Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.67782789C>ACA390169976ZFYVE26c.4363G>T (p.Val1455Leu)
n.4500G>T
c.*2350+310G>T (n.*2350+310G>T)
c.2854G>T (p.Val952Leu)
c.2038G>T (p.Val680Leu)
c.1945G>T (p.Val649Leu)
14g.67782789C=CA2144027623ZFYVE26c.4363G= (p.Val1455=)
n.4500G=
c.*2350+310G= (n.*2350+310G=)
c.2854G= (p.Val952=)
c.2038G= (p.Val680=)
c.1945G= (p.Val649=)
14g.67782789C>GCA390169977ZFYVE26c.4363G>C (p.Val1455Leu)
n.4500G>C
c.*2350+310G>C (n.*2350+310G>C)
c.2854G>C (p.Val952Leu)
c.2038G>C (p.Val680Leu)
c.1945G>C (p.Val649Leu)
14g.67782789C>TCA7239789ZFYVE26c.4363G>A (p.Val1455Met)
n.4500G>A
c.*2350+310G>A (n.*2350+310G>A)
c.2854G>A (p.Val952Met)
c.2038G>A (p.Val680Met)
c.1945G>A (p.Val649Met)
 dbSNP ExAC gnomAD v2
14g.67782790A>CCA486774764ZFYVE26c.4362T>G (p.Ala1454=)
n.4499T>G
c.*2350+309T>G (n.*2350+309T>G)
c.2853T>G (p.Ala951=)
c.2037T>G (p.Ala679=)
c.1944T>G (p.Ala648=)
14g.67782790A>GCA486774765ZFYVE26c.4362T>C (p.Ala1454=)
n.4499T>C
c.*2350+309T>C (n.*2350+309T>C)
c.2853T>C (p.Ala951=)
c.2037T>C (p.Ala679=)
c.1944T>C (p.Ala648=)
 gnomAD v4
14g.67782790A>TCA486774766ZFYVE26c.4362T>A (p.Ala1454=)
n.4499T>A
c.*2350+309T>A (n.*2350+309T>A)
c.2853T>A (p.Ala951=)
c.2037T>A (p.Ala679=)
c.1944T>A (p.Ala648=)
14g.67782791G>ACA390169978ZFYVE26c.4361C>T (p.Ala1454Val)
n.4498C>T
c.*2350+308C>T (n.*2350+308C>T)
c.2852C>T (p.Ala951Val)
c.2036C>T (p.Ala679Val)
c.1943C>T (p.Ala648Val)
14g.67782791G>CCA390169980ZFYVE26c.4361C>G (p.Ala1454Gly)
n.4498C>G
c.*2350+308C>G (n.*2350+308C>G)
c.2852C>G (p.Ala951Gly)
c.2036C>G (p.Ala679Gly)
c.1943C>G (p.Ala648Gly)
 dbSNP
14g.67782791G=CA2144027624ZFYVE26c.4361C= (p.Ala1454=)
n.4498C=
c.*2350+308C= (n.*2350+308C=)
c.2852C= (p.Ala951=)
c.2036C= (p.Ala679=)
c.1943C= (p.Ala648=)
14g.67782791G>TCA390169979ZFYVE26c.4361C>A (p.Ala1454Asp)
n.4498C>A
c.*2350+308C>A (n.*2350+308C>A)
c.2852C>A (p.Ala951Asp)
c.2036C>A (p.Ala679Asp)
c.1943C>A (p.Ala648Asp)
14g.67782792C>ACA390169981ZFYVE26c.4360G>T (p.Ala1454Ser)
n.4497G>T
c.*2350+307G>T (n.*2350+307G>T)
c.2851G>T (p.Ala951Ser)
c.2035G>T (p.Ala679Ser)
c.1942G>T (p.Ala648Ser)
 ClinVar
14g.67782792C>GCA390169983ZFYVE26c.4360G>C (p.Ala1454Pro)
n.4497G>C
c.*2350+307G>C (n.*2350+307G>C)
c.2851G>C (p.Ala951Pro)
c.2035G>C (p.Ala679Pro)
c.1942G>C (p.Ala648Pro)
14g.67782792C>TCA390169982ZFYVE26c.4360G>A (p.Ala1454Thr)
n.4497G>A
c.*2350+307G>A (n.*2350+307G>A)
c.2851G>A (p.Ala951Thr)
c.2035G>A (p.Ala679Thr)
c.1942G>A (p.Ala648Thr)
14g.67782793A=CA2144027625ZFYVE26c.4359T= (p.Cys1453=)
n.4496T=
c.*2350+306T= (n.*2350+306T=)
c.2850T= (p.Cys950=)
c.2034T= (p.Cys678=)
c.1941T= (p.Cys647=)
14g.67782793A>CCA390169984ZFYVE26c.4359T>G (p.Cys1453Trp)
n.4496T>G
c.*2350+306T>G (n.*2350+306T>G)
c.2850T>G (p.Cys950Trp)
c.2034T>G (p.Cys678Trp)
c.1941T>G (p.Cys647Trp)
14g.67782793A>GCA486774767ZFYVE26c.4359T>C (p.Cys1453=)
n.4496T>C
c.*2350+306T>C (n.*2350+306T>C)
c.2850T>C (p.Cys950=)
c.2034T>C (p.Cys678=)
c.1941T>C (p.Cys647=)
14g.67782793A>TCA390169985ZFYVE26c.4359T>A (p.Cys1453Ter)
n.4496T>A
c.*2350+306T>A (n.*2350+306T>A)
c.2850T>A (p.Cys950Ter)
c.2034T>A (p.Cys678Ter)
c.1941T>A (p.Cys647Ter)
 ClinVar dbSNP
14g.67782794C>ACA390169986ZFYVE26c.4358G>T (p.Cys1453Phe)
n.4495G>T
c.*2350+305G>T (n.*2350+305G>T)
c.2849G>T (p.Cys950Phe)
c.2033G>T (p.Cys678Phe)
c.1940G>T (p.Cys647Phe)
14g.67782794C=CA2144027626ZFYVE26c.4358G= (p.Cys1453=)
n.4495G=
c.*2350+305G= (n.*2350+305G=)
c.2849G= (p.Cys950=)
c.2033G= (p.Cys678=)
c.1940G= (p.Cys647=)
14g.67782794C>GCA390169987ZFYVE26c.4358G>C (p.Cys1453Ser)
n.4495G>C
c.*2350+305G>C (n.*2350+305G>C)
c.2849G>C (p.Cys950Ser)
c.2033G>C (p.Cys678Ser)
c.1940G>C (p.Cys647Ser)
 dbSNP
14g.67782794C>TCA390169988ZFYVE26c.4358G>A (p.Cys1453Tyr)
n.4495G>A
c.*2350+305G>A (n.*2350+305G>A)
c.2849G>A (p.Cys950Tyr)
c.2033G>A (p.Cys678Tyr)
c.1940G>A (p.Cys647Tyr)
14g.67782795A=CA2144027627ZFYVE26c.4357T= (p.Cys1453=)
n.4494T=
c.*2350+304T= (n.*2350+304T=)
c.2848T= (p.Cys950=)
c.2032T= (p.Cys678=)
c.1939T= (p.Cys647=)
14g.67782795A>CCA262848410ZFYVE26c.4357T>G (p.Cys1453Gly)
n.4494T>G
c.*2350+304T>G (n.*2350+304T>G)
c.2848T>G (p.Cys950Gly)
c.2032T>G (p.Cys678Gly)
c.1939T>G (p.Cys647Gly)
 dbSNP gnomAD v4
14g.67782795A>GCA390169989ZFYVE26c.4357T>C (p.Cys1453Arg)
n.4494T>C
c.*2350+304T>C (n.*2350+304T>C)
c.2848T>C (p.Cys950Arg)
c.2032T>C (p.Cys678Arg)
c.1939T>C (p.Cys647Arg)
14g.67782795A>TCA390169990ZFYVE26c.4357T>A (p.Cys1453Ser)
n.4494T>A
c.*2350+304T>A (n.*2350+304T>A)
c.2848T>A (p.Cys950Ser)
c.2032T>A (p.Cys678Ser)
c.1939T>A (p.Cys647Ser)
14g.67782796G>ACA7239790ZFYVE26c.4356C>T (p.Ser1452=)
n.4493C>T
c.*2350+303C>T (n.*2350+303C>T)
c.2847C>T (p.Ser949=)
c.2031C>T (p.Ser677=)
c.1938C>T (p.Ser646=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782796G>CCA390169991ZFYVE26c.4356C>G (p.Ser1452Arg)
n.4493C>G
c.*2350+303C>G (n.*2350+303C>G)
c.2847C>G (p.Ser949Arg)
c.2031C>G (p.Ser677Arg)
c.1938C>G (p.Ser646Arg)
14g.67782796G=CA2144027628ZFYVE26c.4356C= (p.Ser1452=)
n.4493C=
c.*2350+303C= (n.*2350+303C=)
c.2847C= (p.Ser949=)
c.2031C= (p.Ser677=)
c.1938C= (p.Ser646=)
14g.67782796G>TCA390169992ZFYVE26c.4356C>A (p.Ser1452Arg)
n.4493C>A
c.*2350+303C>A (n.*2350+303C>A)
c.2847C>A (p.Ser949Arg)
c.2031C>A (p.Ser677Arg)
c.1938C>A (p.Ser646Arg)
14g.67782797C>ACA7239791ZFYVE26c.4355G>T (p.Ser1452Ile)
n.4492G>T
c.*2350+302G>T (n.*2350+302G>T)
c.2846G>T (p.Ser949Ile)
c.2030G>T (p.Ser677Ile)
c.1937G>T (p.Ser646Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782797C=CA2144027629ZFYVE26c.4355G= (p.Ser1452=)
n.4492G=
c.*2350+302G= (n.*2350+302G=)
c.2846G= (p.Ser949=)
c.2030G= (p.Ser677=)
c.1937G= (p.Ser646=)
14g.67782797C>GCA390169994ZFYVE26c.4355G>C (p.Ser1452Thr)
n.4492G>C
c.*2350+302G>C (n.*2350+302G>C)
c.2846G>C (p.Ser949Thr)
c.2030G>C (p.Ser677Thr)
c.1937G>C (p.Ser646Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782797C>TCA390169993ZFYVE26c.4355G>A (p.Ser1452Asn)
n.4492G>A
c.*2350+302G>A (n.*2350+302G>A)
c.2846G>A (p.Ser949Asn)
c.2030G>A (p.Ser677Asn)
c.1937G>A (p.Ser646Asn)
14g.67782798T>ACA390169995ZFYVE26c.4354A>T (p.Ser1452Cys)
n.4491A>T
c.*2350+301A>T (n.*2350+301A>T)
c.2845A>T (p.Ser949Cys)
c.2029A>T (p.Ser677Cys)
c.1936A>T (p.Ser646Cys)
14g.67782798T>CCA390169996ZFYVE26c.4354A>G (p.Ser1452Gly)
n.4491A>G
c.*2350+301A>G (n.*2350+301A>G)
c.2845A>G (p.Ser949Gly)
c.2029A>G (p.Ser677Gly)
c.1936A>G (p.Ser646Gly)
14g.67782798T>GCA390169997ZFYVE26c.4354A>C (p.Ser1452Arg)
n.4491A>C
c.*2350+301A>C (n.*2350+301A>C)
c.2845A>C (p.Ser949Arg)
c.2029A>C (p.Ser677Arg)
c.1936A>C (p.Ser646Arg)
14g.67782799C>ACA486774769ZFYVE26c.4353G>T (p.Leu1451=)
n.4490G>T
c.*2350+300G>T (n.*2350+300G>T)
c.2844G>T (p.Leu948=)
c.2028G>T (p.Leu676=)
c.1935G>T (p.Leu645=)
14g.67782799C=CA2144027630ZFYVE26c.4353G= (p.Leu1451=)
n.4490G=
c.*2350+300G= (n.*2350+300G=)
c.2844G= (p.Leu948=)
c.2028G= (p.Leu676=)
c.1935G= (p.Leu645=)
14g.67782799C>GCA486774770ZFYVE26c.4353G>C (p.Leu1451=)
n.4490G>C
c.*2350+300G>C (n.*2350+300G>C)
c.2844G>C (p.Leu948=)
c.2028G>C (p.Leu676=)
c.1935G>C (p.Leu645=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.67782799C>TCA486774771ZFYVE26c.4353G>A (p.Leu1451=)
n.4490G>A
c.*2350+300G>A (n.*2350+300G>A)
c.2844G>A (p.Leu948=)
c.2028G>A (p.Leu676=)
c.1935G>A (p.Leu645=)
14g.67782800A>CCA390169998ZFYVE26c.4352T>G (p.Leu1451Arg)
n.4489T>G
c.*2350+299T>G (n.*2350+299T>G)
c.2843T>G (p.Leu948Arg)
c.2027T>G (p.Leu676Arg)
c.1934T>G (p.Leu645Arg)
14g.67782800A>GCA390169999ZFYVE26c.4352T>C (p.Leu1451Pro)
n.4489T>C
c.*2350+299T>C (n.*2350+299T>C)
c.2843T>C (p.Leu948Pro)
c.2027T>C (p.Leu676Pro)
c.1934T>C (p.Leu645Pro)
14g.67782800A>TCA390170000ZFYVE26c.4352T>A (p.Leu1451Gln)
n.4489T>A
c.*2350+299T>A (n.*2350+299T>A)
c.2843T>A (p.Leu948Gln)
c.2027T>A (p.Leu676Gln)
c.1934T>A (p.Leu645Gln)
