Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77156640G>ACA2615251671MYO7Ac.471-20G>A (n.471-20G>A)
c.438-20G>A (n.438-20G>A)
c.213-20G>A (n.213-20G>A)
n.791-20G>A
n.793-20G>A
c.561-20G>A (n.561-20G>A)
n.576-20G>A
 gnomAD v4
11g.77156642C>TCA2574930702MYO7Ac.471-18C>T (n.471-18C>T)
c.438-18C>T (n.438-18C>T)
c.213-18C>T (n.213-18C>T)
n.791-18C>T
n.793-18C>T
c.561-18C>T (n.561-18C>T)
n.576-18C>T
 gnomAD v4
11g.77156643A>CCA2573147715MYO7Ac.471-17A>C (n.471-17A>C)
c.438-17A>C (n.438-17A>C)
c.213-17A>C (n.213-17A>C)
n.791-17A>C
n.793-17A>C
c.561-17A>C (n.561-17A>C)
n.576-17A>C
 ClinVar dbSNP
11g.77156644C>GCA2615251676MYO7Ac.471-16C>G (n.471-16C>G)
c.438-16C>G (n.438-16C>G)
c.213-16C>G (n.213-16C>G)
n.791-16C>G
n.793-16C>G
c.561-16C>G (n.561-16C>G)
n.576-16C>G
 gnomAD v4
11g.77156645T>CCA2573147716MYO7Ac.471-15T>C (n.471-15T>C)
c.438-15T>C (n.438-15T>C)
c.213-15T>C (n.213-15T>C)
n.791-15T>C
n.793-15T>C
c.561-15T>C (n.561-15T>C)
n.576-15T>C
 ClinVar dbSNP
11g.77156646C=CA1984095065MYO7Ac.471-14C= (n.471-14C=)
c.438-14C= (n.438-14C=)
c.213-14C= (n.213-14C=)
n.791-14C=
n.793-14C=
c.561-14C= (n.561-14C=)
n.576-14C=
11g.77156646C>TCA6197151MYO7Ac.471-14C>T (n.471-14C>T)
c.438-14C>T (n.438-14C>T)
c.213-14C>T (n.213-14C>T)
n.791-14C>T
n.793-14C>T
c.561-14C>T (n.561-14C>T)
n.576-14C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156647C=CA1984095066MYO7Ac.471-13C= (n.471-13C=)
c.438-13C= (n.438-13C=)
c.213-13C= (n.213-13C=)
n.791-13C=
n.793-13C=
c.561-13C= (n.561-13C=)
n.576-13C=
11g.77156647C>GCA2574930703MYO7Ac.471-13C>G (n.471-13C>G)
c.438-13C>G (n.438-13C>G)
c.213-13C>G (n.213-13C>G)
n.791-13C>G
n.793-13C>G
c.561-13C>G (n.561-13C>G)
n.576-13C>G
11g.77156647C>TCA6197152MYO7Ac.471-13C>T (n.471-13C>T)
c.438-13C>T (n.438-13C>T)
c.213-13C>T (n.213-13C>T)
n.791-13C>T
n.793-13C>T
c.561-13C>T (n.561-13C>T)
n.576-13C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156648C>ACA1984095068MYO7Ac.471-12C>A (n.471-12C>A)
c.438-12C>A (n.438-12C>A)
c.213-12C>A (n.213-12C>A)
n.791-12C>A
n.793-12C>A
c.561-12C>A (n.561-12C>A)
n.576-12C>A
 ClinVar dbSNP
11g.77156648C=CA1984095067MYO7Ac.471-12C= (n.471-12C=)
c.438-12C= (n.438-12C=)
c.213-12C= (n.213-12C=)
n.791-12C=
n.793-12C=
c.561-12C= (n.561-12C=)
n.576-12C=
11g.77156648C>GCA2697548836MYO7Ac.471-12C>G (n.471-12C>G)
c.438-12C>G (n.438-12C>G)
c.213-12C>G (n.213-12C>G)
n.791-12C>G
n.793-12C>G
c.561-12C>G (n.561-12C>G)
n.576-12C>G
 ClinVar
11g.77156648C>TCA2574930704MYO7Ac.471-12C>T (n.471-12C>T)
c.438-12C>T (n.438-12C>T)
c.213-12C>T (n.213-12C>T)
n.791-12C>T
n.793-12C>T
c.561-12C>T (n.561-12C>T)
n.576-12C>T
 ClinVar gnomAD v4
11g.77156649T>GCA600710560MYO7Ac.471-11T>G (n.471-11T>G)
c.438-11T>G (n.438-11T>G)
c.213-11T>G (n.213-11T>G)
n.791-11T>G
n.793-11T>G
c.561-11T>G (n.561-11T>G)
n.576-11T>G
 dbSNP gnomAD v2 gnomAD v4
11g.77156649T=CA1984095069MYO7Ac.471-11T= (n.471-11T=)
c.438-11T= (n.438-11T=)
c.213-11T= (n.213-11T=)
n.791-11T=
n.793-11T=
c.561-11T= (n.561-11T=)
n.576-11T=
11g.77156650C>GCA2615251693MYO7Ac.471-10C>G (n.471-10C>G)
c.438-10C>G (n.438-10C>G)
c.213-10C>G (n.213-10C>G)
n.791-10C>G
n.793-10C>G
c.561-10C>G (n.561-10C>G)
n.576-10C>G
 gnomAD v4
11g.77156650C>TCA2574930705MYO7Ac.471-10C>T (n.471-10C>T)
c.438-10C>T (n.438-10C>T)
c.213-10C>T (n.213-10C>T)
n.791-10C>T
n.793-10C>T
c.561-10C>T (n.561-10C>T)
n.576-10C>T
 ClinVar
11g.77156651C=CA1984095072MYO7Ac.471-9C= (n.471-9C=)
c.438-9C= (n.438-9C=)
c.213-9C= (n.213-9C=)
n.791-9C=
n.793-9C=
c.561-9C= (n.561-9C=)
n.576-9C=
11g.77156651C>GCA224826868MYO7Ac.471-9C>G (n.471-9C>G)
c.438-9C>G (n.438-9C>G)
c.213-9C>G (n.213-9C>G)
n.791-9C>G
n.793-9C>G
c.561-9C>G (n.561-9C>G)
n.576-9C>G
 dbSNP
11g.77156652C=CA1984095074MYO7Ac.471-8C= (n.471-8C=)
c.438-8C= (n.438-8C=)
c.213-8C= (n.213-8C=)
n.791-8C=
n.793-8C=
c.561-8C= (n.561-8C=)
n.576-8C=
11g.77156652C>TCA680363028MYO7Ac.471-8C>T (n.471-8C>T)
c.438-8C>T (n.438-8C>T)
c.213-8C>T (n.213-8C>T)
n.791-8C>T
n.793-8C>T
c.561-8C>T (n.561-8C>T)
n.576-8C>T
 dbSNP gnomAD v3 gnomAD v4
11g.77156654C=CA1984095075MYO7Ac.471-6C= (n.471-6C=)
c.438-6C= (n.438-6C=)
c.213-6C= (n.213-6C=)
n.791-6C=
n.793-6C=
c.561-6C= (n.561-6C=)
n.576-6C=
11g.77156654C>GCA2615251696MYO7Ac.471-6C>G (n.471-6C>G)
c.438-6C>G (n.438-6C>G)
c.213-6C>G (n.213-6C>G)
n.791-6C>G
n.793-6C>G
c.561-6C>G (n.561-6C>G)
n.576-6C>G
 gnomAD v4
11g.77156654C>TCA1984095076MYO7Ac.471-6C>T (n.471-6C>T)
c.438-6C>T (n.438-6C>T)
c.213-6C>T (n.213-6C>T)
n.791-6C>T
n.793-6C>T
c.561-6C>T (n.561-6C>T)
n.576-6C>T
 ClinVar dbSNP
11g.77156655T>ACA224826869MYO7Ac.471-5T>A (n.471-5T>A)
c.438-5T>A (n.438-5T>A)
c.213-5T>A (n.213-5T>A)
n.791-5T>A
n.793-5T>A
c.561-5T>A (n.561-5T>A)
n.576-5T>A
 dbSNP
11g.77156655T=CA1984095077MYO7Ac.471-5T= (n.471-5T=)
c.438-5T= (n.438-5T=)
c.213-5T= (n.213-5T=)
n.791-5T=
n.793-5T=
c.561-5T= (n.561-5T=)
n.576-5T=
11g.77156656G>ACA224826870MYO7Ac.471-4G>A (n.471-4G>A)
c.438-4G>A (n.438-4G>A)
c.213-4G>A (n.213-4G>A)
n.791-4G>A
n.793-4G>A
c.561-4G>A (n.561-4G>A)
n.576-4G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77156656G=CA1984095079MYO7Ac.471-4G= (n.471-4G=)
c.438-4G= (n.438-4G=)
c.213-4G= (n.213-4G=)
n.791-4G=
n.793-4G=
c.561-4G= (n.561-4G=)
n.576-4G=
11g.77156656G>TCA2615251705MYO7Ac.471-4G>T (n.471-4G>T)
c.438-4G>T (n.438-4G>T)
c.213-4G>T (n.213-4G>T)
n.791-4G>T
n.793-4G>T
c.561-4G>T (n.561-4G>T)
n.576-4G>T
 gnomAD v4
11g.77156657C>TCA2574930706MYO7Ac.471-3C>T (n.471-3C>T)
c.438-3C>T (n.438-3C>T)
c.213-3C>T (n.213-3C>T)
n.791-3C>T
n.793-3C>T
c.561-3C>T (n.561-3C>T)
n.576-3C>T
11g.77156658A=CA1984095084MYO7Ac.471-2A= (n.471-2A=)
c.438-2A= (n.438-2A=)
c.213-2A= (n.213-2A=)
n.791-2A=
n.793-2A=
c.561-2A= (n.561-2A=)
n.576-2A=
11g.77156658A>CCA381931732MYO7Ac.471-2A>C (n.471-2A>C)
c.438-2A>C (n.438-2A>C)
c.213-2A>C (n.213-2A>C)
n.791-2A>C
n.793-2A>C
c.561-2A>C (n.561-2A>C)
n.576-2A>C
 ClinVar dbSNP gnomAD v4
11g.77156658A>GCA381931731MYO7Ac.471-2A>G (n.471-2A>G)
c.438-2A>G (n.438-2A>G)
c.213-2A>G (n.213-2A>G)
n.791-2A>G
n.793-2A>G
c.561-2A>G (n.561-2A>G)
n.576-2A>G
11g.77156658A>TCA381931730MYO7Ac.471-2A>T (n.471-2A>T)
c.438-2A>T (n.438-2A>T)
c.213-2A>T (n.213-2A>T)
n.791-2A>T
n.793-2A>T
c.561-2A>T (n.561-2A>T)
n.576-2A>T
11g.77156659G>ACA6197153MYO7Ac.471-1G>A (n.471-1G>A)
c.438-1G>A (n.438-1G>A)
c.213-1G>A (n.213-1G>A)
n.791-1G>A
n.793-1G>A
c.561-1G>A (n.561-1G>A)
