n.4875C>A
c.4643C>A (p.Ala1548Asp)
c.4751C>A (p.Ala1584Asp)
n.4658C>A
11g.77198606C=CA1984121234MYO7Ac.4553C= (p.Ala1518=)
c.2394C=
c.4520C= (p.Ala1507=)
c.2096C= (p.Ala699=)
n.2206C=
c.4661C= (p.Ala1554=)
c.4571C= (p.Ala1524=)
c.4442C= (p.Ala1481=)
c.4430C= (p.Ala1477=)
c.4403C= (p.Ala1468=)
n.4873C=
n.4875C=
c.4643C= (p.Ala1548=)
c.4751C= (p.Ala1584=)
n.4658C=
11g.77198606C>GCA381950440MYO7Ac.4553C>G (p.Ala1518Gly)
c.2394C>G
c.4520C>G (p.Ala1507Gly)
c.2096C>G (p.Ala699Gly)
n.2206C>G
c.4661C>G (p.Ala1554Gly)
c.4571C>G (p.Ala1524Gly)
c.4442C>G (p.Ala1481Gly)
c.4430C>G (p.Ala1477Gly)
c.4403C>G (p.Ala1468Gly)
n.4873C>G
n.4875C>G
c.4643C>G (p.Ala1548Gly)
c.4751C>G (p.Ala1584Gly)
n.4658C>G
11g.77198606C>TCA6198473MYO7Ac.4553C>T (p.Ala1518Val)
c.2394C>T
c.4520C>T (p.Ala1507Val)
c.2096C>T (p.Ala699Val)
n.2206C>T
c.4661C>T (p.Ala1554Val)
c.4571C>T (p.Ala1524Val)
c.4442C>T (p.Ala1481Val)
c.4430C>T (p.Ala1477Val)
c.4403C>T (p.Ala1468Val)
n.4873C>T
n.4875C>T
c.4643C>T (p.Ala1548Val)
c.4751C>T (p.Ala1584Val)
n.4658C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77198607C>ACA475796427MYO7Ac.4554C>A (p.Ala1518=)
c.2395C>A
c.4521C>A (p.Ala1507=)
c.2097C>A (p.Ala699=)
n.2207C>A
c.4662C>A (p.Ala1554=)
c.4572C>A (p.Ala1524=)
c.4443C>A (p.Ala1481=)
c.4431C>A (p.Ala1477=)
c.4404C>A (p.Ala1468=)
n.4874C>A
n.4876C>A
c.4644C>A (p.Ala1548=)
c.4752C>A (p.Ala1584=)
n.4659C>A
11g.77198607C=CA1984121237MYO7Ac.4554C= (p.Ala1518=)
c.2395C=
c.4521C= (p.Ala1507=)
c.2097C= (p.Ala699=)
n.2207C=
c.4662C= (p.Ala1554=)
c.4572C= (p.Ala1524=)
c.4443C= (p.Ala1481=)
c.4431C= (p.Ala1477=)
c.4404C= (p.Ala1468=)
n.4874C=
n.4876C=
c.4644C= (p.Ala1548=)
c.4752C= (p.Ala1584=)
n.4659C=
11g.77198607C>GCA475796428MYO7Ac.4554C>G (p.Ala1518=)
c.2395C>G
c.4521C>G (p.Ala1507=)
c.2097C>G (p.Ala699=)
n.2207C>G
c.4662C>G (p.Ala1554=)
c.4572C>G (p.Ala1524=)
c.4443C>G (p.Ala1481=)
c.4431C>G (p.Ala1477=)
c.4404C>G (p.Ala1468=)
n.4874C>G
n.4876C>G
c.4644C>G (p.Ala1548=)
c.4752C>G (p.Ala1584=)
n.4659C>G
11g.77198607C>TCA475796429MYO7Ac.4554C>T (p.Ala1518=)
c.2395C>T
c.4521C>T (p.Ala1507=)
c.2097C>T (p.Ala699=)
n.2207C>T
c.4662C>T (p.Ala1554=)
c.4572C>T (p.Ala1524=)
c.4443C>T (p.Ala1481=)
c.4431C>T (p.Ala1477=)
c.4404C>T (p.Ala1468=)
n.4874C>T
n.4876C>T
c.4644C>T (p.Ala1548=)
c.4752C>T (p.Ala1584=)
n.4659C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77198607_77198608delinsCGCA1984121241MYO7Ac.4554_4555delinsCG (p.Ala1518=)
c.2395_2396delinsCG
c.4521_4522delinsCG (p.Ala1507=)
c.2097_2098delinsCG (p.Ala699=)
n.2207_2208delinsCG
c.4662_4663delinsCG (p.Ala1554=)
c.4572_4573delinsCG (p.Ala1524=)
c.4443_4444delinsCG (p.Ala1481=)
c.4431_4432delinsCG (p.Ala1477=)
c.4404_4405delinsCG (p.Ala1468=)
n.4874_4875delinsCG
n.4876_4877delinsCG
c.4644_4645delinsCG (p.Ala1548=)
c.4752_4753delinsCG (p.Ala1584=)
n.4659_4660delinsCG
11g.77198608delCA10576902MYO7Ac.4555del (p.Val1519CysfsTer30)
c.2396del
c.4522del (p.Val1508CysfsTer?)
