Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.67782905G>ACA390170428ZFYVE26c.4247C>T (p.Ala1416Val)
n.4384C>T
c.*2350+194C>T (n.*2350+194C>T)
c.2738C>T (p.Ala913Val)
c.1922C>T (p.Ala641Val)
c.1829C>T (p.Ala610Val)
 dbSNP
14g.67782905G>CCA390170429ZFYVE26c.4247C>G (p.Ala1416Gly)
n.4384C>G
c.*2350+194C>G (n.*2350+194C>G)
c.2738C>G (p.Ala913Gly)
c.1922C>G (p.Ala641Gly)
c.1829C>G (p.Ala610Gly)
14g.67782905G=CA2144027675ZFYVE26c.4247C= (p.Ala1416=)
n.4384C=
c.*2350+194C= (n.*2350+194C=)
c.2738C= (p.Ala913=)
c.1922C= (p.Ala641=)
c.1829C= (p.Ala610=)
14g.67782905G>TCA390170431ZFYVE26c.4247C>A (p.Ala1416Asp)
n.4384C>A
c.*2350+194C>A (n.*2350+194C>A)
c.2738C>A (p.Ala913Asp)
c.1922C>A (p.Ala641Asp)
c.1829C>A (p.Ala610Asp)
14g.67782906C>ACA390170434ZFYVE26c.4246G>T (p.Ala1416Ser)
n.4383G>T
c.*2350+193G>T (n.*2350+193G>T)
c.2737G>T (p.Ala913Ser)
c.1921G>T (p.Ala641Ser)
c.1828G>T (p.Ala610Ser)
14g.67782906C=CA2144027676ZFYVE26c.4246G= (p.Ala1416=)
n.4383G=
c.*2350+193G= (n.*2350+193G=)
c.2737G= (p.Ala913=)
c.1921G= (p.Ala641=)
c.1828G= (p.Ala610=)
14g.67782906C>GCA390170435ZFYVE26c.4246G>C (p.Ala1416Pro)
n.4383G>C
c.*2350+193G>C (n.*2350+193G>C)
c.2737G>C (p.Ala913Pro)
c.1921G>C (p.Ala641Pro)
c.1828G>C (p.Ala610Pro)
14g.67782906C>TCA7239816ZFYVE26c.4246G>A (p.Ala1416Thr)
n.4383G>A
c.*2350+193G>A (n.*2350+193G>A)
c.2737G>A (p.Ala913Thr)
c.1921G>A (p.Ala641Thr)
c.1828G>A (p.Ala610Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782907C>ACA390170438ZFYVE26c.4245G>T (p.Glu1415Asp)
n.4382G>T
c.*2350+192G>T (n.*2350+192G>T)
c.2736G>T (p.Glu912Asp)
c.1920G>T (p.Glu640Asp)
c.1827G>T (p.Glu609Asp)
14g.67782907C=CA2144027677ZFYVE26c.4245G= (p.Glu1415=)
n.4382G=
c.*2350+192G= (n.*2350+192G=)
c.2736G= (p.Glu912=)
c.1920G= (p.Glu640=)
c.1827G= (p.Glu609=)
14g.67782907C>GCA390170440ZFYVE26c.4245G>C (p.Glu1415Asp)
n.4382G>C
c.*2350+192G>C (n.*2350+192G>C)
c.2736G>C (p.Glu912Asp)
c.1920G>C (p.Glu640Asp)
c.1827G>C (p.Glu609Asp)
14g.67782907C>TCA7239817ZFYVE26c.4245G>A (p.Glu1415=)
n.4382G>A
c.*2350+192G>A (n.*2350+192G>A)
c.2736G>A (p.Glu912=)
c.1920G>A (p.Glu640=)
c.1827G>A (p.Glu609=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782908T>ACA390170443ZFYVE26c.4244A>T (p.Glu1415Val)
n.4381A>T
c.*2350+191A>T (n.*2350+191A>T)
c.2735A>T (p.Glu912Val)
c.1919A>T (p.Glu640Val)
c.1826A>T (p.Glu609Val)
14g.67782908T>CCA390170444ZFYVE26c.4244A>G (p.Glu1415Gly)
n.4381A>G
c.*2350+191A>G (n.*2350+191A>G)
c.2735A>G (p.Glu912Gly)
c.1919A>G (p.Glu640Gly)
c.1826A>G (p.Glu609Gly)
14g.67782908T>GCA390170445ZFYVE26c.4244A>C (p.Glu1415Ala)
n.4381A>C
c.*2350+191A>C (n.*2350+191A>C)
c.2735A>C (p.Glu912Ala)
c.1919A>C (p.Glu640Ala)
c.1826A>C (p.Glu609Ala)
14g.67782909C>ACA390170450ZFYVE26c.4243G>T (p.Glu1415Ter)
n.4380G>T
c.*2350+190G>T (n.*2350+190G>T)
c.2734G>T (p.Glu912Ter)
c.1918G>T (p.Glu640Ter)
c.1825G>T (p.Glu609Ter)
14g.67782909C>GCA390170452ZFYVE26c.4243G>C (p.Glu1415Gln)
n.4380G>C
c.*2350+190G>C (n.*2350+190G>C)
c.2734G>C (p.Glu912Gln)
c.1918G>C (p.Glu640Gln)
c.1825G>C (p.Glu609Gln)
14g.67782909C>TCA390170448ZFYVE26c.4243G>A (p.Glu1415Lys)
n.4380G>A
c.*2350+190G>A (n.*2350+190G>A)
c.2734G>A (p.Glu912Lys)
c.1918G>A (p.Glu640Lys)
c.1825G>A (p.Glu609Lys)
14g.67782910A>CCA390170454ZFYVE26c.4242T>G (p.Ser1414Arg)
n.4379T>G
c.*2350+189T>G (n.*2350+189T>G)
c.2733T>G (p.Ser911Arg)
c.1917T>G (p.Ser639Arg)
c.1824T>G (p.Ser608Arg)
14g.67782910A>GCA486970641ZFYVE26c.4242T>C (p.Ser1414=)
n.4379T>C
c.*2350+189T>C (n.*2350+189T>C)
c.2733T>C (p.Ser911=)
c.1917T>C (p.Ser639=)
c.1824T>C (p.Ser608=)
14g.67782910A>TCA390170456ZFYVE26c.4242T>A (p.Ser1414Arg)
n.4379T>A
c.*2350+189T>A (n.*2350+189T>A)
c.2733T>A (p.Ser911Arg)
c.1917T>A (p.Ser639Arg)
c.1824T>A (p.Ser608Arg)
14g.67782911C>ACA390170458ZFYVE26c.4241G>T (p.Ser1414Ile)
n.4378G>T
c.*2350+188G>T (n.*2350+188G>T)
c.2732G>T (p.Ser911Ile)
c.1916G>T (p.Ser639Ile)
c.1823G>T (p.Ser608Ile)
14g.67782911C=CA2144027678ZFYVE26c.4241G= (p.Ser1414=)
n.4378G=
c.*2350+188G= (n.*2350+188G=)
c.2732G= (p.Ser911=)
c.1916G= (p.Ser639=)
c.1823G= (p.Ser608=)
14g.67782911C>GCA390170460ZFYVE26c.4241G>C (p.Ser1414Thr)
n.4378G>C
c.*2350+188G>C (n.*2350+188G>C)
c.2732G>C (p.Ser911Thr)
c.1916G>C (p.Ser639Thr)
c.1823G>C (p.Ser608Thr)
14g.67782911C>TCA390170462ZFYVE26c.4241G>A (p.Ser1414Asn)
n.4378G>A
c.*2350+188G>A (n.*2350+188G>A)
c.2732G>A (p.Ser911Asn)
c.1916G>A (p.Ser639Asn)
c.1823G>A (p.Ser608Asn)
 dbSNP
14g.67782912T>ACA390170467ZFYVE26c.4240A>T (p.Ser1414Cys)
n.4377A>T
c.*2350+187A>T (n.*2350+187A>T)
c.2731A>T (p.Ser911Cys)
c.1915A>T (p.Ser639Cys)
c.1822A>T (p.Ser608Cys)
14g.67782912T>CCA390170465ZFYVE26c.4240A>G (p.Ser1414Gly)
n.4377A>G
c.*2350+187A>G (n.*2350+187A>G)
c.2731A>G (p.Ser911Gly)
c.1915A>G (p.Ser639Gly)
c.1822A>G (p.Ser608Gly)
14g.67782912T>GCA390170463ZFYVE26c.4240A>C (p.Ser1414Arg)
n.4377A>C
c.*2350+187A>C (n.*2350+187A>C)
c.2731A>C (p.Ser911Arg)
c.1915A>C (p.Ser639Arg)
c.1822A>C (p.Ser608Arg)
14g.67782913C>ACA486970645ZFYVE26c.4239G>T (p.Leu1413=)
n.4376G>T
c.*2350+186G>T (n.*2350+186G>T)
c.2730G>T (p.Leu910=)
c.1914G>T (p.Leu638=)
c.1821G>T (p.Leu607=)
14g.67782913C=CA2144027679ZFYVE26c.4239G= (p.Leu1413=)
n.4376G=
c.*2350+186G= (n.*2350+186G=)
c.2730G= (p.Leu910=)
c.1914G= (p.Leu638=)
c.1821G= (p.Leu607=)
14g.67782913C>GCA486970646ZFYVE26c.4239G>C (p.Leu1413=)
n.4376G>C
c.*2350+186G>C (n.*2350+186G>C)
c.2730G>C (p.Leu910=)
c.1914G>C (p.Leu638=)
c.1821G>C (p.Leu607=)
14g.67782913C>TCA7239818ZFYVE26c.4239G>A (p.Leu1413=)
n.4376G>A
c.*2350+186G>A (n.*2350+186G>A)
c.2730G>A (p.Leu910=)
c.1914G>A (p.Leu638=)
c.1821G>A (p.Leu607=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782914A=CA2144027680ZFYVE26c.4238T= (p.Leu1413=)
n.4375T=
c.*2350+185T= (n.*2350+185T=)
c.2729T= (p.Leu910=)
c.1913T= (p.Leu638=)
c.1820T= (p.Leu607=)
14g.67782914A>CCA390170471ZFYVE26c.4238T>G (p.Leu1413Arg)
n.4375T>G
c.*2350+185T>G (n.*2350+185T>G)
c.2729T>G (p.Leu910Arg)
c.1913T>G (p.Leu638Arg)
c.1820T>G (p.Leu607Arg)
14g.67782914A>GCA390170472ZFYVE26c.4238T>C (p.Leu1413Pro)
n.4375T>C
c.*2350+185T>C (n.*2350+185T>C)
c.2729T>C (p.Leu910Pro)
c.1913T>C (p.Leu638Pro)
c.1820T>C (p.Leu607Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.67782914A>TCA390170474ZFYVE26c.4238T>A (p.Leu1413Gln)
n.4375T>A
c.*2350+185T>A (n.*2350+185T>A)
c.2729T>A (p.Leu910Gln)
c.1913T>A (p.Leu638Gln)
c.1820T>A (p.Leu607Gln)
14g.67782915G>ACA486970650ZFYVE26c.4237C>T (p.Leu1413=)
n.4374C>T
c.*2350+184C>T (n.*2350+184C>T)
c.2728C>T (p.Leu910=)
c.1912C>T (p.Leu638=)
c.1819C>T (p.Leu607=)
14g.67782915G>CCA390170476ZFYVE26c.4237C>G (p.Leu1413Val)
n.4374C>G
c.*2350+184C>G (n.*2350+184C>G)
c.2728C>G (p.Leu910Val)
c.1912C>G (p.Leu638Val)
c.1819C>G (p.Leu607Val)
14g.67782915G>TCA390170478ZFYVE26c.4237C>A (p.Leu1413Met)
n.4374C>A
c.*2350+184C>A (n.*2350+184C>A)
c.2728C>A (p.Leu910Met)
c.1912C>A (p.Leu638Met)
c.1819C>A (p.Leu607Met)
14g.67782916T>ACA486970653ZFYVE26c.4236A>T (p.Val1412=)
n.4373A>T
c.*2350+183A>T (n.*2350+183A>T)
c.2727A>T (p.Val909=)
c.1911A>T (p.Val637=)
c.1818A>T (p.Val606=)
14g.67782916T>CCA486970654ZFYVE26c.4236A>G (p.Val1412=)
n.4373A>G
c.*2350+183A>G (n.*2350+183A>G)
c.2727A>G (p.Val909=)
c.1911A>G (p.Val637=)
c.1818A>G (p.Val606=)
 ClinVar dbSNP
14g.67782916T>GCA486970651ZFYVE26c.4236A>C (p.Val1412=)
n.4373A>C
c.*2350+183A>C (n.*2350+183A>C)
c.2727A>C (p.Val909=)
c.1911A>C (p.Val637=)
c.1818A>C (p.Val606=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782916T=CA2144027681ZFYVE26c.4236A= (p.Val1412=)
n.4373A=
c.*2350+183A= (n.*2350+183A=)
c.2727A= (p.Val909=)
c.1911A= (p.Val637=)
c.1818A= (p.Val606=)
14g.67782917A=CA2144027682ZFYVE26c.4235T= (p.Val1412=)
n.4372T=
c.*2350+182T= (n.*2350+182T=)
c.2726T= (p.Val909=)
c.1910T= (p.Val637=)
c.1817T= (p.Val606=)
14g.67782917A>CCA390170480ZFYVE26c.4235T>G (p.Val1412Gly)
n.4372T>G