n.576-1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156659G>CCA381931733MYO7Ac.471-1G>C (n.471-1G>C)
c.438-1G>C (n.438-1G>C)
c.213-1G>C (n.213-1G>C)
n.791-1G>C
n.793-1G>C
c.561-1G>C (n.561-1G>C)
n.576-1G>C
11g.77156659G=CA1984095095MYO7Ac.471-1G= (n.471-1G=)
c.438-1G= (n.438-1G=)
c.213-1G= (n.213-1G=)
n.791-1G=
n.793-1G=
c.561-1G= (n.561-1G=)
n.576-1G=
11g.77156659G>TCA381931734MYO7Ac.471-1G>T (n.471-1G>T)
c.438-1G>T (n.438-1G>T)
c.213-1G>T (n.213-1G>T)
n.791-1G>T
n.793-1G>T
c.561-1G>T (n.561-1G>T)
n.576-1G>T
11g.77156660T>ACA381931735MYO7Ac.471T>A (p.Ser157Arg)
c.438T>A (p.Ser146Arg)
c.213T>A (p.Ser71Arg)
n.791T>A
n.793T>A
c.561T>A (p.Ser187Arg)
n.576T>A
11g.77156660T>CCA6197154MYO7Ac.471T>C (p.Ser157=)
c.438T>C (p.Ser146=)
c.213T>C (p.Ser71=)
n.791T>C
n.793T>C
c.561T>C (p.Ser187=)
n.576T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156660T>GCA381931736MYO7Ac.471T>G (p.Ser157Arg)
c.438T>G (p.Ser146Arg)
c.213T>G (p.Ser71Arg)
n.791T>G
n.793T>G
c.561T>G (p.Ser187Arg)
n.576T>G
11g.77156660T=CA1984095104MYO7Ac.471T= (p.Ser157=)
c.438T= (p.Ser146=)
c.213T= (p.Ser71=)
n.791T=
n.793T=
c.561T= (p.Ser187=)
n.576T=
11g.77156660_77156663delinsTGGGCA1984095108MYO7Ac.471_474delinsTGGG (p.Ser157=)
c.438_441delinsTGGG (p.Ser146=)
c.213_216delinsTGGG (p.Ser71=)
n.791_794delinsTGGG
n.793_796delinsTGGG
c.561_564delinsTGGG (p.Ser187=)
n.576_579delinsTGGG
11g.77156661G>ACA381931737MYO7Ac.472G>A (p.Gly158Arg)
c.439G>A (p.Gly147Arg)
c.214G>A (p.Gly72Arg)
n.792G>A
n.794G>A
c.562G>A (p.Gly188Arg)
n.577G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156661G>CCA381931738MYO7Ac.472G>C (p.Gly158Arg)
c.439G>C (p.Gly147Arg)
c.214G>C (p.Gly72Arg)
n.792G>C
n.794G>C
c.562G>C (p.Gly188Arg)
n.577G>C
11g.77156661G=CA1984095110MYO7Ac.472G= (p.Gly158=)
c.439G= (p.Gly147=)
c.214G= (p.Gly72=)
n.792G=
n.794G=
c.562G= (p.Gly188=)
n.577G=
11g.77156661G>TCA381931739MYO7Ac.472G>T (p.Gly158Trp)
c.439G>T (p.Gly147Trp)
c.214G>T (p.Gly72Trp)
n.792G>T
n.794G>T
c.562G>T (p.Gly188Trp)
n.577G>T
 COSMIC
11g.77156662_77156664delCA680363043MYO7Ac.473_475del (p.Gly158del)
c.440_442del (p.Gly147del)
c.215_217del (p.Gly72del)
n.793_795del
n.795_797del
c.563_565del (p.Gly188del)
n.578_580del
 ClinVar dbSNP
11g.77156662G>ACA381931740MYO7Ac.473G>A (p.Gly158Glu)
c.440G>A (p.Gly147Glu)
c.215G>A (p.Gly72Glu)
n.793G>A
n.795G>A
c.563G>A (p.Gly188Glu)
n.578G>A
11g.77156662G>CCA381931741MYO7Ac.473G>C (p.Gly158Ala)
c.440G>C (p.Gly147Ala)
c.215G>C (p.Gly72Ala)
n.793G>C
n.795G>C
c.563G>C (p.Gly188Ala)
n.578G>C
11g.77156662G>TCA381931742MYO7Ac.473G>T (p.Gly158Val)
c.440G>T (p.Gly147Val)
c.215G>T (p.Gly72Val)
n.793G>T
n.795G>T
c.563G>T (p.Gly188Val)
n.578G>T
11g.77156663G>ACA475886832MYO7Ac.474G>A (p.Gly158=)
c.441G>A (p.Gly147=)
c.216G>A (p.Gly72=)
n.794G>A
n.796G>A
c.564G>A (p.Gly188=)
n.579G>A
 dbSNP
11g.77156663G>CCA475886833MYO7Ac.474G>C (p.Gly158=)
c.441G>C (p.Gly147=)
c.216G>C (p.Gly72=)
n.794G>C
n.796G>C
c.564G>C (p.Gly188=)
n.579G>C
11g.77156663G>TCA475886834MYO7Ac.474G>T (p.Gly158=)
c.441G>T (p.Gly147=)
c.216G>T (p.Gly72=)
n.794G>T
n.796G>T
c.564G>T (p.Gly188=)
n.579G>T
11g.77156664G>ACA381931743MYO7Ac.475G>A (p.Glu159Lys)
c.442G>A (p.Glu148Lys)
c.217G>A (p.Glu73Lys)
n.795G>A
n.797G>A
c.565G>A (p.Glu189Lys)
n.580G>A
11g.77156664G>CCA381931745MYO7Ac.475G>C (p.Glu159Gln)
c.442G>C (p.Glu148Gln)
c.217G>C (p.Glu73Gln)
n.795G>C
n.797G>C
c.565G>C (p.Glu189Gln)
n.580G>C
11g.77156664G>TCA381931744MYO7Ac.475G>T (p.Glu159Ter)
c.442G>T (p.Glu148Ter)
c.217G>T (p.Glu73Ter)
n.795G>T
n.797G>T
c.565G>T (p.Glu189Ter)
n.580G>T
11g.77156665A=CA1984095113MYO7Ac.476A= (p.Glu159=)
c.443A= (p.Glu148=)
c.218A= (p.Glu73=)
n.796A=
n.798A=
c.566A= (p.Glu189=)
n.581A=
11g.77156665A>CCA381931746MYO7Ac.476A>C (p.Glu159Ala)
c.443A>C (p.Glu148Ala)
c.218A>C (p.Glu73Ala)
n.796A>C
n.798A>C
c.566A>C (p.Glu189Ala)
n.581A>C
11g.77156665A>GCA224826882MYO7Ac.476A>G (p.Glu159Gly)
c.443A>G (p.Glu148Gly)
c.218A>G (p.Glu73Gly)
n.796A>G
n.798A>G
c.566A>G (p.Glu189Gly)
n.581A>G
 dbSNP
11g.77156665A>TCA381931747MYO7Ac.476A>T (p.Glu159Val)
c.443A>T (p.Glu148Val)
c.218A>T (p.Glu73Val)
n.796A>T
n.798A>T
c.566A>T (p.Glu189Val)
n.581A>T
11g.77156666A=CA1984095119MYO7Ac.477A= (p.Glu159=)
c.444A= (p.Glu148=)
c.219A= (p.Glu73=)
n.797A=
n.799A=
c.567A= (p.Glu189=)
n.582A=
11g.77156666A>CCA381931748MYO7Ac.477A>C (p.Glu159Asp)
c.444A>C (p.Glu148Asp)
c.219A>C (p.Glu73Asp)
n.797A>C
n.799A>C
c.567A>C (p.Glu189Asp)
n.582A>C
11g.77156666A>GCA6197155MYO7Ac.477A>G (p.Glu159=)
c.444A>G (p.Glu148=)
c.219A>G (p.Glu73=)
n.797A>G
n.799A>G
c.567A>G (p.Glu189=)
n.582A>G
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.77156666A>TCA381931749MYO7Ac.477A>T (p.Glu159Asp)
c.444A>T (p.Glu148Asp)
c.219A>T (p.Glu73Asp)
n.797A>T
n.799A>T
c.567A>T (p.Glu189Asp)
n.582A>T
11g.77156667T>ACA381931750MYO7Ac.478T>A (p.Ser160Thr)
c.445T>A (p.Ser149Thr)
c.220T>A (p.Ser74Thr)
n.798T>A
n.800T>A
c.568T>A (p.Ser190Thr)
n.583T>A
11g.77156667T>CCA381931751MYO7Ac.478T>C (p.Ser160Pro)
c.445T>C (p.Ser149Pro)
c.220T>C (p.Ser74Pro)
n.798T>C
n.800T>C
c.568T>C (p.Ser190Pro)
n.583T>C
11g.77156667T>GCA381931752MYO7Ac.478T>G (p.Ser160Ala)
c.445T>G (p.Ser149Ala)
c.220T>G (p.Ser74Ala)
n.798T>G
n.800T>G
c.568T>G (p.Ser190Ala)
n.583T>G
11g.77156668C>ACA381931753MYO7Ac.479C>A (p.Ser160Tyr)
c.446C>A (p.Ser149Tyr)
c.221C>A (p.Ser74Tyr)
n.799C>A
n.801C>A
c.569C>A (p.Ser190Tyr)
n.584C>A
11g.77156668C>GCA381931754MYO7Ac.479C>G (p.Ser160Cys)
c.446C>G (p.Ser149Cys)
c.221C>G (p.Ser74Cys)
n.799C>G
n.801C>G
c.569C>G (p.Ser190Cys)
n.584C>G
11g.77156668C>TCA381931755MYO7Ac.479C>T (p.Ser160Phe)
c.446C>T (p.Ser149Phe)
c.221C>T (p.Ser74Phe)
n.799C>T
n.801C>T
c.569C>T (p.Ser190Phe)
n.584C>T
11g.77156669T>ACA475886845MYO7Ac.480T>A (p.Ser160=)
c.447T>A (p.Ser149=)
c.222T>A (p.Ser74=)
n.800T>A
n.802T>A
c.570T>A (p.Ser190=)
n.585T>A
11g.77156669T>CCA475886846MYO7Ac.480T>C (p.Ser160=)
c.447T>C (p.Ser149=)
c.222T>C (p.Ser74=)
n.800T>C
n.802T>C
c.570T>C (p.Ser190=)
n.585T>C
11g.77156669T>GCA475886848MYO7Ac.480T>G (p.Ser160=)
c.447T>G (p.Ser149=)
c.222T>G (p.Ser74=)
n.800T>G
n.802T>G
c.570T>G (p.Ser190=)
n.585T>G
 dbSNP gnomAD v2 gnomAD v4
11g.77156669T=CA1984095124MYO7Ac.480T= (p.Ser160=)
c.447T= (p.Ser149=)
c.222T= (p.Ser74=)
n.800T=
n.802T=
c.570T= (p.Ser190=)
n.585T=
11g.77156670G>ACA381931756MYO7Ac.481G>A (p.Gly161Arg)
c.448G>A (p.Gly150Arg)
c.223G>A (p.Gly75Arg)
