Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77174817G>ACA6197659MYO7Ac.1997G>A (p.Arg666Gln)
c.62G>A (p.Arg21Gln)
c.1964G>A (p.Arg655Gln)
c.1766G>A (p.Arg589Gln)
c.1739G>A (p.Arg580Gln)
n.2317G>A
n.2319G>A
c.2087G>A (p.Arg696Gln)
c.1856G>A (p.Arg619Gln)
n.2102G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77174817G>CCA381939272MYO7Ac.1997G>C (p.Arg666Pro)
c.62G>C (p.Arg21Pro)
c.1964G>C (p.Arg655Pro)
c.1766G>C (p.Arg589Pro)
c.1739G>C (p.Arg580Pro)
n.2317G>C
n.2319G>C
c.2087G>C (p.Arg696Pro)
c.1856G>C (p.Arg619Pro)
n.2102G>C
 ClinVar dbSNP
11g.77174817G=CA1984113718MYO7Ac.1997G= (p.Arg666=)
c.62G= (p.Arg21=)
c.1964G= (p.Arg655=)
c.1766G= (p.Arg589=)
c.1739G= (p.Arg580=)
n.2317G=
n.2319G=
c.2087G= (p.Arg696=)
c.1856G= (p.Arg619=)
n.2102G=
11g.77174817G>TCA381939274MYO7Ac.1997G>T (p.Arg666Leu)
c.62G>T (p.Arg21Leu)
c.1964G>T (p.Arg655Leu)
c.1766G>T (p.Arg589Leu)
c.1739G>T (p.Arg580Leu)
n.2317G>T
n.2319G>T
c.2087G>T (p.Arg696Leu)
c.1856G>T (p.Arg619Leu)
n.2102G>T
11g.77174818A>CCA475794563MYO7Ac.1998A>C (p.Arg666=)
c.63A>C (p.Arg21=)
c.1965A>C (p.Arg655=)
c.1767A>C (p.Arg589=)
c.1740A>C (p.Arg580=)
n.2318A>C
n.2320A>C
c.2088A>C (p.Arg696=)
c.1857A>C (p.Arg619=)
n.2103A>C
11g.77174818A>GCA475794564MYO7Ac.1998A>G (p.Arg666=)
c.63A>G (p.Arg21=)
c.1965A>G (p.Arg655=)
c.1767A>G (p.Arg589=)
c.1740A>G (p.Arg580=)
n.2318A>G
n.2320A>G
c.2088A>G (p.Arg696=)
c.1857A>G (p.Arg619=)
n.2103A>G
11g.77174818A>TCA475794566MYO7Ac.1998A>T (p.Arg666=)
c.63A>T (p.Arg21=)
c.1965A>T (p.Arg655=)
c.1767A>T (p.Arg589=)
c.1740A>T (p.Arg580=)
n.2318A>T
n.2320A>T
c.2088A>T (p.Arg696=)
c.1857A>T (p.Arg619=)
n.2103A>T
11g.77174819A>CCA381939279MYO7Ac.1999A>C (p.Ile667Leu)
c.64A>C (p.Ile22Leu)
c.1966A>C (p.Ile656Leu)
c.1768A>C (p.Ile590Leu)
c.1741A>C (p.Ile581Leu)
n.2319A>C
n.2321A>C
c.2089A>C (p.Ile697Leu)
c.1858A>C (p.Ile620Leu)
n.2104A>C
11g.77174819A>GCA381939276MYO7Ac.1999A>G (p.Ile667Val)
c.64A>G (p.Ile22Val)
c.1966A>G (p.Ile656Val)
c.1768A>G (p.Ile590Val)
c.1741A>G (p.Ile581Val)
n.2319A>G
n.2321A>G
c.2089A>G (p.Ile697Val)
c.1858A>G (p.Ile620Val)
n.2104A>G
11g.77174819A>TCA381939278MYO7Ac.1999A>T (p.Ile667Phe)
c.64A>T (p.Ile22Phe)
c.1966A>T (p.Ile656Phe)
c.1768A>T (p.Ile590Phe)
c.1741A>T (p.Ile581Phe)
n.2319A>T
n.2321A>T
c.2089A>T (p.Ile697Phe)
c.1858A>T (p.Ile620Phe)
n.2104A>T
11g.77174820T>ACA381939281MYO7Ac.2000T>A (p.Ile667Asn)
c.65T>A (p.Ile22Asn)
c.1967T>A (p.Ile656Asn)
c.1769T>A (p.Ile590Asn)
c.1742T>A (p.Ile581Asn)
n.2320T>A
n.2322T>A
c.2090T>A (p.Ile697Asn)
c.1859T>A (p.Ile620Asn)
n.2105T>A
 gnomAD v4
11g.77174820T>CCA381939282MYO7Ac.2000T>C (p.Ile667Thr)
c.65T>C (p.Ile22Thr)
c.1967T>C (p.Ile656Thr)
c.1769T>C (p.Ile590Thr)
c.1742T>C (p.Ile581Thr)
n.2320T>C
n.2322T>C
c.2090T>C (p.Ile697Thr)
c.1859T>C (p.Ile620Thr)
n.2105T>C
11g.77174820T>GCA381939284MYO7Ac.2000T>G (p.Ile667Ser)
c.65T>G (p.Ile22Ser)
c.1967T>G (p.Ile656Ser)
c.1769T>G (p.Ile590Ser)
c.1742T>G (p.Ile581Ser)
n.2320T>G
n.2322T>G
c.2090T>G (p.Ile697Ser)
c.1859T>G (p.Ile620Ser)
n.2105T>G
11g.77174821C>ACA6197660MYO7Ac.2001C>A (p.Ile667=)
c.66C>A (p.Ile22=)
c.1968C>A (p.Ile656=)
c.1770C>A (p.Ile590=)
c.1743C>A (p.Ile581=)
n.2321C>A
n.2323C>A
c.2091C>A (p.Ile697=)
c.1860C>A (p.Ile620=)
n.2106C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174821C=CA1984113730MYO7Ac.2001C= (p.Ile667=)
c.66C= (p.Ile22=)
c.1968C= (p.Ile656=)
c.1770C= (p.Ile590=)
c.1743C= (p.Ile581=)
n.2321C=
n.2323C=
c.2091C= (p.Ile697=)
c.1860C= (p.Ile620=)
n.2106C=
11g.77174821C>GCA381939286MYO7Ac.2001C>G (p.Ile667Met)
c.66C>G (p.Ile22Met)
c.1968C>G (p.Ile656Met)
c.1770C>G (p.Ile590Met)
c.1743C>G (p.Ile581Met)
n.2321C>G
n.2323C>G
c.2091C>G (p.Ile697Met)
c.1860C>G (p.Ile620Met)
n.2106C>G
11g.77174821C>TCA475794567MYO7Ac.2001C>T (p.Ile667=)
c.66C>T (p.Ile22=)
c.1968C>T (p.Ile656=)
c.1770C>T (p.Ile590=)
c.1743C>T (p.Ile581=)
n.2321C>T
n.2323C>T
c.2091C>T (p.Ile697=)
c.1860C>T (p.Ile620=)
n.2106C>T
 ClinVar dbSNP
11g.77174822C>ACA381939288MYO7Ac.2002C>A (p.Arg668Ser)
c.67C>A (p.Arg23Ser)
c.1969C>A (p.Arg657Ser)
c.1771C>A (p.Arg591Ser)
c.1744C>A (p.Arg582Ser)
n.2322C>A
n.2324C>A
c.2092C>A (p.Arg698Ser)
c.1861C>A (p.Arg621Ser)
n.2107C>A
11g.77174822C=CA1984113746MYO7Ac.2002C= (p.Arg668=)
c.67C= (p.Arg23=)
c.1969C= (p.Arg657=)
c.1771C= (p.Arg591=)
c.1744C= (p.Arg582=)
n.2322C=
n.2324C=
c.2092C= (p.Arg698=)
c.1861C= (p.Arg621=)
n.2107C=
11g.77174822C>GCA381939289MYO7Ac.2002C>G (p.Arg668Gly)
c.67C>G (p.Arg23Gly)
c.1969C>G (p.Arg657Gly)
c.1771C>G (p.Arg591Gly)
c.1744C>G (p.Arg582Gly)
n.2322C>G
n.2324C>G
c.2092C>G (p.Arg698Gly)
c.1861C>G (p.Arg621Gly)
n.2107C>G
11g.77174822C>TCA132231MYO7Ac.2002C>T (p.Arg668Cys)
c.67C>T (p.Arg23Cys)
c.1969C>T (p.Arg657Cys)
c.1771C>T (p.Arg591Cys)
c.1744C>T (p.Arg582Cys)
n.2322C>T
n.2324C>T
c.2092C>T (p.Arg698Cys)
c.1861C>T (p.Arg621Cys)
n.2107C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174823G>ACA224837120MYO7Ac.2003G>A (p.Arg668His)
c.68G>A (p.Arg23His)
c.1970G>A (p.Arg657His)
c.1772G>A (p.Arg591His)
c.1745G>A (p.Arg582His)
n.2323G>A
n.2325G>A
c.2093G>A (p.Arg698His)
c.1862G>A (p.Arg621His)
n.2108G>A
 ClinVar dbSNP gnomAD v4
11g.77174823G>CCA6197661MYO7Ac.2003G>C (p.Arg668Pro)
c.68G>C (p.Arg23Pro)
c.1970G>C (p.Arg657Pro)
c.1772G>C (p.Arg591Pro)
c.1745G>C (p.Arg582Pro)
n.2323G>C
n.2325G>C
c.2093G>C (p.Arg698Pro)
c.1862G>C (p.Arg621Pro)
n.2108G>C
 ClinVar dbSNP ExAC gnomAD v2
11g.77174823G=CA1984113765MYO7Ac.2003G= (p.Arg668=)
c.68G= (p.Arg23=)
c.1970G= (p.Arg657=)
c.1772G= (p.Arg591=)
c.1745G= (p.Arg582=)
n.2323G=
n.2325G=
c.2093G= (p.Arg698=)
c.1862G= (p.Arg621=)
n.2108G=
11g.77174823G>TCA381939293MYO7Ac.2003G>T (p.Arg668Leu)
c.68G>T (p.Arg23Leu)
c.1970G>T (p.Arg657Leu)
c.1772G>T (p.Arg591Leu)
c.1745G>T (p.Arg582Leu)
n.2323G>T
n.2325G>T
c.2093G>T (p.Arg698Leu)
c.1862G>T (p.Arg621Leu)
n.2108G>T
 ClinVar dbSNP
11g.77174824C>ACA475794568MYO7Ac.2004C>A (p.Arg668=)
c.69C>A (p.Arg23=)
c.1971C>A (p.Arg657=)
c.1773C>A (p.Arg591=)
c.1746C>A (p.Arg582=)
n.2324C>A
n.2326C>A
c.2094C>A (p.Arg698=)
c.1863C>A (p.Arg621=)
n.2109C>A
 dbSNP
11g.77174824C=CA1984113777MYO7Ac.2004C= (p.Arg668=)
c.69C= (p.Arg23=)
c.1971C= (p.Arg657=)
c.1773C= (p.Arg591=)
c.1746C= (p.Arg582=)
n.2324C=
n.2326C=
c.2094C= (p.Arg698=)
c.1863C= (p.Arg621=)
n.2109C=
11g.77174824C>GCA475794569MYO7Ac.2004C>G (p.Arg668=)
c.69C>G (p.Arg23=)
c.1971C>G (p.Arg657=)
c.1773C>G (p.Arg591=)
c.1746C>G (p.Arg582=)
n.2324C>G
n.2326C>G
c.2094C>G (p.Arg698=)
c.1863C>G (p.Arg621=)
n.2109C>G
11g.77174824C>TCA475794570MYO7Ac.2004C>T (p.Arg668=)
c.69C>T (p.Arg23=)
c.1971C>T (p.Arg657=)
c.1773C>T (p.Arg591=)
c.1746C>T (p.Arg582=)
n.2324C>T
n.2326C>T
c.2094C>T (p.Arg698=)
c.1863C>T (p.Arg621=)
n.2109C>T
11g.77174825C>ACA6197662MYO7Ac.2005C>A (p.Arg669=)
c.70C>A (p.Arg24=)
c.1972C>A (p.Arg658=)
c.1774C>A (p.Arg592=)
c.1747C>A (p.Arg583=)
n.2325C>A
n.2327C>A
c.2095C>A (p.Arg699=)
c.1864C>A (p.Arg622=)
n.2110C>A
 dbSNP ExAC gnomAD v2
11g.77174825C=CA1984113784MYO7Ac.2005C= (p.Arg669=)
c.70C= (p.Arg24=)
c.1972C= (p.Arg658=)
c.1774C= (p.Arg592=)
c.1747C= (p.Arg583=)
n.2325C=
n.2327C=
c.2095C= (p.Arg699=)
c.1864C= (p.Arg622=)
n.2110C=
11g.77174825C>GCA381939296MYO7Ac.2005C>G (p.Arg669Gly)
c.70C>G (p.Arg24Gly)
c.1972C>G (p.Arg658Gly)
c.1774C>G (p.Arg592Gly)
c.1747C>G (p.Arg583Gly)
n.2325C>G
n.2327C>G
c.2095C>G (p.Arg699Gly)
c.1864C>G (p.Arg622Gly)
n.2110C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77174825C>TCA278640MYO7Ac.2005C>T (p.Arg669Ter)
c.70C>T (p.Arg24Ter)
c.1972C>T (p.Arg658Ter)
c.1774C>T (p.Arg592Ter)
c.1747C>T (p.Arg583Ter)
n.2325C>T
n.2327C>T
c.2095C>T (p.Arg699Ter)
c.1864C>T (p.Arg622Ter)
n.2110C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174826G>ACA6197663MYO7Ac.2006G>A (p.Arg669Gln)
c.71G>A (p.Arg24Gln)
c.1973G>A (p.Arg658Gln)
c.1775G>A (p.Arg592Gln)
c.1748G>A (p.Arg583Gln)
n.2326G>A
n.2328G>A
c.2096G>A (p.Arg699Gln)
c.1865G>A (p.Arg622Gln)
n.2111G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174826G>CCA381939297MYO7Ac.2006G>C (p.Arg669Pro)
c.71G>C (p.Arg24Pro)
c.1973G>C (p.Arg658Pro)
c.1775G>C (p.Arg592Pro)
c.1748G>C (p.Arg583Pro)
n.2326G>C
n.2328G>C
c.2096G>C (p.Arg699Pro)
c.1865G>C (p.Arg622Pro)
n.2111G>C
11g.77174826G=CA1984113794MYO7Ac.2006G= (p.Arg669=)
c.71G= (p.Arg24=)
c.1973G= (p.Arg658=)
c.1775G= (p.Arg592=)
c.1748G= (p.Arg583=)
n.2326G=
n.2328G=
c.2096G= (p.Arg699=)
c.1865G= (p.Arg622=)
n.2111G=
11g.77174826G>TCA381939298MYO7Ac.2006G>T (p.Arg669Leu)
c.71G>T (p.Arg24Leu)
c.1973G>T (p.Arg658Leu)
c.1775G>T (p.Arg592Leu)
c.1748G>T (p.Arg583Leu)
n.2326G>T
n.2328G>T
c.2096G>T (p.Arg699Leu)
c.1865G>T (p.Arg622Leu)
n.2111G>T
11g.77174827A>CCA475794573MYO7Ac.2007A>C (p.Arg669=)
c.72A>C (p.Arg24=)
c.1974A>C (p.Arg658=)
c.1776A>C (p.Arg592=)
c.1749A>C (p.Arg583=)
n.2327A>C
n.2329A>C
c.2097A>C (p.Arg699=)
c.1866A>C (p.Arg622=)
n.2112A>C
11g.77174827A>GCA475794571MYO7Ac.2007A>G (p.Arg669=)
c.72A>G (p.Arg24=)
c.1974A>G (p.Arg658=)
c.1776A>G (p.Arg592=)
c.1749A>G (p.Arg583=)
n.2327A>G
n.2329A>G
c.2097A>G (p.Arg699=)
c.1866A>G (p.Arg622=)
n.2112A>G
11g.77174827A>TCA475794572MYO7Ac.2007A>T (p.Arg669=)
c.72A>T (p.Arg24=)
c.1974A>T (p.Arg658=)
c.1776A>T (p.Arg592=)
c.1749A>T (p.Arg583=)
n.2327A>T
n.2329A>T
c.2097A>T (p.Arg699=)
c.1866A>T (p.Arg622=)
n.2112A>T
11g.77174828G>ACA381939300MYO7Ac.2008G>A (p.Ala670Thr)
c.73G>A (p.Ala25Thr)
c.1975G>A (p.Ala659Thr)
c.1777G>A (p.Ala593Thr)
c.1750G>A (p.Ala584Thr)
n.2328G>A
n.2330G>A
c.2098G>A (p.Ala700Thr)
c.1867G>A (p.Ala623Thr)
n.2113G>A
11g.77174828G>CCA381939302MYO7Ac.2008G>C (p.Ala670Pro)
c.73G>C (p.Ala25Pro)
c.1975G>C (p.Ala659Pro)
c.1777G>C (p.Ala593Pro)
c.1750G>C (p.Ala584Pro)
n.2328G>C
n.2330G>C
c.2098G>C (p.Ala700Pro)
c.1867G>C (p.Ala623Pro)
n.2113G>C
 gnomAD v4
11g.77174828G>TCA381939304MYO7Ac.2008G>T (p.Ala670Ser)
c.73G>T (p.Ala25Ser)
c.1975G>T (p.Ala659Ser)
c.1777G>T (p.Ala593Ser)
c.1750G>T (p.Ala584Ser)
n.2328G>T
n.2330G>T
c.2098G>T (p.Ala700Ser)
c.1867G>T (p.Ala623Ser)
n.2113G>T
11g.77174829C>ACA381939308MYO7Ac.2009C>A (p.Ala670Asp)
c.74C>A (p.Ala25Asp)
c.1976C>A (p.Ala659Asp)
c.1778C>A (p.Ala593Asp)
c.1751C>A (p.Ala584Asp)
n.2329C>A
n.2331C>A
c.2099C>A (p.Ala700Asp)
c.1868C>A (p.Ala623Asp)
n.2114C>A
11g.77174829C>GCA381939306MYO7Ac.2009C>G (p.Ala670Gly)
c.74C>G (p.Ala25Gly)
c.1976C>G (p.Ala659Gly)
c.1778C>G (p.Ala593Gly)
c.1751C>G (p.Ala584Gly)
n.2329C>G
n.2331C>G
c.2099C>G (p.Ala700Gly)
c.1868C>G (p.Ala623Gly)
n.2114C>G
11g.77174829C>TCA381939305MYO7Ac.2009C>T (p.Ala670Val)
c.74C>T (p.Ala25Val)
c.1976C>T (p.Ala659Val)
c.1778C>T (p.Ala593Val)
c.1751C>T (p.Ala584Val)
n.2329C>T
n.2331C>T
c.2099C>T (p.Ala700Val)
c.1868C>T (p.Ala623Val)
n.2114C>T
11g.77174830T>ACA475794574MYO7Ac.2010T>A (p.Ala670=)
c.75T>A (p.Ala25=)
c.1977T>A (p.Ala659=)
c.1779T>A (p.Ala593=)
c.1752T>A (p.Ala584=)
n.2330T>A
n.2332T>A
c.2100T>A (p.Ala700=)
c.1869T>A (p.Ala623=)
n.2115T>A
11g.77174830T>CCA475794575MYO7Ac.2010T>C (p.Ala670=)
c.75T>C (p.Ala25=)
c.1977T>C (p.Ala659=)
