Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.94594709T>ACA377667714HELLSc.777T>A (p.Asp259Glu)
c.2038T>A (n.2038T>A)
c.2241T>A (p.Asp747Glu)
c.1809T>A (p.Asp603Glu)
c.2055T>A (p.Asp685Glu)
n.2103T>A
c.2147T>A (n.2147T>A)
c.2007T>A (p.Asp669Glu)
c.1713T>A (p.Asp571Glu)
c.1906T>A (n.1906T>A)
c.2022T>A (n.2022T>A)
c.2103T>A (p.Asp701Glu)
c.1731T>A (p.Asp577Glu)
c.414T>A (p.Asp138Glu)
c.1689T>A (p.Asp563Glu)
c.1020T>A (p.Asp340Glu)
c.885T>A (p.Asp295Glu)
c.1437T>A (p.Asp479Glu)
10g.94594709T>CCA470822448HELLSc.777T>C (p.Asp259=)
c.2038T>C (n.2038T>C)
c.2241T>C (p.Asp747=)
c.1809T>C (p.Asp603=)
c.2055T>C (p.Asp685=)
n.2103T>C
c.2147T>C (n.2147T>C)
c.2007T>C (p.Asp669=)
c.1713T>C (p.Asp571=)
c.1906T>C (n.1906T>C)
c.2022T>C (n.2022T>C)
c.2103T>C (p.Asp701=)
c.1731T>C (p.Asp577=)
c.414T>C (p.Asp138=)
c.1689T>C (p.Asp563=)
c.1020T>C (p.Asp340=)
c.885T>C (p.Asp295=)
c.1437T>C (p.Asp479=)
10g.94594709T>GCA377667715HELLSc.777T>G (p.Asp259Glu)
c.2038T>G (n.2038T>G)
c.2241T>G (p.Asp747Glu)
c.1809T>G (p.Asp603Glu)
c.2055T>G (p.Asp685Glu)
n.2103T>G
c.2147T>G (n.2147T>G)
c.2007T>G (p.Asp669Glu)
c.1713T>G (p.Asp571Glu)
c.1906T>G (n.1906T>G)
c.2022T>G (n.2022T>G)
c.2103T>G (p.Asp701Glu)
c.1731T>G (p.Asp577Glu)
c.414T>G (p.Asp138Glu)
c.1689T>G (p.Asp563Glu)
c.1020T>G (p.Asp340Glu)
c.885T>G (p.Asp295Glu)
c.1437T>G (p.Asp479Glu)
10g.94594710C>ACA377667716HELLSc.778C>A (p.Leu260Ile)
c.2039C>A (n.2039C>A)
c.2242C>A (p.Leu748Ile)
c.1810C>A (p.Leu604Ile)
c.2056C>A (p.Leu686Ile)
n.2104C>A
c.2148C>A (n.2148C>A)
c.2008C>A (p.Leu670Ile)
c.1714C>A (p.Leu572Ile)
c.1907C>A (n.1907C>A)
c.2023C>A (n.2023C>A)
c.2104C>A (p.Leu702Ile)
c.1732C>A (p.Leu578Ile)
c.415C>A (p.Leu139Ile)
c.1690C>A (p.Leu564Ile)
c.1021C>A (p.Leu341Ile)
c.886C>A (p.Leu296Ile)
c.1438C>A (p.Leu480Ile)
 gnomAD v4
10g.94594710C>GCA377667717HELLSc.778C>G (p.Leu260Val)
c.2039C>G (n.2039C>G)
c.2242C>G (p.Leu748Val)
c.1810C>G (p.Leu604Val)
c.2056C>G (p.Leu686Val)
n.2104C>G
c.2148C>G (n.2148C>G)
c.2008C>G (p.Leu670Val)
c.1714C>G (p.Leu572Val)
c.1907C>G (n.1907C>G)
c.2023C>G (n.2023C>G)
c.2104C>G (p.Leu702Val)
c.1732C>G (p.Leu578Val)
c.415C>G (p.Leu139Val)
c.1690C>G (p.Leu564Val)
c.1021C>G (p.Leu341Val)
c.886C>G (p.Leu296Val)
c.1438C>G (p.Leu480Val)
10g.94594710C>TCA377667718HELLSc.778C>T (p.Leu260Phe)
c.2039C>T (n.2039C>T)
c.2242C>T (p.Leu748Phe)
c.1810C>T (p.Leu604Phe)
c.2056C>T (p.Leu686Phe)
n.2104C>T
c.2148C>T (n.2148C>T)
c.2008C>T (p.Leu670Phe)
c.1714C>T (p.Leu572Phe)
c.1907C>T (n.1907C>T)
c.2023C>T (n.2023C>T)
c.2104C>T (p.Leu702Phe)
c.1732C>T (p.Leu578Phe)
c.415C>T (p.Leu139Phe)
c.1690C>T (p.Leu564Phe)
c.1021C>T (p.Leu341Phe)
c.886C>T (p.Leu296Phe)
c.1438C>T (p.Leu480Phe)
10g.94594711T>ACA377667720HELLSc.779T>A (p.Leu260His)
c.2040T>A (n.2040T>A)
c.2243T>A (p.Leu748His)
c.1811T>A (p.Leu604His)
c.2057T>A (p.Leu686His)
n.2105T>A
c.2149T>A (n.2149T>A)
c.2009T>A (p.Leu670His)
c.1715T>A (p.Leu572His)
c.1908T>A (n.1908T>A)
c.2024T>A (n.2024T>A)
c.2105T>A (p.Leu702His)
c.1733T>A (p.Leu578His)
c.416T>A (p.Leu139His)
c.1691T>A (p.Leu564His)
c.1022T>A (p.Leu341His)
c.887T>A (p.Leu296His)
c.1439T>A (p.Leu480His)
10g.94594711T>CCA211678005HELLSc.779T>C (p.Leu260Pro)
c.2040T>C (n.2040T>C)
c.2243T>C (p.Leu748Pro)
c.1811T>C (p.Leu604Pro)
c.2057T>C (p.Leu686Pro)
n.2105T>C
c.2149T>C (n.2149T>C)
c.2009T>C (p.Leu670Pro)
c.1715T>C (p.Leu572Pro)
c.1908T>C (n.1908T>C)
c.2024T>C (n.2024T>C)
c.2105T>C (p.Leu702Pro)
c.1733T>C (p.Leu578Pro)
c.416T>C (p.Leu139Pro)
c.1691T>C (p.Leu564Pro)
c.1022T>C (p.Leu341Pro)
c.887T>C (p.Leu296Pro)
c.1439T>C (p.Leu480Pro)
 dbSNP
10g.94594711T>GCA377667719HELLSc.779T>G (p.Leu260Arg)
c.2040T>G (n.2040T>G)
c.2243T>G (p.Leu748Arg)
c.1811T>G (p.Leu604Arg)
c.2057T>G (p.Leu686Arg)
n.2105T>G
c.2149T>G (n.2149T>G)
c.2009T>G (p.Leu670Arg)
c.1715T>G (p.Leu572Arg)
c.1908T>G (n.1908T>G)
c.2024T>G (n.2024T>G)
c.2105T>G (p.Leu702Arg)
c.1733T>G (p.Leu578Arg)
c.416T>G (p.Leu139Arg)
c.1691T>G (p.Leu564Arg)
c.1022T>G (p.Leu341Arg)
c.887T>G (p.Leu296Arg)
c.1439T>G (p.Leu480Arg)
10g.94594711T=CA1929136078HELLSc.779T= (p.Leu260=)
c.2040T= (n.2040T=)
c.2243T= (p.Leu748=)
c.1811T= (p.Leu604=)
c.2057T= (p.Leu686=)
n.2105T=
c.2149T= (n.2149T=)
c.2009T= (p.Leu670=)
c.1715T= (p.Leu572=)
c.1908T= (n.1908T=)
c.2024T= (n.2024T=)
c.2105T= (p.Leu702=)
c.1733T= (p.Leu578=)
c.416T= (p.Leu139=)
c.1691T= (p.Leu564=)
c.1022T= (p.Leu341=)
c.887T= (p.Leu296=)
c.1439T= (p.Leu480=)
10g.94594712T>ACA470822451HELLSc.780T>A (p.Leu260=)
c.2041T>A (n.2041T>A)
c.2244T>A (p.Leu748=)
c.1812T>A (p.Leu604=)
c.2058T>A (p.Leu686=)
n.2106T>A
c.2150T>A (n.2150T>A)
c.2010T>A (p.Leu670=)
c.1716T>A (p.Leu572=)
c.1909T>A (n.1909T>A)
c.2025T>A (n.2025T>A)
c.2106T>A (p.Leu702=)
c.1734T>A (p.Leu578=)
c.417T>A (p.Leu139=)
c.1692T>A (p.Leu564=)
c.1023T>A (p.Leu341=)
c.888T>A (p.Leu296=)
c.1440T>A (p.Leu480=)
10g.94594712T>CCA470822452HELLSc.780T>C (p.Leu260=)
c.2041T>C (n.2041T>C)
c.2244T>C (p.Leu748=)
c.1812T>C (p.Leu604=)
c.2058T>C (p.Leu686=)
n.2106T>C
c.2150T>C (n.2150T>C)
c.2010T>C (p.Leu670=)
c.1716T>C (p.Leu572=)
c.1909T>C (n.1909T>C)
c.2025T>C (n.2025T>C)
c.2106T>C (p.Leu702=)
c.1734T>C (p.Leu578=)
c.417T>C (p.Leu139=)
c.1692T>C (p.Leu564=)
c.1023T>C (p.Leu341=)
c.888T>C (p.Leu296=)
c.1440T>C (p.Leu480=)
10g.94594712T>GCA470822453HELLSc.780T>G (p.Leu260=)
c.2041T>G (n.2041T>G)
c.2244T>G (p.Leu748=)
c.1812T>G (p.Leu604=)
c.2058T>G (p.Leu686=)
n.2106T>G
c.2150T>G (n.2150T>G)
c.2010T>G (p.Leu670=)
c.1716T>G (p.Leu572=)
c.1909T>G (n.1909T>G)
c.2025T>G (n.2025T>G)
c.2106T>G (p.Leu702=)
c.1734T>G (p.Leu578=)
c.417T>G (p.Leu139=)
c.1692T>G (p.Leu564=)
c.1023T>G (p.Leu341=)
c.888T>G (p.Leu296=)
c.1440T>G (p.Leu480=)
 gnomAD v4
10g.94594713C>ACA377667721HELLSc.781C>A (p.Gln261Lys)
c.2042C>A (n.2042C>A)
c.2245C>A (p.Gln749Lys)
c.1813C>A (p.Gln605Lys)
c.2059C>A (p.Gln687Lys)
n.2107C>A
c.2151C>A (n.2151C>A)
c.2011C>A (p.Gln671Lys)
c.1717C>A (p.Gln573Lys)
c.1910C>A (n.1910C>A)
c.2026C>A (n.2026C>A)
c.2107C>A (p.Gln703Lys)
c.1735C>A (p.Gln579Lys)
c.418C>A (p.Gln140Lys)
c.1693C>A (p.Gln565Lys)
c.1024C>A (p.Gln342Lys)
c.889C>A (p.Gln297Lys)
c.1441C>A (p.Gln481Lys)
10g.94594713C>GCA377667722HELLSc.781C>G (p.Gln261Glu)
c.2042C>G (n.2042C>G)
c.2245C>G (p.Gln749Glu)
c.1813C>G (p.Gln605Glu)
c.2059C>G (p.Gln687Glu)
n.2107C>G
c.2151C>G (n.2151C>G)
c.2011C>G (p.Gln671Glu)
c.1717C>G (p.Gln573Glu)
c.1910C>G (n.1910C>G)
c.2026C>G (n.2026C>G)
c.2107C>G (p.Gln703Glu)
c.1735C>G (p.Gln579Glu)
c.418C>G (p.Gln140Glu)
c.1693C>G (p.Gln565Glu)
c.1024C>G (p.Gln342Glu)
c.889C>G (p.Gln297Glu)
c.1441C>G (p.Gln481Glu)
10g.94594713C>TCA377667723HELLSc.781C>T (p.Gln261Ter)
c.2042C>T (n.2042C>T)
c.2245C>T (p.Gln749Ter)
c.1813C>T (p.Gln605Ter)
c.2059C>T (p.Gln687Ter)
n.2107C>T
c.2151C>T (n.2151C>T)
c.2011C>T (p.Gln671Ter)
c.1717C>T (p.Gln573Ter)
c.1910C>T (n.1910C>T)
c.2026C>T (n.2026C>T)
c.2107C>T (p.Gln703Ter)
c.1735C>T (p.Gln579Ter)
c.418C>T (p.Gln140Ter)
c.1693C>T (p.Gln565Ter)
c.1024C>T (p.Gln342Ter)
c.889C>T (p.Gln297Ter)
c.1441C>T (p.Gln481Ter)
10g.94594714A>CCA377667724HELLSc.782A>C (p.Gln261Pro)
c.2043A>C (n.2043A>C)
c.2246A>C (p.Gln749Pro)
c.1814A>C (p.Gln605Pro)
c.2060A>C (p.Gln687Pro)
n.2108A>C
c.2152A>C (n.2152A>C)
c.2012A>C (p.Gln671Pro)
c.1718A>C (p.Gln573Pro)
c.1911A>C (n.1911A>C)
c.2027A>C (n.2027A>C)
c.2108A>C (p.Gln703Pro)
c.1736A>C (p.Gln579Pro)
c.419A>C (p.Gln140Pro)
c.1694A>C (p.Gln565Pro)
c.1025A>C (p.Gln342Pro)
c.890A>C (p.Gln297Pro)
c.1442A>C (p.Gln481Pro)
10g.94594714A>GCA377667725HELLSc.782A>G (p.Gln261Arg)
c.2043A>G (n.2043A>G)
c.2246A>G (p.Gln749Arg)
c.1814A>G (p.Gln605Arg)
c.2060A>G (p.Gln687Arg)
n.2108A>G
c.2152A>G (n.2152A>G)
c.2012A>G (p.Gln671Arg)
c.1718A>G (p.Gln573Arg)
c.1911A>G (n.1911A>G)
c.2027A>G (n.2027A>G)
c.2108A>G (p.Gln703Arg)
c.1736A>G (p.Gln579Arg)
c.419A>G (p.Gln140Arg)
c.1694A>G (p.Gln565Arg)
c.1025A>G (p.Gln342Arg)
c.890A>G (p.Gln297Arg)
c.1442A>G (p.Gln481Arg)
10g.94594714A>TCA377667726HELLSc.782A>T (p.Gln261Leu)
c.2043A>T (n.2043A>T)
c.2246A>T (p.Gln749Leu)
c.1814A>T (p.Gln605Leu)
c.2060A>T (p.Gln687Leu)
n.2108A>T
c.2152A>T (n.2152A>T)
c.2012A>T (p.Gln671Leu)
c.1718A>T (p.Gln573Leu)
c.1911A>T (n.1911A>T)
c.2027A>T (n.2027A>T)
c.2108A>T (p.Gln703Leu)
c.1736A>T (p.Gln579Leu)
c.419A>T (p.Gln140Leu)
c.1694A>T (p.Gln565Leu)
c.1025A>T (p.Gln342Leu)
c.890A>T (p.Gln297Leu)
c.1442A>T (p.Gln481Leu)
10g.94594715G>ACA470822456HELLSc.783G>A (p.Gln261=)
c.2044G>A (n.2044G>A)
c.2247G>A (p.Gln749=)
c.1815G>A (p.Gln605=)
c.2061G>A (p.Gln687=)
n.2109G>A
c.2153G>A (n.2153G>A)
c.2013G>A (p.Gln671=)
c.1719G>A (p.Gln573=)
c.1912G>A (n.1912G>A)
c.2028G>A (n.2028G>A)
c.2109G>A (p.Gln703=)
c.1737G>A (p.Gln579=)
c.420G>A (p.Gln140=)
c.1695G>A (p.Gln565=)
c.1026G>A (p.Gln342=)
c.891G>A (p.Gln297=)
c.1443G>A (p.Gln481=)
10g.94594715G>CCA377667728HELLSc.783G>C (p.Gln261His)
c.2044G>C (n.2044G>C)
c.2247G>C (p.Gln749His)
c.1815G>C (p.Gln605His)
c.2061G>C (p.Gln687His)
n.2109G>C
c.2153G>C (n.2153G>C)
c.2013G>C (p.Gln671His)
c.1719G>C (p.Gln573His)
c.1912G>C (n.1912G>C)
c.2028G>C (n.2028G>C)
c.2109G>C (p.Gln703His)
c.1737G>C (p.Gln579His)
c.420G>C (p.Gln140His)
c.1695G>C (p.Gln565His)
c.1026G>C (p.Gln342His)
c.891G>C (p.Gln297His)
c.1443G>C (p.Gln481His)
10g.94594715G>TCA377667729HELLSc.783G>T (p.Gln261His)
c.2044G>T (n.2044G>T)
c.2247G>T (p.Gln749His)
c.1815G>T (p.Gln605His)
c.2061G>T (p.Gln687His)
n.2109G>T
c.2153G>T (n.2153G>T)
c.2013G>T (p.Gln671His)
c.1719G>T (p.Gln573His)
c.1912G>T (n.1912G>T)
c.2028G>T (n.2028G>T)
c.2109G>T (p.Gln703His)
c.1737G>T (p.Gln579His)
c.420G>T (p.Gln140His)
c.1695G>T (p.Gln565His)
c.1026G>T (p.Gln342His)
c.891G>T (p.Gln297His)
c.1443G>T (p.Gln481His)
10g.94594716G>ACA377667731HELLSc.784G>A (p.Ala262Thr)
c.2045G>A (n.2045G>A)
c.2248G>A (p.Ala750Thr)
c.1816G>A (p.Ala606Thr)
c.2062G>A (p.Ala688Thr)
n.2110G>A
c.2154G>A (n.2154G>A)
c.2014G>A (p.Ala672Thr)
c.1720G>A (p.Ala574Thr)
c.1913G>A (n.1913G>A)
c.2029G>A (n.2029G>A)
c.2110G>A (p.Ala704Thr)
c.1738G>A (p.Ala580Thr)
c.421G>A (p.Ala141Thr)
c.1696G>A (p.Ala566Thr)
c.1027G>A (p.Ala343Thr)
c.892G>A (p.Ala298Thr)
c.1444G>A (p.Ala482Thr)
10g.94594716G>CCA377667733HELLSc.784G>C (p.Ala262Pro)
c.2045G>C (n.2045G>C)
c.2248G>C (p.Ala750Pro)
c.1816G>C (p.Ala606Pro)
c.2062G>C (p.Ala688Pro)
n.2110G>C
c.2154G>C (n.2154G>C)
c.2014G>C (p.Ala672Pro)
c.1720G>C (p.Ala574Pro)
c.1913G>C (n.1913G>C)
c.2029G>C (n.2029G>C)
c.2110G>C (p.Ala704Pro)
c.1738G>C (p.Ala580Pro)
c.421G>C (p.Ala141Pro)
c.1696G>C (p.Ala566Pro)
c.1027G>C (p.Ala343Pro)
c.892G>C (p.Ala298Pro)
c.1444G>C (p.Ala482Pro)
10g.94594716G>TCA377667735HELLSc.784G>T (p.Ala262Ser)
c.2045G>T (n.2045G>T)
c.2248G>T (p.Ala750Ser)
c.1816G>T (p.Ala606Ser)
c.2062G>T (p.Ala688Ser)
n.2110G>T
c.2154G>T (n.2154G>T)
c.2014G>T (p.Ala672Ser)
c.1720G>T (p.Ala574Ser)
c.1913G>T (n.1913G>T)
c.2029G>T (n.2029G>T)
c.2110G>T (p.Ala704Ser)
c.1738G>T (p.Ala580Ser)
c.421G>T (p.Ala141Ser)
c.1696G>T (p.Ala566Ser)
c.1027G>T (p.Ala343Ser)
c.892G>T (p.Ala298Ser)
c.1444G>T (p.Ala482Ser)
10g.94594717C>ACA377667738HELLSc.785C>A (p.Ala262Asp)
c.2046C>A (n.2046C>A)
c.2249C>A (p.Ala750Asp)
c.1817C>A (p.Ala606Asp)
c.2063C>A (p.Ala688Asp)
n.2111C>A
c.2155C>A (n.2155C>A)
c.2015C>A (p.Ala672Asp)
c.1721C>A (p.Ala574Asp)
c.1914C>A (n.1914C>A)
c.2030C>A (n.2030C>A)
c.2111C>A (p.Ala704Asp)
c.1739C>A (p.Ala580Asp)
c.422C>A (p.Ala141Asp)
c.1697C>A (p.Ala566Asp)
c.1028C>A (p.Ala343Asp)
c.893C>A (p.Ala298Asp)
c.1445C>A (p.Ala482Asp)
10g.94594717C>GCA377667740HELLSc.785C>G (p.Ala262Gly)
c.2046C>G (n.2046C>G)
c.2249C>G (p.Ala750Gly)
c.1817C>G (p.Ala606Gly)
c.2063C>G (p.Ala688Gly)
n.2111C>G
c.2155C>G (n.2155C>G)
c.2015C>G (p.Ala672Gly)
c.1721C>G (p.Ala574Gly)
c.1914C>G (n.1914C>G)
c.2030C>G (n.2030C>G)
c.2111C>G (p.Ala704Gly)
c.1739C>G (p.Ala580Gly)
c.422C>G (p.Ala141Gly)
c.1697C>G (p.Ala566Gly)
c.1028C>G (p.Ala343Gly)
c.893C>G (p.Ala298Gly)
c.1445C>G (p.Ala482Gly)
10g.94594717C>TCA377667742HELLSc.785C>T (p.Ala262Val)
c.2046C>T (n.2046C>T)
c.2249C>T (p.Ala750Val)
c.1817C>T (p.Ala606Val)
c.2063C>T (p.Ala688Val)
n.2111C>T
c.2155C>T (n.2155C>T)
c.2015C>T (p.Ala672Val)
c.1721C>T (p.Ala574Val)
c.1914C>T (n.1914C>T)
c.2030C>T (n.2030C>T)
c.2111C>T (p.Ala704Val)
c.1739C>T (p.Ala580Val)
c.422C>T (p.Ala141Val)
c.1697C>T (p.Ala566Val)
c.1028C>T (p.Ala343Val)
c.893C>T (p.Ala298Val)
c.1445C>T (p.Ala482Val)
10g.94594718C>ACA470822460HELLSc.786C>A (p.Ala262=)
c.2047C>A (n.2047C>A)
c.2250C>A (p.Ala750=)
c.1818C>A (p.Ala606=)
c.2064C>A (p.Ala688=)
n.2112C>A
c.2156C>A (n.2156C>A)
c.2016C>A (p.Ala672=)
c.1722C>A (p.Ala574=)
c.1915C>A (n.1915C>A)
c.2031C>A (n.2031C>A)
c.2112C>A (p.Ala704=)
c.1740C>A (p.Ala580=)
c.423C>A (p.Ala141=)
c.1698C>A (p.Ala566=)
c.1029C>A (p.Ala343=)
c.894C>A (p.Ala298=)
c.1446C>A (p.Ala482=)
10g.94594718C>GCA470822461HELLSc.786C>G (p.Ala262=)
c.2047C>G (n.2047C>G)
c.2250C>G (p.Ala750=)
c.1818C>G (p.Ala606=)
c.2064C>G (p.Ala688=)
n.2112C>G
c.2156C>G (n.2156C>G)
c.2016C>G (p.Ala672=)
c.1722C>G (p.Ala574=)
c.1915C>G (n.1915C>G)
c.2031C>G (n.2031C>G)
c.2112C>G (p.Ala704=)
c.1740C>G (p.Ala580=)
c.423C>G (p.Ala141=)
c.1698C>G (p.Ala566=)
c.1029C>G (p.Ala343=)
c.894C>G (p.Ala298=)
c.1446C>G (p.Ala482=)
10g.94594718C>TCA470822462HELLSc.786C>T (p.Ala262=)
c.2047C>T (n.2047C>T)
c.2250C>T (p.Ala750=)
c.1818C>T (p.Ala606=)
c.2064C>T (p.Ala688=)
n.2112C>T
c.2156C>T (n.2156C>T)
c.2016C>T (p.Ala672=)
c.1722C>T (p.Ala574=)
c.1915C>T (n.1915C>T)
c.2031C>T (n.2031C>T)
c.2112C>T (p.Ala704=)
c.1740C>T (p.Ala580=)
c.423C>T (p.Ala141=)
c.1698C>T (p.Ala566=)
c.1029C>T (p.Ala343=)
c.894C>T (p.Ala298=)
c.1446C>T (p.Ala482=)
 gnomAD v4
10g.94594719C>ACA377667748HELLSc.787C>A (p.Gln263Lys)
c.2048C>A (n.2048C>A)
c.2251C>A (p.Gln751Lys)
c.1819C>A (p.Gln607Lys)
c.2065C>A (p.Gln689Lys)
n.2113C>A
c.2157C>A (n.2157C>A)
c.2017C>A (p.Gln673Lys)
c.1723C>A (p.Gln575Lys)
c.1916C>A (n.1916C>A)
c.2032C>A (n.2032C>A)
c.2113C>A (p.Gln705Lys)
c.1741C>A (p.Gln581Lys)
c.424C>A (p.Gln142Lys)
c.1699C>A (p.Gln567Lys)
c.1030C>A (p.Gln344Lys)
c.895C>A (p.Gln299Lys)
c.1447C>A (p.Gln483Lys)
10g.94594719C>GCA377667746HELLSc.787C>G (p.Gln263Glu)
c.2048C>G (n.2048C>G)
c.2251C>G (p.Gln751Glu)
c.1819C>G (p.Gln607Glu)
c.2065C>G (p.Gln689Glu)
n.2113C>G
c.2157C>G (n.2157C>G)
c.2017C>G (p.Gln673Glu)
c.1723C>G (p.Gln575Glu)
c.1916C>G (n.1916C>G)
c.2032C>G (n.2032C>G)
c.2113C>G (p.Gln705Glu)
c.1741C>G (p.Gln581Glu)
c.424C>G (p.Gln142Glu)
c.1699C>G (p.Gln567Glu)
c.1030C>G (p.Gln344Glu)
c.895C>G (p.Gln299Glu)
c.1447C>G (p.Gln483Glu)
10g.94594719C>TCA377667744HELLSc.787C>T (p.Gln263Ter)
c.2048C>T (n.2048C>T)
c.2251C>T (p.Gln751Ter)
c.1819C>T (p.Gln607Ter)
c.2065C>T (p.Gln689Ter)
n.2113C>T
c.2157C>T (n.2157C>T)
c.2017C>T (p.Gln673Ter)
c.1723C>T (p.Gln575Ter)
c.1916C>T (n.1916C>T)
c.2032C>T (n.2032C>T)
c.2113C>T (p.Gln705Ter)
c.1741C>T (p.Gln581Ter)
c.424C>T (p.Gln142Ter)
c.1699C>T (p.Gln567Ter)
c.1030C>T (p.Gln344Ter)
c.895C>T (p.Gln299Ter)
c.1447C>T (p.Gln483Ter)
10g.94594720A>CCA377667754HELLSc.788A>C (p.Gln263Pro)
c.2049A>C (n.2049A>C)
c.2252A>C (p.Gln751Pro)
c.1820A>C (p.Gln607Pro)
c.2066A>C (p.Gln689Pro)
n.2114A>C
c.2158A>C (n.2158A>C)
c.2018A>C (p.Gln673Pro)
c.1724A>C (p.Gln575Pro)
c.1917A>C (n.1917A>C)
c.2033A>C (n.2033A>C)
c.2114A>C (p.Gln705Pro)
c.1742A>C (p.Gln581Pro)
c.425A>C (p.Gln142Pro)
c.1700A>C (p.Gln567Pro)
c.1031A>C (p.Gln344Pro)
c.896A>C (p.Gln299Pro)
c.1448A>C (p.Gln483Pro)
10g.94594720A>GCA377667752HELLSc.788A>G (p.Gln263Arg)
c.2049A>G (n.2049A>G)
c.2252A>G (p.Gln751Arg)
c.1820A>G (p.Gln607Arg)
c.2066A>G (p.Gln689Arg)
n.2114A>G
c.2158A>G (n.2158A>G)
c.2018A>G (p.Gln673Arg)
c.1724A>G (p.Gln575Arg)
c.1917A>G (n.1917A>G)
c.2033A>G (n.2033A>G)
c.2114A>G (p.Gln705Arg)
c.1742A>G (p.Gln581Arg)
c.425A>G (p.Gln142Arg)
c.1700A>G (p.Gln567Arg)
c.1031A>G (p.Gln344Arg)
c.896A>G (p.Gln299Arg)
c.1448A>G (p.Gln483Arg)
10g.94594720A>TCA377667755HELLSc.788A>T (p.Gln263Leu)
c.2049A>T (n.2049A>T)
c.2252A>T (p.Gln751Leu)
c.1820A>T (p.Gln607Leu)
c.2066A>T (p.Gln689Leu)
n.2114A>T
c.2158A>T (n.2158A>T)
c.2018A>T (p.Gln673Leu)
c.1724A>T (p.Gln575Leu)
c.1917A>T (n.1917A>T)
c.2033A>T (n.2033A>T)
c.2114A>T (p.Gln705Leu)
c.1742A>T (p.Gln581Leu)
c.425A>T (p.Gln142Leu)
c.1700A>T (p.Gln567Leu)
c.1031A>T (p.Gln344Leu)
c.896A>T (p.Gln299Leu)
c.1448A>T (p.Gln483Leu)
10g.94594721G>ACA470822465HELLSc.789G>A (p.Gln263=)
c.2050G>A (n.2050G>A)
c.2253G>A (p.Gln751=)
c.1821G>A (p.Gln607=)
c.2067G>A (p.Gln689=)
n.2115G>A
c.2159G>A (n.2159G>A)
c.2019G>A (p.Gln673=)
c.1725G>A (p.Gln575=)
c.1918G>A (n.1918G>A)
c.2034G>A (n.2034G>A)
c.2115G>A (p.Gln705=)
c.1743G>A (p.Gln581=)
c.426G>A (p.Gln142=)
c.1701G>A (p.Gln567=)
c.1032G>A (p.Gln344=)
c.897G>A (p.Gln299=)
c.1449G>A (p.Gln483=)
 gnomAD v4
10g.94594721G>CCA377667757HELLSc.789G>C (p.Gln263His)
c.2050G>C (n.2050G>C)
c.2253G>C (p.Gln751His)
c.1821G>C (p.Gln607His)
c.2067G>C (p.Gln689His)
n.2115G>C
c.2159G>C (n.2159G>C)
c.2019G>C (p.Gln673His)
c.1725G>C (p.Gln575His)
c.1918G>C (n.1918G>C)
c.2034G>C (n.2034G>C)
c.2115G>C (p.Gln705His)
c.1743G>C (p.Gln581His)
c.426G>C (p.Gln142His)
c.1701G>C (p.Gln567His)
c.1032G>C (p.Gln344His)
c.897G>C (p.Gln299His)
c.1449G>C (p.Gln483His)
10g.94594721G>TCA377667758HELLSc.789G>T (p.Gln263His)
c.2050G>T (n.2050G>T)
c.2253G>T (p.Gln751His)
c.1821G>T (p.Gln607His)
c.2067G>T (p.Gln689His)
n.2115G>T
c.2159G>T (n.2159G>T)
c.2019G>T (p.Gln673His)
c.1725G>T (p.Gln575His)
c.1918G>T (n.1918G>T)
c.2034G>T (n.2034G>T)
c.2115G>T (p.Gln705His)
c.1743G>T (p.Gln581His)
c.426G>T (p.Gln142His)
c.1701G>T (p.Gln567His)
c.1032G>T (p.Gln344His)
c.897G>T (p.Gln299His)
c.1449G>T (p.Gln483His)
10g.94594722G>ACA377667761HELLSc.790G>A (p.Asp264Asn)
c.2051G>A (n.2051G>A)
c.2254G>A (p.Asp752Asn)
c.1822G>A (p.Asp608Asn)
c.2068G>A (p.Asp690Asn)
n.2116G>A
c.2160G>A (n.2160G>A)
c.2020G>A (p.Asp674Asn)
c.1726G>A (p.Asp576Asn)
c.1919G>A (n.1919G>A)
c.2035G>A (n.2035G>A)
c.2116G>A (p.Asp706Asn)
c.1744G>A (p.Asp582Asn)
c.427G>A (p.Asp143Asn)
c.1702G>A (p.Asp568Asn)
c.1033G>A (p.Asp345Asn)
c.898G>A (p.Asp300Asn)
c.1450G>A (p.Asp484Asn)
10g.94594722G>CCA5615657HELLSc.790G>C (p.Asp264His)
c.2051G>C (n.2051G>C)
c.2254G>C (p.Asp752His)
c.1822G>C (p.Asp608His)
c.2068G>C (p.Asp690His)
n.2116G>C
c.2160G>C (n.2160G>C)
c.2020G>C (p.Asp674His)
c.1726G>C (p.Asp576His)