c.2098del (p.Val700CysfsTer?)
c.4555del (p.Val1519CysfsTer?)
n.2208del
c.4663del (p.Val1555CysfsTer?)
c.4522del (p.Val1508CysfsTer30)
c.4573del (p.Val1525CysfsTer?)
c.4444del (p.Val1482CysfsTer?)
c.4432del (p.Val1478CysfsTer?)
c.4405del (p.Val1469CysfsTer?)
n.4875del
n.4877del
c.4645del (p.Val1549CysfsTer30)
c.4753del (p.Val1585CysfsTer?)
c.4645del (p.Val1549CysfsTer?)
n.4660del
 ClinVar dbSNP gnomAD v4
11g.77198608G>ACA6198474MYO7Ac.4555G>A (p.Val1519Met)
c.2396G>A
c.4522G>A (p.Val1508Met)
c.2098G>A (p.Val700Met)
n.2208G>A
c.4663G>A (p.Val1555Met)
c.4573G>A (p.Val1525Met)
c.4444G>A (p.Val1482Met)
c.4432G>A (p.Val1478Met)
c.4405G>A (p.Val1469Met)
n.4875G>A
n.4877G>A
c.4645G>A (p.Val1549Met)
c.4753G>A (p.Val1585Met)
n.4660G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77198608G>CCA381950441MYO7Ac.4555G>C (p.Val1519Leu)
c.2396G>C
c.4522G>C (p.Val1508Leu)
c.2098G>C (p.Val700Leu)
n.2208G>C
c.4663G>C (p.Val1555Leu)
c.4573G>C (p.Val1525Leu)
c.4444G>C (p.Val1482Leu)
c.4432G>C (p.Val1478Leu)
c.4405G>C (p.Val1469Leu)
n.4875G>C
n.4877G>C
c.4645G>C (p.Val1549Leu)
c.4753G>C (p.Val1585Leu)
n.4660G>C
11g.77198608G=CA1984121273MYO7Ac.4555G= (p.Val1519=)
c.2396G=
c.4522G= (p.Val1508=)
c.2098G= (p.Val700=)
n.2208G=
c.4663G= (p.Val1555=)
c.4573G= (p.Val1525=)
c.4444G= (p.Val1482=)
c.4432G= (p.Val1478=)
c.4405G= (p.Val1469=)
n.4875G=
n.4877G=
c.4645G= (p.Val1549=)
c.4753G= (p.Val1585=)
n.4660G=
11g.77198608G>TCA381950442MYO7Ac.4555G>T (p.Val1519Leu)
c.2396G>T
c.4522G>T (p.Val1508Leu)
c.2098G>T (p.Val700Leu)
n.2208G>T
c.4663G>T (p.Val1555Leu)
c.4573G>T (p.Val1525Leu)
c.4444G>T (p.Val1482Leu)
c.4432G>T (p.Val1478Leu)
c.4405G>T (p.Val1469Leu)
n.4875G>T
n.4877G>T
c.4645G>T (p.Val1549Leu)
c.4753G>T (p.Val1585Leu)
n.4660G>T
 dbSNP gnomAD v3 gnomAD v4
11g.77198609T>ACA381950443MYO7Ac.4556T>A (p.Val1519Glu)
c.2397T>A
c.4523T>A (p.Val1508Glu)
c.2099T>A (p.Val700Glu)
n.2209T>A
c.4664T>A (p.Val1555Glu)
c.4574T>A (p.Val1525Glu)
c.4445T>A (p.Val1482Glu)
c.4433T>A (p.Val1478Glu)
c.4406T>A (p.Val1469Glu)
n.4876T>A
n.4878T>A
c.4646T>A (p.Val1549Glu)
c.4754T>A (p.Val1585Glu)
n.4661T>A
11g.77198609T>CCA381950444MYO7Ac.4556T>C (p.Val1519Ala)
c.2397T>C
c.4523T>C (p.Val1508Ala)
c.2099T>C (p.Val700Ala)
n.2209T>C
c.4664T>C (p.Val1555Ala)
c.4574T>C (p.Val1525Ala)
c.4445T>C (p.Val1482Ala)
c.4433T>C (p.Val1478Ala)
c.4406T>C (p.Val1469Ala)
n.4876T>C