c.1779T>C (p.Ala593=)
c.1752T>C (p.Ala584=)
n.2330T>C
n.2332T>C
c.2100T>C (p.Ala700=)
c.1869T>C (p.Ala623=)
n.2115T>C
 gnomAD v4
11g.77174830T>GCA475794576MYO7Ac.2010T>G (p.Ala670=)
c.75T>G (p.Ala25=)
c.1977T>G (p.Ala659=)
c.1779T>G (p.Ala593=)
c.1752T>G (p.Ala584=)
n.2330T>G
n.2332T>G
c.2100T>G (p.Ala700=)
c.1869T>G (p.Ala623=)
n.2115T>G
11g.77174831G>ACA177376MYO7Ac.2011G>A (p.Gly671Ser)
c.76G>A (p.Gly26Ser)
c.1978G>A (p.Gly660Ser)
c.1780G>A (p.Gly594Ser)
c.1753G>A (p.Gly585Ser)
n.2331G>A
n.2333G>A
c.2101G>A (p.Gly701Ser)
c.1870G>A (p.Gly624Ser)
n.2116G>A
 ClinVar dbSNP
11g.77174831G>CCA381939310MYO7Ac.2011G>C (p.Gly671Arg)
c.76G>C (p.Gly26Arg)
c.1978G>C (p.Gly660Arg)
c.1780G>C (p.Gly594Arg)
c.1753G>C (p.Gly585Arg)
n.2331G>C
n.2333G>C
c.2101G>C (p.Gly701Arg)
c.1870G>C (p.Gly624Arg)
n.2116G>C
11g.77174831G=CA1984113805MYO7Ac.2011G= (p.Gly671=)
c.76G= (p.Gly26=)
c.1978G= (p.Gly660=)
c.1780G= (p.Gly594=)
c.1753G= (p.Gly585=)
n.2331G=
n.2333G=
c.2101G= (p.Gly701=)
c.1870G= (p.Gly624=)
n.2116G=
11g.77174831G>TCA381939312MYO7Ac.2011G>T (p.Gly671Cys)
c.76G>T (p.Gly26Cys)
c.1978G>T (p.Gly660Cys)
c.1780G>T (p.Gly594Cys)
c.1753G>T (p.Gly585Cys)
n.2331G>T
n.2333G>T
c.2101G>T (p.Gly701Cys)
c.1870G>T (p.Gly624Cys)
n.2116G>T
11g.77174832G>ACA381939313MYO7Ac.2012G>A (p.Gly671Asp)
c.77G>A (p.Gly26Asp)
c.1979G>A (p.Gly660Asp)
c.1781G>A (p.Gly594Asp)
c.1754G>A (p.Gly585Asp)
n.2332G>A
n.2334G>A
c.2102G>A (p.Gly701Asp)
c.1871G>A (p.Gly624Asp)
n.2117G>A
 gnomAD v4
11g.77174832G>CCA381939314MYO7Ac.2012G>C (p.Gly671Ala)
c.77G>C (p.Gly26Ala)
c.1979G>C (p.Gly660Ala)
c.1781G>C (p.Gly594Ala)
c.1754G>C (p.Gly585Ala)
n.2332G>C
n.2334G>C
c.2102G>C (p.Gly701Ala)
c.1871G>C (p.Gly624Ala)
n.2117G>C
 dbSNP
11g.77174832G=CA1984113808MYO7Ac.2012G= (p.Gly671=)
c.77G= (p.Gly26=)
c.1979G= (p.Gly660=)
c.1781G= (p.Gly594=)
c.1754G= (p.Gly585=)
n.2332G=
n.2334G=
c.2102G= (p.Gly701=)
c.1871G= (p.Gly624=)
n.2117G=
11g.77174832G>TCA381939315MYO7Ac.2012G>T (p.Gly671Val)
c.77G>T (p.Gly26Val)
c.1979G>T (p.Gly660Val)
c.1781G>T (p.Gly594Val)
c.1754G>T (p.Gly585Val)
n.2332G>T
n.2334G>T
c.2102G>T (p.Gly701Val)
c.1871G>T (p.Gly624Val)
n.2117G>T
 dbSNP gnomAD v2 gnomAD v4
11g.77174833C>ACA475794577MYO7Ac.2013C>A (p.Gly671=)
c.78C>A (p.Gly26=)
c.1980C>A (p.Gly660=)
c.1782C>A (p.Gly594=)
c.1755C>A (p.Gly585=)
n.2333C>A
n.2335C>A
c.2103C>A (p.Gly701=)
c.1872C>A (p.Gly624=)
n.2118C>A
11g.77174833C>GCA475794578MYO7Ac.2013C>G (p.Gly671=)
c.78C>G (p.Gly26=)
c.1980C>G (p.Gly660=)
c.1782C>G (p.Gly594=)
c.1755C>G (p.Gly585=)
n.2333C>G
n.2335C>G
c.2103C>G (p.Gly701=)
c.1872C>G (p.Gly624=)
n.2118C>G
11g.77174833C>TCA475794579MYO7Ac.2013C>T (p.Gly671=)
c.78C>T (p.Gly26=)
c.1980C>T (p.Gly660=)
c.1782C>T (p.Gly594=)
c.1755C>T (p.Gly585=)
n.2333C>T
n.2335C>T
c.2103C>T (p.Gly701=)
c.1872C>T (p.Gly624=)
n.2118C>T
11g.77174834T>ACA381939317MYO7Ac.2014T>A (p.Tyr672Asn)
c.79T>A (p.Tyr27Asn)
c.1981T>A (p.Tyr661Asn)
c.1783T>A (p.Tyr595Asn)
c.1756T>A (p.Tyr586Asn)
n.2334T>A
n.2336T>A
c.2104T>A (p.Tyr702Asn)
c.1873T>A (p.Tyr625Asn)
n.2119T>A
11g.77174834T>CCA6197664MYO7Ac.2014T>C (p.Tyr672His)
c.79T>C (p.Tyr27His)
c.1981T>C (p.Tyr661His)
c.1783T>C (p.Tyr595His)
c.1756T>C (p.Tyr586His)
n.2334T>C
n.2336T>C
c.2104T>C (p.Tyr702His)
c.1873T>C (p.Tyr625His)
n.2119T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174834T>GCA381939319MYO7Ac.2014T>G (p.Tyr672Asp)
c.79T>G (p.Tyr27Asp)
c.1981T>G (p.Tyr661Asp)
c.1783T>G (p.Tyr595Asp)
c.1756T>G (p.Tyr586Asp)
n.2334T>G
n.2336T>G
c.2104T>G (p.Tyr702Asp)
c.1873T>G (p.Tyr625Asp)
n.2119T>G
11g.77174834T=CA1984113815MYO7Ac.2014T= (p.Tyr672=)
c.79T= (p.Tyr27=)
c.1981T= (p.Tyr661=)
c.1783T= (p.Tyr595=)
c.1756T= (p.Tyr586=)
n.2334T=
n.2336T=
c.2104T= (p.Tyr702=)
c.1873T= (p.Tyr625=)
n.2119T=
11g.77174835A=CA1984113819MYO7Ac.2015A= (p.Tyr672=)
c.80A= (p.Tyr27=)
c.1982A= (p.Tyr661=)
c.1784A= (p.Tyr595=)
c.1757A= (p.Tyr586=)
n.2335A=
n.2337A=
c.2105A= (p.Tyr702=)
c.1874A= (p.Tyr625=)
n.2120A=
11g.77174835A>CCA381939321MYO7Ac.2015A>C (p.Tyr672Ser)
c.80A>C (p.Tyr27Ser)
c.1982A>C (p.Tyr661Ser)
c.1784A>C (p.Tyr595Ser)
c.1757A>C (p.Tyr586Ser)
n.2335A>C
n.2337A>C
c.2105A>C (p.Tyr702Ser)
c.1874A>C (p.Tyr625Ser)
n.2120A>C
 dbSNP
11g.77174835A>GCA381939323MYO7Ac.2015A>G (p.Tyr672Cys)
c.80A>G (p.Tyr27Cys)
c.1982A>G (p.Tyr661Cys)
c.1784A>G (p.Tyr595Cys)
c.1757A>G (p.Tyr586Cys)
n.2335A>G
n.2337A>G
c.2105A>G (p.Tyr702Cys)
c.1874A>G (p.Tyr625Cys)
n.2120A>G
11g.77174835A>TCA381939324MYO7Ac.2015A>T (p.Tyr672Phe)
c.80A>T (p.Tyr27Phe)
c.1982A>T (p.Tyr661Phe)
c.1784A>T (p.Tyr595Phe)
c.1757A>T (p.Tyr586Phe)
n.2335A>T
n.2337A>T
c.2105A>T (p.Tyr702Phe)
c.1874A>T (p.Tyr625Phe)
n.2120A>T
11g.77174835_77174836delinsACCA1984113820MYO7Ac.2015_2016delinsAC (p.Tyr672=)
c.80_81delinsAC (p.Tyr27=)
c.1982_1983delinsAC (p.Tyr661=)
c.1784_1785delinsAC (p.Tyr595=)
c.1757_1758delinsAC (p.Tyr586=)
n.2335_2336delinsAC
n.2337_2338delinsAC
c.2105_2106delinsAC (p.Tyr702=)
c.1874_1875delinsAC (p.Tyr625=)
n.2120_2121delinsAC
11g.77174836C>ACA381939325MYO7Ac.2016C>A (p.Tyr672Ter)
c.81C>A (p.Tyr27Ter)
c.1983C>A (p.Tyr661Ter)
c.1785C>A (p.Tyr595Ter)
c.1758C>A (p.Tyr586Ter)
n.2336C>A
n.2338C>A
c.2106C>A (p.Tyr702Ter)
c.1875C>A (p.Tyr625Ter)
n.2121C>A
11g.77174836C=CA1984113828MYO7Ac.2016C= (p.Tyr672=)
c.81C= (p.Tyr27=)
c.1983C= (p.Tyr661=)
c.1785C= (p.Tyr595=)
c.1758C= (p.Tyr586=)
n.2336C=
n.2338C=
c.2106C= (p.Tyr702=)
c.1875C= (p.Tyr625=)
n.2121C=
11g.77174836C>GCA381939327MYO7Ac.2016C>G (p.Tyr672Ter)
c.81C>G (p.Tyr27Ter)
c.1983C>G (p.Tyr661Ter)
c.1785C>G (p.Tyr595Ter)
c.1758C>G (p.Tyr586Ter)
n.2336C>G
n.2338C>G
c.2106C>G (p.Tyr702Ter)
c.1875C>G (p.Tyr625Ter)
n.2121C>G
11g.77174836C>TCA475794580MYO7Ac.2016C>T (p.Tyr672=)
c.81C>T (p.Tyr27=)
c.1983C>T (p.Tyr661=)
c.1785C>T (p.Tyr595=)
c.1758C>T (p.Tyr586=)
n.2336C>T
n.2338C>T
c.2106C>T (p.Tyr702=)
c.1875C>T (p.Tyr625=)
n.2121C>T
 dbSNP gnomAD v4
11g.77174839delCA680376819MYO7Ac.2019del (p.Ile674SerfsTer6)
c.84del (p.Ile29SerfsTer6)
c.1986del (p.Ile663SerfsTer6)
c.1788del (p.Ile597SerfsTer6)
c.1761del (p.Ile588SerfsTer6)
n.2339del
n.2341del
c.2109del (p.Ile704SerfsTer6)
c.1878del (p.Ile627SerfsTer6)
n.2124del
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77174837C>ACA381939329MYO7Ac.2017C>A (p.Pro673Thr)
c.82C>A (p.Pro28Thr)
c.1984C>A (p.Pro662Thr)
c.1786C>A (p.Pro596Thr)
c.1759C>A (p.Pro587Thr)
n.2337C>A
n.2339C>A
c.2107C>A (p.Pro703Thr)
c.1876C>A (p.Pro626Thr)
n.2122C>A
11g.77174837C>GCA381939330MYO7Ac.2017C>G (p.Pro673Ala)
c.82C>G (p.Pro28Ala)
c.1984C>G (p.Pro662Ala)
c.1786C>G (p.Pro596Ala)
c.1759C>G (p.Pro587Ala)
n.2337C>G
n.2339C>G
c.2107C>G (p.Pro703Ala)
c.1876C>G (p.Pro626Ala)
n.2122C>G
11g.77174837C>TCA381939331MYO7Ac.2017C>T (p.Pro673Ser)
c.82C>T (p.Pro28Ser)
c.1984C>T (p.Pro662Ser)
c.1786C>T (p.Pro596Ser)
c.1759C>T (p.Pro587Ser)
n.2337C>T
n.2339C>T
c.2107C>T (p.Pro703Ser)
c.1876C>T (p.Pro626Ser)
n.2122C>T
 gnomAD v4
11g.77174838C>ACA6197665MYO7Ac.2018C>A (p.Pro673His)
c.83C>A (p.Pro28His)
c.1985C>A (p.Pro662His)
c.1787C>A (p.Pro596His)
c.1760C>A (p.Pro587His)
n.2338C>A
n.2340C>A
c.2108C>A (p.Pro703His)
c.1877C>A (p.Pro626His)
n.2123C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174838C=CA1984113845MYO7Ac.2018C= (p.Pro673=)
c.83C= (p.Pro28=)
c.1985C= (p.Pro662=)
c.1787C= (p.Pro596=)
c.1760C= (p.Pro587=)
n.2338C=
n.2340C=
c.2108C= (p.Pro703=)
c.1877C= (p.Pro626=)
n.2123C=
11g.77174838C>GCA381939333MYO7Ac.2018C>G (p.Pro673Arg)
c.83C>G (p.Pro28Arg)
c.1985C>G (p.Pro662Arg)
c.1787C>G (p.Pro596Arg)
c.1760C>G (p.Pro587Arg)
n.2338C>G
n.2340C>G
c.2108C>G (p.Pro703Arg)
c.1877C>G (p.Pro626Arg)
n.2123C>G
11g.77174838C>TCA381939335MYO7Ac.2018C>T (p.Pro673Leu)
c.83C>T (p.Pro28Leu)
c.1985C>T (p.Pro662Leu)
c.1787C>T (p.Pro596Leu)
c.1760C>T (p.Pro587Leu)
n.2338C>T
n.2340C>T
c.2108C>T (p.Pro703Leu)
c.1877C>T (p.Pro626Leu)
n.2123C>T
 gnomAD v4
11g.77174839C>ACA475794581MYO7Ac.2019C>A (p.Pro673=)
c.84C>A (p.Pro28=)
c.1986C>A (p.Pro662=)
c.1788C>A (p.Pro596=)
c.1761C>A (p.Pro587=)
n.2339C>A
n.2341C>A
c.2109C>A (p.Pro703=)
c.1878C>A (p.Pro626=)
n.2124C>A
 gnomAD v4
11g.77174839C=CA1984113847MYO7Ac.2019C= (p.Pro673=)
c.84C= (p.Pro28=)
c.1986C= (p.Pro662=)
c.1788C= (p.Pro596=)
c.1761C= (p.Pro587=)
n.2339C=
n.2341C=
c.2109C= (p.Pro703=)
c.1878C= (p.Pro626=)
n.2124C=
11g.77174839C>GCA475794582MYO7Ac.2019C>G (p.Pro673=)
c.84C>G (p.Pro28=)
c.1986C>G (p.Pro662=)
c.1788C>G (p.Pro596=)
c.1761C>G (p.Pro587=)
n.2339C>G
n.2341C>G
c.2109C>G (p.Pro703=)
c.1878C>G (p.Pro626=)
n.2124C>G
 gnomAD v4
11g.77174839C>TCA6197666MYO7Ac.2019C>T (p.Pro673=)
c.84C>T (p.Pro28=)
c.1986C>T (p.Pro662=)
c.1788C>T (p.Pro596=)
c.1761C>T (p.Pro587=)
n.2339C>T
n.2341C>T
c.2109C>T (p.Pro703=)
c.1878C>T (p.Pro626=)
n.2124C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174840A=CA1984113849MYO7Ac.2020A= (p.Ile674=)
c.85A= (p.Ile29=)
c.1987A= (p.Ile663=)
c.1789A= (p.Ile597=)
c.1762A= (p.Ile588=)
n.2340A=
n.2342A=
c.2110A= (p.Ile704=)
c.1879A= (p.Ile627=)
n.2125A=
11g.77174840A>CCA381939337MYO7Ac.2020A>C (p.Ile674Leu)
c.85A>C (p.Ile29Leu)
c.1987A>C (p.Ile663Leu)
c.1789A>C (p.Ile597Leu)
c.1762A>C (p.Ile588Leu)
n.2340A>C
n.2342A>C
c.2110A>C (p.Ile704Leu)
c.1879A>C (p.Ile627Leu)
n.2125A>C
 ClinVar
11g.77174840A>GCA381939339MYO7Ac.2020A>G (p.Ile674Val)
c.85A>G (p.Ile29Val)
c.1987A>G (p.Ile663Val)
c.1789A>G (p.Ile597Val)
c.1762A>G (p.Ile588Val)
n.2340A>G
n.2342A>G
c.2110A>G (p.Ile704Val)
c.1879A>G (p.Ile627Val)
n.2125A>G
11g.77174840A>TCA6197667MYO7Ac.2020A>T (p.Ile674Phe)
c.85A>T (p.Ile29Phe)
c.1987A>T (p.Ile663Phe)
c.1789A>T (p.Ile597Phe)
c.1762A>T (p.Ile588Phe)
n.2340A>T
n.2342A>T
c.2110A>T (p.Ile704Phe)
c.1879A>T (p.Ile627Phe)
n.2125A>T
 dbSNP ExAC gnomAD v2
11g.77174841T>ACA381939340MYO7Ac.2021T>A (p.Ile674Asn)
c.86T>A (p.Ile29Asn)
c.1988T>A (p.Ile663Asn)
c.1790T>A (p.Ile597Asn)
c.1763T>A (p.Ile588Asn)
n.2341T>A
n.2343T>A
c.2111T>A (p.Ile704Asn)
c.1880T>A (p.Ile627Asn)
n.2126T>A
11g.77174841T>CCA381939344MYO7Ac.2021T>C (p.Ile674Thr)
c.86T>C (p.Ile29Thr)
c.1988T>C (p.Ile663Thr)
c.1790T>C (p.Ile597Thr)
c.1763T>C (p.Ile588Thr)
n.2341T>C
n.2343T>C
c.2111T>C (p.Ile704Thr)
c.1880T>C (p.Ile627Thr)
n.2126T>C
11g.77174841T>GCA381939342MYO7Ac.2021T>G (p.Ile674Ser)
c.86T>G (p.Ile29Ser)
c.1988T>G (p.Ile663Ser)
c.1790T>G (p.Ile597Ser)
c.1763T>G (p.Ile588Ser)
n.2341T>G
n.2343T>G
c.2111T>G (p.Ile704Ser)
c.1880T>G (p.Ile627Ser)
n.2126T>G
11g.77174842C>ACA475794583MYO7Ac.2022C>A (p.Ile674=)
c.87C>A (p.Ile29=)
c.1989C>A (p.Ile663=)
c.1791C>A (p.Ile597=)
c.1764C>A (p.Ile588=)
n.2342C>A
n.2344C>A
c.2112C>A (p.Ile704=)
c.1881C>A (p.Ile627=)
n.2127C>A
11g.77174842C=CA1984113853MYO7Ac.2022C= (p.Ile674=)
c.87C= (p.Ile29=)
c.1989C= (p.Ile663=)
c.1791C= (p.Ile597=)
c.1764C= (p.Ile588=)
n.2342C=
n.2344C=
c.2112C= (p.Ile704=)
c.1881C= (p.Ile627=)
n.2127C=
11g.77174842C>GCA381939345MYO7Ac.2022C>G (p.Ile674Met)
c.87C>G (p.Ile29Met)
c.1989C>G (p.Ile663Met)
c.1791C>G (p.Ile597Met)
c.1764C>G (p.Ile588Met)
n.2342C>G
n.2344C>G