c.1919G>C (n.1919G>C)
c.2035G>C (n.2035G>C)
c.2116G>C (p.Asp706His)
c.1744G>C (p.Asp582His)
c.427G>C (p.Asp143His)
c.1702G>C (p.Asp568His)
c.1033G>C (p.Asp345His)
c.898G>C (p.Asp300His)
c.1450G>C (p.Asp484His)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.94594722G=CA1929136079HELLSc.790G= (p.Asp264=)
c.2051G= (n.2051G=)
c.2254G= (p.Asp752=)
c.1822G= (p.Asp608=)
c.2068G= (p.Asp690=)
n.2116G=
c.2160G= (n.2160G=)
c.2020G= (p.Asp674=)
c.1726G= (p.Asp576=)
c.1919G= (n.1919G=)
c.2035G= (n.2035G=)
c.2116G= (p.Asp706=)
c.1744G= (p.Asp582=)
c.427G= (p.Asp143=)
c.1702G= (p.Asp568=)
c.1033G= (p.Asp345=)
c.898G= (p.Asp300=)
c.1450G= (p.Asp484=)
10g.94594722G>TCA377667763HELLSc.790G>T (p.Asp264Tyr)
c.2051G>T (n.2051G>T)
c.2254G>T (p.Asp752Tyr)
c.1822G>T (p.Asp608Tyr)
c.2068G>T (p.Asp690Tyr)
n.2116G>T
c.2160G>T (n.2160G>T)
c.2020G>T (p.Asp674Tyr)
c.1726G>T (p.Asp576Tyr)
c.1919G>T (n.1919G>T)
c.2035G>T (n.2035G>T)
c.2116G>T (p.Asp706Tyr)
c.1744G>T (p.Asp582Tyr)
c.427G>T (p.Asp143Tyr)
c.1702G>T (p.Asp568Tyr)
c.1033G>T (p.Asp345Tyr)
c.898G>T (p.Asp300Tyr)
c.1450G>T (p.Asp484Tyr)
10g.94594723A>CCA377667765HELLSc.791A>C (p.Asp264Ala)
c.2052A>C (n.2052A>C)
c.2255A>C (p.Asp752Ala)
c.1823A>C (p.Asp608Ala)
c.2069A>C (p.Asp690Ala)
n.2117A>C
c.2161A>C (n.2161A>C)
c.2021A>C (p.Asp674Ala)
c.1727A>C (p.Asp576Ala)
c.1920A>C (n.1920A>C)
c.2036A>C (n.2036A>C)
c.2117A>C (p.Asp706Ala)
c.1745A>C (p.Asp582Ala)
c.428A>C (p.Asp143Ala)
c.1703A>C (p.Asp568Ala)
c.1034A>C (p.Asp345Ala)
c.899A>C (p.Asp300Ala)
c.1451A>C (p.Asp484Ala)
10g.94594723A>GCA377667767HELLSc.791A>G (p.Asp264Gly)
c.2052A>G (n.2052A>G)
c.2255A>G (p.Asp752Gly)
c.1823A>G (p.Asp608Gly)
c.2069A>G (p.Asp690Gly)
n.2117A>G
c.2161A>G (n.2161A>G)
c.2021A>G (p.Asp674Gly)
c.1727A>G (p.Asp576Gly)
c.1920A>G (n.1920A>G)
c.2036A>G (n.2036A>G)
c.2117A>G (p.Asp706Gly)
c.1745A>G (p.Asp582Gly)
c.428A>G (p.Asp143Gly)
c.1703A>G (p.Asp568Gly)
c.1034A>G (p.Asp345Gly)
c.899A>G (p.Asp300Gly)
c.1451A>G (p.Asp484Gly)
10g.94594723A>TCA377667769HELLSc.791A>T (p.Asp264Val)
c.2052A>T (n.2052A>T)
c.2255A>T (p.Asp752Val)
c.1823A>T (p.Asp608Val)
c.2069A>T (p.Asp690Val)
n.2117A>T
c.2161A>T (n.2161A>T)
c.2021A>T (p.Asp674Val)
c.1727A>T (p.Asp576Val)
c.1920A>T (n.1920A>T)
c.2036A>T (n.2036A>T)
c.2117A>T (p.Asp706Val)
c.1745A>T (p.Asp582Val)
c.428A>T (p.Asp143Val)
c.1703A>T (p.Asp568Val)
c.1034A>T (p.Asp345Val)
c.899A>T (p.Asp300Val)
c.1451A>T (p.Asp484Val)
10g.94594724T>ACA377667772HELLSc.792T>A (p.Asp264Glu)
c.2053T>A (n.2053T>A)
c.2256T>A (p.Asp752Glu)
c.1824T>A (p.Asp608Glu)
c.2070T>A (p.Asp690Glu)
n.2118T>A
c.2162T>A (n.2162T>A)
c.2022T>A (p.Asp674Glu)
c.1728T>A (p.Asp576Glu)
c.1921T>A (n.1921T>A)
c.2037T>A (n.2037T>A)
c.2118T>A (p.Asp706Glu)
c.1746T>A (p.Asp582Glu)
c.429T>A (p.Asp143Glu)
c.1704T>A (p.Asp568Glu)
c.1035T>A (p.Asp345Glu)
c.900T>A (p.Asp300Glu)
c.1452T>A (p.Asp484Glu)
10g.94594724T>CCA5615658HELLSc.792T>C (p.Asp264=)
c.2053T>C (n.2053T>C)
c.2256T>C (p.Asp752=)
c.1824T>C (p.Asp608=)
c.2070T>C (p.Asp690=)
n.2118T>C
c.2162T>C (n.2162T>C)
c.2022T>C (p.Asp674=)
c.1728T>C (p.Asp576=)
c.1921T>C (n.1921T>C)
c.2037T>C (n.2037T>C)
c.2118T>C (p.Asp706=)
c.1746T>C (p.Asp582=)
c.429T>C (p.Asp143=)
c.1704T>C (p.Asp568=)
c.1035T>C (p.Asp345=)
c.900T>C (p.Asp300=)
c.1452T>C (p.Asp484=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94594724T>GCA377667775HELLSc.792T>G (p.Asp264Glu)
c.2053T>G (n.2053T>G)
c.2256T>G (p.Asp752Glu)
c.1824T>G (p.Asp608Glu)
c.2070T>G (p.Asp690Glu)
n.2118T>G
c.2162T>G (n.2162T>G)
c.2022T>G (p.Asp674Glu)
c.1728T>G (p.Asp576Glu)
c.1921T>G (n.1921T>G)
c.2037T>G (n.2037T>G)
c.2118T>G (p.Asp706Glu)
c.1746T>G (p.Asp582Glu)
c.429T>G (p.Asp143Glu)
c.1704T>G (p.Asp568Glu)
c.1035T>G (p.Asp345Glu)
c.900T>G (p.Asp300Glu)
c.1452T>G (p.Asp484Glu)
10g.94594724T=CA1929136080HELLSc.792T= (p.Asp264=)
c.2053T= (n.2053T=)
c.2256T= (p.Asp752=)
c.1824T= (p.Asp608=)
c.2070T= (p.Asp690=)
n.2118T=
c.2162T= (n.2162T=)
c.2022T= (p.Asp674=)
c.1728T= (p.Asp576=)
c.1921T= (n.1921T=)
c.2037T= (n.2037T=)
c.2118T= (p.Asp706=)
c.1746T= (p.Asp582=)
c.429T= (p.Asp143=)
c.1704T= (p.Asp568=)
c.1035T= (p.Asp345=)
c.900T= (p.Asp300=)
c.1452T= (p.Asp484=)
10g.94594725A=CA1929136081HELLSc.793A= (p.Arg265=)
c.2054A= (n.2054A=)
c.2257A= (p.Arg753=)
c.1825A= (p.Arg609=)
c.2071A= (p.Arg691=)
n.2119A=
c.2163A= (n.2163A=)
c.2023A= (p.Arg675=)
c.1729A= (p.Arg577=)
c.1922A= (n.1922A=)
c.2038A= (n.2038A=)
c.2119A= (p.Arg707=)
c.1747A= (p.Arg583=)
c.430A= (p.Arg144=)
c.1705A= (p.Arg569=)
c.1036A= (p.Arg346=)
c.901A= (p.Arg301=)
c.1453A= (p.Arg485=)
10g.94594725A>CCA470822467HELLSc.793A>C (p.Arg265=)
c.2054A>C (n.2054A>C)
c.2257A>C (p.Arg753=)
c.1825A>C (p.Arg609=)
c.2071A>C (p.Arg691=)
n.2119A>C
c.2163A>C (n.2163A>C)
c.2023A>C (p.Arg675=)
c.1729A>C (p.Arg577=)
c.1922A>C (n.1922A>C)
c.2038A>C (n.2038A>C)
c.2119A>C (p.Arg707=)
c.1747A>C (p.Arg583=)
c.430A>C (p.Arg144=)
c.1705A>C (p.Arg569=)
c.1036A>C (p.Arg346=)
c.901A>C (p.Arg301=)
c.1453A>C (p.Arg485=)
10g.94594725A>GCA211678013HELLSc.793A>G (p.Arg265Gly)
c.2054A>G (n.2054A>G)
c.2257A>G (p.Arg753Gly)
c.1825A>G (p.Arg609Gly)
c.2071A>G (p.Arg691Gly)
n.2119A>G
c.2163A>G (n.2163A>G)
c.2023A>G (p.Arg675Gly)
c.1729A>G (p.Arg577Gly)
c.1922A>G (n.1922A>G)
c.2038A>G (n.2038A>G)
c.2119A>G (p.Arg707Gly)
c.1747A>G (p.Arg583Gly)
c.430A>G (p.Arg144Gly)
c.1705A>G (p.Arg569Gly)
c.1036A>G (p.Arg346Gly)
c.901A>G (p.Arg301Gly)
c.1453A>G (p.Arg485Gly)
 dbSNP
10g.94594725A>TCA377667778HELLSc.793A>T (p.Arg265Ter)
c.2054A>T (n.2054A>T)
c.2257A>T (p.Arg753Ter)
c.1825A>T (p.Arg609Ter)
c.2071A>T (p.Arg691Ter)
n.2119A>T
c.2163A>T (n.2163A>T)
c.2023A>T (p.Arg675Ter)
c.1729A>T (p.Arg577Ter)
c.1922A>T (n.1922A>T)
c.2038A>T (n.2038A>T)
c.2119A>T (p.Arg707Ter)
c.1747A>T (p.Arg583Ter)
c.430A>T (p.Arg144Ter)
c.1705A>T (p.Arg569Ter)
c.1036A>T (p.Arg346Ter)
c.901A>T (p.Arg301Ter)
c.1453A>T (p.Arg485Ter)
10g.94594726G>ACA377667781HELLSc.794G>A (p.Arg265Lys)
c.2055G>A (n.2055G>A)
c.2258G>A (p.Arg753Lys)
c.1826G>A (p.Arg609Lys)
c.2072G>A (p.Arg691Lys)
n.2120G>A
c.2164G>A (n.2164G>A)
c.2024G>A (p.Arg675Lys)
c.1730G>A (p.Arg577Lys)
c.1923G>A (n.1923G>A)
c.2039G>A (n.2039G>A)
c.2120G>A (p.Arg707Lys)
c.1748G>A (p.Arg583Lys)
c.431G>A (p.Arg144Lys)
c.1706G>A (p.Arg569Lys)
c.1037G>A (p.Arg346Lys)
c.902G>A (p.Arg301Lys)
c.1454G>A (p.Arg485Lys)
 COSMIC COSMIC
10g.94594726G>CCA377667783HELLSc.794G>C (p.Arg265Thr)
c.2055G>C (n.2055G>C)
c.2258G>C (p.Arg753Thr)
c.1826G>C (p.Arg609Thr)
c.2072G>C (p.Arg691Thr)
n.2120G>C
c.2164G>C (n.2164G>C)
c.2024G>C (p.Arg675Thr)
c.1730G>C (p.Arg577Thr)
c.1923G>C (n.1923G>C)
c.2039G>C (n.2039G>C)
c.2120G>C (p.Arg707Thr)
c.1748G>C (p.Arg583Thr)
c.431G>C (p.Arg144Thr)
c.1706G>C (p.Arg569Thr)
c.1037G>C (p.Arg346Thr)
c.902G>C (p.Arg301Thr)
c.1454G>C (p.Arg485Thr)
10g.94594726G>TCA377667784HELLSc.794G>T (p.Arg265Ile)
c.2055G>T (n.2055G>T)
c.2258G>T (p.Arg753Ile)
c.1826G>T (p.Arg609Ile)
c.2072G>T (p.Arg691Ile)
n.2120G>T
c.2164G>T (n.2164G>T)
c.2024G>T (p.Arg675Ile)
c.1730G>T (p.Arg577Ile)
c.1923G>T (n.1923G>T)
c.2039G>T (n.2039G>T)
c.2120G>T (p.Arg707Ile)
c.1748G>T (p.Arg583Ile)
c.431G>T (p.Arg144Ile)
c.1706G>T (p.Arg569Ile)
c.1037G>T (p.Arg346Ile)
c.902G>T (p.Arg301Ile)
c.1454G>T (p.Arg485Ile)
10g.94594727A>CCA377667786HELLSc.795A>C (p.Arg265Ser)
c.2056A>C (n.2056A>C)
c.2259A>C (p.Arg753Ser)
c.1827A>C (p.Arg609Ser)
c.2073A>C (p.Arg691Ser)
n.2121A>C
c.2165A>C (n.2165A>C)
c.2025A>C (p.Arg675Ser)
c.1731A>C (p.Arg577Ser)
c.1924A>C (n.1924A>C)
c.2040A>C (n.2040A>C)
c.2121A>C (p.Arg707Ser)
c.1749A>C (p.Arg583Ser)
c.432A>C (p.Arg144Ser)
c.1707A>C (p.Arg569Ser)
c.1038A>C (p.Arg346Ser)
c.903A>C (p.Arg301Ser)
c.1455A>C (p.Arg485Ser)
10g.94594727A>GCA470822471HELLSc.795A>G (p.Arg265=)
c.2056A>G (n.2056A>G)
c.2259A>G (p.Arg753=)
c.1827A>G (p.Arg609=)
c.2073A>G (p.Arg691=)
n.2121A>G
c.2165A>G (n.2165A>G)
c.2025A>G (p.Arg675=)
c.1731A>G (p.Arg577=)
c.1924A>G (n.1924A>G)
c.2040A>G (n.2040A>G)
c.2121A>G (p.Arg707=)
c.1749A>G (p.Arg583=)
c.432A>G (p.Arg144=)
c.1707A>G (p.Arg569=)
c.1038A>G (p.Arg346=)
c.903A>G (p.Arg301=)
c.1455A>G (p.Arg485=)
 gnomAD v4
10g.94594727A>TCA377667788HELLSc.795A>T (p.Arg265Ser)
c.2056A>T (n.2056A>T)
c.2259A>T (p.Arg753Ser)
c.1827A>T (p.Arg609Ser)
c.2073A>T (p.Arg691Ser)
n.2121A>T
c.2165A>T (n.2165A>T)
c.2025A>T (p.Arg675Ser)
c.1731A>T (p.Arg577Ser)
c.1924A>T (n.1924A>T)
c.2040A>T (n.2040A>T)
c.2121A>T (p.Arg707Ser)
c.1749A>T (p.Arg583Ser)
c.432A>T (p.Arg144Ser)
c.1707A>T (p.Arg569Ser)
c.1038A>T (p.Arg346Ser)
c.903A>T (p.Arg301Ser)
c.1455A>T (p.Arg485Ser)
10g.94594728T>ACA377667792HELLSc.796T>A (p.Cys266Ser)
c.2057T>A (n.2057T>A)
c.2260T>A (p.Cys754Ser)
c.1828T>A (p.Cys610Ser)
c.2074T>A (p.Cys692Ser)
n.2122T>A
c.2166T>A (n.2166T>A)
c.2026T>A (p.Cys676Ser)
c.1732T>A (p.Cys578Ser)
c.1925T>A (n.1925T>A)
c.2041T>A (n.2041T>A)
c.2122T>A (p.Cys708Ser)
c.1750T>A (p.Cys584Ser)
c.433T>A (p.Cys145Ser)
c.1708T>A (p.Cys570Ser)
c.1039T>A (p.Cys347Ser)
c.904T>A (p.Cys302Ser)
c.1456T>A (p.Cys486Ser)
10g.94594728T>CCA377667793HELLSc.796T>C (p.Cys266Arg)
c.2057T>C (n.2057T>C)
c.2260T>C (p.Cys754Arg)
c.1828T>C (p.Cys610Arg)
c.2074T>C (p.Cys692Arg)
n.2122T>C
c.2166T>C (n.2166T>C)
c.2026T>C (p.Cys676Arg)
c.1732T>C (p.Cys578Arg)
c.1925T>C (n.1925T>C)
c.2041T>C (n.2041T>C)
c.2122T>C (p.Cys708Arg)
c.1750T>C (p.Cys584Arg)
c.433T>C (p.Cys145Arg)
c.1708T>C (p.Cys570Arg)
c.1039T>C (p.Cys347Arg)
c.904T>C (p.Cys302Arg)
c.1456T>C (p.Cys486Arg)
10g.94594728T>GCA377667795HELLSc.796T>G (p.Cys266Gly)
c.2057T>G (n.2057T>G)
c.2260T>G (p.Cys754Gly)
c.1828T>G (p.Cys610Gly)
c.2074T>G (p.Cys692Gly)
n.2122T>G
c.2166T>G (n.2166T>G)
c.2026T>G (p.Cys676Gly)
c.1732T>G (p.Cys578Gly)
c.1925T>G (n.1925T>G)
c.2041T>G (n.2041T>G)
c.2122T>G (p.Cys708Gly)
c.1750T>G (p.Cys584Gly)
c.433T>G (p.Cys145Gly)
c.1708T>G (p.Cys570Gly)
c.1039T>G (p.Cys347Gly)
c.904T>G (p.Cys302Gly)
c.1456T>G (p.Cys486Gly)
10g.94594729G>ACA377667797HELLSc.797G>A (p.Cys266Tyr)
c.2058G>A (n.2058G>A)
c.2261G>A (p.Cys754Tyr)
c.1829G>A (p.Cys610Tyr)
c.2075G>A (p.Cys692Tyr)
n.2123G>A
c.2167G>A (n.2167G>A)
c.2027G>A (p.Cys676Tyr)
c.1733G>A (p.Cys578Tyr)
c.1926G>A (n.1926G>A)
c.2042G>A (n.2042G>A)
c.2123G>A (p.Cys708Tyr)
c.1751G>A (p.Cys584Tyr)
c.434G>A (p.Cys145Tyr)
c.1709G>A (p.Cys570Tyr)
c.1040G>A (p.Cys347Tyr)
c.905G>A (p.Cys302Tyr)
c.1457G>A (p.Cys486Tyr)
10g.94594729G>CCA377667799HELLSc.797G>C (p.Cys266Ser)
c.2058G>C (n.2058G>C)
c.2261G>C (p.Cys754Ser)
c.1829G>C (p.Cys610Ser)
c.2075G>C (p.Cys692Ser)
n.2123G>C
c.2167G>C (n.2167G>C)
c.2027G>C (p.Cys676Ser)
c.1733G>C (p.Cys578Ser)
c.1926G>C (n.1926G>C)
c.2042G>C (n.2042G>C)
c.2123G>C (p.Cys708Ser)
c.1751G>C (p.Cys584Ser)
c.434G>C (p.Cys145Ser)
c.1709G>C (p.Cys570Ser)
c.1040G>C (p.Cys347Ser)
c.905G>C (p.Cys302Ser)
c.1457G>C (p.Cys486Ser)
10g.94594729G=CA1929136082HELLSc.797G= (p.Cys266=)
c.2058G= (n.2058G=)
c.2261G= (p.Cys754=)
c.1829G= (p.Cys610=)
c.2075G= (p.Cys692=)
n.2123G=
c.2167G= (n.2167G=)
c.2027G= (p.Cys676=)
c.1733G= (p.Cys578=)
c.1926G= (n.1926G=)
c.2042G= (n.2042G=)
c.2123G= (p.Cys708=)
c.1751G= (p.Cys584=)
c.434G= (p.Cys145=)
c.1709G= (p.Cys570=)
c.1040G= (p.Cys347=)
c.905G= (p.Cys302=)
c.1457G= (p.Cys486=)
10g.94594729G>TCA5615659HELLSc.797G>T (p.Cys266Phe)
c.2058G>T (n.2058G>T)
c.2261G>T (p.Cys754Phe)
c.1829G>T (p.Cys610Phe)
c.2075G>T (p.Cys692Phe)
n.2123G>T
c.2167G>T (n.2167G>T)
c.2027G>T (p.Cys676Phe)
c.1733G>T (p.Cys578Phe)
c.1926G>T (n.1926G>T)
c.2042G>T (n.2042G>T)
c.2123G>T (p.Cys708Phe)
c.1751G>T (p.Cys584Phe)
c.434G>T (p.Cys145Phe)
c.1709G>T (p.Cys570Phe)
c.1040G>T (p.Cys347Phe)
c.905G>T (p.Cys302Phe)
c.1457G>T (p.Cys486Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.94594730T>ACA377667801HELLSc.798T>A (p.Cys266Ter)
c.2059T>A (n.2059T>A)
c.2262T>A (p.Cys754Ter)
c.1830T>A (p.Cys610Ter)
c.2076T>A (p.Cys692Ter)
n.2124T>A
c.2168T>A (n.2168T>A)
c.2028T>A (p.Cys676Ter)
c.1734T>A (p.Cys578Ter)
c.1927T>A (n.1927T>A)
c.2043T>A (n.2043T>A)
c.2124T>A (p.Cys708Ter)
c.1752T>A (p.Cys584Ter)
c.435T>A (p.Cys145Ter)
c.1710T>A (p.Cys570Ter)
c.1041T>A (p.Cys347Ter)
c.906T>A (p.Cys302Ter)
c.1458T>A (p.Cys486Ter)
10g.94594730T>CCA470822473HELLSc.798T>C (p.Cys266=)
c.2059T>C (n.2059T>C)
c.2262T>C (p.Cys754=)
c.1830T>C (p.Cys610=)
c.2076T>C (p.Cys692=)
n.2124T>C
c.2168T>C (n.2168T>C)
c.2028T>C (p.Cys676=)
c.1734T>C (p.Cys578=)
c.1927T>C (n.1927T>C)
c.2043T>C (n.2043T>C)
c.2124T>C (p.Cys708=)
c.1752T>C (p.Cys584=)
c.435T>C (p.Cys145=)
c.1710T>C (p.Cys570=)
c.1041T>C (p.Cys347=)
c.906T>C (p.Cys302=)
c.1458T>C (p.Cys486=)
10g.94594730T>GCA377667803HELLSc.798T>G (p.Cys266Trp)
c.2059T>G (n.2059T>G)
c.2262T>G (p.Cys754Trp)
c.1830T>G (p.Cys610Trp)
c.2076T>G (p.Cys692Trp)
n.2124T>G
c.2168T>G (n.2168T>G)
c.2028T>G (p.Cys676Trp)
c.1734T>G (p.Cys578Trp)
c.1927T>G (n.1927T>G)
c.2043T>G (n.2043T>G)
c.2124T>G (p.Cys708Trp)
c.1752T>G (p.Cys584Trp)
c.435T>G (p.Cys145Trp)
c.1710T>G (p.Cys570Trp)
c.1041T>G (p.Cys347Trp)
c.906T>G (p.Cys302Trp)
c.1458T>G (p.Cys486Trp)
10g.94594731C>ACA377667805HELLSc.799C>A (p.His267Asn)
c.2060C>A (n.2060C>A)
c.2263C>A (p.His755Asn)
c.1831C>A (p.His611Asn)
c.2077C>A (p.His693Asn)
n.2125C>A
c.2169C>A (n.2169C>A)
c.2029C>A (p.His677Asn)
c.1735C>A (p.His579Asn)
c.1928C>A (n.1928C>A)
c.2044C>A (n.2044C>A)
c.2125C>A (p.His709Asn)
c.1753C>A (p.His585Asn)
c.436C>A (p.His146Asn)
c.1711C>A (p.His571Asn)
c.1042C>A (p.His348Asn)
c.907C>A (p.His303Asn)
c.1459C>A (p.His487Asn)
 gnomAD v4
10g.94594731C>GCA377667807HELLSc.799C>G (p.His267Asp)
c.2060C>G (n.2060C>G)
c.2263C>G (p.His755Asp)
c.1831C>G (p.His611Asp)
c.2077C>G (p.His693Asp)
n.2125C>G
c.2169C>G (n.2169C>G)
c.2029C>G (p.His677Asp)
c.1735C>G (p.His579Asp)
c.1928C>G (n.1928C>G)
c.2044C>G (n.2044C>G)
c.2125C>G (p.His709Asp)
c.1753C>G (p.His585Asp)
c.436C>G (p.His146Asp)
c.1711C>G (p.His571Asp)
c.1042C>G (p.His348Asp)
c.907C>G (p.His303Asp)
c.1459C>G (p.His487Asp)
10g.94594731C>TCA377667809HELLSc.799C>T (p.His267Tyr)
c.2060C>T (n.2060C>T)
c.2263C>T (p.His755Tyr)
c.1831C>T (p.His611Tyr)
c.2077C>T (p.His693Tyr)
n.2125C>T
c.2169C>T (n.2169C>T)
c.2029C>T (p.His677Tyr)
c.1735C>T (p.His579Tyr)
c.1928C>T (n.1928C>T)
c.2044C>T (n.2044C>T)
c.2125C>T (p.His709Tyr)
c.1753C>T (p.His585Tyr)
c.436C>T (p.His146Tyr)
c.1711C>T (p.His571Tyr)
c.1042C>T (p.His348Tyr)
c.907C>T (p.His303Tyr)
c.1459C>T (p.His487Tyr)
10g.94594732A>CCA377667814HELLSc.800A>C (p.His267Pro)
c.2061A>C (n.2061A>C)
c.2264A>C (p.His755Pro)
c.1832A>C (p.His611Pro)
c.2078A>C (p.His693Pro)
n.2126A>C
c.2170A>C (n.2170A>C)
c.2030A>C (p.His677Pro)
c.1736A>C (p.His579Pro)
c.1929A>C (n.1929A>C)
c.2045A>C (n.2045A>C)
c.2126A>C (p.His709Pro)
c.1754A>C (p.His585Pro)
c.437A>C (p.His146Pro)
c.1712A>C (p.His571Pro)
c.1043A>C (p.His348Pro)
c.908A>C (p.His303Pro)
c.1460A>C (p.His487Pro)
 gnomAD v4
10g.94594732A>GCA377667812HELLSc.800A>G (p.His267Arg)
c.2061A>G (n.2061A>G)
c.2264A>G (p.His755Arg)
c.1832A>G (p.His611Arg)
c.2078A>G (p.His693Arg)
n.2126A>G
c.2170A>G (n.2170A>G)
c.2030A>G (p.His677Arg)
c.1736A>G (p.His579Arg)
c.1929A>G (n.1929A>G)
c.2045A>G (n.2045A>G)
c.2126A>G (p.His709Arg)
c.1754A>G (p.His585Arg)
c.437A>G (p.His146Arg)
c.1712A>G (p.His571Arg)
c.1043A>G (p.His348Arg)
c.908A>G (p.His303Arg)
c.1460A>G (p.His487Arg)
10g.94594732A>TCA377667811HELLSc.800A>T (p.His267Leu)
c.2061A>T (n.2061A>T)
c.2264A>T (p.His755Leu)
c.1832A>T (p.His611Leu)
c.2078A>T (p.His693Leu)
n.2126A>T
c.2170A>T (n.2170A>T)
c.2030A>T (p.His677Leu)
c.1736A>T (p.His579Leu)
c.1929A>T (n.1929A>T)
c.2045A>T (n.2045A>T)
c.2126A>T (p.His709Leu)
c.1754A>T (p.His585Leu)
c.437A>T (p.His146Leu)
c.1712A>T (p.His571Leu)
c.1043A>T (p.His348Leu)
c.908A>T (p.His303Leu)
c.1460A>T (p.His487Leu)
10g.94594733T>ACA377667816HELLSc.801T>A (p.His267Gln)
c.2062T>A (n.2062T>A)
c.2265T>A (p.His755Gln)
c.1833T>A (p.His611Gln)
c.2079T>A (p.His693Gln)
n.2127T>A
c.2171T>A (n.2171T>A)
c.2031T>A (p.His677Gln)
c.1737T>A (p.His579Gln)
c.1930T>A (n.1930T>A)
c.2046T>A (n.2046T>A)
c.2127T>A (p.His709Gln)
c.1755T>A (p.His585Gln)
c.438T>A (p.His146Gln)
c.1713T>A (p.His571Gln)
c.1044T>A (p.His348Gln)
c.909T>A (p.His303Gln)
c.1461T>A (p.His487Gln)
10g.94594733T>CCA470822476HELLSc.801T>C (p.His267=)
c.2062T>C (n.2062T>C)
c.2265T>C (p.His755=)
c.1833T>C (p.His611=)
c.2079T>C (p.His693=)
n.2127T>C
c.2171T>C (n.2171T>C)
c.2031T>C (p.His677=)
c.1737T>C (p.His579=)
c.1930T>C (n.1930T>C)
c.2046T>C (n.2046T>C)
c.2127T>C (p.His709=)
c.1755T>C (p.His585=)
c.438T>C (p.His146=)
c.1713T>C (p.His571=)
c.1044T>C (p.His348=)
c.909T>C (p.His303=)
c.1461T>C (p.His487=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.94594733T>GCA377667819HELLSc.801T>G (p.His267Gln)
c.2062T>G (n.2062T>G)
c.2265T>G (p.His755Gln)
c.1833T>G (p.His611Gln)
c.2079T>G (p.His693Gln)
n.2127T>G
c.2171T>G (n.2171T>G)
c.2031T>G (p.His677Gln)
c.1737T>G (p.His579Gln)
c.1930T>G (n.1930T>G)
c.2046T>G (n.2046T>G)
c.2127T>G (p.His709Gln)
c.1755T>G (p.His585Gln)
c.438T>G (p.His146Gln)
c.1713T>G (p.His571Gln)
c.1044T>G (p.His348Gln)
c.909T>G (p.His303Gln)
c.1461T>G (p.His487Gln)
10g.94594733T=CA1929136083HELLSc.801T= (p.His267=)
c.2062T= (n.2062T=)
c.2265T= (p.His755=)
c.1833T= (p.His611=)
c.2079T= (p.His693=)
n.2127T=
c.2171T= (n.2171T=)
c.2031T= (p.His677=)
c.1737T= (p.His579=)
c.1930T= (n.1930T=)
c.2046T= (n.2046T=)
c.2127T= (p.His709=)
c.1755T= (p.His585=)
c.438T= (p.His146=)
c.1713T= (p.His571=)
c.1044T= (p.His348=)
c.909T= (p.His303=)
c.1461T= (p.His487=)
10g.94594734A>CCA470822479HELLSc.802A>C (p.Arg268=)
c.2063A>C (n.2063A>C)
c.2266A>C (p.Arg756=)
c.1834A>C (p.Arg612=)
c.2080A>C (p.Arg694=)
n.2128A>C
c.2172A>C (n.2172A>C)
c.2032A>C (p.Arg678=)
c.1738A>C (p.Arg580=)
c.1931A>C (n.1931A>C)
c.2047A>C (n.2047A>C)
c.2128A>C (p.Arg710=)
c.1756A>C (p.Arg586=)
c.439A>C (p.Arg147=)
c.1714A>C (p.Arg572=)
c.1045A>C (p.Arg349=)
c.910A>C (p.Arg304=)
c.1462A>C (p.Arg488=)
10g.94594734A>GCA377667821HELLSc.802A>G (p.Arg268Gly)
c.2063A>G (n.2063A>G)
c.2266A>G (p.Arg756Gly)
c.1834A>G (p.Arg612Gly)
c.2080A>G (p.Arg694Gly)
n.2128A>G
c.2172A>G (n.2172A>G)
c.2032A>G (p.Arg678Gly)
c.1738A>G (p.Arg580Gly)
c.1931A>G (n.1931A>G)
c.2047A>G (n.2047A>G)
c.2128A>G (p.Arg710Gly)
c.1756A>G (p.Arg586Gly)
c.439A>G (p.Arg147Gly)
c.1714A>G (p.Arg572Gly)
c.1045A>G (p.Arg349Gly)
c.910A>G (p.Arg304Gly)
c.1462A>G (p.Arg488Gly)