14g.67782801G>ACA486774772ZFYVE26c.4351C>T (p.Leu1451=)
n.4488C>T
c.*2350+298C>T (n.*2350+298C>T)
c.2842C>T (p.Leu948=)
c.2026C>T (p.Leu676=)
c.1933C>T (p.Leu645=)
14g.67782801G>CCA390170001ZFYVE26c.4351C>G (p.Leu1451Val)
n.4488C>G
c.*2350+298C>G (n.*2350+298C>G)
c.2842C>G (p.Leu948Val)
c.2026C>G (p.Leu676Val)
c.1933C>G (p.Leu645Val)
14g.67782801G>TCA390170002ZFYVE26c.4351C>A (p.Leu1451Met)
n.4488C>A
c.*2350+298C>A (n.*2350+298C>A)
c.2842C>A (p.Leu948Met)
c.2026C>A (p.Leu676Met)
c.1933C>A (p.Leu645Met)
14g.67782802G>ACA486774773ZFYVE26c.4350C>T (p.Val1450=)
n.4487C>T
c.*2350+297C>T (n.*2350+297C>T)
c.2841C>T (p.Val947=)
c.2025C>T (p.Val675=)
c.1932C>T (p.Val644=)
 ClinVar dbSNP COSMIC
14g.67782802G>CCA486774774ZFYVE26c.4350C>G (p.Val1450=)
n.4487C>G
c.*2350+297C>G (n.*2350+297C>G)
c.2841C>G (p.Val947=)
c.2025C>G (p.Val675=)
c.1932C>G (p.Val644=)
14g.67782802G=CA2144027631ZFYVE26c.4350C= (p.Val1450=)
n.4487C=
c.*2350+297C= (n.*2350+297C=)
c.2841C= (p.Val947=)
c.2025C= (p.Val675=)
c.1932C= (p.Val644=)
14g.67782802G>TCA486774775ZFYVE26c.4350C>A (p.Val1450=)
n.4487C>A
c.*2350+297C>A (n.*2350+297C>A)
c.2841C>A (p.Val947=)
c.2025C>A (p.Val675=)
c.1932C>A (p.Val644=)
 ClinVar dbSNP gnomAD v4
14g.67782803A>CCA390170003ZFYVE26c.4349T>G (p.Val1450Gly)
n.4486T>G
c.*2350+296T>G (n.*2350+296T>G)
c.2840T>G (p.Val947Gly)
c.2024T>G (p.Val675Gly)
c.1931T>G (p.Val644Gly)
14g.67782803A>GCA390170004ZFYVE26c.4349T>C (p.Val1450Ala)
n.4486T>C
c.*2350+296T>C (n.*2350+296T>C)
c.2840T>C (p.Val947Ala)
c.2024T>C (p.Val675Ala)
c.1931T>C (p.Val644Ala)
14g.67782803A>TCA390170005ZFYVE26c.4349T>A (p.Val1450Asp)
n.4486T>A
c.*2350+296T>A (n.*2350+296T>A)
c.2840T>A (p.Val947Asp)
c.2024T>A (p.Val675Asp)
c.1931T>A (p.Val644Asp)
14g.67782804C>ACA7239792ZFYVE26c.4348G>T (p.Val1450Phe)
n.4485G>T
c.*2350+295G>T (n.*2350+295G>T)
c.2839G>T (p.Val947Phe)
c.2023G>T (p.Val675Phe)
c.1930G>T (p.Val644Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782804C=CA2144027632ZFYVE26c.4348G= (p.Val1450=)
n.4485G=
c.*2350+295G= (n.*2350+295G=)
c.2839G= (p.Val947=)
c.2023G= (p.Val675=)
c.1930G= (p.Val644=)
14g.67782804C>GCA390170007ZFYVE26c.4348G>C (p.Val1450Leu)
n.4485G>C
c.*2350+295G>C (n.*2350+295G>C)
c.2839G>C (p.Val947Leu)
c.2023G>C (p.Val675Leu)
c.1930G>C (p.Val644Leu)
14g.67782804C>TCA390170006ZFYVE26c.4348G>A (p.Val1450Ile)
n.4485G>A
c.*2350+295G>A (n.*2350+295G>A)
c.2839G>A (p.Val947Ile)
c.2023G>A (p.Val675Ile)
c.1930G>A (p.Val644Ile)
14g.67782805T>ACA486774776ZFYVE26c.4347A>T (p.Ala1449=)
n.4484A>T
c.*2350+294A>T (n.*2350+294A>T)
c.2838A>T (p.Ala946=)
c.2022A>T (p.Ala674=)
c.1929A>T (p.Ala643=)
14g.67782805T>CCA486774777ZFYVE26c.4347A>G (p.Ala1449=)
n.4484A>G
c.*2350+294A>G (n.*2350+294A>G)
c.2838A>G (p.Ala946=)
c.2022A>G (p.Ala674=)
c.1929A>G (p.Ala643=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782805T>GCA486774778ZFYVE26c.4347A>C (p.Ala1449=)
n.4484A>C
c.*2350+294A>C (n.*2350+294A>C)
c.2838A>C (p.Ala946=)
c.2022A>C (p.Ala674=)
c.1929A>C (p.Ala643=)
14g.67782805T=CA2144027633ZFYVE26c.4347A= (p.Ala1449=)
n.4484A=
c.*2350+294A= (n.*2350+294A=)
c.2838A= (p.Ala946=)
c.2022A= (p.Ala674=)
c.1929A= (p.Ala643=)
14g.67782806G>ACA390170009ZFYVE26c.4346C>T (p.Ala1449Val)
n.4483C>T
c.*2350+293C>T (n.*2350+293C>T)
c.2837C>T (p.Ala946Val)
c.2021C>T (p.Ala674Val)
c.1928C>T (p.Ala643Val)
14g.67782806G>CCA390170010ZFYVE26c.4346C>G (p.Ala1449Gly)
n.4483C>G
c.*2350+293C>G (n.*2350+293C>G)
c.2837C>G (p.Ala946Gly)
c.2021C>G (p.Ala674Gly)
c.1928C>G (p.Ala643Gly)
14g.67782806G>TCA390170011ZFYVE26c.4346C>A (p.Ala1449Glu)
n.4483C>A
c.*2350+293C>A (n.*2350+293C>A)
c.2837C>A (p.Ala946Glu)
c.2021C>A (p.Ala674Glu)
c.1928C>A (p.Ala643Glu)
14g.67782807C>ACA390170012ZFYVE26c.4345G>T (p.Ala1449Ser)
n.4482G>T
c.*2350+292G>T (n.*2350+292G>T)
c.2836G>T (p.Ala946Ser)
c.2020G>T (p.Ala674Ser)
c.1927G>T (p.Ala643Ser)
14g.67782807C=CA2144027634ZFYVE26c.4345G= (p.Ala1449=)
n.4482G=
c.*2350+292G= (n.*2350+292G=)
c.2836G= (p.Ala946=)
c.2020G= (p.Ala674=)
c.1927G= (p.Ala643=)
14g.67782807C>GCA390170014ZFYVE26c.4345G>C (p.Ala1449Pro)
n.4482G>C
c.*2350+292G>C (n.*2350+292G>C)
c.2836G>C (p.Ala946Pro)
c.2020G>C (p.Ala674Pro)
c.1927G>C (p.Ala643Pro)
 dbSNP
14g.67782807C>TCA390170016ZFYVE26c.4345G>A (p.Ala1449Thr)
n.4482G>A
c.*2350+292G>A (n.*2350+292G>A)
c.2836G>A (p.Ala946Thr)
c.2020G>A (p.Ala674Thr)
c.1927G>A (p.Ala643Thr)
 ClinVar dbSNP
14g.67782808A>CCA390170017ZFYVE26c.4344T>G (p.Asp1448Glu)
n.4481T>G
c.*2350+291T>G (n.*2350+291T>G)
c.2835T>G (p.Asp945Glu)
c.2019T>G (p.Asp673Glu)
c.1926T>G (p.Asp642Glu)
14g.67782808A>GCA486774779ZFYVE26c.4344T>C (p.Asp1448=)
n.4481T>C
c.*2350+291T>C (n.*2350+291T>C)
c.2835T>C (p.Asp945=)
c.2019T>C (p.Asp673=)
c.1926T>C (p.Asp642=)
14g.67782808A>TCA390170019ZFYVE26c.4344T>A (p.Asp1448Glu)
n.4481T>A
c.*2350+291T>A (n.*2350+291T>A)
c.2835T>A (p.Asp945Glu)
c.2019T>A (p.Asp673Glu)
c.1926T>A (p.Asp642Glu)
14g.67782809T>ACA390170020ZFYVE26c.4343A>T (p.Asp1448Val)
n.4480A>T
c.*2350+290A>T (n.*2350+290A>T)
c.2834A>T (p.Asp945Val)
c.2018A>T (p.Asp673Val)
c.1925A>T (p.Asp642Val)
14g.67782809T>CCA390170021ZFYVE26c.4343A>G (p.Asp1448Gly)
n.4480A>G
c.*2350+290A>G (n.*2350+290A>G)
c.2834A>G (p.Asp945Gly)
c.2018A>G (p.Asp673Gly)
c.1925A>G (p.Asp642Gly)
14g.67782809T>GCA390170022ZFYVE26c.4343A>C (p.Asp1448Ala)
n.4480A>C
c.*2350+290A>C (n.*2350+290A>C)
c.2834A>C (p.Asp945Ala)
c.2018A>C (p.Asp673Ala)
c.1925A>C (p.Asp642Ala)
14g.67782810C>ACA390170025ZFYVE26c.4342G>T (p.Asp1448Tyr)
n.4479G>T
c.*2350+289G>T (n.*2350+289G>T)
c.2833G>T (p.Asp945Tyr)
c.2017G>T (p.Asp673Tyr)
c.1924G>T (p.Asp642Tyr)
14g.67782810C>GCA390170027ZFYVE26c.4342G>C (p.Asp1448His)
n.4479G>C
c.*2350+289G>C (n.*2350+289G>C)
c.2833G>C (p.Asp945His)
c.2017G>C (p.Asp673His)
c.1924G>C (p.Asp642His)
14g.67782810C>TCA390170029ZFYVE26c.4342G>A (p.Asp1448Asn)
n.4479G>A
c.*2350+289G>A (n.*2350+289G>A)
c.2833G>A (p.Asp945Asn)
c.2017G>A (p.Asp673Asn)
c.1924G>A (p.Asp642Asn)
 gnomAD v4
14g.67782810_67782811delinsTCA2580088638ZFYVE26c.4341_4342delinsA (p.Asp1448MetfsTer4)
n.4478_4479delinsA
c.*2350+288_*2350+289delinsA (n.*2350+288_*2350+289delinsA)
c.2832_2833delinsA (p.Asp945MetfsTer4)
c.2016_2017delinsA (p.Asp673MetfsTer4)
c.1923_1924delinsA (p.Asp642MetfsTer4)
 ClinVar
14g.67782811C>ACA390170031ZFYVE26c.4341G>T (p.Lys1447Asn)
n.4478G>T
c.*2350+288G>T (n.*2350+288G>T)
c.2832G>T (p.Lys944Asn)
c.2016G>T (p.Lys672Asn)
c.1923G>T (p.Lys641Asn)
14g.67782811C=CA2144027635ZFYVE26c.4341G= (p.Lys1447=)
n.4478G=
c.*2350+288G= (n.*2350+288G=)
c.2832G= (p.Lys944=)
c.2016G= (p.Lys672=)
c.1923G= (p.Lys641=)
14g.67782811C>GCA390170033ZFYVE26c.4341G>C (p.Lys1447Asn)
n.4478G>C
c.*2350+288G>C (n.*2350+288G>C)
c.2832G>C (p.Lys944Asn)
c.2016G>C (p.Lys672Asn)
c.1923G>C (p.Lys641Asn)
14g.67782811C>TCA486970508ZFYVE26c.4341G>A (p.Lys1447=)
n.4478G>A
c.*2350+288G>A (n.*2350+288G>A)
c.2832G>A (p.Lys944=)
c.2016G>A (p.Lys672=)
c.1923G>A (p.Lys641=)
 ClinVar dbSNP
14g.67782812T>ACA390170035ZFYVE26c.4340A>T (p.Lys1447Met)
n.4477A>T
c.*2350+287A>T (n.*2350+287A>T)
c.2831A>T (p.Lys944Met)
c.2015A>T (p.Lys672Met)
c.1922A>T (p.Lys641Met)
14g.67782812T>CCA390170037ZFYVE26c.4340A>G (p.Lys1447Arg)
n.4477A>G
c.*2350+287A>G (n.*2350+287A>G)
c.2831A>G (p.Lys944Arg)
c.2015A>G (p.Lys672Arg)
c.1922A>G (p.Lys641Arg)
14g.67782812T>GCA390170039ZFYVE26c.4340A>C (p.Lys1447Thr)
n.4477A>C
c.*2350+287A>C (n.*2350+287A>C)
c.2831A>C (p.Lys944Thr)
c.2015A>C (p.Lys672Thr)
c.1922A>C (p.Lys641Thr)
14g.67782813T>ACA390170041ZFYVE26c.4339A>T (p.Lys1447Ter)
n.4476A>T
c.*2350+286A>T (n.*2350+286A>T)
c.2830A>T (p.Lys944Ter)
c.2014A>T (p.Lys672Ter)
c.1921A>T (p.Lys641Ter)
 ClinVar
14g.67782813T>CCA390170043ZFYVE26c.4339A>G (p.Lys1447Glu)
n.4476A>G
c.*2350+286A>G (n.*2350+286A>G)
c.2830A>G (p.Lys944Glu)