c.*2350+182T>G (n.*2350+182T>G)
c.2726T>G (p.Val909Gly)
c.1910T>G (p.Val637Gly)
c.1817T>G (p.Val606Gly)
14g.67782917A>GCA390170484ZFYVE26c.4235T>C (p.Val1412Ala)
n.4372T>C
c.*2350+182T>C (n.*2350+182T>C)
c.2726T>C (p.Val909Ala)
c.1910T>C (p.Val637Ala)
c.1817T>C (p.Val606Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782917A>TCA390170482ZFYVE26c.4235T>A (p.Val1412Glu)
n.4372T>A
c.*2350+182T>A (n.*2350+182T>A)
c.2726T>A (p.Val909Glu)
c.1910T>A (p.Val637Glu)
c.1817T>A (p.Val606Glu)
14g.67782918C>ACA390170486ZFYVE26c.4234G>T (p.Val1412Leu)
n.4371G>T
c.*2350+181G>T (n.*2350+181G>T)
c.2725G>T (p.Val909Leu)
c.1909G>T (p.Val637Leu)
c.1816G>T (p.Val606Leu)
14g.67782918C>GCA390170488ZFYVE26c.4234G>C (p.Val1412Leu)
n.4371G>C
c.*2350+181G>C (n.*2350+181G>C)
c.2725G>C (p.Val909Leu)
c.1909G>C (p.Val637Leu)
c.1816G>C (p.Val606Leu)
14g.67782918C>TCA390170490ZFYVE26c.4234G>A (p.Val1412Ile)
n.4371G>A
c.*2350+181G>A (n.*2350+181G>A)
c.2725G>A (p.Val909Ile)
c.1909G>A (p.Val637Ile)
c.1816G>A (p.Val606Ile)
14g.67782919A=CA2144027683ZFYVE26c.4233T= (p.Asp1411=)
n.4370T=
c.*2350+180T= (n.*2350+180T=)
c.2724T= (p.Asp908=)
c.1908T= (p.Asp636=)
c.1815T= (p.Asp605=)
14g.67782919A>CCA390170491ZFYVE26c.4233T>G (p.Asp1411Glu)
n.4370T>G
c.*2350+180T>G (n.*2350+180T>G)
c.2724T>G (p.Asp908Glu)
c.1908T>G (p.Asp636Glu)
c.1815T>G (p.Asp605Glu)
 gnomAD v4
14g.67782919A>GCA486970657ZFYVE26c.4233T>C (p.Asp1411=)
n.4370T>C
c.*2350+180T>C (n.*2350+180T>C)
c.2724T>C (p.Asp908=)
c.1908T>C (p.Asp636=)
c.1815T>C (p.Asp605=)
 ClinVar dbSNP
14g.67782919A>TCA390170493ZFYVE26c.4233T>A (p.Asp1411Glu)
n.4370T>A
c.*2350+180T>A (n.*2350+180T>A)
c.2724T>A (p.Asp908Glu)
c.1908T>A (p.Asp636Glu)
c.1815T>A (p.Asp605Glu)
14g.67782920T>ACA390170495ZFYVE26c.4232A>T (p.Asp1411Val)
n.4369A>T
c.*2350+179A>T (n.*2350+179A>T)
c.2723A>T (p.Asp908Val)
c.1907A>T (p.Asp636Val)
c.1814A>T (p.Asp605Val)
14g.67782920T>CCA390170497ZFYVE26c.4232A>G (p.Asp1411Gly)
n.4369A>G
c.*2350+179A>G (n.*2350+179A>G)
c.2723A>G (p.Asp908Gly)
c.1907A>G (p.Asp636Gly)
c.1814A>G (p.Asp605Gly)
14g.67782920T>GCA390170499ZFYVE26c.4232A>C (p.Asp1411Ala)
n.4369A>C
c.*2350+179A>C (n.*2350+179A>C)
c.2723A>C (p.Asp908Ala)
c.1907A>C (p.Asp636Ala)
c.1814A>C (p.Asp605Ala)
 gnomAD v4
14g.67782921C>ACA390170501ZFYVE26c.4231G>T (p.Asp1411Tyr)
n.4368G>T
c.*2350+178G>T (n.*2350+178G>T)
c.2722G>T (p.Asp908Tyr)
c.1906G>T (p.Asp636Tyr)
c.1813G>T (p.Asp605Tyr)
14g.67782921C>GCA390170502ZFYVE26c.4231G>C (p.Asp1411His)
n.4368G>C
c.*2350+178G>C (n.*2350+178G>C)
c.2722G>C (p.Asp908His)
c.1906G>C (p.Asp636His)
c.1813G>C (p.Asp605His)
14g.67782921C>TCA390170504ZFYVE26c.4231G>A (p.Asp1411Asn)
n.4368G>A
c.*2350+178G>A (n.*2350+178G>A)
c.2722G>A (p.Asp908Asn)
c.1906G>A (p.Asp636Asn)
c.1813G>A (p.Asp605Asn)
14g.67782922T>ACA486970661ZFYVE26c.4230A>T (p.Leu1410=)
n.4367A>T
c.*2350+177A>T (n.*2350+177A>T)
c.2721A>T (p.Leu907=)
c.1905A>T (p.Leu635=)
c.1812A>T (p.Leu604=)
14g.67782922T>CCA486970662ZFYVE26c.4230A>G (p.Leu1410=)
n.4367A>G
c.*2350+177A>G (n.*2350+177A>G)
c.2721A>G (p.Leu907=)
c.1905A>G (p.Leu635=)
c.1812A>G (p.Leu604=)
14g.67782922T>GCA486970663ZFYVE26c.4230A>C (p.Leu1410=)
n.4367A>C
c.*2350+177A>C (n.*2350+177A>C)
c.2721A>C (p.Leu907=)
c.1905A>C (p.Leu635=)
c.1812A>C (p.Leu604=)
14g.67782923A=CA2144027684ZFYVE26c.4229T= (p.Leu1410=)
n.4366T=
c.*2350+176T= (n.*2350+176T=)
c.2720T= (p.Leu907=)
c.1904T= (p.Leu635=)
c.1811T= (p.Leu604=)
14g.67782923A>CCA390170510ZFYVE26c.4229T>G (p.Leu1410Arg)
n.4366T>G
c.*2350+176T>G (n.*2350+176T>G)
c.2720T>G (p.Leu907Arg)
c.1904T>G (p.Leu635Arg)
c.1811T>G (p.Leu604Arg)
14g.67782923A>GCA390170509ZFYVE26c.4229T>C (p.Leu1410Pro)
n.4366T>C
c.*2350+176T>C (n.*2350+176T>C)
c.2720T>C (p.Leu907Pro)
c.1904T>C (p.Leu635Pro)
c.1811T>C (p.Leu604Pro)
 COSMIC
14g.67782923A>TCA390170507ZFYVE26c.4229T>A (p.Leu1410Gln)
n.4366T>A
c.*2350+176T>A (n.*2350+176T>A)
c.2720T>A (p.Leu907Gln)
c.1904T>A (p.Leu635Gln)
c.1811T>A (p.Leu604Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.67782924G>ACA486970665ZFYVE26c.4228C>T (p.Leu1410=)
n.4365C>T
c.*2350+175C>T (n.*2350+175C>T)
c.2719C>T (p.Leu907=)
c.1903C>T (p.Leu635=)
c.1810C>T (p.Leu604=)
 ClinVar dbSNP
14g.67782924G>CCA390170512ZFYVE26c.4228C>G (p.Leu1410Val)
n.4365C>G
c.*2350+175C>G (n.*2350+175C>G)
c.2719C>G (p.Leu907Val)
c.1903C>G (p.Leu635Val)
c.1810C>G (p.Leu604Val)
14g.67782924G=CA2144027685ZFYVE26c.4228C= (p.Leu1410=)
n.4365C=
c.*2350+175C= (n.*2350+175C=)
c.2719C= (p.Leu907=)
c.1903C= (p.Leu635=)
c.1810C= (p.Leu604=)
14g.67782924G>TCA390170514ZFYVE26c.4228C>A (p.Leu1410Ile)
n.4365C>A
c.*2350+175C>A (n.*2350+175C>A)
c.2719C>A (p.Leu907Ile)
c.1903C>A (p.Leu635Ile)
c.1810C>A (p.Leu604Ile)
 dbSNP gnomAD v2 gnomAD v4
14g.67782925G>ACA486970666ZFYVE26c.4227C>T (p.Ala1409=)
n.4364C>T
c.*2350+174C>T (n.*2350+174C>T)
c.2718C>T (p.Ala906=)
c.1902C>T (p.Ala634=)
c.1809C>T (p.Ala603=)
 ClinVar gnomAD v4
14g.67782925G>CCA486970667ZFYVE26c.4227C>G (p.Ala1409=)
n.4364C>G
c.*2350+174C>G (n.*2350+174C>G)
c.2718C>G (p.Ala906=)
c.1902C>G (p.Ala634=)
c.1809C>G (p.Ala603=)
14g.67782925G>TCA486970668ZFYVE26c.4227C>A (p.Ala1409=)
n.4364C>A
c.*2350+174C>A (n.*2350+174C>A)
c.2718C>A (p.Ala906=)
c.1902C>A (p.Ala634=)
c.1809C>A (p.Ala603=)
14g.67782926G>ACA390170516ZFYVE26c.4226C>T (p.Ala1409Val)
n.4363C>T
c.*2350+173C>T (n.*2350+173C>T)
c.2717C>T (p.Ala906Val)
c.1901C>T (p.Ala634Val)
c.1808C>T (p.Ala603Val)
14g.67782926G>CCA390170518ZFYVE26c.4226C>G (p.Ala1409Gly)
n.4363C>G
c.*2350+173C>G (n.*2350+173C>G)
c.2717C>G (p.Ala906Gly)
c.1901C>G (p.Ala634Gly)
c.1808C>G (p.Ala603Gly)
14g.67782926G>TCA390170520ZFYVE26c.4226C>A (p.Ala1409Asp)
n.4363C>A
c.*2350+173C>A (n.*2350+173C>A)
c.2717C>A (p.Ala906Asp)
c.1901C>A (p.Ala634Asp)
c.1808C>A (p.Ala603Asp)
14g.67782927C>ACA390170521ZFYVE26c.4225G>T (p.Ala1409Ser)
n.4362G>T
c.*2350+172G>T (n.*2350+172G>T)
c.2716G>T (p.Ala906Ser)
c.1900G>T (p.Ala634Ser)
c.1807G>T (p.Ala603Ser)
 dbSNP
14g.67782927C=CA2144027686ZFYVE26c.4225G= (p.Ala1409=)
n.4362G=
c.*2350+172G= (n.*2350+172G=)
c.2716G= (p.Ala906=)
c.1900G= (p.Ala634=)
c.1807G= (p.Ala603=)
14g.67782927C>GCA390170522ZFYVE26c.4225G>C (p.Ala1409Pro)
n.4362G>C
c.*2350+172G>C (n.*2350+172G>C)
c.2716G>C (p.Ala906Pro)
c.1900G>C (p.Ala634Pro)
c.1807G>C (p.Ala603Pro)
14g.67782927C>TCA390170523ZFYVE26c.4225G>A (p.Ala1409Thr)
n.4362G>A
c.*2350+172G>A (n.*2350+172G>A)
c.2716G>A (p.Ala906Thr)
c.1900G>A (p.Ala634Thr)
c.1807G>A (p.Ala603Thr)
14g.67782928A>CCA390170524ZFYVE26c.4224T>G (p.Ile1408Met)
n.4361T>G
c.*2350+171T>G (n.*2350+171T>G)
c.2715T>G (p.Ile905Met)
c.1899T>G (p.Ile633Met)
c.1806T>G (p.Ile602Met)
14g.67782928A>GCA486970671ZFYVE26c.4224T>C (p.Ile1408=)
n.4361T>C
c.*2350+171T>C (n.*2350+171T>C)
c.2715T>C (p.Ile905=)
c.1899T>C (p.Ile633=)
c.1806T>C (p.Ile602=)
14g.67782928A>TCA486970672ZFYVE26c.4224T>A (p.Ile1408=)
n.4361T>A
c.*2350+171T>A (n.*2350+171T>A)
c.2715T>A (p.Ile905=)
c.1899T>A (p.Ile633=)
c.1806T>A (p.Ile602=)
14g.67782929A=CA2144027687ZFYVE26c.4223T= (p.Ile1408=)
n.4360T=
c.*2350+170T= (n.*2350+170T=)
c.2714T= (p.Ile905=)
c.1898T= (p.Ile633=)
c.1805T= (p.Ile602=)
14g.67782929A>CCA390170526ZFYVE26c.4223T>G (p.Ile1408Ser)
n.4360T>G
c.*2350+170T>G (n.*2350+170T>G)
c.2714T>G (p.Ile905Ser)
c.1898T>G (p.Ile633Ser)
c.1805T>G (p.Ile602Ser)
14g.67782929A>GCA390170528ZFYVE26c.4223T>C (p.Ile1408Thr)
n.4360T>C
c.*2350+170T>C (n.*2350+170T>C)
c.2714T>C (p.Ile905Thr)
c.1898T>C (p.Ile633Thr)
c.1805T>C (p.Ile602Thr)
 dbSNP gnomAD v4
14g.67782929A>TCA390170530ZFYVE26c.4223T>A (p.Ile1408Asn)
n.4360T>A
c.*2350+170T>A (n.*2350+170T>A)
c.2714T>A (p.Ile905Asn)
c.1898T>A (p.Ile633Asn)
c.1805T>A (p.Ile602Asn)
14g.67782930T>ACA390170532ZFYVE26c.4222A>T (p.Ile1408Phe)
n.4359A>T
c.*2350+169A>T (n.*2350+169A>T)
c.2713A>T (p.Ile905Phe)
c.1897A>T (p.Ile633Phe)
c.1804A>T (p.Ile602Phe)