10g.94594734A>TCA377667823HELLSc.802A>T (p.Arg268Ter)
c.2063A>T (n.2063A>T)
c.2266A>T (p.Arg756Ter)
c.1834A>T (p.Arg612Ter)
c.2080A>T (p.Arg694Ter)
n.2128A>T
c.2172A>T (n.2172A>T)
c.2032A>T (p.Arg678Ter)
c.1738A>T (p.Arg580Ter)
c.1931A>T (n.1931A>T)
c.2047A>T (n.2047A>T)
c.2128A>T (p.Arg710Ter)
c.1756A>T (p.Arg586Ter)
c.439A>T (p.Arg147Ter)
c.1714A>T (p.Arg572Ter)
c.1045A>T (p.Arg349Ter)
c.910A>T (p.Arg304Ter)
c.1462A>T (p.Arg488Ter)
10g.94594735G>ACA377667825HELLSc.803G>A (p.Arg268Lys)
c.2064G>A (n.2064G>A)
c.2267G>A (p.Arg756Lys)
c.1835G>A (p.Arg612Lys)
c.2081G>A (p.Arg694Lys)
n.2129G>A
c.2173G>A (n.2173G>A)
c.2033G>A (p.Arg678Lys)
c.1739G>A (p.Arg580Lys)
c.1932G>A (n.1932G>A)
c.2048G>A (n.2048G>A)
c.2129G>A (p.Arg710Lys)
c.1757G>A (p.Arg586Lys)
c.440G>A (p.Arg147Lys)
c.1715G>A (p.Arg572Lys)
c.1046G>A (p.Arg349Lys)
c.911G>A (p.Arg304Lys)
c.1463G>A (p.Arg488Lys)
10g.94594735G>CCA377667827HELLSc.803G>C (p.Arg268Thr)
c.2064G>C (n.2064G>C)
c.2267G>C (p.Arg756Thr)
c.1835G>C (p.Arg612Thr)
c.2081G>C (p.Arg694Thr)
n.2129G>C
c.2173G>C (n.2173G>C)
c.2033G>C (p.Arg678Thr)
c.1739G>C (p.Arg580Thr)
c.1932G>C (n.1932G>C)
c.2048G>C (n.2048G>C)
c.2129G>C (p.Arg710Thr)
c.1757G>C (p.Arg586Thr)
c.440G>C (p.Arg147Thr)
c.1715G>C (p.Arg572Thr)
c.1046G>C (p.Arg349Thr)
c.911G>C (p.Arg304Thr)
c.1463G>C (p.Arg488Thr)
10g.94594735G>TCA377667829HELLSc.803G>T (p.Arg268Ile)
c.2064G>T (n.2064G>T)
c.2267G>T (p.Arg756Ile)
c.1835G>T (p.Arg612Ile)
c.2081G>T (p.Arg694Ile)
n.2129G>T
c.2173G>T (n.2173G>T)
c.2033G>T (p.Arg678Ile)
c.1739G>T (p.Arg580Ile)
c.1932G>T (n.1932G>T)
c.2048G>T (n.2048G>T)
c.2129G>T (p.Arg710Ile)
c.1757G>T (p.Arg586Ile)
c.440G>T (p.Arg147Ile)
c.1715G>T (p.Arg572Ile)
c.1046G>T (p.Arg349Ile)
c.911G>T (p.Arg304Ile)
c.1463G>T (p.Arg488Ile)
10g.94594736A>CCA377667830HELLSc.804A>C (p.Arg268Ser)
c.2065A>C (n.2065A>C)
c.2268A>C (p.Arg756Ser)
c.1836A>C (p.Arg612Ser)
c.2082A>C (p.Arg694Ser)
n.2130A>C
c.2174A>C (n.2174A>C)
c.2034A>C (p.Arg678Ser)
c.1740A>C (p.Arg580Ser)
c.1933A>C (n.1933A>C)
c.2049A>C (n.2049A>C)
c.2130A>C (p.Arg710Ser)
c.1758A>C (p.Arg586Ser)
c.441A>C (p.Arg147Ser)
c.1716A>C (p.Arg572Ser)
c.1047A>C (p.Arg349Ser)
c.912A>C (p.Arg304Ser)
c.1464A>C (p.Arg488Ser)
10g.94594736A>GCA470822481HELLSc.804A>G (p.Arg268=)
c.2065A>G (n.2065A>G)
c.2268A>G (p.Arg756=)
c.1836A>G (p.Arg612=)
c.2082A>G (p.Arg694=)
n.2130A>G
c.2174A>G (n.2174A>G)
c.2034A>G (p.Arg678=)
c.1740A>G (p.Arg580=)
c.1933A>G (n.1933A>G)
c.2049A>G (n.2049A>G)
c.2130A>G (p.Arg710=)
c.1758A>G (p.Arg586=)
c.441A>G (p.Arg147=)
c.1716A>G (p.Arg572=)
c.1047A>G (p.Arg349=)
c.912A>G (p.Arg304=)
c.1464A>G (p.Arg488=)
10g.94594736A>TCA377667832HELLSc.804A>T (p.Arg268Ser)
c.2065A>T (n.2065A>T)
c.2268A>T (p.Arg756Ser)
c.1836A>T (p.Arg612Ser)
c.2082A>T (p.Arg694Ser)
n.2130A>T
c.2174A>T (n.2174A>T)
c.2034A>T (p.Arg678Ser)
c.1740A>T (p.Arg580Ser)
c.1933A>T (n.1933A>T)
c.2049A>T (n.2049A>T)
c.2130A>T (p.Arg710Ser)
c.1758A>T (p.Arg586Ser)
c.441A>T (p.Arg147Ser)
c.1716A>T (p.Arg572Ser)
c.1047A>T (p.Arg349Ser)
c.912A>T (p.Arg304Ser)
c.1464A>T (p.Arg488Ser)
10g.94594737A>CCA377667835HELLSc.805A>C (p.Ile269Leu)
c.2066A>C (n.2066A>C)
c.2269A>C (p.Ile757Leu)
c.1837A>C (p.Ile613Leu)
c.2083A>C (p.Ile695Leu)
n.2131A>C
c.2175A>C (n.2175A>C)
c.2035A>C (p.Ile679Leu)
c.1741A>C (p.Ile581Leu)
c.1934A>C (n.1934A>C)
c.2050A>C (n.2050A>C)
c.2131A>C (p.Ile711Leu)
c.1759A>C (p.Ile587Leu)
c.442A>C (p.Ile148Leu)
c.1717A>C (p.Ile573Leu)
c.1048A>C (p.Ile350Leu)
c.913A>C (p.Ile305Leu)
c.1465A>C (p.Ile489Leu)
10g.94594737A>GCA377667837HELLSc.805A>G (p.Ile269Val)
c.2066A>G (n.2066A>G)
c.2269A>G (p.Ile757Val)
c.1837A>G (p.Ile613Val)
c.2083A>G (p.Ile695Val)
n.2131A>G
c.2175A>G (n.2175A>G)
c.2035A>G (p.Ile679Val)
c.1741A>G (p.Ile581Val)
c.1934A>G (n.1934A>G)
c.2050A>G (n.2050A>G)
c.2131A>G (p.Ile711Val)
c.1759A>G (p.Ile587Val)
c.442A>G (p.Ile148Val)
c.1717A>G (p.Ile573Val)
c.1048A>G (p.Ile350Val)
c.913A>G (p.Ile305Val)
c.1465A>G (p.Ile489Val)
 gnomAD v4
10g.94594737A>TCA377667839HELLSc.805A>T (p.Ile269Phe)
c.2066A>T (n.2066A>T)
c.2269A>T (p.Ile757Phe)
c.1837A>T (p.Ile613Phe)
c.2083A>T (p.Ile695Phe)
n.2131A>T
c.2175A>T (n.2175A>T)
c.2035A>T (p.Ile679Phe)
c.1741A>T (p.Ile581Phe)
c.1934A>T (n.1934A>T)
c.2050A>T (n.2050A>T)
c.2131A>T (p.Ile711Phe)
c.1759A>T (p.Ile587Phe)
c.442A>T (p.Ile148Phe)
c.1717A>T (p.Ile573Phe)
c.1048A>T (p.Ile350Phe)
c.913A>T (p.Ile305Phe)
c.1465A>T (p.Ile489Phe)
10g.94594738T>ACA377667844HELLSc.806T>A (p.Ile269Asn)
c.2067T>A (n.2067T>A)
c.2270T>A (p.Ile757Asn)
c.1838T>A (p.Ile613Asn)
c.2084T>A (p.Ile695Asn)
n.2132T>A
c.2176T>A (n.2176T>A)
c.2036T>A (p.Ile679Asn)
c.1742T>A (p.Ile581Asn)
c.1935T>A (n.1935T>A)
c.2051T>A (n.2051T>A)
c.2132T>A (p.Ile711Asn)
c.1760T>A (p.Ile587Asn)
c.443T>A (p.Ile148Asn)
c.1718T>A (p.Ile573Asn)
c.1049T>A (p.Ile350Asn)
c.914T>A (p.Ile305Asn)
c.1466T>A (p.Ile489Asn)
10g.94594738T>CCA377667843HELLSc.806T>C (p.Ile269Thr)
c.2067T>C (n.2067T>C)
c.2270T>C (p.Ile757Thr)
c.1838T>C (p.Ile613Thr)
c.2084T>C (p.Ile695Thr)
n.2132T>C
c.2176T>C (n.2176T>C)
c.2036T>C (p.Ile679Thr)
c.1742T>C (p.Ile581Thr)
c.1935T>C (n.1935T>C)
c.2051T>C (n.2051T>C)
c.2132T>C (p.Ile711Thr)
c.1760T>C (p.Ile587Thr)
c.443T>C (p.Ile148Thr)
c.1718T>C (p.Ile573Thr)
c.1049T>C (p.Ile350Thr)
c.914T>C (p.Ile305Thr)
c.1466T>C (p.Ile489Thr)
10g.94594738T>GCA377667842HELLSc.806T>G (p.Ile269Ser)
c.2067T>G (n.2067T>G)
c.2270T>G (p.Ile757Ser)
c.1838T>G (p.Ile613Ser)
c.2084T>G (p.Ile695Ser)
n.2132T>G
c.2176T>G (n.2176T>G)
c.2036T>G (p.Ile679Ser)
c.1742T>G (p.Ile581Ser)
c.1935T>G (n.1935T>G)
c.2051T>G (n.2051T>G)
c.2132T>G (p.Ile711Ser)
c.1760T>G (p.Ile587Ser)
c.443T>G (p.Ile148Ser)
c.1718T>G (p.Ile573Ser)
c.1049T>G (p.Ile350Ser)
c.914T>G (p.Ile305Ser)
c.1466T>G (p.Ile489Ser)
10g.94594739T>ACA470822482HELLSc.807T>A (p.Ile269=)
c.2068T>A (n.2068T>A)
c.2271T>A (p.Ile757=)
c.1839T>A (p.Ile613=)
c.2085T>A (p.Ile695=)
n.2133T>A
c.2177T>A (n.2177T>A)
c.2037T>A (p.Ile679=)
c.1743T>A (p.Ile581=)
c.1936T>A (n.1936T>A)
c.2052T>A (n.2052T>A)
c.2133T>A (p.Ile711=)
c.1761T>A (p.Ile587=)
c.444T>A (p.Ile148=)
c.1719T>A (p.Ile573=)
c.1050T>A (p.Ile350=)
c.915T>A (p.Ile305=)
c.1467T>A (p.Ile489=)
10g.94594739T>CCA470822483HELLSc.807T>C (p.Ile269=)
c.2068T>C (n.2068T>C)
c.2271T>C (p.Ile757=)
c.1839T>C (p.Ile613=)
c.2085T>C (p.Ile695=)
n.2133T>C
c.2177T>C (n.2177T>C)
c.2037T>C (p.Ile679=)
c.1743T>C (p.Ile581=)
c.1936T>C (n.1936T>C)
c.2052T>C (n.2052T>C)
c.2133T>C (p.Ile711=)
c.1761T>C (p.Ile587=)
c.444T>C (p.Ile148=)
c.1719T>C (p.Ile573=)
c.1050T>C (p.Ile350=)
c.915T>C (p.Ile305=)
c.1467T>C (p.Ile489=)
10g.94594739T>GCA377667846HELLSc.807T>G (p.Ile269Met)
c.2068T>G (n.2068T>G)
c.2271T>G (p.Ile757Met)
c.1839T>G (p.Ile613Met)
c.2085T>G (p.Ile695Met)
n.2133T>G
c.2177T>G (n.2177T>G)
c.2037T>G (p.Ile679Met)
c.1743T>G (p.Ile581Met)
c.1936T>G (n.1936T>G)
c.2052T>G (n.2052T>G)
c.2133T>G (p.Ile711Met)
c.1761T>G (p.Ile587Met)
c.444T>G (p.Ile148Met)
c.1719T>G (p.Ile573Met)
c.1050T>G (p.Ile350Met)
c.915T>G (p.Ile305Met)
c.1467T>G (p.Ile489Met)
10g.94594740G>ACA377667849HELLSc.808G>A (p.Gly270Ser)
c.2069G>A (n.2069G>A)
c.2272G>A (p.Gly758Ser)
c.1840G>A (p.Gly614Ser)
c.2086G>A (p.Gly696Ser)
n.2134G>A
c.2178G>A (n.2178G>A)
c.2038G>A (p.Gly680Ser)
c.1744G>A (p.Gly582Ser)
c.1937G>A (n.1937G>A)
c.2053G>A (n.2053G>A)
c.2134G>A (p.Gly712Ser)
c.1762G>A (p.Gly588Ser)
c.445G>A (p.Gly149Ser)
c.1720G>A (p.Gly574Ser)
c.1051G>A (p.Gly351Ser)
c.916G>A (p.Gly306Ser)
c.1468G>A (p.Gly490Ser)
10g.94594740G>CCA377667851HELLSc.808G>C (p.Gly270Arg)
c.2069G>C (n.2069G>C)
c.2272G>C (p.Gly758Arg)
c.1840G>C (p.Gly614Arg)
c.2086G>C (p.Gly696Arg)
n.2134G>C
c.2178G>C (n.2178G>C)
c.2038G>C (p.Gly680Arg)
c.1744G>C (p.Gly582Arg)
c.1937G>C (n.1937G>C)
c.2053G>C (n.2053G>C)
c.2134G>C (p.Gly712Arg)
c.1762G>C (p.Gly588Arg)
c.445G>C (p.Gly149Arg)
c.1720G>C (p.Gly574Arg)
c.1051G>C (p.Gly351Arg)
c.916G>C (p.Gly306Arg)
c.1468G>C (p.Gly490Arg)
10g.94594740G>TCA377667853HELLSc.808G>T (p.Gly270Cys)
c.2069G>T (n.2069G>T)
c.2272G>T (p.Gly758Cys)
c.1840G>T (p.Gly614Cys)
c.2086G>T (p.Gly696Cys)
n.2134G>T
c.2178G>T (n.2178G>T)
c.2038G>T (p.Gly680Cys)
c.1744G>T (p.Gly582Cys)
c.1937G>T (n.1937G>T)
c.2053G>T (n.2053G>T)
c.2134G>T (p.Gly712Cys)
c.1762G>T (p.Gly588Cys)
c.445G>T (p.Gly149Cys)
c.1720G>T (p.Gly574Cys)
c.1051G>T (p.Gly351Cys)
c.916G>T (p.Gly306Cys)
c.1468G>T (p.Gly490Cys)
10g.94594741G>ACA377667856HELLSc.809G>A (p.Gly270Asp)
c.2070G>A (n.2070G>A)
c.2273G>A (p.Gly758Asp)
c.1841G>A (p.Gly614Asp)
c.2087G>A (p.Gly696Asp)
n.2135G>A
c.2179G>A (n.2179G>A)
c.2039G>A (p.Gly680Asp)
c.1745G>A (p.Gly582Asp)
c.1938G>A (n.1938G>A)
c.2054G>A (n.2054G>A)
c.2135G>A (p.Gly712Asp)
c.1763G>A (p.Gly588Asp)
c.446G>A (p.Gly149Asp)
c.1721G>A (p.Gly574Asp)
c.1052G>A (p.Gly351Asp)
c.917G>A (p.Gly306Asp)
c.1469G>A (p.Gly490Asp)
10g.94594741G>CCA377667858HELLSc.809G>C (p.Gly270Ala)
c.2070G>C (n.2070G>C)
c.2273G>C (p.Gly758Ala)
c.1841G>C (p.Gly614Ala)
c.2087G>C (p.Gly696Ala)
n.2135G>C
c.2179G>C (n.2179G>C)
c.2039G>C (p.Gly680Ala)
c.1745G>C (p.Gly582Ala)
c.1938G>C (n.1938G>C)
c.2054G>C (n.2054G>C)
c.2135G>C (p.Gly712Ala)
c.1763G>C (p.Gly588Ala)
c.446G>C (p.Gly149Ala)
c.1721G>C (p.Gly574Ala)
c.1052G>C (p.Gly351Ala)
c.917G>C (p.Gly306Ala)
c.1469G>C (p.Gly490Ala)
10g.94594741G>TCA377667859HELLSc.809G>T (p.Gly270Val)
c.2070G>T (n.2070G>T)
c.2273G>T (p.Gly758Val)
c.1841G>T (p.Gly614Val)
c.2087G>T (p.Gly696Val)
n.2135G>T
c.2179G>T (n.2179G>T)
c.2039G>T (p.Gly680Val)
c.1745G>T (p.Gly582Val)
c.1938G>T (n.1938G>T)
c.2054G>T (n.2054G>T)
c.2135G>T (p.Gly712Val)
c.1763G>T (p.Gly588Val)
c.446G>T (p.Gly149Val)
c.1721G>T (p.Gly574Val)
c.1052G>T (p.Gly351Val)
c.917G>T (p.Gly306Val)
c.1469G>T (p.Gly490Val)
10g.94594742T>ACA470822487HELLSc.810T>A (p.Gly270=)
c.2071T>A (n.2071T>A)
c.2274T>A (p.Gly758=)
c.1842T>A (p.Gly614=)
c.2088T>A (p.Gly696=)
n.2136T>A
c.2180T>A (n.2180T>A)
c.2040T>A (p.Gly680=)
c.1746T>A (p.Gly582=)
c.1939T>A (n.1939T>A)
c.2055T>A (n.2055T>A)
c.2136T>A (p.Gly712=)
c.1764T>A (p.Gly588=)
c.447T>A (p.Gly149=)
c.1722T>A (p.Gly574=)
c.1053T>A (p.Gly351=)
c.918T>A (p.Gly306=)
c.1470T>A (p.Gly490=)
10g.94594742T>CCA470822485HELLSc.810T>C (p.Gly270=)
c.2071T>C (n.2071T>C)
c.2274T>C (p.Gly758=)
c.1842T>C (p.Gly614=)
c.2088T>C (p.Gly696=)
n.2136T>C
c.2180T>C (n.2180T>C)
c.2040T>C (p.Gly680=)
c.1746T>C (p.Gly582=)
c.1939T>C (n.1939T>C)
c.2055T>C (n.2055T>C)
c.2136T>C (p.Gly712=)
c.1764T>C (p.Gly588=)
c.447T>C (p.Gly149=)
c.1722T>C (p.Gly574=)
c.1053T>C (p.Gly351=)
c.918T>C (p.Gly306=)
c.1470T>C (p.Gly490=)
10g.94594742T>GCA470822486HELLSc.810T>G (p.Gly270=)
c.2071T>G (n.2071T>G)
c.2274T>G (p.Gly758=)
c.1842T>G (p.Gly614=)
c.2088T>G (p.Gly696=)
n.2136T>G
c.2180T>G (n.2180T>G)
c.2040T>G (p.Gly680=)
c.1746T>G (p.Gly582=)
c.1939T>G (n.1939T>G)
c.2055T>G (n.2055T>G)
c.2136T>G (p.Gly712=)
c.1764T>G (p.Gly588=)
c.447T>G (p.Gly149=)
c.1722T>G (p.Gly574=)
c.1053T>G (p.Gly351=)
c.918T>G (p.Gly306=)
c.1470T>G (p.Gly490=)
10g.94594743C>ACA377667862HELLSc.811C>A (p.Gln271Lys)
c.2072C>A (n.2072C>A)
c.2275C>A (p.Gln759Lys)
c.1843C>A (p.Gln615Lys)
c.2089C>A (p.Gln697Lys)
n.2137C>A
c.2181C>A (n.2181C>A)
c.2041C>A (p.Gln681Lys)
c.1747C>A (p.Gln583Lys)
c.1940C>A (n.1940C>A)
c.2056C>A (n.2056C>A)
c.2137C>A (p.Gln713Lys)
c.1765C>A (p.Gln589Lys)
c.448C>A (p.Gln150Lys)
c.1723C>A (p.Gln575Lys)
c.1054C>A (p.Gln352Lys)
c.919C>A (p.Gln307Lys)
c.1471C>A (p.Gln491Lys)
10g.94594743C>GCA377667864HELLSc.811C>G (p.Gln271Glu)
c.2072C>G (n.2072C>G)
c.2275C>G (p.Gln759Glu)
c.1843C>G (p.Gln615Glu)
c.2089C>G (p.Gln697Glu)
n.2137C>G
c.2181C>G (n.2181C>G)
c.2041C>G (p.Gln681Glu)
c.1747C>G (p.Gln583Glu)
c.1940C>G (n.1940C>G)
c.2056C>G (n.2056C>G)
c.2137C>G (p.Gln713Glu)
c.1765C>G (p.Gln589Glu)
c.448C>G (p.Gln150Glu)
c.1723C>G (p.Gln575Glu)
c.1054C>G (p.Gln352Glu)
c.919C>G (p.Gln307Glu)
c.1471C>G (p.Gln491Glu)
10g.94594743C>TCA377667866HELLSc.811C>T (p.Gln271Ter)
c.2072C>T (n.2072C>T)
c.2275C>T (p.Gln759Ter)
c.1843C>T (p.Gln615Ter)
c.2089C>T (p.Gln697Ter)
n.2137C>T
c.2181C>T (n.2181C>T)
c.2041C>T (p.Gln681Ter)
c.1747C>T (p.Gln583Ter)
c.1940C>T (n.1940C>T)
c.2056C>T (n.2056C>T)
c.2137C>T (p.Gln713Ter)
c.1765C>T (p.Gln589Ter)
c.448C>T (p.Gln150Ter)
c.1723C>T (p.Gln575Ter)
c.1054C>T (p.Gln352Ter)
c.919C>T (p.Gln307Ter)
c.1471C>T (p.Gln491Ter)
10g.94594744A>CCA377667869HELLSc.812A>C (p.Gln271Pro)
c.2073A>C (n.2073A>C)
c.2276A>C (p.Gln759Pro)
c.1844A>C (p.Gln615Pro)
c.2090A>C (p.Gln697Pro)
n.2138A>C
c.2182A>C (n.2182A>C)
c.2042A>C (p.Gln681Pro)
c.1748A>C (p.Gln583Pro)
c.1941A>C (n.1941A>C)
c.2057A>C (n.2057A>C)
c.2138A>C (p.Gln713Pro)
c.1766A>C (p.Gln589Pro)
c.449A>C (p.Gln150Pro)
c.1724A>C (p.Gln575Pro)
c.1055A>C (p.Gln352Pro)
c.920A>C (p.Gln307Pro)
c.1472A>C (p.Gln491Pro)
10g.94594744A>GCA377667871HELLSc.812A>G (p.Gln271Arg)
c.2073A>G (n.2073A>G)
c.2276A>G (p.Gln759Arg)
c.1844A>G (p.Gln615Arg)
c.2090A>G (p.Gln697Arg)
n.2138A>G
c.2182A>G (n.2182A>G)
c.2042A>G (p.Gln681Arg)
c.1748A>G (p.Gln583Arg)
c.1941A>G (n.1941A>G)
c.2057A>G (n.2057A>G)
c.2138A>G (p.Gln713Arg)
c.1766A>G (p.Gln589Arg)
c.449A>G (p.Gln150Arg)
c.1724A>G (p.Gln575Arg)
c.1055A>G (p.Gln352Arg)
c.920A>G (p.Gln307Arg)
c.1472A>G (p.Gln491Arg)
10g.94594744A>TCA377667872HELLSc.812A>T (p.Gln271Leu)
c.2073A>T (n.2073A>T)
c.2276A>T (p.Gln759Leu)
c.1844A>T (p.Gln615Leu)
c.2090A>T (p.Gln697Leu)
n.2138A>T
c.2182A>T (n.2182A>T)
c.2042A>T (p.Gln681Leu)
c.1748A>T (p.Gln583Leu)
c.1941A>T (n.1941A>T)
c.2057A>T (n.2057A>T)
c.2138A>T (p.Gln713Leu)
c.1766A>T (p.Gln589Leu)
c.449A>T (p.Gln150Leu)
c.1724A>T (p.Gln575Leu)
c.1055A>T (p.Gln352Leu)
c.920A>T (p.Gln307Leu)
c.1472A>T (p.Gln491Leu)
10g.94594745G>ACA470822491HELLSc.813G>A (p.Gln271=)
c.2074G>A (n.2074G>A)
c.2277G>A (p.Gln759=)
c.1845G>A (p.Gln615=)
c.2091G>A (p.Gln697=)
n.2139G>A
c.2183G>A (n.2183G>A)
c.2043G>A (p.Gln681=)
c.1749G>A (p.Gln583=)
c.1942G>A (n.1942G>A)
c.2058G>A (n.2058G>A)
c.2139G>A (p.Gln713=)
c.1767G>A (p.Gln589=)
c.450G>A (p.Gln150=)
c.1725G>A (p.Gln575=)
c.1056G>A (p.Gln352=)
c.921G>A (p.Gln307=)
c.1473G>A (p.Gln491=)
10g.94594745G>CCA377667877HELLSc.813G>C (p.Gln271His)
c.2074G>C (n.2074G>C)
c.2277G>C (p.Gln759His)
c.1845G>C (p.Gln615His)
c.2091G>C (p.Gln697His)
n.2139G>C
c.2183G>C (n.2183G>C)
c.2043G>C (p.Gln681His)
c.1749G>C (p.Gln583His)
c.1942G>C (n.1942G>C)
c.2058G>C (n.2058G>C)
c.2139G>C (p.Gln713His)
c.1767G>C (p.Gln589His)
c.450G>C (p.Gln150His)
c.1725G>C (p.Gln575His)
c.1056G>C (p.Gln352His)
c.921G>C (p.Gln307His)
c.1473G>C (p.Gln491His)
10g.94594745G>TCA377667875HELLSc.813G>T (p.Gln271His)
c.2074G>T (n.2074G>T)
c.2277G>T (p.Gln759His)
c.1845G>T (p.Gln615His)
c.2091G>T (p.Gln697His)
n.2139G>T
c.2183G>T (n.2183G>T)
c.2043G>T (p.Gln681His)
c.1749G>T (p.Gln583His)
c.1942G>T (n.1942G>T)
c.2058G>T (n.2058G>T)
c.2139G>T (p.Gln713His)
c.1767G>T (p.Gln589His)
c.450G>T (p.Gln150His)
c.1725G>T (p.Gln575His)
c.1056G>T (p.Gln352His)
c.921G>T (p.Gln307His)
c.1473G>T (p.Gln491His)
10g.94594746A>CCA377667880HELLSc.814A>C (p.Thr272Pro)
c.2075A>C (n.2075A>C)
c.2278A>C (p.Thr760Pro)
c.1846A>C (p.Thr616Pro)
c.2092A>C (p.Thr698Pro)
n.2140A>C
c.2184A>C (n.2184A>C)
c.2044A>C (p.Thr682Pro)
c.1750A>C (p.Thr584Pro)
c.1943A>C (n.1943A>C)
c.2059A>C (n.2059A>C)
c.2140A>C (p.Thr714Pro)
c.1768A>C (p.Thr590Pro)
c.451A>C (p.Thr151Pro)
c.1726A>C (p.Thr576Pro)
c.1057A>C (p.Thr353Pro)
c.922A>C (p.Thr308Pro)
c.1474A>C (p.Thr492Pro)
10g.94594746A>GCA377667882HELLSc.814A>G (p.Thr272Ala)
c.2075A>G (n.2075A>G)
c.2278A>G (p.Thr760Ala)
c.1846A>G (p.Thr616Ala)
c.2092A>G (p.Thr698Ala)
n.2140A>G
c.2184A>G (n.2184A>G)
c.2044A>G (p.Thr682Ala)
c.1750A>G (p.Thr584Ala)
c.1943A>G (n.1943A>G)
c.2059A>G (n.2059A>G)
c.2140A>G (p.Thr714Ala)
c.1768A>G (p.Thr590Ala)
c.451A>G (p.Thr151Ala)
c.1726A>G (p.Thr576Ala)
c.1057A>G (p.Thr353Ala)
c.922A>G (p.Thr308Ala)
c.1474A>G (p.Thr492Ala)
10g.94594746A>TCA377667884HELLSc.814A>T (p.Thr272Ser)
c.2075A>T (n.2075A>T)
c.2278A>T (p.Thr760Ser)
c.1846A>T (p.Thr616Ser)
c.2092A>T (p.Thr698Ser)
n.2140A>T
c.2184A>T (n.2184A>T)
c.2044A>T (p.Thr682Ser)
c.1750A>T (p.Thr584Ser)
c.1943A>T (n.1943A>T)
c.2059A>T (n.2059A>T)
c.2140A>T (p.Thr714Ser)
c.1768A>T (p.Thr590Ser)
c.451A>T (p.Thr151Ser)
c.1726A>T (p.Thr576Ser)
c.1057A>T (p.Thr353Ser)
c.922A>T (p.Thr308Ser)
c.1474A>T (p.Thr492Ser)
10g.94594747C>ACA377667887HELLSc.815C>A (p.Thr272Lys)
c.2076C>A (n.2076C>A)
c.2279C>A (p.Thr760Lys)
c.1847C>A (p.Thr616Lys)
c.2093C>A (p.Thr698Lys)
n.2141C>A
c.2185C>A (n.2185C>A)
c.2045C>A (p.Thr682Lys)
c.1751C>A (p.Thr584Lys)
c.1944C>A (n.1944C>A)
c.2060C>A (n.2060C>A)
c.2141C>A (p.Thr714Lys)
c.1769C>A (p.Thr590Lys)
c.452C>A (p.Thr151Lys)
c.1727C>A (p.Thr576Lys)
c.1058C>A (p.Thr353Lys)
c.923C>A (p.Thr308Lys)
c.1475C>A (p.Thr492Lys)
10g.94594747C>GCA377667889HELLSc.815C>G (p.Thr272Arg)
c.2076C>G (n.2076C>G)
c.2279C>G (p.Thr760Arg)
c.1847C>G (p.Thr616Arg)
c.2093C>G (p.Thr698Arg)
n.2141C>G
c.2185C>G (n.2185C>G)
c.2045C>G (p.Thr682Arg)
c.1751C>G (p.Thr584Arg)
c.1944C>G (n.1944C>G)
c.2060C>G (n.2060C>G)
c.2141C>G (p.Thr714Arg)
c.1769C>G (p.Thr590Arg)
c.452C>G (p.Thr151Arg)
c.1727C>G (p.Thr576Arg)
c.1058C>G (p.Thr353Arg)
c.923C>G (p.Thr308Arg)
c.1475C>G (p.Thr492Arg)
10g.94594747C>TCA377667891HELLSc.815C>T (p.Thr272Ile)
c.2076C>T (n.2076C>T)
c.2279C>T (p.Thr760Ile)
c.1847C>T (p.Thr616Ile)
c.2093C>T (p.Thr698Ile)
n.2141C>T
c.2185C>T (n.2185C>T)
c.2045C>T (p.Thr682Ile)
c.1751C>T (p.Thr584Ile)
c.1944C>T (n.1944C>T)
c.2060C>T (n.2060C>T)
c.2141C>T (p.Thr714Ile)
c.1769C>T (p.Thr590Ile)
c.452C>T (p.Thr151Ile)
c.1727C>T (p.Thr576Ile)
c.1058C>T (p.Thr353Ile)
c.923C>T (p.Thr308Ile)
c.1475C>T (p.Thr492Ile)
10g.94594748A=CA1929136084HELLSc.816A= (p.Thr272=)
c.2077A= (n.2077A=)
c.2280A= (p.Thr760=)
c.1848A= (p.Thr616=)
c.2094A= (p.Thr698=)
n.2142A=
c.2186A= (n.2186A=)
c.2046A= (p.Thr682=)
c.1752A= (p.Thr584=)
c.1945A= (n.1945A=)
c.2061A= (n.2061A=)
c.2142A= (p.Thr714=)
c.1770A= (p.Thr590=)
c.453A= (p.Thr151=)
c.1728A= (p.Thr576=)
c.1059A= (p.Thr353=)
c.924A= (p.Thr308=)
c.1476A= (p.Thr492=)
10g.94594748A>CCA470822492HELLSc.816A>C (p.Thr272=)
c.2077A>C (n.2077A>C)
c.2280A>C (p.Thr760=)
c.1848A>C (p.Thr616=)
c.2094A>C (p.Thr698=)
n.2142A>C
c.2186A>C (n.2186A>C)
c.2046A>C (p.Thr682=)
c.1752A>C (p.Thr584=)
c.1945A>C (n.1945A>C)
c.2061A>C (n.2061A>C)