c.2112C>G (p.Ile704Met)
c.1881C>G (p.Ile627Met)
n.2127C>G
11g.77174842C>TCA475794584MYO7Ac.2022C>T (p.Ile674=)
c.87C>T (p.Ile29=)
c.1989C>T (p.Ile663=)
c.1791C>T (p.Ile597=)
c.1764C>T (p.Ile588=)
n.2342C>T
n.2344C>T
c.2112C>T (p.Ile704=)
c.1881C>T (p.Ile627=)
n.2127C>T
 ClinVar dbSNP
11g.77174843C>ACA381939346MYO7Ac.2023C>A (p.Arg675Ser)
c.88C>A (p.Arg30Ser)
c.1990C>A (p.Arg664Ser)
c.1792C>A (p.Arg598Ser)
c.1765C>A (p.Arg589Ser)
n.2343C>A
n.2345C>A
c.2113C>A (p.Arg705Ser)
c.1882C>A (p.Arg628Ser)
n.2128C>A
11g.77174843C=CA1984113860MYO7Ac.2023C= (p.Arg675=)
c.88C= (p.Arg30=)
c.1990C= (p.Arg664=)
c.1792C= (p.Arg598=)
c.1765C= (p.Arg589=)
n.2343C=
n.2345C=
c.2113C= (p.Arg705=)
c.1882C= (p.Arg628=)
n.2128C=
11g.77174843C>GCA381939348MYO7Ac.2023C>G (p.Arg675Gly)
c.88C>G (p.Arg30Gly)
c.1990C>G (p.Arg664Gly)
c.1792C>G (p.Arg598Gly)
c.1765C>G (p.Arg589Gly)
n.2343C>G
n.2345C>G
c.2113C>G (p.Arg705Gly)
c.1882C>G (p.Arg628Gly)
n.2128C>G
11g.77174843C>TCA6197668MYO7Ac.2023C>T (p.Arg675Cys)
c.88C>T (p.Arg30Cys)
c.1990C>T (p.Arg664Cys)
c.1792C>T (p.Arg598Cys)
c.1765C>T (p.Arg589Cys)
n.2343C>T
n.2345C>T
c.2113C>T (p.Arg705Cys)
c.1882C>T (p.Arg628Cys)
n.2128C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174844G>ACA6197669MYO7Ac.2024G>A (p.Arg675His)
c.89G>A (p.Arg30His)
c.1991G>A (p.Arg664His)
c.1793G>A (p.Arg598His)
c.1766G>A (p.Arg589His)
n.2344G>A
n.2346G>A
c.2114G>A (p.Arg705His)
c.1883G>A (p.Arg628His)
n.2129G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77174844G>CCA381939351MYO7Ac.2024G>C (p.Arg675Pro)
c.89G>C (p.Arg30Pro)
c.1991G>C (p.Arg664Pro)
c.1793G>C (p.Arg598Pro)
c.1766G>C (p.Arg589Pro)
n.2344G>C
n.2346G>C
c.2114G>C (p.Arg705Pro)
c.1883G>C (p.Arg628Pro)
n.2129G>C
11g.77174844G=CA1984113864MYO7Ac.2024G= (p.Arg675=)
c.89G= (p.Arg30=)
c.1991G= (p.Arg664=)
c.1793G= (p.Arg598=)
c.1766G= (p.Arg589=)
n.2344G=
n.2346G=
c.2114G= (p.Arg705=)
c.1883G= (p.Arg628=)
n.2129G=
11g.77174844G>TCA381939352MYO7Ac.2024G>T (p.Arg675Leu)
c.89G>T (p.Arg30Leu)
c.1991G>T (p.Arg664Leu)
c.1793G>T (p.Arg598Leu)
c.1766G>T (p.Arg589Leu)
n.2344G>T
n.2346G>T
c.2114G>T (p.Arg705Leu)
c.1883G>T (p.Arg628Leu)
n.2129G>T
11g.77174845C>ACA475794585MYO7Ac.2025C>A (p.Arg675=)
c.90C>A (p.Arg30=)
c.1992C>A (p.Arg664=)
c.1794C>A (p.Arg598=)
c.1767C>A (p.Arg589=)
n.2345C>A
n.2347C>A
c.2115C>A (p.Arg705=)
c.1884C>A (p.Arg628=)
n.2130C>A
11g.77174845C=CA1984113868MYO7Ac.2025C= (p.Arg675=)
c.90C= (p.Arg30=)
c.1992C= (p.Arg664=)
c.1794C= (p.Arg598=)
c.1767C= (p.Arg589=)
n.2345C=
n.2347C=
c.2115C= (p.Arg705=)
c.1884C= (p.Arg628=)
n.2130C=
11g.77174845C>GCA475794586MYO7Ac.2025C>G (p.Arg675=)
c.90C>G (p.Arg30=)
c.1992C>G (p.Arg664=)
c.1794C>G (p.Arg598=)
c.1767C>G (p.Arg589=)
n.2345C>G
n.2347C>G
c.2115C>G (p.Arg705=)
c.1884C>G (p.Arg628=)
n.2130C>G
11g.77174845C>TCA240821MYO7Ac.2025C>T (p.Arg675=)
c.90C>T (p.Arg30=)
c.1992C>T (p.Arg664=)
c.1794C>T (p.Arg598=)
c.1767C>T (p.Arg589=)
n.2345C>T
n.2347C>T
c.2115C>T (p.Arg705=)
c.1884C>T (p.Arg628=)
n.2130C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77174846T>ACA381939355MYO7Ac.2026T>A (p.Tyr676Asn)
c.91T>A (p.Tyr31Asn)
c.1993T>A (p.Tyr665Asn)
c.1795T>A (p.Tyr599Asn)
c.1768T>A (p.Tyr590Asn)
n.2346T>A
n.2348T>A
c.2116T>A (p.Tyr706Asn)
c.1885T>A (p.Tyr629Asn)
n.2131T>A
 dbSNP
11g.77174846T>CCA6197670MYO7Ac.2026T>C (p.Tyr676His)
c.91T>C (p.Tyr31His)
c.1993T>C (p.Tyr665His)
c.1795T>C (p.Tyr599His)
c.1768T>C (p.Tyr590His)
n.2346T>C
n.2348T>C
c.2116T>C (p.Tyr706His)
c.1885T>C (p.Tyr629His)
n.2131T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174846T>GCA381939357MYO7Ac.2026T>G (p.Tyr676Asp)
c.91T>G (p.Tyr31Asp)
c.1993T>G (p.Tyr665Asp)
c.1795T>G (p.Tyr599Asp)
c.1768T>G (p.Tyr590Asp)
n.2346T>G
n.2348T>G
c.2116T>G (p.Tyr706Asp)
c.1885T>G (p.Tyr629Asp)
n.2131T>G
11g.77174846T=CA1984113872MYO7Ac.2026T= (p.Tyr676=)
c.91T= (p.Tyr31=)
c.1993T= (p.Tyr665=)
c.1795T= (p.Tyr599=)
c.1768T= (p.Tyr590=)
n.2346T=
n.2348T=
c.2116T= (p.Tyr706=)
c.1885T= (p.Tyr629=)
n.2131T=
11g.77174847A>CCA381939362MYO7Ac.2027A>C (p.Tyr676Ser)
c.92A>C (p.Tyr31Ser)
c.1994A>C (p.Tyr665Ser)
c.1796A>C (p.Tyr599Ser)
c.1769A>C (p.Tyr590Ser)
n.2347A>C
n.2349A>C
c.2117A>C (p.Tyr706Ser)
c.1886A>C (p.Tyr629Ser)
n.2132A>C
11g.77174847A>GCA381939359MYO7Ac.2027A>G (p.Tyr676Cys)
c.92A>G (p.Tyr31Cys)
c.1994A>G (p.Tyr665Cys)
c.1796A>G (p.Tyr599Cys)
c.1769A>G (p.Tyr590Cys)
n.2347A>G
n.2349A>G
c.2117A>G (p.Tyr706Cys)
c.1886A>G (p.Tyr629Cys)
n.2132A>G
 gnomAD v4
11g.77174847A>TCA381939360MYO7Ac.2027A>T (p.Tyr676Phe)
c.92A>T (p.Tyr31Phe)
c.1994A>T (p.Tyr665Phe)
c.1796A>T (p.Tyr599Phe)
c.1769A>T (p.Tyr590Phe)
n.2347A>T
n.2349A>T
c.2117A>T (p.Tyr706Phe)
c.1886A>T (p.Tyr629Phe)
n.2132A>T
11g.77174848C>ACA381939363MYO7Ac.2028C>A (p.Tyr676Ter)
c.93C>A (p.Tyr31Ter)
c.1995C>A (p.Tyr665Ter)
c.1797C>A (p.Tyr599Ter)
c.1770C>A (p.Tyr590Ter)
n.2348C>A
n.2350C>A
c.2118C>A (p.Tyr706Ter)
c.1887C>A (p.Tyr629Ter)
n.2133C>A
11g.77174848C>GCA381939365MYO7Ac.2028C>G (p.Tyr676Ter)
c.93C>G (p.Tyr31Ter)
c.1995C>G (p.Tyr665Ter)
c.1797C>G (p.Tyr599Ter)
c.1770C>G (p.Tyr590Ter)
n.2348C>G
n.2350C>G
c.2118C>G (p.Tyr706Ter)
c.1887C>G (p.Tyr629Ter)
n.2133C>G
11g.77174848C>TCA475794587MYO7Ac.2028C>T (p.Tyr676=)
c.93C>T (p.Tyr31=)
c.1995C>T (p.Tyr665=)
c.1797C>T (p.Tyr599=)
c.1770C>T (p.Tyr590=)
n.2348C>T
n.2350C>T
c.2118C>T (p.Tyr706=)
c.1887C>T (p.Tyr629=)
n.2133C>T
11g.77174849A>CCA381939366MYO7Ac.2029A>C (p.Ser677Arg)
c.94A>C (p.Ser32Arg)
c.1996A>C (p.Ser666Arg)
c.1798A>C (p.Ser600Arg)
c.1771A>C (p.Ser591Arg)
n.2349A>C
n.2351A>C
c.2119A>C (p.Ser707Arg)
c.1888A>C (p.Ser630Arg)
n.2134A>C
11g.77174849A>GCA381939368MYO7Ac.2029A>G (p.Ser677Gly)
c.94A>G (p.Ser32Gly)
c.1996A>G (p.Ser666Gly)
c.1798A>G (p.Ser600Gly)
c.1771A>G (p.Ser591Gly)
n.2349A>G
n.2351A>G
c.2119A>G (p.Ser707Gly)
c.1888A>G (p.Ser630Gly)
n.2134A>G
11g.77174849A>TCA381939370MYO7Ac.2029A>T (p.Ser677Cys)
c.94A>T (p.Ser32Cys)
c.1996A>T (p.Ser666Cys)
c.1798A>T (p.Ser600Cys)
c.1771A>T (p.Ser591Cys)
n.2349A>T
n.2351A>T
c.2119A>T (p.Ser707Cys)
c.1888A>T (p.Ser630Cys)
n.2134A>T
11g.77174850G>ACA381939372MYO7Ac.2030G>A (p.Ser677Asn)
c.95G>A (p.Ser32Asn)
c.1997G>A (p.Ser666Asn)
c.1799G>A (p.Ser600Asn)
c.1772G>A (p.Ser591Asn)
n.2350G>A
n.2352G>A
c.2120G>A (p.Ser707Asn)
c.1889G>A (p.Ser630Asn)
n.2135G>A
11g.77174850G>CCA381939373MYO7Ac.2030G>C (p.Ser677Thr)
c.95G>C (p.Ser32Thr)
c.1997G>C (p.Ser666Thr)
c.1799G>C (p.Ser600Thr)
c.1772G>C (p.Ser591Thr)
n.2350G>C
n.2352G>C
c.2120G>C (p.Ser707Thr)
c.1889G>C (p.Ser630Thr)
n.2135G>C
11g.77174850G>TCA381939374MYO7Ac.2030G>T (p.Ser677Ile)
c.95G>T (p.Ser32Ile)
c.1997G>T (p.Ser666Ile)
c.1799G>T (p.Ser600Ile)
c.1772G>T (p.Ser591Ile)
n.2350G>T
n.2352G>T
c.2120G>T (p.Ser707Ile)
c.1889G>T (p.Ser630Ile)
n.2135G>T
11g.77174851C>ACA381939375MYO7Ac.2031C>A (p.Ser677Arg)
c.96C>A (p.Ser32Arg)
c.1998C>A (p.Ser666Arg)
c.1800C>A (p.Ser600Arg)
c.1773C>A (p.Ser591Arg)
n.2351C>A
n.2353C>A
c.2121C>A (p.Ser707Arg)
c.1890C>A (p.Ser630Arg)
n.2136C>A
11g.77174851C=CA1984113876MYO7Ac.2031C= (p.Ser677=)
c.96C= (p.Ser32=)
c.1998C= (p.Ser666=)
c.1800C= (p.Ser600=)
c.1773C= (p.Ser591=)
n.2351C=
n.2353C=
c.2121C= (p.Ser707=)
c.1890C= (p.Ser630=)
n.2136C=
11g.77174851C>GCA381939376MYO7Ac.2031C>G (p.Ser677Arg)
c.96C>G (p.Ser32Arg)
c.1998C>G (p.Ser666Arg)
c.1800C>G (p.Ser600Arg)
c.1773C>G (p.Ser591Arg)
n.2351C>G
n.2353C>G
c.2121C>G (p.Ser707Arg)
c.1890C>G (p.Ser630Arg)
n.2136C>G
11g.77174851C>TCA475794588MYO7Ac.2031C>T (p.Ser677=)
c.96C>T (p.Ser32=)
c.1998C>T (p.Ser666=)
c.1800C>T (p.Ser600=)
c.1773C>T (p.Ser591=)
n.2351C>T
n.2353C>T
c.2121C>T (p.Ser707=)
c.1890C>T (p.Ser630=)
n.2136C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77174852T>ACA381939378MYO7Ac.2032T>A (p.Phe678Ile)
c.97T>A (p.Phe33Ile)
c.1999T>A (p.Phe667Ile)
c.1801T>A (p.Phe601Ile)
c.1774T>A (p.Phe592Ile)
n.2352T>A
n.2354T>A
c.2122T>A (p.Phe708Ile)
c.1891T>A (p.Phe631Ile)
n.2137T>A
11g.77174852T>CCA381939379MYO7Ac.2032T>C (p.Phe678Leu)
c.97T>C (p.Phe33Leu)
c.1999T>C (p.Phe667Leu)
c.1801T>C (p.Phe601Leu)
c.1774T>C (p.Phe592Leu)
n.2352T>C
n.2354T>C
c.2122T>C (p.Phe708Leu)
c.1891T>C (p.Phe631Leu)
n.2137T>C
11g.77174852T>GCA381939377MYO7Ac.2032T>G (p.Phe678Val)
c.97T>G (p.Phe33Val)
c.1999T>G (p.Phe667Val)
c.1801T>G (p.Phe601Val)
c.1774T>G (p.Phe592Val)
n.2352T>G
n.2354T>G
c.2122T>G (p.Phe708Val)
c.1891T>G (p.Phe631Val)
n.2137T>G
11g.77174853T>ACA381939381MYO7Ac.2033T>A (p.Phe678Tyr)
c.98T>A (p.Phe33Tyr)
c.2000T>A (p.Phe667Tyr)
c.1802T>A (p.Phe601Tyr)
c.1775T>A (p.Phe592Tyr)
n.2353T>A
n.2355T>A
c.2123T>A (p.Phe708Tyr)
c.1892T>A (p.Phe631Tyr)
n.2138T>A
11g.77174853T>CCA381939382MYO7Ac.2033T>C (p.Phe678Ser)
c.98T>C (p.Phe33Ser)
c.2000T>C (p.Phe667Ser)
c.1802T>C (p.Phe601Ser)
c.1775T>C (p.Phe592Ser)
n.2353T>C
n.2355T>C
c.2123T>C (p.Phe708Ser)
c.1892T>C (p.Phe631Ser)
n.2138T>C
11g.77174853T>GCA381939384MYO7Ac.2033T>G (p.Phe678Cys)
c.98T>G (p.Phe33Cys)
c.2000T>G (p.Phe667Cys)
c.1802T>G (p.Phe601Cys)
c.1775T>G (p.Phe592Cys)
n.2353T>G
n.2355T>G
c.2123T>G (p.Phe708Cys)
c.1892T>G (p.Phe631Cys)
n.2138T>G
11g.77174854C>ACA381939386MYO7Ac.2034C>A (p.Phe678Leu)
c.99C>A (p.Phe33Leu)
c.2001C>A (p.Phe667Leu)
c.1803C>A (p.Phe601Leu)
c.1776C>A (p.Phe592Leu)
n.2354C>A
n.2356C>A
c.2124C>A (p.Phe708Leu)
c.1893C>A (p.Phe631Leu)
n.2139C>A
11g.77174854C=CA1984113882MYO7Ac.2034C= (p.Phe678=)
c.99C= (p.Phe33=)
c.2001C= (p.Phe667=)
c.1803C= (p.Phe601=)
c.1776C= (p.Phe592=)
n.2354C=
n.2356C=
c.2124C= (p.Phe708=)
c.1893C= (p.Phe631=)
n.2139C=
11g.77174854C>GCA381939387MYO7Ac.2034C>G (p.Phe678Leu)
c.99C>G (p.Phe33Leu)
c.2001C>G (p.Phe667Leu)
c.1803C>G (p.Phe601Leu)
c.1776C>G (p.Phe592Leu)
n.2354C>G
n.2356C>G
c.2124C>G (p.Phe708Leu)
c.1893C>G (p.Phe631Leu)
n.2139C>G
 ClinVar gnomAD v4
11g.77174854C>TCA6197671MYO7Ac.2034C>T (p.Phe678=)
c.99C>T (p.Phe33=)
c.2001C>T (p.Phe667=)
c.1803C>T (p.Phe601=)
c.1776C>T (p.Phe592=)
n.2354C>T
n.2356C>T
c.2124C>T (p.Phe708=)
c.1893C>T (p.Phe631=)
n.2139C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174855G>ACA132233MYO7Ac.2035G>A (p.Val679Ile)
c.100G>A (p.Val34Ile)
c.2002G>A (p.Val668Ile)
c.1804G>A (p.Val602Ile)
c.1777G>A (p.Val593Ile)
n.2355G>A
n.2357G>A
c.2125G>A (p.Val709Ile)
c.1894G>A (p.Val632Ile)
n.2140G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174855G>CCA381939388MYO7Ac.2035G>C (p.Val679Leu)
c.100G>C (p.Val34Leu)
c.2002G>C (p.Val668Leu)
c.1804G>C (p.Val602Leu)
c.1777G>C (p.Val593Leu)
n.2355G>C
n.2357G>C
c.2125G>C (p.Val709Leu)
c.1894G>C (p.Val632Leu)
n.2140G>C
11g.77174855G=CA1984113898MYO7Ac.2035G= (p.Val679=)
c.100G= (p.Val34=)
c.2002G= (p.Val668=)
c.1804G= (p.Val602=)
c.1777G= (p.Val593=)
n.2355G=
n.2357G=
c.2125G= (p.Val709=)
c.1894G= (p.Val632=)
n.2140G=
11g.77174855G>TCA381939390MYO7Ac.2035G>T (p.Val679Leu)
c.100G>T (p.Val34Leu)
c.2002G>T (p.Val668Leu)
c.1804G>T (p.Val602Leu)
c.1777G>T (p.Val593Leu)
n.2355G>T
n.2357G>T
c.2125G>T (p.Val709Leu)
c.1894G>T (p.Val632Leu)
n.2140G>T
11g.77174855dupCA600710634MYO7Ac.2035dup (p.Val679GlyfsTer?)