n.4878T>C
c.4646T>C (p.Val1549Ala)
c.4754T>C (p.Val1585Ala)
n.4661T>C
11g.77198609T>GCA381950445MYO7Ac.4556T>G (p.Val1519Gly)
c.2397T>G
c.4523T>G (p.Val1508Gly)
c.2099T>G (p.Val700Gly)
n.2209T>G
c.4664T>G (p.Val1555Gly)
c.4574T>G (p.Val1525Gly)
c.4445T>G (p.Val1482Gly)
c.4433T>G (p.Val1478Gly)
c.4406T>G (p.Val1469Gly)
n.4876T>G
n.4878T>G
c.4646T>G (p.Val1549Gly)
c.4754T>G (p.Val1585Gly)
n.4661T>G
11g.77198610G>ACA475796430MYO7Ac.4557G>A (p.Val1519=)
c.2398G>A
c.4524G>A (p.Val1508=)
c.2100G>A (p.Val700=)
n.2210G>A
c.4665G>A (p.Val1555=)
c.4575G>A (p.Val1525=)
c.4446G>A (p.Val1482=)
c.4434G>A (p.Val1478=)
c.4407G>A (p.Val1469=)
n.4877G>A
n.4879G>A
c.4647G>A (p.Val1549=)
c.4755G>A (p.Val1585=)
n.4662G>A
11g.77198610G>CCA475796431MYO7Ac.4557G>C (p.Val1519=)
c.2398G>C
c.4524G>C (p.Val1508=)
c.2100G>C (p.Val700=)
n.2210G>C
c.4665G>C (p.Val1555=)
c.4575G>C (p.Val1525=)
c.4446G>C (p.Val1482=)
c.4434G>C (p.Val1478=)
c.4407G>C (p.Val1469=)
n.4877G>C
n.4879G>C
c.4647G>C (p.Val1549=)
c.4755G>C (p.Val1585=)
n.4662G>C
11g.77198610G>TCA475796432MYO7Ac.4557G>T (p.Val1519=)
c.2398G>T
c.4524G>T (p.Val1508=)
c.2100G>T (p.Val700=)
n.2210G>T
c.4665G>T (p.Val1555=)
c.4575G>T (p.Val1525=)
c.4446G>T (p.Val1482=)
c.4434G>T (p.Val1478=)
c.4407G>T (p.Val1469=)
n.4877G>T
n.4879G>T
c.4647G>T (p.Val1549=)
c.4755G>T (p.Val1585=)
n.4662G>T
11g.77198611T>ACA381950446MYO7Ac.4558T>A (p.Ser1520Thr)
c.2399T>A
c.4525T>A (p.Ser1509Thr)
c.2101T>A (p.Ser701Thr)
n.2211T>A
c.4666T>A (p.Ser1556Thr)
c.4576T>A (p.Ser1526Thr)
c.4447T>A (p.Ser1483Thr)
c.4435T>A (p.Ser1479Thr)
c.4408T>A (p.Ser1470Thr)
n.4878T>A
n.4880T>A
c.4648T>A (p.Ser1550Thr)
c.4756T>A (p.Ser1586Thr)
n.4663T>A
11g.77198611T>CCA381950447MYO7Ac.4558T>C (p.Ser1520Pro)
c.2399T>C
c.4525T>C (p.Ser1509Pro)
c.2101T>C (p.Ser701Pro)
n.2211T>C
c.4666T>C (p.Ser1556Pro)
c.4576T>C (p.Ser1526Pro)
c.4447T>C (p.Ser1483Pro)
c.4435T>C (p.Ser1479Pro)
c.4408T>C (p.Ser1470Pro)
n.4878T>C
n.4880T>C
c.4648T>C (p.Ser1550Pro)
c.4756T>C (p.Ser1586Pro)
n.4663T>C
11g.77198611T>GCA381950448MYO7Ac.4558T>G (p.Ser1520Ala)
c.2399T>G
c.4525T>G (p.Ser1509Ala)
c.2101T>G (p.Ser701Ala)
n.2211T>G
c.4666T>G (p.Ser1556Ala)
c.4576T>G (p.Ser1526Ala)
c.4447T>G (p.Ser1483Ala)
c.4435T>G (p.Ser1479Ala)
c.4408T>G (p.Ser1470Ala)
n.4878T>G
n.4880T>G
c.4648T>G (p.Ser1550Ala)
c.4756T>G (p.Ser1586Ala)
n.4663T>G

Number of alleles fetched