c.2014A>G (p.Lys672Glu)
c.1921A>G (p.Lys641Glu)
14g.67782813T>GCA390170045ZFYVE26c.4339A>C (p.Lys1447Gln)
n.4476A>C
c.*2350+286A>C (n.*2350+286A>C)
c.2830A>C (p.Lys944Gln)
c.2014A>C (p.Lys672Gln)
c.1921A>C (p.Lys641Gln)
14g.67782814T>ACA7239793ZFYVE26c.4338A>T (p.Ile1446=)
n.4475A>T
c.*2350+285A>T (n.*2350+285A>T)
c.2829A>T (p.Ile943=)
c.2013A>T (p.Ile671=)
c.1920A>T (p.Ile640=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782814T>CCA390170047ZFYVE26c.4338A>G (p.Ile1446Met)
n.4475A>G
c.*2350+285A>G (n.*2350+285A>G)
c.2829A>G (p.Ile943Met)
c.2013A>G (p.Ile671Met)
c.1920A>G (p.Ile640Met)
 gnomAD v4
14g.67782814T>GCA486970509ZFYVE26c.4338A>C (p.Ile1446=)
n.4475A>C
c.*2350+285A>C (n.*2350+285A>C)
c.2829A>C (p.Ile943=)
c.2013A>C (p.Ile671=)
c.1920A>C (p.Ile640=)
14g.67782814T=CA2144027636ZFYVE26c.4338A= (p.Ile1446=)
n.4475A=
c.*2350+285A= (n.*2350+285A=)
c.2829A= (p.Ile943=)
c.2013A= (p.Ile671=)
c.1920A= (p.Ile640=)
14g.67782815A>CCA390170049ZFYVE26c.4337T>G (p.Ile1446Arg)
n.4474T>G
c.*2350+284T>G (n.*2350+284T>G)
c.2828T>G (p.Ile943Arg)
c.2012T>G (p.Ile671Arg)
c.1919T>G (p.Ile640Arg)
14g.67782815A>GCA390170051ZFYVE26c.4337T>C (p.Ile1446Thr)
n.4474T>C
c.*2350+284T>C (n.*2350+284T>C)
c.2828T>C (p.Ile943Thr)
c.2012T>C (p.Ile671Thr)
c.1919T>C (p.Ile640Thr)
14g.67782815A>TCA390170052ZFYVE26c.4337T>A (p.Ile1446Lys)
n.4474T>A
c.*2350+284T>A (n.*2350+284T>A)
c.2828T>A (p.Ile943Lys)
c.2012T>A (p.Ile671Lys)
c.1919T>A (p.Ile640Lys)
14g.67782816T>ACA390170054ZFYVE26c.4336A>T (p.Ile1446Leu)
n.4473A>T
c.*2350+283A>T (n.*2350+283A>T)
c.2827A>T (p.Ile943Leu)
c.2011A>T (p.Ile671Leu)
c.1918A>T (p.Ile640Leu)
14g.67782816T>CCA7239794ZFYVE26c.4336A>G (p.Ile1446Val)
n.4473A>G
c.*2350+283A>G (n.*2350+283A>G)
c.2827A>G (p.Ile943Val)
c.2011A>G (p.Ile671Val)
c.1918A>G (p.Ile640Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782816T>GCA390170053ZFYVE26c.4336A>C (p.Ile1446Leu)
n.4473A>C
c.*2350+283A>C (n.*2350+283A>C)
c.2827A>C (p.Ile943Leu)
c.2011A>C (p.Ile671Leu)
c.1918A>C (p.Ile640Leu)
14g.67782816T=CA2144027637ZFYVE26c.4336A= (p.Ile1446=)
n.4473A=
c.*2350+283A= (n.*2350+283A=)
c.2827A= (p.Ile943=)
c.2011A= (p.Ile671=)
c.1918A= (p.Ile640=)
14g.67782817G>ACA7239795ZFYVE26c.4335C>T (p.Ser1445=)
n.4472C>T
c.*2350+282C>T (n.*2350+282C>T)
c.2826C>T (p.Ser942=)
c.2010C>T (p.Ser670=)
c.1917C>T (p.Ser639=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782817G>CCA390170058ZFYVE26c.4335C>G (p.Ser1445Arg)
n.4472C>G
c.*2350+282C>G (n.*2350+282C>G)
c.2826C>G (p.Ser942Arg)
c.2010C>G (p.Ser670Arg)
c.1917C>G (p.Ser639Arg)
14g.67782817G=CA2144027638ZFYVE26c.4335C= (p.Ser1445=)
n.4472C=
c.*2350+282C= (n.*2350+282C=)
c.2826C= (p.Ser942=)
c.2010C= (p.Ser670=)
c.1917C= (p.Ser639=)
14g.67782817G>TCA390170056ZFYVE26c.4335C>A (p.Ser1445Arg)
n.4472C>A
c.*2350+282C>A (n.*2350+282C>A)
c.2826C>A (p.Ser942Arg)
c.2010C>A (p.Ser670Arg)
c.1917C>A (p.Ser639Arg)
 gnomAD v4 COSMIC
14g.67782818C>ACA390170060ZFYVE26c.4334G>T (p.Ser1445Ile)
n.4471G>T
c.*2350+281G>T (n.*2350+281G>T)
c.2825G>T (p.Ser942Ile)
c.2009G>T (p.Ser670Ile)
c.1916G>T (p.Ser639Ile)
14g.67782818C>GCA390170061ZFYVE26c.4334G>C (p.Ser1445Thr)
n.4471G>C
c.*2350+281G>C (n.*2350+281G>C)
c.2825G>C (p.Ser942Thr)
c.2009G>C (p.Ser670Thr)
c.1916G>C (p.Ser639Thr)
14g.67782818C>TCA390170062ZFYVE26c.4334G>A (p.Ser1445Asn)
n.4471G>A
c.*2350+281G>A (n.*2350+281G>A)
c.2825G>A (p.Ser942Asn)
c.2009G>A (p.Ser670Asn)
c.1916G>A (p.Ser639Asn)
14g.67782819T>ACA390170065ZFYVE26c.4333A>T (p.Ser1445Cys)
n.4470A>T
c.*2350+280A>T (n.*2350+280A>T)
c.2824A>T (p.Ser942Cys)
c.2008A>T (p.Ser670Cys)
c.1915A>T (p.Ser639Cys)
14g.67782819T>CCA390170067ZFYVE26c.4333A>G (p.Ser1445Gly)
n.4470A>G
c.*2350+280A>G (n.*2350+280A>G)
c.2824A>G (p.Ser942Gly)
c.2008A>G (p.Ser670Gly)
c.1915A>G (p.Ser639Gly)
14g.67782819T>GCA390170069ZFYVE26c.4333A>C (p.Ser1445Arg)
n.4470A>C
c.*2350+280A>C (n.*2350+280A>C)
c.2824A>C (p.Ser942Arg)
c.2008A>C (p.Ser670Arg)
c.1915A>C (p.Ser639Arg)
14g.67782820G>ACA486970516ZFYVE26c.4332C>T (p.Ser1444=)
n.4469C>T
c.*2350+279C>T (n.*2350+279C>T)
c.2823C>T (p.Ser941=)
c.2007C>T (p.Ser669=)
c.1914C>T (p.Ser638=)
14g.67782820G>CCA390170071ZFYVE26c.4332C>G (p.Ser1444Arg)
n.4469C>G
c.*2350+279C>G (n.*2350+279C>G)
c.2823C>G (p.Ser941Arg)
c.2007C>G (p.Ser669Arg)
c.1914C>G (p.Ser638Arg)
14g.67782820G>TCA390170073ZFYVE26c.4332C>A (p.Ser1444Arg)
n.4469C>A
c.*2350+279C>A (n.*2350+279C>A)
c.2823C>A (p.Ser941Arg)
c.2007C>A (p.Ser669Arg)
c.1914C>A (p.Ser638Arg)
14g.67782821C>ACA390170075ZFYVE26c.4331G>T (p.Ser1444Ile)
n.4468G>T
c.*2350+278G>T (n.*2350+278G>T)
c.2822G>T (p.Ser941Ile)
c.2006G>T (p.Ser669Ile)
c.1913G>T (p.Ser638Ile)
14g.67782821C>GCA390170077ZFYVE26c.4331G>C (p.Ser1444Thr)
n.4468G>C
c.*2350+278G>C (n.*2350+278G>C)
c.2822G>C (p.Ser941Thr)
c.2006G>C (p.Ser669Thr)
c.1913G>C (p.Ser638Thr)
14g.67782821C>TCA390170079ZFYVE26c.4331G>A (p.Ser1444Asn)
n.4468G>A
c.*2350+278G>A (n.*2350+278G>A)
c.2822G>A (p.Ser941Asn)
c.2006G>A (p.Ser669Asn)
c.1913G>A (p.Ser638Asn)
14g.67782822T>ACA390170085ZFYVE26c.4330A>T (p.Ser1444Cys)
n.4467A>T
c.*2350+277A>T (n.*2350+277A>T)
c.2821A>T (p.Ser941Cys)
c.2005A>T (p.Ser669Cys)
c.1912A>T (p.Ser638Cys)
 COSMIC
14g.67782822T>CCA390170083ZFYVE26c.4330A>G (p.Ser1444Gly)
n.4467A>G
c.*2350+277A>G (n.*2350+277A>G)
c.2821A>G (p.Ser941Gly)
c.2005A>G (p.Ser669Gly)
c.1912A>G (p.Ser638Gly)
14g.67782822T>GCA390170081ZFYVE26c.4330A>C (p.Ser1444Arg)
n.4467A>C
c.*2350+277A>C (n.*2350+277A>C)
c.2821A>C (p.Ser941Arg)
c.2005A>C (p.Ser669Arg)
c.1912A>C (p.Ser638Arg)
14g.67782823C>ACA390170087ZFYVE26c.4329G>T (p.Leu1443Phe)
n.4466G>T
c.*2350+276G>T (n.*2350+276G>T)
c.2820G>T (p.Leu940Phe)
c.2004G>T (p.Leu668Phe)
c.1911G>T (p.Leu637Phe)
 gnomAD v4
14g.67782823C=CA2144027639ZFYVE26c.4329G= (p.Leu1443=)
n.4466G=
c.*2350+276G= (n.*2350+276G=)
c.2820G= (p.Leu940=)
c.2004G= (p.Leu668=)
c.1911G= (p.Leu637=)
14g.67782823C>GCA390170089ZFYVE26c.4329G>C (p.Leu1443Phe)
n.4466G>C
c.*2350+276G>C (n.*2350+276G>C)
c.2820G>C (p.Leu940Phe)
c.2004G>C (p.Leu668Phe)
c.1911G>C (p.Leu637Phe)
14g.67782823C>TCA486970519ZFYVE26c.4329G>A (p.Leu1443=)
n.4466G>A
c.*2350+276G>A (n.*2350+276G>A)
c.2820G>A (p.Leu940=)
c.2004G>A (p.Leu668=)
c.1911G>A (p.Leu637=)
 ClinVar dbSNP gnomAD v4
14g.67782824A>CCA390170091ZFYVE26c.4328T>G (p.Leu1443Trp)
n.4465T>G
c.*2350+275T>G (n.*2350+275T>G)
c.2819T>G (p.Leu940Trp)
c.2003T>G (p.Leu668Trp)
c.1910T>G (p.Leu637Trp)
14g.67782824A>GCA390170092ZFYVE26c.4328T>C (p.Leu1443Ser)
n.4465T>C
c.*2350+275T>C (n.*2350+275T>C)
c.2819T>C (p.Leu940Ser)
c.2003T>C (p.Leu668Ser)
c.1910T>C (p.Leu637Ser)
14g.67782824A>TCA390170094ZFYVE26c.4328T>A (p.Leu1443Ter)
n.4465T>A
c.*2350+275T>A (n.*2350+275T>A)
c.2819T>A (p.Leu940Ter)
c.2003T>A (p.Leu668Ter)
c.1910T>A (p.Leu637Ter)
14g.67782825A>CCA390170095ZFYVE26c.4327T>G (p.Leu1443Val)
n.4464T>G
c.*2350+274T>G (n.*2350+274T>G)
c.2818T>G (p.Leu940Val)
c.2002T>G (p.Leu668Val)
c.1909T>G (p.Leu637Val)
14g.67782825A>GCA486970522ZFYVE26c.4327T>C (p.Leu1443=)
n.4464T>C
c.*2350+274T>C (n.*2350+274T>C)
c.2818T>C (p.Leu940=)
c.2002T>C (p.Leu668=)
c.1909T>C (p.Leu637=)
14g.67782825A>TCA390170096ZFYVE26c.4327T>A (p.Leu1443Met)
n.4464T>A
c.*2350+274T>A (n.*2350+274T>A)
c.2818T>A (p.Leu940Met)
c.2002T>A (p.Leu668Met)
c.1909T>A (p.Leu637Met)
14g.67782826A>CCA390170099ZFYVE26c.4326T>G (p.Asp1442Glu)
n.4463T>G
c.*2350+273T>G (n.*2350+273T>G)
c.2817T>G (p.Asp939Glu)
c.2001T>G (p.Asp667Glu)
c.1908T>G (p.Asp636Glu)
14g.67782826A>GCA486970526ZFYVE26c.4326T>C (p.Asp1442=)
n.4463T>C
c.*2350+273T>C (n.*2350+273T>C)
c.2817T>C (p.Asp939=)
c.2001T>C (p.Asp667=)
c.1908T>C (p.Asp636=)
14g.67782826A>TCA390170101ZFYVE26c.4326T>A (p.Asp1442Glu)
n.4463T>A
c.*2350+273T>A (n.*2350+273T>A)
c.2817T>A (p.Asp939Glu)
c.2001T>A (p.Asp667Glu)
c.1908T>A (p.Asp636Glu)