14g.67782930T>CCA390170534ZFYVE26c.4222A>G (p.Ile1408Val)
n.4359A>G
c.*2350+169A>G (n.*2350+169A>G)
c.2713A>G (p.Ile905Val)
c.1897A>G (p.Ile633Val)
c.1804A>G (p.Ile602Val)
 COSMIC
14g.67782930T>GCA390170536ZFYVE26c.4222A>C (p.Ile1408Leu)
n.4359A>C
c.*2350+169A>C (n.*2350+169A>C)
c.2713A>C (p.Ile905Leu)
c.1897A>C (p.Ile633Leu)
c.1804A>C (p.Ile602Leu)
14g.67782930_67782931delinsTGCA2144027688ZFYVE26c.4221_4222delinsCA (p.Pro1407=)
n.4358_4359delinsCA
c.*2350+168_*2350+169delinsCA (n.*2350+168_*2350+169delinsCA)
c.2712_2713delinsCA (p.Pro904=)
c.1896_1897delinsCA (p.Pro632=)
c.1803_1804delinsCA (p.Pro601=)
14g.67782931G>ACA486970674ZFYVE26c.4221C>T (p.Pro1407=)
n.4358C>T
c.*2350+168C>T (n.*2350+168C>T)
c.2712C>T (p.Pro904=)
c.1896C>T (p.Pro632=)
c.1803C>T (p.Pro601=)
 ClinVar dbSNP gnomAD v4
14g.67782931G>CCA486970675ZFYVE26c.4221C>G (p.Pro1407=)
n.4358C>G
c.*2350+168C>G (n.*2350+168C>G)
c.2712C>G (p.Pro904=)
c.1896C>G (p.Pro632=)
c.1803C>G (p.Pro601=)
14g.67782931G>TCA486970677ZFYVE26c.4221C>A (p.Pro1407=)
n.4358C>A
c.*2350+168C>A (n.*2350+168C>A)
c.2712C>A (p.Pro904=)
c.1896C>A (p.Pro632=)
c.1803C>A (p.Pro601=)
14g.67782933delCA919441778ZFYVE26c.4221del (p.Ile1408LeufsTer3)
n.4358del
c.*2350+168del (n.*2350+168del)
c.2712del (p.Ile905LeufsTer3)
c.1896del (p.Ile633LeufsTer3)
c.1803del (p.Ile602LeufsTer3)
 dbSNP
14g.67782932G>ACA390170541ZFYVE26c.4220C>T (p.Pro1407Leu)
n.4357C>T
c.*2350+167C>T (n.*2350+167C>T)
c.2711C>T (p.Pro904Leu)
c.1895C>T (p.Pro632Leu)
c.1802C>T (p.Pro601Leu)
14g.67782932G>CCA390170538ZFYVE26c.4220C>G (p.Pro1407Arg)
n.4357C>G
c.*2350+167C>G (n.*2350+167C>G)
c.2711C>G (p.Pro904Arg)
c.1895C>G (p.Pro632Arg)
c.1802C>G (p.Pro601Arg)
 COSMIC
14g.67782932G>TCA390170540ZFYVE26c.4220C>A (p.Pro1407His)
n.4357C>A
c.*2350+167C>A (n.*2350+167C>A)
c.2711C>A (p.Pro904His)
c.1895C>A (p.Pro632His)
c.1802C>A (p.Pro601His)
14g.67782933G>ACA390170544ZFYVE26c.4219C>T (p.Pro1407Ser)
n.4356C>T
c.*2350+166C>T (n.*2350+166C>T)
c.2710C>T (p.Pro904Ser)
c.1894C>T (p.Pro632Ser)
c.1801C>T (p.Pro601Ser)
 COSMIC
14g.67782933G>CCA390170545ZFYVE26c.4219C>G (p.Pro1407Ala)
n.4356C>G
c.*2350+166C>G (n.*2350+166C>G)
c.2710C>G (p.Pro904Ala)
c.1894C>G (p.Pro632Ala)
c.1801C>G (p.Pro601Ala)
14g.67782933G>TCA390170547ZFYVE26c.4219C>A (p.Pro1407Thr)
n.4356C>A
c.*2350+166C>A (n.*2350+166C>A)
c.2710C>A (p.Pro904Thr)
c.1894C>A (p.Pro632Thr)
c.1801C>A (p.Pro601Thr)
14g.67782934A>CCA486970681ZFYVE26c.4218T>G (p.Ser1406=)
n.4355T>G
c.*2350+165T>G (n.*2350+165T>G)
c.2709T>G (p.Ser903=)
c.1893T>G (p.Ser631=)
c.1800T>G (p.Ser600=)
14g.67782934A>GCA486970683ZFYVE26c.4218T>C (p.Ser1406=)
n.4355T>C
c.*2350+165T>C (n.*2350+165T>C)
c.2709T>C (p.Ser903=)
c.1893T>C (p.Ser631=)
c.1800T>C (p.Ser600=)
14g.67782934A>TCA486970685ZFYVE26c.4218T>A (p.Ser1406=)
n.4355T>A
c.*2350+165T>A (n.*2350+165T>A)
c.2709T>A (p.Ser903=)
c.1893T>A (p.Ser631=)
c.1800T>A (p.Ser600=)
14g.67782935G>ACA390170549ZFYVE26c.4217C>T (p.Ser1406Phe)
n.4354C>T
c.*2350+164C>T (n.*2350+164C>T)
c.2708C>T (p.Ser903Phe)
c.1892C>T (p.Ser631Phe)
c.1799C>T (p.Ser600Phe)
14g.67782935G>CCA390170551ZFYVE26c.4217C>G (p.Ser1406Cys)
n.4354C>G
c.*2350+164C>G (n.*2350+164C>G)
c.2708C>G (p.Ser903Cys)
c.1892C>G (p.Ser631Cys)
c.1799C>G (p.Ser600Cys)
 gnomAD v4
14g.67782935G>TCA390170553ZFYVE26c.4217C>A (p.Ser1406Tyr)
n.4354C>A
c.*2350+164C>A (n.*2350+164C>A)
c.2708C>A (p.Ser903Tyr)
c.1892C>A (p.Ser631Tyr)
c.1799C>A (p.Ser600Tyr)
14g.67782936A>CCA390170554ZFYVE26c.4216T>G (p.Ser1406Ala)
n.4353T>G
c.*2350+163T>G (n.*2350+163T>G)
c.2707T>G (p.Ser903Ala)
c.1891T>G (p.Ser631Ala)
c.1798T>G (p.Ser600Ala)
14g.67782936A>GCA390170555ZFYVE26c.4216T>C (p.Ser1406Pro)
n.4353T>C
c.*2350+163T>C (n.*2350+163T>C)
c.2707T>C (p.Ser903Pro)
c.1891T>C (p.Ser631Pro)
c.1798T>C (p.Ser600Pro)
14g.67782936A>TCA390170557ZFYVE26c.4216T>A (p.Ser1406Thr)
n.4353T>A
c.*2350+163T>A (n.*2350+163T>A)
c.2707T>A (p.Ser903Thr)
c.1891T>A (p.Ser631Thr)
c.1798T>A (p.Ser600Thr)
14g.67782937A=CA2144027689ZFYVE26c.4215T= (p.His1405=)
n.4352T=
c.*2350+162T= (n.*2350+162T=)
c.2706T= (p.His902=)
c.1890T= (p.His630=)
c.1797T= (p.His599=)
14g.67782937A>CCA390170559ZFYVE26c.4215T>G (p.His1405Gln)
n.4352T>G
c.*2350+162T>G (n.*2350+162T>G)
c.2706T>G (p.His902Gln)
c.1890T>G (p.His630Gln)
c.1797T>G (p.His599Gln)
14g.67782937A>GCA486970690ZFYVE26c.4215T>C (p.His1405=)
n.4352T>C
c.*2350+162T>C (n.*2350+162T>C)
c.2706T>C (p.His902=)
c.1890T>C (p.His630=)
c.1797T>C (p.His599=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782937A>TCA390170560ZFYVE26c.4215T>A (p.His1405Gln)
n.4352T>A
c.*2350+162T>A (n.*2350+162T>A)
c.2706T>A (p.His902Gln)
c.1890T>A (p.His630Gln)
c.1797T>A (p.His599Gln)
14g.67782938T>ACA390170567ZFYVE26c.4214A>T (p.His1405Leu)
n.4351A>T
c.*2350+161A>T (n.*2350+161A>T)
c.2705A>T (p.His902Leu)
c.1889A>T (p.His630Leu)
c.1796A>T (p.His599Leu)
 gnomAD v4
14g.67782938T>CCA390170565ZFYVE26c.4214A>G (p.His1405Arg)
n.4351A>G
c.*2350+161A>G (n.*2350+161A>G)
c.2705A>G (p.His902Arg)
c.1889A>G (p.His630Arg)
c.1796A>G (p.His599Arg)
 gnomAD v4 COSMIC
14g.67782938T>GCA390170563ZFYVE26c.4214A>C (p.His1405Pro)
n.4351A>C
c.*2350+161A>C (n.*2350+161A>C)
c.2705A>C (p.His902Pro)
c.1889A>C (p.His630Pro)
c.1796A>C (p.His599Pro)
14g.67782939G>ACA390170569ZFYVE26c.4213C>T (p.His1405Tyr)
n.4350C>T
c.*2350+160C>T (n.*2350+160C>T)
c.2704C>T (p.His902Tyr)
c.1888C>T (p.His630Tyr)
c.1795C>T (p.His599Tyr)
 gnomAD v4
14g.67782939G>CCA390170571ZFYVE26c.4213C>G (p.His1405Asp)
n.4350C>G
c.*2350+160C>G (n.*2350+160C>G)
c.2704C>G (p.His902Asp)
c.1888C>G (p.His630Asp)
c.1795C>G (p.His599Asp)
14g.67782939G>TCA390170572ZFYVE26c.4213C>A (p.His1405Asn)
n.4350C>A
c.*2350+160C>A (n.*2350+160C>A)
c.2704C>A (p.His902Asn)
c.1888C>A (p.His630Asn)
c.1795C>A (p.His599Asn)
14g.67782940T>ACA7239819ZFYVE26c.4212A>T (p.Leu1404=)
n.4349A>T
c.*2350+159A>T (n.*2350+159A>T)
c.2703A>T (p.Leu901=)
c.1887A>T (p.Leu629=)
c.1794A>T (p.Leu598=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782940T>CCA486970691ZFYVE26c.4212A>G (p.Leu1404=)
n.4349A>G
c.*2350+159A>G (n.*2350+159A>G)
c.2703A>G (p.Leu901=)
c.1887A>G (p.Leu629=)
c.1794A>G (p.Leu598=)
 dbSNP gnomAD v2 gnomAD v4
14g.67782940T>GCA486970692ZFYVE26c.4212A>C (p.Leu1404=)
n.4349A>C
c.*2350+159A>C (n.*2350+159A>C)
c.2703A>C (p.Leu901=)
c.1887A>C (p.Leu629=)
c.1794A>C (p.Leu598=)
14g.67782940T=CA2144027690ZFYVE26c.4212A= (p.Leu1404=)
n.4349A=
c.*2350+159A= (n.*2350+159A=)
c.2703A= (p.Leu901=)
c.1887A= (p.Leu629=)
c.1794A= (p.Leu598=)
14g.67782941A=CA2144027691ZFYVE26c.4211T= (p.Leu1404=)
n.4348T=
c.*2350+158T= (n.*2350+158T=)
c.2702T= (p.Leu901=)
c.1886T= (p.Leu629=)
c.1793T= (p.Leu598=)
14g.67782941A>CCA390170576ZFYVE26c.4211T>G (p.Leu1404Arg)
n.4348T>G
c.*2350+158T>G (n.*2350+158T>G)
c.2702T>G (p.Leu901Arg)
c.1886T>G (p.Leu629Arg)
c.1793T>G (p.Leu598Arg)
14g.67782941A>GCA390170577ZFYVE26c.4211T>C (p.Leu1404Pro)
n.4348T>C
c.*2350+158T>C (n.*2350+158T>C)
c.2702T>C (p.Leu901Pro)
c.1886T>C (p.Leu629Pro)
c.1793T>C (p.Leu598Pro)
 dbSNP
14g.67782941A>TCA390170580ZFYVE26c.4211T>A (p.Leu1404Gln)
n.4348T>A
c.*2350+158T>A (n.*2350+158T>A)
c.2702T>A (p.Leu901Gln)
c.1886T>A (p.Leu629Gln)
c.1793T>A (p.Leu598Gln)
14g.67782942G>ACA486970693ZFYVE26c.4210C>T (p.Leu1404=)
n.4347C>T
c.*2350+157C>T (n.*2350+157C>T)
c.2701C>T (p.Leu901=)
c.1885C>T (p.Leu629=)
c.1792C>T (p.Leu598=)
14g.67782942G>CCA390170582ZFYVE26c.4210C>G (p.Leu1404Val)
n.4347C>G
c.*2350+157C>G (n.*2350+157C>G)
c.2701C>G (p.Leu901Val)
c.1885C>G (p.Leu629Val)
c.1792C>G (p.Leu598Val)
14g.67782942G>TCA390170584ZFYVE26c.4210C>A (p.Leu1404Ile)
n.4347C>A
c.*2350+157C>A (n.*2350+157C>A)
c.2701C>A (p.Leu901Ile)
c.1885C>A (p.Leu629Ile)
c.1792C>A (p.Leu598Ile)
14g.67782943G>ACA486970695ZFYVE26c.4209C>T (p.Gly1403=)
n.4346C>T
c.*2350+156C>T (n.*2350+156C>T)
c.2700C>T (p.Gly900=)
c.1884C>T (p.Gly628=)
c.1791C>T (p.Gly597=)