c.2142A>C (p.Thr714=)
c.1770A>C (p.Thr590=)
c.453A>C (p.Thr151=)
c.1728A>C (p.Thr576=)
c.1059A>C (p.Thr353=)
c.924A>C (p.Thr308=)
c.1476A>C (p.Thr492=)
10g.94594748A>GCA470822493HELLSc.816A>G (p.Thr272=)
c.2077A>G (n.2077A>G)
c.2280A>G (p.Thr760=)
c.1848A>G (p.Thr616=)
c.2094A>G (p.Thr698=)
n.2142A>G
c.2186A>G (n.2186A>G)
c.2046A>G (p.Thr682=)
c.1752A>G (p.Thr584=)
c.1945A>G (n.1945A>G)
c.2061A>G (n.2061A>G)
c.2142A>G (p.Thr714=)
c.1770A>G (p.Thr590=)
c.453A>G (p.Thr151=)
c.1728A>G (p.Thr576=)
c.1059A>G (p.Thr353=)
c.924A>G (p.Thr308=)
c.1476A>G (p.Thr492=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.94594748A>TCA470822494HELLSc.816A>T (p.Thr272=)
c.2077A>T (n.2077A>T)
c.2280A>T (p.Thr760=)
c.1848A>T (p.Thr616=)
c.2094A>T (p.Thr698=)
n.2142A>T
c.2186A>T (n.2186A>T)
c.2046A>T (p.Thr682=)
c.1752A>T (p.Thr584=)
c.1945A>T (n.1945A>T)
c.2061A>T (n.2061A>T)
c.2142A>T (p.Thr714=)
c.1770A>T (p.Thr590=)
c.453A>T (p.Thr151=)
c.1728A>T (p.Thr576=)
c.1059A>T (p.Thr353=)
c.924A>T (p.Thr308=)
c.1476A>T (p.Thr492=)
10g.94594749A=CA1929136085HELLSc.817A= (p.Lys273=)
c.2078A= (n.2078A=)
c.2281A= (p.Lys761=)
c.1849A= (p.Lys617=)
c.2095A= (p.Lys699=)
n.2143A=
c.2187A= (n.2187A=)
c.2047A= (p.Lys683=)
c.1753A= (p.Lys585=)
c.1946A= (n.1946A=)
c.2062A= (n.2062A=)
c.2143A= (p.Lys715=)
c.1771A= (p.Lys591=)
c.454A= (p.Lys152=)
c.1729A= (p.Lys577=)
c.1060A= (p.Lys354=)
c.925A= (p.Lys309=)
c.1477A= (p.Lys493=)
10g.94594749A>CCA377667896HELLSc.817A>C (p.Lys273Gln)
c.2078A>C (n.2078A>C)
c.2281A>C (p.Lys761Gln)
c.1849A>C (p.Lys617Gln)
c.2095A>C (p.Lys699Gln)
n.2143A>C
c.2187A>C (n.2187A>C)
c.2047A>C (p.Lys683Gln)
c.1753A>C (p.Lys585Gln)
c.1946A>C (n.1946A>C)
c.2062A>C (n.2062A>C)
c.2143A>C (p.Lys715Gln)
c.1771A>C (p.Lys591Gln)
c.454A>C (p.Lys152Gln)
c.1729A>C (p.Lys577Gln)
c.1060A>C (p.Lys354Gln)
c.925A>C (p.Lys309Gln)
c.1477A>C (p.Lys493Gln)
10g.94594749A>GCA5615660HELLSc.817A>G (p.Lys273Glu)
c.2078A>G (n.2078A>G)
c.2281A>G (p.Lys761Glu)
c.1849A>G (p.Lys617Glu)
c.2095A>G (p.Lys699Glu)
n.2143A>G
c.2187A>G (n.2187A>G)
c.2047A>G (p.Lys683Glu)
c.1753A>G (p.Lys585Glu)
c.1946A>G (n.1946A>G)
c.2062A>G (n.2062A>G)
c.2143A>G (p.Lys715Glu)
c.1771A>G (p.Lys591Glu)
c.454A>G (p.Lys152Glu)
c.1729A>G (p.Lys577Glu)
c.1060A>G (p.Lys354Glu)
c.925A>G (p.Lys309Glu)
c.1477A>G (p.Lys493Glu)
 dbSNP ExAC gnomAD v2
10g.94594749A>TCA377667894HELLSc.817A>T (p.Lys273Ter)
c.2078A>T (n.2078A>T)
c.2281A>T (p.Lys761Ter)
c.1849A>T (p.Lys617Ter)
c.2095A>T (p.Lys699Ter)
n.2143A>T
c.2187A>T (n.2187A>T)
c.2047A>T (p.Lys683Ter)
c.1753A>T (p.Lys585Ter)
c.1946A>T (n.1946A>T)
c.2062A>T (n.2062A>T)
c.2143A>T (p.Lys715Ter)
c.1771A>T (p.Lys591Ter)
c.454A>T (p.Lys152Ter)
c.1729A>T (p.Lys577Ter)
c.1060A>T (p.Lys354Ter)
c.925A>T (p.Lys309Ter)
c.1477A>T (p.Lys493Ter)
10g.94594750A=CA1929136086HELLSc.818A= (p.Lys273=)
c.2079A= (n.2079A=)
c.2282A= (p.Lys761=)
c.1850A= (p.Lys617=)
c.2096A= (p.Lys699=)
n.2144A=
c.2188A= (n.2188A=)
c.2048A= (p.Lys683=)
c.1754A= (p.Lys585=)
c.1947A= (n.1947A=)
c.2063A= (n.2063A=)
c.2144A= (p.Lys715=)
c.1772A= (p.Lys591=)
c.455A= (p.Lys152=)
c.1730A= (p.Lys577=)
c.1061A= (p.Lys354=)
c.926A= (p.Lys309=)
c.1478A= (p.Lys493=)
10g.94594750A>CCA377667899HELLSc.818A>C (p.Lys273Thr)
c.2079A>C (n.2079A>C)
c.2282A>C (p.Lys761Thr)
c.1850A>C (p.Lys617Thr)
c.2096A>C (p.Lys699Thr)
n.2144A>C
c.2188A>C (n.2188A>C)
c.2048A>C (p.Lys683Thr)
c.1754A>C (p.Lys585Thr)
c.1947A>C (n.1947A>C)
c.2063A>C (n.2063A>C)
c.2144A>C (p.Lys715Thr)
c.1772A>C (p.Lys591Thr)
c.455A>C (p.Lys152Thr)
c.1730A>C (p.Lys577Thr)
c.1061A>C (p.Lys354Thr)
c.926A>C (p.Lys309Thr)
c.1478A>C (p.Lys493Thr)
10g.94594750A>GCA377667902HELLSc.818A>G (p.Lys273Arg)
c.2079A>G (n.2079A>G)
c.2282A>G (p.Lys761Arg)
c.1850A>G (p.Lys617Arg)
c.2096A>G (p.Lys699Arg)
n.2144A>G
c.2188A>G (n.2188A>G)
c.2048A>G (p.Lys683Arg)
c.1754A>G (p.Lys585Arg)
c.1947A>G (n.1947A>G)
c.2063A>G (n.2063A>G)
c.2144A>G (p.Lys715Arg)
c.1772A>G (p.Lys591Arg)
c.455A>G (p.Lys152Arg)
c.1730A>G (p.Lys577Arg)
c.1061A>G (p.Lys354Arg)
c.926A>G (p.Lys309Arg)
c.1478A>G (p.Lys493Arg)
10g.94594750A>TCA377667904HELLSc.818A>T (p.Lys273Met)
c.2079A>T (n.2079A>T)
c.2282A>T (p.Lys761Met)
c.1850A>T (p.Lys617Met)
c.2096A>T (p.Lys699Met)
n.2144A>T
c.2188A>T (n.2188A>T)
c.2048A>T (p.Lys683Met)
c.1754A>T (p.Lys585Met)
c.1947A>T (n.1947A>T)
c.2063A>T (n.2063A>T)
c.2144A>T (p.Lys715Met)
c.1772A>T (p.Lys591Met)
c.455A>T (p.Lys152Met)
c.1730A>T (p.Lys577Met)
c.1061A>T (p.Lys354Met)
c.926A>T (p.Lys309Met)
c.1478A>T (p.Lys493Met)
 dbSNP gnomAD v2 gnomAD v4
10g.94594751G>ACA470822496HELLSc.819G>A (p.Lys273=)
c.2080G>A (n.2080G>A)
c.2283G>A (p.Lys761=)
c.1851G>A (p.Lys617=)
c.2097G>A (p.Lys699=)
n.2145G>A
c.2189G>A (n.2189G>A)
c.2049G>A (p.Lys683=)
c.1755G>A (p.Lys585=)
c.1948G>A (n.1948G>A)
c.2064G>A (n.2064G>A)
c.2145G>A (p.Lys715=)
c.1773G>A (p.Lys591=)
c.456G>A (p.Lys152=)
c.1731G>A (p.Lys577=)
c.1062G>A (p.Lys354=)
c.927G>A (p.Lys309=)
c.1479G>A (p.Lys493=)
10g.94594751G>CCA377667905HELLSc.819G>C (p.Lys273Asn)
c.2080G>C (n.2080G>C)
c.2283G>C (p.Lys761Asn)
c.1851G>C (p.Lys617Asn)
c.2097G>C (p.Lys699Asn)
n.2145G>C
c.2189G>C (n.2189G>C)
c.2049G>C (p.Lys683Asn)
c.1755G>C (p.Lys585Asn)
c.1948G>C (n.1948G>C)
c.2064G>C (n.2064G>C)
c.2145G>C (p.Lys715Asn)
c.1773G>C (p.Lys591Asn)
c.456G>C (p.Lys152Asn)
c.1731G>C (p.Lys577Asn)
c.1062G>C (p.Lys354Asn)
c.927G>C (p.Lys309Asn)
c.1479G>C (p.Lys493Asn)
10g.94594751G>TCA377667907HELLSc.819G>T (p.Lys273Asn)
c.2080G>T (n.2080G>T)
c.2283G>T (p.Lys761Asn)
c.1851G>T (p.Lys617Asn)
c.2097G>T (p.Lys699Asn)
n.2145G>T
c.2189G>T (n.2189G>T)
c.2049G>T (p.Lys683Asn)
c.1755G>T (p.Lys585Asn)
c.1948G>T (n.1948G>T)
c.2064G>T (n.2064G>T)
c.2145G>T (p.Lys715Asn)
c.1773G>T (p.Lys591Asn)
c.456G>T (p.Lys152Asn)
c.1731G>T (p.Lys577Asn)
c.1062G>T (p.Lys354Asn)
c.927G>T (p.Lys309Asn)
c.1479G>T (p.Lys493Asn)
10g.94594752C>ACA377667914HELLSc.820C>A (p.Pro274Thr)
c.2081C>A (n.2081C>A)
c.2284C>A (p.Pro762Thr)
c.1852C>A (p.Pro618Thr)
c.2098C>A (p.Pro700Thr)
n.2146C>A
c.2190C>A (n.2190C>A)
c.2050C>A (p.Pro684Thr)
c.1756C>A (p.Pro586Thr)
c.1949C>A (n.1949C>A)
c.2065C>A (n.2065C>A)
c.2146C>A (p.Pro716Thr)
c.1774C>A (p.Pro592Thr)
c.457C>A (p.Pro153Thr)
c.1732C>A (p.Pro578Thr)
c.1063C>A (p.Pro355Thr)
c.928C>A (p.Pro310Thr)
c.1480C>A (p.Pro494Thr)
10g.94594752C=CA1929136087HELLSc.820C= (p.Pro274=)
c.2081C= (n.2081C=)
c.2284C= (p.Pro762=)
c.1852C= (p.Pro618=)
c.2098C= (p.Pro700=)
n.2146C=
c.2190C= (n.2190C=)
c.2050C= (p.Pro684=)
c.1756C= (p.Pro586=)
c.1949C= (n.1949C=)
c.2065C= (n.2065C=)
c.2146C= (p.Pro716=)
c.1774C= (p.Pro592=)
c.457C= (p.Pro153=)
c.1732C= (p.Pro578=)
c.1063C= (p.Pro355=)
c.928C= (p.Pro310=)
c.1480C= (p.Pro494=)
10g.94594752C>GCA377667910HELLSc.820C>G (p.Pro274Ala)
c.2081C>G (n.2081C>G)
c.2284C>G (p.Pro762Ala)
c.1852C>G (p.Pro618Ala)
c.2098C>G (p.Pro700Ala)
n.2146C>G
c.2190C>G (n.2190C>G)
c.2050C>G (p.Pro684Ala)
c.1756C>G (p.Pro586Ala)
c.1949C>G (n.1949C>G)
c.2065C>G (n.2065C>G)
c.2146C>G (p.Pro716Ala)
c.1774C>G (p.Pro592Ala)
c.457C>G (p.Pro153Ala)
c.1732C>G (p.Pro578Ala)
c.1063C>G (p.Pro355Ala)
c.928C>G (p.Pro310Ala)
c.1480C>G (p.Pro494Ala)
10g.94594752C>TCA377667912HELLSc.820C>T (p.Pro274Ser)
c.2081C>T (n.2081C>T)
c.2284C>T (p.Pro762Ser)
c.1852C>T (p.Pro618Ser)
c.2098C>T (p.Pro700Ser)
n.2146C>T
c.2190C>T (n.2190C>T)
c.2050C>T (p.Pro684Ser)
c.1756C>T (p.Pro586Ser)
c.1949C>T (n.1949C>T)
c.2065C>T (n.2065C>T)
c.2146C>T (p.Pro716Ser)
c.1774C>T (p.Pro592Ser)
c.457C>T (p.Pro153Ser)
c.1732C>T (p.Pro578Ser)
c.1063C>T (p.Pro355Ser)
c.928C>T (p.Pro310Ser)
c.1480C>T (p.Pro494Ser)
 dbSNP COSMIC
10g.94594753C>ACA377667916HELLSc.821C>A (p.Pro274Gln)
c.2082C>A (n.2082C>A)
c.2285C>A (p.Pro762Gln)
c.1853C>A (p.Pro618Gln)
c.2099C>A (p.Pro700Gln)
n.2147C>A
c.2191C>A (n.2191C>A)
c.2051C>A (p.Pro684Gln)
c.1757C>A (p.Pro586Gln)
c.1950C>A (n.1950C>A)
c.2066C>A (n.2066C>A)
c.2147C>A (p.Pro716Gln)
c.1775C>A (p.Pro592Gln)
c.458C>A (p.Pro153Gln)
c.1733C>A (p.Pro578Gln)
c.1064C>A (p.Pro355Gln)
c.929C>A (p.Pro310Gln)
c.1481C>A (p.Pro494Gln)
10g.94594753C>GCA377667917HELLSc.821C>G (p.Pro274Arg)
c.2082C>G (n.2082C>G)
c.2285C>G (p.Pro762Arg)
c.1853C>G (p.Pro618Arg)
c.2099C>G (p.Pro700Arg)
n.2147C>G
c.2191C>G (n.2191C>G)
c.2051C>G (p.Pro684Arg)
c.1757C>G (p.Pro586Arg)
c.1950C>G (n.1950C>G)
c.2066C>G (n.2066C>G)
c.2147C>G (p.Pro716Arg)
c.1775C>G (p.Pro592Arg)
c.458C>G (p.Pro153Arg)
c.1733C>G (p.Pro578Arg)
c.1064C>G (p.Pro355Arg)
c.929C>G (p.Pro310Arg)
c.1481C>G (p.Pro494Arg)
10g.94594753C>TCA377667919HELLSc.821C>T (p.Pro274Leu)
c.2082C>T (n.2082C>T)
c.2285C>T (p.Pro762Leu)
c.1853C>T (p.Pro618Leu)
c.2099C>T (p.Pro700Leu)
n.2147C>T
c.2191C>T (n.2191C>T)
c.2051C>T (p.Pro684Leu)
c.1757C>T (p.Pro586Leu)
c.1950C>T (n.1950C>T)
c.2066C>T (n.2066C>T)
c.2147C>T (p.Pro716Leu)
c.1775C>T (p.Pro592Leu)
c.458C>T (p.Pro153Leu)
c.1733C>T (p.Pro578Leu)
c.1064C>T (p.Pro355Leu)
c.929C>T (p.Pro310Leu)
c.1481C>T (p.Pro494Leu)
10g.94594754A=CA1929136088HELLSc.822A= (p.Pro274=)
c.2083A= (n.2083A=)
c.2286A= (p.Pro762=)
c.1854A= (p.Pro618=)
c.2100A= (p.Pro700=)
n.2148A=
c.2192A= (n.2192A=)
c.2052A= (p.Pro684=)
c.1758A= (p.Pro586=)
c.1951A= (n.1951A=)
c.2067A= (n.2067A=)
c.2148A= (p.Pro716=)
c.1776A= (p.Pro592=)
c.459A= (p.Pro153=)
c.1734A= (p.Pro578=)
c.1065A= (p.Pro355=)
c.930A= (p.Pro310=)
c.1482A= (p.Pro494=)
10g.94594754A>CCA470822497HELLSc.822A>C (p.Pro274=)
c.2083A>C (n.2083A>C)
c.2286A>C (p.Pro762=)
c.1854A>C (p.Pro618=)
c.2100A>C (p.Pro700=)
n.2148A>C
c.2192A>C (n.2192A>C)
c.2052A>C (p.Pro684=)
c.1758A>C (p.Pro586=)
c.1951A>C (n.1951A>C)
c.2067A>C (n.2067A>C)
c.2148A>C (p.Pro716=)
c.1776A>C (p.Pro592=)
c.459A>C (p.Pro153=)
c.1734A>C (p.Pro578=)
c.1065A>C (p.Pro355=)
c.930A>C (p.Pro310=)
c.1482A>C (p.Pro494=)
10g.94594754A>GCA5615661HELLSc.822A>G (p.Pro274=)
c.2083A>G (n.2083A>G)
c.2286A>G (p.Pro762=)
c.1854A>G (p.Pro618=)
c.2100A>G (p.Pro700=)
n.2148A>G
c.2192A>G (n.2192A>G)
c.2052A>G (p.Pro684=)
c.1758A>G (p.Pro586=)
c.1951A>G (n.1951A>G)
c.2067A>G (n.2067A>G)
c.2148A>G (p.Pro716=)
c.1776A>G (p.Pro592=)
c.459A>G (p.Pro153=)
c.1734A>G (p.Pro578=)
c.1065A>G (p.Pro355=)
c.930A>G (p.Pro310=)
c.1482A>G (p.Pro494=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94594754A>TCA470822499HELLSc.822A>T (p.Pro274=)
c.2083A>T (n.2083A>T)
c.2286A>T (p.Pro762=)
c.1854A>T (p.Pro618=)
c.2100A>T (p.Pro700=)
n.2148A>T
c.2192A>T (n.2192A>T)
c.2052A>T (p.Pro684=)
c.1758A>T (p.Pro586=)
c.1951A>T (n.1951A>T)
c.2067A>T (n.2067A>T)
c.2148A>T (p.Pro716=)
c.1776A>T (p.Pro592=)
c.459A>T (p.Pro153=)
c.1734A>T (p.Pro578=)
c.1065A>T (p.Pro355=)
c.930A>T (p.Pro310=)
c.1482A>T (p.Pro494=)
10g.94594754_94594757delinsAGTTCA1929136089HELLSc.822_825delinsAGTT (p.Pro274=)
c.2083_2086delinsAGTT (n.2083_2086delinsAGTT)
c.2286_2289delinsAGTT (p.Pro762=)
c.1854_1857delinsAGTT (p.Pro618=)
c.2100_2103delinsAGTT (p.Pro700=)
n.2148_2151delinsAGTT
c.2192_2195delinsAGTT (n.2192_2195delinsAGTT)
c.2052_2055delinsAGTT (p.Pro684=)
c.1758_1761delinsAGTT (p.Pro586=)
c.1951_1954delinsAGTT (n.1951_1954delinsAGTT)
c.2067_2070delinsAGTT (n.2067_2070delinsAGTT)
c.2148_2151delinsAGTT (p.Pro716=)
c.1776_1779delinsAGTT (p.Pro592=)
c.459_462delinsAGTT (p.Pro153=)
c.1734_1737delinsAGTT (p.Pro578=)
c.1065_1068delinsAGTT (p.Pro355=)
c.930_933delinsAGTT (p.Pro310=)
c.1482_1485delinsAGTT (p.Pro494=)
10g.94594755G>ACA377667924HELLSc.823G>A (p.Val275Ile)
c.2084G>A (n.2084G>A)
c.2287G>A (p.Val763Ile)
c.1855G>A (p.Val619Ile)
c.2101G>A (p.Val701Ile)
n.2149G>A
c.2193G>A (n.2193G>A)
c.2053G>A (p.Val685Ile)
c.1759G>A (p.Val587Ile)
c.1952G>A (n.1952G>A)
c.2068G>A (n.2068G>A)
c.2149G>A (p.Val717Ile)
c.1777G>A (p.Val593Ile)
c.460G>A (p.Val154Ile)
c.1735G>A (p.Val579Ile)
c.1066G>A (p.Val356Ile)
c.931G>A (p.Val311Ile)
c.1483G>A (p.Val495Ile)
10g.94594755G>CCA377667926HELLSc.823G>C (p.Val275Leu)
c.2084G>C (n.2084G>C)
c.2287G>C (p.Val763Leu)
c.1855G>C (p.Val619Leu)
c.2101G>C (p.Val701Leu)
n.2149G>C
c.2193G>C (n.2193G>C)
c.2053G>C (p.Val685Leu)
c.1759G>C (p.Val587Leu)
c.1952G>C (n.1952G>C)
c.2068G>C (n.2068G>C)
c.2149G>C (p.Val717Leu)
c.1777G>C (p.Val593Leu)
c.460G>C (p.Val154Leu)
c.1735G>C (p.Val579Leu)
c.1066G>C (p.Val356Leu)
c.931G>C (p.Val311Leu)
c.1483G>C (p.Val495Leu)
10g.94594755G>TCA377667928HELLSc.823G>T (p.Val275Phe)
c.2084G>T (n.2084G>T)
c.2287G>T (p.Val763Phe)
c.1855G>T (p.Val619Phe)
c.2101G>T (p.Val701Phe)
n.2149G>T
c.2193G>T (n.2193G>T)
c.2053G>T (p.Val685Phe)
c.1759G>T (p.Val587Phe)
c.1952G>T (n.1952G>T)
c.2068G>T (n.2068G>T)
c.2149G>T (p.Val717Phe)
c.1777G>T (p.Val593Phe)
c.460G>T (p.Val154Phe)
c.1735G>T (p.Val579Phe)
c.1066G>T (p.Val356Phe)
c.931G>T (p.Val311Phe)
c.1483G>T (p.Val495Phe)
10g.94594761_94594763delCA1929136090HELLSc.829_831del (p.Val277del)
c.2090_2092del (n.2090_2092del)
c.2293_2295del (p.Val765del)
c.1861_1863del (p.Val621del)
c.2107_2109del (p.Val703del)
n.2155_2157del
c.2199_2201del (n.2199_2201del)
c.2059_2061del (p.Val687del)
c.1765_1767del (p.Val589del)
c.1958_1960del (n.1958_1960del)
c.2074_2076del (n.2074_2076del)
c.2155_2157del (p.Val719del)
c.1783_1785del (p.Val595del)
c.466_468del (p.Val156del)
c.1741_1743del (p.Val581del)
c.1072_1074del (p.Val358del)
c.937_939del (p.Val313del)
c.1489_1491del (p.Val497del)
 dbSNP
10g.94594756T>ACA377667932HELLSc.824T>A (p.Val275Asp)
c.2085T>A (n.2085T>A)
c.2288T>A (p.Val763Asp)
c.1856T>A (p.Val619Asp)
c.2102T>A (p.Val701Asp)
n.2150T>A
c.2194T>A (n.2194T>A)
c.2054T>A (p.Val685Asp)
c.1760T>A (p.Val587Asp)
c.1953T>A (n.1953T>A)
c.2069T>A (n.2069T>A)
c.2150T>A (p.Val717Asp)
c.1778T>A (p.Val593Asp)
c.461T>A (p.Val154Asp)
c.1736T>A (p.Val579Asp)
c.1067T>A (p.Val356Asp)
c.932T>A (p.Val311Asp)
c.1484T>A (p.Val495Asp)
10g.94594756T>CCA377667934HELLSc.824T>C (p.Val275Ala)
c.2085T>C (n.2085T>C)
c.2288T>C (p.Val763Ala)
c.1856T>C (p.Val619Ala)
c.2102T>C (p.Val701Ala)
n.2150T>C
c.2194T>C (n.2194T>C)
c.2054T>C (p.Val685Ala)
c.1760T>C (p.Val587Ala)
c.1953T>C (n.1953T>C)
c.2069T>C (n.2069T>C)
c.2150T>C (p.Val717Ala)
c.1778T>C (p.Val593Ala)
c.461T>C (p.Val154Ala)
c.1736T>C (p.Val579Ala)
c.1067T>C (p.Val356Ala)
c.932T>C (p.Val311Ala)
c.1484T>C (p.Val495Ala)
10g.94594756T>GCA377667936HELLSc.824T>G (p.Val275Gly)
c.2085T>G (n.2085T>G)
c.2288T>G (p.Val763Gly)
c.1856T>G (p.Val619Gly)
c.2102T>G (p.Val701Gly)
n.2150T>G
c.2194T>G (n.2194T>G)
c.2054T>G (p.Val685Gly)
c.1760T>G (p.Val587Gly)
c.1953T>G (n.1953T>G)
c.2069T>G (n.2069T>G)
c.2150T>G (p.Val717Gly)
c.1778T>G (p.Val593Gly)
c.461T>G (p.Val154Gly)
c.1736T>G (p.Val579Gly)
c.1067T>G (p.Val356Gly)
c.932T>G (p.Val311Gly)
c.1484T>G (p.Val495Gly)
10g.94594757T>ACA470822500HELLSc.825T>A (p.Val275=)
c.2086T>A (n.2086T>A)
c.2289T>A (p.Val763=)
c.1857T>A (p.Val619=)
c.2103T>A (p.Val701=)
n.2151T>A
c.2195T>A (n.2195T>A)
c.2055T>A (p.Val685=)
c.1761T>A (p.Val587=)
c.1954T>A (n.1954T>A)
c.2070T>A (n.2070T>A)
c.2151T>A (p.Val717=)
c.1779T>A (p.Val593=)
c.462T>A (p.Val154=)
c.1737T>A (p.Val579=)
c.1068T>A (p.Val356=)
c.933T>A (p.Val311=)
c.1485T>A (p.Val495=)
 gnomAD v4
10g.94594757T>CCA470822501HELLSc.825T>C (p.Val275=)
c.2086T>C (n.2086T>C)
c.2289T>C (p.Val763=)
c.1857T>C (p.Val619=)
c.2103T>C (p.Val701=)
n.2151T>C
c.2195T>C (n.2195T>C)
c.2055T>C (p.Val685=)
c.1761T>C (p.Val587=)
c.1954T>C (n.1954T>C)
c.2070T>C (n.2070T>C)
c.2151T>C (p.Val717=)
c.1779T>C (p.Val593=)
c.462T>C (p.Val154=)
c.1737T>C (p.Val579=)
c.1068T>C (p.Val356=)
c.933T>C (p.Val311=)
c.1485T>C (p.Val495=)
10g.94594757T>GCA470822502HELLSc.825T>G (p.Val275=)
c.2086T>G (n.2086T>G)
c.2289T>G (p.Val763=)
c.1857T>G (p.Val619=)
c.2103T>G (p.Val701=)
n.2151T>G
c.2195T>G (n.2195T>G)
c.2055T>G (p.Val685=)
c.1761T>G (p.Val587=)
c.1954T>G (n.1954T>G)
c.2070T>G (n.2070T>G)
c.2151T>G (p.Val717=)
c.1779T>G (p.Val593=)
c.462T>G (p.Val154=)
c.1737T>G (p.Val579=)
c.1068T>G (p.Val356=)
c.933T>G (p.Val311=)
c.1485T>G (p.Val495=)
10g.94594758G>ACA377667939HELLSc.826G>A (p.Val276Ile)
c.2087G>A (n.2087G>A)
c.2290G>A (p.Val764Ile)
c.1858G>A (p.Val620Ile)
c.2104G>A (p.Val702Ile)
n.2152G>A
c.2196G>A (n.2196G>A)
c.2056G>A (p.Val686Ile)
c.1762G>A (p.Val588Ile)
c.1955G>A (n.1955G>A)
c.2071G>A (n.2071G>A)
c.2152G>A (p.Val718Ile)
c.1780G>A (p.Val594Ile)
c.463G>A (p.Val155Ile)
c.1738G>A (p.Val580Ile)
c.1069G>A (p.Val357Ile)
c.934G>A (p.Val312Ile)
c.1486G>A (p.Val496Ile)
10g.94594758G>CCA377667940HELLSc.826G>C (p.Val276Leu)
c.2087G>C (n.2087G>C)
c.2290G>C (p.Val764Leu)
c.1858G>C (p.Val620Leu)
c.2104G>C (p.Val702Leu)
n.2152G>C
c.2196G>C (n.2196G>C)
c.2056G>C (p.Val686Leu)
c.1762G>C (p.Val588Leu)
c.1955G>C (n.1955G>C)
c.2071G>C (n.2071G>C)
c.2152G>C (p.Val718Leu)
c.1780G>C (p.Val594Leu)
c.463G>C (p.Val155Leu)
c.1738G>C (p.Val580Leu)
c.1069G>C (p.Val357Leu)
c.934G>C (p.Val312Leu)
c.1486G>C (p.Val496Leu)
10g.94594758G>TCA377667942HELLSc.826G>T (p.Val276Phe)
c.2087G>T (n.2087G>T)
c.2290G>T (p.Val764Phe)
c.1858G>T (p.Val620Phe)
c.2104G>T (p.Val702Phe)
n.2152G>T
c.2196G>T (n.2196G>T)
c.2056G>T (p.Val686Phe)
c.1762G>T (p.Val588Phe)
c.1955G>T (n.1955G>T)
c.2071G>T (n.2071G>T)
c.2152G>T (p.Val718Phe)
c.1780G>T (p.Val594Phe)
c.463G>T (p.Val155Phe)
c.1738G>T (p.Val580Phe)
c.1069G>T (p.Val357Phe)
c.934G>T (p.Val312Phe)
c.1486G>T (p.Val496Phe)
10g.94594759T>ACA377667947HELLSc.827T>A (p.Val276Asp)
c.2088T>A (n.2088T>A)
c.2291T>A (p.Val764Asp)
c.1859T>A (p.Val620Asp)
c.2105T>A (p.Val702Asp)
n.2153T>A
c.2197T>A (n.2197T>A)
c.2057T>A (p.Val686Asp)
c.1763T>A (p.Val588Asp)
c.1956T>A (n.1956T>A)
c.2072T>A (n.2072T>A)
c.2153T>A (p.Val718Asp)
c.1781T>A (p.Val594Asp)
c.464T>A (p.Val155Asp)
c.1739T>A (p.Val580Asp)
c.1070T>A (p.Val357Asp)
c.935T>A (p.Val312Asp)
c.1487T>A (p.Val496Asp)
10g.94594759T>CCA377667945HELLSc.827T>C (p.Val276Ala)
c.2088T>C (n.2088T>C)
c.2291T>C (p.Val764Ala)
c.1859T>C (p.Val620Ala)
c.2105T>C (p.Val702Ala)
n.2153T>C
c.2197T>C (n.2197T>C)
c.2057T>C (p.Val686Ala)
c.1763T>C (p.Val588Ala)
c.1956T>C (n.1956T>C)
c.2072T>C (n.2072T>C)
c.2153T>C (p.Val718Ala)
c.1781T>C (p.Val594Ala)
c.464T>C (p.Val155Ala)
c.1739T>C (p.Val580Ala)
c.1070T>C (p.Val357Ala)
c.935T>C (p.Val312Ala)
c.1487T>C (p.Val496Ala)
10g.94594759T>GCA377667946HELLSc.827T>G (p.Val276Gly)
c.2088T>G (n.2088T>G)
c.2291T>G (p.Val764Gly)
c.1859T>G (p.Val620Gly)
c.2105T>G (p.Val702Gly)
n.2153T>G
c.2197T>G (n.2197T>G)
c.2057T>G (p.Val686Gly)
c.1763T>G (p.Val588Gly)