14g.67782827T>ACA390170103ZFYVE26c.4325A>T (p.Asp1442Val)
n.4462A>T
c.*2350+272A>T (n.*2350+272A>T)
c.2816A>T (p.Asp939Val)
c.2000A>T (p.Asp667Val)
c.1907A>T (p.Asp636Val)
14g.67782827T>CCA390170104ZFYVE26c.4325A>G (p.Asp1442Gly)
n.4462A>G
c.*2350+272A>G (n.*2350+272A>G)
c.2816A>G (p.Asp939Gly)
c.2000A>G (p.Asp667Gly)
c.1907A>G (p.Asp636Gly)
14g.67782827T>GCA390170106ZFYVE26c.4325A>C (p.Asp1442Ala)
n.4462A>C
c.*2350+272A>C (n.*2350+272A>C)
c.2816A>C (p.Asp939Ala)
c.2000A>C (p.Asp667Ala)
c.1907A>C (p.Asp636Ala)
14g.67782828C>ACA390170110ZFYVE26c.4324G>T (p.Asp1442Tyr)
n.4461G>T
c.*2350+271G>T (n.*2350+271G>T)
c.2815G>T (p.Asp939Tyr)
c.1999G>T (p.Asp667Tyr)
c.1906G>T (p.Asp636Tyr)
14g.67782828C=CA2144027640ZFYVE26c.4324G= (p.Asp1442=)
n.4461G=
c.*2350+271G= (n.*2350+271G=)
c.2815G= (p.Asp939=)
c.1999G= (p.Asp667=)
c.1906G= (p.Asp636=)
14g.67782828C>GCA390170109ZFYVE26c.4324G>C (p.Asp1442His)
n.4461G>C
c.*2350+271G>C (n.*2350+271G>C)
c.2815G>C (p.Asp939His)
c.1999G>C (p.Asp667His)
c.1906G>C (p.Asp636His)
14g.67782828C>TCA337036ZFYVE26c.4324G>A (p.Asp1442Asn)
n.4461G>A
c.*2350+271G>A (n.*2350+271G>A)
c.2815G>A (p.Asp939Asn)
c.1999G>A (p.Asp667Asn)
c.1906G>A (p.Asp636Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782829G>ACA7239796ZFYVE26c.4323C>T (p.Asp1441=)
n.4460C>T
c.*2350+270C>T (n.*2350+270C>T)
c.2814C>T (p.Asp938=)
c.1998C>T (p.Asp666=)
c.1905C>T (p.Asp635=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782829G>CCA390170112ZFYVE26c.4323C>G (p.Asp1441Glu)
n.4460C>G
c.*2350+270C>G (n.*2350+270C>G)
c.2814C>G (p.Asp938Glu)
c.1998C>G (p.Asp666Glu)
c.1905C>G (p.Asp635Glu)
14g.67782829G=CA2144027641ZFYVE26c.4323C= (p.Asp1441=)
n.4460C=
c.*2350+270C= (n.*2350+270C=)
c.2814C= (p.Asp938=)
c.1998C= (p.Asp666=)
c.1905C= (p.Asp635=)
14g.67782829G>TCA390170114ZFYVE26c.4323C>A (p.Asp1441Glu)
n.4460C>A
c.*2350+270C>A (n.*2350+270C>A)
c.2814C>A (p.Asp938Glu)
c.1998C>A (p.Asp666Glu)
c.1905C>A (p.Asp635Glu)
 ClinVar dbSNP gnomAD v4
14g.67782830T>ACA390170116ZFYVE26c.4322A>T (p.Asp1441Val)
n.4459A>T
c.*2350+269A>T (n.*2350+269A>T)
c.2813A>T (p.Asp938Val)
c.1997A>T (p.Asp666Val)
c.1904A>T (p.Asp635Val)
14g.67782830T>CCA390170118ZFYVE26c.4322A>G (p.Asp1441Gly)
n.4459A>G
c.*2350+269A>G (n.*2350+269A>G)
c.2813A>G (p.Asp938Gly)
c.1997A>G (p.Asp666Gly)
c.1904A>G (p.Asp635Gly)
 COSMIC
14g.67782830T>GCA390170120ZFYVE26c.4322A>C (p.Asp1441Ala)
n.4459A>C
c.*2350+269A>C (n.*2350+269A>C)
c.2813A>C (p.Asp938Ala)
c.1997A>C (p.Asp666Ala)
c.1904A>C (p.Asp635Ala)
14g.67782831C>ACA390170122ZFYVE26c.4321G>T (p.Asp1441Tyr)
n.4458G>T
c.*2350+268G>T (n.*2350+268G>T)
c.2812G>T (p.Asp938Tyr)
c.1996G>T (p.Asp666Tyr)
c.1903G>T (p.Asp635Tyr)
14g.67782831C>GCA390170123ZFYVE26c.4321G>C (p.Asp1441His)
n.4458G>C
c.*2350+268G>C (n.*2350+268G>C)
c.2812G>C (p.Asp938His)
c.1996G>C (p.Asp666His)
c.1903G>C (p.Asp635His)
14g.67782831C>TCA390170125ZFYVE26c.4321G>A (p.Asp1441Asn)
n.4458G>A
c.*2350+268G>A (n.*2350+268G>A)
c.2812G>A (p.Asp938Asn)
c.1996G>A (p.Asp666Asn)
c.1903G>A (p.Asp635Asn)
14g.67782832C>ACA486970530ZFYVE26c.4320G>T (p.Val1440=)
n.4457G>T
c.*2350+267G>T (n.*2350+267G>T)
c.2811G>T (p.Val937=)
c.1995G>T (p.Val665=)
c.1902G>T (p.Val634=)
14g.67782832C>GCA486970531ZFYVE26c.4320G>C (p.Val1440=)
n.4457G>C
c.*2350+267G>C (n.*2350+267G>C)
c.2811G>C (p.Val937=)
c.1995G>C (p.Val665=)
c.1902G>C (p.Val634=)
14g.67782832C>TCA486970532ZFYVE26c.4320G>A (p.Val1440=)
n.4457G>A
c.*2350+267G>A (n.*2350+267G>A)
c.2811G>A (p.Val937=)
c.1995G>A (p.Val665=)
c.1902G>A (p.Val634=)
 gnomAD v4
14g.67782833A>CCA390170128ZFYVE26c.4319T>G (p.Val1440Gly)
n.4456T>G
c.*2350+266T>G (n.*2350+266T>G)
c.2810T>G (p.Val937Gly)
c.1994T>G (p.Val665Gly)
c.1901T>G (p.Val634Gly)
14g.67782833A>GCA390170129ZFYVE26c.4319T>C (p.Val1440Ala)
n.4456T>C
c.*2350+266T>C (n.*2350+266T>C)
c.2810T>C (p.Val937Ala)
c.1994T>C (p.Val665Ala)
c.1901T>C (p.Val634Ala)
14g.67782833A>TCA390170131ZFYVE26c.4319T>A (p.Val1440Glu)
n.4456T>A
c.*2350+266T>A (n.*2350+266T>A)
c.2810T>A (p.Val937Glu)
c.1994T>A (p.Val665Glu)
c.1901T>A (p.Val634Glu)
14g.67782834C>ACA390170135ZFYVE26c.4318G>T (p.Val1440Leu)
n.4455G>T
c.*2350+265G>T (n.*2350+265G>T)
c.2809G>T (p.Val937Leu)
c.1993G>T (p.Val665Leu)
c.1900G>T (p.Val634Leu)
14g.67782834C>GCA390170137ZFYVE26c.4318G>C (p.Val1440Leu)
n.4455G>C
c.*2350+265G>C (n.*2350+265G>C)
c.2809G>C (p.Val937Leu)
c.1993G>C (p.Val665Leu)
c.1900G>C (p.Val634Leu)
14g.67782834C>TCA390170133ZFYVE26c.4318G>A (p.Val1440Met)
n.4455G>A
c.*2350+265G>A (n.*2350+265G>A)
c.2809G>A (p.Val937Met)
c.1993G>A (p.Val665Met)
c.1900G>A (p.Val634Met)
14g.67782835A=CA2144027642ZFYVE26c.4317T= (p.Asp1439=)
n.4454T=
c.*2350+264T= (n.*2350+264T=)
c.2808T= (p.Asp936=)
c.1992T= (p.Asp664=)
c.1899T= (p.Asp633=)
14g.67782835A>CCA390170138ZFYVE26c.4317T>G (p.Asp1439Glu)
n.4454T>G
c.*2350+264T>G (n.*2350+264T>G)
c.2808T>G (p.Asp936Glu)
c.1992T>G (p.Asp664Glu)
c.1899T>G (p.Asp633Glu)
14g.67782835A>GCA486970537ZFYVE26c.4317T>C (p.Asp1439=)
n.4454T>C
c.*2350+264T>C (n.*2350+264T>C)
c.2808T>C (p.Asp936=)
c.1992T>C (p.Asp664=)
c.1899T>C (p.Asp633=)
 dbSNP gnomAD v4
14g.67782835A>TCA390170140ZFYVE26c.4317T>A (p.Asp1439Glu)
n.4454T>A
c.*2350+264T>A (n.*2350+264T>A)
c.2808T>A (p.Asp936Glu)
c.1992T>A (p.Asp664Glu)
c.1899T>A (p.Asp633Glu)
14g.67782836T>ACA390170142ZFYVE26c.4316A>T (p.Asp1439Val)
n.4453A>T
c.*2350+263A>T (n.*2350+263A>T)
c.2807A>T (p.Asp936Val)
c.1991A>T (p.Asp664Val)
c.1898A>T (p.Asp633Val)
14g.67782836T>CCA390170144ZFYVE26c.4316A>G (p.Asp1439Gly)
n.4453A>G
c.*2350+263A>G (n.*2350+263A>G)
c.2807A>G (p.Asp936Gly)
c.1991A>G (p.Asp664Gly)
c.1898A>G (p.Asp633Gly)
 ClinVar dbSNP
14g.67782836T>GCA390170146ZFYVE26c.4316A>C (p.Asp1439Ala)
n.4453A>C
c.*2350+263A>C (n.*2350+263A>C)
c.2807A>C (p.Asp936Ala)
c.1991A>C (p.Asp664Ala)
c.1898A>C (p.Asp633Ala)
14g.67782836T=CA2144027643ZFYVE26c.4316A= (p.Asp1439=)
n.4453A=
c.*2350+263A= (n.*2350+263A=)
c.2807A= (p.Asp936=)
c.1991A= (p.Asp664=)
c.1898A= (p.Asp633=)
14g.67782837C>ACA390170152ZFYVE26c.4315G>T (p.Asp1439Tyr)
n.4452G>T
c.*2350+262G>T (n.*2350+262G>T)
c.2806G>T (p.Asp936Tyr)
c.1990G>T (p.Asp664Tyr)
c.1897G>T (p.Asp633Tyr)
14g.67782837C>GCA390170148ZFYVE26c.4315G>C (p.Asp1439His)
n.4452G>C
c.*2350+262G>C (n.*2350+262G>C)
c.2806G>C (p.Asp936His)
c.1990G>C (p.Asp664His)
c.1897G>C (p.Asp633His)
14g.67782837C>TCA390170150ZFYVE26c.4315G>A (p.Asp1439Asn)
n.4452G>A
c.*2350+262G>A (n.*2350+262G>A)
c.2806G>A (p.Asp936Asn)
c.1990G>A (p.Asp664Asn)
c.1897G>A (p.Asp633Asn)
14g.67782838T>ACA486970539ZFYVE26c.4314A>T (p.Arg1438=)
n.4451A>T
c.*2350+261A>T (n.*2350+261A>T)
c.2805A>T (p.Arg935=)
c.1989A>T (p.Arg663=)
c.1896A>T (p.Arg632=)
14g.67782838T>CCA486970540ZFYVE26c.4314A>G (p.Arg1438=)
n.4451A>G
c.*2350+261A>G (n.*2350+261A>G)
c.2805A>G (p.Arg935=)
c.1989A>G (p.Arg663=)
c.1896A>G (p.Arg632=)
14g.67782838T>GCA486970541ZFYVE26c.4314A>C (p.Arg1438=)
n.4451A>C
c.*2350+261A>C (n.*2350+261A>C)
c.2805A>C (p.Arg935=)
c.1989A>C (p.Arg663=)
c.1896A>C (p.Arg632=)
14g.67782839C>ACA390170153ZFYVE26c.4313G>T (p.Arg1438Leu)
n.4450G>T
c.*2350+260G>T (n.*2350+260G>T)
c.2804G>T (p.Arg935Leu)
c.1988G>T (p.Arg663Leu)
c.1895G>T (p.Arg632Leu)
14g.67782839C=CA2144027644ZFYVE26c.4313G= (p.Arg1438=)
n.4450G=
c.*2350+260G= (n.*2350+260G=)
c.2804G= (p.Arg935=)
c.1988G= (p.Arg663=)
c.1895G= (p.Arg632=)
14g.67782839C>GCA390170155ZFYVE26c.4313G>C (p.Arg1438Pro)
n.4450G>C
c.*2350+260G>C (n.*2350+260G>C)
c.2804G>C (p.Arg935Pro)
c.1988G>C (p.Arg663Pro)
c.1895G>C (p.Arg632Pro)
14g.67782839C>TCA7239797ZFYVE26c.4313G>A (p.Arg1438Gln)
n.4450G>A
c.*2350+260G>A (n.*2350+260G>A)
c.2804G>A (p.Arg935Gln)
c.1988G>A (p.Arg663Gln)
c.1895G>A (p.Arg632Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.67782840G>ACA114476ZFYVE26c.4312C>T (p.Arg1438Ter)
n.4449C>T