n.801G>A
n.803G>A
c.571G>A (p.Gly191Arg)
n.586G>A
 gnomAD v4
11g.77156670G>CCA381931757MYO7Ac.481G>C (p.Gly161Arg)
c.448G>C (p.Gly150Arg)
c.223G>C (p.Gly75Arg)
n.801G>C
n.803G>C
c.571G>C (p.Gly191Arg)
n.586G>C
11g.77156670G>TCA381931758MYO7Ac.481G>T (p.Gly161Trp)
c.448G>T (p.Gly150Trp)
c.223G>T (p.Gly75Trp)
n.801G>T
n.803G>T
c.571G>T (p.Gly191Trp)
n.586G>T
11g.77156671G>ACA381931761MYO7Ac.482G>A (p.Gly161Glu)
c.449G>A (p.Gly150Glu)
c.224G>A (p.Gly75Glu)
n.802G>A
n.804G>A
c.572G>A (p.Gly191Glu)
n.587G>A
 gnomAD v4
11g.77156671G>CCA381931759MYO7Ac.482G>C (p.Gly161Ala)
c.449G>C (p.Gly150Ala)
c.224G>C (p.Gly75Ala)
n.802G>C
n.804G>C
c.572G>C (p.Gly191Ala)
n.587G>C
11g.77156671G>TCA381931760MYO7Ac.482G>T (p.Gly161Val)
c.449G>T (p.Gly150Val)
c.224G>T (p.Gly75Val)
n.802G>T
n.804G>T
c.572G>T (p.Gly191Val)
n.587G>T
11g.77156672G>ACA475886854MYO7Ac.483G>A (p.Gly161=)
c.450G>A (p.Gly150=)
c.225G>A (p.Gly75=)
n.803G>A
n.805G>A
c.573G>A (p.Gly191=)
n.588G>A
11g.77156672G>CCA6197156MYO7Ac.483G>C (p.Gly161=)
c.450G>C (p.Gly150=)
c.225G>C (p.Gly75=)
n.803G>C
n.805G>C
c.573G>C (p.Gly191=)
n.588G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156672G=CA1984095128MYO7Ac.483G= (p.Gly161=)
c.450G= (p.Gly150=)
c.225G= (p.Gly75=)
n.803G=
n.805G=
c.573G= (p.Gly191=)
n.588G=
11g.77156672G>TCA475886856MYO7Ac.483G>T (p.Gly161=)
c.450G>T (p.Gly150=)
c.225G>T (p.Gly75=)
n.803G>T
n.805G>T
c.573G>T (p.Gly191=)
n.588G>T
 gnomAD v4
11g.77156673G>ACA132357MYO7Ac.484G>A (p.Ala162Thr)
c.451G>A (p.Ala151Thr)
c.226G>A (p.Ala76Thr)
n.804G>A
n.806G>A
c.574G>A (p.Ala192Thr)
n.589G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77156673G>CCA381931762MYO7Ac.484G>C (p.Ala162Pro)
c.451G>C (p.Ala151Pro)
c.226G>C (p.Ala76Pro)
n.804G>C
n.806G>C
c.574G>C (p.Ala192Pro)
n.589G>C
11g.77156673G=CA1984095143MYO7Ac.484G= (p.Ala162=)
c.451G= (p.Ala151=)
c.226G= (p.Ala76=)
n.804G=
n.806G=
c.574G= (p.Ala192=)
n.589G=
11g.77156673G>TCA381931763MYO7Ac.484G>T (p.Ala162Ser)
c.451G>T (p.Ala151Ser)
c.226G>T (p.Ala76Ser)
n.804G>T
n.806G>T
c.574G>T (p.Ala192Ser)
n.589G>T
11g.77156674C>ACA381931764MYO7Ac.485C>A (p.Ala162Asp)
c.452C>A (p.Ala151Asp)
c.227C>A (p.Ala76Asp)
n.805C>A
n.807C>A
c.575C>A (p.Ala192Asp)
n.590C>A
 dbSNP
11g.77156674C=CA1984095150MYO7Ac.485C= (p.Ala162=)
c.452C= (p.Ala151=)
c.227C= (p.Ala76=)
n.805C=
n.807C=
c.575C= (p.Ala192=)
n.590C=
11g.77156674C>GCA381931765MYO7Ac.485C>G (p.Ala162Gly)
c.452C>G (p.Ala151Gly)
c.227C>G (p.Ala76Gly)
n.805C>G
n.807C>G
c.575C>G (p.Ala192Gly)
n.590C>G
11g.77156674C>TCA381931766MYO7Ac.485C>T (p.Ala162Val)
c.452C>T (p.Ala151Val)
c.227C>T (p.Ala76Val)
n.805C>T
n.807C>T
c.575C>T (p.Ala192Val)
n.590C>T
11g.77156675C>ACA475886861MYO7Ac.486C>A (p.Ala162=)
c.453C>A (p.Ala151=)
c.228C>A (p.Ala76=)
n.806C>A
n.808C>A
c.576C>A (p.Ala192=)
n.591C>A
 ClinVar dbSNP gnomAD v4
11g.77156675C=CA1984095156MYO7Ac.486C= (p.Ala162=)
c.453C= (p.Ala151=)
c.228C= (p.Ala76=)
n.806C=
n.808C=
c.576C= (p.Ala192=)
n.591C=
11g.77156675C>GCA475886863MYO7Ac.486C>G (p.Ala162=)
c.453C>G (p.Ala151=)
c.228C>G (p.Ala76=)
n.806C>G
n.808C>G
c.576C>G (p.Ala192=)
n.591C>G
11g.77156675C>TCA6197157MYO7Ac.486C>T (p.Ala162=)
c.453C>T (p.Ala151=)
c.228C>T (p.Ala76=)
n.806C>T
n.808C>T
c.576C>T (p.Ala192=)
n.591C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156675_77156842delinsAGCA2573147717MYO7Ac.486_593-20delinsAG
c.453_560-20delinsAG
c.228_335-20delinsAG
n.806_913-20delinsAG
n.808_915-20delinsAG
c.576_683-20delinsAG
n.591_698-20delinsAG
 ClinVar dbSNP
11g.77156676G>ACA381931767MYO7Ac.487G>A (p.Gly163Arg)
c.454G>A (p.Gly152Arg)
c.229G>A (p.Gly77Arg)
n.807G>A
n.809G>A
c.577G>A (p.Gly193Arg)
n.592G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156676G>CCA381931768MYO7Ac.487G>C (p.Gly163Arg)
c.454G>C (p.Gly152Arg)
c.229G>C (p.Gly77Arg)
n.807G>C
n.809G>C
c.577G>C (p.Gly193Arg)
n.592G>C
11g.77156676G=CA1984095165MYO7Ac.487G= (p.Gly163=)
c.454G= (p.Gly152=)
c.229G= (p.Gly77=)
n.807G=
n.809G=
c.577G= (p.Gly193=)
n.592G=
11g.77156676G>TCA381931769MYO7Ac.487G>T (p.Gly163Trp)
c.454G>T (p.Gly152Trp)
c.229G>T (p.Gly77Trp)
n.807G>T
n.809G>T
c.577G>T (p.Gly193Trp)
n.592G>T
11g.77156677G>ACA381931772MYO7Ac.488G>A (p.Gly163Glu)
c.455G>A (p.Gly152Glu)
c.230G>A (p.Gly77Glu)
n.808G>A
n.810G>A
c.578G>A (p.Gly193Glu)
n.593G>A
 COSMIC
11g.77156677G>CCA381931771MYO7Ac.488G>C (p.Gly163Ala)
c.455G>C (p.Gly152Ala)
c.230G>C (p.Gly77Ala)
n.808G>C
n.810G>C
c.578G>C (p.Gly193Ala)
n.593G>C
11g.77156677G>TCA381931770MYO7Ac.488G>T (p.Gly163Val)
c.455G>T (p.Gly152Val)
c.230G>T (p.Gly77Val)
n.808G>T
n.810G>T
c.578G>T (p.Gly193Val)
n.593G>T
11g.77156678G>ACA475886870MYO7Ac.489G>A (p.Gly163=)
c.456G>A (p.Gly152=)
c.231G>A (p.Gly77=)
n.809G>A
n.811G>A
c.579G>A (p.Gly193=)
n.594G>A
11g.77156678G>CCA475886869MYO7Ac.489G>C (p.Gly163=)
c.456G>C (p.Gly152=)
c.231G>C (p.Gly77=)
n.809G>C
n.811G>C
c.579G>C (p.Gly193=)
n.594G>C
 ClinVar
11g.77156678G>TCA475886867MYO7Ac.489G>T (p.Gly163=)
c.456G>T (p.Gly152=)
c.231G>T (p.Gly77=)
n.809G>T
n.811G>T
c.579G>T (p.Gly193=)
n.594G>T
 gnomAD v4
11g.77156679A>CCA381931773MYO7Ac.490A>C (p.Lys164Gln)
c.457A>C (p.Lys153Gln)
c.232A>C (p.Lys78Gln)
n.810A>C
n.812A>C
c.580A>C (p.Lys194Gln)
n.595A>C
11g.77156679A>GCA381931774MYO7Ac.490A>G (p.Lys164Glu)
c.457A>G (p.Lys153Glu)
c.232A>G (p.Lys78Glu)
n.810A>G
n.812A>G
c.580A>G (p.Lys194Glu)
n.595A>G
11g.77156679A>TCA381931775MYO7Ac.490A>T (p.Lys164Ter)
c.457A>T (p.Lys153Ter)
c.232A>T (p.Lys78Ter)
n.810A>T
n.812A>T
c.580A>T (p.Lys194Ter)
n.595A>T
11g.77156680A>CCA381931776MYO7Ac.491A>C (p.Lys164Thr)
c.458A>C (p.Lys153Thr)
c.233A>C (p.Lys78Thr)
n.811A>C
n.813A>C
c.581A>C (p.Lys194Thr)
n.596A>C
11g.77156680A>GCA381931777MYO7Ac.491A>G (p.Lys164Arg)
c.458A>G (p.Lys153Arg)
c.233A>G (p.Lys78Arg)
n.811A>G
n.813A>G
c.581A>G (p.Lys194Arg)
n.596A>G
11g.77156680A>TCA381931778MYO7Ac.491A>T (p.Lys164Met)
c.458A>T (p.Lys153Met)
c.233A>T (p.Lys78Met)
n.811A>T
n.813A>T
c.581A>T (p.Lys194Met)
n.596A>T
11g.77156681G>ACA475886880MYO7Ac.492G>A (p.Lys164=)
c.459G>A (p.Lys153=)
c.234G>A (p.Lys78=)
n.812G>A
n.814G>A
c.582G>A (p.Lys194=)
n.597G>A
11g.77156681G>CCA381931780MYO7Ac.492G>C (p.Lys164Asn)
c.459G>C (p.Lys153Asn)
c.234G>C (p.Lys78Asn)
n.812G>C
n.814G>C
c.582G>C (p.Lys194Asn)
n.597G>C
 ClinVar dbSNP
11g.77156681G=CA1984095176MYO7Ac.492G= (p.Lys164=)
c.459G= (p.Lys153=)
c.234G= (p.Lys78=)
n.812G=