c.1956T>G (n.1956T>G)
c.2072T>G (n.2072T>G)
c.2153T>G (p.Val718Gly)
c.1781T>G (p.Val594Gly)
c.464T>G (p.Val155Gly)
c.1739T>G (p.Val580Gly)
c.1070T>G (p.Val357Gly)
c.935T>G (p.Val312Gly)
c.1487T>G (p.Val496Gly)
 gnomAD v4
10g.94594760T>ACA470822503HELLSc.828T>A (p.Val276=)
c.2089T>A (n.2089T>A)
c.2292T>A (p.Val764=)
c.1860T>A (p.Val620=)
c.2106T>A (p.Val702=)
n.2154T>A
c.2198T>A (n.2198T>A)
c.2058T>A (p.Val686=)
c.1764T>A (p.Val588=)
c.1957T>A (n.1957T>A)
c.2073T>A (n.2073T>A)
c.2154T>A (p.Val718=)
c.1782T>A (p.Val594=)
c.465T>A (p.Val155=)
c.1740T>A (p.Val580=)
c.1071T>A (p.Val357=)
c.936T>A (p.Val312=)
c.1488T>A (p.Val496=)
10g.94594760T>CCA470822504HELLSc.828T>C (p.Val276=)
c.2089T>C (n.2089T>C)
c.2292T>C (p.Val764=)
c.1860T>C (p.Val620=)
c.2106T>C (p.Val702=)
n.2154T>C
c.2198T>C (n.2198T>C)
c.2058T>C (p.Val686=)
c.1764T>C (p.Val588=)
c.1957T>C (n.1957T>C)
c.2073T>C (n.2073T>C)
c.2154T>C (p.Val718=)
c.1782T>C (p.Val594=)
c.465T>C (p.Val155=)
c.1740T>C (p.Val580=)
c.1071T>C (p.Val357=)
c.936T>C (p.Val312=)
c.1488T>C (p.Val496=)
10g.94594760T>GCA470822505HELLSc.828T>G (p.Val276=)
c.2089T>G (n.2089T>G)
c.2292T>G (p.Val764=)
c.1860T>G (p.Val620=)
c.2106T>G (p.Val702=)
n.2154T>G
c.2198T>G (n.2198T>G)
c.2058T>G (p.Val686=)
c.1764T>G (p.Val588=)
c.1957T>G (n.1957T>G)
c.2073T>G (n.2073T>G)
c.2154T>G (p.Val718=)
c.1782T>G (p.Val594=)
c.465T>G (p.Val155=)
c.1740T>G (p.Val580=)
c.1071T>G (p.Val357=)
c.936T>G (p.Val312=)
c.1488T>G (p.Val496=)
 dbSNP COSMIC COSMIC
10g.94594760T=CA1929136091HELLSc.828T= (p.Val276=)
c.2089T= (n.2089T=)
c.2292T= (p.Val764=)
c.1860T= (p.Val620=)
c.2106T= (p.Val702=)
n.2154T=
c.2198T= (n.2198T=)
c.2058T= (p.Val686=)
c.1764T= (p.Val588=)
c.1957T= (n.1957T=)
c.2073T= (n.2073T=)
c.2154T= (p.Val718=)
c.1782T= (p.Val594=)
c.465T= (p.Val155=)
c.1740T= (p.Val580=)
c.1071T= (p.Val357=)
c.936T= (p.Val312=)
c.1488T= (p.Val496=)
10g.94594761G>ACA377667950HELLSc.829G>A (p.Val277Ile)
c.2090G>A (n.2090G>A)
c.2293G>A (p.Val765Ile)
c.1861G>A (p.Val621Ile)
c.2107G>A (p.Val703Ile)
n.2155G>A
c.2199G>A (n.2199G>A)
c.2059G>A (p.Val687Ile)
c.1765G>A (p.Val589Ile)
c.1958G>A (n.1958G>A)
c.2074G>A (n.2074G>A)
c.2155G>A (p.Val719Ile)
c.1783G>A (p.Val595Ile)
c.466G>A (p.Val156Ile)
c.1741G>A (p.Val581Ile)
c.1072G>A (p.Val358Ile)
c.937G>A (p.Val313Ile)
c.1489G>A (p.Val497Ile)
 gnomAD v4 COSMIC COSMIC
10g.94594761G>CCA377667952HELLSc.829G>C (p.Val277Leu)
c.2090G>C (n.2090G>C)
c.2293G>C (p.Val765Leu)
c.1861G>C (p.Val621Leu)
c.2107G>C (p.Val703Leu)
n.2155G>C
c.2199G>C (n.2199G>C)
c.2059G>C (p.Val687Leu)
c.1765G>C (p.Val589Leu)
c.1958G>C (n.1958G>C)
c.2074G>C (n.2074G>C)
c.2155G>C (p.Val719Leu)
c.1783G>C (p.Val595Leu)
c.466G>C (p.Val156Leu)
c.1741G>C (p.Val581Leu)
c.1072G>C (p.Val358Leu)
c.937G>C (p.Val313Leu)
c.1489G>C (p.Val497Leu)
10g.94594761G>TCA377667954HELLSc.829G>T (p.Val277Phe)
c.2090G>T (n.2090G>T)
c.2293G>T (p.Val765Phe)
c.1861G>T (p.Val621Phe)
c.2107G>T (p.Val703Phe)
n.2155G>T
c.2199G>T (n.2199G>T)
c.2059G>T (p.Val687Phe)
c.1765G>T (p.Val589Phe)
c.1958G>T (n.1958G>T)
c.2074G>T (n.2074G>T)
c.2155G>T (p.Val719Phe)
c.1783G>T (p.Val595Phe)
c.466G>T (p.Val156Phe)
c.1741G>T (p.Val581Phe)
c.1072G>T (p.Val358Phe)
c.937G>T (p.Val313Phe)
c.1489G>T (p.Val497Phe)
 gnomAD v4
10g.94594762T>ACA377667957HELLSc.830T>A (p.Val277Asp)
c.2091T>A (n.2091T>A)
c.2294T>A (p.Val765Asp)
c.1862T>A (p.Val621Asp)
c.2108T>A (p.Val703Asp)
n.2156T>A
c.2200T>A (n.2200T>A)
c.2060T>A (p.Val687Asp)
c.1766T>A (p.Val589Asp)
c.1959T>A (n.1959T>A)
c.2075T>A (n.2075T>A)
c.2156T>A (p.Val719Asp)
c.1784T>A (p.Val595Asp)
c.467T>A (p.Val156Asp)
c.1742T>A (p.Val581Asp)
c.1073T>A (p.Val358Asp)
c.938T>A (p.Val313Asp)
c.1490T>A (p.Val497Asp)
10g.94594762T>CCA377667958HELLSc.830T>C (p.Val277Ala)
c.2091T>C (n.2091T>C)
c.2294T>C (p.Val765Ala)
c.1862T>C (p.Val621Ala)
c.2108T>C (p.Val703Ala)
n.2156T>C
c.2200T>C (n.2200T>C)
c.2060T>C (p.Val687Ala)
c.1766T>C (p.Val589Ala)
c.1959T>C (n.1959T>C)
c.2075T>C (n.2075T>C)
c.2156T>C (p.Val719Ala)
c.1784T>C (p.Val595Ala)
c.467T>C (p.Val156Ala)
c.1742T>C (p.Val581Ala)
c.1073T>C (p.Val358Ala)
c.938T>C (p.Val313Ala)
c.1490T>C (p.Val497Ala)
10g.94594762T>GCA377667960HELLSc.830T>G (p.Val277Gly)
c.2091T>G (n.2091T>G)
c.2294T>G (p.Val765Gly)
c.1862T>G (p.Val621Gly)
c.2108T>G (p.Val703Gly)
n.2156T>G
c.2200T>G (n.2200T>G)
c.2060T>G (p.Val687Gly)
c.1766T>G (p.Val589Gly)
c.1959T>G (n.1959T>G)
c.2075T>G (n.2075T>G)
c.2156T>G (p.Val719Gly)
c.1784T>G (p.Val595Gly)
c.467T>G (p.Val156Gly)
c.1742T>G (p.Val581Gly)
c.1073T>G (p.Val358Gly)
c.938T>G (p.Val313Gly)
c.1490T>G (p.Val497Gly)
10g.94594763T>ACA470822509HELLSc.831T>A (p.Val277=)
c.2092T>A (n.2092T>A)
c.2295T>A (p.Val765=)
c.1863T>A (p.Val621=)
c.2109T>A (p.Val703=)
n.2157T>A
c.2201T>A (n.2201T>A)
c.2061T>A (p.Val687=)
c.1767T>A (p.Val589=)
c.1960T>A (n.1960T>A)
c.2076T>A (n.2076T>A)
c.2157T>A (p.Val719=)
c.1785T>A (p.Val595=)
c.468T>A (p.Val156=)
c.1743T>A (p.Val581=)
c.1074T>A (p.Val358=)
c.939T>A (p.Val313=)
c.1491T>A (p.Val497=)
 COSMIC COSMIC
10g.94594763T>CCA470822507HELLSc.831T>C (p.Val277=)
c.2092T>C (n.2092T>C)
c.2295T>C (p.Val765=)
c.1863T>C (p.Val621=)
c.2109T>C (p.Val703=)
n.2157T>C
c.2201T>C (n.2201T>C)
c.2061T>C (p.Val687=)
c.1767T>C (p.Val589=)
c.1960T>C (n.1960T>C)
c.2076T>C (n.2076T>C)
c.2157T>C (p.Val719=)
c.1785T>C (p.Val595=)
c.468T>C (p.Val156=)
c.1743T>C (p.Val581=)
c.1074T>C (p.Val358=)
c.939T>C (p.Val313=)
c.1491T>C (p.Val497=)
10g.94594763T>GCA470822508HELLSc.831T>G (p.Val277=)
c.2092T>G (n.2092T>G)
c.2295T>G (p.Val765=)
c.1863T>G (p.Val621=)
c.2109T>G (p.Val703=)
n.2157T>G
c.2201T>G (n.2201T>G)
c.2061T>G (p.Val687=)
c.1767T>G (p.Val589=)
c.1960T>G (n.1960T>G)
c.2076T>G (n.2076T>G)
c.2157T>G (p.Val719=)
c.1785T>G (p.Val595=)
c.468T>G (p.Val156=)
c.1743T>G (p.Val581=)
c.1074T>G (p.Val358=)
c.939T>G (p.Val313=)
c.1491T>G (p.Val497=)
 dbSNP
10g.94594763T=CA1929136092HELLSc.831T= (p.Val277=)
c.2092T= (n.2092T=)
c.2295T= (p.Val765=)
c.1863T= (p.Val621=)
c.2109T= (p.Val703=)
n.2157T=
c.2201T= (n.2201T=)
c.2061T= (p.Val687=)
c.1767T= (p.Val589=)
c.1960T= (n.1960T=)
c.2076T= (n.2076T=)
c.2157T= (p.Val719=)
c.1785T= (p.Val595=)
c.468T= (p.Val156=)
c.1743T= (p.Val581=)
c.1074T= (p.Val358=)
c.939T= (p.Val313=)
c.1491T= (p.Val497=)
10g.94594764T>ACA377667966HELLSc.832T>A (p.Tyr278Asn)
c.2093T>A (n.2093T>A)
c.2296T>A (p.Tyr766Asn)
c.1864T>A (p.Tyr622Asn)
c.2110T>A (p.Tyr704Asn)
n.2158T>A
c.2202T>A (n.2202T>A)
c.2062T>A (p.Tyr688Asn)
c.1768T>A (p.Tyr590Asn)
c.1961T>A (n.1961T>A)
c.2077T>A (n.2077T>A)
c.2158T>A (p.Tyr720Asn)
c.1786T>A (p.Tyr596Asn)
c.469T>A (p.Tyr157Asn)
c.1744T>A (p.Tyr582Asn)
c.1075T>A (p.Tyr359Asn)
c.940T>A (p.Tyr314Asn)
c.1492T>A (p.Tyr498Asn)
10g.94594764T>CCA377667963HELLSc.832T>C (p.Tyr278His)
c.2093T>C (n.2093T>C)
c.2296T>C (p.Tyr766His)
c.1864T>C (p.Tyr622His)
c.2110T>C (p.Tyr704His)
n.2158T>C
c.2202T>C (n.2202T>C)
c.2062T>C (p.Tyr688His)
c.1768T>C (p.Tyr590His)
c.1961T>C (n.1961T>C)
c.2077T>C (n.2077T>C)
c.2158T>C (p.Tyr720His)
c.1786T>C (p.Tyr596His)
c.469T>C (p.Tyr157His)
c.1744T>C (p.Tyr582His)
c.1075T>C (p.Tyr359His)
c.940T>C (p.Tyr314His)
c.1492T>C (p.Tyr498His)
10g.94594764T>GCA377667964HELLSc.832T>G (p.Tyr278Asp)
c.2093T>G (n.2093T>G)
c.2296T>G (p.Tyr766Asp)
c.1864T>G (p.Tyr622Asp)
c.2110T>G (p.Tyr704Asp)
n.2158T>G
c.2202T>G (n.2202T>G)
c.2062T>G (p.Tyr688Asp)
c.1768T>G (p.Tyr590Asp)
c.1961T>G (n.1961T>G)
c.2077T>G (n.2077T>G)
c.2158T>G (p.Tyr720Asp)
c.1786T>G (p.Tyr596Asp)
c.469T>G (p.Tyr157Asp)
c.1744T>G (p.Tyr582Asp)
c.1075T>G (p.Tyr359Asp)
c.940T>G (p.Tyr314Asp)
c.1492T>G (p.Tyr498Asp)
10g.94594765A>CCA377667969HELLSc.833A>C (p.Tyr278Ser)
c.2094A>C (n.2094A>C)
c.2297A>C (p.Tyr766Ser)
c.1865A>C (p.Tyr622Ser)
c.2111A>C (p.Tyr704Ser)
n.2159A>C
c.2203A>C (n.2203A>C)
c.2063A>C (p.Tyr688Ser)
c.1769A>C (p.Tyr590Ser)
c.1962A>C (n.1962A>C)
c.2078A>C (n.2078A>C)
c.2159A>C (p.Tyr720Ser)
c.1787A>C (p.Tyr596Ser)
c.470A>C (p.Tyr157Ser)
c.1745A>C (p.Tyr582Ser)
c.1076A>C (p.Tyr359Ser)
c.941A>C (p.Tyr314Ser)
c.1493A>C (p.Tyr498Ser)
10g.94594765A>GCA377667971HELLSc.833A>G (p.Tyr278Cys)
c.2094A>G (n.2094A>G)
c.2297A>G (p.Tyr766Cys)
c.1865A>G (p.Tyr622Cys)
c.2111A>G (p.Tyr704Cys)
n.2159A>G
c.2203A>G (n.2203A>G)
c.2063A>G (p.Tyr688Cys)
c.1769A>G (p.Tyr590Cys)
c.1962A>G (n.1962A>G)
c.2078A>G (n.2078A>G)
c.2159A>G (p.Tyr720Cys)
c.1787A>G (p.Tyr596Cys)
c.470A>G (p.Tyr157Cys)
c.1745A>G (p.Tyr582Cys)
c.1076A>G (p.Tyr359Cys)
c.941A>G (p.Tyr314Cys)
c.1493A>G (p.Tyr498Cys)
10g.94594765A>TCA377667973HELLSc.833A>T (p.Tyr278Phe)
c.2094A>T (n.2094A>T)
c.2297A>T (p.Tyr766Phe)
c.1865A>T (p.Tyr622Phe)
c.2111A>T (p.Tyr704Phe)
n.2159A>T
c.2203A>T (n.2203A>T)
c.2063A>T (p.Tyr688Phe)
c.1769A>T (p.Tyr590Phe)
c.1962A>T (n.1962A>T)
c.2078A>T (n.2078A>T)
c.2159A>T (p.Tyr720Phe)
c.1787A>T (p.Tyr596Phe)
c.470A>T (p.Tyr157Phe)
c.1745A>T (p.Tyr582Phe)
c.1076A>T (p.Tyr359Phe)
c.941A>T (p.Tyr314Phe)
c.1493A>T (p.Tyr498Phe)
10g.94594766T>ACA377667975HELLSc.834T>A (p.Tyr278Ter)
c.2095T>A (n.2095T>A)
c.2298T>A (p.Tyr766Ter)
c.1866T>A (p.Tyr622Ter)
c.2112T>A (p.Tyr704Ter)
n.2160T>A
c.2204T>A (n.2204T>A)
c.2064T>A (p.Tyr688Ter)
c.1770T>A (p.Tyr590Ter)
c.1963T>A (n.1963T>A)
c.2079T>A (n.2079T>A)
c.2160T>A (p.Tyr720Ter)
c.1788T>A (p.Tyr596Ter)
c.471T>A (p.Tyr157Ter)
c.1746T>A (p.Tyr582Ter)
c.1077T>A (p.Tyr359Ter)
c.942T>A (p.Tyr314Ter)
c.1494T>A (p.Tyr498Ter)
10g.94594766T>CCA470822513HELLSc.834T>C (p.Tyr278=)
c.2095T>C (n.2095T>C)
c.2298T>C (p.Tyr766=)
c.1866T>C (p.Tyr622=)
c.2112T>C (p.Tyr704=)
n.2160T>C
c.2204T>C (n.2204T>C)
c.2064T>C (p.Tyr688=)
c.1770T>C (p.Tyr590=)
c.1963T>C (n.1963T>C)
c.2079T>C (n.2079T>C)
c.2160T>C (p.Tyr720=)
c.1788T>C (p.Tyr596=)
c.471T>C (p.Tyr157=)
c.1746T>C (p.Tyr582=)
c.1077T>C (p.Tyr359=)
c.942T>C (p.Tyr314=)
c.1494T>C (p.Tyr498=)
10g.94594766T>GCA377667977HELLSc.834T>G (p.Tyr278Ter)
c.2095T>G (n.2095T>G)
c.2298T>G (p.Tyr766Ter)
c.1866T>G (p.Tyr622Ter)
c.2112T>G (p.Tyr704Ter)
n.2160T>G
c.2204T>G (n.2204T>G)
c.2064T>G (p.Tyr688Ter)
c.1770T>G (p.Tyr590Ter)
c.1963T>G (n.1963T>G)
c.2079T>G (n.2079T>G)
c.2160T>G (p.Tyr720Ter)
c.1788T>G (p.Tyr596Ter)
c.471T>G (p.Tyr157Ter)
c.1746T>G (p.Tyr582Ter)
c.1077T>G (p.Tyr359Ter)
c.942T>G (p.Tyr314Ter)
c.1494T>G (p.Tyr498Ter)
10g.94594767C>ACA377667983HELLSc.835C>A (p.Arg279Ser)
c.2096C>A (n.2096C>A)
c.2299C>A (p.Arg767Ser)
c.1867C>A (p.Arg623Ser)
c.2113C>A (p.Arg705Ser)
n.2161C>A
c.2205C>A (n.2205C>A)
c.2065C>A (p.Arg689Ser)
c.1771C>A (p.Arg591Ser)
c.1964C>A (n.1964C>A)
c.2080C>A (n.2080C>A)
c.2161C>A (p.Arg721Ser)
c.1789C>A (p.Arg597Ser)
c.472C>A (p.Arg158Ser)
c.1747C>A (p.Arg583Ser)
c.1078C>A (p.Arg360Ser)
c.943C>A (p.Arg315Ser)
c.1495C>A (p.Arg499Ser)
10g.94594767C=CA1929136093HELLSc.835C= (p.Arg279=)
c.2096C= (n.2096C=)
c.2299C= (p.Arg767=)
c.1867C= (p.Arg623=)
c.2113C= (p.Arg705=)
n.2161C=
c.2205C= (n.2205C=)
c.2065C= (p.Arg689=)
c.1771C= (p.Arg591=)
c.1964C= (n.1964C=)
c.2080C= (n.2080C=)
c.2161C= (p.Arg721=)
c.1789C= (p.Arg597=)
c.472C= (p.Arg158=)
c.1747C= (p.Arg583=)
c.1078C= (p.Arg360=)
c.943C= (p.Arg315=)
c.1495C= (p.Arg499=)
10g.94594767C>GCA377667981HELLSc.835C>G (p.Arg279Gly)
c.2096C>G (n.2096C>G)
c.2299C>G (p.Arg767Gly)
c.1867C>G (p.Arg623Gly)
c.2113C>G (p.Arg705Gly)
n.2161C>G
c.2205C>G (n.2205C>G)
c.2065C>G (p.Arg689Gly)
c.1771C>G (p.Arg591Gly)
c.1964C>G (n.1964C>G)
c.2080C>G (n.2080C>G)
c.2161C>G (p.Arg721Gly)
c.1789C>G (p.Arg597Gly)
c.472C>G (p.Arg158Gly)
c.1747C>G (p.Arg583Gly)
c.1078C>G (p.Arg360Gly)
c.943C>G (p.Arg315Gly)
c.1495C>G (p.Arg499Gly)
10g.94594767C>TCA5615662HELLSc.835C>T (p.Arg279Cys)
c.2096C>T (n.2096C>T)
c.2299C>T (p.Arg767Cys)
c.1867C>T (p.Arg623Cys)
c.2113C>T (p.Arg705Cys)
n.2161C>T
c.2205C>T (n.2205C>T)
c.2065C>T (p.Arg689Cys)
c.1771C>T (p.Arg591Cys)
c.1964C>T (n.1964C>T)
c.2080C>T (n.2080C>T)
c.2161C>T (p.Arg721Cys)
c.1789C>T (p.Arg597Cys)
c.472C>T (p.Arg158Cys)
c.1747C>T (p.Arg583Cys)
c.1078C>T (p.Arg360Cys)
c.943C>T (p.Arg315Cys)
c.1495C>T (p.Arg499Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94594768G>ACA377667986HELLSc.836G>A (p.Arg279His)
c.2097G>A (n.2097G>A)
c.2300G>A (p.Arg767His)
c.1868G>A (p.Arg623His)
c.2114G>A (p.Arg705His)
n.2162G>A
c.2206G>A (n.2206G>A)
c.2066G>A (p.Arg689His)
c.1772G>A (p.Arg591His)
c.1965G>A (n.1965G>A)
c.2081G>A (n.2081G>A)
c.2162G>A (p.Arg721His)
c.1790G>A (p.Arg597His)
c.473G>A (p.Arg158His)
c.1748G>A (p.Arg583His)
c.1079G>A (p.Arg360His)
c.944G>A (p.Arg315His)
c.1496G>A (p.Arg499His)
 COSMIC
10g.94594768G>CCA377667988HELLSc.836G>C (p.Arg279Pro)
c.2097G>C (n.2097G>C)
c.2300G>C (p.Arg767Pro)
c.1868G>C (p.Arg623Pro)
c.2114G>C (p.Arg705Pro)
n.2162G>C
c.2206G>C (n.2206G>C)
c.2066G>C (p.Arg689Pro)
c.1772G>C (p.Arg591Pro)
c.1965G>C (n.1965G>C)
c.2081G>C (n.2081G>C)
c.2162G>C (p.Arg721Pro)
c.1790G>C (p.Arg597Pro)
c.473G>C (p.Arg158Pro)
c.1748G>C (p.Arg583Pro)
c.1079G>C (p.Arg360Pro)
c.944G>C (p.Arg315Pro)
c.1496G>C (p.Arg499Pro)
10g.94594768G>TCA377667989HELLSc.836G>T (p.Arg279Leu)
c.2097G>T (n.2097G>T)
c.2300G>T (p.Arg767Leu)
c.1868G>T (p.Arg623Leu)
c.2114G>T (p.Arg705Leu)
n.2162G>T
c.2206G>T (n.2206G>T)
c.2066G>T (p.Arg689Leu)
c.1772G>T (p.Arg591Leu)
c.1965G>T (n.1965G>T)
c.2081G>T (n.2081G>T)
c.2162G>T (p.Arg721Leu)
c.1790G>T (p.Arg597Leu)
c.473G>T (p.Arg158Leu)
c.1748G>T (p.Arg583Leu)
c.1079G>T (p.Arg360Leu)
c.944G>T (p.Arg315Leu)
c.1496G>T (p.Arg499Leu)
10g.94594769C>ACA470822515HELLSc.837C>A (p.Arg279=)
c.2098C>A (n.2098C>A)
c.2301C>A (p.Arg767=)
c.1869C>A (p.Arg623=)
c.2115C>A (p.Arg705=)
n.2163C>A
c.2207C>A (n.2207C>A)
c.2067C>A (p.Arg689=)
c.1773C>A (p.Arg591=)
c.1966C>A (n.1966C>A)
c.2082C>A (n.2082C>A)
c.2163C>A (p.Arg721=)
c.1791C>A (p.Arg597=)
c.474C>A (p.Arg158=)
c.1749C>A (p.Arg583=)
c.1080C>A (p.Arg360=)
c.945C>A (p.Arg315=)
c.1497C>A (p.Arg499=)
10g.94594769C=CA1929136094HELLSc.837C= (p.Arg279=)
c.2098C= (n.2098C=)
c.2301C= (p.Arg767=)
c.1869C= (p.Arg623=)
c.2115C= (p.Arg705=)
n.2163C=
c.2207C= (n.2207C=)
c.2067C= (p.Arg689=)
c.1773C= (p.Arg591=)
c.1966C= (n.1966C=)
c.2082C= (n.2082C=)
c.2163C= (p.Arg721=)
c.1791C= (p.Arg597=)
c.474C= (p.Arg158=)
c.1749C= (p.Arg583=)
c.1080C= (p.Arg360=)
c.945C= (p.Arg315=)
c.1497C= (p.Arg499=)
10g.94594769C>GCA470822516HELLSc.837C>G (p.Arg279=)
c.2098C>G (n.2098C>G)
c.2301C>G (p.Arg767=)
c.1869C>G (p.Arg623=)
c.2115C>G (p.Arg705=)
n.2163C>G
c.2207C>G (n.2207C>G)
c.2067C>G (p.Arg689=)
c.1773C>G (p.Arg591=)
c.1966C>G (n.1966C>G)
c.2082C>G (n.2082C>G)
c.2163C>G (p.Arg721=)
c.1791C>G (p.Arg597=)
c.474C>G (p.Arg158=)
c.1749C>G (p.Arg583=)
c.1080C>G (p.Arg360=)
c.945C>G (p.Arg315=)
c.1497C>G (p.Arg499=)
10g.94594769C>TCA470822517HELLSc.837C>T (p.Arg279=)
c.2098C>T (n.2098C>T)
c.2301C>T (p.Arg767=)
c.1869C>T (p.Arg623=)
c.2115C>T (p.Arg705=)
n.2163C>T
c.2207C>T (n.2207C>T)
c.2067C>T (p.Arg689=)
c.1773C>T (p.Arg591=)
c.1966C>T (n.1966C>T)
c.2082C>T (n.2082C>T)
c.2163C>T (p.Arg721=)
c.1791C>T (p.Arg597=)
c.474C>T (p.Arg158=)
c.1749C>T (p.Arg583=)
c.1080C>T (p.Arg360=)
c.945C>T (p.Arg315=)
c.1497C>T (p.Arg499=)
 dbSNP gnomAD v4 COSMIC COSMIC
10g.94594770C>ACA377667990HELLSc.838C>A (p.Leu280Ile)
c.2099C>A (n.2099C>A)
c.2302C>A (p.Leu768Ile)
c.1870C>A (p.Leu624Ile)
c.2116C>A (p.Leu706Ile)
n.2164C>A
c.2208C>A (n.2208C>A)
c.2068C>A (p.Leu690Ile)
c.1774C>A (p.Leu592Ile)
c.1967C>A (n.1967C>A)
c.2083C>A (n.2083C>A)
c.2164C>A (p.Leu722Ile)
c.1792C>A (p.Leu598Ile)
c.475C>A (p.Leu159Ile)
c.1750C>A (p.Leu584Ile)
c.1081C>A (p.Leu361Ile)
c.946C>A (p.Leu316Ile)
c.1498C>A (p.Leu500Ile)
10g.94594770C>GCA377667992HELLSc.838C>G (p.Leu280Val)
c.2099C>G (n.2099C>G)
c.2302C>G (p.Leu768Val)
c.1870C>G (p.Leu624Val)
c.2116C>G (p.Leu706Val)
n.2164C>G
c.2208C>G (n.2208C>G)
c.2068C>G (p.Leu690Val)
c.1774C>G (p.Leu592Val)
c.1967C>G (n.1967C>G)
c.2083C>G (n.2083C>G)
c.2164C>G (p.Leu722Val)
c.1792C>G (p.Leu598Val)
c.475C>G (p.Leu159Val)
c.1750C>G (p.Leu584Val)
c.1081C>G (p.Leu361Val)
c.946C>G (p.Leu316Val)
c.1498C>G (p.Leu500Val)
10g.94594770C>TCA377667994HELLSc.838C>T (p.Leu280Phe)
c.2099C>T (n.2099C>T)
c.2302C>T (p.Leu768Phe)
c.1870C>T (p.Leu624Phe)
c.2116C>T (p.Leu706Phe)
n.2164C>T
c.2208C>T (n.2208C>T)
c.2068C>T (p.Leu690Phe)
c.1774C>T (p.Leu592Phe)
c.1967C>T (n.1967C>T)
c.2083C>T (n.2083C>T)
c.2164C>T (p.Leu722Phe)
c.1792C>T (p.Leu598Phe)
c.475C>T (p.Leu159Phe)
c.1750C>T (p.Leu584Phe)
c.1081C>T (p.Leu361Phe)
c.946C>T (p.Leu316Phe)
c.1498C>T (p.Leu500Phe)
10g.94594771T>ACA377667996HELLSc.839T>A (p.Leu280His)
c.2100T>A (n.2100T>A)
c.2303T>A (p.Leu768His)
c.1871T>A (p.Leu624His)
c.2117T>A (p.Leu706His)
n.2165T>A
c.2209T>A (n.2209T>A)
c.2069T>A (p.Leu690His)
c.1775T>A (p.Leu592His)
c.1968T>A (n.1968T>A)
c.2084T>A (n.2084T>A)
c.2165T>A (p.Leu722His)
c.1793T>A (p.Leu598His)
c.476T>A (p.Leu159His)
c.1751T>A (p.Leu584His)
c.1082T>A (p.Leu361His)
c.947T>A (p.Leu316His)
c.1499T>A (p.Leu500His)
10g.94594771T>CCA377667997HELLSc.839T>C (p.Leu280Pro)
c.2100T>C (n.2100T>C)
c.2303T>C (p.Leu768Pro)
c.1871T>C (p.Leu624Pro)
c.2117T>C (p.Leu706Pro)
n.2165T>C
c.2209T>C (n.2209T>C)
c.2069T>C (p.Leu690Pro)
c.1775T>C (p.Leu592Pro)
c.1968T>C (n.1968T>C)
c.2084T>C (n.2084T>C)
c.2165T>C (p.Leu722Pro)
c.1793T>C (p.Leu598Pro)
c.476T>C (p.Leu159Pro)
c.1751T>C (p.Leu584Pro)
c.1082T>C (p.Leu361Pro)
c.947T>C (p.Leu316Pro)
c.1499T>C (p.Leu500Pro)
10g.94594771T>GCA377667998HELLSc.839T>G (p.Leu280Arg)
c.2100T>G (n.2100T>G)
c.2303T>G (p.Leu768Arg)
c.1871T>G (p.Leu624Arg)
c.2117T>G (p.Leu706Arg)
n.2165T>G
c.2209T>G (n.2209T>G)
c.2069T>G (p.Leu690Arg)
c.1775T>G (p.Leu592Arg)
c.1968T>G (n.1968T>G)
c.2084T>G (n.2084T>G)
c.2165T>G (p.Leu722Arg)
c.1793T>G (p.Leu598Arg)
c.476T>G (p.Leu159Arg)
c.1751T>G (p.Leu584Arg)
c.1082T>G (p.Leu361Arg)
c.947T>G (p.Leu316Arg)
c.1499T>G (p.Leu500Arg)
10g.94594772T>ACA470822521HELLSc.840T>A (p.Leu280=)
c.2101T>A (n.2101T>A)
c.2304T>A (p.Leu768=)
c.1872T>A (p.Leu624=)
c.2118T>A (p.Leu706=)
n.2166T>A
c.2210T>A (n.2210T>A)
c.2070T>A (p.Leu690=)
c.1776T>A (p.Leu592=)
c.1969T>A (n.1969T>A)
c.2085T>A (n.2085T>A)
c.2166T>A (p.Leu722=)
c.1794T>A (p.Leu598=)
c.477T>A (p.Leu159=)
c.1752T>A (p.Leu584=)
c.1083T>A (p.Leu361=)
c.948T>A (p.Leu316=)
c.1500T>A (p.Leu500=)
10g.94594772T>CCA470822522HELLSc.840T>C (p.Leu280=)
c.2101T>C (n.2101T>C)
c.2304T>C (p.Leu768=)
c.1872T>C (p.Leu624=)
c.2118T>C (p.Leu706=)