c.100dup (p.Val34GlyfsTer?)
c.2002dup (p.Val668GlyfsTer?)
c.1804dup (p.Val602GlyfsTer?)
c.1777dup (p.Val593GlyfsTer?)
n.2355dup
n.2357dup
c.2125dup (p.Val709GlyfsTer?)
c.1894dup (p.Val632GlyfsTer?)
n.2140dup
 ClinVar dbSNP gnomAD v2
11g.77174856T>ACA381939391MYO7Ac.2036T>A (p.Val679Glu)
c.101T>A (p.Val34Glu)
c.2003T>A (p.Val668Glu)
c.1805T>A (p.Val602Glu)
c.1778T>A (p.Val593Glu)
n.2356T>A
n.2358T>A
c.2126T>A (p.Val709Glu)
c.1895T>A (p.Val632Glu)
n.2141T>A
11g.77174856T>CCA6197672MYO7Ac.2036T>C (p.Val679Ala)
c.101T>C (p.Val34Ala)
c.2003T>C (p.Val668Ala)
c.1805T>C (p.Val602Ala)
c.1778T>C (p.Val593Ala)
n.2356T>C
n.2358T>C
c.2126T>C (p.Val709Ala)
c.1895T>C (p.Val632Ala)
n.2141T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174856T>GCA381939393MYO7Ac.2036T>G (p.Val679Gly)
c.101T>G (p.Val34Gly)
c.2003T>G (p.Val668Gly)
c.1805T>G (p.Val602Gly)
c.1778T>G (p.Val593Gly)
n.2356T>G
n.2358T>G
c.2126T>G (p.Val709Gly)
c.1895T>G (p.Val632Gly)
n.2141T>G
11g.77174856T=CA1984113902MYO7Ac.2036T= (p.Val679=)
c.101T= (p.Val34=)
c.2003T= (p.Val668=)
c.1805T= (p.Val602=)
c.1778T= (p.Val593=)
n.2356T=
n.2358T=
c.2126T= (p.Val709=)
c.1895T= (p.Val632=)
n.2141T=
11g.77174856dupCA2695215036MYO7Ac.2036dup (p.Glu680ArgfsTer?)
c.101dup (p.Glu35ArgfsTer?)
c.2003dup (p.Glu669ArgfsTer?)
c.1805dup (p.Glu603ArgfsTer?)
c.1778dup (p.Glu594ArgfsTer?)
n.2356dup
n.2358dup
c.2126dup (p.Glu710ArgfsTer?)
c.1895dup (p.Glu633ArgfsTer?)
n.2141dup
11g.77174857A>CCA475794589MYO7Ac.2037A>C (p.Val679=)
c.102A>C (p.Val34=)
c.2004A>C (p.Val668=)
c.1806A>C (p.Val602=)
c.1779A>C (p.Val593=)
n.2357A>C
n.2359A>C
c.2127A>C (p.Val709=)
c.1896A>C (p.Val632=)
n.2142A>C
11g.77174857A>GCA475794590MYO7Ac.2037A>G (p.Val679=)
c.102A>G (p.Val34=)
c.2004A>G (p.Val668=)
c.1806A>G (p.Val602=)
c.1779A>G (p.Val593=)
n.2357A>G
n.2359A>G
c.2127A>G (p.Val709=)
c.1896A>G (p.Val632=)
n.2142A>G
11g.77174857A>TCA475794591MYO7Ac.2037A>T (p.Val679=)
c.102A>T (p.Val34=)
c.2004A>T (p.Val668=)
c.1806A>T (p.Val602=)
c.1779A>T (p.Val593=)
n.2357A>T
n.2359A>T
c.2127A>T (p.Val709=)
c.1896A>T (p.Val632=)
n.2142A>T
11g.77174858G>ACA381939396MYO7Ac.2038G>A (p.Glu680Lys)
c.103G>A (p.Glu35Lys)
c.2005G>A (p.Glu669Lys)
c.1807G>A (p.Glu603Lys)
c.1780G>A (p.Glu594Lys)
n.2358G>A
n.2360G>A
c.2128G>A (p.Glu710Lys)
c.1897G>A (p.Glu633Lys)
n.2143G>A
11g.77174858G>CCA381939399MYO7Ac.2038G>C (p.Glu680Gln)
c.103G>C (p.Glu35Gln)
c.2005G>C (p.Glu669Gln)
c.1807G>C (p.Glu603Gln)
c.1780G>C (p.Glu594Gln)
n.2358G>C
n.2360G>C
c.2128G>C (p.Glu710Gln)
c.1897G>C (p.Glu633Gln)
n.2143G>C
11g.77174858G>TCA381939395MYO7Ac.2038G>T (p.Glu680Ter)
c.103G>T (p.Glu35Ter)
c.2005G>T (p.Glu669Ter)
c.1807G>T (p.Glu603Ter)
c.1780G>T (p.Glu594Ter)
n.2358G>T
n.2360G>T
c.2128G>T (p.Glu710Ter)
c.1897G>T (p.Glu633Ter)
n.2143G>T
11g.77174859A=CA1984113907MYO7Ac.2039A= (p.Glu680=)
c.104A= (p.Glu35=)
c.2006A= (p.Glu669=)
c.1808A= (p.Glu603=)
c.1781A= (p.Glu594=)
n.2359A=
n.2361A=
c.2129A= (p.Glu710=)
c.1898A= (p.Glu633=)
n.2144A=
11g.77174859A>CCA381939400MYO7Ac.2039A>C (p.Glu680Ala)
c.104A>C (p.Glu35Ala)
c.2006A>C (p.Glu669Ala)
c.1808A>C (p.Glu603Ala)
c.1781A>C (p.Glu594Ala)
n.2359A>C
n.2361A>C
c.2129A>C (p.Glu710Ala)
c.1898A>C (p.Glu633Ala)
n.2144A>C
11g.77174859A>GCA381939402MYO7Ac.2039A>G (p.Glu680Gly)
c.104A>G (p.Glu35Gly)
c.2006A>G (p.Glu669Gly)
c.1808A>G (p.Glu603Gly)
c.1781A>G (p.Glu594Gly)
n.2359A>G
n.2361A>G
c.2129A>G (p.Glu710Gly)
c.1898A>G (p.Glu633Gly)
n.2144A>G
 ClinVar dbSNP
11g.77174859A>TCA381939403MYO7Ac.2039A>T (p.Glu680Val)
c.104A>T (p.Glu35Val)
c.2006A>T (p.Glu669Val)
c.1808A>T (p.Glu603Val)
c.1781A>T (p.Glu594Val)
n.2359A>T
n.2361A>T
c.2129A>T (p.Glu710Val)
c.1898A>T (p.Glu633Val)
n.2144A>T
11g.77174860G>ACA475794592MYO7Ac.2040G>A (p.Glu680=)
c.105G>A (p.Glu35=)
c.2007G>A (p.Glu669=)
c.1809G>A (p.Glu603=)
c.1782G>A (p.Glu594=)
n.2360G>A
n.2362G>A
c.2130G>A (p.Glu710=)
c.1899G>A (p.Glu633=)
n.2145G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77174860G>CCA381939404MYO7Ac.2040G>C (p.Glu680Asp)
c.105G>C (p.Glu35Asp)
c.2007G>C (p.Glu669Asp)
c.1809G>C (p.Glu603Asp)
c.1782G>C (p.Glu594Asp)
n.2360G>C
n.2362G>C
c.2130G>C (p.Glu710Asp)
c.1899G>C (p.Glu633Asp)
n.2145G>C
11g.77174860G=CA1984113914MYO7Ac.2040G= (p.Glu680=)
c.105G= (p.Glu35=)
c.2007G= (p.Glu669=)
c.1809G= (p.Glu603=)
c.1782G= (p.Glu594=)
n.2360G=
n.2362G=
c.2130G= (p.Glu710=)
c.1899G= (p.Glu633=)
n.2145G=
11g.77174860G>TCA381939405MYO7Ac.2040G>T (p.Glu680Asp)
c.105G>T (p.Glu35Asp)
c.2007G>T (p.Glu669Asp)
c.1809G>T (p.Glu603Asp)
c.1782G>T (p.Glu594Asp)
n.2360G>T
n.2362G>T
c.2130G>T (p.Glu710Asp)
c.1899G>T (p.Glu633Asp)
n.2145G>T
11g.77174861T>ACA381939411MYO7Ac.2041T>A (p.Phe681Ile)
c.106T>A (p.Phe36Ile)
c.2008T>A (p.Phe670Ile)
c.1810T>A (p.Phe604Ile)
c.1783T>A (p.Phe595Ile)
n.2361T>A
n.2363T>A
c.2131T>A (p.Phe711Ile)
c.1900T>A (p.Phe634Ile)
n.2146T>A
11g.77174861T>CCA381939407MYO7Ac.2041T>C (p.Phe681Leu)
c.106T>C (p.Phe36Leu)
c.2008T>C (p.Phe670Leu)
c.1810T>C (p.Phe604Leu)
c.1783T>C (p.Phe595Leu)
n.2361T>C
n.2363T>C
c.2131T>C (p.Phe711Leu)
c.1900T>C (p.Phe634Leu)
n.2146T>C
11g.77174861T>GCA381939409MYO7Ac.2041T>G (p.Phe681Val)
c.106T>G (p.Phe36Val)
c.2008T>G (p.Phe670Val)
c.1810T>G (p.Phe604Val)
c.1783T>G (p.Phe595Val)
n.2361T>G
n.2363T>G
c.2131T>G (p.Phe711Val)
c.1900T>G (p.Phe634Val)
n.2146T>G
 dbSNP
11g.77174861T=CA1984113921MYO7Ac.2041T= (p.Phe681=)
c.106T= (p.Phe36=)
c.2008T= (p.Phe670=)
c.1810T= (p.Phe604=)
c.1783T= (p.Phe595=)
n.2361T=
n.2363T=
c.2131T= (p.Phe711=)
c.1900T= (p.Phe634=)
n.2146T=
11g.77174862T>ACA381939412MYO7Ac.2042T>A (p.Phe681Tyr)
c.107T>A (p.Phe36Tyr)
c.2009T>A (p.Phe670Tyr)
c.1811T>A (p.Phe604Tyr)
c.1784T>A (p.Phe595Tyr)
n.2362T>A
n.2364T>A
c.2132T>A (p.Phe711Tyr)
c.1901T>A (p.Phe634Tyr)
n.2147T>A
11g.77174862T>CCA381939413MYO7Ac.2042T>C (p.Phe681Ser)
c.107T>C (p.Phe36Ser)
c.2009T>C (p.Phe670Ser)
c.1811T>C (p.Phe604Ser)
c.1784T>C (p.Phe595Ser)
n.2362T>C
n.2364T>C
c.2132T>C (p.Phe711Ser)
c.1901T>C (p.Phe634Ser)
n.2147T>C
11g.77174862T>GCA381939415MYO7Ac.2042T>G (p.Phe681Cys)
c.107T>G (p.Phe36Cys)
c.2009T>G (p.Phe670Cys)
c.1811T>G (p.Phe604Cys)
c.1784T>G (p.Phe595Cys)
n.2362T>G
n.2364T>G
c.2132T>G (p.Phe711Cys)
c.1901T>G (p.Phe634Cys)
n.2147T>G
11g.77174863T>ACA381939417MYO7Ac.2043T>A (p.Phe681Leu)
c.108T>A (p.Phe36Leu)
c.2010T>A (p.Phe670Leu)
c.1812T>A (p.Phe604Leu)
c.1785T>A (p.Phe595Leu)
n.2363T>A
n.2365T>A
c.2133T>A (p.Phe711Leu)
c.1902T>A (p.Phe634Leu)
n.2148T>A
11g.77174863T>CCA475794593MYO7Ac.2043T>C (p.Phe681=)
c.108T>C (p.Phe36=)
c.2010T>C (p.Phe670=)
c.1812T>C (p.Phe604=)
c.1785T>C (p.Phe595=)
n.2363T>C
n.2365T>C
c.2133T>C (p.Phe711=)
c.1902T>C (p.Phe634=)
n.2148T>C
11g.77174863T>GCA381939419MYO7Ac.2043T>G (p.Phe681Leu)
c.108T>G (p.Phe36Leu)
c.2010T>G (p.Phe670Leu)
c.1812T>G (p.Phe604Leu)
c.1785T>G (p.Phe595Leu)
n.2363T>G
n.2365T>G
c.2133T>G (p.Phe711Leu)
c.1902T>G (p.Phe634Leu)
n.2148T>G
11g.77174864G>ACA381939423MYO7Ac.2044G>A (p.Val682Met)
c.109G>A (p.Val37Met)
c.2011G>A (p.Val671Met)
c.1813G>A (p.Val605Met)
c.1786G>A (p.Val596Met)
n.2364G>A
n.2366G>A
c.2134G>A (p.Val712Met)
c.1903G>A (p.Val635Met)
n.2149G>A
11g.77174864G>CCA381939422MYO7Ac.2044G>C (p.Val682Leu)
c.109G>C (p.Val37Leu)
c.2011G>C (p.Val671Leu)
c.1813G>C (p.Val605Leu)
c.1786G>C (p.Val596Leu)
n.2364G>C
n.2366G>C
c.2134G>C (p.Val712Leu)
c.1903G>C (p.Val635Leu)
n.2149G>C
11g.77174864G>TCA381939420MYO7Ac.2044G>T (p.Val682Leu)
c.109G>T (p.Val37Leu)
c.2011G>T (p.Val671Leu)
c.1813G>T (p.Val605Leu)
c.1786G>T (p.Val596Leu)
n.2364G>T
n.2366G>T
c.2134G>T (p.Val712Leu)
c.1903G>T (p.Val635Leu)
n.2149G>T
11g.77174865T>ACA381939425MYO7Ac.2045T>A (p.Val682Glu)
c.110T>A (p.Val37Glu)
c.2012T>A (p.Val671Glu)
c.1814T>A (p.Val605Glu)
c.1787T>A (p.Val596Glu)
n.2365T>A
n.2367T>A
c.2135T>A (p.Val712Glu)
c.1904T>A (p.Val635Glu)
n.2150T>A
 gnomAD v4
11g.77174865T>CCA381939428MYO7Ac.2045T>C (p.Val682Ala)
c.110T>C (p.Val37Ala)
c.2012T>C (p.Val671Ala)
c.1814T>C (p.Val605Ala)
c.1787T>C (p.Val596Ala)
n.2365T>C
n.2367T>C
c.2135T>C (p.Val712Ala)
c.1904T>C (p.Val635Ala)
n.2150T>C
11g.77174865T>GCA381939426MYO7Ac.2045T>G (p.Val682Gly)
c.110T>G (p.Val37Gly)
c.2012T>G (p.Val671Gly)
c.1814T>G (p.Val605Gly)
c.1787T>G (p.Val596Gly)
n.2365T>G
n.2367T>G
c.2135T>G (p.Val712Gly)
c.1904T>G (p.Val635Gly)
n.2150T>G
 dbSNP
11g.77174865T=CA1984113924MYO7Ac.2045T= (p.Val682=)
c.110T= (p.Val37=)
c.2012T= (p.Val671=)
c.1814T= (p.Val605=)
c.1787T= (p.Val596=)
n.2365T=
n.2367T=
c.2135T= (p.Val712=)
c.1904T= (p.Val635=)
n.2150T=
11g.77174866G>ACA475794594MYO7Ac.2046G>A (p.Val682=)
c.111G>A (p.Val37=)
c.2013G>A (p.Val671=)
c.1815G>A (p.Val605=)
c.1788G>A (p.Val596=)
n.2366G>A
n.2368G>A
c.2136G>A (p.Val712=)
c.1905G>A (p.Val635=)
n.2151G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77174866G>CCA475794595MYO7Ac.2046G>C (p.Val682=)
c.111G>C (p.Val37=)
c.2013G>C (p.Val671=)
c.1815G>C (p.Val605=)
c.1788G>C (p.Val596=)
n.2366G>C
n.2368G>C
c.2136G>C (p.Val712=)
c.1905G>C (p.Val635=)
n.2151G>C
11g.77174866G=CA1984113930MYO7Ac.2046G= (p.Val682=)
c.111G= (p.Val37=)
c.2013G= (p.Val671=)
c.1815G= (p.Val605=)
c.1788G= (p.Val596=)
n.2366G=
n.2368G=
c.2136G= (p.Val712=)
c.1905G= (p.Val635=)
n.2151G=
11g.77174866G>TCA475794596MYO7Ac.2046G>T (p.Val682=)
c.111G>T (p.Val37=)
c.2013G>T (p.Val671=)
c.1815G>T (p.Val605=)
c.1788G>T (p.Val596=)
n.2366G>T
n.2368G>T
c.2136G>T (p.Val712=)
c.1905G>T (p.Val635=)
n.2151G>T
11g.77174867G>ACA381939430MYO7Ac.2047G>A (p.Glu683Lys)
c.112G>A (p.Glu38Lys)
c.2014G>A (p.Glu672Lys)
c.1816G>A (p.Glu606Lys)
c.1789G>A (p.Glu597Lys)
n.2367G>A
n.2369G>A
c.2137G>A (p.Glu713Lys)
c.1906G>A (p.Glu636Lys)
n.2152G>A
11g.77174867G>CCA381939433MYO7Ac.2047G>C (p.Glu683Gln)
c.112G>C (p.Glu38Gln)
c.2014G>C (p.Glu672Gln)
c.1816G>C (p.Glu606Gln)
c.1789G>C (p.Glu597Gln)
n.2367G>C
n.2369G>C
c.2137G>C (p.Glu713Gln)
c.1906G>C (p.Glu636Gln)
n.2152G>C
11g.77174867G>TCA381939432MYO7Ac.2047G>T (p.Glu683Ter)
c.112G>T (p.Glu38Ter)
c.2014G>T (p.Glu672Ter)
c.1816G>T (p.Glu606Ter)
c.1789G>T (p.Glu597Ter)
n.2367G>T
n.2369G>T
c.2137G>T (p.Glu713Ter)
c.1906G>T (p.Glu636Ter)
n.2152G>T
11g.77174868A=CA1984113936MYO7Ac.2048A= (p.Glu683=)