14g.67782943G>CCA486970696ZFYVE26c.4209C>G (p.Gly1403=)
n.4346C>G
c.*2350+156C>G (n.*2350+156C>G)
c.2700C>G (p.Gly900=)
c.1884C>G (p.Gly628=)
c.1791C>G (p.Gly597=)
14g.67782943G>TCA486970697ZFYVE26c.4209C>A (p.Gly1403=)
n.4346C>A
c.*2350+156C>A (n.*2350+156C>A)
c.2700C>A (p.Gly900=)
c.1884C>A (p.Gly628=)
c.1791C>A (p.Gly597=)
14g.67782944C>ACA390170586ZFYVE26c.4208G>T (p.Gly1403Val)
n.4345G>T
c.*2350+155G>T (n.*2350+155G>T)
c.2699G>T (p.Gly900Val)
c.1883G>T (p.Gly628Val)
c.1790G>T (p.Gly597Val)
14g.67782944C>GCA390170587ZFYVE26c.4208G>C (p.Gly1403Ala)
n.4345G>C
c.*2350+155G>C (n.*2350+155G>C)
c.2699G>C (p.Gly900Ala)
c.1883G>C (p.Gly628Ala)
c.1790G>C (p.Gly597Ala)
14g.67782944C>TCA390170589ZFYVE26c.4208G>A (p.Gly1403Asp)
n.4345G>A
c.*2350+155G>A (n.*2350+155G>A)
c.2699G>A (p.Gly900Asp)
c.1883G>A (p.Gly628Asp)
c.1790G>A (p.Gly597Asp)
14g.67782945C>ACA390170593ZFYVE26c.4207G>T (p.Gly1403Cys)
n.4344G>T
c.*2350+154G>T (n.*2350+154G>T)
c.2698G>T (p.Gly900Cys)
c.1882G>T (p.Gly628Cys)
c.1789G>T (p.Gly597Cys)
 dbSNP gnomAD v3 gnomAD v4
14g.67782945C=CA2144027692ZFYVE26c.4207G= (p.Gly1403=)
n.4344G=
c.*2350+154G= (n.*2350+154G=)
c.2698G= (p.Gly900=)
c.1882G= (p.Gly628=)
c.1789G= (p.Gly597=)
14g.67782945C>GCA390170594ZFYVE26c.4207G>C (p.Gly1403Arg)
n.4344G>C
c.*2350+154G>C (n.*2350+154G>C)
c.2698G>C (p.Gly900Arg)
c.1882G>C (p.Gly628Arg)
c.1789G>C (p.Gly597Arg)
14g.67782945C>TCA390170591ZFYVE26c.4207G>A (p.Gly1403Ser)
n.4344G>A
c.*2350+154G>A (n.*2350+154G>A)
c.2698G>A (p.Gly900Ser)
c.1882G>A (p.Gly628Ser)
c.1789G>A (p.Gly597Ser)
14g.67782946C>ACA486970699ZFYVE26c.4206G>T (p.Leu1402=)
n.4343G>T
c.*2350+153G>T (n.*2350+153G>T)
c.2697G>T (p.Leu899=)
c.1881G>T (p.Leu627=)
c.1788G>T (p.Leu596=)
14g.67782946C=CA2144027693ZFYVE26c.4206G= (p.Leu1402=)
n.4343G=
c.*2350+153G= (n.*2350+153G=)
c.2697G= (p.Leu899=)
c.1881G= (p.Leu627=)
c.1788G= (p.Leu596=)
14g.67782946C>GCA486970701ZFYVE26c.4206G>C (p.Leu1402=)
n.4343G>C
c.*2350+153G>C (n.*2350+153G>C)
c.2697G>C (p.Leu899=)
c.1881G>C (p.Leu627=)
c.1788G>C (p.Leu596=)
14g.67782946C>TCA486970702ZFYVE26c.4206G>A (p.Leu1402=)
n.4343G>A
c.*2350+153G>A (n.*2350+153G>A)
c.2697G>A (p.Leu899=)
c.1881G>A (p.Leu627=)
c.1788G>A (p.Leu596=)
 dbSNP
14g.67782947A=CA2144027694ZFYVE26c.4205T= (p.Leu1402=)
n.4342T=
c.*2350+152T= (n.*2350+152T=)
c.2696T= (p.Leu899=)
c.1880T= (p.Leu627=)
c.1787T= (p.Leu596=)
14g.67782947A>CCA390170595ZFYVE26c.4205T>G (p.Leu1402Arg)
n.4342T>G
c.*2350+152T>G (n.*2350+152T>G)
c.2696T>G (p.Leu899Arg)
c.1880T>G (p.Leu627Arg)
c.1787T>G (p.Leu596Arg)
14g.67782947A>GCA390170596ZFYVE26c.4205T>C (p.Leu1402Pro)
n.4342T>C
c.*2350+152T>C (n.*2350+152T>C)
c.2696T>C (p.Leu899Pro)
c.1880T>C (p.Leu627Pro)
c.1787T>C (p.Leu596Pro)
 dbSNP gnomAD v4
14g.67782947A>TCA390170597ZFYVE26c.4205T>A (p.Leu1402Gln)
n.4342T>A
c.*2350+152T>A (n.*2350+152T>A)
c.2696T>A (p.Leu899Gln)
c.1880T>A (p.Leu627Gln)
c.1787T>A (p.Leu596Gln)
14g.67782948G>ACA486970703ZFYVE26c.4204C>T (p.Leu1402=)
n.4341C>T
c.*2350+151C>T (n.*2350+151C>T)
c.2695C>T (p.Leu899=)
c.1879C>T (p.Leu627=)
c.1786C>T (p.Leu596=)
14g.67782948G>CCA390170599ZFYVE26c.4204C>G (p.Leu1402Val)
n.4341C>G
c.*2350+151C>G (n.*2350+151C>G)
c.2695C>G (p.Leu899Val)
c.1879C>G (p.Leu627Val)
c.1786C>G (p.Leu596Val)
14g.67782948G>TCA390170600ZFYVE26c.4204C>A (p.Leu1402Met)
n.4341C>A
c.*2350+151C>A (n.*2350+151C>A)
c.2695C>A (p.Leu899Met)
c.1879C>A (p.Leu627Met)
c.1786C>A (p.Leu596Met)
14g.67782949G>ACA262848639ZFYVE26c.4203C>T (p.Leu1401=)
n.4340C>T
c.*2350+150C>T (n.*2350+150C>T)
c.2694C>T (p.Leu898=)
c.1878C>T (p.Leu626=)
c.1785C>T (p.Leu595=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.67782949G>CCA486970708ZFYVE26c.4203C>G (p.Leu1401=)
n.4340C>G
c.*2350+150C>G (n.*2350+150C>G)
c.2694C>G (p.Leu898=)
c.1878C>G (p.Leu626=)
c.1785C>G (p.Leu595=)
14g.67782949G=CA2144027695ZFYVE26c.4203C= (p.Leu1401=)
n.4340C=
c.*2350+150C= (n.*2350+150C=)
c.2694C= (p.Leu898=)
c.1878C= (p.Leu626=)
c.1785C= (p.Leu595=)
14g.67782949G>TCA486970707ZFYVE26c.4203C>A (p.Leu1401=)
n.4340C>A
c.*2350+150C>A (n.*2350+150C>A)
c.2694C>A (p.Leu898=)
c.1878C>A (p.Leu626=)
c.1785C>A (p.Leu595=)
14g.67782950A>CCA390170607ZFYVE26c.4202T>G (p.Leu1401Arg)
n.4339T>G
c.*2350+149T>G (n.*2350+149T>G)
c.2693T>G (p.Leu898Arg)
c.1877T>G (p.Leu626Arg)
c.1784T>G (p.Leu595Arg)
 gnomAD v4
14g.67782950A>GCA390170602ZFYVE26c.4202T>C (p.Leu1401Pro)
n.4339T>C
c.*2350+149T>C (n.*2350+149T>C)
c.2693T>C (p.Leu898Pro)
c.1877T>C (p.Leu626Pro)
c.1784T>C (p.Leu595Pro)
14g.67782950A>TCA390170604ZFYVE26c.4202T>A (p.Leu1401His)
n.4339T>A
c.*2350+149T>A (n.*2350+149T>A)
c.2693T>A (p.Leu898His)
c.1877T>A (p.Leu626His)
c.1784T>A (p.Leu595His)
14g.67782951G>ACA390170608ZFYVE26c.4201C>T (p.Leu1401Phe)
n.4338C>T
c.*2350+148C>T (n.*2350+148C>T)
c.2692C>T (p.Leu898Phe)
c.1876C>T (p.Leu626Phe)
c.1783C>T (p.Leu595Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.67782951G>CCA390170610ZFYVE26c.4201C>G (p.Leu1401Val)
n.4338C>G
c.*2350+148C>G (n.*2350+148C>G)
c.2692C>G (p.Leu898Val)
c.1876C>G (p.Leu626Val)
c.1783C>G (p.Leu595Val)
 gnomAD v4
14g.67782951G=CA2144027696ZFYVE26c.4201C= (p.Leu1401=)
n.4338C=
c.*2350+148C= (n.*2350+148C=)
c.2692C= (p.Leu898=)
c.1876C= (p.Leu626=)
c.1783C= (p.Leu595=)
14g.67782951G>TCA390170612ZFYVE26c.4201C>A (p.Leu1401Ile)
n.4338C>A
c.*2350+148C>A (n.*2350+148C>A)
c.2692C>A (p.Leu898Ile)
c.1876C>A (p.Leu626Ile)
c.1783C>A (p.Leu595Ile)
14g.67782952A>CCA486970713ZFYVE26c.4200T>G (p.Val1400=)
n.4337T>G
c.*2350+147T>G (n.*2350+147T>G)
c.2691T>G (p.Val897=)
c.1875T>G (p.Val625=)
c.1782T>G (p.Val594=)
14g.67782952A>GCA486970714ZFYVE26c.4200T>C (p.Val1400=)
n.4337T>C
c.*2350+147T>C (n.*2350+147T>C)
c.2691T>C (p.Val897=)
c.1875T>C (p.Val625=)
c.1782T>C (p.Val594=)
 gnomAD v4
14g.67782952A>TCA486970715ZFYVE26c.4200T>A (p.Val1400=)
n.4337T>A
c.*2350+147T>A (n.*2350+147T>A)
c.2691T>A (p.Val897=)
c.1875T>A (p.Val625=)
c.1782T>A (p.Val594=)
14g.67782953A>CCA390170613ZFYVE26c.4199T>G (p.Val1400Gly)
n.4336T>G
c.*2350+146T>G (n.*2350+146T>G)
c.2690T>G (p.Val897Gly)
c.1874T>G (p.Val625Gly)
c.1781T>G (p.Val594Gly)
14g.67782953A>GCA390170614ZFYVE26c.4199T>C (p.Val1400Ala)
n.4336T>C
c.*2350+146T>C (n.*2350+146T>C)
c.2690T>C (p.Val897Ala)
c.1874T>C (p.Val625Ala)
c.1781T>C (p.Val594Ala)
14g.67782953A>TCA390170616ZFYVE26c.4199T>A (p.Val1400Asp)
n.4336T>A
c.*2350+146T>A (n.*2350+146T>A)
c.2690T>A (p.Val897Asp)
c.1874T>A (p.Val625Asp)
c.1781T>A (p.Val594Asp)
14g.67782954C>ACA390170620ZFYVE26c.4198G>T (p.Val1400Phe)
n.4335G>T
c.*2350+145G>T (n.*2350+145G>T)
c.2689G>T (p.Val897Phe)
c.1873G>T (p.Val625Phe)
c.1780G>T (p.Val594Phe)
 dbSNP gnomAD v4
14g.67782954C=CA2144027697ZFYVE26c.4198G= (p.Val1400=)
n.4335G=
c.*2350+145G= (n.*2350+145G=)
c.2689G= (p.Val897=)
c.1873G= (p.Val625=)
c.1780G= (p.Val594=)
14g.67782954C>GCA390170622ZFYVE26c.4198G>C (p.Val1400Leu)
n.4335G>C
c.*2350+145G>C (n.*2350+145G>C)
c.2689G>C (p.Val897Leu)
c.1873G>C (p.Val625Leu)
c.1780G>C (p.Val594Leu)
14g.67782954C>TCA7239820ZFYVE26c.4198G>A (p.Val1400Ile)
n.4335G>A
c.*2350+145G>A (n.*2350+145G>A)
c.2689G>A (p.Val897Ile)
c.1873G>A (p.Val625Ile)
c.1780G>A (p.Val594Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782955G>ACA206139ZFYVE26c.4197C>T (p.Thr1399=)
n.4334C>T
c.*2350+144C>T (n.*2350+144C>T)
c.2688C>T (p.Thr896=)
c.1872C>T (p.Thr624=)
c.1779C>T (p.Thr593=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782955G>CCA486970720ZFYVE26c.4197C>G (p.Thr1399=)
n.4334C>G
c.*2350+144C>G (n.*2350+144C>G)
c.2688C>G (p.Thr896=)
c.1872C>G (p.Thr624=)
c.1779C>G (p.Thr593=)
14g.67782955G=CA2144027698ZFYVE26c.4197C= (p.Thr1399=)
n.4334C=
c.*2350+144C= (n.*2350+144C=)
c.2688C= (p.Thr896=)
c.1872C= (p.Thr624=)
c.1779C= (p.Thr593=)
14g.67782955G>TCA7239821ZFYVE26c.4197C>A (p.Thr1399=)
n.4334C>A
c.*2350+144C>A (n.*2350+144C>A)
c.2688C>A (p.Thr896=)