n.2166T>C
c.2210T>C (n.2210T>C)
c.2070T>C (p.Leu690=)
c.1776T>C (p.Leu592=)
c.1969T>C (n.1969T>C)
c.2085T>C (n.2085T>C)
c.2166T>C (p.Leu722=)
c.1794T>C (p.Leu598=)
c.477T>C (p.Leu159=)
c.1752T>C (p.Leu584=)
c.1083T>C (p.Leu361=)
c.948T>C (p.Leu316=)
c.1500T>C (p.Leu500=)
10g.94594772T>GCA470822523HELLSc.840T>G (p.Leu280=)
c.2101T>G (n.2101T>G)
c.2304T>G (p.Leu768=)
c.1872T>G (p.Leu624=)
c.2118T>G (p.Leu706=)
n.2166T>G
c.2210T>G (n.2210T>G)
c.2070T>G (p.Leu690=)
c.1776T>G (p.Leu592=)
c.1969T>G (n.1969T>G)
c.2085T>G (n.2085T>G)
c.2166T>G (p.Leu722=)
c.1794T>G (p.Leu598=)
c.477T>G (p.Leu159=)
c.1752T>G (p.Leu584=)
c.1083T>G (p.Leu361=)
c.948T>G (p.Leu316=)
c.1500T>G (p.Leu500=)
10g.94594772_94594773delinsTGCA1929136095HELLSc.840_841delinsTG (p.Leu280=)
c.2101_2102delinsTG (n.2101_2102delinsTG)
c.2304_2305delinsTG (p.Leu768=)
c.1872_1873delinsTG (p.Leu624=)
c.2118_2119delinsTG (p.Leu706=)
n.2166_2167delinsTG
c.2210_2211delinsTG (n.2210_2211delinsTG)
c.2070_2071delinsTG (p.Leu690=)
c.1776_1777delinsTG (p.Leu592=)
c.1969_1970delinsTG (n.1969_1970delinsTG)
c.2085_2086delinsTG (n.2085_2086delinsTG)
c.2166_2167delinsTG (p.Leu722=)
c.1794_1795delinsTG (p.Leu598=)
c.477_478delinsTG (p.Leu159=)
c.1752_1753delinsTG (p.Leu584=)
c.1083_1084delinsTG (p.Leu361=)
c.948_949delinsTG (p.Leu316=)
c.1500_1501delinsTG (p.Leu500=)
10g.94594773delCA1929136096HELLSc.841del (p.Val281LeufsTer23)
c.2102del (n.2102del)
c.2305del (p.Val769LeufsTer23)
c.1873del (p.Val625LeufsTer23)
c.2119del (p.Val707LeufsTer23)
n.2167del
c.2211del (n.2211del)
c.2071del (p.Val691LeufsTer23)
c.1777del (p.Val593LeufsTer23)
c.1970del (n.1970del)
c.2086del (n.2086del)
c.2167del (p.Val723LeufsTer23)
c.1795del (p.Val599LeufsTer23)
c.478del (p.Val160LeufsTer23)
c.1753del (p.Val585LeufsTer23)
c.1084del (p.Val362LeufsTer23)
c.949del (p.Val317LeufsTer23)
c.1501del (p.Val501LeufsTer23)
 dbSNP
10g.94594773G>ACA377668001HELLSc.841G>A (p.Val281Ile)
c.2102G>A (n.2102G>A)
c.2305G>A (p.Val769Ile)
c.1873G>A (p.Val625Ile)
c.2119G>A (p.Val707Ile)
n.2167G>A
c.2211G>A (n.2211G>A)
c.2071G>A (p.Val691Ile)
c.1777G>A (p.Val593Ile)
c.1970G>A (n.1970G>A)
c.2086G>A (n.2086G>A)
c.2167G>A (p.Val723Ile)
c.1795G>A (p.Val599Ile)
c.478G>A (p.Val160Ile)
c.1753G>A (p.Val585Ile)
c.1084G>A (p.Val362Ile)
c.949G>A (p.Val317Ile)
c.1501G>A (p.Val501Ile)
 gnomAD v4
10g.94594773G>CCA377668003HELLSc.841G>C (p.Val281Leu)
c.2102G>C (n.2102G>C)
c.2305G>C (p.Val769Leu)
c.1873G>C (p.Val625Leu)
c.2119G>C (p.Val707Leu)
n.2167G>C
c.2211G>C (n.2211G>C)
c.2071G>C (p.Val691Leu)
c.1777G>C (p.Val593Leu)
c.1970G>C (n.1970G>C)
c.2086G>C (n.2086G>C)
c.2167G>C (p.Val723Leu)
c.1795G>C (p.Val599Leu)
c.478G>C (p.Val160Leu)
c.1753G>C (p.Val585Leu)
c.1084G>C (p.Val362Leu)
c.949G>C (p.Val317Leu)
c.1501G>C (p.Val501Leu)
 dbSNP
10g.94594773G=CA1929136097HELLSc.841G= (p.Val281=)
c.2102G= (n.2102G=)
c.2305G= (p.Val769=)
c.1873G= (p.Val625=)
c.2119G= (p.Val707=)
n.2167G=
c.2211G= (n.2211G=)
c.2071G= (p.Val691=)
c.1777G= (p.Val593=)
c.1970G= (n.1970G=)
c.2086G= (n.2086G=)
c.2167G= (p.Val723=)
c.1795G= (p.Val599=)
c.478G= (p.Val160=)
c.1753G= (p.Val585=)
c.1084G= (p.Val362=)
c.949G= (p.Val317=)
c.1501G= (p.Val501=)
10g.94594773G>TCA377668005HELLSc.841G>T (p.Val281Phe)
c.2102G>T (n.2102G>T)
c.2305G>T (p.Val769Phe)
c.1873G>T (p.Val625Phe)
c.2119G>T (p.Val707Phe)
n.2167G>T
c.2211G>T (n.2211G>T)
c.2071G>T (p.Val691Phe)
c.1777G>T (p.Val593Phe)
c.1970G>T (n.1970G>T)
c.2086G>T (n.2086G>T)
c.2167G>T (p.Val723Phe)
c.1795G>T (p.Val599Phe)
c.478G>T (p.Val160Phe)
c.1753G>T (p.Val585Phe)
c.1084G>T (p.Val362Phe)
c.949G>T (p.Val317Phe)
c.1501G>T (p.Val501Phe)
10g.94594774T>ACA377668008HELLSc.842T>A (p.Val281Asp)
c.2103T>A (n.2103T>A)
c.2306T>A (p.Val769Asp)
c.1874T>A (p.Val625Asp)
c.2120T>A (p.Val707Asp)
n.2168T>A
c.2212T>A (n.2212T>A)
c.2072T>A (p.Val691Asp)
c.1778T>A (p.Val593Asp)
c.1971T>A (n.1971T>A)
c.2087T>A (n.2087T>A)
c.2168T>A (p.Val723Asp)
c.1796T>A (p.Val599Asp)
c.479T>A (p.Val160Asp)
c.1754T>A (p.Val585Asp)
c.1085T>A (p.Val362Asp)
c.950T>A (p.Val317Asp)
c.1502T>A (p.Val501Asp)
10g.94594774T>CCA377668011HELLSc.842T>C (p.Val281Ala)
c.2103T>C (n.2103T>C)
c.2306T>C (p.Val769Ala)
c.1874T>C (p.Val625Ala)
c.2120T>C (p.Val707Ala)
n.2168T>C
c.2212T>C (n.2212T>C)
c.2072T>C (p.Val691Ala)
c.1778T>C (p.Val593Ala)
c.1971T>C (n.1971T>C)
c.2087T>C (n.2087T>C)
c.2168T>C (p.Val723Ala)
c.1796T>C (p.Val599Ala)
c.479T>C (p.Val160Ala)
c.1754T>C (p.Val585Ala)
c.1085T>C (p.Val362Ala)
c.950T>C (p.Val317Ala)
c.1502T>C (p.Val501Ala)
10g.94594774T>GCA377668010HELLSc.842T>G (p.Val281Gly)
c.2103T>G (n.2103T>G)
c.2306T>G (p.Val769Gly)
c.1874T>G (p.Val625Gly)
c.2120T>G (p.Val707Gly)
n.2168T>G
c.2212T>G (n.2212T>G)
c.2072T>G (p.Val691Gly)
c.1778T>G (p.Val593Gly)
c.1971T>G (n.1971T>G)
c.2087T>G (n.2087T>G)
c.2168T>G (p.Val723Gly)
c.1796T>G (p.Val599Gly)
c.479T>G (p.Val160Gly)
c.1754T>G (p.Val585Gly)
c.1085T>G (p.Val362Gly)
c.950T>G (p.Val317Gly)
c.1502T>G (p.Val501Gly)
10g.94594775T>ACA470822525HELLSc.843T>A (p.Val281=)
c.2104T>A (n.2104T>A)
c.2307T>A (p.Val769=)
c.1875T>A (p.Val625=)
c.2121T>A (p.Val707=)
n.2169T>A
c.2213T>A (n.2213T>A)
c.2073T>A (p.Val691=)
c.1779T>A (p.Val593=)
c.1972T>A (n.1972T>A)
c.2088T>A (n.2088T>A)
c.2169T>A (p.Val723=)
c.1797T>A (p.Val599=)
c.480T>A (p.Val160=)
c.1755T>A (p.Val585=)
c.1086T>A (p.Val362=)
c.951T>A (p.Val317=)
c.1503T>A (p.Val501=)
10g.94594775T>CCA470822526HELLSc.843T>C (p.Val281=)
c.2104T>C (n.2104T>C)
c.2307T>C (p.Val769=)
c.1875T>C (p.Val625=)
c.2121T>C (p.Val707=)
n.2169T>C
c.2213T>C (n.2213T>C)
c.2073T>C (p.Val691=)
c.1779T>C (p.Val593=)
c.1972T>C (n.1972T>C)
c.2088T>C (n.2088T>C)
c.2169T>C (p.Val723=)
c.1797T>C (p.Val599=)
c.480T>C (p.Val160=)
c.1755T>C (p.Val585=)
c.1086T>C (p.Val362=)
c.951T>C (p.Val317=)
c.1503T>C (p.Val501=)
10g.94594775T>GCA470822527HELLSc.843T>G (p.Val281=)
c.2104T>G (n.2104T>G)
c.2307T>G (p.Val769=)
c.1875T>G (p.Val625=)
c.2121T>G (p.Val707=)
n.2169T>G
c.2213T>G (n.2213T>G)
c.2073T>G (p.Val691=)
c.1779T>G (p.Val593=)
c.1972T>G (n.1972T>G)
c.2088T>G (n.2088T>G)
c.2169T>G (p.Val723=)
c.1797T>G (p.Val599=)
c.480T>G (p.Val160=)
c.1755T>G (p.Val585=)
c.1086T>G (p.Val362=)
c.951T>G (p.Val317=)
c.1503T>G (p.Val501=)
10g.94594776A=CA1929136098HELLSc.844A= (p.Thr282=)
c.2105A= (n.2105A=)
c.2308A= (p.Thr770=)
c.1876A= (p.Thr626=)
c.2122A= (p.Thr708=)
n.2170A=
c.2214A= (n.2214A=)
c.2074A= (p.Thr692=)
c.1780A= (p.Thr594=)
c.1973A= (n.1973A=)
c.2089A= (n.2089A=)
c.2170A= (p.Thr724=)
c.1798A= (p.Thr600=)
c.481A= (p.Thr161=)
c.1756A= (p.Thr586=)
c.1087A= (p.Thr363=)
c.952A= (p.Thr318=)
c.1504A= (p.Thr502=)
10g.94594776A>CCA377668014HELLSc.844A>C (p.Thr282Pro)
c.2105A>C (n.2105A>C)
c.2308A>C (p.Thr770Pro)
c.1876A>C (p.Thr626Pro)
c.2122A>C (p.Thr708Pro)
n.2170A>C
c.2214A>C (n.2214A>C)
c.2074A>C (p.Thr692Pro)
c.1780A>C (p.Thr594Pro)
c.1973A>C (n.1973A>C)
c.2089A>C (n.2089A>C)
c.2170A>C (p.Thr724Pro)
c.1798A>C (p.Thr600Pro)
c.481A>C (p.Thr161Pro)
c.1756A>C (p.Thr586Pro)
c.1087A>C (p.Thr363Pro)
c.952A>C (p.Thr318Pro)
c.1504A>C (p.Thr502Pro)
10g.94594776A>GCA377668016HELLSc.844A>G (p.Thr282Ala)
c.2105A>G (n.2105A>G)
c.2308A>G (p.Thr770Ala)
c.1876A>G (p.Thr626Ala)
c.2122A>G (p.Thr708Ala)
n.2170A>G
c.2214A>G (n.2214A>G)
c.2074A>G (p.Thr692Ala)
c.1780A>G (p.Thr594Ala)
c.1973A>G (n.1973A>G)
c.2089A>G (n.2089A>G)
c.2170A>G (p.Thr724Ala)
c.1798A>G (p.Thr600Ala)
c.481A>G (p.Thr161Ala)
c.1756A>G (p.Thr586Ala)
c.1087A>G (p.Thr363Ala)
c.952A>G (p.Thr318Ala)
c.1504A>G (p.Thr502Ala)
 dbSNP
10g.94594776A>TCA377668017HELLSc.844A>T (p.Thr282Ser)
c.2105A>T (n.2105A>T)
c.2308A>T (p.Thr770Ser)
c.1876A>T (p.Thr626Ser)
c.2122A>T (p.Thr708Ser)
n.2170A>T
c.2214A>T (n.2214A>T)
c.2074A>T (p.Thr692Ser)
c.1780A>T (p.Thr594Ser)
c.1973A>T (n.1973A>T)
c.2089A>T (n.2089A>T)
c.2170A>T (p.Thr724Ser)
c.1798A>T (p.Thr600Ser)
c.481A>T (p.Thr161Ser)
c.1756A>T (p.Thr586Ser)
c.1087A>T (p.Thr363Ser)
c.952A>T (p.Thr318Ser)
c.1504A>T (p.Thr502Ser)
10g.94594777C>ACA377668020HELLSc.845C>A (p.Thr282Lys)
c.2106C>A (n.2106C>A)
c.2309C>A (p.Thr770Lys)
c.1877C>A (p.Thr626Lys)
c.2123C>A (p.Thr708Lys)
n.2171C>A
c.2215C>A (n.2215C>A)
c.2075C>A (p.Thr692Lys)
c.1781C>A (p.Thr594Lys)
c.1974C>A (n.1974C>A)
c.2090C>A (n.2090C>A)
c.2171C>A (p.Thr724Lys)
c.1799C>A (p.Thr600Lys)
c.482C>A (p.Thr161Lys)
c.1757C>A (p.Thr586Lys)
c.1088C>A (p.Thr363Lys)
c.953C>A (p.Thr318Lys)
c.1505C>A (p.Thr502Lys)
10g.94594777C>GCA377668022HELLSc.845C>G (p.Thr282Arg)
c.2106C>G (n.2106C>G)
c.2309C>G (p.Thr770Arg)
c.1877C>G (p.Thr626Arg)
c.2123C>G (p.Thr708Arg)
n.2171C>G
c.2215C>G (n.2215C>G)
c.2075C>G (p.Thr692Arg)
c.1781C>G (p.Thr594Arg)
c.1974C>G (n.1974C>G)
c.2090C>G (n.2090C>G)
c.2171C>G (p.Thr724Arg)
c.1799C>G (p.Thr600Arg)
c.482C>G (p.Thr161Arg)
c.1757C>G (p.Thr586Arg)
c.1088C>G (p.Thr363Arg)
c.953C>G (p.Thr318Arg)
c.1505C>G (p.Thr502Arg)
10g.94594777C>TCA377668024HELLSc.845C>T (p.Thr282Ile)
c.2106C>T (n.2106C>T)
c.2309C>T (p.Thr770Ile)
c.1877C>T (p.Thr626Ile)
c.2123C>T (p.Thr708Ile)
n.2171C>T
c.2215C>T (n.2215C>T)
c.2075C>T (p.Thr692Ile)
c.1781C>T (p.Thr594Ile)
c.1974C>T (n.1974C>T)
c.2090C>T (n.2090C>T)
c.2171C>T (p.Thr724Ile)
c.1799C>T (p.Thr600Ile)
c.482C>T (p.Thr161Ile)
c.1757C>T (p.Thr586Ile)
c.1088C>T (p.Thr363Ile)
c.953C>T (p.Thr318Ile)
c.1505C>T (p.Thr502Ile)
10g.94594778A=CA1929136099HELLSc.846A= (p.Thr282=)
c.2107A= (n.2107A=)
c.2310A= (p.Thr770=)
c.1878A= (p.Thr626=)
c.2124A= (p.Thr708=)
n.2172A=
c.2216A= (n.2216A=)
c.2076A= (p.Thr692=)
c.1782A= (p.Thr594=)
c.1975A= (n.1975A=)
c.2091A= (n.2091A=)
c.2172A= (p.Thr724=)
c.1800A= (p.Thr600=)
c.483A= (p.Thr161=)
c.1758A= (p.Thr586=)
c.1089A= (p.Thr363=)
c.954A= (p.Thr318=)
c.1506A= (p.Thr502=)
10g.94594778A>CCA470822529HELLSc.846A>C (p.Thr282=)
c.2107A>C (n.2107A>C)
c.2310A>C (p.Thr770=)
c.1878A>C (p.Thr626=)
c.2124A>C (p.Thr708=)
n.2172A>C
c.2216A>C (n.2216A>C)
c.2076A>C (p.Thr692=)
c.1782A>C (p.Thr594=)
c.1975A>C (n.1975A>C)
c.2091A>C (n.2091A>C)
c.2172A>C (p.Thr724=)
c.1800A>C (p.Thr600=)
c.483A>C (p.Thr161=)
c.1758A>C (p.Thr586=)
c.1089A>C (p.Thr363=)
c.954A>C (p.Thr318=)
c.1506A>C (p.Thr502=)
10g.94594778A>GCA5615663HELLSc.846A>G (p.Thr282=)
c.2107A>G (n.2107A>G)
c.2310A>G (p.Thr770=)
c.1878A>G (p.Thr626=)
c.2124A>G (p.Thr708=)
n.2172A>G
c.2216A>G (n.2216A>G)
c.2076A>G (p.Thr692=)
c.1782A>G (p.Thr594=)
c.1975A>G (n.1975A>G)
c.2091A>G (n.2091A>G)
c.2172A>G (p.Thr724=)
c.1800A>G (p.Thr600=)
c.483A>G (p.Thr161=)
c.1758A>G (p.Thr586=)
c.1089A>G (p.Thr363=)
c.954A>G (p.Thr318=)
c.1506A>G (p.Thr502=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94594778A>TCA470822528HELLSc.846A>T (p.Thr282=)
c.2107A>T (n.2107A>T)
c.2310A>T (p.Thr770=)
c.1878A>T (p.Thr626=)
c.2124A>T (p.Thr708=)
n.2172A>T
c.2216A>T (n.2216A>T)
c.2076A>T (p.Thr692=)
c.1782A>T (p.Thr594=)
c.1975A>T (n.1975A>T)
c.2091A>T (n.2091A>T)
c.2172A>T (p.Thr724=)
c.1800A>T (p.Thr600=)
c.483A>T (p.Thr161=)
c.1758A>T (p.Thr586=)
c.1089A>T (p.Thr363=)
c.954A>T (p.Thr318=)
c.1506A>T (p.Thr502=)
10g.94594779G>ACA377668028HELLSc.847G>A (p.Ala283Thr)
c.2108G>A (n.2108G>A)
c.2311G>A (p.Ala771Thr)
c.1879G>A (p.Ala627Thr)
c.2125G>A (p.Ala709Thr)
n.2173G>A
c.2217G>A (n.2217G>A)
c.2077G>A (p.Ala693Thr)
c.1783G>A (p.Ala595Thr)
c.1976G>A (n.1976G>A)
c.2092G>A (n.2092G>A)
c.2173G>A (p.Ala725Thr)
c.1801G>A (p.Ala601Thr)
c.484G>A (p.Ala162Thr)
c.1759G>A (p.Ala587Thr)
c.1090G>A (p.Ala364Thr)
c.955G>A (p.Ala319Thr)
c.1507G>A (p.Ala503Thr)
10g.94594779G>CCA377668030HELLSc.847G>C (p.Ala283Pro)
c.2108G>C (n.2108G>C)
c.2311G>C (p.Ala771Pro)
c.1879G>C (p.Ala627Pro)
c.2125G>C (p.Ala709Pro)
n.2173G>C
c.2217G>C (n.2217G>C)
c.2077G>C (p.Ala693Pro)
c.1783G>C (p.Ala595Pro)
c.1976G>C (n.1976G>C)
c.2092G>C (n.2092G>C)
c.2173G>C (p.Ala725Pro)
c.1801G>C (p.Ala601Pro)
c.484G>C (p.Ala162Pro)
c.1759G>C (p.Ala587Pro)
c.1090G>C (p.Ala364Pro)
c.955G>C (p.Ala319Pro)
c.1507G>C (p.Ala503Pro)
10g.94594779G>TCA377668032HELLSc.847G>T (p.Ala283Ser)
c.2108G>T (n.2108G>T)
c.2311G>T (p.Ala771Ser)
c.1879G>T (p.Ala627Ser)
c.2125G>T (p.Ala709Ser)
n.2173G>T
c.2217G>T (n.2217G>T)
c.2077G>T (p.Ala693Ser)
c.1783G>T (p.Ala595Ser)
c.1976G>T (n.1976G>T)
c.2092G>T (n.2092G>T)
c.2173G>T (p.Ala725Ser)
c.1801G>T (p.Ala601Ser)
c.484G>T (p.Ala162Ser)
c.1759G>T (p.Ala587Ser)
c.1090G>T (p.Ala364Ser)
c.955G>T (p.Ala319Ser)
c.1507G>T (p.Ala503Ser)
10g.94594780C>ACA377668034HELLSc.848C>A (p.Ala283Glu)
c.2109C>A (n.2109C>A)
c.2312C>A (p.Ala771Glu)
c.1880C>A (p.Ala627Glu)
c.2126C>A (p.Ala709Glu)
n.2174C>A
c.2218C>A (n.2218C>A)
c.2078C>A (p.Ala693Glu)
c.1784C>A (p.Ala595Glu)
c.1977C>A (n.1977C>A)
c.2093C>A (n.2093C>A)
c.2174C>A (p.Ala725Glu)
c.1802C>A (p.Ala601Glu)
c.485C>A (p.Ala162Glu)
c.1760C>A (p.Ala587Glu)
c.1091C>A (p.Ala364Glu)
c.956C>A (p.Ala319Glu)
c.1508C>A (p.Ala503Glu)
10g.94594780C>GCA377668036HELLSc.848C>G (p.Ala283Gly)
c.2109C>G (n.2109C>G)
c.2312C>G (p.Ala771Gly)
c.1880C>G (p.Ala627Gly)
c.2126C>G (p.Ala709Gly)
n.2174C>G
c.2218C>G (n.2218C>G)
c.2078C>G (p.Ala693Gly)
c.1784C>G (p.Ala595Gly)
c.1977C>G (n.1977C>G)
c.2093C>G (n.2093C>G)
c.2174C>G (p.Ala725Gly)
c.1802C>G (p.Ala601Gly)
c.485C>G (p.Ala162Gly)
c.1760C>G (p.Ala587Gly)
c.1091C>G (p.Ala364Gly)
c.956C>G (p.Ala319Gly)
c.1508C>G (p.Ala503Gly)
10g.94594780C>TCA377668038HELLSc.848C>T (p.Ala283Val)
c.2109C>T (n.2109C>T)
c.2312C>T (p.Ala771Val)
c.1880C>T (p.Ala627Val)
c.2126C>T (p.Ala709Val)
n.2174C>T
c.2218C>T (n.2218C>T)
c.2078C>T (p.Ala693Val)
c.1784C>T (p.Ala595Val)
c.1977C>T (n.1977C>T)
c.2093C>T (n.2093C>T)
c.2174C>T (p.Ala725Val)
c.1802C>T (p.Ala601Val)
c.485C>T (p.Ala162Val)
c.1760C>T (p.Ala587Val)
c.1091C>T (p.Ala364Val)
c.956C>T (p.Ala319Val)
c.1508C>T (p.Ala503Val)
10g.94594781A>CCA470822530HELLSc.849A>C (p.Ala283=)
c.2110A>C (n.2110A>C)
c.2313A>C (p.Ala771=)
c.1881A>C (p.Ala627=)
c.2127A>C (p.Ala709=)
n.2175A>C
c.2219A>C (n.2219A>C)
c.2079A>C (p.Ala693=)
c.1785A>C (p.Ala595=)
c.1978A>C (n.1978A>C)
c.2094A>C (n.2094A>C)
c.2175A>C (p.Ala725=)
c.1803A>C (p.Ala601=)
c.486A>C (p.Ala162=)
c.1761A>C (p.Ala587=)
c.1092A>C (p.Ala364=)
c.957A>C (p.Ala319=)
c.1509A>C (p.Ala503=)
10g.94594781A>GCA470822531HELLSc.849A>G (p.Ala283=)
c.2110A>G (n.2110A>G)
c.2313A>G (p.Ala771=)
c.1881A>G (p.Ala627=)
c.2127A>G (p.Ala709=)
n.2175A>G
c.2219A>G (n.2219A>G)
c.2079A>G (p.Ala693=)
c.1785A>G (p.Ala595=)
c.1978A>G (n.1978A>G)
c.2094A>G (n.2094A>G)
c.2175A>G (p.Ala725=)
c.1803A>G (p.Ala601=)
c.486A>G (p.Ala162=)
c.1761A>G (p.Ala587=)
c.1092A>G (p.Ala364=)
c.957A>G (p.Ala319=)
c.1509A>G (p.Ala503=)
10g.94594781A>TCA470822532HELLSc.849A>T (p.Ala283=)
c.2110A>T (n.2110A>T)
c.2313A>T (p.Ala771=)
c.1881A>T (p.Ala627=)
c.2127A>T (p.Ala709=)
n.2175A>T
c.2219A>T (n.2219A>T)
c.2079A>T (p.Ala693=)
c.1785A>T (p.Ala595=)
c.1978A>T (n.1978A>T)
c.2094A>T (n.2094A>T)
c.2175A>T (p.Ala725=)
c.1803A>T (p.Ala601=)
c.486A>T (p.Ala162=)
c.1761A>T (p.Ala587=)
c.1092A>T (p.Ala364=)
c.957A>T (p.Ala319=)
c.1509A>T (p.Ala503=)
10g.94594782A=CA1929136100HELLSc.850A= (p.Asn284=)
c.2111A= (n.2111A=)
c.2314A= (p.Asn772=)
c.1882A= (p.Asn628=)
c.2128A= (p.Asn710=)
n.2176A=
c.2220A= (n.2220A=)
c.2080A= (p.Asn694=)
c.1786A= (p.Asn596=)
c.1979A= (n.1979A=)
c.2095A= (n.2095A=)
c.2176A= (p.Asn726=)
c.1804A= (p.Asn602=)
c.487A= (p.Asn163=)
c.1762A= (p.Asn588=)
c.1093A= (p.Asn365=)
c.958A= (p.Asn320=)
c.1510A= (p.Asn504=)
10g.94594782A>CCA377668045HELLSc.850A>C (p.Asn284His)
c.2111A>C (n.2111A>C)
c.2314A>C (p.Asn772His)
c.1882A>C (p.Asn628His)
c.2128A>C (p.Asn710His)
n.2176A>C
c.2220A>C (n.2220A>C)
c.2080A>C (p.Asn694His)
c.1786A>C (p.Asn596His)
c.1979A>C (n.1979A>C)
c.2095A>C (n.2095A>C)
c.2176A>C (p.Asn726His)
c.1804A>C (p.Asn602His)
c.487A>C (p.Asn163His)
c.1762A>C (p.Asn588His)
c.1093A>C (p.Asn365His)
c.958A>C (p.Asn320His)
c.1510A>C (p.Asn504His)
10g.94594782A>GCA5615664HELLSc.850A>G (p.Asn284Asp)
c.2111A>G (n.2111A>G)
c.2314A>G (p.Asn772Asp)
c.1882A>G (p.Asn628Asp)
c.2128A>G (p.Asn710Asp)
n.2176A>G
c.2220A>G (n.2220A>G)
c.2080A>G (p.Asn694Asp)
c.1786A>G (p.Asn596Asp)
c.1979A>G (n.1979A>G)
c.2095A>G (n.2095A>G)
c.2176A>G (p.Asn726Asp)
c.1804A>G (p.Asn602Asp)
c.487A>G (p.Asn163Asp)
c.1762A>G (p.Asn588Asp)
c.1093A>G (p.Asn365Asp)
c.958A>G (p.Asn320Asp)
c.1510A>G (p.Asn504Asp)
 dbSNP ExAC gnomAD v2
10g.94594782A>TCA377668041HELLSc.850A>T (p.Asn284Tyr)
c.2111A>T (n.2111A>T)
c.2314A>T (p.Asn772Tyr)
c.1882A>T (p.Asn628Tyr)
c.2128A>T (p.Asn710Tyr)
n.2176A>T
c.2220A>T (n.2220A>T)
c.2080A>T (p.Asn694Tyr)
c.1786A>T (p.Asn596Tyr)
c.1979A>T (n.1979A>T)
c.2095A>T (n.2095A>T)
c.2176A>T (p.Asn726Tyr)
c.1804A>T (p.Asn602Tyr)
c.487A>T (p.Asn163Tyr)
c.1762A>T (p.Asn588Tyr)
c.1093A>T (p.Asn365Tyr)
c.958A>T (p.Asn320Tyr)
c.1510A>T (p.Asn504Tyr)
10g.94594783A>CCA377668047HELLSc.851A>C (p.Asn284Thr)
c.2112A>C (n.2112A>C)
c.2315A>C (p.Asn772Thr)
c.1883A>C (p.Asn628Thr)
c.2129A>C (p.Asn710Thr)
n.2177A>C
c.2221A>C (n.2221A>C)
c.2081A>C (p.Asn694Thr)
c.1787A>C (p.Asn596Thr)
c.1980A>C (n.1980A>C)
c.2096A>C (n.2096A>C)
c.2177A>C (p.Asn726Thr)
c.1805A>C (p.Asn602Thr)
c.488A>C (p.Asn163Thr)
c.1763A>C (p.Asn588Thr)
c.1094A>C (p.Asn365Thr)
c.959A>C (p.Asn320Thr)
c.1511A>C (p.Asn504Thr)
10g.94594783A>GCA377668052HELLSc.851A>G (p.Asn284Ser)
c.2112A>G (n.2112A>G)
c.2315A>G (p.Asn772Ser)
c.1883A>G (p.Asn628Ser)
c.2129A>G (p.Asn710Ser)
n.2177A>G
c.2221A>G (n.2221A>G)
c.2081A>G (p.Asn694Ser)
c.1787A>G (p.Asn596Ser)
c.1980A>G (n.1980A>G)
c.2096A>G (n.2096A>G)
c.2177A>G (p.Asn726Ser)
c.1805A>G (p.Asn602Ser)
c.488A>G (p.Asn163Ser)
c.1763A>G (p.Asn588Ser)
c.1094A>G (p.Asn365Ser)
c.959A>G (p.Asn320Ser)
c.1511A>G (p.Asn504Ser)
10g.94594783A>TCA377668054HELLSc.851A>T (p.Asn284Ile)
c.2112A>T (n.2112A>T)
c.2315A>T (p.Asn772Ile)
c.1883A>T (p.Asn628Ile)
c.2129A>T (p.Asn710Ile)
n.2177A>T
c.2221A>T (n.2221A>T)
c.2081A>T (p.Asn694Ile)
c.1787A>T (p.Asn596Ile)
c.1980A>T (n.1980A>T)
c.2096A>T (n.2096A>T)
c.2177A>T (p.Asn726Ile)
c.1805A>T (p.Asn602Ile)
c.488A>T (p.Asn163Ile)
c.1763A>T (p.Asn588Ile)
c.1094A>T (p.Asn365Ile)
c.959A>T (p.Asn320Ile)
c.1511A>T (p.Asn504Ile)
10g.94594784T>ACA377668057HELLSc.852T>A (p.Asn284Lys)
c.2113T>A (n.2113T>A)
c.2316T>A (p.Asn772Lys)
c.1884T>A (p.Asn628Lys)
c.2130T>A (p.Asn710Lys)
n.2178T>A
c.2222T>A (n.2222T>A)
c.2082T>A (p.Asn694Lys)
c.1788T>A (p.Asn596Lys)
c.1981T>A (n.1981T>A)
c.2097T>A (n.2097T>A)