c.113A= (p.Glu38=)
c.2015A= (p.Glu672=)
c.1817A= (p.Glu606=)
c.1790A= (p.Glu597=)
n.2368A=
n.2370A=
c.2138A= (p.Glu713=)
c.1907A= (p.Glu636=)
n.2153A=
11g.77174868A>CCA381939435MYO7Ac.2048A>C (p.Glu683Ala)
c.113A>C (p.Glu38Ala)
c.2015A>C (p.Glu672Ala)
c.1817A>C (p.Glu606Ala)
c.1790A>C (p.Glu597Ala)
n.2368A>C
n.2370A>C
c.2138A>C (p.Glu713Ala)
c.1907A>C (p.Glu636Ala)
n.2153A>C
11g.77174868A>GCA381939438MYO7Ac.2048A>G (p.Glu683Gly)
c.113A>G (p.Glu38Gly)
c.2015A>G (p.Glu672Gly)
c.1817A>G (p.Glu606Gly)
c.1790A>G (p.Glu597Gly)
n.2368A>G
n.2370A>G
c.2138A>G (p.Glu713Gly)
c.1907A>G (p.Glu636Gly)
n.2153A>G
 dbSNP
11g.77174868A>TCA381939436MYO7Ac.2048A>T (p.Glu683Val)
c.113A>T (p.Glu38Val)
c.2015A>T (p.Glu672Val)
c.1817A>T (p.Glu606Val)
c.1790A>T (p.Glu597Val)
n.2368A>T
n.2370A>T
c.2138A>T (p.Glu713Val)
c.1907A>T (p.Glu636Val)
n.2153A>T
 gnomAD v4
11g.77174869G>ACA6197673MYO7Ac.2049G>A (p.Glu683=)
c.114G>A (p.Glu38=)
c.2016G>A (p.Glu672=)
c.1818G>A (p.Glu606=)
c.1791G>A (p.Glu597=)
n.2369G>A
n.2371G>A
c.2139G>A (p.Glu713=)
c.1908G>A (p.Glu636=)
n.2154G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174869G>CCA381939440MYO7Ac.2049G>C (p.Glu683Asp)
c.114G>C (p.Glu38Asp)
c.2016G>C (p.Glu672Asp)
c.1818G>C (p.Glu606Asp)
c.1791G>C (p.Glu597Asp)
n.2369G>C
n.2371G>C
c.2139G>C (p.Glu713Asp)
c.1908G>C (p.Glu636Asp)
n.2154G>C
11g.77174869G=CA1984113943MYO7Ac.2049G= (p.Glu683=)
c.114G= (p.Glu38=)
c.2016G= (p.Glu672=)
c.1818G= (p.Glu606=)
c.1791G= (p.Glu597=)
n.2369G=
n.2371G=
c.2139G= (p.Glu713=)
c.1908G= (p.Glu636=)
n.2154G=
11g.77174869G>TCA381939442MYO7Ac.2049G>T (p.Glu683Asp)
c.114G>T (p.Glu38Asp)
c.2016G>T (p.Glu672Asp)
c.1818G>T (p.Glu606Asp)
c.1791G>T (p.Glu597Asp)
n.2369G>T
n.2371G>T
c.2139G>T (p.Glu713Asp)
c.1908G>T (p.Glu636Asp)
n.2154G>T
11g.77174870C>ACA475794597MYO7Ac.2050C>A (p.Arg684=)
c.115C>A (p.Arg39=)
c.2017C>A (p.Arg673=)
c.1819C>A (p.Arg607=)
c.1792C>A (p.Arg598=)
n.2370C>A
n.2372C>A
c.2140C>A (p.Arg714=)
c.1909C>A (p.Arg637=)
n.2155C>A
 gnomAD v4
11g.77174870C=CA1984113949MYO7Ac.2050C= (p.Arg684=)
c.115C= (p.Arg39=)
c.2017C= (p.Arg673=)
c.1819C= (p.Arg607=)
c.1792C= (p.Arg598=)
n.2370C=
n.2372C=
c.2140C= (p.Arg714=)
c.1909C= (p.Arg637=)
n.2155C=
11g.77174870C>GCA381939444MYO7Ac.2050C>G (p.Arg684Gly)
c.115C>G (p.Arg39Gly)
c.2017C>G (p.Arg673Gly)
c.1819C>G (p.Arg607Gly)
c.1792C>G (p.Arg598Gly)
n.2370C>G
n.2372C>G
c.2140C>G (p.Arg714Gly)
c.1909C>G (p.Arg637Gly)
n.2155C>G
11g.77174870C>TCA6197674MYO7Ac.2050C>T (p.Arg684Trp)
c.115C>T (p.Arg39Trp)
c.2017C>T (p.Arg673Trp)
c.1819C>T (p.Arg607Trp)
c.1792C>T (p.Arg598Trp)
n.2370C>T
n.2372C>T
c.2140C>T (p.Arg714Trp)
c.1909C>T (p.Arg637Trp)
n.2155C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174871G>ACA6197675MYO7Ac.2051G>A (p.Arg684Gln)
c.116G>A (p.Arg39Gln)
c.2018G>A (p.Arg673Gln)
c.1820G>A (p.Arg607Gln)
c.1793G>A (p.Arg598Gln)
n.2371G>A
n.2373G>A
c.2141G>A (p.Arg714Gln)
c.1910G>A (p.Arg637Gln)
n.2156G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174871G>CCA381939447MYO7Ac.2051G>C (p.Arg684Pro)
c.116G>C (p.Arg39Pro)
c.2018G>C (p.Arg673Pro)
c.1820G>C (p.Arg607Pro)
c.1793G>C (p.Arg598Pro)
n.2371G>C
n.2373G>C
c.2141G>C (p.Arg714Pro)
c.1910G>C (p.Arg637Pro)
n.2156G>C
 gnomAD v4
11g.77174871G=CA1984113954MYO7Ac.2051G= (p.Arg684=)
c.116G= (p.Arg39=)
c.2018G= (p.Arg673=)
c.1820G= (p.Arg607=)
c.1793G= (p.Arg598=)
n.2371G=
n.2373G=
c.2141G= (p.Arg714=)
c.1910G= (p.Arg637=)
n.2156G=
11g.77174871G>TCA381939448MYO7Ac.2051G>T (p.Arg684Leu)
c.116G>T (p.Arg39Leu)
c.2018G>T (p.Arg673Leu)
c.1820G>T (p.Arg607Leu)
c.1793G>T (p.Arg598Leu)
n.2371G>T
n.2373G>T
c.2141G>T (p.Arg714Leu)
c.1910G>T (p.Arg637Leu)
n.2156G>T
11g.77174872G>ACA475794598MYO7Ac.2052G>A (p.Arg684=)
c.117G>A (p.Arg39=)
c.2019G>A (p.Arg673=)
c.1821G>A (p.Arg607=)
c.1794G>A (p.Arg598=)
n.2372G>A
n.2374G>A
c.2142G>A (p.Arg714=)
c.1911G>A (p.Arg637=)
n.2157G>A
 ClinVar gnomAD v4
11g.77174872G>CCA475794599MYO7Ac.2052G>C (p.Arg684=)
c.117G>C (p.Arg39=)
c.2019G>C (p.Arg673=)
c.1821G>C (p.Arg607=)
c.1794G>C (p.Arg598=)
n.2372G>C
n.2374G>C
c.2142G>C (p.Arg714=)
c.1911G>C (p.Arg637=)
n.2157G>C
11g.77174872G>TCA475794600MYO7Ac.2052G>T (p.Arg684=)
c.117G>T (p.Arg39=)
c.2019G>T (p.Arg673=)
c.1821G>T (p.Arg607=)
c.1794G>T (p.Arg598=)
n.2372G>T
n.2374G>T
c.2142G>T (p.Arg714=)
c.1911G>T (p.Arg637=)
n.2157G>T
11g.77174873T>ACA381939449MYO7Ac.2053T>A (p.Tyr685Asn)
c.118T>A (p.Tyr40Asn)
c.2020T>A (p.Tyr674Asn)
c.1822T>A (p.Tyr608Asn)
c.1795T>A (p.Tyr599Asn)
n.2373T>A
n.2375T>A
c.2143T>A (p.Tyr715Asn)
c.1912T>A (p.Tyr638Asn)
n.2158T>A
11g.77174873T>CCA381939450MYO7Ac.2053T>C (p.Tyr685His)
c.118T>C (p.Tyr40His)
c.2020T>C (p.Tyr674His)
c.1822T>C (p.Tyr608His)
c.1795T>C (p.Tyr599His)
n.2373T>C
n.2375T>C
c.2143T>C (p.Tyr715His)
c.1912T>C (p.Tyr638His)
n.2158T>C
11g.77174873T>GCA381939452MYO7Ac.2053T>G (p.Tyr685Asp)
c.118T>G (p.Tyr40Asp)
c.2020T>G (p.Tyr674Asp)
c.1822T>G (p.Tyr608Asp)
c.1795T>G (p.Tyr599Asp)
n.2373T>G
n.2375T>G
c.2143T>G (p.Tyr715Asp)
c.1912T>G (p.Tyr638Asp)
n.2158T>G
 gnomAD v4
11g.77174874A>CCA381939454MYO7Ac.2054A>C (p.Tyr685Ser)
c.119A>C (p.Tyr40Ser)
c.2021A>C (p.Tyr674Ser)
c.1823A>C (p.Tyr608Ser)
c.1796A>C (p.Tyr599Ser)
n.2374A>C
n.2376A>C
c.2144A>C (p.Tyr715Ser)
c.1913A>C (p.Tyr638Ser)
n.2159A>C
 gnomAD v4
11g.77174874A>GCA381939455MYO7Ac.2054A>G (p.Tyr685Cys)
c.119A>G (p.Tyr40Cys)
c.2021A>G (p.Tyr674Cys)
c.1823A>G (p.Tyr608Cys)
c.1796A>G (p.Tyr599Cys)
n.2374A>G
n.2376A>G
c.2144A>G (p.Tyr715Cys)
c.1913A>G (p.Tyr638Cys)
n.2159A>G
11g.77174874A>TCA381939457MYO7Ac.2054A>T (p.Tyr685Phe)
c.119A>T (p.Tyr40Phe)
c.2021A>T (p.Tyr674Phe)
c.1823A>T (p.Tyr608Phe)
c.1796A>T (p.Tyr599Phe)
n.2374A>T
n.2376A>T
c.2144A>T (p.Tyr715Phe)
c.1913A>T (p.Tyr638Phe)
n.2159A>T
11g.77174875C>ACA381939458MYO7Ac.2055C>A (p.Tyr685Ter)
c.120C>A (p.Tyr40Ter)
c.2022C>A (p.Tyr674Ter)
c.1824C>A (p.Tyr608Ter)
c.1797C>A (p.Tyr599Ter)
n.2375C>A
n.2377C>A
c.2145C>A (p.Tyr715Ter)
c.1914C>A (p.Tyr638Ter)
n.2160C>A
11g.77174875C>GCA381939459MYO7Ac.2055C>G (p.Tyr685Ter)
c.120C>G (p.Tyr40Ter)
c.2022C>G (p.Tyr674Ter)
c.1824C>G (p.Tyr608Ter)
c.1797C>G (p.Tyr599Ter)
n.2375C>G
n.2377C>G
c.2145C>G (p.Tyr715Ter)
c.1914C>G (p.Tyr638Ter)
n.2160C>G
11g.77174875C>TCA475794601MYO7Ac.2055C>T (p.Tyr685=)
c.120C>T (p.Tyr40=)
c.2022C>T (p.Tyr674=)
c.1824C>T (p.Tyr608=)
c.1797C>T (p.Tyr599=)
n.2375C>T
n.2377C>T
c.2145C>T (p.Tyr715=)
c.1914C>T (p.Tyr638=)
n.2160C>T
11g.77174876C>ACA381939461MYO7Ac.2056C>A (p.Arg686Ser)
c.121C>A (p.Arg41Ser)
c.2023C>A (p.Arg675Ser)
c.1825C>A (p.Arg609Ser)
c.1798C>A (p.Arg600Ser)
n.2376C>A
n.2378C>A
c.2146C>A (p.Arg716Ser)
c.1915C>A (p.Arg639Ser)
n.2161C>A
11g.77174876C=CA1984113962MYO7Ac.2056C= (p.Arg686=)
c.121C= (p.Arg41=)
c.2023C= (p.Arg675=)
c.1825C= (p.Arg609=)
c.1798C= (p.Arg600=)
n.2376C=
n.2378C=
c.2146C= (p.Arg716=)
c.1915C= (p.Arg639=)
n.2161C=
11g.77174876C>GCA381939463MYO7Ac.2056C>G (p.Arg686Gly)
c.121C>G (p.Arg41Gly)
c.2023C>G (p.Arg675Gly)
c.1825C>G (p.Arg609Gly)
c.1798C>G (p.Arg600Gly)
n.2376C>G
n.2378C>G
c.2146C>G (p.Arg716Gly)
c.1915C>G (p.Arg639Gly)
n.2161C>G
11g.77174876C>TCA6197676MYO7Ac.2056C>T (p.Arg686Cys)
c.121C>T (p.Arg41Cys)
c.2023C>T (p.Arg675Cys)
c.1825C>T (p.Arg609Cys)
c.1798C>T (p.Arg600Cys)
n.2376C>T
n.2378C>T
c.2146C>T (p.Arg716Cys)
c.1915C>T (p.Arg639Cys)
n.2161C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174877G>ACA6197677MYO7Ac.2057G>A (p.Arg686His)
c.122G>A (p.Arg41His)
c.2024G>A (p.Arg675His)
c.1826G>A (p.Arg609His)
c.1799G>A (p.Arg600His)
n.2377G>A
n.2379G>A
c.2147G>A (p.Arg716His)
c.1916G>A (p.Arg639His)
n.2162G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174877G>CCA381939464MYO7Ac.2057G>C (p.Arg686Pro)
c.122G>C (p.Arg41Pro)
c.2024G>C (p.Arg675Pro)
c.1826G>C (p.Arg609Pro)
c.1799G>C (p.Arg600Pro)
n.2377G>C
n.2379G>C
c.2147G>C (p.Arg716Pro)
c.1916G>C (p.Arg639Pro)
n.2162G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77174877G=CA1984113973MYO7Ac.2057G= (p.Arg686=)
c.122G= (p.Arg41=)
c.2024G= (p.Arg675=)
c.1826G= (p.Arg609=)
c.1799G= (p.Arg600=)
n.2377G=
n.2379G=
c.2147G= (p.Arg716=)
c.1916G= (p.Arg639=)
n.2162G=
11g.77174877G>TCA381939466MYO7Ac.2057G>T (p.Arg686Leu)
c.122G>T (p.Arg41Leu)
c.2024G>T (p.Arg675Leu)
c.1826G>T (p.Arg609Leu)
c.1799G>T (p.Arg600Leu)
n.2377G>T
n.2379G>T
c.2147G>T (p.Arg716Leu)
c.1916G>T (p.Arg639Leu)
n.2162G>T
11g.77174878T>ACA475794602MYO7Ac.2058T>A (p.Arg686=)
c.123T>A (p.Arg41=)
c.2025T>A (p.Arg675=)
c.1827T>A (p.Arg609=)
c.1800T>A (p.Arg600=)
n.2378T>A
n.2380T>A
c.2148T>A (p.Arg716=)
c.1917T>A (p.Arg639=)
n.2163T>A
11g.77174878T>CCA475794603MYO7Ac.2058T>C (p.Arg686=)
c.123T>C (p.Arg41=)
c.2025T>C (p.Arg675=)
c.1827T>C (p.Arg609=)
c.1800T>C (p.Arg600=)
n.2378T>C
n.2380T>C
c.2148T>C (p.Arg716=)
c.1917T>C (p.Arg639=)
n.2163T>C
11g.77174878T>GCA475794604MYO7Ac.2058T>G (p.Arg686=)
c.123T>G (p.Arg41=)
c.2025T>G (p.Arg675=)
c.1827T>G (p.Arg609=)
c.1800T>G (p.Arg600=)
n.2378T>G
n.2380T>G
c.2148T>G (p.Arg716=)
c.1917T>G (p.Arg639=)
n.2163T>G
 dbSNP
11g.77174878T=CA1984113980MYO7Ac.2058T= (p.Arg686=)
c.123T= (p.Arg41=)
c.2025T= (p.Arg675=)
c.1827T= (p.Arg609=)
c.1800T= (p.Arg600=)
n.2378T=
n.2380T=
c.2148T= (p.Arg716=)
c.1917T= (p.Arg639=)
n.2163T=
11g.77174879G>ACA381939467MYO7Ac.2059G>A (p.Val687Met)
c.124G>A (p.Val42Met)
c.2026G>A (p.Val676Met)
c.1828G>A (p.Val610Met)
c.1801G>A (p.Val601Met)
n.2379G>A
n.2381G>A
c.2149G>A (p.Val717Met)
c.1918G>A (p.Val640Met)
n.2164G>A
 gnomAD v4
11g.77174879G>CCA381939469MYO7Ac.2059G>C (p.Val687Leu)
c.124G>C (p.Val42Leu)
c.2026G>C (p.Val676Leu)
c.1828G>C (p.Val610Leu)
c.1801G>C (p.Val601Leu)
n.2379G>C
n.2381G>C
c.2149G>C (p.Val717Leu)
c.1918G>C (p.Val640Leu)
n.2164G>C
11g.77174879G>TCA381939470MYO7Ac.2059G>T (p.Val687Leu)
c.124G>T (p.Val42Leu)
c.2026G>T (p.Val676Leu)
c.1828G>T (p.Val610Leu)
c.1801G>T (p.Val601Leu)
n.2379G>T
n.2381G>T
c.2149G>T (p.Val717Leu)
c.1918G>T (p.Val640Leu)
n.2164G>T
11g.77174880T>ACA381939471MYO7Ac.2060T>A (p.Val687Glu)
c.125T>A (p.Val42Glu)
c.2027T>A (p.Val676Glu)
c.1829T>A (p.Val610Glu)
c.1802T>A (p.Val601Glu)
n.2380T>A
n.2382T>A
c.2150T>A (p.Val717Glu)
c.1919T>A (p.Val640Glu)