c.*2350+259C>T (n.*2350+259C>T)
c.2803C>T (p.Arg935Ter)
c.1987C>T (p.Arg663Ter)
c.1894C>T (p.Arg632Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782840G>CCA390170159ZFYVE26c.4312C>G (p.Arg1438Gly)
n.4449C>G
c.*2350+259C>G (n.*2350+259C>G)
c.2803C>G (p.Arg935Gly)
c.1987C>G (p.Arg663Gly)
c.1894C>G (p.Arg632Gly)
14g.67782840G=CA2144027645ZFYVE26c.4312C= (p.Arg1438=)
n.4449C=
c.*2350+259C= (n.*2350+259C=)
c.2803C= (p.Arg935=)
c.1987C= (p.Arg663=)
c.1894C= (p.Arg632=)
14g.67782840G>TCA486970543ZFYVE26c.4312C>A (p.Arg1438=)
n.4449C>A
c.*2350+259C>A (n.*2350+259C>A)
c.2803C>A (p.Arg935=)
c.1987C>A (p.Arg663=)
c.1894C>A (p.Arg632=)
 ClinVar
14g.67782841C>ACA486970547ZFYVE26c.4311G>T (p.Gly1437=)
n.4448G>T
c.*2350+258G>T (n.*2350+258G>T)
c.2802G>T (p.Gly934=)
c.1986G>T (p.Gly662=)
c.1893G>T (p.Gly631=)
14g.67782841C>GCA486970548ZFYVE26c.4311G>C (p.Gly1437=)
n.4448G>C
c.*2350+258G>C (n.*2350+258G>C)
c.2802G>C (p.Gly934=)
c.1986G>C (p.Gly662=)
c.1893G>C (p.Gly631=)
14g.67782841C>TCA486970546ZFYVE26c.4311G>A (p.Gly1437=)
n.4448G>A
c.*2350+258G>A (n.*2350+258G>A)
c.2802G>A (p.Gly934=)
c.1986G>A (p.Gly662=)
c.1893G>A (p.Gly631=)
14g.67782842C>ACA390170165ZFYVE26c.4310G>T (p.Gly1437Val)
n.4447G>T
c.*2350+257G>T (n.*2350+257G>T)
c.2801G>T (p.Gly934Val)
c.1985G>T (p.Gly662Val)
c.1892G>T (p.Gly631Val)
14g.67782842C=CA2144027646ZFYVE26c.4310G= (p.Gly1437=)
n.4447G=
c.*2350+257G= (n.*2350+257G=)
c.2801G= (p.Gly934=)
c.1985G= (p.Gly662=)
c.1892G= (p.Gly631=)
14g.67782842C>GCA390170163ZFYVE26c.4310G>C (p.Gly1437Ala)
n.4447G>C
c.*2350+257G>C (n.*2350+257G>C)
c.2801G>C (p.Gly934Ala)
c.1985G>C (p.Gly662Ala)
c.1892G>C (p.Gly631Ala)
14g.67782842C>TCA390170161ZFYVE26c.4310G>A (p.Gly1437Glu)
n.4447G>A
c.*2350+257G>A (n.*2350+257G>A)
c.2801G>A (p.Gly934Glu)
c.1985G>A (p.Gly662Glu)
c.1892G>A (p.Gly631Glu)
 dbSNP gnomAD v2 gnomAD v4
14g.67782843C>ACA390170167ZFYVE26c.4309G>T (p.Gly1437Trp)
n.4446G>T
c.*2350+256G>T (n.*2350+256G>T)
c.2800G>T (p.Gly934Trp)
c.1984G>T (p.Gly662Trp)
c.1891G>T (p.Gly631Trp)
14g.67782843C=CA2144027647ZFYVE26c.4309G= (p.Gly1437=)
n.4446G=
c.*2350+256G= (n.*2350+256G=)
c.2800G= (p.Gly934=)
c.1984G= (p.Gly662=)
c.1891G= (p.Gly631=)
14g.67782843C>GCA390170170ZFYVE26c.4309G>C (p.Gly1437Arg)
n.4446G>C
c.*2350+256G>C (n.*2350+256G>C)
c.2800G>C (p.Gly934Arg)
c.1984G>C (p.Gly662Arg)
c.1891G>C (p.Gly631Arg)
14g.67782843C>TCA7239798ZFYVE26c.4309G>A (p.Gly1437Arg)
n.4446G>A
c.*2350+256G>A (n.*2350+256G>A)
c.2800G>A (p.Gly934Arg)
c.1984G>A (p.Gly662Arg)
c.1891G>A (p.Gly631Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.67782844G>ACA262848518ZFYVE26c.4308C>T (p.Tyr1436=)
n.4445C>T
c.*2350+255C>T (n.*2350+255C>T)
c.2799C>T (p.Tyr933=)
c.1983C>T (p.Tyr661=)
c.1890C>T (p.Tyr630=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.67782844G>CCA390170175ZFYVE26c.4308C>G (p.Tyr1436Ter)
n.4445C>G
c.*2350+255C>G (n.*2350+255C>G)
c.2799C>G (p.Tyr933Ter)
c.1983C>G (p.Tyr661Ter)
c.1890C>G (p.Tyr630Ter)
 ClinVar
14g.67782844G=CA2144027648ZFYVE26c.4308C= (p.Tyr1436=)
n.4445C=
c.*2350+255C= (n.*2350+255C=)
c.2799C= (p.Tyr933=)
c.1983C= (p.Tyr661=)
c.1890C= (p.Tyr630=)
14g.67782844G>TCA390170173ZFYVE26c.4308C>A (p.Tyr1436Ter)
n.4445C>A
c.*2350+255C>A (n.*2350+255C>A)
c.2799C>A (p.Tyr933Ter)
c.1983C>A (p.Tyr661Ter)
c.1890C>A (p.Tyr630Ter)
14g.67782845T>ACA390170179ZFYVE26c.4307A>T (p.Tyr1436Phe)
n.4444A>T
c.*2350+254A>T (n.*2350+254A>T)
c.2798A>T (p.Tyr933Phe)
c.1982A>T (p.Tyr661Phe)
c.1889A>T (p.Tyr630Phe)
14g.67782845T>CCA390170182ZFYVE26c.4307A>G (p.Tyr1436Cys)
n.4444A>G
c.*2350+254A>G (n.*2350+254A>G)
c.2798A>G (p.Tyr933Cys)
c.1982A>G (p.Tyr661Cys)
c.1889A>G (p.Tyr630Cys)
14g.67782845T>GCA390170180ZFYVE26c.4307A>C (p.Tyr1436Ser)
n.4444A>C
c.*2350+254A>C (n.*2350+254A>C)
c.2798A>C (p.Tyr933Ser)
c.1982A>C (p.Tyr661Ser)
c.1889A>C (p.Tyr630Ser)
14g.67782846A>CCA390170184ZFYVE26c.4306T>G (p.Tyr1436Asp)
n.4443T>G
c.*2350+253T>G (n.*2350+253T>G)
c.2797T>G (p.Tyr933Asp)
c.1981T>G (p.Tyr661Asp)
c.1888T>G (p.Tyr630Asp)
14g.67782846A>GCA390170186ZFYVE26c.4306T>C (p.Tyr1436His)
n.4443T>C
c.*2350+253T>C (n.*2350+253T>C)
c.2797T>C (p.Tyr933His)
c.1981T>C (p.Tyr661His)
c.1888T>C (p.Tyr630His)
14g.67782846A>TCA390170188ZFYVE26c.4306T>A (p.Tyr1436Asn)
n.4443T>A
c.*2350+253T>A (n.*2350+253T>A)
c.2797T>A (p.Tyr933Asn)
c.1981T>A (p.Tyr661Asn)
c.1888T>A (p.Tyr630Asn)
14g.67782847C>ACA486970553ZFYVE26c.4305G>T (p.Val1435=)
n.4442G>T
c.*2350+252G>T (n.*2350+252G>T)
c.2796G>T (p.Val932=)
c.1980G>T (p.Val660=)
c.1887G>T (p.Val629=)
14g.67782847C=CA2144027649ZFYVE26c.4305G= (p.Val1435=)
n.4442G=
c.*2350+252G= (n.*2350+252G=)
c.2796G= (p.Val932=)
c.1980G= (p.Val660=)
c.1887G= (p.Val629=)
14g.67782847C>GCA7239800ZFYVE26c.4305G>C (p.Val1435=)
n.4442G>C
c.*2350+252G>C (n.*2350+252G>C)
c.2796G>C (p.Val932=)
c.1980G>C (p.Val660=)
c.1887G>C (p.Val629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782847C>TCA7239799ZFYVE26c.4305G>A (p.Val1435=)
n.4442G>A
c.*2350+252G>A (n.*2350+252G>A)
c.2796G>A (p.Val932=)
c.1980G>A (p.Val660=)
c.1887G>A (p.Val629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782848A=CA2144027650ZFYVE26c.4304T= (p.Val1435=)
n.4441T=
c.*2350+251T= (n.*2350+251T=)
c.2795T= (p.Val932=)
c.1979T= (p.Val660=)
c.1886T= (p.Val629=)
14g.67782848A>CCA390170191ZFYVE26c.4304T>G (p.Val1435Gly)
n.4441T>G
c.*2350+251T>G (n.*2350+251T>G)
c.2795T>G (p.Val932Gly)
c.1979T>G (p.Val660Gly)
c.1886T>G (p.Val629Gly)
 ClinVar dbSNP
14g.67782848A>GCA390170193ZFYVE26c.4304T>C (p.Val1435Ala)
n.4441T>C
c.*2350+251T>C (n.*2350+251T>C)
c.2795T>C (p.Val932Ala)
c.1979T>C (p.Val660Ala)
c.1886T>C (p.Val629Ala)
14g.67782848A>TCA390170194ZFYVE26c.4304T>A (p.Val1435Glu)
n.4441T>A
c.*2350+251T>A (n.*2350+251T>A)
c.2795T>A (p.Val932Glu)
c.1979T>A (p.Val660Glu)
c.1886T>A (p.Val629Glu)
 ClinVar
14g.67782849C>ACA390170197ZFYVE26c.4303G>T (p.Val1435Leu)
n.4440G>T
c.*2350+250G>T (n.*2350+250G>T)
c.2794G>T (p.Val932Leu)
c.1978G>T (p.Val660Leu)
c.1885G>T (p.Val629Leu)
14g.67782849C=CA2144027651ZFYVE26c.4303G= (p.Val1435=)
n.4440G=
c.*2350+250G= (n.*2350+250G=)
c.2794G= (p.Val932=)
c.1978G= (p.Val660=)
c.1885G= (p.Val629=)
14g.67782849C>GCA390170199ZFYVE26c.4303G>C (p.Val1435Leu)
n.4440G>C
c.*2350+250G>C (n.*2350+250G>C)
c.2794G>C (p.Val932Leu)
c.1978G>C (p.Val660Leu)
c.1885G>C (p.Val629Leu)
14g.67782849C>TCA262848523ZFYVE26c.4303G>A (p.Val1435Met)
n.4440G>A
c.*2350+250G>A (n.*2350+250G>A)
c.2794G>A (p.Val932Met)
c.1978G>A (p.Val660Met)
c.1885G>A (p.Val629Met)
 dbSNP
14g.67782850T>ACA390170202ZFYVE26c.4302A>T (p.Glu1434Asp)
n.4439A>T
c.*2350+249A>T (n.*2350+249A>T)
c.2793A>T (p.Glu931Asp)
c.1977A>T (p.Glu659Asp)
c.1884A>T (p.Glu628Asp)
 ClinVar dbSNP
14g.67782850T>CCA7239801ZFYVE26c.4302A>G (p.Glu1434=)
n.4439A>G
c.*2350+249A>G (n.*2350+249A>G)
c.2793A>G (p.Glu931=)
c.1977A>G (p.Glu659=)
c.1884A>G (p.Glu628=)
 dbSNP ExAC gnomAD v4
14g.67782850T>GCA390170204ZFYVE26c.4302A>C (p.Glu1434Asp)
n.4439A>C
c.*2350+249A>C (n.*2350+249A>C)
c.2793A>C (p.Glu931Asp)
c.1977A>C (p.Glu659Asp)
c.1884A>C (p.Glu628Asp)
14g.67782850T=CA2144027652ZFYVE26c.4302A= (p.Glu1434=)
n.4439A=
c.*2350+249A= (n.*2350+249A=)
c.2793A= (p.Glu931=)
c.1977A= (p.Glu659=)
c.1884A= (p.Glu628=)
14g.67782851T>ACA390170206ZFYVE26c.4301A>T (p.Glu1434Val)
n.4438A>T
c.*2350+248A>T (n.*2350+248A>T)
c.2792A>T (p.Glu931Val)
c.1976A>T (p.Glu659Val)
c.1883A>T (p.Glu628Val)
14g.67782851T>CCA390170208ZFYVE26c.4301A>G (p.Glu1434Gly)
n.4438A>G
c.*2350+248A>G (n.*2350+248A>G)
c.2792A>G (p.Glu931Gly)
c.1976A>G (p.Glu659Gly)
c.1883A>G (p.Glu628Gly)
14g.67782851T>GCA7239802ZFYVE26c.4301A>C (p.Glu1434Ala)
n.4438A>C
c.*2350+248A>C (n.*2350+248A>C)
c.2792A>C (p.Glu931Ala)
c.1976A>C (p.Glu659Ala)
c.1883A>C (p.Glu628Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782851T=CA2144027653ZFYVE26c.4301A= (p.Glu1434=)