c.1872C>A (p.Thr624=)
c.1779C>A (p.Thr593=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.67782956G>ACA390170631ZFYVE26c.4196C>T (p.Thr1399Ile)
n.4333C>T
c.*2350+143C>T (n.*2350+143C>T)
c.2687C>T (p.Thr896Ile)
c.1871C>T (p.Thr624Ile)
c.1778C>T (p.Thr593Ile)
14g.67782956G>CCA390170635ZFYVE26c.4196C>G (p.Thr1399Ser)
n.4333C>G
c.*2350+143C>G (n.*2350+143C>G)
c.2687C>G (p.Thr896Ser)
c.1871C>G (p.Thr624Ser)
c.1778C>G (p.Thr593Ser)
14g.67782956G>TCA390170633ZFYVE26c.4196C>A (p.Thr1399Asn)
n.4333C>A
c.*2350+143C>A (n.*2350+143C>A)
c.2687C>A (p.Thr896Asn)
c.1871C>A (p.Thr624Asn)
c.1778C>A (p.Thr593Asn)
14g.67782957T>ACA390170637ZFYVE26c.4195A>T (p.Thr1399Ser)
n.4332A>T
c.*2350+142A>T (n.*2350+142A>T)
c.2686A>T (p.Thr896Ser)
c.1870A>T (p.Thr624Ser)
c.1777A>T (p.Thr593Ser)
14g.67782957T>CCA390170642ZFYVE26c.4195A>G (p.Thr1399Ala)
n.4332A>G
c.*2350+142A>G (n.*2350+142A>G)
c.2686A>G (p.Thr896Ala)
c.1870A>G (p.Thr624Ala)
c.1777A>G (p.Thr593Ala)
 dbSNP gnomAD v2 gnomAD v4
14g.67782957T>GCA390170640ZFYVE26c.4195A>C (p.Thr1399Pro)
n.4332A>C
c.*2350+142A>C (n.*2350+142A>C)
c.2686A>C (p.Thr896Pro)
c.1870A>C (p.Thr624Pro)
c.1777A>C (p.Thr593Pro)
14g.67782957T=CA2144027699ZFYVE26c.4195A= (p.Thr1399=)
n.4332A=
c.*2350+142A= (n.*2350+142A=)
c.2686A= (p.Thr896=)
c.1870A= (p.Thr624=)
c.1777A= (p.Thr593=)
14g.67782958A>CCA486970721ZFYVE26c.4194T>G (p.Ser1398=)
n.4331T>G
c.*2350+141T>G (n.*2350+141T>G)
c.2685T>G (p.Ser895=)
c.1869T>G (p.Ser623=)
c.1776T>G (p.Ser592=)
14g.67782958A>GCA486970722ZFYVE26c.4194T>C (p.Ser1398=)
n.4331T>C
c.*2350+141T>C (n.*2350+141T>C)
c.2685T>C (p.Ser895=)
c.1869T>C (p.Ser623=)
c.1776T>C (p.Ser592=)
14g.67782958A>TCA486970723ZFYVE26c.4194T>A (p.Ser1398=)
n.4331T>A
c.*2350+141T>A (n.*2350+141T>A)
c.2685T>A (p.Ser895=)
c.1869T>A (p.Ser623=)
c.1776T>A (p.Ser592=)
14g.67782959G>ACA390170643ZFYVE26c.4193C>T (p.Ser1398Phe)
n.4330C>T
c.*2350+140C>T (n.*2350+140C>T)
c.2684C>T (p.Ser895Phe)
c.1868C>T (p.Ser623Phe)
c.1775C>T (p.Ser592Phe)
14g.67782959G>CCA390170644ZFYVE26c.4193C>G (p.Ser1398Cys)
n.4330C>G
c.*2350+140C>G (n.*2350+140C>G)
c.2684C>G (p.Ser895Cys)
c.1868C>G (p.Ser623Cys)
c.1775C>G (p.Ser592Cys)
14g.67782959G>TCA390170645ZFYVE26c.4193C>A (p.Ser1398Tyr)
n.4330C>A
c.*2350+140C>A (n.*2350+140C>A)
c.2684C>A (p.Ser895Tyr)
c.1868C>A (p.Ser623Tyr)
c.1775C>A (p.Ser592Tyr)
14g.67782960A>CCA390170646ZFYVE26c.4192T>G (p.Ser1398Ala)
n.4329T>G
c.*2350+139T>G (n.*2350+139T>G)
c.2683T>G (p.Ser895Ala)
c.1867T>G (p.Ser623Ala)
c.1774T>G (p.Ser592Ala)
14g.67782960A>GCA390170647ZFYVE26c.4192T>C (p.Ser1398Pro)
n.4329T>C
c.*2350+139T>C (n.*2350+139T>C)
c.2683T>C (p.Ser895Pro)
c.1867T>C (p.Ser623Pro)
c.1774T>C (p.Ser592Pro)
14g.67782960A>TCA390170648ZFYVE26c.4192T>A (p.Ser1398Thr)
n.4329T>A
c.*2350+139T>A (n.*2350+139T>A)
c.2683T>A (p.Ser895Thr)
c.1867T>A (p.Ser623Thr)
c.1774T>A (p.Ser592Thr)
14g.67782961A>CCA486970724ZFYVE26c.4191T>G (p.Leu1397=)
n.4328T>G
c.*2350+138T>G (n.*2350+138T>G)
c.2682T>G (p.Leu894=)
c.1866T>G (p.Leu622=)
c.1773T>G (p.Leu591=)
 gnomAD v4
14g.67782961A>GCA486970725ZFYVE26c.4191T>C (p.Leu1397=)
n.4328T>C
c.*2350+138T>C (n.*2350+138T>C)
c.2682T>C (p.Leu894=)
c.1866T>C (p.Leu622=)
c.1773T>C (p.Leu591=)
14g.67782961A>TCA486970726ZFYVE26c.4191T>A (p.Leu1397=)
n.4328T>A
c.*2350+138T>A (n.*2350+138T>A)
c.2682T>A (p.Leu894=)
c.1866T>A (p.Leu622=)
c.1773T>A (p.Leu591=)
14g.67782962A>CCA390170649ZFYVE26c.4190T>G (p.Leu1397Arg)
n.4327T>G
c.*2350+137T>G (n.*2350+137T>G)
c.2681T>G (p.Leu894Arg)
c.1865T>G (p.Leu622Arg)
c.1772T>G (p.Leu591Arg)
 gnomAD v4
14g.67782962A>GCA390170650ZFYVE26c.4190T>C (p.Leu1397Pro)
n.4327T>C
c.*2350+137T>C (n.*2350+137T>C)
c.2681T>C (p.Leu894Pro)
c.1865T>C (p.Leu622Pro)
c.1772T>C (p.Leu591Pro)
14g.67782962A>TCA390170651ZFYVE26c.4190T>A (p.Leu1397His)
n.4327T>A
c.*2350+137T>A (n.*2350+137T>A)
c.2681T>A (p.Leu894His)
c.1865T>A (p.Leu622His)
c.1772T>A (p.Leu591His)
14g.67782962_67782966delinsAGACTCA2144027700ZFYVE26c.4186_4190delinsAGTCT (p.Ser1396=)
n.4323_4327delinsAGTCT
c.*2350+133_*2350+137delinsAGTCT (n.*2350+133_*2350+137delinsAGTCT)
c.2677_2681delinsAGTCT (p.Ser893=)
c.1861_1865delinsAGTCT (p.Ser621=)
c.1768_1772delinsAGTCT (p.Ser590=)
14g.67782963G>ACA390170652ZFYVE26c.4189C>T (p.Leu1397Phe)
n.4326C>T
c.*2350+136C>T (n.*2350+136C>T)
c.2680C>T (p.Leu894Phe)
c.1864C>T (p.Leu622Phe)
c.1771C>T (p.Leu591Phe)
14g.67782963G>CCA390170653ZFYVE26c.4189C>G (p.Leu1397Val)
n.4326C>G
c.*2350+136C>G (n.*2350+136C>G)
c.2680C>G (p.Leu894Val)
c.1864C>G (p.Leu622Val)
c.1771C>G (p.Leu591Val)
14g.67782963G>TCA390170654ZFYVE26c.4189C>A (p.Leu1397Ile)
n.4326C>A
c.*2350+136C>A (n.*2350+136C>A)
c.2680C>A (p.Leu894Ile)
c.1864C>A (p.Leu622Ile)
c.1771C>A (p.Leu591Ile)
14g.67782964_67782967delCA615188407ZFYVE26c.4186_4189del (p.Ser1396PhefsTer14)
n.4323_4326del
c.*2350+133_*2350+136del (n.*2350+133_*2350+136del)
c.2677_2680del (p.Ser893PhefsTer14)
c.1861_1864del (p.Ser621PhefsTer14)
c.1768_1771del (p.Ser590PhefsTer14)
 dbSNP gnomAD v2 gnomAD v4
14g.67782964A>CCA390170655ZFYVE26c.4188T>G (p.Ser1396Arg)
n.4325T>G
c.*2350+135T>G (n.*2350+135T>G)
c.2679T>G (p.Ser893Arg)
c.1863T>G (p.Ser621Arg)
c.1770T>G (p.Ser590Arg)
14g.67782964A>GCA486970727ZFYVE26c.4188T>C (p.Ser1396=)
n.4325T>C
c.*2350+135T>C (n.*2350+135T>C)
c.2679T>C (p.Ser893=)
c.1863T>C (p.Ser621=)
c.1770T>C (p.Ser590=)
14g.67782964A>TCA390170656ZFYVE26c.4188T>A (p.Ser1396Arg)
n.4325T>A
c.*2350+135T>A (n.*2350+135T>A)
c.2679T>A (p.Ser893Arg)
c.1863T>A (p.Ser621Arg)
c.1770T>A (p.Ser590Arg)
14g.67782965C>ACA390170657ZFYVE26c.4187G>T (p.Ser1396Ile)
n.4324G>T
c.*2350+134G>T (n.*2350+134G>T)
c.2678G>T (p.Ser893Ile)
c.1862G>T (p.Ser621Ile)
c.1769G>T (p.Ser590Ile)
14g.67782965C>GCA390170658ZFYVE26c.4187G>C (p.Ser1396Thr)
n.4324G>C
c.*2350+134G>C (n.*2350+134G>C)
c.2678G>C (p.Ser893Thr)
c.1862G>C (p.Ser621Thr)
c.1769G>C (p.Ser590Thr)
14g.67782965C>TCA390170659ZFYVE26c.4187G>A (p.Ser1396Asn)
n.4324G>A
c.*2350+134G>A (n.*2350+134G>A)
c.2678G>A (p.Ser893Asn)
c.1862G>A (p.Ser621Asn)
c.1769G>A (p.Ser590Asn)
14g.67782966T>ACA390170660ZFYVE26c.4186A>T (p.Ser1396Cys)
n.4323A>T
c.*2350+133A>T (n.*2350+133A>T)
c.2677A>T (p.Ser893Cys)
c.1861A>T (p.Ser621Cys)
c.1768A>T (p.Ser590Cys)
14g.67782966T>CCA390170661ZFYVE26c.4186A>G (p.Ser1396Gly)
n.4323A>G
c.*2350+133A>G (n.*2350+133A>G)
c.2677A>G (p.Ser893Gly)
c.1861A>G (p.Ser621Gly)
c.1768A>G (p.Ser590Gly)
14g.67782966T>GCA390170662ZFYVE26c.4186A>C (p.Ser1396Arg)
n.4323A>C
c.*2350+133A>C (n.*2350+133A>C)
c.2677A>C (p.Ser893Arg)
c.1861A>C (p.Ser621Arg)
c.1768A>C (p.Ser590Arg)
14g.67782967G>ACA486970728ZFYVE26c.4185C>T (p.Ala1395=)
n.4322C>T
c.*2350+132C>T (n.*2350+132C>T)
c.2676C>T (p.Ala892=)
c.1860C>T (p.Ala620=)
c.1767C>T (p.Ala589=)
14g.67782967G>CCA486970729ZFYVE26c.4185C>G (p.Ala1395=)
n.4322C>G
c.*2350+132C>G (n.*2350+132C>G)
c.2676C>G (p.Ala892=)
c.1860C>G (p.Ala620=)
c.1767C>G (p.Ala589=)
14g.67782967G=CA2144027701ZFYVE26c.4185C= (p.Ala1395=)
n.4322C=
c.*2350+132C= (n.*2350+132C=)
c.2676C= (p.Ala892=)
c.1860C= (p.Ala620=)
c.1767C= (p.Ala589=)
14g.67782967G>TCA7239822ZFYVE26c.4185C>A (p.Ala1395=)
n.4322C>A
c.*2350+132C>A (n.*2350+132C>A)
c.2676C>A (p.Ala892=)
c.1860C>A (p.Ala620=)
c.1767C>A (p.Ala589=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782968G>ACA7239823ZFYVE26c.4184C>T (p.Ala1395Val)
n.4321C>T
c.*2350+131C>T (n.*2350+131C>T)
c.2675C>T (p.Ala892Val)
c.1859C>T (p.Ala620Val)
c.1766C>T (p.Ala589Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782968G>CCA7239824ZFYVE26c.4184C>G (p.Ala1395Gly)
n.4321C>G
c.*2350+131C>G (n.*2350+131C>G)
c.2675C>G (p.Ala892Gly)
c.1859C>G (p.Ala620Gly)
c.1766C>G (p.Ala589Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782968G=CA2144027702ZFYVE26c.4184C= (p.Ala1395=)
n.4321C=
c.*2350+131C= (n.*2350+131C=)
c.2675C= (p.Ala892=)
c.1859C= (p.Ala620=)
c.1766C= (p.Ala589=)