n.2165T>A
11g.77174880T>CCA381939472MYO7Ac.2060T>C (p.Val687Ala)
c.125T>C (p.Val42Ala)
c.2027T>C (p.Val676Ala)
c.1829T>C (p.Val610Ala)
c.1802T>C (p.Val601Ala)
n.2380T>C
n.2382T>C
c.2150T>C (p.Val717Ala)
c.1919T>C (p.Val640Ala)
n.2165T>C
 gnomAD v4
11g.77174880T>GCA381939473MYO7Ac.2060T>G (p.Val687Gly)
c.125T>G (p.Val42Gly)
c.2027T>G (p.Val676Gly)
c.1829T>G (p.Val610Gly)
c.1802T>G (p.Val601Gly)
n.2380T>G
n.2382T>G
c.2150T>G (p.Val717Gly)
c.1919T>G (p.Val640Gly)
n.2165T>G
11g.77174886_77174888dupCA2792769266MYO7Ac.2066_2068dup (p.Leu689_Pro690insLeu)
c.131_133dup (p.Leu44_Pro45insLeu)
c.2033_2035dup (p.Leu678_Pro679insLeu)
c.1835_1837dup (p.Leu612_Pro613insLeu)
c.1808_1810dup (p.Leu603_Pro604insLeu)
n.2386_2388dup
n.2388_2390dup
c.2156_2158dup (p.Leu719_Pro720insLeu)
c.1925_1927dup (p.Leu642_Pro643insLeu)
n.2171_2173dup
11g.77174881G>ACA475794605MYO7Ac.2061G>A (p.Val687=)
c.126G>A (p.Val42=)
c.2028G>A (p.Val676=)
c.1830G>A (p.Val610=)
c.1803G>A (p.Val601=)
n.2381G>A
n.2383G>A
c.2151G>A (p.Val717=)
c.1920G>A (p.Val640=)
n.2166G>A
 gnomAD v4
11g.77174881G>CCA475794606MYO7Ac.2061G>C (p.Val687=)
c.126G>C (p.Val42=)
c.2028G>C (p.Val676=)
c.1830G>C (p.Val610=)
c.1803G>C (p.Val601=)
n.2381G>C
n.2383G>C
c.2151G>C (p.Val717=)
c.1920G>C (p.Val640=)
n.2166G>C
11g.77174881G>TCA475794607MYO7Ac.2061G>T (p.Val687=)
c.126G>T (p.Val42=)
c.2028G>T (p.Val676=)
c.1830G>T (p.Val610=)
c.1803G>T (p.Val601=)
n.2381G>T
n.2383G>T
c.2151G>T (p.Val717=)
c.1920G>T (p.Val640=)
n.2166G>T
11g.77174882C>ACA381939475MYO7Ac.2062C>A (p.Leu688Met)
c.127C>A (p.Leu43Met)
c.2029C>A (p.Leu677Met)
c.1831C>A (p.Leu611Met)
c.1804C>A (p.Leu602Met)
n.2382C>A
n.2384C>A
c.2152C>A (p.Leu718Met)
c.1921C>A (p.Leu641Met)
n.2167C>A
11g.77174882C>GCA381939477MYO7Ac.2062C>G (p.Leu688Val)
c.127C>G (p.Leu43Val)
c.2029C>G (p.Leu677Val)
c.1831C>G (p.Leu611Val)
c.1804C>G (p.Leu602Val)
n.2382C>G
n.2384C>G
c.2152C>G (p.Leu718Val)
c.1921C>G (p.Leu641Val)
n.2167C>G
11g.77174882C>TCA475794608MYO7Ac.2062C>T (p.Leu688=)
c.127C>T (p.Leu43=)
c.2029C>T (p.Leu677=)
c.1831C>T (p.Leu611=)
c.1804C>T (p.Leu602=)
n.2382C>T
n.2384C>T
c.2152C>T (p.Leu718=)
c.1921C>T (p.Leu641=)
n.2167C>T
 gnomAD v4
11g.77174883T>ACA381939478MYO7Ac.2063T>A (p.Leu688Gln)
c.128T>A (p.Leu43Gln)
c.2030T>A (p.Leu677Gln)
c.1832T>A (p.Leu611Gln)
c.1805T>A (p.Leu602Gln)
n.2383T>A
n.2385T>A
c.2153T>A (p.Leu718Gln)
c.1922T>A (p.Leu641Gln)
n.2168T>A
11g.77174883T>CCA6197678MYO7Ac.2063T>C (p.Leu688Pro)
c.128T>C (p.Leu43Pro)
c.2030T>C (p.Leu677Pro)
c.1832T>C (p.Leu611Pro)
c.1805T>C (p.Leu602Pro)
n.2383T>C
n.2385T>C
c.2153T>C (p.Leu718Pro)
c.1922T>C (p.Leu641Pro)
n.2168T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174883T>GCA381939480MYO7Ac.2063T>G (p.Leu688Arg)
c.128T>G (p.Leu43Arg)
c.2030T>G (p.Leu677Arg)
c.1832T>G (p.Leu611Arg)
c.1805T>G (p.Leu602Arg)
n.2383T>G
n.2385T>G
c.2153T>G (p.Leu718Arg)
c.1922T>G (p.Leu641Arg)
n.2168T>G
11g.77174883T=CA1984113983MYO7Ac.2063T= (p.Leu688=)
c.128T= (p.Leu43=)
c.2030T= (p.Leu677=)
c.1832T= (p.Leu611=)
c.1805T= (p.Leu602=)
n.2383T=
n.2385T=
c.2153T= (p.Leu718=)
c.1922T= (p.Leu641=)
n.2168T=
11g.77174884G>ACA475794609MYO7Ac.2064G>A (p.Leu688=)
c.129G>A (p.Leu43=)
c.2031G>A (p.Leu677=)
c.1833G>A (p.Leu611=)
c.1806G>A (p.Leu602=)
n.2384G>A
n.2386G>A
c.2154G>A (p.Leu718=)
c.1923G>A (p.Leu641=)
n.2169G>A
 dbSNP
11g.77174884G>CCA475794610MYO7Ac.2064G>C (p.Leu688=)
c.129G>C (p.Leu43=)
c.2031G>C (p.Leu677=)
c.1833G>C (p.Leu611=)
c.1806G>C (p.Leu602=)
n.2384G>C
n.2386G>C
c.2154G>C (p.Leu718=)
c.1923G>C (p.Leu641=)
n.2169G>C
11g.77174884G=CA1984113986MYO7Ac.2064G= (p.Leu688=)
c.129G= (p.Leu43=)
c.2031G= (p.Leu677=)
c.1833G= (p.Leu611=)
c.1806G= (p.Leu602=)
n.2384G=
n.2386G=
c.2154G= (p.Leu718=)
c.1923G= (p.Leu641=)
n.2169G=
11g.77174884G>TCA475794611MYO7Ac.2064G>T (p.Leu688=)
c.129G>T (p.Leu43=)
c.2031G>T (p.Leu677=)
c.1833G>T (p.Leu611=)
c.1806G>T (p.Leu602=)
n.2384G>T
n.2386G>T
c.2154G>T (p.Leu718=)
c.1923G>T (p.Leu641=)
n.2169G>T
11g.77174885C>ACA381939481MYO7Ac.2065C>A (p.Leu689Met)
c.130C>A (p.Leu44Met)
c.2032C>A (p.Leu678Met)
c.1834C>A (p.Leu612Met)
c.1807C>A (p.Leu603Met)
n.2385C>A
n.2387C>A
c.2155C>A (p.Leu719Met)
c.1924C>A (p.Leu642Met)
n.2170C>A
11g.77174885C>GCA381939483MYO7Ac.2065C>G (p.Leu689Val)
c.130C>G (p.Leu44Val)
c.2032C>G (p.Leu678Val)
c.1834C>G (p.Leu612Val)
c.1807C>G (p.Leu603Val)
n.2385C>G
n.2387C>G
c.2155C>G (p.Leu719Val)
c.1924C>G (p.Leu642Val)
n.2170C>G
11g.77174885C>TCA475794612MYO7Ac.2065C>T (p.Leu689=)
c.130C>T (p.Leu44=)
c.2032C>T (p.Leu678=)
c.1834C>T (p.Leu612=)
c.1807C>T (p.Leu603=)
n.2385C>T
n.2387C>T
c.2155C>T (p.Leu719=)
c.1924C>T (p.Leu642=)
n.2170C>T
11g.77174886T>ACA381939485MYO7Ac.2066T>A (p.Leu689Gln)
c.131T>A (p.Leu44Gln)
c.2033T>A (p.Leu678Gln)
c.1835T>A (p.Leu612Gln)
c.1808T>A (p.Leu603Gln)
n.2386T>A
n.2388T>A
c.2156T>A (p.Leu719Gln)
c.1925T>A (p.Leu642Gln)
n.2171T>A
11g.77174886T>CCA381939486MYO7Ac.2066T>C (p.Leu689Pro)
c.131T>C (p.Leu44Pro)
c.2033T>C (p.Leu678Pro)
c.1835T>C (p.Leu612Pro)
c.1808T>C (p.Leu603Pro)
n.2386T>C
n.2388T>C
c.2156T>C (p.Leu719Pro)
c.1925T>C (p.Leu642Pro)
n.2171T>C
11g.77174886T>GCA381939487MYO7Ac.2066T>G (p.Leu689Arg)
c.131T>G (p.Leu44Arg)
c.2033T>G (p.Leu678Arg)
c.1835T>G (p.Leu612Arg)
c.1808T>G (p.Leu603Arg)
n.2386T>G
n.2388T>G
c.2156T>G (p.Leu719Arg)
c.1925T>G (p.Leu642Arg)
n.2171T>G
11g.77174887G>ACA475794613MYO7Ac.2067G>A (p.Leu689=)
c.132G>A (p.Leu44=)
c.2034G>A (p.Leu678=)
c.1836G>A (p.Leu612=)
c.1809G>A (p.Leu603=)
n.2387G>A
n.2389G>A
c.2157G>A (p.Leu719=)
c.1926G>A (p.Leu642=)
n.2172G>A
11g.77174887G>CCA475794614MYO7Ac.2067G>C (p.Leu689=)
c.132G>C (p.Leu44=)
c.2034G>C (p.Leu678=)
c.1836G>C (p.Leu612=)
c.1809G>C (p.Leu603=)
n.2387G>C
n.2389G>C
c.2157G>C (p.Leu719=)
c.1926G>C (p.Leu642=)
n.2172G>C
11g.77174887G>TCA475794615MYO7Ac.2067G>T (p.Leu689=)
c.132G>T (p.Leu44=)
c.2034G>T (p.Leu678=)
c.1836G>T (p.Leu612=)
c.1809G>T (p.Leu603=)
n.2387G>T
n.2389G>T
c.2157G>T (p.Leu719=)
c.1926G>T (p.Leu642=)
n.2172G>T
11g.77174888C>ACA381939489MYO7Ac.2068C>A (p.Pro690Thr)
c.133C>A (p.Pro45Thr)
c.2035C>A (p.Pro679Thr)
c.1837C>A (p.Pro613Thr)
c.1810C>A (p.Pro604Thr)
n.2388C>A
n.2390C>A
c.2158C>A (p.Pro720Thr)
c.1927C>A (p.Pro643Thr)
n.2173C>A
11g.77174888C>GCA381939491MYO7Ac.2068C>G (p.Pro690Ala)
c.133C>G (p.Pro45Ala)
c.2035C>G (p.Pro679Ala)
c.1837C>G (p.Pro613Ala)
c.1810C>G (p.Pro604Ala)
n.2388C>G
n.2390C>G
c.2158C>G (p.Pro720Ala)
c.1927C>G (p.Pro643Ala)
n.2173C>G
11g.77174888C>TCA381939493MYO7Ac.2068C>T (p.Pro690Ser)
c.133C>T (p.Pro45Ser)
c.2035C>T (p.Pro679Ser)
c.1837C>T (p.Pro613Ser)
c.1810C>T (p.Pro604Ser)
n.2388C>T
n.2390C>T
c.2158C>T (p.Pro720Ser)
c.1927C>T (p.Pro643Ser)
n.2173C>T
11g.77174889C>ACA381939495MYO7Ac.2069C>A (p.Pro690Gln)
c.134C>A (p.Pro45Gln)
c.2036C>A (p.Pro679Gln)
c.1838C>A (p.Pro613Gln)
c.1811C>A (p.Pro604Gln)
n.2389C>A
n.2391C>A
c.2159C>A (p.Pro720Gln)
c.1928C>A (p.Pro643Gln)
n.2174C>A
11g.77174889C>GCA381939496MYO7Ac.2069C>G (p.Pro690Arg)
c.134C>G (p.Pro45Arg)
c.2036C>G (p.Pro679Arg)
c.1838C>G (p.Pro613Arg)
c.1811C>G (p.Pro604Arg)
n.2389C>G
n.2391C>G
c.2159C>G (p.Pro720Arg)
c.1928C>G (p.Pro643Arg)
n.2174C>G
11g.77174889C>TCA381939498MYO7Ac.2069C>T (p.Pro690Leu)
c.134C>T (p.Pro45Leu)
c.2036C>T (p.Pro679Leu)
c.1838C>T (p.Pro613Leu)
c.1811C>T (p.Pro604Leu)
n.2389C>T
n.2391C>T
c.2159C>T (p.Pro720Leu)
c.1928C>T (p.Pro643Leu)
n.2174C>T
11g.77174890A>CCA475794617MYO7Ac.2070A>C (p.Pro690=)
c.135A>C (p.Pro45=)
c.2037A>C (p.Pro679=)
c.1839A>C (p.Pro613=)
c.1812A>C (p.Pro604=)
n.2390A>C
n.2392A>C
c.2160A>C (p.Pro720=)
c.1929A>C (p.Pro643=)
n.2175A>C
11g.77174890A>GCA475794618MYO7Ac.2070A>G (p.Pro690=)
c.135A>G (p.Pro45=)
c.2037A>G (p.Pro679=)
c.1839A>G (p.Pro613=)
c.1812A>G (p.Pro604=)
n.2390A>G
n.2392A>G
c.2160A>G (p.Pro720=)
c.1929A>G (p.Pro643=)
n.2175A>G
11g.77174890A>TCA475794616MYO7Ac.2070A>T (p.Pro690=)
c.135A>T (p.Pro45=)
c.2037A>T (p.Pro679=)
c.1839A>T (p.Pro613=)
c.1812A>T (p.Pro604=)
n.2390A>T
n.2392A>T
c.2160A>T (p.Pro720=)
c.1929A>T (p.Pro643=)
n.2175A>T
 ClinVar
11g.77174890dupCA2697548837MYO7Ac.2070dup (p.Gly691ArgfsTer20)
c.135dup (p.Gly46ArgfsTer20)
c.2037dup (p.Gly680ArgfsTer20)
c.1839dup (p.Gly614ArgfsTer20)
c.1812dup (p.Gly605ArgfsTer20)
n.2390dup
n.2392dup
c.2160dup (p.Gly721ArgfsTer20)
c.1929dup (p.Gly644ArgfsTer20)
n.2175dup
 ClinVar
11g.77174891G>ACA381939503MYO7Ac.2071G>A (p.Gly691Ser)
c.136G>A (p.Gly46Ser)
c.2038G>A (p.Gly680Ser)
c.1840G>A (p.Gly614Ser)
c.1813G>A (p.Gly605Ser)
n.2391G>A
n.2393G>A
c.2161G>A (p.Gly721Ser)
c.1930G>A (p.Gly644Ser)
n.2176G>A
11g.77174891G>CCA381939501MYO7Ac.2071G>C (p.Gly691Arg)
c.136G>C (p.Gly46Arg)
c.2038G>C (p.Gly680Arg)
c.1840G>C (p.Gly614Arg)
c.1813G>C (p.Gly605Arg)
n.2391G>C
n.2393G>C
c.2161G>C (p.Gly721Arg)
c.1930G>C (p.Gly644Arg)
n.2176G>C
11g.77174891G>TCA381939499MYO7Ac.2071G>T (p.Gly691Cys)
c.136G>T (p.Gly46Cys)
c.2038G>T (p.Gly680Cys)
c.1840G>T (p.Gly614Cys)
c.1813G>T (p.Gly605Cys)
n.2391G>T
n.2393G>T
c.2161G>T (p.Gly721Cys)
c.1930G>T (p.Gly644Cys)
n.2176G>T
11g.77174892G>ACA381939505MYO7Ac.2072G>A (p.Gly691Asp)
c.137G>A (p.Gly46Asp)
c.2039G>A (p.Gly680Asp)
c.1841G>A (p.Gly614Asp)
c.1814G>A (p.Gly605Asp)
n.2392G>A
n.2394G>A
c.2162G>A (p.Gly721Asp)
c.1931G>A (p.Gly644Asp)
n.2177G>A
11g.77174892G>CCA381939507MYO7Ac.2072G>C (p.Gly691Ala)
c.137G>C (p.Gly46Ala)
c.2039G>C (p.Gly680Ala)
c.1841G>C (p.Gly614Ala)
c.1814G>C (p.Gly605Ala)
n.2392G>C
n.2394G>C
c.2162G>C (p.Gly721Ala)
c.1931G>C (p.Gly644Ala)
n.2177G>C
11g.77174892G>TCA381939508MYO7Ac.2072G>T (p.Gly691Val)
c.137G>T (p.Gly46Val)
c.2039G>T (p.Gly680Val)
c.1841G>T (p.Gly614Val)
c.1814G>T (p.Gly605Val)
n.2392G>T
n.2394G>T
c.2162G>T (p.Gly721Val)
c.1931G>T (p.Gly644Val)
n.2177G>T
11g.77174895_77174896delCA2739270694MYO7Ac.2075_2076del (p.Val692GlufsTer18)
c.140_141del (p.Val47GlufsTer18)
c.2042_2043del (p.Val681GlufsTer18)
c.1844_1845del (p.Val615GlufsTer18)
c.1817_1818del (p.Val606GlufsTer18)
n.2395_2396del
n.2397_2398del
c.2165_2166del (p.Val722GlufsTer18)
c.1934_1935del (p.Val645GlufsTer18)
n.2180_2181del
 ClinVar
11g.77174893T>ACA475794619MYO7Ac.2073T>A (p.Gly691=)
c.138T>A (p.Gly46=)