n.4438A=
c.*2350+248A= (n.*2350+248A=)
c.2792A= (p.Glu931=)
c.1976A= (p.Glu659=)
c.1883A= (p.Glu628=)
14g.67782852C>ACA390170211ZFYVE26c.4300G>T (p.Glu1434Ter)
n.4437G>T
c.*2350+247G>T (n.*2350+247G>T)
c.2791G>T (p.Glu931Ter)
c.1975G>T (p.Glu659Ter)
c.1882G>T (p.Glu628Ter)
14g.67782852C>GCA390170213ZFYVE26c.4300G>C (p.Glu1434Gln)
n.4437G>C
c.*2350+247G>C (n.*2350+247G>C)
c.2791G>C (p.Glu931Gln)
c.1975G>C (p.Glu659Gln)
c.1882G>C (p.Glu628Gln)
14g.67782852C>TCA390170215ZFYVE26c.4300G>A (p.Glu1434Lys)
n.4437G>A
c.*2350+247G>A (n.*2350+247G>A)
c.2791G>A (p.Glu931Lys)
c.1975G>A (p.Glu659Lys)
c.1882G>A (p.Glu628Lys)
14g.67782853A>CCA486970555ZFYVE26c.4299T>G (p.Thr1433=)
n.4436T>G
c.*2350+246T>G (n.*2350+246T>G)
c.2790T>G (p.Thr930=)
c.1974T>G (p.Thr658=)
c.1881T>G (p.Thr627=)
14g.67782853A>GCA486970557ZFYVE26c.4299T>C (p.Thr1433=)
n.4436T>C
c.*2350+246T>C (n.*2350+246T>C)
c.2790T>C (p.Thr930=)
c.1974T>C (p.Thr658=)
c.1881T>C (p.Thr627=)
14g.67782853A>TCA486970559ZFYVE26c.4299T>A (p.Thr1433=)
n.4436T>A
c.*2350+246T>A (n.*2350+246T>A)
c.2790T>A (p.Thr930=)
c.1974T>A (p.Thr658=)
c.1881T>A (p.Thr627=)
14g.67782854G>ACA390170216ZFYVE26c.4298C>T (p.Thr1433Ile)
n.4435C>T
c.*2350+245C>T (n.*2350+245C>T)
c.2789C>T (p.Thr930Ile)
c.1973C>T (p.Thr658Ile)
c.1880C>T (p.Thr627Ile)
14g.67782854G>CCA390170218ZFYVE26c.4298C>G (p.Thr1433Ser)
n.4435C>G
c.*2350+245C>G (n.*2350+245C>G)
c.2789C>G (p.Thr930Ser)
c.1973C>G (p.Thr658Ser)
c.1880C>G (p.Thr627Ser)
14g.67782854G>TCA390170220ZFYVE26c.4298C>A (p.Thr1433Asn)
n.4435C>A
c.*2350+245C>A (n.*2350+245C>A)
c.2789C>A (p.Thr930Asn)
c.1973C>A (p.Thr658Asn)
c.1880C>A (p.Thr627Asn)
14g.67782855T>ACA390170224ZFYVE26c.4297A>T (p.Thr1433Ser)
n.4434A>T
c.*2350+244A>T (n.*2350+244A>T)
c.2788A>T (p.Thr930Ser)
c.1972A>T (p.Thr658Ser)
c.1879A>T (p.Thr627Ser)
14g.67782855T>CCA7239803ZFYVE26c.4297A>G (p.Thr1433Ala)
n.4434A>G
c.*2350+244A>G (n.*2350+244A>G)
c.2788A>G (p.Thr930Ala)
c.1972A>G (p.Thr658Ala)
c.1879A>G (p.Thr627Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782855T>GCA390170222ZFYVE26c.4297A>C (p.Thr1433Pro)
n.4434A>C
c.*2350+244A>C (n.*2350+244A>C)
c.2788A>C (p.Thr930Pro)
c.1972A>C (p.Thr658Pro)
c.1879A>C (p.Thr627Pro)
14g.67782855T=CA2144027654ZFYVE26c.4297A= (p.Thr1433=)
n.4434A=
c.*2350+244A= (n.*2350+244A=)
c.2788A= (p.Thr930=)
c.1972A= (p.Thr658=)
c.1879A= (p.Thr627=)
14g.67782856G>ACA486970563ZFYVE26c.4296C>T (p.Leu1432=)
n.4433C>T
c.*2350+243C>T (n.*2350+243C>T)
c.2787C>T (p.Leu929=)
c.1971C>T (p.Leu657=)
c.1878C>T (p.Leu626=)
 gnomAD v4
14g.67782856G>CCA486970564ZFYVE26c.4296C>G (p.Leu1432=)
n.4433C>G
c.*2350+243C>G (n.*2350+243C>G)
c.2787C>G (p.Leu929=)
c.1971C>G (p.Leu657=)
c.1878C>G (p.Leu626=)
14g.67782856G>TCA486970565ZFYVE26c.4296C>A (p.Leu1432=)
n.4433C>A
c.*2350+243C>A (n.*2350+243C>A)
c.2787C>A (p.Leu929=)
c.1971C>A (p.Leu657=)
c.1878C>A (p.Leu626=)
14g.67782857A>CCA390170226ZFYVE26c.4295T>G (p.Leu1432Arg)
n.4432T>G
c.*2350+242T>G (n.*2350+242T>G)
c.2786T>G (p.Leu929Arg)
c.1970T>G (p.Leu657Arg)
c.1877T>G (p.Leu626Arg)
14g.67782857A>GCA390170228ZFYVE26c.4295T>C (p.Leu1432Pro)
n.4432T>C
c.*2350+242T>C (n.*2350+242T>C)
c.2786T>C (p.Leu929Pro)
c.1970T>C (p.Leu657Pro)
c.1877T>C (p.Leu626Pro)
14g.67782857A>TCA390170229ZFYVE26c.4295T>A (p.Leu1432His)
n.4432T>A
c.*2350+242T>A (n.*2350+242T>A)
c.2786T>A (p.Leu929His)
c.1970T>A (p.Leu657His)
c.1877T>A (p.Leu626His)
14g.67782858G>ACA390170231ZFYVE26c.4294C>T (p.Leu1432Phe)
n.4431C>T
c.*2350+241C>T (n.*2350+241C>T)
c.2785C>T (p.Leu929Phe)
c.1969C>T (p.Leu657Phe)
c.1876C>T (p.Leu626Phe)
 dbSNP gnomAD v4
14g.67782858G>CCA390170233ZFYVE26c.4294C>G (p.Leu1432Val)
n.4431C>G
c.*2350+241C>G (n.*2350+241C>G)
c.2785C>G (p.Leu929Val)
c.1969C>G (p.Leu657Val)
c.1876C>G (p.Leu626Val)
14g.67782858G=CA2144027655ZFYVE26c.4294C= (p.Leu1432=)
n.4431C=
c.*2350+241C= (n.*2350+241C=)
c.2785C= (p.Leu929=)
c.1969C= (p.Leu657=)
c.1876C= (p.Leu626=)
14g.67782858G>TCA390170235ZFYVE26c.4294C>A (p.Leu1432Ile)
n.4431C>A
c.*2350+241C>A (n.*2350+241C>A)
c.2785C>A (p.Leu929Ile)
c.1969C>A (p.Leu657Ile)
c.1876C>A (p.Leu626Ile)
14g.67782859C>ACA390170237ZFYVE26c.4293G>T (p.Gln1431His)
n.4430G>T
c.*2350+240G>T (n.*2350+240G>T)
c.2784G>T (p.Gln928His)
c.1968G>T (p.Gln656His)
c.1875G>T (p.Gln625His)
 gnomAD v4
14g.67782859C=CA2144027656ZFYVE26c.4293G= (p.Gln1431=)
n.4430G=
c.*2350+240G= (n.*2350+240G=)
c.2784G= (p.Gln928=)
c.1968G= (p.Gln656=)
c.1875G= (p.Gln625=)
14g.67782859C>GCA7239804ZFYVE26c.4293G>C (p.Gln1431His)
n.4430G>C
c.*2350+240G>C (n.*2350+240G>C)
c.2784G>C (p.Gln928His)
c.1968G>C (p.Gln656His)
c.1875G>C (p.Gln625His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782859C>TCA486970570ZFYVE26c.4293G>A (p.Gln1431=)
n.4430G>A
c.*2350+240G>A (n.*2350+240G>A)
c.2784G>A (p.Gln928=)
c.1968G>A (p.Gln656=)
c.1875G>A (p.Gln625=)
 COSMIC
14g.67782860T>ACA390170240ZFYVE26c.4292A>T (p.Gln1431Leu)
n.4429A>T
c.*2350+239A>T (n.*2350+239A>T)
c.2783A>T (p.Gln928Leu)
c.1967A>T (p.Gln656Leu)
c.1874A>T (p.Gln625Leu)
14g.67782860T>CCA390170241ZFYVE26c.4292A>G (p.Gln1431Arg)
n.4429A>G
c.*2350+239A>G (n.*2350+239A>G)
c.2783A>G (p.Gln928Arg)
c.1967A>G (p.Gln656Arg)
c.1874A>G (p.Gln625Arg)
14g.67782860T>GCA390170243ZFYVE26c.4292A>C (p.Gln1431Pro)
n.4429A>C
c.*2350+239A>C (n.*2350+239A>C)
c.2783A>C (p.Gln928Pro)
c.1967A>C (p.Gln656Pro)
c.1874A>C (p.Gln625Pro)
14g.67782861G>ACA390170249ZFYVE26c.4291C>T (p.Gln1431Ter)
n.4428C>T
c.*2350+238C>T (n.*2350+238C>T)
c.2782C>T (p.Gln928Ter)
c.1966C>T (p.Gln656Ter)
c.1873C>T (p.Gln625Ter)
 ClinVar dbSNP
14g.67782861G>CCA390170247ZFYVE26c.4291C>G (p.Gln1431Glu)
n.4428C>G
c.*2350+238C>G (n.*2350+238C>G)
c.2782C>G (p.Gln928Glu)
c.1966C>G (p.Gln656Glu)
c.1873C>G (p.Gln625Glu)
14g.67782861G>TCA390170245ZFYVE26c.4291C>A (p.Gln1431Lys)
n.4428C>A
c.*2350+238C>A (n.*2350+238C>A)
c.2782C>A (p.Gln928Lys)
c.1966C>A (p.Gln656Lys)
c.1873C>A (p.Gln625Lys)
14g.67782862A>CCA486970576ZFYVE26c.4290T>G (p.Leu1430=)
n.4427T>G
c.*2350+237T>G (n.*2350+237T>G)
c.2781T>G (p.Leu927=)
c.1965T>G (p.Leu655=)
c.1872T>G (p.Leu624=)
14g.67782862A>GCA486970577ZFYVE26c.4290T>C (p.Leu1430=)
n.4427T>C
c.*2350+237T>C (n.*2350+237T>C)
c.2781T>C (p.Leu927=)
c.1965T>C (p.Leu655=)
c.1872T>C (p.Leu624=)
14g.67782862A>TCA486970575ZFYVE26c.4290T>A (p.Leu1430=)
n.4427T>A
c.*2350+237T>A (n.*2350+237T>A)
c.2781T>A (p.Leu927=)
c.1965T>A (p.Leu655=)
c.1872T>A (p.Leu624=)
14g.67782863A>CCA390170251ZFYVE26c.4289T>G (p.Leu1430Arg)
n.4426T>G
c.*2350+236T>G (n.*2350+236T>G)
c.2780T>G (p.Leu927Arg)
c.1964T>G (p.Leu655Arg)
c.1871T>G (p.Leu624Arg)
14g.67782863A>GCA390170252ZFYVE26c.4289T>C (p.Leu1430Pro)
n.4426T>C
c.*2350+236T>C (n.*2350+236T>C)
c.2780T>C (p.Leu927Pro)
c.1964T>C (p.Leu655Pro)
c.1871T>C (p.Leu624Pro)
14g.67782863A>TCA390170254ZFYVE26c.4289T>A (p.Leu1430His)
n.4426T>A
c.*2350+236T>A (n.*2350+236T>A)
c.2780T>A (p.Leu927His)
c.1964T>A (p.Leu655His)
c.1871T>A (p.Leu624His)
14g.67782864G>ACA390170256ZFYVE26c.4288C>T (p.Leu1430Phe)
n.4425C>T
c.*2350+235C>T (n.*2350+235C>T)
c.2779C>T (p.Leu927Phe)
c.1963C>T (p.Leu655Phe)
c.1870C>T (p.Leu624Phe)
 ClinVar
14g.67782864G>CCA390170257ZFYVE26c.4288C>G (p.Leu1430Val)
n.4425C>G
c.*2350+235C>G (n.*2350+235C>G)
c.2779C>G (p.Leu927Val)
c.1963C>G (p.Leu655Val)
c.1870C>G (p.Leu624Val)
 dbSNP gnomAD v2
14g.67782864G=CA2144027657ZFYVE26c.4288C= (p.Leu1430=)
n.4425C=
c.*2350+235C= (n.*2350+235C=)
c.2779C= (p.Leu927=)
c.1963C= (p.Leu655=)
c.1870C= (p.Leu624=)
14g.67782864G>TCA390170259ZFYVE26c.4288C>A (p.Leu1430Ile)
n.4425C>A
c.*2350+235C>A (n.*2350+235C>A)
c.2779C>A (p.Leu927Ile)
c.1963C>A (p.Leu655Ile)
c.1870C>A (p.Leu624Ile)
14g.67782865G>ACA486970581ZFYVE26c.4287C>T (p.Ala1429=)
n.4424C>T
c.*2350+234C>T (n.*2350+234C>T)
c.2778C>T (p.Ala926=)
c.1962C>T (p.Ala654=)