n.814G=
c.582G= (p.Lys194=)
n.597G=
11g.77156681G>TCA381931779MYO7Ac.492G>T (p.Lys164Asn)
c.459G>T (p.Lys153Asn)
c.234G>T (p.Lys78Asn)
n.812G>T
n.814G>T
c.582G>T (p.Lys194Asn)
n.597G>T
11g.77156682A>CCA381931781MYO7Ac.493A>C (p.Thr165Pro)
c.460A>C (p.Thr154Pro)
c.235A>C (p.Thr79Pro)
n.813A>C
n.815A>C
c.583A>C (p.Thr195Pro)
n.598A>C
11g.77156682A>GCA381931782MYO7Ac.493A>G (p.Thr165Ala)
c.460A>G (p.Thr154Ala)
c.235A>G (p.Thr79Ala)
n.813A>G
n.815A>G
c.583A>G (p.Thr195Ala)
n.598A>G
11g.77156682A>TCA381931783MYO7Ac.493A>T (p.Thr165Ser)
c.460A>T (p.Thr154Ser)
c.235A>T (p.Thr79Ser)
n.813A>T
n.815A>T
c.583A>T (p.Thr195Ser)
n.598A>T
11g.77156683C>ACA381931784MYO7Ac.494C>A (p.Thr165Lys)
c.461C>A (p.Thr154Lys)
c.236C>A (p.Thr79Lys)
n.814C>A
n.816C>A
c.584C>A (p.Thr195Lys)
n.599C>A
 gnomAD v4
11g.77156683C=CA1984095185MYO7Ac.494C= (p.Thr165=)
c.461C= (p.Thr154=)
c.236C= (p.Thr79=)
n.814C=
n.816C=
c.584C= (p.Thr195=)
n.599C=
11g.77156683C>GCA381931785MYO7Ac.494C>G (p.Thr165Arg)
c.461C>G (p.Thr154Arg)
c.236C>G (p.Thr79Arg)
n.814C>G
n.816C>G
c.584C>G (p.Thr195Arg)
n.599C>G
11g.77156683C>TCA278676MYO7Ac.494C>T (p.Thr165Met)
c.461C>T (p.Thr154Met)
c.236C>T (p.Thr79Met)
n.814C>T
n.816C>T
c.584C>T (p.Thr195Met)
n.599C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77156683_77156684delinsCGCA1984095184MYO7Ac.494_495delinsCG (p.Thr165=)
c.461_462delinsCG (p.Thr154=)
c.236_237delinsCG (p.Thr79=)
n.814_815delinsCG
n.816_817delinsCG
c.584_585delinsCG (p.Thr195=)
n.599_600delinsCG
11g.77156684G>ACA6197158MYO7Ac.495G>A (p.Thr165=)
c.462G>A (p.Thr154=)
c.237G>A (p.Thr79=)
n.815G>A
n.817G>A
c.585G>A (p.Thr195=)
n.600G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156684G>CCA475886893MYO7Ac.495G>C (p.Thr165=)
c.462G>C (p.Thr154=)
c.237G>C (p.Thr79=)
n.815G>C
n.817G>C
c.585G>C (p.Thr195=)
n.600G>C
11g.77156684G=CA1984095201MYO7Ac.495G= (p.Thr165=)
c.462G= (p.Thr154=)
c.237G= (p.Thr79=)
n.815G=
n.817G=
c.585G= (p.Thr195=)
n.600G=
11g.77156684G>TCA475886891MYO7Ac.495G>T (p.Thr165=)
c.462G>T (p.Thr154=)
c.237G>T (p.Thr79=)
n.815G>T
n.817G>T
c.585G>T (p.Thr195=)
n.600G>T
11g.77156685delCA278677MYO7Ac.496del (p.Glu166ArgfsTer5)
c.463del (p.Glu155ArgfsTer5)
c.238del (p.Glu80ArgfsTer5)
n.816del
n.818del
c.586del (p.Glu196ArgfsTer5)
n.601del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156685G>ACA381931786MYO7Ac.496G>A (p.Glu166Lys)
c.463G>A (p.Glu155Lys)
c.238G>A (p.Glu80Lys)
n.816G>A
n.818G>A
c.586G>A (p.Glu196Lys)
n.601G>A
11g.77156685G>CCA381931787MYO7Ac.496G>C (p.Glu166Gln)
c.463G>C (p.Glu155Gln)
c.238G>C (p.Glu80Gln)
n.816G>C
n.818G>C
c.586G>C (p.Glu196Gln)
n.601G>C
11g.77156685G=CA1984095216MYO7Ac.496G= (p.Glu166=)
c.463G= (p.Glu155=)
c.238G= (p.Glu80=)
n.816G=
n.818G=
c.586G= (p.Glu196=)
n.601G=
11g.77156685G>TCA381931788MYO7Ac.496G>T (p.Glu166Ter)
c.463G>T (p.Glu155Ter)
c.238G>T (p.Glu80Ter)
n.816G>T
n.818G>T
c.586G>T (p.Glu196Ter)
n.601G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156686A>CCA381931789MYO7Ac.497A>C (p.Glu166Ala)
c.464A>C (p.Glu155Ala)
c.239A>C (p.Glu80Ala)
n.817A>C
n.819A>C
c.587A>C (p.Glu196Ala)
n.602A>C
11g.77156686A>GCA381931790MYO7Ac.497A>G (p.Glu166Gly)
c.464A>G (p.Glu155Gly)
c.239A>G (p.Glu80Gly)
n.817A>G
n.819A>G
c.587A>G (p.Glu196Gly)
n.602A>G
11g.77156686A>TCA381931791MYO7Ac.497A>T (p.Glu166Val)
c.464A>T (p.Glu155Val)
c.239A>T (p.Glu80Val)
n.817A>T
n.819A>T
c.587A>T (p.Glu196Val)
n.602A>T
11g.77156687G>ACA475886901MYO7Ac.498G>A (p.Glu166=)
c.465G>A (p.Glu155=)
c.240G>A (p.Glu80=)
n.818G>A
n.820G>A
c.588G>A (p.Glu196=)
n.603G>A
 ClinVar dbSNP
11g.77156687G>CCA381931792MYO7Ac.498G>C (p.Glu166Asp)
c.465G>C (p.Glu155Asp)
c.240G>C (p.Glu80Asp)
n.818G>C
n.820G>C
c.588G>C (p.Glu196Asp)
n.603G>C
11g.77156687G>TCA381931793MYO7Ac.498G>T (p.Glu166Asp)
c.465G>T (p.Glu155Asp)
c.240G>T (p.Glu80Asp)
n.818G>T
n.820G>T
c.588G>T (p.Glu196Asp)
n.603G>T
11g.77156688A>CCA381931794MYO7Ac.499A>C (p.Ser167Arg)
c.466A>C (p.Ser156Arg)
c.241A>C (p.Ser81Arg)
n.819A>C
n.821A>C
c.589A>C (p.Ser197Arg)
n.604A>C
11g.77156688A>GCA381931795MYO7Ac.499A>G (p.Ser167Gly)
c.466A>G (p.Ser156Gly)
c.241A>G (p.Ser81Gly)
n.819A>G
n.821A>G
c.589A>G (p.Ser197Gly)
n.604A>G
11g.77156688A>TCA381931796MYO7Ac.499A>T (p.Ser167Cys)
c.466A>T (p.Ser156Cys)
c.241A>T (p.Ser81Cys)
n.819A>T
n.821A>T
c.589A>T (p.Ser197Cys)
n.604A>T
11g.77156689G>ACA381931798MYO7Ac.500G>A (p.Ser167Asn)
c.467G>A (p.Ser156Asn)
c.242G>A (p.Ser81Asn)
n.820G>A
n.822G>A
c.590G>A (p.Ser197Asn)
n.605G>A
 gnomAD v4
11g.77156689G>CCA10605557MYO7Ac.500G>C (p.Ser167Thr)
c.467G>C (p.Ser156Thr)
c.242G>C (p.Ser81Thr)
n.820G>C
n.822G>C
c.590G>C (p.Ser197Thr)
n.605G>C
 ClinVar dbSNP
11g.77156689G=CA1984095223MYO7Ac.500G= (p.Ser167=)
c.467G= (p.Ser156=)
c.242G= (p.Ser81=)
n.820G=
n.822G=
c.590G= (p.Ser197=)
n.605G=
11g.77156689G>TCA381931797MYO7Ac.500G>T (p.Ser167Ile)
c.467G>T (p.Ser156Ile)
c.242G>T (p.Ser81Ile)
n.820G>T
n.822G>T
c.590G>T (p.Ser197Ile)
n.605G>T
11g.77156690C>ACA381931799MYO7Ac.501C>A (p.Ser167Arg)
c.468C>A (p.Ser156Arg)
c.243C>A (p.Ser81Arg)
n.821C>A
n.823C>A
c.591C>A (p.Ser197Arg)
n.606C>A
 COSMIC
11g.77156690C>GCA381931800MYO7Ac.501C>G (p.Ser167Arg)
c.468C>G (p.Ser156Arg)
c.243C>G (p.Ser81Arg)
n.821C>G
n.823C>G
c.591C>G (p.Ser197Arg)
n.606C>G
11g.77156690C>TCA475886906MYO7Ac.501C>T (p.Ser167=)
c.468C>T (p.Ser156=)
c.243C>T (p.Ser81=)
n.821C>T
n.823C>T
c.591C>T (p.Ser197=)
n.606C>T
11g.77156691A=CA1984095232MYO7Ac.502A= (p.Thr168=)
c.469A= (p.Thr157=)
c.244A= (p.Thr82=)
n.822A=
n.824A=
c.592A= (p.Thr198=)
n.607A=
11g.77156691A>CCA381931801MYO7Ac.502A>C (p.Thr168Pro)
c.469A>C (p.Thr157Pro)
c.244A>C (p.Thr82Pro)
n.822A>C
n.824A>C
c.592A>C (p.Thr198Pro)
n.607A>C
11g.77156691A>GCA381931802MYO7Ac.502A>G (p.Thr168Ala)
c.469A>G (p.Thr157Ala)
c.244A>G (p.Thr82Ala)
n.822A>G
n.824A>G
c.592A>G (p.Thr198Ala)
n.607A>G
 COSMIC
11g.77156691A>TCA381931803MYO7Ac.502A>T (p.Thr168Ser)
c.469A>T (p.Thr157Ser)
c.244A>T (p.Thr82Ser)
n.822A>T
n.824A>T
c.592A>T (p.Thr198Ser)
n.607A>T
 dbSNP gnomAD v2 gnomAD v4
11g.77156692C>ACA381931804MYO7Ac.503C>A (p.Thr168Lys)
c.470C>A (p.Thr157Lys)
c.245C>A (p.Thr82Lys)
n.823C>A
n.825C>A
c.593C>A (p.Thr198Lys)
n.608C>A
11g.77156692C>GCA381931805MYO7Ac.503C>G (p.Thr168Arg)
c.470C>G (p.Thr157Arg)
c.245C>G (p.Thr82Arg)
n.823C>G
n.825C>G
c.593C>G (p.Thr198Arg)
n.608C>G
11g.77156692C>TCA381931806MYO7Ac.503C>T (p.Thr168Ile)