c.2040T>A (p.Gly680=)
c.1842T>A (p.Gly614=)
c.1815T>A (p.Gly605=)
n.2393T>A
n.2395T>A
c.2163T>A (p.Gly721=)
c.1932T>A (p.Gly644=)
n.2178T>A
11g.77174893T>CCA475794621MYO7Ac.2073T>C (p.Gly691=)
c.138T>C (p.Gly46=)
c.2040T>C (p.Gly680=)
c.1842T>C (p.Gly614=)
c.1815T>C (p.Gly605=)
n.2393T>C
n.2395T>C
c.2163T>C (p.Gly721=)
c.1932T>C (p.Gly644=)
n.2178T>C
 gnomAD v4
11g.77174893T>GCA475794620MYO7Ac.2073T>G (p.Gly691=)
c.138T>G (p.Gly46=)
c.2040T>G (p.Gly680=)
c.1842T>G (p.Gly614=)
c.1815T>G (p.Gly605=)
n.2393T>G
n.2395T>G
c.2163T>G (p.Gly721=)
c.1932T>G (p.Gly644=)
n.2178T>G
 dbSNP
11g.77174893T=CA1984113987MYO7Ac.2073T= (p.Gly691=)
c.138T= (p.Gly46=)
c.2040T= (p.Gly680=)
c.1842T= (p.Gly614=)
c.1815T= (p.Gly605=)
n.2393T=
n.2395T=
c.2163T= (p.Gly721=)
c.1932T= (p.Gly644=)
n.2178T=
11g.77174894G>ACA381939510MYO7Ac.2074G>A (p.Val692Met)
c.139G>A (p.Val47Met)
c.2041G>A (p.Val681Met)
c.1843G>A (p.Val615Met)
c.1816G>A (p.Val606Met)
n.2394G>A
n.2396G>A
c.2164G>A (p.Val722Met)
c.1933G>A (p.Val645Met)
n.2179G>A
11g.77174894G>CCA381939511MYO7Ac.2074G>C (p.Val692Leu)
c.139G>C (p.Val47Leu)
c.2041G>C (p.Val681Leu)
c.1843G>C (p.Val615Leu)
c.1816G>C (p.Val606Leu)
n.2394G>C
n.2396G>C
c.2164G>C (p.Val722Leu)
c.1933G>C (p.Val645Leu)
n.2179G>C
11g.77174894G>TCA381939513MYO7Ac.2074G>T (p.Val692Leu)
c.139G>T (p.Val47Leu)
c.2041G>T (p.Val681Leu)
c.1843G>T (p.Val615Leu)
c.1816G>T (p.Val606Leu)
n.2394G>T
n.2396G>T
c.2164G>T (p.Val722Leu)
c.1933G>T (p.Val645Leu)
n.2179G>T
11g.77174895T>ACA381939515MYO7Ac.2075T>A (p.Val692Glu)
c.140T>A (p.Val47Glu)
c.2042T>A (p.Val681Glu)
c.1844T>A (p.Val615Glu)
c.1817T>A (p.Val606Glu)
n.2395T>A
n.2397T>A
c.2165T>A (p.Val722Glu)
c.1934T>A (p.Val645Glu)
n.2180T>A
11g.77174895T>CCA381939517MYO7Ac.2075T>C (p.Val692Ala)
c.140T>C (p.Val47Ala)
c.2042T>C (p.Val681Ala)
c.1844T>C (p.Val615Ala)
c.1817T>C (p.Val606Ala)
n.2395T>C
n.2397T>C
c.2165T>C (p.Val722Ala)
c.1934T>C (p.Val645Ala)
n.2180T>C
11g.77174895T>GCA381939519MYO7Ac.2075T>G (p.Val692Gly)
c.140T>G (p.Val47Gly)
c.2042T>G (p.Val681Gly)
c.1844T>G (p.Val615Gly)
c.1817T>G (p.Val606Gly)
n.2395T>G
n.2397T>G
c.2165T>G (p.Val722Gly)
c.1934T>G (p.Val645Gly)
n.2180T>G
11g.77174896G>ACA224837189MYO7Ac.2076G>A (p.Val692=)
c.141G>A (p.Val47=)
c.2043G>A (p.Val681=)
c.1845G>A (p.Val615=)
c.1818G>A (p.Val606=)
n.2396G>A
n.2398G>A
c.2166G>A (p.Val722=)
c.1935G>A (p.Val645=)
n.2181G>A
 ClinVar dbSNP gnomAD v4
11g.77174896G>CCA475794622MYO7Ac.2076G>C (p.Val692=)
c.141G>C (p.Val47=)
c.2043G>C (p.Val681=)
c.1845G>C (p.Val615=)
c.1818G>C (p.Val606=)
n.2396G>C
n.2398G>C
c.2166G>C (p.Val722=)
c.1935G>C (p.Val645=)
n.2181G>C
11g.77174896G=CA1984113991MYO7Ac.2076G= (p.Val692=)
c.141G= (p.Val47=)
c.2043G= (p.Val681=)
c.1845G= (p.Val615=)
c.1818G= (p.Val606=)
n.2396G=
n.2398G=
c.2166G= (p.Val722=)
c.1935G= (p.Val645=)
n.2181G=
11g.77174896G>TCA475794623MYO7Ac.2076G>T (p.Val692=)
c.141G>T (p.Val47=)
c.2043G>T (p.Val681=)
c.1845G>T (p.Val615=)
c.1818G>T (p.Val606=)
n.2396G>T
n.2398G>T
c.2166G>T (p.Val722=)
c.1935G>T (p.Val645=)
n.2181G>T
11g.77174897A>CCA381939521MYO7Ac.2077A>C (p.Lys693Gln)
c.142A>C (p.Lys48Gln)
c.2044A>C (p.Lys682Gln)
c.1846A>C (p.Lys616Gln)
c.1819A>C (p.Lys607Gln)
n.2397A>C
n.2399A>C
c.2167A>C (p.Lys723Gln)
c.1936A>C (p.Lys646Gln)
n.2182A>C
11g.77174897A>GCA381939522MYO7Ac.2077A>G (p.Lys693Glu)
c.142A>G (p.Lys48Glu)
c.2044A>G (p.Lys682Glu)
c.1846A>G (p.Lys616Glu)
c.1819A>G (p.Lys607Glu)
n.2397A>G
n.2399A>G
c.2167A>G (p.Lys723Glu)
c.1936A>G (p.Lys646Glu)
n.2182A>G
11g.77174897A>TCA381939523MYO7Ac.2077A>T (p.Lys693Ter)
c.142A>T (p.Lys48Ter)
c.2044A>T (p.Lys682Ter)
c.1846A>T (p.Lys616Ter)
c.1819A>T (p.Lys607Ter)
n.2397A>T
n.2399A>T
c.2167A>T (p.Lys723Ter)
c.1936A>T (p.Lys646Ter)
n.2182A>T
11g.77174897_77174898delinsTCA2580084925MYO7Ac.2077_2078delinsT (p.Lys693CysfsTer29)
c.142_143delinsT (p.Lys48CysfsTer29)
c.2044_2045delinsT (p.Lys682CysfsTer29)
c.1846_1847delinsT (p.Lys616CysfsTer29)
c.1819_1820delinsT (p.Lys607CysfsTer29)
n.2397_2398delinsT
n.2399_2400delinsT
c.2167_2168delinsT (p.Lys723CysfsTer29)
c.1936_1937delinsT (p.Lys646CysfsTer29)
n.2182_2183delinsT
 ClinVar
11g.77174898delCA2615250181MYO7Ac.2078del (p.Lys693SerfsTer29)
c.143del (p.Lys48SerfsTer29)
c.2045del (p.Lys682SerfsTer29)
c.1847del (p.Lys616SerfsTer29)
c.1820del (p.Lys607SerfsTer29)
n.2398del
n.2400del
c.2168del (p.Lys723SerfsTer29)
c.1937del (p.Lys646SerfsTer29)
n.2183del
 gnomAD v4
11g.77174898A>CCA381939525MYO7Ac.2078A>C (p.Lys693Thr)
c.143A>C (p.Lys48Thr)
c.2045A>C (p.Lys682Thr)
c.1847A>C (p.Lys616Thr)
c.1820A>C (p.Lys607Thr)
n.2398A>C
n.2400A>C
c.2168A>C (p.Lys723Thr)
c.1937A>C (p.Lys646Thr)
n.2183A>C
11g.77174898A>GCA381939529MYO7Ac.2078A>G (p.Lys693Arg)
c.143A>G (p.Lys48Arg)
c.2045A>G (p.Lys682Arg)
c.1847A>G (p.Lys616Arg)
c.1820A>G (p.Lys607Arg)
n.2398A>G
n.2400A>G
c.2168A>G (p.Lys723Arg)
c.1937A>G (p.Lys646Arg)
n.2183A>G
11g.77174898A>TCA381939527MYO7Ac.2078A>T (p.Lys693Met)
c.143A>T (p.Lys48Met)
c.2045A>T (p.Lys682Met)
c.1847A>T (p.Lys616Met)
c.1820A>T (p.Lys607Met)
n.2398A>T
n.2400A>T
c.2168A>T (p.Lys723Met)
c.1937A>T (p.Lys646Met)
n.2183A>T
11g.77174899G>ACA475794624MYO7Ac.2079G>A (p.Lys693=)
c.144G>A (p.Lys48=)
c.2046G>A (p.Lys682=)
c.1848G>A (p.Lys616=)
c.1821G>A (p.Lys607=)
n.2399G>A
n.2401G>A
c.2169G>A (p.Lys723=)
c.1938G>A (p.Lys646=)
n.2184G>A
11g.77174899G>CCA381939531MYO7Ac.2079G>C (p.Lys693Asn)
c.144G>C (p.Lys48Asn)
c.2046G>C (p.Lys682Asn)
c.1848G>C (p.Lys616Asn)
c.1821G>C (p.Lys607Asn)
n.2399G>C
n.2401G>C
c.2169G>C (p.Lys723Asn)
c.1938G>C (p.Lys646Asn)
n.2184G>C
 gnomAD v4
11g.77174899G>TCA381939532MYO7Ac.2079G>T (p.Lys693Asn)
c.144G>T (p.Lys48Asn)
c.2046G>T (p.Lys682Asn)
c.1848G>T (p.Lys616Asn)
c.1821G>T (p.Lys607Asn)
n.2399G>T
n.2401G>T
c.2169G>T (p.Lys723Asn)
c.1938G>T (p.Lys646Asn)
n.2184G>T
11g.77174900C>ACA381939534MYO7Ac.2080C>A (p.Pro694Thr)
c.145C>A (p.Pro49Thr)
c.2047C>A (p.Pro683Thr)
c.1849C>A (p.Pro617Thr)
c.1822C>A (p.Pro608Thr)
n.2400C>A
n.2402C>A
c.2170C>A (p.Pro724Thr)
c.1939C>A (p.Pro647Thr)
n.2185C>A
 ClinVar dbSNP
11g.77174900C>GCA381939535MYO7Ac.2080C>G (p.Pro694Ala)
c.145C>G (p.Pro49Ala)
c.2047C>G (p.Pro683Ala)
c.1849C>G (p.Pro617Ala)
c.1822C>G (p.Pro608Ala)
n.2400C>G
n.2402C>G
c.2170C>G (p.Pro724Ala)
c.1939C>G (p.Pro647Ala)
n.2185C>G
11g.77174900C>TCA381939537MYO7Ac.2080C>T (p.Pro694Ser)
c.145C>T (p.Pro49Ser)
c.2047C>T (p.Pro683Ser)
c.1849C>T (p.Pro617Ser)
c.1822C>T (p.Pro608Ser)
n.2400C>T
n.2402C>T
c.2170C>T (p.Pro724Ser)
c.1939C>T (p.Pro647Ser)
n.2185C>T
11g.77174901C>ACA381939539MYO7Ac.2081C>A (p.Pro694Gln)
c.146C>A (p.Pro49Gln)
c.2048C>A (p.Pro683Gln)
c.1850C>A (p.Pro617Gln)
c.1823C>A (p.Pro608Gln)
n.2401C>A
n.2403C>A
c.2171C>A (p.Pro724Gln)
c.1940C>A (p.Pro647Gln)
n.2186C>A
11g.77174901C=CA1984113997MYO7Ac.2081C= (p.Pro694=)
c.146C= (p.Pro49=)
c.2048C= (p.Pro683=)
c.1850C= (p.Pro617=)
c.1823C= (p.Pro608=)
n.2401C=
n.2403C=
c.2171C= (p.Pro724=)
c.1940C= (p.Pro647=)
n.2186C=
11g.77174901C>GCA381939541MYO7Ac.2081C>G (p.Pro694Arg)
c.146C>G (p.Pro49Arg)
c.2048C>G (p.Pro683Arg)
c.1850C>G (p.Pro617Arg)
c.1823C>G (p.Pro608Arg)
n.2401C>G
n.2403C>G
c.2171C>G (p.Pro724Arg)
c.1940C>G (p.Pro647Arg)
n.2186C>G
11g.77174901C>TCA6197679MYO7Ac.2081C>T (p.Pro694Leu)
c.146C>T (p.Pro49Leu)
c.2048C>T (p.Pro683Leu)
c.1850C>T (p.Pro617Leu)
c.1823C>T (p.Pro608Leu)
n.2401C>T
n.2403C>T
c.2171C>T (p.Pro724Leu)
c.1940C>T (p.Pro647Leu)
n.2186C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174902G>ACA6197681MYO7Ac.2082G>A (p.Pro694=)
c.147G>A (p.Pro49=)
c.2049G>A (p.Pro683=)
c.1851G>A (p.Pro617=)
c.1824G>A (p.Pro608=)
n.2402G>A
n.2404G>A
c.2172G>A (p.Pro724=)
c.1941G>A (p.Pro647=)
n.2187G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174902G>CCA6197680MYO7Ac.2082G>C (p.Pro694=)
c.147G>C (p.Pro49=)
c.2049G>C (p.Pro683=)
c.1851G>C (p.Pro617=)
c.1824G>C (p.Pro608=)
n.2402G>C
n.2404G>C
c.2172G>C (p.Pro724=)
c.1941G>C (p.Pro647=)
n.2187G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77174902G=CA1984114004MYO7Ac.2082G= (p.Pro694=)
c.147G= (p.Pro49=)
c.2049G= (p.Pro683=)
c.1851G= (p.Pro617=)
c.1824G= (p.Pro608=)
n.2402G=
n.2404G=
c.2172G= (p.Pro724=)
c.1941G= (p.Pro647=)
n.2187G=
11g.77174902G>TCA475794625MYO7Ac.2082G>T (p.Pro694=)
c.147G>T (p.Pro49=)
c.2049G>T (p.Pro683=)
c.1851G>T (p.Pro617=)
c.1824G>T (p.Pro608=)
n.2402G>T
n.2404G>T
c.2172G>T (p.Pro724=)
c.1941G>T (p.Pro647=)
n.2187G>T
11g.77174903G>ACA381939545MYO7Ac.2083G>A (p.Ala695Thr)
c.148G>A (p.Ala50Thr)
c.2050G>A (p.Ala684Thr)
c.1852G>A (p.Ala618Thr)
c.1825G>A (p.Ala609Thr)
n.2403G>A
n.2405G>A
c.2173G>A (p.Ala725Thr)
c.1942G>A (p.Ala648Thr)
n.2188G>A
 ClinVar dbSNP
11g.77174903G>CCA381939547MYO7Ac.2083G>C (p.Ala695Pro)
c.148G>C (p.Ala50Pro)
c.2050G>C (p.Ala684Pro)
c.1852G>C (p.Ala618Pro)
c.1825G>C (p.Ala609Pro)
n.2403G>C
n.2405G>C
c.2173G>C (p.Ala725Pro)
c.1942G>C (p.Ala648Pro)
n.2188G>C
11g.77174903G=CA1984114008MYO7Ac.2083G= (p.Ala695=)
c.148G= (p.Ala50=)
c.2050G= (p.Ala684=)
c.1852G= (p.Ala618=)
c.1825G= (p.Ala609=)
n.2403G=
n.2405G=
c.2173G= (p.Ala725=)
c.1942G= (p.Ala648=)
n.2188G=
11g.77174903G>TCA381939548MYO7Ac.2083G>T (p.Ala695Ser)
c.148G>T (p.Ala50Ser)
c.2050G>T (p.Ala684Ser)
c.1852G>T (p.Ala618Ser)
c.1825G>T (p.Ala609Ser)
n.2403G>T
n.2405G>T
c.2173G>T (p.Ala725Ser)
c.1942G>T (p.Ala648Ser)
n.2188G>T
11g.77174904C>ACA381939554MYO7Ac.2084C>A (p.Ala695Asp)
c.149C>A (p.Ala50Asp)
c.2051C>A (p.Ala684Asp)
c.1853C>A (p.Ala618Asp)
c.1826C>A (p.Ala609Asp)
n.2404C>A
n.2406C>A
c.2174C>A (p.Ala725Asp)
c.1943C>A (p.Ala648Asp)
n.2189C>A
11g.77174904C=CA1984114027MYO7Ac.2084C= (p.Ala695=)
c.149C= (p.Ala50=)
c.2051C= (p.Ala684=)
c.1853C= (p.Ala618=)
c.1826C= (p.Ala609=)
n.2404C=
n.2406C=
c.2174C= (p.Ala725=)
c.1943C= (p.Ala648=)
n.2189C=
11g.77174904C>GCA381939552MYO7Ac.2084C>G (p.Ala695Gly)
c.149C>G (p.Ala50Gly)
c.2051C>G (p.Ala684Gly)
c.1853C>G (p.Ala618Gly)
c.1826C>G (p.Ala609Gly)
n.2404C>G
n.2406C>G
c.2174C>G (p.Ala725Gly)
c.1943C>G (p.Ala648Gly)
n.2189C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77174904C>TCA381939551MYO7Ac.2084C>T (p.Ala695Val)
c.149C>T (p.Ala50Val)
c.2051C>T (p.Ala684Val)
c.1853C>T (p.Ala618Val)