c.1869C>T (p.Ala623=)
 ClinVar dbSNP gnomAD v4
14g.67782865G>CCA486970582ZFYVE26c.4287C>G (p.Ala1429=)
n.4424C>G
c.*2350+234C>G (n.*2350+234C>G)
c.2778C>G (p.Ala926=)
c.1962C>G (p.Ala654=)
c.1869C>G (p.Ala623=)
14g.67782865G>TCA486970584ZFYVE26c.4287C>A (p.Ala1429=)
n.4424C>A
c.*2350+234C>A (n.*2350+234C>A)
c.2778C>A (p.Ala926=)
c.1962C>A (p.Ala654=)
c.1869C>A (p.Ala623=)
14g.67782866G>ACA390170262ZFYVE26c.4286C>T (p.Ala1429Val)
n.4423C>T
c.*2350+233C>T (n.*2350+233C>T)
c.2777C>T (p.Ala926Val)
c.1961C>T (p.Ala654Val)
c.1868C>T (p.Ala623Val)
14g.67782866G>CCA390170263ZFYVE26c.4286C>G (p.Ala1429Gly)
n.4423C>G
c.*2350+233C>G (n.*2350+233C>G)
c.2777C>G (p.Ala926Gly)
c.1961C>G (p.Ala654Gly)
c.1868C>G (p.Ala623Gly)
14g.67782866G>TCA390170265ZFYVE26c.4286C>A (p.Ala1429Asp)
n.4423C>A
c.*2350+233C>A (n.*2350+233C>A)
c.2777C>A (p.Ala926Asp)
c.1961C>A (p.Ala654Asp)
c.1868C>A (p.Ala623Asp)
14g.67782867C>ACA390170268ZFYVE26c.4285G>T (p.Ala1429Ser)
n.4422G>T
c.*2350+232G>T (n.*2350+232G>T)
c.2776G>T (p.Ala926Ser)
c.1960G>T (p.Ala654Ser)
c.1867G>T (p.Ala623Ser)
14g.67782867C=CA2144027658ZFYVE26c.4285G= (p.Ala1429=)
n.4422G=
c.*2350+232G= (n.*2350+232G=)
c.2776G= (p.Ala926=)
c.1960G= (p.Ala654=)
c.1867G= (p.Ala623=)
14g.67782867C>GCA390170269ZFYVE26c.4285G>C (p.Ala1429Pro)
n.4422G>C
c.*2350+232G>C (n.*2350+232G>C)
c.2776G>C (p.Ala926Pro)
c.1960G>C (p.Ala654Pro)
c.1867G>C (p.Ala623Pro)
14g.67782867C>TCA7239805ZFYVE26c.4285G>A (p.Ala1429Thr)
n.4422G>A
c.*2350+232G>A (n.*2350+232G>A)
c.2776G>A (p.Ala926Thr)
c.1960G>A (p.Ala654Thr)
c.1867G>A (p.Ala623Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782868C>ACA7239806ZFYVE26c.4284G>T (p.Arg1428=)
n.4421G>T
c.*2350+231G>T (n.*2350+231G>T)
c.2775G>T (p.Arg925=)
c.1959G>T (p.Arg653=)
c.1866G>T (p.Arg622=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782868C=CA2144027659ZFYVE26c.4284G= (p.Arg1428=)
n.4421G=
c.*2350+231G= (n.*2350+231G=)
c.2775G= (p.Arg925=)
c.1959G= (p.Arg653=)
c.1866G= (p.Arg622=)
14g.67782868C>GCA486970586ZFYVE26c.4284G>C (p.Arg1428=)
n.4421G>C
c.*2350+231G>C (n.*2350+231G>C)
c.2775G>C (p.Arg925=)
c.1959G>C (p.Arg653=)
c.1866G>C (p.Arg622=)
14g.67782868C>TCA486970587ZFYVE26c.4284G>A (p.Arg1428=)
n.4421G>A
c.*2350+231G>A (n.*2350+231G>A)
c.2775G>A (p.Arg925=)
c.1959G>A (p.Arg653=)
c.1866G>A (p.Arg622=)
14g.67782869C>ACA390170275ZFYVE26c.4283G>T (p.Arg1428Leu)
n.4420G>T
c.*2350+230G>T (n.*2350+230G>T)
c.2774G>T (p.Arg925Leu)
c.1958G>T (p.Arg653Leu)
c.1865G>T (p.Arg622Leu)
 ClinVar dbSNP gnomAD v4
14g.67782869C=CA2144027660ZFYVE26c.4283G= (p.Arg1428=)
n.4420G=
c.*2350+230G= (n.*2350+230G=)
c.2774G= (p.Arg925=)
c.1958G= (p.Arg653=)
c.1865G= (p.Arg622=)
14g.67782869C>GCA390170277ZFYVE26c.4283G>C (p.Arg1428Pro)
n.4420G>C
c.*2350+230G>C (n.*2350+230G>C)
c.2774G>C (p.Arg925Pro)
c.1958G>C (p.Arg653Pro)
c.1865G>C (p.Arg622Pro)
14g.67782869C>TCA7239807ZFYVE26c.4283G>A (p.Arg1428Gln)
n.4420G>A
c.*2350+230G>A (n.*2350+230G>A)
c.2774G>A (p.Arg925Gln)
c.1958G>A (p.Arg653Gln)
c.1865G>A (p.Arg622Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782869_67782870delinsACA2580088643ZFYVE26c.4282_4283delinsT (p.Arg1428TrpfsTer16)
n.4419_4420delinsT
c.*2350+229_*2350+230delinsT (n.*2350+229_*2350+230delinsT)
c.2773_2774delinsT (p.Arg925TrpfsTer16)
c.1957_1958delinsT (p.Arg653TrpfsTer16)
c.1864_1865delinsT (p.Arg622TrpfsTer16)
 ClinVar
14g.67782870G>ACA7239808ZFYVE26c.4282C>T (p.Arg1428Trp)
n.4419C>T
c.*2350+229C>T (n.*2350+229C>T)
c.2773C>T (p.Arg925Trp)
c.1957C>T (p.Arg653Trp)
c.1864C>T (p.Arg622Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.67782870G>CCA390170279ZFYVE26c.4282C>G (p.Arg1428Gly)
n.4419C>G
c.*2350+229C>G (n.*2350+229C>G)
c.2773C>G (p.Arg925Gly)
c.1957C>G (p.Arg653Gly)
c.1864C>G (p.Arg622Gly)
14g.67782870G=CA2144027661ZFYVE26c.4282C= (p.Arg1428=)
n.4419C=
c.*2350+229C= (n.*2350+229C=)
c.2773C= (p.Arg925=)
c.1957C= (p.Arg653=)
c.1864C= (p.Arg622=)
14g.67782870G>TCA486970588ZFYVE26c.4282C>A (p.Arg1428=)
n.4419C>A
c.*2350+229C>A (n.*2350+229C>A)
c.2773C>A (p.Arg925=)
c.1957C>A (p.Arg653=)
c.1864C>A (p.Arg622=)
 COSMIC
14g.67782871G>ACA486970589ZFYVE26c.4281C>T (p.Ser1427=)
n.4418C>T
c.*2350+228C>T (n.*2350+228C>T)
c.2772C>T (p.Ser924=)
c.1956C>T (p.Ser652=)
c.1863C>T (p.Ser621=)
14g.67782871G>CCA486970590ZFYVE26c.4281C>G (p.Ser1427=)
n.4418C>G
c.*2350+228C>G (n.*2350+228C>G)
c.2772C>G (p.Ser924=)
c.1956C>G (p.Ser652=)
c.1863C>G (p.Ser621=)
14g.67782871G=CA2144027662ZFYVE26c.4281C= (p.Ser1427=)
n.4418C=
c.*2350+228C= (n.*2350+228C=)
c.2772C= (p.Ser924=)
c.1956C= (p.Ser652=)
c.1863C= (p.Ser621=)
14g.67782871G>TCA486970591ZFYVE26c.4281C>A (p.Ser1427=)
n.4418C>A
c.*2350+228C>A (n.*2350+228C>A)
c.2772C>A (p.Ser924=)
c.1956C>A (p.Ser652=)
c.1863C>A (p.Ser621=)
 dbSNP gnomAD v2 gnomAD v4
14g.67782872G>ACA7239809ZFYVE26c.4280C>T (p.Ser1427Phe)
n.4417C>T
c.*2350+227C>T (n.*2350+227C>T)
c.2771C>T (p.Ser924Phe)
c.1955C>T (p.Ser652Phe)
c.1862C>T (p.Ser621Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782872G>CCA390170283ZFYVE26c.4280C>G (p.Ser1427Cys)
n.4417C>G
c.*2350+227C>G (n.*2350+227C>G)
c.2771C>G (p.Ser924Cys)
c.1955C>G (p.Ser652Cys)
c.1862C>G (p.Ser621Cys)
14g.67782872G=CA2144027663ZFYVE26c.4280C= (p.Ser1427=)
n.4417C=
c.*2350+227C= (n.*2350+227C=)
c.2771C= (p.Ser924=)
c.1955C= (p.Ser652=)
c.1862C= (p.Ser621=)
14g.67782872G>TCA390170285ZFYVE26c.4280C>A (p.Ser1427Tyr)
n.4417C>A
c.*2350+227C>A (n.*2350+227C>A)
c.2771C>A (p.Ser924Tyr)
c.1955C>A (p.Ser652Tyr)
c.1862C>A (p.Ser621Tyr)
14g.67782873A=CA2144027664ZFYVE26c.4279T= (p.Ser1427=)
n.4416T=
c.*2350+226T= (n.*2350+226T=)
c.2770T= (p.Ser924=)
c.1954T= (p.Ser652=)
c.1861T= (p.Ser621=)
14g.67782873A>CCA390170286ZFYVE26c.4279T>G (p.Ser1427Ala)
n.4416T>G
c.*2350+226T>G (n.*2350+226T>G)
c.2770T>G (p.Ser924Ala)
c.1954T>G (p.Ser652Ala)
c.1861T>G (p.Ser621Ala)
 dbSNP
14g.67782873A>GCA390170287ZFYVE26c.4279T>C (p.Ser1427Pro)
n.4416T>C
c.*2350+226T>C (n.*2350+226T>C)
c.2770T>C (p.Ser924Pro)
c.1954T>C (p.Ser652Pro)
c.1861T>C (p.Ser621Pro)
14g.67782873A>TCA390170289ZFYVE26c.4279T>A (p.Ser1427Thr)
n.4416T>A
c.*2350+226T>A (n.*2350+226T>A)
c.2770T>A (p.Ser924Thr)
c.1954T>A (p.Ser652Thr)
c.1861T>A (p.Ser621Thr)
14g.67782874C>ACA390170292ZFYVE26c.4278G>T (p.Trp1426Cys)
n.4415G>T
c.*2350+225G>T (n.*2350+225G>T)
c.2769G>T (p.Trp923Cys)
c.1953G>T (p.Trp651Cys)
c.1860G>T (p.Trp620Cys)
14g.67782874C>GCA390170293ZFYVE26c.4278G>C (p.Trp1426Cys)
n.4415G>C
c.*2350+225G>C (n.*2350+225G>C)
c.2769G>C (p.Trp923Cys)
c.1953G>C (p.Trp651Cys)
c.1860G>C (p.Trp620Cys)
14g.67782874C>TCA390170294ZFYVE26c.4278G>A (p.Trp1426Ter)
n.4415G>A
c.*2350+225G>A (n.*2350+225G>A)
c.2769G>A (p.Trp923Ter)
c.1953G>A (p.Trp651Ter)
c.1860G>A (p.Trp620Ter)
14g.67782875C>ACA7239810ZFYVE26c.4277G>T (p.Trp1426Leu)
n.4414G>T
c.*2350+224G>T (n.*2350+224G>T)
c.2768G>T (p.Trp923Leu)
c.1952G>T (p.Trp651Leu)
c.1859G>T (p.Trp620Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782875C=CA2144027665ZFYVE26c.4277G= (p.Trp1426=)
n.4414G=
c.*2350+224G= (n.*2350+224G=)
c.2768G= (p.Trp923=)
c.1952G= (p.Trp651=)
c.1859G= (p.Trp620=)
14g.67782875C>GCA390170297ZFYVE26c.4277G>C (p.Trp1426Ser)
n.4414G>C
c.*2350+224G>C (n.*2350+224G>C)
c.2768G>C (p.Trp923Ser)
c.1952G>C (p.Trp651Ser)
c.1859G>C (p.Trp620Ser)
14g.67782875C>TCA390170299ZFYVE26c.4277G>A (p.Trp1426Ter)
n.4414G>A
c.*2350+224G>A (n.*2350+224G>A)
c.2768G>A (p.Trp923Ter)
c.1952G>A (p.Trp651Ter)
c.1859G>A (p.Trp620Ter)
 dbSNP
14g.67782876A>CCA390170302ZFYVE26c.4276T>G (p.Trp1426Gly)
n.4413T>G
c.*2350+223T>G (n.*2350+223T>G)
c.2767T>G (p.Trp923Gly)
c.1951T>G (p.Trp651Gly)
c.1858T>G (p.Trp620Gly)
14g.67782876A>GCA390170305ZFYVE26c.4276T>C (p.Trp1426Arg)
n.4413T>C
c.*2350+223T>C (n.*2350+223T>C)
c.2767T>C (p.Trp923Arg)
c.1951T>C (p.Trp651Arg)