14g.67782968G>TCA390170663ZFYVE26c.4184C>A (p.Ala1395Asp)
n.4321C>A
c.*2350+131C>A (n.*2350+131C>A)
c.2675C>A (p.Ala892Asp)
c.1859C>A (p.Ala620Asp)
c.1766C>A (p.Ala589Asp)
14g.67782969C>ACA390170666ZFYVE26c.4183G>T (p.Ala1395Ser)
n.4320G>T
c.*2350+130G>T (n.*2350+130G>T)
c.2674G>T (p.Ala892Ser)
c.1858G>T (p.Ala620Ser)
c.1765G>T (p.Ala589Ser)
14g.67782969C>GCA390170665ZFYVE26c.4183G>C (p.Ala1395Pro)
n.4320G>C
c.*2350+130G>C (n.*2350+130G>C)
c.2674G>C (p.Ala892Pro)
c.1858G>C (p.Ala620Pro)
c.1765G>C (p.Ala589Pro)
14g.67782969C>TCA390170664ZFYVE26c.4183G>A (p.Ala1395Thr)
n.4320G>A
c.*2350+130G>A (n.*2350+130G>A)
c.2674G>A (p.Ala892Thr)
c.1858G>A (p.Ala620Thr)
c.1765G>A (p.Ala589Thr)
14g.67782970C>ACA390170667ZFYVE26c.4182G>T (p.Trp1394Cys)
n.4319G>T
c.*2350+129G>T (n.*2350+129G>T)
c.2673G>T (p.Trp891Cys)
c.1857G>T (p.Trp619Cys)
c.1764G>T (p.Trp588Cys)
14g.67782970C=CA2144027703ZFYVE26c.4182G= (p.Trp1394=)
n.4319G=
c.*2350+129G= (n.*2350+129G=)
c.2673G= (p.Trp891=)
c.1857G= (p.Trp619=)
c.1764G= (p.Trp588=)
14g.67782970C>GCA390170668ZFYVE26c.4182G>C (p.Trp1394Cys)
n.4319G>C
c.*2350+129G>C (n.*2350+129G>C)
c.2673G>C (p.Trp891Cys)
c.1857G>C (p.Trp619Cys)
c.1764G>C (p.Trp588Cys)
14g.67782970C>TCA390170669ZFYVE26c.4182G>A (p.Trp1394Ter)
n.4319G>A
c.*2350+129G>A (n.*2350+129G>A)
c.2673G>A (p.Trp891Ter)
c.1857G>A (p.Trp619Ter)
c.1764G>A (p.Trp588Ter)
 ClinVar dbSNP
14g.67782971C>ACA390170670ZFYVE26c.4181G>T (p.Trp1394Leu)
n.4318G>T
c.*2350+128G>T (n.*2350+128G>T)
c.2672G>T (p.Trp891Leu)
c.1856G>T (p.Trp619Leu)
c.1763G>T (p.Trp588Leu)
14g.67782971C=CA2144027704ZFYVE26c.4181G= (p.Trp1394=)
n.4318G=
c.*2350+128G= (n.*2350+128G=)
c.2672G= (p.Trp891=)
c.1856G= (p.Trp619=)
c.1763G= (p.Trp588=)
14g.67782971C>GCA390170671ZFYVE26c.4181G>C (p.Trp1394Ser)
n.4318G>C
c.*2350+128G>C (n.*2350+128G>C)
c.2672G>C (p.Trp891Ser)
c.1856G>C (p.Trp619Ser)
c.1763G>C (p.Trp588Ser)
14g.67782971C>TCA250411ZFYVE26c.4181G>A (p.Trp1394Ter)
n.4318G>A
c.*2350+128G>A (n.*2350+128G>A)
c.2672G>A (p.Trp891Ter)
c.1856G>A (p.Trp619Ter)
c.1763G>A (p.Trp588Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782972A>CCA390170672ZFYVE26c.4180T>G (p.Trp1394Gly)
n.4317T>G
c.*2350+127T>G (n.*2350+127T>G)
c.2671T>G (p.Trp891Gly)
c.1855T>G (p.Trp619Gly)
c.1762T>G (p.Trp588Gly)
14g.67782972A>GCA390170673ZFYVE26c.4180T>C (p.Trp1394Arg)
n.4317T>C
c.*2350+127T>C (n.*2350+127T>C)
c.2671T>C (p.Trp891Arg)
c.1855T>C (p.Trp619Arg)
c.1762T>C (p.Trp588Arg)
14g.67782972A>TCA390170674ZFYVE26c.4180T>A (p.Trp1394Arg)
n.4317T>A
c.*2350+127T>A (n.*2350+127T>A)
c.2671T>A (p.Trp891Arg)
c.1855T>A (p.Trp619Arg)
c.1762T>A (p.Trp588Arg)
14g.67782973A>CCA486970730ZFYVE26c.4179T>G (p.Gly1393=)
n.4316T>G
c.*2350+126T>G (n.*2350+126T>G)
c.2670T>G (p.Gly890=)
c.1854T>G (p.Gly618=)
c.1761T>G (p.Gly587=)
14g.67782973A>GCA486970731ZFYVE26c.4179T>C (p.Gly1393=)
n.4316T>C
c.*2350+126T>C (n.*2350+126T>C)
c.2670T>C (p.Gly890=)
c.1854T>C (p.Gly618=)
c.1761T>C (p.Gly587=)
14g.67782973A>TCA486970732ZFYVE26c.4179T>A (p.Gly1393=)
n.4316T>A
c.*2350+126T>A (n.*2350+126T>A)
c.2670T>A (p.Gly890=)
c.1854T>A (p.Gly618=)
c.1761T>A (p.Gly587=)
14g.67782974C>ACA390170675ZFYVE26c.4178G>T (p.Gly1393Val)
n.4315G>T
c.*2350+125G>T (n.*2350+125G>T)
c.2669G>T (p.Gly890Val)
c.1853G>T (p.Gly618Val)
c.1760G>T (p.Gly587Val)
14g.67782974C>GCA390170676ZFYVE26c.4178G>C (p.Gly1393Ala)
n.4315G>C
c.*2350+125G>C (n.*2350+125G>C)
c.2669G>C (p.Gly890Ala)
c.1853G>C (p.Gly618Ala)
c.1760G>C (p.Gly587Ala)
14g.67782974C>TCA390170677ZFYVE26c.4178G>A (p.Gly1393Asp)
n.4315G>A
c.*2350+125G>A (n.*2350+125G>A)
c.2669G>A (p.Gly890Asp)
c.1853G>A (p.Gly618Asp)
c.1760G>A (p.Gly587Asp)
14g.67782974_67782975insTCA2580088645ZFYVE26c.4177_4178insA (p.Gly1393GlufsTer23)
n.4314_4315insA
c.*2350+124_*2350+125insA (n.*2350+124_*2350+125insA)
c.2668_2669insA (p.Gly890GlufsTer23)
c.1852_1853insA (p.Gly618GlufsTer23)
c.1759_1760insA (p.Gly587GlufsTer23)
 ClinVar
14g.67782975C>ACA390170680ZFYVE26c.4177G>T (p.Gly1393Cys)
n.4314G>T
c.*2350+124G>T (n.*2350+124G>T)
c.2668G>T (p.Gly890Cys)
c.1852G>T (p.Gly618Cys)
c.1759G>T (p.Gly587Cys)
14g.67782975C>GCA390170678ZFYVE26c.4177G>C (p.Gly1393Arg)
n.4314G>C
c.*2350+124G>C (n.*2350+124G>C)
c.2668G>C (p.Gly890Arg)
c.1852G>C (p.Gly618Arg)
c.1759G>C (p.Gly587Arg)
14g.67782975C>TCA390170679ZFYVE26c.4177G>A (p.Gly1393Ser)
n.4314G>A
c.*2350+124G>A (n.*2350+124G>A)
c.2668G>A (p.Gly890Ser)
c.1852G>A (p.Gly618Ser)
c.1759G>A (p.Gly587Ser)
14g.67782975_67782976insCAAACACACCCAACCA2801976546ZFYVE26c.4177_4178insTTGGGTGTGTTTGG (p.Gly1393ValfsTer23)
n.4314_4315insTTGGGTGTGTTTGG
c.*2350+124_*2350+125insTTGGGTGTGTTTGG (n.*2350+124_*2350+125insTTGGGTGTGTTTGG)
c.2668_2669insTTGGGTGTGTTTGG (p.Gly890ValfsTer23)
c.1852_1853insTTGGGTGTGTTTGG (p.Gly618ValfsTer23)
c.1759_1760insTTGGGTGTGTTTGG (p.Gly587ValfsTer23)
14g.67782977_67782978delCA2575559837ZFYVE26c.4176_4177del (p.Cys1392TrpfsTer23)
n.4313_4314del
c.*2350+123_*2350+124del (n.*2350+123_*2350+124del)
c.2667_2668del (p.Cys889TrpfsTer23)
c.1851_1852del (p.Cys617TrpfsTer23)
c.1758_1759del (p.Cys586TrpfsTer23)
14g.67782976A=CA2144027705ZFYVE26c.4176T= (p.Cys1392=)
n.4313T=
c.*2350+123T= (n.*2350+123T=)
c.2667T= (p.Cys889=)
c.1851T= (p.Cys617=)
c.1758T= (p.Cys586=)
14g.67782976A>CCA390170681ZFYVE26c.4176T>G (p.Cys1392Trp)
n.4313T>G
c.*2350+123T>G (n.*2350+123T>G)
c.2667T>G (p.Cys889Trp)
c.1851T>G (p.Cys617Trp)
c.1758T>G (p.Cys586Trp)
14g.67782976A>GCA7239825ZFYVE26c.4176T>C (p.Cys1392=)
n.4313T>C
c.*2350+123T>C (n.*2350+123T>C)
c.2667T>C (p.Cys889=)
c.1851T>C (p.Cys617=)
c.1758T>C (p.Cys586=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782976A>TCA390170682ZFYVE26c.4176T>A (p.Cys1392Ter)
n.4313T>A
c.*2350+123T>A (n.*2350+123T>A)
c.2667T>A (p.Cys889Ter)
c.1851T>A (p.Cys617Ter)
c.1758T>A (p.Cys586Ter)
14g.67782977C>ACA390170683ZFYVE26c.4175G>T (p.Cys1392Phe)
n.4312G>T
c.*2350+122G>T (n.*2350+122G>T)
c.2666G>T (p.Cys889Phe)
c.1850G>T (p.Cys617Phe)
c.1757G>T (p.Cys586Phe)
14g.67782977C>GCA390170684ZFYVE26c.4175G>C (p.Cys1392Ser)
n.4312G>C
c.*2350+122G>C (n.*2350+122G>C)
c.2666G>C (p.Cys889Ser)
c.1850G>C (p.Cys617Ser)
c.1757G>C (p.Cys586Ser)
14g.67782977C>TCA390170685ZFYVE26c.4175G>A (p.Cys1392Tyr)
n.4312G>A
c.*2350+122G>A (n.*2350+122G>A)
c.2666G>A (p.Cys889Tyr)
c.1850G>A (p.Cys617Tyr)
c.1757G>A (p.Cys586Tyr)
 gnomAD v4
14g.67782977_67782979delinsCAGCA2144027706ZFYVE26c.4173_4175delinsCTG (p.Leu1391=)
n.4310_4312delinsCTG
c.*2350+120_*2350+122delinsCTG (n.*2350+120_*2350+122delinsCTG)
c.2664_2666delinsCTG (p.Leu888=)
c.1848_1850delinsCTG (p.Leu616=)
c.1755_1757delinsCTG (p.Leu585=)
14g.67782978A>CCA390170686ZFYVE26c.4174T>G (p.Cys1392Gly)
n.4311T>G
c.*2350+121T>G (n.*2350+121T>G)
c.2665T>G (p.Cys889Gly)
c.1849T>G (p.Cys617Gly)
c.1756T>G (p.Cys586Gly)
14g.67782978A>GCA390170687ZFYVE26c.4174T>C (p.Cys1392Arg)
n.4311T>C
c.*2350+121T>C (n.*2350+121T>C)
c.2665T>C (p.Cys889Arg)
c.1849T>C (p.Cys617Arg)
c.1756T>C (p.Cys586Arg)
14g.67782978A>TCA390170688ZFYVE26c.4174T>A (p.Cys1392Ser)
n.4311T>A
c.*2350+121T>A (n.*2350+121T>A)
c.2665T>A (p.Cys889Ser)
c.1849T>A (p.Cys617Ser)
c.1756T>A (p.Cys586Ser)
14g.67782981_67782982delCA964243877ZFYVE26c.4173_4174del (p.Cys1392TrpfsTer23)
n.4310_4311del
c.*2350+120_*2350+121del (n.*2350+120_*2350+121del)
c.2664_2665del (p.Cys889TrpfsTer23)
c.1848_1849del (p.Cys617TrpfsTer23)
c.1755_1756del (p.Cys586TrpfsTer23)
 dbSNP gnomAD v3 gnomAD v4
14g.67782979G>ACA486970733ZFYVE26c.4173C>T (p.Leu1391=)
n.4310C>T
c.*2350+120C>T (n.*2350+120C>T)
c.2664C>T (p.Leu888=)
c.1848C>T (p.Leu616=)
c.1755C>T (p.Leu585=)
 ClinVar dbSNP
14g.67782979G>CCA486970734ZFYVE26c.4173C>G (p.Leu1391=)
n.4310C>G
c.*2350+120C>G (n.*2350+120C>G)
c.2664C>G (p.Leu888=)
c.1848C>G (p.Leu616=)
c.1755C>G (p.Leu585=)
14g.67782979G>TCA486970735ZFYVE26c.4173C>A (p.Leu1391=)
n.4310C>A