c.470C>T (p.Thr157Ile)
c.245C>T (p.Thr82Ile)
n.823C>T
n.825C>T
c.593C>T (p.Thr198Ile)
n.608C>T
11g.77156693A=CA1984095234MYO7Ac.504A= (p.Thr168=)
c.471A= (p.Thr157=)
c.246A= (p.Thr82=)
n.824A=
n.826A=
c.594A= (p.Thr198=)
n.609A=
11g.77156693A>CCA475886911MYO7Ac.504A>C (p.Thr168=)
c.471A>C (p.Thr157=)
c.246A>C (p.Thr82=)
n.824A>C
n.826A>C
c.594A>C (p.Thr198=)
n.609A>C
11g.77156693A>GCA475886916MYO7Ac.504A>G (p.Thr168=)
c.471A>G (p.Thr157=)
c.246A>G (p.Thr82=)
n.824A>G
n.826A>G
c.594A>G (p.Thr198=)
n.609A>G
 dbSNP gnomAD v2 gnomAD v4
11g.77156693A>TCA475886912MYO7Ac.504A>T (p.Thr168=)
c.471A>T (p.Thr157=)
c.246A>T (p.Thr82=)
n.824A>T
n.826A>T
c.594A>T (p.Thr198=)
n.609A>T
11g.77156694A=CA1984095238MYO7Ac.505A= (p.Lys169=)
c.472A= (p.Lys158=)
c.247A= (p.Lys83=)
n.825A=
n.827A=
c.595A= (p.Lys199=)
n.610A=
11g.77156694A>CCA381931807MYO7Ac.505A>C (p.Lys169Gln)
c.472A>C (p.Lys158Gln)
c.247A>C (p.Lys83Gln)
n.825A>C
n.827A>C
c.595A>C (p.Lys199Gln)
n.610A>C
11g.77156694A>GCA381931808MYO7Ac.505A>G (p.Lys169Glu)
c.472A>G (p.Lys158Glu)
c.247A>G (p.Lys83Glu)
n.825A>G
n.827A>G
c.595A>G (p.Lys199Glu)
n.610A>G
11g.77156694A>TCA381931809MYO7Ac.505A>T (p.Lys169Ter)
c.472A>T (p.Lys158Ter)
c.247A>T (p.Lys83Ter)
n.825A>T
n.827A>T
c.595A>T (p.Lys199Ter)
n.610A>T
 dbSNP gnomAD v2 gnomAD v4
11g.77156695A=CA1984095242MYO7Ac.506A= (p.Lys169=)
c.473A= (p.Lys158=)
c.248A= (p.Lys83=)
n.826A=
n.828A=
c.596A= (p.Lys199=)
n.611A=
11g.77156695A>CCA381931810MYO7Ac.506A>C (p.Lys169Thr)
c.473A>C (p.Lys158Thr)
c.248A>C (p.Lys83Thr)
n.826A>C
n.828A>C
c.596A>C (p.Lys199Thr)
n.611A>C
11g.77156695A>GCA6197159MYO7Ac.506A>G (p.Lys169Arg)
c.473A>G (p.Lys158Arg)
c.248A>G (p.Lys83Arg)
n.826A>G
n.828A>G
c.596A>G (p.Lys199Arg)
n.611A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156695A>TCA381931811MYO7Ac.506A>T (p.Lys169Met)
c.473A>T (p.Lys158Met)
c.248A>T (p.Lys83Met)
n.826A>T
n.828A>T
c.596A>T (p.Lys199Met)
n.611A>T
11g.77156696G>ACA475886920MYO7Ac.507G>A (p.Lys169=)
c.474G>A (p.Lys158=)
c.249G>A (p.Lys83=)
n.827G>A
n.829G>A
c.597G>A (p.Lys199=)
n.612G>A
 dbSNP gnomAD v4
11g.77156696G>CCA381931813MYO7Ac.507G>C (p.Lys169Asn)
c.474G>C (p.Lys158Asn)
c.249G>C (p.Lys83Asn)
n.827G>C
n.829G>C
c.597G>C (p.Lys199Asn)
n.612G>C
11g.77156696G>TCA381931812MYO7Ac.507G>T (p.Lys169Asn)
c.474G>T (p.Lys158Asn)
c.249G>T (p.Lys83Asn)
n.827G>T
n.829G>T
c.597G>T (p.Lys199Asn)
n.612G>T
11g.77156697C>ACA381931814MYO7Ac.508C>A (p.Leu170Met)
c.475C>A (p.Leu159Met)
c.250C>A (p.Leu84Met)
n.828C>A
n.830C>A
c.598C>A (p.Leu200Met)
n.613C>A
11g.77156697C>GCA381931815MYO7Ac.508C>G (p.Leu170Val)
c.475C>G (p.Leu159Val)
c.250C>G (p.Leu84Val)
n.828C>G
n.830C>G
c.598C>G (p.Leu200Val)
n.613C>G
11g.77156697C>TCA475886921MYO7Ac.508C>T (p.Leu170=)
c.475C>T (p.Leu159=)
c.250C>T (p.Leu84=)
n.828C>T
n.830C>T
c.598C>T (p.Leu200=)
n.613C>T
 gnomAD v4
11g.77156698T>ACA381931816MYO7Ac.509T>A (p.Leu170Gln)
c.476T>A (p.Leu159Gln)
c.251T>A (p.Leu84Gln)
n.829T>A
n.831T>A
c.599T>A (p.Leu200Gln)
n.614T>A
11g.77156698T>CCA381931817MYO7Ac.509T>C (p.Leu170Pro)
c.476T>C (p.Leu159Pro)
c.251T>C (p.Leu84Pro)
n.829T>C
n.831T>C
c.599T>C (p.Leu200Pro)
n.614T>C
11g.77156698T>GCA381931818MYO7Ac.509T>G (p.Leu170Arg)
c.476T>G (p.Leu159Arg)
c.251T>G (p.Leu84Arg)
n.829T>G
n.831T>G
c.599T>G (p.Leu200Arg)
n.614T>G
11g.77156699G>ACA132371MYO7Ac.510G>A (p.Leu170=)
c.477G>A (p.Leu159=)
c.252G>A (p.Leu84=)
n.830G>A
n.832G>A
c.600G>A (p.Leu200=)
n.615G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156699G>CCA475886928MYO7Ac.510G>C (p.Leu170=)
c.477G>C (p.Leu159=)
c.252G>C (p.Leu84=)
n.830G>C
n.832G>C
c.600G>C (p.Leu200=)
n.615G>C
11g.77156699G=CA1984095252MYO7Ac.510G= (p.Leu170=)
c.477G= (p.Leu159=)
c.252G= (p.Leu84=)
n.830G=
n.832G=
c.600G= (p.Leu200=)
n.615G=
11g.77156699G>TCA475886929MYO7Ac.510G>T (p.Leu170=)
c.477G>T (p.Leu159=)
c.252G>T (p.Leu84=)
n.830G>T
n.832G>T
c.600G>T (p.Leu200=)
n.615G>T
11g.77156700A>CCA381931821MYO7Ac.511A>C (p.Ile171Leu)
c.478A>C (p.Ile160Leu)
c.253A>C (p.Ile85Leu)
n.831A>C
n.833A>C
c.601A>C (p.Ile201Leu)
n.616A>C
 gnomAD v4
11g.77156700A>GCA381931819MYO7Ac.511A>G (p.Ile171Val)
c.478A>G (p.Ile160Val)
c.253A>G (p.Ile85Val)
n.831A>G
n.833A>G
c.601A>G (p.Ile201Val)
n.616A>G
11g.77156700A>TCA381931820MYO7Ac.511A>T (p.Ile171Phe)
c.478A>T (p.Ile160Phe)
c.253A>T (p.Ile85Phe)
n.831A>T
n.833A>T
c.601A>T (p.Ile201Phe)
n.616A>T
11g.77156701T>ACA381931822MYO7Ac.512T>A (p.Ile171Asn)
c.479T>A (p.Ile160Asn)
c.254T>A (p.Ile85Asn)
n.832T>A
n.834T>A
c.602T>A (p.Ile201Asn)
n.617T>A
 dbSNP gnomAD v3 gnomAD v4
11g.77156701T>CCA381931823MYO7Ac.512T>C (p.Ile171Thr)
c.479T>C (p.Ile160Thr)
c.254T>C (p.Ile85Thr)
n.832T>C
n.834T>C
c.602T>C (p.Ile201Thr)
n.617T>C
11g.77156701T>GCA381931824MYO7Ac.512T>G (p.Ile171Ser)
c.479T>G (p.Ile160Ser)
c.254T>G (p.Ile85Ser)
n.832T>G
n.834T>G
c.602T>G (p.Ile201Ser)
n.617T>G
11g.77156701T=CA1984095260MYO7Ac.512T= (p.Ile171=)
c.479T= (p.Ile160=)
c.254T= (p.Ile85=)
n.832T=
n.834T=
c.602T= (p.Ile201=)
n.617T=
11g.77156702C>ACA6197160MYO7Ac.513C>A (p.Ile171=)
c.480C>A (p.Ile160=)
c.255C>A (p.Ile85=)
n.833C>A
n.835C>A
c.603C>A (p.Ile201=)
n.618C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156702C=CA1984095267MYO7Ac.513C= (p.Ile171=)
c.480C= (p.Ile160=)
c.255C= (p.Ile85=)
n.833C=
n.835C=
c.603C= (p.Ile201=)
n.618C=
11g.77156702C>GCA381931825MYO7Ac.513C>G (p.Ile171Met)
c.480C>G (p.Ile160Met)
c.255C>G (p.Ile85Met)
n.833C>G
n.835C>G
c.603C>G (p.Ile201Met)
n.618C>G
11g.77156702C>TCA475886938MYO7Ac.513C>T (p.Ile171=)
c.480C>T (p.Ile160=)
c.255C>T (p.Ile85=)
n.833C>T
n.835C>T
c.603C>T (p.Ile201=)
n.618C>T
11g.77156703C>ACA381931827MYO7Ac.514C>A (p.Leu172Met)
c.481C>A (p.Leu161Met)
c.256C>A (p.Leu86Met)
n.834C>A
n.836C>A
c.604C>A (p.Leu202Met)
n.619C>A
11g.77156703C=CA1984095273MYO7Ac.514C= (p.Leu172=)
c.481C= (p.Leu161=)
c.256C= (p.Leu86=)
n.834C=
n.836C=
c.604C= (p.Leu202=)
n.619C=
11g.77156703C>GCA381931826MYO7Ac.514C>G (p.Leu172Val)
c.481C>G (p.Leu161Val)
c.256C>G (p.Leu86Val)
n.834C>G
n.836C>G
c.604C>G (p.Leu202Val)
n.619C>G
11g.77156703C>TCA185247MYO7Ac.514C>T (p.Leu172=)
c.481C>T (p.Leu161=)
c.256C>T (p.Leu86=)
n.834C>T
n.836C>T
c.604C>T (p.Leu202=)
n.619C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156704T>ACA381931828MYO7Ac.515T>A (p.Leu172Gln)
c.482T>A (p.Leu161Gln)
c.257T>A (p.Leu86Gln)
n.835T>A
n.837T>A
c.605T>A (p.Leu202Gln)
n.620T>A