c.2178T>A (p.Asn726Lys)
c.1806T>A (p.Asn602Lys)
c.489T>A (p.Asn163Lys)
c.1764T>A (p.Asn588Lys)
c.1095T>A (p.Asn365Lys)
c.960T>A (p.Asn320Lys)
c.1512T>A (p.Asn504Lys)
10g.94594784T>CCA470822533HELLSc.852T>C (p.Asn284=)
c.2113T>C (n.2113T>C)
c.2316T>C (p.Asn772=)
c.1884T>C (p.Asn628=)
c.2130T>C (p.Asn710=)
n.2178T>C
c.2222T>C (n.2222T>C)
c.2082T>C (p.Asn694=)
c.1788T>C (p.Asn596=)
c.1981T>C (n.1981T>C)
c.2097T>C (n.2097T>C)
c.2178T>C (p.Asn726=)
c.1806T>C (p.Asn602=)
c.489T>C (p.Asn163=)
c.1764T>C (p.Asn588=)
c.1095T>C (p.Asn365=)
c.960T>C (p.Asn320=)
c.1512T>C (p.Asn504=)
10g.94594784T>GCA377668058HELLSc.852T>G (p.Asn284Lys)
c.2113T>G (n.2113T>G)
c.2316T>G (p.Asn772Lys)
c.1884T>G (p.Asn628Lys)
c.2130T>G (p.Asn710Lys)
n.2178T>G
c.2222T>G (n.2222T>G)
c.2082T>G (p.Asn694Lys)
c.1788T>G (p.Asn596Lys)
c.1981T>G (n.1981T>G)
c.2097T>G (n.2097T>G)
c.2178T>G (p.Asn726Lys)
c.1806T>G (p.Asn602Lys)
c.489T>G (p.Asn163Lys)
c.1764T>G (p.Asn588Lys)
c.1095T>G (p.Asn365Lys)
c.960T>G (p.Asn320Lys)
c.1512T>G (p.Asn504Lys)
10g.94594785A=CA1929136101HELLSc.853A= (p.Thr285=)
c.2114A= (n.2114A=)
c.2317A= (p.Thr773=)
c.1885A= (p.Thr629=)
c.2131A= (p.Thr711=)
n.2179A=
c.2223A= (n.2223A=)
c.2083A= (p.Thr695=)
c.1789A= (p.Thr597=)
c.1982A= (n.1982A=)
c.2098A= (n.2098A=)
c.2179A= (p.Thr727=)
c.1807A= (p.Thr603=)
c.490A= (p.Thr164=)
c.1765A= (p.Thr589=)
c.1096A= (p.Thr366=)
c.961A= (p.Thr321=)
c.1513A= (p.Thr505=)
10g.94594785A>CCA377668060HELLSc.853A>C (p.Thr285Pro)
c.2114A>C (n.2114A>C)
c.2317A>C (p.Thr773Pro)
c.1885A>C (p.Thr629Pro)
c.2131A>C (p.Thr711Pro)
n.2179A>C
c.2223A>C (n.2223A>C)
c.2083A>C (p.Thr695Pro)
c.1789A>C (p.Thr597Pro)
c.1982A>C (n.1982A>C)
c.2098A>C (n.2098A>C)
c.2179A>C (p.Thr727Pro)
c.1807A>C (p.Thr603Pro)
c.490A>C (p.Thr164Pro)
c.1765A>C (p.Thr589Pro)
c.1096A>C (p.Thr366Pro)
c.961A>C (p.Thr321Pro)
c.1513A>C (p.Thr505Pro)
10g.94594785A>GCA5615665HELLSc.853A>G (p.Thr285Ala)
c.2114A>G (n.2114A>G)
c.2317A>G (p.Thr773Ala)
c.1885A>G (p.Thr629Ala)
c.2131A>G (p.Thr711Ala)
n.2179A>G
c.2223A>G (n.2223A>G)
c.2083A>G (p.Thr695Ala)
c.1789A>G (p.Thr597Ala)
c.1982A>G (n.1982A>G)
c.2098A>G (n.2098A>G)
c.2179A>G (p.Thr727Ala)
c.1807A>G (p.Thr603Ala)
c.490A>G (p.Thr164Ala)
c.1765A>G (p.Thr589Ala)
c.1096A>G (p.Thr366Ala)
c.961A>G (p.Thr321Ala)
c.1513A>G (p.Thr505Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.94594785A>TCA377668062HELLSc.853A>T (p.Thr285Ser)
c.2114A>T (n.2114A>T)
c.2317A>T (p.Thr773Ser)
c.1885A>T (p.Thr629Ser)
c.2131A>T (p.Thr711Ser)
n.2179A>T
c.2223A>T (n.2223A>T)
c.2083A>T (p.Thr695Ser)
c.1789A>T (p.Thr597Ser)
c.1982A>T (n.1982A>T)
c.2098A>T (n.2098A>T)
c.2179A>T (p.Thr727Ser)
c.1807A>T (p.Thr603Ser)
c.490A>T (p.Thr164Ser)
c.1765A>T (p.Thr589Ser)
c.1096A>T (p.Thr366Ser)
c.961A>T (p.Thr321Ser)
c.1513A>T (p.Thr505Ser)
10g.94594786C>ACA377668065HELLSc.854C>A (p.Thr285Asn)
c.2115C>A (n.2115C>A)
c.2318C>A (p.Thr773Asn)
c.1886C>A (p.Thr629Asn)
c.2132C>A (p.Thr711Asn)
n.2180C>A
c.2224C>A (n.2224C>A)
c.2084C>A (p.Thr695Asn)
c.1790C>A (p.Thr597Asn)
c.1983C>A (n.1983C>A)
c.2099C>A (n.2099C>A)
c.2180C>A (p.Thr727Asn)
c.1808C>A (p.Thr603Asn)
c.491C>A (p.Thr164Asn)
c.1766C>A (p.Thr589Asn)
c.1097C>A (p.Thr366Asn)
c.962C>A (p.Thr321Asn)
c.1514C>A (p.Thr505Asn)
10g.94594786C>GCA377668067HELLSc.854C>G (p.Thr285Ser)
c.2115C>G (n.2115C>G)
c.2318C>G (p.Thr773Ser)
c.1886C>G (p.Thr629Ser)
c.2132C>G (p.Thr711Ser)
n.2180C>G
c.2224C>G (n.2224C>G)
c.2084C>G (p.Thr695Ser)
c.1790C>G (p.Thr597Ser)
c.1983C>G (n.1983C>G)
c.2099C>G (n.2099C>G)
c.2180C>G (p.Thr727Ser)
c.1808C>G (p.Thr603Ser)
c.491C>G (p.Thr164Ser)
c.1766C>G (p.Thr589Ser)
c.1097C>G (p.Thr366Ser)
c.962C>G (p.Thr321Ser)
c.1514C>G (p.Thr505Ser)
10g.94594786C>TCA377668068HELLSc.854C>T (p.Thr285Ile)
c.2115C>T (n.2115C>T)
c.2318C>T (p.Thr773Ile)
c.1886C>T (p.Thr629Ile)
c.2132C>T (p.Thr711Ile)
n.2180C>T
c.2224C>T (n.2224C>T)
c.2084C>T (p.Thr695Ile)
c.1790C>T (p.Thr597Ile)
c.1983C>T (n.1983C>T)
c.2099C>T (n.2099C>T)
c.2180C>T (p.Thr727Ile)
c.1808C>T (p.Thr603Ile)
c.491C>T (p.Thr164Ile)
c.1766C>T (p.Thr589Ile)
c.1097C>T (p.Thr366Ile)
c.962C>T (p.Thr321Ile)
c.1514C>T (p.Thr505Ile)
10g.94594787T>ACA470822534HELLSc.855T>A (p.Thr285=)
c.2116T>A (n.2116T>A)
c.2319T>A (p.Thr773=)
c.1887T>A (p.Thr629=)
c.2133T>A (p.Thr711=)
n.2181T>A
c.2225T>A (n.2225T>A)
c.2085T>A (p.Thr695=)
c.1791T>A (p.Thr597=)
c.1984T>A (n.1984T>A)
c.2100T>A (n.2100T>A)
c.2181T>A (p.Thr727=)
c.1809T>A (p.Thr603=)
c.492T>A (p.Thr164=)
c.1767T>A (p.Thr589=)
c.1098T>A (p.Thr366=)
c.963T>A (p.Thr321=)
c.1515T>A (p.Thr505=)
10g.94594787T>CCA470822535HELLSc.855T>C (p.Thr285=)
c.2116T>C (n.2116T>C)
c.2319T>C (p.Thr773=)
c.1887T>C (p.Thr629=)
c.2133T>C (p.Thr711=)
n.2181T>C
c.2225T>C (n.2225T>C)
c.2085T>C (p.Thr695=)
c.1791T>C (p.Thr597=)
c.1984T>C (n.1984T>C)
c.2100T>C (n.2100T>C)
c.2181T>C (p.Thr727=)
c.1809T>C (p.Thr603=)
c.492T>C (p.Thr164=)
c.1767T>C (p.Thr589=)
c.1098T>C (p.Thr366=)
c.963T>C (p.Thr321=)
c.1515T>C (p.Thr505=)
 gnomAD v4
10g.94594787T>GCA470822536HELLSc.855T>G (p.Thr285=)
c.2116T>G (n.2116T>G)
c.2319T>G (p.Thr773=)
c.1887T>G (p.Thr629=)
c.2133T>G (p.Thr711=)
n.2181T>G
c.2225T>G (n.2225T>G)
c.2085T>G (p.Thr695=)
c.1791T>G (p.Thr597=)
c.1984T>G (n.1984T>G)
c.2100T>G (n.2100T>G)
c.2181T>G (p.Thr727=)
c.1809T>G (p.Thr603=)
c.492T>G (p.Thr164=)
c.1767T>G (p.Thr589=)
c.1098T>G (p.Thr366=)
c.963T>G (p.Thr321=)
c.1515T>G (p.Thr505=)
10g.94594788A=CA1929136102HELLSc.856A= (p.Ile286=)
c.2117A= (n.2117A=)
c.2320A= (p.Ile774=)
c.1888A= (p.Ile630=)
c.2134A= (p.Ile712=)
n.2182A=
c.2226A= (n.2226A=)
c.2086A= (p.Ile696=)
c.1792A= (p.Ile598=)
c.1985A= (n.1985A=)
c.2101A= (n.2101A=)
c.2182A= (p.Ile728=)
c.1810A= (p.Ile604=)
c.493A= (p.Ile165=)
c.1768A= (p.Ile590=)
c.1099A= (p.Ile367=)
c.964A= (p.Ile322=)
c.1516A= (p.Ile506=)
10g.94594788A>CCA377668069HELLSc.856A>C (p.Ile286Leu)
c.2117A>C (n.2117A>C)
c.2320A>C (p.Ile774Leu)
c.1888A>C (p.Ile630Leu)
c.2134A>C (p.Ile712Leu)
n.2182A>C
c.2226A>C (n.2226A>C)
c.2086A>C (p.Ile696Leu)
c.1792A>C (p.Ile598Leu)
c.1985A>C (n.1985A>C)
c.2101A>C (n.2101A>C)
c.2182A>C (p.Ile728Leu)
c.1810A>C (p.Ile604Leu)
c.493A>C (p.Ile165Leu)
c.1768A>C (p.Ile590Leu)
c.1099A>C (p.Ile367Leu)
c.964A>C (p.Ile322Leu)
c.1516A>C (p.Ile506Leu)
10g.94594788A>GCA5615666HELLSc.856A>G (p.Ile286Val)
c.2117A>G (n.2117A>G)
c.2320A>G (p.Ile774Val)
c.1888A>G (p.Ile630Val)
c.2134A>G (p.Ile712Val)
n.2182A>G
c.2226A>G (n.2226A>G)
c.2086A>G (p.Ile696Val)
c.1792A>G (p.Ile598Val)
c.1985A>G (n.1985A>G)
c.2101A>G (n.2101A>G)
c.2182A>G (p.Ile728Val)
c.1810A>G (p.Ile604Val)
c.493A>G (p.Ile165Val)
c.1768A>G (p.Ile590Val)
c.1099A>G (p.Ile367Val)
c.964A>G (p.Ile322Val)
c.1516A>G (p.Ile506Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94594788A>TCA377668070HELLSc.856A>T (p.Ile286Phe)
c.2117A>T (n.2117A>T)
c.2320A>T (p.Ile774Phe)
c.1888A>T (p.Ile630Phe)
c.2134A>T (p.Ile712Phe)
n.2182A>T
c.2226A>T (n.2226A>T)
c.2086A>T (p.Ile696Phe)
c.1792A>T (p.Ile598Phe)
c.1985A>T (n.1985A>T)
c.2101A>T (n.2101A>T)
c.2182A>T (p.Ile728Phe)
c.1810A>T (p.Ile604Phe)
c.493A>T (p.Ile165Phe)
c.1768A>T (p.Ile590Phe)
c.1099A>T (p.Ile367Phe)
c.964A>T (p.Ile322Phe)
c.1516A>T (p.Ile506Phe)
10g.94594789T>ACA377668077HELLSc.857T>A (p.Ile286Asn)
c.2118T>A (n.2118T>A)
c.2321T>A (p.Ile774Asn)
c.1889T>A (p.Ile630Asn)
c.2135T>A (p.Ile712Asn)
n.2183T>A
c.2227T>A (n.2227T>A)
c.2087T>A (p.Ile696Asn)
c.1793T>A (p.Ile598Asn)
c.1986T>A (n.1986T>A)
c.2102T>A (n.2102T>A)
c.2183T>A (p.Ile728Asn)
c.1811T>A (p.Ile604Asn)
c.494T>A (p.Ile165Asn)
c.1769T>A (p.Ile590Asn)
c.1100T>A (p.Ile367Asn)
c.965T>A (p.Ile322Asn)
c.1517T>A (p.Ile506Asn)
10g.94594789T>CCA377668075HELLSc.857T>C (p.Ile286Thr)
c.2118T>C (n.2118T>C)
c.2321T>C (p.Ile774Thr)
c.1889T>C (p.Ile630Thr)
c.2135T>C (p.Ile712Thr)
n.2183T>C
c.2227T>C (n.2227T>C)
c.2087T>C (p.Ile696Thr)
c.1793T>C (p.Ile598Thr)
c.1986T>C (n.1986T>C)
c.2102T>C (n.2102T>C)
c.2183T>C (p.Ile728Thr)
c.1811T>C (p.Ile604Thr)
c.494T>C (p.Ile165Thr)
c.1769T>C (p.Ile590Thr)
c.1100T>C (p.Ile367Thr)
c.965T>C (p.Ile322Thr)
c.1517T>C (p.Ile506Thr)
10g.94594789T>GCA377668073HELLSc.857T>G (p.Ile286Ser)
c.2118T>G (n.2118T>G)
c.2321T>G (p.Ile774Ser)
c.1889T>G (p.Ile630Ser)
c.2135T>G (p.Ile712Ser)
n.2183T>G
c.2227T>G (n.2227T>G)
c.2087T>G (p.Ile696Ser)
c.1793T>G (p.Ile598Ser)
c.1986T>G (n.1986T>G)
c.2102T>G (n.2102T>G)
c.2183T>G (p.Ile728Ser)
c.1811T>G (p.Ile604Ser)
c.494T>G (p.Ile165Ser)
c.1769T>G (p.Ile590Ser)
c.1100T>G (p.Ile367Ser)
c.965T>G (p.Ile322Ser)
c.1517T>G (p.Ile506Ser)
10g.94594790C>ACA470822537HELLSc.858C>A (p.Ile286=)
c.2119C>A (n.2119C>A)
c.2322C>A (p.Ile774=)
c.1890C>A (p.Ile630=)
c.2136C>A (p.Ile712=)
n.2184C>A
c.2228C>A (n.2228C>A)
c.2088C>A (p.Ile696=)
c.1794C>A (p.Ile598=)
c.1987C>A (n.1987C>A)
c.2103C>A (n.2103C>A)
c.2184C>A (p.Ile728=)
c.1812C>A (p.Ile604=)
c.495C>A (p.Ile165=)
c.1770C>A (p.Ile590=)
c.1101C>A (p.Ile367=)
c.966C>A (p.Ile322=)
c.1518C>A (p.Ile506=)
10g.94594790C=CA1929136103HELLSc.858C= (p.Ile286=)
c.2119C= (n.2119C=)
c.2322C= (p.Ile774=)
c.1890C= (p.Ile630=)
c.2136C= (p.Ile712=)
n.2184C=
c.2228C= (n.2228C=)
c.2088C= (p.Ile696=)
c.1794C= (p.Ile598=)
c.1987C= (n.1987C=)
c.2103C= (n.2103C=)
c.2184C= (p.Ile728=)
c.1812C= (p.Ile604=)
c.495C= (p.Ile165=)
c.1770C= (p.Ile590=)
c.1101C= (p.Ile367=)
c.966C= (p.Ile322=)
c.1518C= (p.Ile506=)
10g.94594790C>GCA377668080HELLSc.858C>G (p.Ile286Met)
c.2119C>G (n.2119C>G)
c.2322C>G (p.Ile774Met)
c.1890C>G (p.Ile630Met)
c.2136C>G (p.Ile712Met)
n.2184C>G
c.2228C>G (n.2228C>G)
c.2088C>G (p.Ile696Met)
c.1794C>G (p.Ile598Met)
c.1987C>G (n.1987C>G)
c.2103C>G (n.2103C>G)
c.2184C>G (p.Ile728Met)
c.1812C>G (p.Ile604Met)
c.495C>G (p.Ile165Met)
c.1770C>G (p.Ile590Met)
c.1101C>G (p.Ile367Met)
c.966C>G (p.Ile322Met)
c.1518C>G (p.Ile506Met)
10g.94594790C>TCA5615667HELLSc.858C>T (p.Ile286=)
c.2119C>T (n.2119C>T)
c.2322C>T (p.Ile774=)
c.1890C>T (p.Ile630=)
c.2136C>T (p.Ile712=)
n.2184C>T
c.2228C>T (n.2228C>T)
c.2088C>T (p.Ile696=)
c.1794C>T (p.Ile598=)
c.1987C>T (n.1987C>T)
c.2103C>T (n.2103C>T)
c.2184C>T (p.Ile728=)
c.1812C>T (p.Ile604=)
c.495C>T (p.Ile165=)
c.1770C>T (p.Ile590=)
c.1101C>T (p.Ile367=)
c.966C>T (p.Ile322=)
c.1518C>T (p.Ile506=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.94594790_94594791insATACA2610258012HELLSc.858_859insATA (p.Ile286_Asp287insIle)
c.2119_2120insATA (n.2119_2120insATA)
c.2322_2323insATA (p.Ile774_Asp775insIle)
c.1890_1891insATA (p.Ile630_Asp631insIle)
c.2136_2137insATA (p.Ile712_Asp713insIle)
n.2184_2185insATA
c.2228_2229insATA (n.2228_2229insATA)
c.2088_2089insATA (p.Ile696_Asp697insIle)
c.1794_1795insATA (p.Ile598_Asp599insIle)
c.1987_1988insATA (n.1987_1988insATA)
c.2103_2104insATA (n.2103_2104insATA)
c.2184_2185insATA (p.Ile728_Asp729insIle)
c.1812_1813insATA (p.Ile604_Asp605insIle)
c.495_496insATA (p.Ile165_Asp166insIle)
c.1770_1771insATA (p.Ile590_Asp591insIle)
c.1101_1102insATA (p.Ile367_Asp368insIle)
c.966_967insATA (p.Ile322_Asp323insIle)
c.1518_1519insATA (p.Ile506_Asp507insIle)
 gnomAD v4
10g.94594791G>ACA377668082HELLSc.859G>A (p.Asp287Asn)
c.2120G>A (n.2120G>A)
c.2323G>A (p.Asp775Asn)
c.1891G>A (p.Asp631Asn)
c.2137G>A (p.Asp713Asn)
n.2185G>A
c.2229G>A (n.2229G>A)
c.2089G>A (p.Asp697Asn)
c.1795G>A (p.Asp599Asn)
c.1988G>A (n.1988G>A)
c.2104G>A (n.2104G>A)
c.2185G>A (p.Asp729Asn)
c.1813G>A (p.Asp605Asn)
c.496G>A (p.Asp166Asn)
c.1771G>A (p.Asp591Asn)
c.1102G>A (p.Asp368Asn)
c.967G>A (p.Asp323Asn)
c.1519G>A (p.Asp507Asn)
 COSMIC
10g.94594791G>CCA377668084HELLSc.859G>C (p.Asp287His)
c.2120G>C (n.2120G>C)
c.2323G>C (p.Asp775His)
c.1891G>C (p.Asp631His)
c.2137G>C (p.Asp713His)
n.2185G>C
c.2229G>C (n.2229G>C)
c.2089G>C (p.Asp697His)
c.1795G>C (p.Asp599His)
c.1988G>C (n.1988G>C)
c.2104G>C (n.2104G>C)
c.2185G>C (p.Asp729His)
c.1813G>C (p.Asp605His)
c.496G>C (p.Asp166His)
c.1771G>C (p.Asp591His)
c.1102G>C (p.Asp368His)
c.967G>C (p.Asp323His)
c.1519G>C (p.Asp507His)
10g.94594791G>TCA377668086HELLSc.859G>T (p.Asp287Tyr)
c.2120G>T (n.2120G>T)
c.2323G>T (p.Asp775Tyr)
c.1891G>T (p.Asp631Tyr)
c.2137G>T (p.Asp713Tyr)
n.2185G>T
c.2229G>T (n.2229G>T)
c.2089G>T (p.Asp697Tyr)
c.1795G>T (p.Asp599Tyr)
c.1988G>T (n.1988G>T)
c.2104G>T (n.2104G>T)
c.2185G>T (p.Asp729Tyr)
c.1813G>T (p.Asp605Tyr)
c.496G>T (p.Asp166Tyr)
c.1771G>T (p.Asp591Tyr)
c.1102G>T (p.Asp368Tyr)
c.967G>T (p.Asp323Tyr)
c.1519G>T (p.Asp507Tyr)
10g.94594792A>CCA377668089HELLSc.860A>C (p.Asp287Ala)
c.2121A>C (n.2121A>C)
c.2324A>C (p.Asp775Ala)
c.1892A>C (p.Asp631Ala)
c.2138A>C (p.Asp713Ala)
n.2186A>C
c.2230A>C (n.2230A>C)
c.2090A>C (p.Asp697Ala)
c.1796A>C (p.Asp599Ala)
c.1989A>C (n.1989A>C)
c.2105A>C (n.2105A>C)
c.2186A>C (p.Asp729Ala)
c.1814A>C (p.Asp605Ala)
c.497A>C (p.Asp166Ala)
c.1772A>C (p.Asp591Ala)
c.1103A>C (p.Asp368Ala)
c.968A>C (p.Asp323Ala)
c.1520A>C (p.Asp507Ala)
10g.94594792A>GCA377668091HELLSc.860A>G (p.Asp287Gly)
c.2121A>G (n.2121A>G)
c.2324A>G (p.Asp775Gly)
c.1892A>G (p.Asp631Gly)
c.2138A>G (p.Asp713Gly)
n.2186A>G
c.2230A>G (n.2230A>G)
c.2090A>G (p.Asp697Gly)
c.1796A>G (p.Asp599Gly)
c.1989A>G (n.1989A>G)
c.2105A>G (n.2105A>G)
c.2186A>G (p.Asp729Gly)
c.1814A>G (p.Asp605Gly)
c.497A>G (p.Asp166Gly)
c.1772A>G (p.Asp591Gly)
c.1103A>G (p.Asp368Gly)
c.968A>G (p.Asp323Gly)
c.1520A>G (p.Asp507Gly)
10g.94594792A>TCA377668093HELLSc.860A>T (p.Asp287Val)
c.2121A>T (n.2121A>T)
c.2324A>T (p.Asp775Val)
c.1892A>T (p.Asp631Val)
c.2138A>T (p.Asp713Val)
n.2186A>T
c.2230A>T (n.2230A>T)
c.2090A>T (p.Asp697Val)
c.1796A>T (p.Asp599Val)
c.1989A>T (n.1989A>T)
c.2105A>T (n.2105A>T)
c.2186A>T (p.Asp729Val)
c.1814A>T (p.Asp605Val)
c.497A>T (p.Asp166Val)
c.1772A>T (p.Asp591Val)
c.1103A>T (p.Asp368Val)
c.968A>T (p.Asp323Val)
c.1520A>T (p.Asp507Val)
10g.94594793T>ACA377668096HELLSc.861T>A (p.Asp287Glu)
c.2122T>A (n.2122T>A)
c.2325T>A (p.Asp775Glu)
c.1893T>A (p.Asp631Glu)
c.2139T>A (p.Asp713Glu)
n.2187T>A
c.2231T>A (n.2231T>A)
c.2091T>A (p.Asp697Glu)
c.1797T>A (p.Asp599Glu)
c.1990T>A (n.1990T>A)
c.2106T>A (n.2106T>A)
c.2187T>A (p.Asp729Glu)
c.1815T>A (p.Asp605Glu)
c.498T>A (p.Asp166Glu)
c.1773T>A (p.Asp591Glu)
c.1104T>A (p.Asp368Glu)
c.969T>A (p.Asp323Glu)
c.1521T>A (p.Asp507Glu)
10g.94594793T>CCA470822539HELLSc.861T>C (p.Asp287=)
c.2122T>C (n.2122T>C)
c.2325T>C (p.Asp775=)
c.1893T>C (p.Asp631=)
c.2139T>C (p.Asp713=)
n.2187T>C
c.2231T>C (n.2231T>C)
c.2091T>C (p.Asp697=)
c.1797T>C (p.Asp599=)
c.1990T>C (n.1990T>C)
c.2106T>C (n.2106T>C)
c.2187T>C (p.Asp729=)
c.1815T>C (p.Asp605=)
c.498T>C (p.Asp166=)
c.1773T>C (p.Asp591=)
c.1104T>C (p.Asp368=)
c.969T>C (p.Asp323=)
c.1521T>C (p.Asp507=)
 gnomAD v4
10g.94594793T>GCA377668098HELLSc.861T>G (p.Asp287Glu)
c.2122T>G (n.2122T>G)
c.2325T>G (p.Asp775Glu)
c.1893T>G (p.Asp631Glu)
c.2139T>G (p.Asp713Glu)
n.2187T>G
c.2231T>G (n.2231T>G)
c.2091T>G (p.Asp697Glu)
c.1797T>G (p.Asp599Glu)
c.1990T>G (n.1990T>G)
c.2106T>G (n.2106T>G)
c.2187T>G (p.Asp729Glu)
c.1815T>G (p.Asp605Glu)
c.498T>G (p.Asp166Glu)
c.1773T>G (p.Asp591Glu)
c.1104T>G (p.Asp368Glu)
c.969T>G (p.Asp323Glu)
c.1521T>G (p.Asp507Glu)
10g.94594794C>ACA377668101HELLSc.862C>A (p.Gln288Lys)
c.2123C>A (n.2123C>A)
c.2326C>A (p.Gln776Lys)
c.1894C>A (p.Gln632Lys)
c.2140C>A (p.Gln714Lys)
n.2188C>A
c.2232C>A (n.2232C>A)
c.2092C>A (p.Gln698Lys)
c.1798C>A (p.Gln600Lys)
c.1991C>A (n.1991C>A)
c.2107C>A (n.2107C>A)
c.2188C>A (p.Gln730Lys)
c.1816C>A (p.Gln606Lys)
c.499C>A (p.Gln167Lys)
c.1774C>A (p.Gln592Lys)
c.1105C>A (p.Gln369Lys)
c.970C>A (p.Gln324Lys)
c.1522C>A (p.Gln508Lys)
10g.94594794C>GCA377668102HELLSc.862C>G (p.Gln288Glu)
c.2123C>G (n.2123C>G)
c.2326C>G (p.Gln776Glu)
c.1894C>G (p.Gln632Glu)
c.2140C>G (p.Gln714Glu)
n.2188C>G
c.2232C>G (n.2232C>G)
c.2092C>G (p.Gln698Glu)
c.1798C>G (p.Gln600Glu)
c.1991C>G (n.1991C>G)
c.2107C>G (n.2107C>G)
c.2188C>G (p.Gln730Glu)
c.1816C>G (p.Gln606Glu)
c.499C>G (p.Gln167Glu)
c.1774C>G (p.Gln592Glu)
c.1105C>G (p.Gln369Glu)
c.970C>G (p.Gln324Glu)
c.1522C>G (p.Gln508Glu)
10g.94594794C>TCA377668105HELLSc.862C>T (p.Gln288Ter)
c.2123C>T (n.2123C>T)
c.2326C>T (p.Gln776Ter)
c.1894C>T (p.Gln632Ter)
c.2140C>T (p.Gln714Ter)
n.2188C>T
c.2232C>T (n.2232C>T)
c.2092C>T (p.Gln698Ter)
c.1798C>T (p.Gln600Ter)
c.1991C>T (n.1991C>T)
c.2107C>T (n.2107C>T)
c.2188C>T (p.Gln730Ter)
c.1816C>T (p.Gln606Ter)
c.499C>T (p.Gln167Ter)
c.1774C>T (p.Gln592Ter)
c.1105C>T (p.Gln369Ter)
c.970C>T (p.Gln324Ter)
c.1522C>T (p.Gln508Ter)
10g.94594795A>CCA377668110HELLSc.863A>C (p.Gln288Pro)
c.2124A>C (n.2124A>C)
c.2327A>C (p.Gln776Pro)
c.1895A>C (p.Gln632Pro)
c.2141A>C (p.Gln714Pro)
n.2189A>C
c.2233A>C (n.2233A>C)
c.2093A>C (p.Gln698Pro)
c.1799A>C (p.Gln600Pro)
c.1992A>C (n.1992A>C)
c.2108A>C (n.2108A>C)
c.2189A>C (p.Gln730Pro)
c.1817A>C (p.Gln606Pro)
c.500A>C (p.Gln167Pro)
c.1775A>C (p.Gln592Pro)
c.1106A>C (p.Gln369Pro)
c.971A>C (p.Gln324Pro)
c.1523A>C (p.Gln508Pro)
10g.94594795A>GCA377668108HELLSc.863A>G (p.Gln288Arg)
c.2124A>G (n.2124A>G)
c.2327A>G (p.Gln776Arg)
c.1895A>G (p.Gln632Arg)
c.2141A>G (p.Gln714Arg)
n.2189A>G
c.2233A>G (n.2233A>G)
c.2093A>G (p.Gln698Arg)
c.1799A>G (p.Gln600Arg)
c.1992A>G (n.1992A>G)
c.2108A>G (n.2108A>G)
c.2189A>G (p.Gln730Arg)
c.1817A>G (p.Gln606Arg)
c.500A>G (p.Gln167Arg)
c.1775A>G (p.Gln592Arg)
c.1106A>G (p.Gln369Arg)
c.971A>G (p.Gln324Arg)
c.1523A>G (p.Gln508Arg)
10g.94594795A>TCA377668107HELLSc.863A>T (p.Gln288Leu)
c.2124A>T (n.2124A>T)
c.2327A>T (p.Gln776Leu)
c.1895A>T (p.Gln632Leu)
c.2141A>T (p.Gln714Leu)
n.2189A>T
c.2233A>T (n.2233A>T)
c.2093A>T (p.Gln698Leu)
c.1799A>T (p.Gln600Leu)
c.1992A>T (n.1992A>T)
c.2108A>T (n.2108A>T)
c.2189A>T (p.Gln730Leu)
c.1817A>T (p.Gln606Leu)
c.500A>T (p.Gln167Leu)
c.1775A>T (p.Gln592Leu)
c.1106A>T (p.Gln369Leu)
c.971A>T (p.Gln324Leu)
c.1523A>T (p.Gln508Leu)
10g.94594796G>ACA470822541HELLSc.864G>A (p.Gln288=)
c.2125G>A (n.2125G>A)
c.2328G>A (p.Gln776=)
c.1896G>A (p.Gln632=)
c.2142G>A (p.Gln714=)
n.2190G>A
c.2234G>A (n.2234G>A)
c.2094G>A (p.Gln698=)
c.1800G>A (p.Gln600=)
c.1993G>A (n.1993G>A)
c.2109G>A (n.2109G>A)
c.2190G>A (p.Gln730=)
c.1818G>A (p.Gln606=)
c.501G>A (p.Gln167=)
c.1776G>A (p.Gln592=)
c.1107G>A (p.Gln369=)
c.972G>A (p.Gln324=)
c.1524G>A (p.Gln508=)
10g.94594796G>CCA377668113HELLSc.864G>C (p.Gln288His)
c.2125G>C (n.2125G>C)
c.2328G>C (p.Gln776His)
c.1896G>C (p.Gln632His)
c.2142G>C (p.Gln714His)
n.2190G>C
c.2234G>C (n.2234G>C)