c.*2350+120C>A (n.*2350+120C>A)
c.2664C>A (p.Leu888=)
c.1848C>A (p.Leu616=)
c.1755C>A (p.Leu585=)
14g.67782980A>CCA390170689ZFYVE26c.4172T>G (p.Leu1391Arg)
n.4309T>G
c.*2350+119T>G (n.*2350+119T>G)
c.2663T>G (p.Leu888Arg)
c.1847T>G (p.Leu616Arg)
c.1754T>G (p.Leu585Arg)
14g.67782980A>GCA390170690ZFYVE26c.4172T>C (p.Leu1391Pro)
n.4309T>C
c.*2350+119T>C (n.*2350+119T>C)
c.2663T>C (p.Leu888Pro)
c.1847T>C (p.Leu616Pro)
c.1754T>C (p.Leu585Pro)
14g.67782980A>TCA390170691ZFYVE26c.4172T>A (p.Leu1391His)
n.4309T>A
c.*2350+119T>A (n.*2350+119T>A)
c.2663T>A (p.Leu888His)
c.1847T>A (p.Leu616His)
c.1754T>A (p.Leu585His)
14g.67782981G>ACA390170693ZFYVE26c.4171C>T (p.Leu1391Phe)
n.4308C>T
c.*2350+118C>T (n.*2350+118C>T)
c.2662C>T (p.Leu888Phe)
c.1846C>T (p.Leu616Phe)
c.1753C>T (p.Leu585Phe)
 COSMIC
14g.67782981G>CCA390170694ZFYVE26c.4171C>G (p.Leu1391Val)
n.4308C>G
c.*2350+118C>G (n.*2350+118C>G)
c.2662C>G (p.Leu888Val)
c.1846C>G (p.Leu616Val)
c.1753C>G (p.Leu585Val)
 ClinVar dbSNP
14g.67782981G=CA2144027707ZFYVE26c.4171C= (p.Leu1391=)
n.4308C=
c.*2350+118C= (n.*2350+118C=)
c.2662C= (p.Leu888=)
c.1846C= (p.Leu616=)
c.1753C= (p.Leu585=)
14g.67782981G>TCA390170692ZFYVE26c.4171C>A (p.Leu1391Ile)
n.4308C>A
c.*2350+118C>A (n.*2350+118C>A)
c.2662C>A (p.Leu888Ile)
c.1846C>A (p.Leu616Ile)
c.1753C>A (p.Leu585Ile)
 dbSNP gnomAD v2 gnomAD v4
14g.67782982A>CCA390170695ZFYVE26c.4170T>G (p.Asn1390Lys)
n.4307T>G
c.*2350+117T>G (n.*2350+117T>G)
c.2661T>G (p.Asn887Lys)
c.1845T>G (p.Asn615Lys)
c.1752T>G (p.Asn584Lys)
14g.67782982A>GCA486970736ZFYVE26c.4170T>C (p.Asn1390=)
n.4307T>C
c.*2350+117T>C (n.*2350+117T>C)
c.2661T>C (p.Asn887=)
c.1845T>C (p.Asn615=)
c.1752T>C (p.Asn584=)
14g.67782982A>TCA390170696ZFYVE26c.4170T>A (p.Asn1390Lys)
n.4307T>A
c.*2350+117T>A (n.*2350+117T>A)
c.2661T>A (p.Asn887Lys)
c.1845T>A (p.Asn615Lys)
c.1752T>A (p.Asn584Lys)
14g.67782983T>ACA390170697ZFYVE26c.4169A>T (p.Asn1390Ile)
n.4306A>T
c.*2350+116A>T (n.*2350+116A>T)
c.2660A>T (p.Asn887Ile)
c.1844A>T (p.Asn615Ile)
c.1751A>T (p.Asn584Ile)
14g.67782983T>CCA390170698ZFYVE26c.4169A>G (p.Asn1390Ser)
n.4306A>G
c.*2350+116A>G (n.*2350+116A>G)
c.2660A>G (p.Asn887Ser)
c.1844A>G (p.Asn615Ser)
c.1751A>G (p.Asn584Ser)
14g.67782983T>GCA390170699ZFYVE26c.4169A>C (p.Asn1390Thr)
n.4306A>C
c.*2350+116A>C (n.*2350+116A>C)
c.2660A>C (p.Asn887Thr)
c.1844A>C (p.Asn615Thr)
c.1751A>C (p.Asn584Thr)
14g.67782984T>ACA390170701ZFYVE26c.4168A>T (p.Asn1390Tyr)
n.4305A>T
c.*2350+115A>T (n.*2350+115A>T)
c.2659A>T (p.Asn887Tyr)
c.1843A>T (p.Asn615Tyr)
c.1750A>T (p.Asn584Tyr)
14g.67782984T>CCA7239826ZFYVE26c.4168A>G (p.Asn1390Asp)
n.4305A>G
c.*2350+115A>G (n.*2350+115A>G)
c.2659A>G (p.Asn887Asp)
c.1843A>G (p.Asn615Asp)
c.1750A>G (p.Asn584Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782984T>GCA390170700ZFYVE26c.4168A>C (p.Asn1390His)
n.4305A>C
c.*2350+115A>C (n.*2350+115A>C)
c.2659A>C (p.Asn887His)
c.1843A>C (p.Asn615His)
c.1750A>C (p.Asn584His)
14g.67782984T=CA2144027708ZFYVE26c.4168A= (p.Asn1390=)
n.4305A=
c.*2350+115A= (n.*2350+115A=)
c.2659A= (p.Asn887=)
c.1843A= (p.Asn615=)
c.1750A= (p.Asn584=)
14g.67782985C>ACA486970739ZFYVE26c.4167G>T (p.Val1389=)
n.4304G>T
c.*2350+114G>T (n.*2350+114G>T)
c.2658G>T (p.Val886=)
c.1842G>T (p.Val614=)
c.1749G>T (p.Val583=)
14g.67782985C>GCA486970737ZFYVE26c.4167G>C (p.Val1389=)
n.4304G>C
c.*2350+114G>C (n.*2350+114G>C)
c.2658G>C (p.Val886=)
c.1842G>C (p.Val614=)
c.1749G>C (p.Val583=)
14g.67782985C>TCA486970738ZFYVE26c.4167G>A (p.Val1389=)
n.4304G>A
c.*2350+114G>A (n.*2350+114G>A)
c.2658G>A (p.Val886=)
c.1842G>A (p.Val614=)
c.1749G>A (p.Val583=)
14g.67782986A>CCA390170702ZFYVE26c.4166T>G (p.Val1389Gly)
n.4303T>G
c.*2350+113T>G (n.*2350+113T>G)
c.2657T>G (p.Val886Gly)
c.1841T>G (p.Val614Gly)
c.1748T>G (p.Val583Gly)
 gnomAD v4
14g.67782986A>GCA390170703ZFYVE26c.4166T>C (p.Val1389Ala)
n.4303T>C
c.*2350+113T>C (n.*2350+113T>C)
c.2657T>C (p.Val886Ala)
c.1841T>C (p.Val614Ala)
c.1748T>C (p.Val583Ala)
14g.67782986A>TCA390170704ZFYVE26c.4166T>A (p.Val1389Glu)
n.4303T>A
c.*2350+113T>A (n.*2350+113T>A)
c.2657T>A (p.Val886Glu)
c.1841T>A (p.Val614Glu)
c.1748T>A (p.Val583Glu)
14g.67782987C>ACA390170705ZFYVE26c.4165G>T (p.Val1389Leu)
n.4302G>T
c.*2350+112G>T (n.*2350+112G>T)
c.2656G>T (p.Val886Leu)
c.1840G>T (p.Val614Leu)
c.1747G>T (p.Val583Leu)
14g.67782987C>GCA390170706ZFYVE26c.4165G>C (p.Val1389Leu)
n.4302G>C
c.*2350+112G>C (n.*2350+112G>C)
c.2656G>C (p.Val886Leu)
c.1840G>C (p.Val614Leu)
c.1747G>C (p.Val583Leu)
 gnomAD v4
14g.67782987C>TCA390170707ZFYVE26c.4165G>A (p.Val1389Met)
n.4302G>A
c.*2350+112G>A (n.*2350+112G>A)
c.2656G>A (p.Val886Met)
c.1840G>A (p.Val614Met)
c.1747G>A (p.Val583Met)
14g.67782988T>ACA486970740ZFYVE26c.4164A>T (p.Ala1388=)
n.4301A>T
c.*2350+111A>T (n.*2350+111A>T)
c.2655A>T (p.Ala885=)
c.1839A>T (p.Ala613=)
c.1746A>T (p.Ala582=)
 COSMIC
14g.67782988T>CCA486970741ZFYVE26c.4164A>G (p.Ala1388=)
n.4301A>G
c.*2350+111A>G (n.*2350+111A>G)
c.2655A>G (p.Ala885=)
c.1839A>G (p.Ala613=)
c.1746A>G (p.Ala582=)
14g.67782988T>GCA486970742ZFYVE26c.4164A>C (p.Ala1388=)
n.4301A>C
c.*2350+111A>C (n.*2350+111A>C)
c.2655A>C (p.Ala885=)
c.1839A>C (p.Ala613=)
c.1746A>C (p.Ala582=)
14g.67782989G>ACA390170710ZFYVE26c.4163C>T (p.Ala1388Val)
n.4300C>T
c.*2350+110C>T (n.*2350+110C>T)
c.2654C>T (p.Ala885Val)
c.1838C>T (p.Ala613Val)
c.1745C>T (p.Ala582Val)
14g.67782989G>CCA390170708ZFYVE26c.4163C>G (p.Ala1388Gly)
n.4300C>G
c.*2350+110C>G (n.*2350+110C>G)
c.2654C>G (p.Ala885Gly)
c.1838C>G (p.Ala613Gly)
c.1745C>G (p.Ala582Gly)
14g.67782989G>TCA390170709ZFYVE26c.4163C>A (p.Ala1388Glu)
n.4300C>A
c.*2350+110C>A (n.*2350+110C>A)
c.2654C>A (p.Ala885Glu)
c.1838C>A (p.Ala613Glu)
c.1745C>A (p.Ala582Glu)
14g.67782990C>ACA390170711ZFYVE26c.4162G>T (p.Ala1388Ser)
n.4299G>T
c.*2350+109G>T (n.*2350+109G>T)
c.2653G>T (p.Ala885Ser)
c.1837G>T (p.Ala613Ser)
c.1744G>T (p.Ala582Ser)
14g.67782990C>GCA390170712ZFYVE26c.4162G>C (p.Ala1388Pro)
n.4299G>C
c.*2350+109G>C (n.*2350+109G>C)
c.2653G>C (p.Ala885Pro)
c.1837G>C (p.Ala613Pro)
c.1744G>C (p.Ala582Pro)
14g.67782990C>TCA390170713ZFYVE26c.4162G>A (p.Ala1388Thr)
n.4299G>A
c.*2350+109G>A (n.*2350+109G>A)
c.2653G>A (p.Ala885Thr)
c.1837G>A (p.Ala613Thr)
c.1744G>A (p.Ala582Thr)
14g.67782991C>ACA486970744ZFYVE26c.4161G>T (p.Leu1387=)
n.4298G>T
c.*2350+108G>T (n.*2350+108G>T)
c.2652G>T (p.Leu884=)
c.1836G>T (p.Leu612=)
c.1743G>T (p.Leu581=)
14g.67782991C=CA2144027709ZFYVE26c.4161G= (p.Leu1387=)
n.4298G=
c.*2350+108G= (n.*2350+108G=)
c.2652G= (p.Leu884=)
c.1836G= (p.Leu612=)
c.1743G= (p.Leu581=)
14g.67782991C>GCA486970743ZFYVE26c.4161G>C (p.Leu1387=)
n.4298G>C
c.*2350+108G>C (n.*2350+108G>C)
c.2652G>C (p.Leu884=)
c.1836G>C (p.Leu612=)
c.1743G>C (p.Leu581=)
14g.67782991C>TCA486970745ZFYVE26c.4161G>A (p.Leu1387=)
n.4298G>A
c.*2350+108G>A (n.*2350+108G>A)
c.2652G>A (p.Leu884=)
c.1836G>A (p.Leu612=)
c.1743G>A (p.Leu581=)
 ClinVar dbSNP
14g.67782992A=CA2144027710ZFYVE26c.4160T= (p.Leu1387=)
n.4297T=
c.*2350+107T= (n.*2350+107T=)
c.2651T= (p.Leu884=)
c.1835T= (p.Leu612=)
c.1742T= (p.Leu581=)
14g.67782992A>CCA390170714ZFYVE26c.4160T>G (p.Leu1387Arg)
n.4297T>G
c.*2350+107T>G (n.*2350+107T>G)
c.2651T>G (p.Leu884Arg)
c.1835T>G (p.Leu612Arg)
c.1742T>G (p.Leu581Arg)
14g.67782992A>GCA390170715ZFYVE26c.4160T>C (p.Leu1387Pro)
n.4297T>C
c.*2350+107T>C (n.*2350+107T>C)
c.2651T>C (p.Leu884Pro)
c.1835T>C (p.Leu612Pro)
c.1742T>C (p.Leu581Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.67782992A>TCA390170716ZFYVE26c.4160T>A (p.Leu1387Gln)
n.4297T>A
c.*2350+107T>A (n.*2350+107T>A)
c.2651T>A (p.Leu884Gln)
c.1835T>A (p.Leu612Gln)
c.1742T>A (p.Leu581Gln)
14g.67782993G>ACA486970746ZFYVE26c.4159C>T (p.Leu1387=)
n.4296C>T
c.*2350+106C>T (n.*2350+106C>T)
c.2650C>T (p.Leu884=)
c.1834C>T (p.Leu612=)
c.1741C>T (p.Leu581=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782993G>CCA390170717ZFYVE26c.4159C>G (p.Leu1387Val)