c.1858T>C (p.Trp620Arg)
14g.67782876A>TCA390170303ZFYVE26c.4276T>A (p.Trp1426Arg)
n.4413T>A
c.*2350+223T>A (n.*2350+223T>A)
c.2767T>A (p.Trp923Arg)
c.1951T>A (p.Trp651Arg)
c.1858T>A (p.Trp620Arg)
 COSMIC
14g.67782877A>CCA390170307ZFYVE26c.4275T>G (p.Asp1425Glu)
n.4412T>G
c.*2350+222T>G (n.*2350+222T>G)
c.2766T>G (p.Asp922Glu)
c.1950T>G (p.Asp650Glu)
c.1857T>G (p.Asp619Glu)
14g.67782877A>GCA486970595ZFYVE26c.4275T>C (p.Asp1425=)
n.4412T>C
c.*2350+222T>C (n.*2350+222T>C)
c.2766T>C (p.Asp922=)
c.1950T>C (p.Asp650=)
c.1857T>C (p.Asp619=)
 gnomAD v4
14g.67782877A>TCA390170309ZFYVE26c.4275T>A (p.Asp1425Glu)
n.4412T>A
c.*2350+222T>A (n.*2350+222T>A)
c.2766T>A (p.Asp922Glu)
c.1950T>A (p.Asp650Glu)
c.1857T>A (p.Asp619Glu)
 COSMIC
14g.67782878T>ACA390170311ZFYVE26c.4274A>T (p.Asp1425Val)
n.4411A>T
c.*2350+221A>T (n.*2350+221A>T)
c.2765A>T (p.Asp922Val)
c.1949A>T (p.Asp650Val)
c.1856A>T (p.Asp619Val)
14g.67782878T>CCA390170313ZFYVE26c.4274A>G (p.Asp1425Gly)
n.4411A>G
c.*2350+221A>G (n.*2350+221A>G)
c.2765A>G (p.Asp922Gly)
c.1949A>G (p.Asp650Gly)
c.1856A>G (p.Asp619Gly)
 gnomAD v4
14g.67782878T>GCA390170314ZFYVE26c.4274A>C (p.Asp1425Ala)
n.4411A>C
c.*2350+221A>C (n.*2350+221A>C)
c.2765A>C (p.Asp922Ala)
c.1949A>C (p.Asp650Ala)
c.1856A>C (p.Asp619Ala)
14g.67782879C>ACA390170317ZFYVE26c.4273G>T (p.Asp1425Tyr)
n.4410G>T
c.*2350+220G>T (n.*2350+220G>T)
c.2764G>T (p.Asp922Tyr)
c.1948G>T (p.Asp650Tyr)
c.1855G>T (p.Asp619Tyr)
14g.67782879C>GCA390170318ZFYVE26c.4273G>C (p.Asp1425His)
n.4410G>C
c.*2350+220G>C (n.*2350+220G>C)
c.2764G>C (p.Asp922His)
c.1948G>C (p.Asp650His)
c.1855G>C (p.Asp619His)
14g.67782879C>TCA390170320ZFYVE26c.4273G>A (p.Asp1425Asn)
n.4410G>A
c.*2350+220G>A (n.*2350+220G>A)
c.2764G>A (p.Asp922Asn)
c.1948G>A (p.Asp650Asn)
c.1855G>A (p.Asp619Asn)
 gnomAD v4
14g.67782880T>ACA390170322ZFYVE26c.4272A>T (p.Arg1424Ser)
n.4409A>T
c.*2350+219A>T (n.*2350+219A>T)
c.2763A>T (p.Arg921Ser)
c.1947A>T (p.Arg649Ser)
c.1854A>T (p.Arg618Ser)
14g.67782880T>CCA486970598ZFYVE26c.4272A>G (p.Arg1424=)
n.4409A>G
c.*2350+219A>G (n.*2350+219A>G)
c.2763A>G (p.Arg921=)
c.1947A>G (p.Arg649=)
c.1854A>G (p.Arg618=)
14g.67782880T>GCA390170325ZFYVE26c.4272A>C (p.Arg1424Ser)
n.4409A>C
c.*2350+219A>C (n.*2350+219A>C)
c.2763A>C (p.Arg921Ser)
c.1947A>C (p.Arg649Ser)
c.1854A>C (p.Arg618Ser)
14g.67782881C>ACA390170328ZFYVE26c.4271G>T (p.Arg1424Ile)
n.4408G>T
c.*2350+218G>T (n.*2350+218G>T)
c.2762G>T (p.Arg921Ile)
c.1946G>T (p.Arg649Ile)
c.1853G>T (p.Arg618Ile)
14g.67782881C>GCA390170330ZFYVE26c.4271G>C (p.Arg1424Thr)
n.4408G>C
c.*2350+218G>C (n.*2350+218G>C)
c.2762G>C (p.Arg921Thr)
c.1946G>C (p.Arg649Thr)
c.1853G>C (p.Arg618Thr)
14g.67782881C>TCA390170326ZFYVE26c.4271G>A (p.Arg1424Lys)
n.4408G>A
c.*2350+218G>A (n.*2350+218G>A)
c.2762G>A (p.Arg921Lys)
c.1946G>A (p.Arg649Lys)
c.1853G>A (p.Arg618Lys)
14g.67782882T>ACA390170333ZFYVE26c.4270A>T (p.Arg1424Ter)
n.4407A>T
c.*2350+217A>T (n.*2350+217A>T)
c.2761A>T (p.Arg921Ter)
c.1945A>T (p.Arg649Ter)
c.1852A>T (p.Arg618Ter)
14g.67782882T>CCA390170334ZFYVE26c.4270A>G (p.Arg1424Gly)
n.4407A>G
c.*2350+217A>G (n.*2350+217A>G)
c.2761A>G (p.Arg921Gly)
c.1945A>G (p.Arg649Gly)
c.1852A>G (p.Arg618Gly)
14g.67782882T>GCA486970601ZFYVE26c.4270A>C (p.Arg1424=)
n.4407A>C
c.*2350+217A>C (n.*2350+217A>C)
c.2761A>C (p.Arg921=)
c.1945A>C (p.Arg649=)
c.1852A>C (p.Arg618=)
14g.67782883G>ACA486970602ZFYVE26c.4269C>T (p.Ala1423=)
n.4406C>T
c.*2350+216C>T (n.*2350+216C>T)
c.2760C>T (p.Ala920=)
c.1944C>T (p.Ala648=)
c.1851C>T (p.Ala617=)
 dbSNP
14g.67782883G>CCA486970604ZFYVE26c.4269C>G (p.Ala1423=)
n.4406C>G
c.*2350+216C>G (n.*2350+216C>G)
c.2760C>G (p.Ala920=)
c.1944C>G (p.Ala648=)
c.1851C>G (p.Ala617=)
14g.67782883G=CA2144027666ZFYVE26c.4269C= (p.Ala1423=)
n.4406C=
c.*2350+216C= (n.*2350+216C=)
c.2760C= (p.Ala920=)
c.1944C= (p.Ala648=)
c.1851C= (p.Ala617=)
14g.67782883G>TCA486970605ZFYVE26c.4269C>A (p.Ala1423=)
n.4406C>A
c.*2350+216C>A (n.*2350+216C>A)
c.2760C>A (p.Ala920=)
c.1944C>A (p.Ala648=)
c.1851C>A (p.Ala617=)
14g.67782884delCA2625374427ZFYVE26c.4269del (p.Arg1424GlufsTer20)
n.4406del
c.*2350+216del (n.*2350+216del)
c.2760del (p.Arg921GlufsTer20)
c.1944del (p.Arg649GlufsTer20)
c.1851del (p.Arg618GlufsTer20)
 gnomAD v4
14g.67782884G>ACA390170336ZFYVE26c.4268C>T (p.Ala1423Val)
n.4405C>T
c.*2350+215C>T (n.*2350+215C>T)
c.2759C>T (p.Ala920Val)
c.1943C>T (p.Ala648Val)
c.1850C>T (p.Ala617Val)
14g.67782884G>CCA390170338ZFYVE26c.4268C>G (p.Ala1423Gly)
n.4405C>G
c.*2350+215C>G (n.*2350+215C>G)
c.2759C>G (p.Ala920Gly)
c.1943C>G (p.Ala648Gly)
c.1850C>G (p.Ala617Gly)
14g.67782884G>TCA390170340ZFYVE26c.4268C>A (p.Ala1423Asp)
n.4405C>A
c.*2350+215C>A (n.*2350+215C>A)
c.2759C>A (p.Ala920Asp)
c.1943C>A (p.Ala648Asp)
c.1850C>A (p.Ala617Asp)
14g.67782885C>ACA390170342ZFYVE26c.4267G>T (p.Ala1423Ser)
n.4404G>T
c.*2350+214G>T (n.*2350+214G>T)
c.2758G>T (p.Ala920Ser)
c.1942G>T (p.Ala648Ser)
c.1849G>T (p.Ala617Ser)
 gnomAD v4
14g.67782885C>GCA390170344ZFYVE26c.4267G>C (p.Ala1423Pro)
n.4404G>C
c.*2350+214G>C (n.*2350+214G>C)
c.2758G>C (p.Ala920Pro)
c.1942G>C (p.Ala648Pro)
c.1849G>C (p.Ala617Pro)
14g.67782885C>TCA390170346ZFYVE26c.4267G>A (p.Ala1423Thr)
n.4404G>A
c.*2350+214G>A (n.*2350+214G>A)
c.2758G>A (p.Ala920Thr)
c.1942G>A (p.Ala648Thr)
c.1849G>A (p.Ala617Thr)
14g.67782886C>ACA486970609ZFYVE26c.4266G>T (p.Val1422=)
n.4403G>T
c.*2350+213G>T (n.*2350+213G>T)
c.2757G>T (p.Val919=)
c.1941G>T (p.Val647=)
c.1848G>T (p.Val616=)
14g.67782886C>GCA486970610ZFYVE26c.4266G>C (p.Val1422=)
n.4403G>C
c.*2350+213G>C (n.*2350+213G>C)
c.2757G>C (p.Val919=)
c.1941G>C (p.Val647=)
c.1848G>C (p.Val616=)
14g.67782886C>TCA486970611ZFYVE26c.4266G>A (p.Val1422=)
n.4403G>A
c.*2350+213G>A (n.*2350+213G>A)
c.2757G>A (p.Val919=)
c.1941G>A (p.Val647=)
c.1848G>A (p.Val616=)
14g.67782887A=CA2144027667ZFYVE26c.4265T= (p.Val1422=)
n.4402T=
c.*2350+212T= (n.*2350+212T=)
c.2756T= (p.Val919=)
c.1940T= (p.Val647=)
c.1847T= (p.Val616=)
14g.67782887A>CCA390170348ZFYVE26c.4265T>G (p.Val1422Gly)
n.4402T>G
c.*2350+212T>G (n.*2350+212T>G)
c.2756T>G (p.Val919Gly)
c.1940T>G (p.Val647Gly)
c.1847T>G (p.Val616Gly)
14g.67782887A>GCA7239811ZFYVE26c.4265T>C (p.Val1422Ala)
n.4402T>C
c.*2350+212T>C (n.*2350+212T>C)
c.2756T>C (p.Val919Ala)
c.1940T>C (p.Val647Ala)
c.1847T>C (p.Val616Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.67782887A>TCA390170351ZFYVE26c.4265T>A (p.Val1422Glu)
n.4402T>A
c.*2350+212T>A (n.*2350+212T>A)
c.2756T>A (p.Val919Glu)
c.1940T>A (p.Val647Glu)
c.1847T>A (p.Val616Glu)
14g.67782888C>ACA390170353ZFYVE26c.4264G>T (p.Val1422Leu)
n.4401G>T
c.*2350+211G>T (n.*2350+211G>T)
c.2755G>T (p.Val919Leu)
c.1939G>T (p.Val647Leu)
c.1846G>T (p.Val616Leu)
14g.67782888C=CA2144027668ZFYVE26c.4264G= (p.Val1422=)
n.4401G=
c.*2350+211G= (n.*2350+211G=)
c.2755G= (p.Val919=)
c.1939G= (p.Val647=)
c.1846G= (p.Val616=)
14g.67782888C>GCA390170355ZFYVE26c.4264G>C (p.Val1422Leu)
n.4401G>C
c.*2350+211G>C (n.*2350+211G>C)
c.2755G>C (p.Val919Leu)
c.1939G>C (p.Val647Leu)
c.1846G>C (p.Val616Leu)
14g.67782888C>TCA7239812ZFYVE26c.4264G>A (p.Val1422Met)
n.4401G>A
c.*2350+211G>A (n.*2350+211G>A)
c.2755G>A (p.Val919Met)
c.1939G>A (p.Val647Met)
c.1846G>A (p.Val616Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.67782889C>ACA390170357ZFYVE26c.4263G>T (p.Leu1421Phe)
n.4400G>T
c.*2350+210G>T (n.*2350+210G>T)
c.2754G>T (p.Leu918Phe)
c.1938G>T (p.Leu646Phe)
c.1845G>T (p.Leu615Phe)
14g.67782889C>GCA390170359ZFYVE26c.4263G>C (p.Leu1421Phe)
n.4400G>C
c.*2350+210G>C (n.*2350+210G>C)
c.2754G>C (p.Leu918Phe)
c.1938G>C (p.Leu646Phe)
c.1845G>C (p.Leu615Phe)
14g.67782889C>TCA486970614ZFYVE26c.4263G>A (p.Leu1421=)
n.4400G>A
c.*2350+210G>A (n.*2350+210G>A)
c.2754G>A (p.Leu918=)
c.1938G>A (p.Leu646=)
c.1845G>A (p.Leu615=)
 ClinVar gnomAD v4

Number of alleles fetched