11g.77156704T>CCA381931829MYO7Ac.515T>C (p.Leu172Pro)
c.482T>C (p.Leu161Pro)
c.257T>C (p.Leu86Pro)
n.835T>C
n.837T>C
c.605T>C (p.Leu202Pro)
n.620T>C
11g.77156704T>GCA381931830MYO7Ac.515T>G (p.Leu172Arg)
c.482T>G (p.Leu161Arg)
c.257T>G (p.Leu86Arg)
n.835T>G
n.837T>G
c.605T>G (p.Leu202Arg)
n.620T>G
11g.77156705G>ACA475886948MYO7Ac.516G>A (p.Leu172=)
c.483G>A (p.Leu161=)
c.258G>A (p.Leu86=)
n.836G>A
n.838G>A
c.606G>A (p.Leu202=)
n.621G>A
 ClinVar gnomAD v4
11g.77156705G>CCA475886949MYO7Ac.516G>C (p.Leu172=)
c.483G>C (p.Leu161=)
c.258G>C (p.Leu86=)
n.836G>C
n.838G>C
c.606G>C (p.Leu202=)
n.621G>C
11g.77156705G>TCA475886950MYO7Ac.516G>T (p.Leu172=)
c.483G>T (p.Leu161=)
c.258G>T (p.Leu86=)
n.836G>T
n.838G>T
c.606G>T (p.Leu202=)
n.621G>T
11g.77156706C>ACA381931831MYO7Ac.517C>A (p.Gln173Lys)
c.484C>A (p.Gln162Lys)
c.259C>A (p.Gln87Lys)
n.837C>A
n.839C>A
c.607C>A (p.Gln203Lys)
n.622C>A
11g.77156706C=CA1984095278MYO7Ac.517C= (p.Gln173=)
c.484C= (p.Gln162=)
c.259C= (p.Gln87=)
n.837C=
n.839C=
c.607C= (p.Gln203=)
n.622C=
11g.77156706C>GCA381931832MYO7Ac.517C>G (p.Gln173Glu)
c.484C>G (p.Gln162Glu)
c.259C>G (p.Gln87Glu)
n.837C>G
n.839C>G
c.607C>G (p.Gln203Glu)
n.622C>G
11g.77156706C>TCA6197161MYO7Ac.517C>T (p.Gln173Ter)
c.484C>T (p.Gln162Ter)
c.259C>T (p.Gln87Ter)
n.837C>T
n.839C>T
c.607C>T (p.Gln203Ter)
n.622C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156707A=CA1984095290MYO7Ac.518A= (p.Gln173=)
c.485A= (p.Gln162=)
c.260A= (p.Gln87=)
n.838A=
n.840A=
c.608A= (p.Gln203=)
n.623A=
11g.77156707A>CCA381931835MYO7Ac.518A>C (p.Gln173Pro)
c.485A>C (p.Gln162Pro)
c.260A>C (p.Gln87Pro)
n.838A>C
n.840A>C
c.608A>C (p.Gln203Pro)
n.623A>C
11g.77156707A>GCA381931834MYO7Ac.518A>G (p.Gln173Arg)
c.485A>G (p.Gln162Arg)
c.260A>G (p.Gln87Arg)
n.838A>G
n.840A>G
c.608A>G (p.Gln203Arg)
n.623A>G
 dbSNP gnomAD v4
11g.77156707A>TCA381931833MYO7Ac.518A>T (p.Gln173Leu)
c.485A>T (p.Gln162Leu)
c.260A>T (p.Gln87Leu)
n.838A>T
n.840A>T
c.608A>T (p.Gln203Leu)
n.623A>T
 gnomAD v4
11g.77156708G>ACA6197162MYO7Ac.519G>A (p.Gln173=)
c.486G>A (p.Gln162=)
c.261G>A (p.Gln87=)
n.839G>A
n.841G>A
c.609G>A (p.Gln203=)
n.624G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156708G>CCA381931836MYO7Ac.519G>C (p.Gln173His)
c.486G>C (p.Gln162His)
c.261G>C (p.Gln87His)
n.839G>C
n.841G>C
c.609G>C (p.Gln203His)
n.624G>C
11g.77156708G=CA1984095302MYO7Ac.519G= (p.Gln173=)
c.486G= (p.Gln162=)
c.261G= (p.Gln87=)
n.839G=
n.841G=
c.609G= (p.Gln203=)
n.624G=
11g.77156708G>TCA381931837MYO7Ac.519G>T (p.Gln173His)
c.486G>T (p.Gln162His)
c.261G>T (p.Gln87His)
n.839G>T
n.841G>T
c.609G>T (p.Gln203His)
n.624G>T
11g.77156709T>ACA381931838MYO7Ac.520T>A (p.Phe174Ile)
c.487T>A (p.Phe163Ile)
c.262T>A (p.Phe88Ile)
n.840T>A
n.842T>A
c.610T>A (p.Phe204Ile)
n.625T>A
11g.77156709T>CCA381931839MYO7Ac.520T>C (p.Phe174Leu)
c.487T>C (p.Phe163Leu)
c.262T>C (p.Phe88Leu)
n.840T>C
n.842T>C
c.610T>C (p.Phe204Leu)
n.625T>C
11g.77156709T>GCA381931840MYO7Ac.520T>G (p.Phe174Val)
c.487T>G (p.Phe163Val)
c.262T>G (p.Phe88Val)
n.840T>G
n.842T>G
c.610T>G (p.Phe204Val)
n.625T>G
11g.77156710T>ACA381931841MYO7Ac.521T>A (p.Phe174Tyr)
c.488T>A (p.Phe163Tyr)
c.263T>A (p.Phe88Tyr)
n.841T>A
n.843T>A
c.611T>A (p.Phe204Tyr)
n.626T>A
11g.77156710T>CCA381931843MYO7Ac.521T>C (p.Phe174Ser)
c.488T>C (p.Phe163Ser)
c.263T>C (p.Phe88Ser)
n.841T>C
n.843T>C
c.611T>C (p.Phe204Ser)
n.626T>C
 dbSNP gnomAD v3 gnomAD v4
11g.77156710T>GCA381931842MYO7Ac.521T>G (p.Phe174Cys)
c.488T>G (p.Phe163Cys)
c.263T>G (p.Phe88Cys)
n.841T>G
n.843T>G
c.611T>G (p.Phe204Cys)
n.626T>G
11g.77156710T=CA1984095305MYO7Ac.521T= (p.Phe174=)
c.488T= (p.Phe163=)
c.263T= (p.Phe88=)
n.841T=
n.843T=
c.611T= (p.Phe204=)
n.626T=
11g.77156711C>ACA381931844MYO7Ac.522C>A (p.Phe174Leu)
c.489C>A (p.Phe163Leu)
c.264C>A (p.Phe88Leu)
n.842C>A
n.844C>A
c.612C>A (p.Phe204Leu)
n.627C>A
 COSMIC
11g.77156711C>GCA381931845MYO7Ac.522C>G (p.Phe174Leu)
c.489C>G (p.Phe163Leu)
c.264C>G (p.Phe88Leu)
n.842C>G
n.844C>G
c.612C>G (p.Phe204Leu)
n.627C>G
11g.77156711C>TCA475886970MYO7Ac.522C>T (p.Phe174=)
c.489C>T (p.Phe163=)
c.264C>T (p.Phe88=)
n.842C>T
n.844C>T
c.612C>T (p.Phe204=)
n.627C>T
 gnomAD v4
11g.77156712C>ACA381931846MYO7Ac.523C>A (p.Leu175Met)
c.490C>A (p.Leu164Met)
c.265C>A (p.Leu89Met)
n.843C>A
n.845C>A
c.613C>A (p.Leu205Met)
n.628C>A
11g.77156712C>GCA381931847MYO7Ac.523C>G (p.Leu175Val)
c.490C>G (p.Leu164Val)
c.265C>G (p.Leu89Val)
n.843C>G
n.845C>G
c.613C>G (p.Leu205Val)
n.628C>G
11g.77156712C>TCA475886974MYO7Ac.523C>T (p.Leu175=)
c.490C>T (p.Leu164=)
c.265C>T (p.Leu89=)
n.843C>T
n.845C>T
c.613C>T (p.Leu205=)
n.628C>T
 ClinVar dbSNP gnomAD v4
11g.77156713T>ACA381931848MYO7Ac.524T>A (p.Leu175Gln)
c.491T>A (p.Leu164Gln)
c.266T>A (p.Leu89Gln)
n.844T>A
n.846T>A
c.614T>A (p.Leu205Gln)
n.629T>A
11g.77156713T>CCA381931849MYO7Ac.524T>C (p.Leu175Pro)
c.491T>C (p.Leu164Pro)
c.266T>C (p.Leu89Pro)
n.844T>C
n.846T>C
c.614T>C (p.Leu205Pro)
n.629T>C
11g.77156713T>GCA381931850MYO7Ac.524T>G (p.Leu175Arg)
c.491T>G (p.Leu164Arg)
c.266T>G (p.Leu89Arg)
n.844T>G
n.846T>G
c.614T>G (p.Leu205Arg)
n.629T>G
11g.77156714G>ACA6197163MYO7Ac.525G>A (p.Leu175=)
c.492G>A (p.Leu164=)
c.267G>A (p.Leu89=)
n.845G>A
n.847G>A
c.615G>A (p.Leu205=)
n.630G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156714G>CCA475886981MYO7Ac.525G>C (p.Leu175=)
c.492G>C (p.Leu164=)
c.267G>C (p.Leu89=)
n.845G>C
n.847G>C
c.615G>C (p.Leu205=)
n.630G>C
11g.77156714G=CA1984095310MYO7Ac.525G= (p.Leu175=)
c.492G= (p.Leu164=)
c.267G= (p.Leu89=)
n.845G=
n.847G=
c.615G= (p.Leu205=)
n.630G=
11g.77156714G>TCA475886979MYO7Ac.525G>T (p.Leu175=)
c.492G>T (p.Leu164=)
c.267G>T (p.Leu89=)
n.845G>T
n.847G>T
c.615G>T (p.Leu205=)
n.630G>T
11g.77156715G>ACA381931851MYO7Ac.526G>A (p.Ala176Thr)
c.493G>A (p.Ala165Thr)
c.268G>A (p.Ala90Thr)
n.846G>A
n.848G>A
c.616G>A (p.Ala206Thr)
n.631G>A
11g.77156715G>CCA381931852MYO7Ac.526G>C (p.Ala176Pro)
c.493G>C (p.Ala165Pro)
c.268G>C (p.Ala90Pro)
n.846G>C
n.848G>C
c.616G>C (p.Ala206Pro)
n.631G>C
11g.77156715G>TCA381931853MYO7Ac.526G>T (p.Ala176Ser)
c.493G>T (p.Ala165Ser)
c.268G>T (p.Ala90Ser)
n.846G>T
n.848G>T
c.616G>T (p.Ala206Ser)
n.631G>T
11g.77156716C>ACA381931856MYO7Ac.527C>A (p.Ala176Glu)
c.494C>A (p.Ala165Glu)
c.269C>A (p.Ala90Glu)
n.847C>A
n.849C>A
c.617C>A (p.Ala206Glu)
n.632C>A
11g.77156716C>GCA381931854MYO7Ac.527C>G (p.Ala176Gly)
c.494C>G (p.Ala165Gly)
c.269C>G (p.Ala90Gly)