c.1826C>T (p.Ala609Val)
n.2404C>T
n.2406C>T
c.2174C>T (p.Ala725Val)
c.1943C>T (p.Ala648Val)
n.2189C>T
11g.77174905C>ACA475794626MYO7Ac.2085C>A (p.Ala695=)
c.150C>A (p.Ala50=)
c.2052C>A (p.Ala684=)
c.1854C>A (p.Ala618=)
c.1827C>A (p.Ala609=)
n.2405C>A
n.2407C>A
c.2175C>A (p.Ala725=)
c.1944C>A (p.Ala648=)
n.2190C>A
11g.77174905C=CA1984114030MYO7Ac.2085C= (p.Ala695=)
c.150C= (p.Ala50=)
c.2052C= (p.Ala684=)
c.1854C= (p.Ala618=)
c.1827C= (p.Ala609=)
n.2405C=
n.2407C=
c.2175C= (p.Ala725=)
c.1944C= (p.Ala648=)
n.2190C=
11g.77174905C>GCA475794627MYO7Ac.2085C>G (p.Ala695=)
c.150C>G (p.Ala50=)
c.2052C>G (p.Ala684=)
c.1854C>G (p.Ala618=)
c.1827C>G (p.Ala609=)
n.2405C>G
n.2407C>G
c.2175C>G (p.Ala725=)
c.1944C>G (p.Ala648=)
n.2190C>G
11g.77174905C>TCA6197682MYO7Ac.2085C>T (p.Ala695=)
c.150C>T (p.Ala50=)
c.2052C>T (p.Ala684=)
c.1854C>T (p.Ala618=)
c.1827C>T (p.Ala609=)
n.2405C>T
n.2407C>T
c.2175C>T (p.Ala725=)
c.1944C>T (p.Ala648=)
n.2190C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77174906T>ACA381939556MYO7Ac.2086T>A (p.Tyr696Asn)
c.151T>A (p.Tyr51Asn)
c.2053T>A (p.Tyr685Asn)
c.1855T>A (p.Tyr619Asn)
c.1828T>A (p.Tyr610Asn)
n.2406T>A
n.2408T>A
c.2176T>A (p.Tyr726Asn)
c.1945T>A (p.Tyr649Asn)
n.2191T>A
11g.77174906T>CCA381939558MYO7Ac.2086T>C (p.Tyr696His)
c.151T>C (p.Tyr51His)
c.2053T>C (p.Tyr685His)
c.1855T>C (p.Tyr619His)
c.1828T>C (p.Tyr610His)
n.2406T>C
n.2408T>C
c.2176T>C (p.Tyr726His)
c.1945T>C (p.Tyr649His)
n.2191T>C
11g.77174906T>GCA381939559MYO7Ac.2086T>G (p.Tyr696Asp)
c.151T>G (p.Tyr51Asp)
c.2053T>G (p.Tyr685Asp)
c.1855T>G (p.Tyr619Asp)
c.1828T>G (p.Tyr610Asp)
n.2406T>G
n.2408T>G
c.2176T>G (p.Tyr726Asp)
c.1945T>G (p.Tyr649Asp)
n.2191T>G
11g.77174906dupCA1984114033MYO7Ac.2086dup (p.Tyr696LeufsTer15)
c.151dup (p.Tyr51LeufsTer15)
c.2053dup (p.Tyr685LeufsTer15)
c.1855dup (p.Tyr619LeufsTer15)
c.1828dup (p.Tyr610LeufsTer15)
n.2406dup
n.2408dup
c.2176dup (p.Tyr726LeufsTer15)
c.1945dup (p.Tyr649LeufsTer15)
n.2191dup
 dbSNP
11g.77174907A>CCA381939560MYO7Ac.2087A>C (p.Tyr696Ser)
c.152A>C (p.Tyr51Ser)
c.2054A>C (p.Tyr685Ser)
c.1856A>C (p.Tyr619Ser)
c.1829A>C (p.Tyr610Ser)
n.2407A>C
n.2409A>C
c.2177A>C (p.Tyr726Ser)
c.1946A>C (p.Tyr649Ser)
n.2192A>C
11g.77174907A>GCA381939562MYO7Ac.2087A>G (p.Tyr696Cys)
c.152A>G (p.Tyr51Cys)
c.2054A>G (p.Tyr685Cys)
c.1856A>G (p.Tyr619Cys)
c.1829A>G (p.Tyr610Cys)
n.2407A>G
n.2409A>G
c.2177A>G (p.Tyr726Cys)
c.1946A>G (p.Tyr649Cys)
n.2192A>G
 ClinVar dbSNP COSMIC
11g.77174907A>TCA381939564MYO7Ac.2087A>T (p.Tyr696Phe)
c.152A>T (p.Tyr51Phe)
c.2054A>T (p.Tyr685Phe)
c.1856A>T (p.Tyr619Phe)
c.1829A>T (p.Tyr610Phe)
n.2407A>T
n.2409A>T
c.2177A>T (p.Tyr726Phe)
c.1946A>T (p.Tyr649Phe)
n.2192A>T
11g.77174908C>ACA381939566MYO7Ac.2088C>A (p.Tyr696Ter)
c.153C>A (p.Tyr51Ter)
c.2055C>A (p.Tyr685Ter)
c.1857C>A (p.Tyr619Ter)
c.1830C>A (p.Tyr610Ter)
n.2408C>A
n.2410C>A
c.2178C>A (p.Tyr726Ter)
c.1947C>A (p.Tyr649Ter)
n.2193C>A
11g.77174908C=CA1984114038MYO7Ac.2088C= (p.Tyr696=)
c.153C= (p.Tyr51=)
c.2055C= (p.Tyr685=)
c.1857C= (p.Tyr619=)
c.1830C= (p.Tyr610=)
n.2408C=
n.2410C=
c.2178C= (p.Tyr726=)
c.1947C= (p.Tyr649=)
n.2193C=
11g.77174908C>GCA381939571MYO7Ac.2088C>G (p.Tyr696Ter)
c.153C>G (p.Tyr51Ter)
c.2055C>G (p.Tyr685Ter)
c.1857C>G (p.Tyr619Ter)
c.1830C>G (p.Tyr610Ter)
n.2408C>G
n.2410C>G
c.2178C>G (p.Tyr726Ter)
c.1947C>G (p.Tyr649Ter)
n.2193C>G
11g.77174908C>TCA6197683MYO7Ac.2088C>T (p.Tyr696=)
c.153C>T (p.Tyr51=)
c.2055C>T (p.Tyr685=)
c.1857C>T (p.Tyr619=)
c.1830C>T (p.Tyr610=)
n.2408C>T
n.2410C>T
c.2178C>T (p.Tyr726=)
c.1947C>T (p.Tyr649=)
n.2193C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174909A>CCA381939572MYO7Ac.2089A>C (p.Lys697Gln)
c.154A>C (p.Lys52Gln)
c.2056A>C (p.Lys686Gln)
c.1858A>C (p.Lys620Gln)
c.1831A>C (p.Lys611Gln)
n.2409A>C
n.2411A>C
c.2179A>C (p.Lys727Gln)
c.1948A>C (p.Lys650Gln)
n.2194A>C
11g.77174909A>GCA381939573MYO7Ac.2089A>G (p.Lys697Glu)
c.154A>G (p.Lys52Glu)
c.2056A>G (p.Lys686Glu)
c.1858A>G (p.Lys620Glu)
c.1831A>G (p.Lys611Glu)
n.2409A>G
n.2411A>G
c.2179A>G (p.Lys727Glu)
c.1948A>G (p.Lys650Glu)
n.2194A>G
11g.77174909A>TCA381939574MYO7Ac.2089A>T (p.Lys697Ter)
c.154A>T (p.Lys52Ter)
c.2056A>T (p.Lys686Ter)
c.1858A>T (p.Lys620Ter)
c.1831A>T (p.Lys611Ter)
n.2409A>T
n.2411A>T
c.2179A>T (p.Lys727Ter)
c.1948A>T (p.Lys650Ter)
n.2194A>T
 ClinVar
11g.77174910A>CCA381939576MYO7Ac.2090A>C (p.Lys697Thr)
c.155A>C (p.Lys52Thr)
c.2057A>C (p.Lys686Thr)
c.1859A>C (p.Lys620Thr)
c.1832A>C (p.Lys611Thr)
n.2410A>C
n.2412A>C
c.2180A>C (p.Lys727Thr)
c.1949A>C (p.Lys650Thr)
n.2195A>C
11g.77174910A>GCA381939577MYO7Ac.2090A>G (p.Lys697Arg)
c.155A>G (p.Lys52Arg)
c.2057A>G (p.Lys686Arg)
c.1859A>G (p.Lys620Arg)
c.1832A>G (p.Lys611Arg)
n.2410A>G
n.2412A>G
c.2180A>G (p.Lys727Arg)
c.1949A>G (p.Lys650Arg)
n.2195A>G
 dbSNP gnomAD v4
11g.77174910A>TCA381939575MYO7Ac.2090A>T (p.Lys697Met)
c.155A>T (p.Lys52Met)
c.2057A>T (p.Lys686Met)
c.1859A>T (p.Lys620Met)
c.1832A>T (p.Lys611Met)
n.2410A>T
n.2412A>T
c.2180A>T (p.Lys727Met)
c.1949A>T (p.Lys650Met)
n.2195A>T
11g.77174911G>ACA177378MYO7Ac.2091G>A (p.Lys697=)
c.156G>A (p.Lys52=)
c.2058G>A (p.Lys686=)
c.1860G>A (p.Lys620=)
c.1833G>A (p.Lys611=)
n.2411G>A
n.2413G>A
c.2181G>A (p.Lys727=)
c.1950G>A (p.Lys650=)
n.2196G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77174911G>CCA381939578MYO7Ac.2091G>C (p.Lys697Asn)
c.156G>C (p.Lys52Asn)
c.2058G>C (p.Lys686Asn)
c.1860G>C (p.Lys620Asn)
c.1833G>C (p.Lys611Asn)
n.2411G>C
n.2413G>C
c.2181G>C (p.Lys727Asn)
c.1950G>C (p.Lys650Asn)
n.2196G>C
11g.77174911G=CA1984114050MYO7Ac.2091G= (p.Lys697=)
c.156G= (p.Lys52=)
c.2058G= (p.Lys686=)
c.1860G= (p.Lys620=)
c.1833G= (p.Lys611=)
n.2411G=
n.2413G=
c.2181G= (p.Lys727=)
c.1950G= (p.Lys650=)
n.2196G=
11g.77174911G>TCA381939579MYO7Ac.2091G>T (p.Lys697Asn)
c.156G>T (p.Lys52Asn)
c.2058G>T (p.Lys686Asn)
c.1860G>T (p.Lys620Asn)
c.1833G>T (p.Lys611Asn)
n.2411G>T
n.2413G>T
c.2181G>T (p.Lys727Asn)
c.1950G>T (p.Lys650Asn)
n.2196G>T
11g.77174912C>ACA381939580MYO7Ac.2092C>A (p.Gln698Lys)
c.157C>A (p.Gln53Lys)
c.2059C>A (p.Gln687Lys)
c.1861C>A (p.Gln621Lys)
c.1834C>A (p.Gln612Lys)
n.2412C>A
n.2414C>A
c.2182C>A (p.Gln728Lys)
c.1951C>A (p.Gln651Lys)
n.2197C>A
 COSMIC
11g.77174912C>GCA381939581MYO7Ac.2092C>G (p.Gln698Glu)
c.157C>G (p.Gln53Glu)
c.2059C>G (p.Gln687Glu)
c.1861C>G (p.Gln621Glu)
c.1834C>G (p.Gln612Glu)
n.2412C>G
n.2414C>G
c.2182C>G (p.Gln728Glu)
c.1951C>G (p.Gln651Glu)
n.2197C>G
11g.77174912C>TCA381939582MYO7Ac.2092C>T (p.Gln698Ter)
c.157C>T (p.Gln53Ter)
c.2059C>T (p.Gln687Ter)
c.1861C>T (p.Gln621Ter)
c.1834C>T (p.Gln612Ter)
n.2412C>T
n.2414C>T
c.2182C>T (p.Gln728Ter)
c.1951C>T (p.Gln651Ter)
n.2197C>T
11g.77174913A>CCA381939583MYO7Ac.2093A>C (p.Gln698Pro)
c.158A>C (p.Gln53Pro)
c.2060A>C (p.Gln687Pro)
c.1862A>C (p.Gln621Pro)
c.1835A>C (p.Gln612Pro)
n.2413A>C
n.2415A>C
c.2183A>C (p.Gln728Pro)
c.1952A>C (p.Gln651Pro)
n.2198A>C
11g.77174913A>GCA381939584MYO7Ac.2093A>G (p.Gln698Arg)
c.158A>G (p.Gln53Arg)
c.2060A>G (p.Gln687Arg)
c.1862A>G (p.Gln621Arg)
c.1835A>G (p.Gln612Arg)
n.2413A>G
n.2415A>G
c.2183A>G (p.Gln728Arg)
c.1952A>G (p.Gln651Arg)
n.2198A>G
 ClinVar gnomAD v4
11g.77174913A>TCA381939585MYO7Ac.2093A>T (p.Gln698Leu)
c.158A>T (p.Gln53Leu)
c.2060A>T (p.Gln687Leu)
c.1862A>T (p.Gln621Leu)
c.1835A>T (p.Gln612Leu)
n.2413A>T
n.2415A>T
c.2183A>T (p.Gln728Leu)
c.1952A>T (p.Gln651Leu)
n.2198A>T
11g.77174914G>ACA475794628MYO7Ac.2094G>A (p.Gln698=)
c.159G>A (p.Gln53=)
c.2061G>A (p.Gln687=)
c.1863G>A (p.Gln621=)
c.1836G>A (p.Gln612=)
n.2414G>A
n.2416G>A
c.2184G>A (p.Gln728=)
c.1953G>A (p.Gln651=)
n.2199G>A
11g.77174914G>CCA381939586MYO7Ac.2094G>C (p.Gln698His)
c.159G>C (p.Gln53His)
c.2061G>C (p.Gln687His)
c.1863G>C (p.Gln621His)
c.1836G>C (p.Gln612His)
n.2414G>C
n.2416G>C
c.2184G>C (p.Gln728His)
c.1953G>C (p.Gln651His)
n.2199G>C
11g.77174914G>TCA381939587MYO7Ac.2094G>T (p.Gln698His)
c.159G>T (p.Gln53His)
c.2061G>T (p.Gln687His)
c.1863G>T (p.Gln621His)
c.1836G>T (p.Gln612His)
n.2414G>T
n.2416G>T
c.2184G>T (p.Gln728His)
c.1953G>T (p.Gln651His)
n.2199G>T
11g.77174915G>ACA278642MYO7Ac.2094+1G>A (n.2094+1G>A)
c.159+1G>A (n.159+1G>A)
c.2061+1G>A (n.2061+1G>A)
c.1863+1G>A (n.1863+1G>A)
c.1836+1G>A (n.1836+1G>A)
n.2414+1G>A
n.2416+1G>A
c.2184+1G>A (n.2184+1G>A)
c.1953+1G>A (n.1953+1G>A)
n.2199+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77174915G>CCA278643MYO7Ac.2094+1G>C (n.2094+1G>C)
c.159+1G>C (n.159+1G>C)
c.2061+1G>C (n.2061+1G>C)
c.1863+1G>C (n.1863+1G>C)
c.1836+1G>C (n.1836+1G>C)
n.2414+1G>C
n.2416+1G>C
c.2184+1G>C (n.2184+1G>C)
c.1953+1G>C (n.1953+1G>C)
n.2199+1G>C
 ClinVar dbSNP ExAC gnomAD v2
11g.77174915G=CA1984114061MYO7Ac.2094+1G= (n.2094+1G=)
c.159+1G= (n.159+1G=)
c.2061+1G= (n.2061+1G=)
c.1863+1G= (n.1863+1G=)
c.1836+1G= (n.1836+1G=)
n.2414+1G=
n.2416+1G=
c.2184+1G= (n.2184+1G=)
c.1953+1G= (n.1953+1G=)
n.2199+1G=
11g.77174915G>TCA381939588MYO7Ac.2094+1G>T (n.2094+1G>T)
c.159+1G>T (n.159+1G>T)
c.2061+1G>T (n.2061+1G>T)
c.1863+1G>T (n.1863+1G>T)
c.1836+1G>T (n.1836+1G>T)
n.2414+1G>T
n.2416+1G>T
c.2184+1G>T (n.2184+1G>T)
c.1953+1G>T (n.1953+1G>T)
n.2199+1G>T
11g.77174916T>ACA381939589MYO7Ac.2094+2T>A (n.2094+2T>A)
c.159+2T>A (n.159+2T>A)
c.2061+2T>A (n.2061+2T>A)
c.1863+2T>A (n.1863+2T>A)
c.1836+2T>A (n.1836+2T>A)
n.2414+2T>A
n.2416+2T>A
c.2184+2T>A (n.2184+2T>A)
c.1953+2T>A (n.1953+2T>A)
n.2199+2T>A
11g.77174916T>CCA381939590MYO7Ac.2094+2T>C (n.2094+2T>C)
c.159+2T>C (n.159+2T>C)
c.2061+2T>C (n.2061+2T>C)
c.1863+2T>C (n.1863+2T>C)
c.1836+2T>C (n.1836+2T>C)
n.2414+2T>C
n.2416+2T>C
c.2184+2T>C (n.2184+2T>C)
c.1953+2T>C (n.1953+2T>C)
n.2199+2T>C
11g.77174916T>GCA381939591MYO7Ac.2094+2T>G (n.2094+2T>G)
c.159+2T>G (n.159+2T>G)
c.2061+2T>G (n.2061+2T>G)
c.1863+2T>G (n.1863+2T>G)
c.1836+2T>G (n.1836+2T>G)
n.2414+2T>G
n.2416+2T>G
c.2184+2T>G (n.2184+2T>G)
c.1953+2T>G (n.1953+2T>G)
n.2199+2T>G
11g.77174917A>GCA2615250281MYO7Ac.2094+3A>G (n.2094+3A>G)
c.159+3A>G (n.159+3A>G)
c.2061+3A>G (n.2061+3A>G)
c.1863+3A>G (n.1863+3A>G)
c.1836+3A>G (n.1836+3A>G)
n.2414+3A>G
n.2416+3A>G
c.2184+3A>G (n.2184+3A>G)
c.1953+3A>G (n.1953+3A>G)
n.2199+3A>G
 gnomAD v4

Number of alleles fetched