n.4296C>G
c.*2350+106C>G (n.*2350+106C>G)
c.2650C>G (p.Leu884Val)
c.1834C>G (p.Leu612Val)
c.1741C>G (p.Leu581Val)
14g.67782993G=CA2144027711ZFYVE26c.4159C= (p.Leu1387=)
n.4296C=
c.*2350+106C= (n.*2350+106C=)
c.2650C= (p.Leu884=)
c.1834C= (p.Leu612=)
c.1741C= (p.Leu581=)
14g.67782993G>TCA390170718ZFYVE26c.4159C>A (p.Leu1387Met)
n.4296C>A
c.*2350+106C>A (n.*2350+106C>A)
c.2650C>A (p.Leu884Met)
c.1834C>A (p.Leu612Met)
c.1741C>A (p.Leu581Met)
14g.67782994A>CCA390170719ZFYVE26c.4158T>G (p.Ser1386Arg)
n.4295T>G
c.*2350+105T>G (n.*2350+105T>G)
c.2649T>G (p.Ser883Arg)
c.1833T>G (p.Ser611Arg)
c.1740T>G (p.Ser580Arg)
14g.67782994A>GCA486970747ZFYVE26c.4158T>C (p.Ser1386=)
n.4295T>C
c.*2350+105T>C (n.*2350+105T>C)
c.2649T>C (p.Ser883=)
c.1833T>C (p.Ser611=)
c.1740T>C (p.Ser580=)
14g.67782994A>TCA390170720ZFYVE26c.4158T>A (p.Ser1386Arg)
n.4295T>A
c.*2350+105T>A (n.*2350+105T>A)
c.2649T>A (p.Ser883Arg)
c.1833T>A (p.Ser611Arg)
c.1740T>A (p.Ser580Arg)
14g.67782995C>ACA390170721ZFYVE26c.4157G>T (p.Ser1386Ile)
n.4294G>T
c.*2350+104G>T (n.*2350+104G>T)
c.2648G>T (p.Ser883Ile)
c.1832G>T (p.Ser611Ile)
c.1739G>T (p.Ser580Ile)
14g.67782995C>GCA390170722ZFYVE26c.4157G>C (p.Ser1386Thr)
n.4294G>C
c.*2350+104G>C (n.*2350+104G>C)
c.2648G>C (p.Ser883Thr)
c.1832G>C (p.Ser611Thr)
c.1739G>C (p.Ser580Thr)
 COSMIC
14g.67782995C>TCA390170723ZFYVE26c.4157G>A (p.Ser1386Asn)
n.4294G>A
c.*2350+104G>A (n.*2350+104G>A)
c.2648G>A (p.Ser883Asn)
c.1832G>A (p.Ser611Asn)
c.1739G>A (p.Ser580Asn)
14g.67782996T>ACA390170724ZFYVE26c.4156A>T (p.Ser1386Cys)
n.4293A>T
c.*2350+103A>T (n.*2350+103A>T)
c.2647A>T (p.Ser883Cys)
c.1831A>T (p.Ser611Cys)
c.1738A>T (p.Ser580Cys)
14g.67782996T>CCA390170726ZFYVE26c.4156A>G (p.Ser1386Gly)
n.4293A>G
c.*2350+103A>G (n.*2350+103A>G)
c.2647A>G (p.Ser883Gly)
c.1831A>G (p.Ser611Gly)
c.1738A>G (p.Ser580Gly)
14g.67782996T>GCA390170725ZFYVE26c.4156A>C (p.Ser1386Arg)
n.4293A>C
c.*2350+103A>C (n.*2350+103A>C)
c.2647A>C (p.Ser883Arg)
c.1831A>C (p.Ser611Arg)
c.1738A>C (p.Ser580Arg)
14g.67782997C>ACA390170727ZFYVE26c.4155G>T (p.Gln1385His)
n.4292G>T
c.*2350+102G>T (n.*2350+102G>T)
c.2646G>T (p.Gln882His)
c.1830G>T (p.Gln610His)
c.1737G>T (p.Gln579His)
14g.67782997C=CA2144027712ZFYVE26c.4155G= (p.Gln1385=)
n.4292G=
c.*2350+102G= (n.*2350+102G=)
c.2646G= (p.Gln882=)
c.1830G= (p.Gln610=)
c.1737G= (p.Gln579=)
14g.67782997C>GCA390170728ZFYVE26c.4155G>C (p.Gln1385His)
n.4292G>C
c.*2350+102G>C (n.*2350+102G>C)
c.2646G>C (p.Gln882His)
c.1830G>C (p.Gln610His)
c.1737G>C (p.Gln579His)
14g.67782997C>TCA486970748ZFYVE26c.4155G>A (p.Gln1385=)
n.4292G>A
c.*2350+102G>A (n.*2350+102G>A)
c.2646G>A (p.Gln882=)
c.1830G>A (p.Gln610=)
c.1737G>A (p.Gln579=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782998T>ACA390170729ZFYVE26c.4154A>T (p.Gln1385Leu)
n.4291A>T
c.*2350+101A>T (n.*2350+101A>T)
c.2645A>T (p.Gln882Leu)
c.1829A>T (p.Gln610Leu)
c.1736A>T (p.Gln579Leu)
14g.67782998T>CCA390170730ZFYVE26c.4154A>G (p.Gln1385Arg)
n.4291A>G
c.*2350+101A>G (n.*2350+101A>G)
c.2645A>G (p.Gln882Arg)
c.1829A>G (p.Gln610Arg)
c.1736A>G (p.Gln579Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.67782998T>GCA390170731ZFYVE26c.4154A>C (p.Gln1385Pro)
n.4291A>C
c.*2350+101A>C (n.*2350+101A>C)
c.2645A>C (p.Gln882Pro)
c.1829A>C (p.Gln610Pro)
c.1736A>C (p.Gln579Pro)
14g.67782998T=CA2144027713ZFYVE26c.4154A= (p.Gln1385=)
n.4291A=
c.*2350+101A= (n.*2350+101A=)
c.2645A= (p.Gln882=)
c.1829A= (p.Gln610=)
c.1736A= (p.Gln579=)
14g.67782999G>ACA390170732ZFYVE26c.4153C>T (p.Gln1385Ter)
n.4290C>T
c.*2350+100C>T (n.*2350+100C>T)
c.2644C>T (p.Gln882Ter)
c.1828C>T (p.Gln610Ter)
c.1735C>T (p.Gln579Ter)
 ClinVar dbSNP gnomAD v4
14g.67782999G>CCA390170733ZFYVE26c.4153C>G (p.Gln1385Glu)
n.4290C>G
c.*2350+100C>G (n.*2350+100C>G)
c.2644C>G (p.Gln882Glu)
c.1828C>G (p.Gln610Glu)
c.1735C>G (p.Gln579Glu)
14g.67782999G=CA2144027714ZFYVE26c.4153C= (p.Gln1385=)
n.4290C=
c.*2350+100C= (n.*2350+100C=)
c.2644C= (p.Gln882=)
c.1828C= (p.Gln610=)
c.1735C= (p.Gln579=)
14g.67782999G>TCA390170734ZFYVE26c.4153C>A (p.Gln1385Lys)
n.4290C>A
c.*2350+100C>A (n.*2350+100C>A)
c.2644C>A (p.Gln882Lys)
c.1828C>A (p.Gln610Lys)
c.1735C>A (p.Gln579Lys)
14g.67783000C>ACA486970749ZFYVE26c.4152G>T (p.Gly1384=)
n.4289G>T
c.*2350+99G>T (n.*2350+99G>T)
c.2643G>T (p.Gly881=)
c.1827G>T (p.Gly609=)
c.1734G>T (p.Gly578=)
14g.67783000C=CA2144027715ZFYVE26c.4152G= (p.Gly1384=)
n.4289G=
c.*2350+99G= (n.*2350+99G=)
c.2643G= (p.Gly881=)
c.1827G= (p.Gly609=)
c.1734G= (p.Gly578=)
14g.67783000C>GCA486970750ZFYVE26c.4152G>C (p.Gly1384=)
n.4289G>C
c.*2350+99G>C (n.*2350+99G>C)
c.2643G>C (p.Gly881=)
c.1827G>C (p.Gly609=)
c.1734G>C (p.Gly578=)
14g.67783000C>TCA486970751ZFYVE26c.4152G>A (p.Gly1384=)
n.4289G>A
c.*2350+99G>A (n.*2350+99G>A)
c.2643G>A (p.Gly881=)
c.1827G>A (p.Gly609=)
c.1734G>A (p.Gly578=)
 ClinVar dbSNP
14g.67783001C>ACA390170735ZFYVE26c.4151G>T (p.Gly1384Val)
n.4288G>T
c.*2350+98G>T (n.*2350+98G>T)
c.2642G>T (p.Gly881Val)
c.1826G>T (p.Gly609Val)
c.1733G>T (p.Gly578Val)
14g.67783001C=CA2144027716ZFYVE26c.4151G= (p.Gly1384=)
n.4288G=
c.*2350+98G= (n.*2350+98G=)
c.2642G= (p.Gly881=)
c.1826G= (p.Gly609=)
c.1733G= (p.Gly578=)
14g.67783001C>GCA390170736ZFYVE26c.4151G>C (p.Gly1384Ala)
n.4288G>C
c.*2350+98G>C (n.*2350+98G>C)
c.2642G>C (p.Gly881Ala)
c.1826G>C (p.Gly609Ala)
c.1733G>C (p.Gly578Ala)
14g.67783001C>TCA390170737ZFYVE26c.4151G>A (p.Gly1384Glu)
n.4288G>A
c.*2350+98G>A (n.*2350+98G>A)
c.2642G>A (p.Gly881Glu)
c.1826G>A (p.Gly609Glu)
c.1733G>A (p.Gly578Glu)
 dbSNP gnomAD v3 gnomAD v4
14g.67783002C>ACA390170738ZFYVE26c.4150G>T (p.Gly1384Trp)
n.4287G>T
c.*2350+97G>T (n.*2350+97G>T)
c.2641G>T (p.Gly881Trp)
c.1825G>T (p.Gly609Trp)
c.1732G>T (p.Gly578Trp)
14g.67783002C>GCA390170739ZFYVE26c.4150G>C (p.Gly1384Arg)
n.4287G>C
c.*2350+97G>C (n.*2350+97G>C)
c.2641G>C (p.Gly881Arg)
c.1825G>C (p.Gly609Arg)
c.1732G>C (p.Gly578Arg)
14g.67783002C>TCA390170740ZFYVE26c.4150G>A (p.Gly1384Arg)
n.4287G>A
c.*2350+97G>A (n.*2350+97G>A)
c.2641G>A (p.Gly881Arg)
c.1825G>A (p.Gly609Arg)
c.1732G>A (p.Gly578Arg)
14g.67783003C>ACA390170741ZFYVE26c.4149G>T (p.Gln1383His)
n.4286G>T
c.*2350+96G>T (n.*2350+96G>T)
c.2640G>T (p.Gln880His)
c.1824G>T (p.Gln608His)
c.1731G>T (p.Gln577His)
14g.67783003C=CA2144027717ZFYVE26c.4149G= (p.Gln1383=)
n.4286G=
c.*2350+96G= (n.*2350+96G=)
c.2640G= (p.Gln880=)
c.1824G= (p.Gln608=)
c.1731G= (p.Gln577=)
14g.67783003C>GCA390170742ZFYVE26c.4149G>C (p.Gln1383His)
n.4286G>C
c.*2350+96G>C (n.*2350+96G>C)
c.2640G>C (p.Gln880His)
c.1824G>C (p.Gln608His)
c.1731G>C (p.Gln577His)
14g.67783003C>TCA486970752ZFYVE26c.4149G>A (p.Gln1383=)
n.4286G>A
c.*2350+96G>A (n.*2350+96G>A)
c.2640G>A (p.Gln880=)
c.1824G>A (p.Gln608=)
c.1731G>A (p.Gln577=)
 dbSNP
14g.67783004T>ACA390170743ZFYVE26c.4148A>T (p.Gln1383Leu)
n.4285A>T
c.*2350+95A>T (n.*2350+95A>T)
c.2639A>T (p.Gln880Leu)
c.1823A>T (p.Gln608Leu)
c.1730A>T (p.Gln577Leu)
14g.67783004T>CCA390170744ZFYVE26c.4148A>G (p.Gln1383Arg)
n.4285A>G
c.*2350+95A>G (n.*2350+95A>G)
c.2639A>G (p.Gln880Arg)
c.1823A>G (p.Gln608Arg)
c.1730A>G (p.Gln577Arg)
14g.67783004T>GCA390170745ZFYVE26c.4148A>C (p.Gln1383Pro)
n.4285A>C
c.*2350+95A>C (n.*2350+95A>C)
c.2639A>C (p.Gln880Pro)
c.1823A>C (p.Gln608Pro)
c.1730A>C (p.Gln577Pro)
14g.67783005G>ACA390170746ZFYVE26c.4147C>T (p.Gln1383Ter)
n.4284C>T
c.*2350+94C>T (n.*2350+94C>T)
c.2638C>T (p.Gln880Ter)
c.1822C>T (p.Gln608Ter)
c.1729C>T (p.Gln577Ter)
 ClinVar dbSNP
14g.67783005G>CCA390170747ZFYVE26c.4147C>G (p.Gln1383Glu)
n.4284C>G
c.*2350+94C>G (n.*2350+94C>G)
c.2638C>G (p.Gln880Glu)
c.1822C>G (p.Gln608Glu)
c.1729C>G (p.Gln577Glu)
14g.67783005G>TCA390170748ZFYVE26c.4147C>A (p.Gln1383Lys)
n.4284C>A
c.*2350+94C>A (n.*2350+94C>A)
c.2638C>A (p.Gln880Lys)
c.1822C>A (p.Gln608Lys)
c.1729C>A (p.Gln577Lys)

Number of alleles fetched