n.847C>G
n.849C>G
c.617C>G (p.Ala206Gly)
n.632C>G
11g.77156716C>TCA381931855MYO7Ac.527C>T (p.Ala176Val)
c.494C>T (p.Ala165Val)
c.269C>T (p.Ala90Val)
n.847C>T
n.849C>T
c.617C>T (p.Ala206Val)
n.632C>T
11g.77156717A>CCA475886989MYO7Ac.528A>C (p.Ala176=)
c.495A>C (p.Ala165=)
c.270A>C (p.Ala90=)
n.848A>C
n.850A>C
c.618A>C (p.Ala206=)
n.633A>C
11g.77156717A>GCA475886990MYO7Ac.528A>G (p.Ala176=)
c.495A>G (p.Ala165=)
c.270A>G (p.Ala90=)
n.848A>G
n.850A>G
c.618A>G (p.Ala206=)
n.633A>G
11g.77156717A>TCA475886991MYO7Ac.528A>T (p.Ala176=)
c.495A>T (p.Ala165=)
c.270A>T (p.Ala90=)
n.848A>T
n.850A>T
c.618A>T (p.Ala206=)
n.633A>T
11g.77156718G>ACA381931857MYO7Ac.529G>A (p.Ala177Thr)
c.496G>A (p.Ala166Thr)
c.271G>A (p.Ala91Thr)
n.849G>A
n.851G>A
c.619G>A (p.Ala207Thr)
n.634G>A
 gnomAD v4
11g.77156718G>CCA381931858MYO7Ac.529G>C (p.Ala177Pro)
c.496G>C (p.Ala166Pro)
c.271G>C (p.Ala91Pro)
n.849G>C
n.851G>C
c.619G>C (p.Ala207Pro)
n.634G>C
11g.77156718G>TCA381931859MYO7Ac.529G>T (p.Ala177Ser)
c.496G>T (p.Ala166Ser)
c.271G>T (p.Ala91Ser)
n.849G>T
n.851G>T
c.619G>T (p.Ala207Ser)
n.634G>T
11g.77156719C>ACA381931860MYO7Ac.530C>A (p.Ala177Asp)
c.497C>A (p.Ala166Asp)
c.272C>A (p.Ala91Asp)
n.850C>A
n.852C>A
c.620C>A (p.Ala207Asp)
n.635C>A
11g.77156719C=CA1984095314MYO7Ac.530C= (p.Ala177=)
c.497C= (p.Ala166=)
c.272C= (p.Ala91=)
n.850C=
n.852C=
c.620C= (p.Ala207=)
n.635C=
11g.77156719C>GCA381931861MYO7Ac.530C>G (p.Ala177Gly)
c.497C>G (p.Ala166Gly)
c.272C>G (p.Ala91Gly)
n.850C>G
n.852C>G
c.620C>G (p.Ala207Gly)
n.635C>G
 dbSNP gnomAD v4
11g.77156719C>TCA381931862MYO7Ac.530C>T (p.Ala177Val)
c.497C>T (p.Ala166Val)
c.272C>T (p.Ala91Val)
n.850C>T
n.852C>T
c.620C>T (p.Ala207Val)
n.635C>T
11g.77156720C>ACA475886997MYO7Ac.531C>A (p.Ala177=)
c.498C>A (p.Ala166=)
c.273C>A (p.Ala91=)
n.851C>A
n.853C>A
c.621C>A (p.Ala207=)
n.636C>A
11g.77156720C=CA1984095319MYO7Ac.531C= (p.Ala177=)
c.498C= (p.Ala166=)
c.273C= (p.Ala91=)
n.851C=
n.853C=
c.621C= (p.Ala207=)
n.636C=
11g.77156720C>GCA475886998MYO7Ac.531C>G (p.Ala177=)
c.498C>G (p.Ala166=)
c.273C>G (p.Ala91=)
n.851C>G
n.853C>G
c.621C>G (p.Ala207=)
n.636C>G
11g.77156720C>TCA475887000MYO7Ac.531C>T (p.Ala177=)
c.498C>T (p.Ala166=)
c.273C>T (p.Ala91=)
n.851C>T
n.853C>T
c.621C>T (p.Ala207=)
n.636C>T
 dbSNP
11g.77156721A>CCA381931863MYO7Ac.532A>C (p.Ile178Leu)
c.499A>C (p.Ile167Leu)
c.274A>C (p.Ile92Leu)
n.852A>C
n.854A>C
c.622A>C (p.Ile208Leu)
n.637A>C
11g.77156721A>GCA381931864MYO7Ac.532A>G (p.Ile178Val)
c.499A>G (p.Ile167Val)
c.274A>G (p.Ile92Val)
n.852A>G
n.854A>G
c.622A>G (p.Ile208Val)
n.637A>G
11g.77156721A>TCA381931865MYO7Ac.532A>T (p.Ile178Phe)
c.499A>T (p.Ile167Phe)
c.274A>T (p.Ile92Phe)
n.852A>T
n.854A>T
c.622A>T (p.Ile208Phe)
n.637A>T
11g.77156722T>ACA381931866MYO7Ac.533T>A (p.Ile178Asn)
c.500T>A (p.Ile167Asn)
c.275T>A (p.Ile92Asn)
n.853T>A
n.855T>A
c.623T>A (p.Ile208Asn)
n.638T>A
11g.77156722T>CCA381931867MYO7Ac.533T>C (p.Ile178Thr)
c.500T>C (p.Ile167Thr)
c.275T>C (p.Ile92Thr)
n.853T>C
n.855T>C
c.623T>C (p.Ile208Thr)
n.638T>C
11g.77156722T>GCA381931868MYO7Ac.533T>G (p.Ile178Ser)
c.500T>G (p.Ile167Ser)
c.275T>G (p.Ile92Ser)
n.853T>G
n.855T>G
c.623T>G (p.Ile208Ser)
n.638T>G
11g.77156723C>ACA475887009MYO7Ac.534C>A (p.Ile178=)
c.501C>A (p.Ile167=)
c.276C>A (p.Ile92=)
n.854C>A
n.856C>A
c.624C>A (p.Ile208=)
n.639C>A
 dbSNP
11g.77156723C=CA1984095328MYO7Ac.534C= (p.Ile178=)
c.501C= (p.Ile167=)
c.276C= (p.Ile92=)
n.854C=
n.856C=
c.624C= (p.Ile208=)
n.639C=
11g.77156723C>GCA381931869MYO7Ac.534C>G (p.Ile178Met)
c.501C>G (p.Ile167Met)
c.276C>G (p.Ile92Met)
n.854C>G
n.856C>G
c.624C>G (p.Ile208Met)
n.639C>G
11g.77156723C>TCA475887011MYO7Ac.534C>T (p.Ile178=)
c.501C>T (p.Ile167=)
c.276C>T (p.Ile92=)
n.854C>T
n.856C>T
c.624C>T (p.Ile208=)
n.639C>T
 ClinVar
11g.77156724A>CCA381931872MYO7Ac.535A>C (p.Ser179Arg)
c.502A>C (p.Ser168Arg)
c.277A>C (p.Ser93Arg)
n.855A>C
n.857A>C
c.625A>C (p.Ser209Arg)
n.640A>C
11g.77156724A>GCA381931871MYO7Ac.535A>G (p.Ser179Gly)
c.502A>G (p.Ser168Gly)
c.277A>G (p.Ser93Gly)
n.855A>G
n.857A>G
c.625A>G (p.Ser209Gly)
n.640A>G
11g.77156724A>TCA381931870MYO7Ac.535A>T (p.Ser179Cys)
c.502A>T (p.Ser168Cys)
c.277A>T (p.Ser93Cys)
n.855A>T
n.857A>T
c.625A>T (p.Ser209Cys)
n.640A>T
11g.77156724_77156725delCA2695215130MYO7Ac.535_536del (p.Ser179TrpfsTer7)
c.502_503del (p.Ser168TrpfsTer7)
c.277_278del (p.Ser93TrpfsTer7)
n.855_856del
n.857_858del
c.625_626del (p.Ser209TrpfsTer7)
n.640_641del
 ClinVar
11g.77156725G>ACA381931873MYO7Ac.536G>A (p.Ser179Asn)
c.503G>A (p.Ser168Asn)
c.278G>A (p.Ser93Asn)
n.856G>A
n.858G>A
c.626G>A (p.Ser209Asn)
n.641G>A
11g.77156725G>CCA381931874MYO7Ac.536G>C (p.Ser179Thr)
c.503G>C (p.Ser168Thr)
c.278G>C (p.Ser93Thr)
n.856G>C
n.858G>C
c.626G>C (p.Ser209Thr)
n.641G>C
 COSMIC
11g.77156725G>TCA381931875MYO7Ac.536G>T (p.Ser179Ile)
c.503G>T (p.Ser168Ile)
c.278G>T (p.Ser93Ile)
n.856G>T
n.858G>T
c.626G>T (p.Ser209Ile)
n.641G>T
11g.77156726T>ACA381931876MYO7Ac.537T>A (p.Ser179Arg)
c.504T>A (p.Ser168Arg)
c.279T>A (p.Ser93Arg)
n.857T>A
n.859T>A
c.627T>A (p.Ser209Arg)
n.642T>A
11g.77156726T>CCA475887022MYO7Ac.537T>C (p.Ser179=)
c.504T>C (p.Ser168=)
c.279T>C (p.Ser93=)
n.857T>C
n.859T>C
c.627T>C (p.Ser209=)
n.642T>C
 dbSNP gnomAD v2
11g.77156726T>GCA381931877MYO7Ac.537T>G (p.Ser179Arg)
c.504T>G (p.Ser168Arg)
c.279T>G (p.Ser93Arg)
n.857T>G
n.859T>G
c.627T>G (p.Ser209Arg)
n.642T>G
11g.77156726T=CA1984095334MYO7Ac.537T= (p.Ser179=)
c.504T= (p.Ser168=)
c.279T= (p.Ser93=)
n.857T=
n.859T=
c.627T= (p.Ser209=)
n.642T=
11g.77156727G>ACA381931878MYO7Ac.538G>A (p.Gly180Arg)
c.505G>A (p.Gly169Arg)
c.280G>A (p.Gly94Arg)
n.858G>A
n.860G>A
c.628G>A (p.Gly210Arg)
n.643G>A
11g.77156727G>CCA381931879MYO7Ac.538G>C (p.Gly180Arg)
c.505G>C (p.Gly169Arg)
c.280G>C (p.Gly94Arg)
n.858G>C
n.860G>C
c.628G>C (p.Gly210Arg)
n.643G>C
11g.77156727G>TCA381931880MYO7Ac.538G>T (p.Gly180Trp)
c.505G>T (p.Gly169Trp)
c.280G>T (p.Gly94Trp)
n.858G>T
n.860G>T
c.628G>T (p.Gly210Trp)
n.643G>T
11g.77156728G>ACA381931881MYO7Ac.539G>A (p.Gly180Glu)
c.506G>A (p.Gly169Glu)
c.281G>A (p.Gly94Glu)
n.859G>A
n.861G>A
c.629G>A (p.Gly210Glu)
n.644G>A
11g.77156728G>CCA6197164MYO7Ac.539G>C (p.Gly180Ala)
c.506G>C (p.Gly169Ala)
c.281G>C (p.Gly94Ala)
n.859G>C
n.861G>C
c.629G>C (p.Gly210Ala)
n.644G>C
 dbSNP ExAC gnomAD v2
11g.77156728G=CA1984095343MYO7Ac.539G= (p.Gly180=)
c.506G= (p.Gly169=)
c.281G= (p.Gly94=)
n.859G=
n.861G=
c.629G= (p.Gly210=)
n.644G=
11g.77156728G>TCA381931882MYO7Ac.539G>T (p.Gly180Val)
c.506G>T (p.Gly169Val)
c.281G>T (p.Gly94Val)
n.859G>T
n.861G>T
c.629G>T (p.Gly210Val)
n.644G>T
11g.77156729G>ACA475887032MYO7Ac.540G>A (p.Gly180=)
c.507G>A (p.Gly169=)
c.282G>A (p.Gly94=)
n.860G>A
n.862G>A
c.630G>A (p.Gly210=)
n.645G>A
11g.77156729G>CCA475887033MYO7Ac.540G>C (p.Gly180=)
c.507G>C (p.Gly169=)
c.282G>C (p.Gly94=)
n.860G>C
n.862G>C
c.630G>C (p.Gly210=)
n.645G>C
11g.77156729G>TCA475887035MYO7Ac.540G>T (p.Gly180=)
c.507G>T (p.Gly169=)
c.282G>T (p.Gly94=)
n.860G>T
n.862G>T
c.630G>T (p.Gly210=)
n.645G>T
11g.77156730C>ACA381931883MYO7Ac.541C>A (p.Gln181Lys)
c.508C>A (p.Gln170Lys)
c.283C>A (p.Gln95Lys)
n.861C>A
n.863C>A
c.631C>A (p.Gln211Lys)
n.646C>A
11g.77156730C=CA1984095345MYO7Ac.541C= (p.Gln181=)
c.508C= (p.Gln170=)
c.283C= (p.Gln95=)
n.861C=
n.863C=
c.631C= (p.Gln211=)
n.646C=
11g.77156730C>GCA381931884MYO7Ac.541C>G (p.Gln181Glu)
c.508C>G (p.Gln170Glu)
c.283C>G (p.Gln95Glu)
n.861C>G
n.863C>G
c.631C>G (p.Gln211Glu)
n.646C>G
11g.77156730C>TCA381931885MYO7Ac.541C>T (p.Gln181Ter)
c.508C>T (p.Gln170Ter)
c.283C>T (p.Gln95Ter)
n.861C>T
n.863C>T
c.631C>T (p.Gln211Ter)
n.646C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.77156731A>CCA381931887MYO7Ac.542A>C (p.Gln181Pro)
c.509A>C (p.Gln170Pro)
c.284A>C (p.Gln95Pro)
n.862A>C
n.864A>C
c.632A>C (p.Gln211Pro)
n.647A>C
11g.77156731A>GCA381931888MYO7Ac.542A>G (p.Gln181Arg)
c.509A>G (p.Gln170Arg)
c.284A>G (p.Gln95Arg)
n.862A>G
n.864A>G
c.632A>G (p.Gln211Arg)
n.647A>G
11g.77156731A>TCA381931886MYO7Ac.542A>T (p.Gln181Leu)
c.509A>T (p.Gln170Leu)
c.284A>T (p.Gln95Leu)
n.862A>T
n.864A>T
c.632A>T (p.Gln211Leu)
n.647A>T
11g.77156732G>ACA475887043MYO7Ac.543G>A (p.Gln181=)
c.510G>A (p.Gln170=)
c.285G>A (p.Gln95=)
n.863G>A
n.865G>A
c.633G>A (p.Gln211=)
n.648G>A
11g.77156732G>CCA381931889MYO7Ac.543G>C (p.Gln181His)
c.510G>C (p.Gln170His)
c.285G>C (p.Gln95His)
n.863G>C
n.865G>C
c.633G>C (p.Gln211His)
n.648G>C
11g.77156732G>TCA381931890MYO7Ac.543G>T (p.Gln181His)
c.510G>T (p.Gln170His)
c.285G>T (p.Gln95His)
n.863G>T
n.865G>T
c.633G>T (p.Gln211His)
n.648G>T
11g.77156733C>ACA381931891MYO7Ac.544C>A (p.His182Asn)
c.511C>A (p.His171Asn)
c.286C>A (p.His96Asn)
n.864C>A
n.866C>A
c.634C>A (p.His212Asn)
n.649C>A
11g.77156733C>GCA381931892MYO7Ac.544C>G (p.His182Asp)
c.511C>G (p.His171Asp)
c.286C>G (p.His96Asp)
n.864C>G
n.866C>G
c.634C>G (p.His212Asp)
n.649C>G
11g.77156733C>TCA381931893MYO7Ac.544C>T (p.His182Tyr)
c.511C>T (p.His171Tyr)
c.286C>T (p.His96Tyr)
n.864C>T
n.866C>T
c.634C>T (p.His212Tyr)
n.649C>T
 gnomAD v4
11g.77156734A=CA1984095354MYO7Ac.545A= (p.His182=)
c.512A= (p.His171=)
c.287A= (p.His96=)
n.865A=
n.867A=
c.635A= (p.His212=)
n.650A=
11g.77156734A>CCA381931894MYO7Ac.545A>C (p.His182Pro)
c.512A>C (p.His171Pro)
c.287A>C (p.His96Pro)
n.865A>C
n.867A>C
c.635A>C (p.His212Pro)
n.650A>C
 dbSNP
11g.77156734A>GCA381931895MYO7Ac.545A>G (p.His182Arg)
c.512A>G (p.His171Arg)
c.287A>G (p.His96Arg)
n.865A>G
n.867A>G
c.635A>G (p.His212Arg)
n.650A>G
 dbSNP gnomAD v4
11g.77156734A>TCA381931896MYO7Ac.545A>T (p.His182Leu)
c.512A>T (p.His171Leu)
c.287A>T (p.His96Leu)
n.865A>T
n.867A>T
c.635A>T (p.His212Leu)
n.650A>T
11g.77156735C>ACA381931897MYO7Ac.546C>A (p.His182Gln)
c.513C>A (p.His171Gln)
c.288C>A (p.His96Gln)
n.866C>A
n.868C>A
c.636C>A (p.His212Gln)
n.651C>A
11g.77156735C>GCA381931898MYO7Ac.546C>G (p.His182Gln)
c.513C>G (p.His171Gln)
c.288C>G (p.His96Gln)
n.866C>G
n.868C>G
c.636C>G (p.His212Gln)
n.651C>G
11g.77156735C>TCA475887046MYO7Ac.546C>T (p.His182=)
c.513C>T (p.His171=)
c.288C>T (p.His96=)
n.866C>T
n.868C>T
c.636C>T (p.His212=)
n.651C>T
11g.77156736T>ACA381931899MYO7Ac.547T>A (p.Ser183Thr)
c.514T>A (p.Ser172Thr)
c.289T>A (p.Ser97Thr)
n.867T>A
n.869T>A
c.637T>A (p.Ser213Thr)
n.652T>A
11g.77156736T>CCA381931900MYO7Ac.547T>C (p.Ser183Pro)
c.514T>C (p.Ser172Pro)
c.289T>C (p.Ser97Pro)
n.867T>C
n.869T>C
c.637T>C (p.Ser213Pro)
n.652T>C
11g.77156736T>GCA381931901MYO7Ac.547T>G (p.Ser183Ala)
c.514T>G (p.Ser172Ala)
c.289T>G (p.Ser97Ala)
n.867T>G
n.869T>G
c.637T>G (p.Ser213Ala)
n.652T>G
11g.77156737C>ACA381931903MYO7Ac.548C>A (p.Ser183Ter)
c.515C>A (p.Ser172Ter)
c.290C>A (p.Ser97Ter)
n.868C>A
n.870C>A
c.638C>A (p.Ser213Ter)
n.653C>A
 ClinVar
11g.77156737C=CA1984095359MYO7Ac.548C= (p.Ser183=)
c.515C= (p.Ser172=)
c.290C= (p.Ser97=)
n.868C=
n.870C=
c.638C= (p.Ser213=)
n.653C=
11g.77156737C>GCA381931902MYO7Ac.548C>G (p.Ser183Trp)
c.515C>G (p.Ser172Trp)
c.290C>G (p.Ser97Trp)
n.868C>G
n.870C>G
c.638C>G (p.Ser213Trp)
n.653C>G
 gnomAD v4
11g.77156737C>TCA6197165MYO7Ac.548C>T (p.Ser183Leu)
c.515C>T (p.Ser172Leu)
c.290C>T (p.Ser97Leu)
n.868C>T
n.870C>T
c.638C>T (p.Ser213Leu)
n.653C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156738G>ACA6197167MYO7Ac.549G>A (p.Ser183=)
c.516G>A (p.Ser172=)
c.291G>A (p.Ser97=)
n.869G>A
n.871G>A
c.639G>A (p.Ser213=)
n.654G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156738G>CCA6197166MYO7Ac.549G>C (p.Ser183=)
c.516G>C (p.Ser172=)
c.291G>C (p.Ser97=)
n.869G>C
n.871G>C
c.639G>C (p.Ser213=)
n.654G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156738G=CA1984095366MYO7Ac.549G= (p.Ser183=)
c.516G= (p.Ser172=)
c.291G= (p.Ser97=)
n.869G=
n.871G=
c.639G= (p.Ser213=)
n.654G=
11g.77156738G>TCA475887051MYO7Ac.549G>T (p.Ser183=)
c.516G>T (p.Ser172=)
c.291G>T (p.Ser97=)
n.869G>T
n.871G>T
c.639G>T (p.Ser213=)
n.654G>T
 gnomAD v4
11g.77156739T>ACA381931904MYO7Ac.550T>A (p.Trp184Arg)
c.517T>A (p.Trp173Arg)
c.292T>A (p.Trp98Arg)
n.870T>A
n.872T>A
c.640T>A (p.Trp214Arg)
n.655T>A
11g.77156739T>CCA381931905MYO7Ac.550T>C (p.Trp184Arg)
c.517T>C (p.Trp173Arg)
c.292T>C (p.Trp98Arg)
n.870T>C
n.872T>C
c.640T>C (p.Trp214Arg)
n.655T>C
 gnomAD v4
11g.77156739T>GCA381931906MYO7Ac.550T>G (p.Trp184Gly)
c.517T>G (p.Trp173Gly)
c.292T>G (p.Trp98Gly)
n.870T>G
n.872T>G
c.640T>G (p.Trp214Gly)
n.655T>G
11g.77156740G>ACA381931907MYO7Ac.551G>A (p.Trp184Ter)
c.518G>A (p.Trp173Ter)
c.293G>A (p.Trp98Ter)
n.871G>A
n.873G>A
c.641G>A (p.Trp214Ter)
n.656G>A
 ClinVar
11g.77156740G>CCA381931908MYO7Ac.551G>C (p.Trp184Ser)
c.518G>C (p.Trp173Ser)
c.293G>C (p.Trp98Ser)
n.871G>C
n.873G>C
c.641G>C (p.Trp214Ser)
n.656G>C
11g.77156740G>TCA381931909MYO7Ac.551G>T (p.Trp184Leu)
c.518G>T (p.Trp173Leu)
c.293G>T (p.Trp98Leu)
n.871G>T
n.873G>T
c.641G>T (p.Trp214Leu)
n.656G>T

Number of alleles fetched