c.2094G>C (p.Gln698His)
c.1800G>C (p.Gln600His)
c.1993G>C (n.1993G>C)
c.2109G>C (n.2109G>C)
c.2190G>C (p.Gln730His)
c.1818G>C (p.Gln606His)
c.501G>C (p.Gln167His)
c.1776G>C (p.Gln592His)
c.1107G>C (p.Gln369His)
c.972G>C (p.Gln324His)
c.1524G>C (p.Gln508His)
10g.94594796G>TCA377668114HELLSc.864G>T (p.Gln288His)
c.2125G>T (n.2125G>T)
c.2328G>T (p.Gln776His)
c.1896G>T (p.Gln632His)
c.2142G>T (p.Gln714His)
n.2190G>T
c.2234G>T (n.2234G>T)
c.2094G>T (p.Gln698His)
c.1800G>T (p.Gln600His)
c.1993G>T (n.1993G>T)
c.2109G>T (n.2109G>T)
c.2190G>T (p.Gln730His)
c.1818G>T (p.Gln606His)
c.501G>T (p.Gln167His)
c.1776G>T (p.Gln592His)
c.1107G>T (p.Gln369His)
c.972G>T (p.Gln324His)
c.1524G>T (p.Gln508His)
10g.94594797A>CCA377668115HELLSc.865A>C (p.Lys289Gln)
c.2126A>C (n.2126A>C)
c.2329A>C (p.Lys777Gln)
c.1897A>C (p.Lys633Gln)
c.2143A>C (p.Lys715Gln)
n.2191A>C
c.2235A>C (n.2235A>C)
c.2095A>C (p.Lys699Gln)
c.1801A>C (p.Lys601Gln)
c.1994A>C (n.1994A>C)
c.2110A>C (n.2110A>C)
c.2191A>C (p.Lys731Gln)
c.1819A>C (p.Lys607Gln)
c.502A>C (p.Lys168Gln)
c.1777A>C (p.Lys593Gln)
c.1108A>C (p.Lys370Gln)
c.973A>C (p.Lys325Gln)
c.1525A>C (p.Lys509Gln)
10g.94594797A>GCA377668116HELLSc.865A>G (p.Lys289Glu)
c.2126A>G (n.2126A>G)
c.2329A>G (p.Lys777Glu)
c.1897A>G (p.Lys633Glu)
c.2143A>G (p.Lys715Glu)
n.2191A>G
c.2235A>G (n.2235A>G)
c.2095A>G (p.Lys699Glu)
c.1801A>G (p.Lys601Glu)
c.1994A>G (n.1994A>G)
c.2110A>G (n.2110A>G)
c.2191A>G (p.Lys731Glu)
c.1819A>G (p.Lys607Glu)
c.502A>G (p.Lys168Glu)
c.1777A>G (p.Lys593Glu)
c.1108A>G (p.Lys370Glu)
c.973A>G (p.Lys325Glu)
c.1525A>G (p.Lys509Glu)
10g.94594797A>TCA377668117HELLSc.865A>T (p.Lys289Ter)
c.2126A>T (n.2126A>T)
c.2329A>T (p.Lys777Ter)
c.1897A>T (p.Lys633Ter)
c.2143A>T (p.Lys715Ter)
n.2191A>T
c.2235A>T (n.2235A>T)
c.2095A>T (p.Lys699Ter)
c.1801A>T (p.Lys601Ter)
c.1994A>T (n.1994A>T)
c.2110A>T (n.2110A>T)
c.2191A>T (p.Lys731Ter)
c.1819A>T (p.Lys607Ter)
c.502A>T (p.Lys168Ter)
c.1777A>T (p.Lys593Ter)
c.1108A>T (p.Lys370Ter)
c.973A>T (p.Lys325Ter)
c.1525A>T (p.Lys509Ter)
10g.94594798A>CCA377668120HELLSc.866A>C (p.Lys289Thr)
c.2127A>C (n.2127A>C)
c.2330A>C (p.Lys777Thr)
c.1898A>C (p.Lys633Thr)
c.2144A>C (p.Lys715Thr)
n.2192A>C
c.2236A>C (n.2236A>C)
c.2096A>C (p.Lys699Thr)
c.1802A>C (p.Lys601Thr)
c.1995A>C (n.1995A>C)
c.2111A>C (n.2111A>C)
c.2192A>C (p.Lys731Thr)
c.1820A>C (p.Lys607Thr)
c.503A>C (p.Lys168Thr)
c.1778A>C (p.Lys593Thr)
c.1109A>C (p.Lys370Thr)
c.974A>C (p.Lys325Thr)
c.1526A>C (p.Lys509Thr)
10g.94594798A>GCA377668121HELLSc.866A>G (p.Lys289Arg)
c.2127A>G (n.2127A>G)
c.2330A>G (p.Lys777Arg)
c.1898A>G (p.Lys633Arg)
c.2144A>G (p.Lys715Arg)
n.2192A>G
c.2236A>G (n.2236A>G)
c.2096A>G (p.Lys699Arg)
c.1802A>G (p.Lys601Arg)
c.1995A>G (n.1995A>G)
c.2111A>G (n.2111A>G)
c.2192A>G (p.Lys731Arg)
c.1820A>G (p.Lys607Arg)
c.503A>G (p.Lys168Arg)
c.1778A>G (p.Lys593Arg)
c.1109A>G (p.Lys370Arg)
c.974A>G (p.Lys325Arg)
c.1526A>G (p.Lys509Arg)
10g.94594798A>TCA377668123HELLSc.866A>T (p.Lys289Ile)
c.2127A>T (n.2127A>T)
c.2330A>T (p.Lys777Ile)
c.1898A>T (p.Lys633Ile)
c.2144A>T (p.Lys715Ile)
n.2192A>T
c.2236A>T (n.2236A>T)
c.2096A>T (p.Lys699Ile)
c.1802A>T (p.Lys601Ile)
c.1995A>T (n.1995A>T)
c.2111A>T (n.2111A>T)
c.2192A>T (p.Lys731Ile)
c.1820A>T (p.Lys607Ile)
c.503A>T (p.Lys168Ile)
c.1778A>T (p.Lys593Ile)
c.1109A>T (p.Lys370Ile)
c.974A>T (p.Lys325Ile)
c.1526A>T (p.Lys509Ile)
10g.94594799A=CA1929136104HELLSc.867A= (p.Lys289=)
c.2128A= (n.2128A=)
c.2331A= (p.Lys777=)
c.1899A= (p.Lys633=)
c.2145A= (p.Lys715=)
n.2193A=
c.2237A= (n.2237A=)
c.2097A= (p.Lys699=)
c.1803A= (p.Lys601=)
c.1996A= (n.1996A=)
c.2112A= (n.2112A=)
c.2193A= (p.Lys731=)
c.1821A= (p.Lys607=)
c.504A= (p.Lys168=)
c.1779A= (p.Lys593=)
c.1110A= (p.Lys370=)
c.975A= (p.Lys325=)
c.1527A= (p.Lys509=)
10g.94594799A>CCA377668125HELLSc.867A>C (p.Lys289Asn)
c.2128A>C (n.2128A>C)
c.2331A>C (p.Lys777Asn)
c.1899A>C (p.Lys633Asn)
c.2145A>C (p.Lys715Asn)
n.2193A>C
c.2237A>C (n.2237A>C)
c.2097A>C (p.Lys699Asn)
c.1803A>C (p.Lys601Asn)
c.1996A>C (n.1996A>C)
c.2112A>C (n.2112A>C)
c.2193A>C (p.Lys731Asn)
c.1821A>C (p.Lys607Asn)
c.504A>C (p.Lys168Asn)
c.1779A>C (p.Lys593Asn)
c.1110A>C (p.Lys370Asn)
c.975A>C (p.Lys325Asn)
c.1527A>C (p.Lys509Asn)
10g.94594799A>GCA211678118HELLSc.867A>G (p.Lys289=)
c.2128A>G (n.2128A>G)
c.2331A>G (p.Lys777=)
c.1899A>G (p.Lys633=)
c.2145A>G (p.Lys715=)
n.2193A>G
c.2237A>G (n.2237A>G)
c.2097A>G (p.Lys699=)
c.1803A>G (p.Lys601=)
c.1996A>G (n.1996A>G)
c.2112A>G (n.2112A>G)
c.2193A>G (p.Lys731=)
c.1821A>G (p.Lys607=)
c.504A>G (p.Lys168=)
c.1779A>G (p.Lys593=)
c.1110A>G (p.Lys370=)
c.975A>G (p.Lys325=)
c.1527A>G (p.Lys509=)
 dbSNP
10g.94594799A>TCA377668128HELLSc.867A>T (p.Lys289Asn)
c.2128A>T (n.2128A>T)
c.2331A>T (p.Lys777Asn)
c.1899A>T (p.Lys633Asn)
c.2145A>T (p.Lys715Asn)
n.2193A>T
c.2237A>T (n.2237A>T)
c.2097A>T (p.Lys699Asn)
c.1803A>T (p.Lys601Asn)
c.1996A>T (n.1996A>T)
c.2112A>T (n.2112A>T)
c.2193A>T (p.Lys731Asn)
c.1821A>T (p.Lys607Asn)
c.504A>T (p.Lys168Asn)
c.1779A>T (p.Lys593Asn)
c.1110A>T (p.Lys370Asn)
c.975A>T (p.Lys325Asn)
c.1527A>T (p.Lys509Asn)
10g.94594800A>CCA377668130HELLSc.868A>C (p.Ile290Leu)
c.2129A>C (n.2129A>C)
c.2332A>C (p.Ile778Leu)
c.1900A>C (p.Ile634Leu)
c.2146A>C (p.Ile716Leu)
n.2194A>C
c.2238A>C (n.2238A>C)
c.2098A>C (p.Ile700Leu)
c.1804A>C (p.Ile602Leu)
c.1997A>C (n.1997A>C)
c.2113A>C (n.2113A>C)
c.2194A>C (p.Ile732Leu)
c.1822A>C (p.Ile608Leu)
c.505A>C (p.Ile169Leu)
c.1780A>C (p.Ile594Leu)
c.1111A>C (p.Ile371Leu)
c.976A>C (p.Ile326Leu)
c.1528A>C (p.Ile510Leu)
10g.94594800A>GCA377668132HELLSc.868A>G (p.Ile290Val)
c.2129A>G (n.2129A>G)
c.2332A>G (p.Ile778Val)
c.1900A>G (p.Ile634Val)
c.2146A>G (p.Ile716Val)
n.2194A>G
c.2238A>G (n.2238A>G)
c.2098A>G (p.Ile700Val)
c.1804A>G (p.Ile602Val)
c.1997A>G (n.1997A>G)
c.2113A>G (n.2113A>G)
c.2194A>G (p.Ile732Val)
c.1822A>G (p.Ile608Val)
c.505A>G (p.Ile169Val)
c.1780A>G (p.Ile594Val)
c.1111A>G (p.Ile371Val)
c.976A>G (p.Ile326Val)
c.1528A>G (p.Ile510Val)
10g.94594800A>TCA377668134HELLSc.868A>T (p.Ile290Phe)
c.2129A>T (n.2129A>T)
c.2332A>T (p.Ile778Phe)
c.1900A>T (p.Ile634Phe)
c.2146A>T (p.Ile716Phe)
n.2194A>T
c.2238A>T (n.2238A>T)
c.2098A>T (p.Ile700Phe)
c.1804A>T (p.Ile602Phe)
c.1997A>T (n.1997A>T)
c.2113A>T (n.2113A>T)
c.2194A>T (p.Ile732Phe)
c.1822A>T (p.Ile608Phe)
c.505A>T (p.Ile169Phe)
c.1780A>T (p.Ile594Phe)
c.1111A>T (p.Ile371Phe)
c.976A>T (p.Ile326Phe)
c.1528A>T (p.Ile510Phe)
10g.94594801T>ACA377668139HELLSc.869T>A (p.Ile290Asn)
c.2130T>A (n.2130T>A)
c.2333T>A (p.Ile778Asn)
c.1901T>A (p.Ile634Asn)
c.2147T>A (p.Ile716Asn)
n.2195T>A
c.2239T>A (n.2239T>A)
c.2099T>A (p.Ile700Asn)
c.1805T>A (p.Ile602Asn)
c.1998T>A (n.1998T>A)
c.2114T>A (n.2114T>A)
c.2195T>A (p.Ile732Asn)
c.1823T>A (p.Ile608Asn)
c.506T>A (p.Ile169Asn)
c.1781T>A (p.Ile594Asn)
c.1112T>A (p.Ile371Asn)
c.977T>A (p.Ile326Asn)
c.1529T>A (p.Ile510Asn)
10g.94594801T>CCA377668142HELLSc.869T>C (p.Ile290Thr)
c.2130T>C (n.2130T>C)
c.2333T>C (p.Ile778Thr)
c.1901T>C (p.Ile634Thr)
c.2147T>C (p.Ile716Thr)
n.2195T>C
c.2239T>C (n.2239T>C)
c.2099T>C (p.Ile700Thr)
c.1805T>C (p.Ile602Thr)
c.1998T>C (n.1998T>C)
c.2114T>C (n.2114T>C)
c.2195T>C (p.Ile732Thr)
c.1823T>C (p.Ile608Thr)
c.506T>C (p.Ile169Thr)
c.1781T>C (p.Ile594Thr)
c.1112T>C (p.Ile371Thr)
c.977T>C (p.Ile326Thr)
c.1529T>C (p.Ile510Thr)
 dbSNP gnomAD v4
10g.94594801T>GCA377668137HELLSc.869T>G (p.Ile290Ser)
c.2130T>G (n.2130T>G)
c.2333T>G (p.Ile778Ser)
c.1901T>G (p.Ile634Ser)
c.2147T>G (p.Ile716Ser)
n.2195T>G
c.2239T>G (n.2239T>G)
c.2099T>G (p.Ile700Ser)
c.1805T>G (p.Ile602Ser)
c.1998T>G (n.1998T>G)
c.2114T>G (n.2114T>G)
c.2195T>G (p.Ile732Ser)
c.1823T>G (p.Ile608Ser)
c.506T>G (p.Ile169Ser)
c.1781T>G (p.Ile594Ser)
c.1112T>G (p.Ile371Ser)
c.977T>G (p.Ile326Ser)
c.1529T>G (p.Ile510Ser)
10g.94594802T>ACA470822543HELLSc.870T>A (p.Ile290=)
c.2131T>A (n.2131T>A)
c.2334T>A (p.Ile778=)
c.1902T>A (p.Ile634=)
c.2148T>A (p.Ile716=)
n.2196T>A
c.2240T>A (n.2240T>A)
c.2100T>A (p.Ile700=)
c.1806T>A (p.Ile602=)
c.1999T>A (n.1999T>A)
c.2115T>A (n.2115T>A)
c.2196T>A (p.Ile732=)
c.1824T>A (p.Ile608=)
c.507T>A (p.Ile169=)
c.1782T>A (p.Ile594=)
c.1113T>A (p.Ile371=)
c.978T>A (p.Ile326=)
c.1530T>A (p.Ile510=)
10g.94594802T>CCA470822544HELLSc.870T>C (p.Ile290=)
c.2131T>C (n.2131T>C)
c.2334T>C (p.Ile778=)
c.1902T>C (p.Ile634=)
c.2148T>C (p.Ile716=)
n.2196T>C
c.2240T>C (n.2240T>C)
c.2100T>C (p.Ile700=)
c.1806T>C (p.Ile602=)
c.1999T>C (n.1999T>C)
c.2115T>C (n.2115T>C)
c.2196T>C (p.Ile732=)
c.1824T>C (p.Ile608=)
c.507T>C (p.Ile169=)
c.1782T>C (p.Ile594=)
c.1113T>C (p.Ile371=)
c.978T>C (p.Ile326=)
c.1530T>C (p.Ile510=)
10g.94594802T>GCA377668144HELLSc.870T>G (p.Ile290Met)
c.2131T>G (n.2131T>G)
c.2334T>G (p.Ile778Met)
c.1902T>G (p.Ile634Met)
c.2148T>G (p.Ile716Met)
n.2196T>G
c.2240T>G (n.2240T>G)
c.2100T>G (p.Ile700Met)
c.1806T>G (p.Ile602Met)
c.1999T>G (n.1999T>G)
c.2115T>G (n.2115T>G)
c.2196T>G (p.Ile732Met)
c.1824T>G (p.Ile608Met)
c.507T>G (p.Ile169Met)
c.1782T>G (p.Ile594Met)
c.1113T>G (p.Ile371Met)
c.978T>G (p.Ile326Met)
c.1530T>G (p.Ile510Met)
10g.94594803G>ACA377668151HELLSc.871G>A (p.Val291Met)
c.2132G>A (n.2132G>A)
c.2335G>A (p.Val779Met)
c.1903G>A (p.Val635Met)
c.2149G>A (p.Val717Met)
n.2197G>A
c.2241G>A (n.2241G>A)
c.2101G>A (p.Val701Met)
c.1807G>A (p.Val603Met)
c.2000G>A (n.2000G>A)
c.2116G>A (n.2116G>A)
c.2197G>A (p.Val733Met)
c.1825G>A (p.Val609Met)
c.508G>A (p.Val170Met)
c.1783G>A (p.Val595Met)
c.1114G>A (p.Val372Met)
c.979G>A (p.Val327Met)
c.1531G>A (p.Val511Met)
10g.94594803G>CCA377668147HELLSc.871G>C (p.Val291Leu)
c.2132G>C (n.2132G>C)
c.2335G>C (p.Val779Leu)
c.1903G>C (p.Val635Leu)
c.2149G>C (p.Val717Leu)
n.2197G>C
c.2241G>C (n.2241G>C)
c.2101G>C (p.Val701Leu)
c.1807G>C (p.Val603Leu)
c.2000G>C (n.2000G>C)
c.2116G>C (n.2116G>C)
c.2197G>C (p.Val733Leu)
c.1825G>C (p.Val609Leu)
c.508G>C (p.Val170Leu)
c.1783G>C (p.Val595Leu)
c.1114G>C (p.Val372Leu)
c.979G>C (p.Val327Leu)
c.1531G>C (p.Val511Leu)
10g.94594803G=CA1929136105HELLSc.871G= (p.Val291=)
c.2132G= (n.2132G=)
c.2335G= (p.Val779=)
c.1903G= (p.Val635=)
c.2149G= (p.Val717=)
n.2197G=
c.2241G= (n.2241G=)
c.2101G= (p.Val701=)
c.1807G= (p.Val603=)
c.2000G= (n.2000G=)
c.2116G= (n.2116G=)
c.2197G= (p.Val733=)
c.1825G= (p.Val609=)
c.508G= (p.Val170=)
c.1783G= (p.Val595=)
c.1114G= (p.Val372=)
c.979G= (p.Val327=)
c.1531G= (p.Val511=)
10g.94594803G>TCA377668149HELLSc.871G>T (p.Val291Leu)
c.2132G>T (n.2132G>T)
c.2335G>T (p.Val779Leu)
c.1903G>T (p.Val635Leu)
c.2149G>T (p.Val717Leu)
n.2197G>T
c.2241G>T (n.2241G>T)
c.2101G>T (p.Val701Leu)
c.1807G>T (p.Val603Leu)
c.2000G>T (n.2000G>T)
c.2116G>T (n.2116G>T)
c.2197G>T (p.Val733Leu)
c.1825G>T (p.Val609Leu)
c.508G>T (p.Val170Leu)
c.1783G>T (p.Val595Leu)
c.1114G>T (p.Val372Leu)
c.979G>T (p.Val327Leu)
c.1531G>T (p.Val511Leu)
 dbSNP
10g.94594804T>ACA377668154HELLSc.872T>A (p.Val291Glu)
c.2133T>A (n.2133T>A)
c.2336T>A (p.Val779Glu)
c.1904T>A (p.Val635Glu)
c.2150T>A (p.Val717Glu)
n.2198T>A
c.2242T>A (n.2242T>A)
c.2102T>A (p.Val701Glu)
c.1808T>A (p.Val603Glu)
c.2001T>A (n.2001T>A)
c.2117T>A (n.2117T>A)
c.2198T>A (p.Val733Glu)
c.1826T>A (p.Val609Glu)
c.509T>A (p.Val170Glu)
c.1784T>A (p.Val595Glu)
c.1115T>A (p.Val372Glu)
c.980T>A (p.Val327Glu)
c.1532T>A (p.Val511Glu)
10g.94594804T>CCA377668155HELLSc.872T>C (p.Val291Ala)
c.2133T>C (n.2133T>C)
c.2336T>C (p.Val779Ala)
c.1904T>C (p.Val635Ala)
c.2150T>C (p.Val717Ala)
n.2198T>C
c.2242T>C (n.2242T>C)
c.2102T>C (p.Val701Ala)
c.1808T>C (p.Val603Ala)
c.2001T>C (n.2001T>C)
c.2117T>C (n.2117T>C)
c.2198T>C (p.Val733Ala)
c.1826T>C (p.Val609Ala)
c.509T>C (p.Val170Ala)
c.1784T>C (p.Val595Ala)
c.1115T>C (p.Val372Ala)
c.980T>C (p.Val327Ala)
c.1532T>C (p.Val511Ala)
10g.94594804T>GCA377668158HELLSc.872T>G (p.Val291Gly)
c.2133T>G (n.2133T>G)
c.2336T>G (p.Val779Gly)
c.1904T>G (p.Val635Gly)
c.2150T>G (p.Val717Gly)
n.2198T>G
c.2242T>G (n.2242T>G)
c.2102T>G (p.Val701Gly)
c.1808T>G (p.Val603Gly)
c.2001T>G (n.2001T>G)
c.2117T>G (n.2117T>G)
c.2198T>G (p.Val733Gly)
c.1826T>G (p.Val609Gly)
c.509T>G (p.Val170Gly)
c.1784T>G (p.Val595Gly)
c.1115T>G (p.Val372Gly)
c.980T>G (p.Val327Gly)
c.1532T>G (p.Val511Gly)
10g.94594805G>ACA470822546HELLSc.873G>A (p.Val291=)
c.2134G>A (n.2134G>A)
c.2337G>A (p.Val779=)
c.1905G>A (p.Val635=)
c.2151G>A (p.Val717=)
n.2199G>A
c.2243G>A (n.2243G>A)
c.2103G>A (p.Val701=)
c.1809G>A (p.Val603=)
c.2002G>A (n.2002G>A)
c.2118G>A (n.2118G>A)
c.2199G>A (p.Val733=)
c.1827G>A (p.Val609=)
c.510G>A (p.Val170=)
c.1785G>A (p.Val595=)
c.1116G>A (p.Val372=)
c.981G>A (p.Val327=)
c.1533G>A (p.Val511=)
10g.94594805G>CCA470822547HELLSc.873G>C (p.Val291=)
c.2134G>C (n.2134G>C)
c.2337G>C (p.Val779=)
c.1905G>C (p.Val635=)
c.2151G>C (p.Val717=)
n.2199G>C
c.2243G>C (n.2243G>C)
c.2103G>C (p.Val701=)
c.1809G>C (p.Val603=)
c.2002G>C (n.2002G>C)
c.2118G>C (n.2118G>C)
c.2199G>C (p.Val733=)
c.1827G>C (p.Val609=)
c.510G>C (p.Val170=)
c.1785G>C (p.Val595=)
c.1116G>C (p.Val372=)
c.981G>C (p.Val327=)
c.1533G>C (p.Val511=)
10g.94594805G>TCA470822545HELLSc.873G>T (p.Val291=)
c.2134G>T (n.2134G>T)
c.2337G>T (p.Val779=)
c.1905G>T (p.Val635=)
c.2151G>T (p.Val717=)
n.2199G>T
c.2243G>T (n.2243G>T)
c.2103G>T (p.Val701=)
c.1809G>T (p.Val603=)
c.2002G>T (n.2002G>T)
c.2118G>T (n.2118G>T)
c.2199G>T (p.Val733=)
c.1827G>T (p.Val609=)
c.510G>T (p.Val170=)
c.1785G>T (p.Val595=)
c.1116G>T (p.Val372=)
c.981G>T (p.Val327=)
c.1533G>T (p.Val511=)
10g.94594806G>ACA377668160HELLSc.874G>A (p.Glu292Lys)
c.2135G>A (n.2135G>A)
c.2338G>A (p.Glu780Lys)
c.1906G>A (p.Glu636Lys)
c.2152G>A (p.Glu718Lys)
n.2200G>A
c.2244G>A (n.2244G>A)
c.2104G>A (p.Glu702Lys)
c.1810G>A (p.Glu604Lys)
c.2003G>A (n.2003G>A)
c.2119G>A (n.2119G>A)
c.2200G>A (p.Glu734Lys)
c.1828G>A (p.Glu610Lys)
c.511G>A (p.Glu171Lys)
c.1786G>A (p.Glu596Lys)
c.1117G>A (p.Glu373Lys)
c.982G>A (p.Glu328Lys)
c.1534G>A (p.Glu512Lys)
10g.94594806G>CCA377668162HELLSc.874G>C (p.Glu292Gln)
c.2135G>C (n.2135G>C)
c.2338G>C (p.Glu780Gln)
c.1906G>C (p.Glu636Gln)
c.2152G>C (p.Glu718Gln)
n.2200G>C
c.2244G>C (n.2244G>C)
c.2104G>C (p.Glu702Gln)
c.1810G>C (p.Glu604Gln)
c.2003G>C (n.2003G>C)
c.2119G>C (n.2119G>C)
c.2200G>C (p.Glu734Gln)
c.1828G>C (p.Glu610Gln)
c.511G>C (p.Glu171Gln)
c.1786G>C (p.Glu596Gln)
c.1117G>C (p.Glu373Gln)
c.982G>C (p.Glu328Gln)
c.1534G>C (p.Glu512Gln)
10g.94594806G>TCA377668164HELLSc.874G>T (p.Glu292Ter)
c.2135G>T (n.2135G>T)
c.2338G>T (p.Glu780Ter)
c.1906G>T (p.Glu636Ter)
c.2152G>T (p.Glu718Ter)
n.2200G>T
c.2244G>T (n.2244G>T)
c.2104G>T (p.Glu702Ter)
c.1810G>T (p.Glu604Ter)
c.2003G>T (n.2003G>T)
c.2119G>T (n.2119G>T)
c.2200G>T (p.Glu734Ter)
c.1828G>T (p.Glu610Ter)
c.511G>T (p.Glu171Ter)
c.1786G>T (p.Glu596Ter)
c.1117G>T (p.Glu373Ter)
c.982G>T (p.Glu328Ter)
c.1534G>T (p.Glu512Ter)
10g.94594807A>CCA377668166HELLSc.875A>C (p.Glu292Ala)
c.2136A>C (n.2136A>C)
c.2339A>C (p.Glu780Ala)
c.1907A>C (p.Glu636Ala)
c.2153A>C (p.Glu718Ala)
n.2201A>C
c.2245A>C (n.2245A>C)
c.2105A>C (p.Glu702Ala)
c.1811A>C (p.Glu604Ala)
c.2004A>C (n.2004A>C)
c.2120A>C (n.2120A>C)
c.2201A>C (p.Glu734Ala)
c.1829A>C (p.Glu610Ala)
c.512A>C (p.Glu171Ala)
c.1787A>C (p.Glu596Ala)
c.1118A>C (p.Glu373Ala)
c.983A>C (p.Glu328Ala)
c.1535A>C (p.Glu512Ala)
10g.94594807A>GCA377668169HELLSc.875A>G (p.Glu292Gly)
c.2136A>G (n.2136A>G)
c.2339A>G (p.Glu780Gly)
c.1907A>G (p.Glu636Gly)
c.2153A>G (p.Glu718Gly)
n.2201A>G
c.2245A>G (n.2245A>G)
c.2105A>G (p.Glu702Gly)
c.1811A>G (p.Glu604Gly)
c.2004A>G (n.2004A>G)
c.2120A>G (n.2120A>G)
c.2201A>G (p.Glu734Gly)
c.1829A>G (p.Glu610Gly)
c.512A>G (p.Glu171Gly)
c.1787A>G (p.Glu596Gly)
c.1118A>G (p.Glu373Gly)
c.983A>G (p.Glu328Gly)
c.1535A>G (p.Glu512Gly)
10g.94594807A>TCA377668171HELLSc.875A>T (p.Glu292Val)
c.2136A>T (n.2136A>T)
c.2339A>T (p.Glu780Val)
c.1907A>T (p.Glu636Val)
c.2153A>T (p.Glu718Val)
n.2201A>T
c.2245A>T (n.2245A>T)
c.2105A>T (p.Glu702Val)
c.1811A>T (p.Glu604Val)
c.2004A>T (n.2004A>T)
c.2120A>T (n.2120A>T)
c.2201A>T (p.Glu734Val)
c.1829A>T (p.Glu610Val)
c.512A>T (p.Glu171Val)
c.1787A>T (p.Glu596Val)
c.1118A>T (p.Glu373Val)
c.983A>T (p.Glu328Val)
c.1535A>T (p.Glu512Val)
10g.94594808A=CA1929136106HELLSc.876A= (p.Glu292=)
c.2137A= (n.2137A=)
c.2340A= (p.Glu780=)
c.1908A= (p.Glu636=)
c.2154A= (p.Glu718=)
n.2202A=
c.2246A= (n.2246A=)
c.2106A= (p.Glu702=)
c.1812A= (p.Glu604=)
c.2005A= (n.2005A=)
c.2121A= (n.2121A=)
c.2202A= (p.Glu734=)
c.1830A= (p.Glu610=)
c.513A= (p.Glu171=)
c.1788A= (p.Glu596=)
c.1119A= (p.Glu373=)
c.984A= (p.Glu328=)
c.1536A= (p.Glu512=)
10g.94594808A>CCA377668174HELLSc.876A>C (p.Glu292Asp)
c.2137A>C (n.2137A>C)
c.2340A>C (p.Glu780Asp)
c.1908A>C (p.Glu636Asp)
c.2154A>C (p.Glu718Asp)
n.2202A>C
c.2246A>C (n.2246A>C)
c.2106A>C (p.Glu702Asp)
c.1812A>C (p.Glu604Asp)
c.2005A>C (n.2005A>C)
c.2121A>C (n.2121A>C)
c.2202A>C (p.Glu734Asp)
c.1830A>C (p.Glu610Asp)
c.513A>C (p.Glu171Asp)
c.1788A>C (p.Glu596Asp)
c.1119A>C (p.Glu373Asp)
c.984A>C (p.Glu328Asp)
c.1536A>C (p.Glu512Asp)
10g.94594808A>GCA470822548HELLSc.876A>G (p.Glu292=)
c.2137A>G (n.2137A>G)
c.2340A>G (p.Glu780=)
c.1908A>G (p.Glu636=)
c.2154A>G (p.Glu718=)
n.2202A>G
c.2246A>G (n.2246A>G)
c.2106A>G (p.Glu702=)
c.1812A>G (p.Glu604=)
c.2005A>G (n.2005A>G)
c.2121A>G (n.2121A>G)
c.2202A>G (p.Glu734=)
c.1830A>G (p.Glu610=)
c.513A>G (p.Glu171=)
c.1788A>G (p.Glu596=)
c.1119A>G (p.Glu373=)
c.984A>G (p.Glu328=)
c.1536A>G (p.Glu512=)
 dbSNP gnomAD v3 gnomAD v4
10g.94594808A>TCA377668175HELLSc.876A>T (p.Glu292Asp)
c.2137A>T (n.2137A>T)
c.2340A>T (p.Glu780Asp)
c.1908A>T (p.Glu636Asp)
c.2154A>T (p.Glu718Asp)
n.2202A>T
c.2246A>T (n.2246A>T)
c.2106A>T (p.Glu702Asp)
c.1812A>T (p.Glu604Asp)
c.2005A>T (n.2005A>T)
c.2121A>T (n.2121A>T)
c.2202A>T (p.Glu734Asp)
c.1830A>T (p.Glu610Asp)
c.513A>T (p.Glu171Asp)
c.1788A>T (p.Glu596Asp)
c.1119A>T (p.Glu373Asp)
c.984A>T (p.Glu328Asp)
c.1536A>T (p.Glu512Asp)
10g.94594809A=CA1929136107HELLSc.877A= (p.Arg293=)
c.2138A= (n.2138A=)
c.2341A= (p.Arg781=)
c.1909A= (p.Arg637=)
c.2155A= (p.Arg719=)
n.2203A=
c.2247A= (n.2247A=)
c.2107A= (p.Arg703=)
c.1813A= (p.Arg605=)
c.2006A= (n.2006A=)
c.2122A= (n.2122A=)
c.2203A= (p.Arg735=)
c.1831A= (p.Arg611=)
c.514A= (p.Arg172=)
c.1789A= (p.Arg597=)
c.1120A= (p.Arg374=)
c.985A= (p.Arg329=)
c.1537A= (p.Arg513=)
10g.94594809A>CCA470822549HELLSc.877A>C (p.Arg293=)
c.2138A>C (n.2138A>C)
c.2341A>C (p.Arg781=)
c.1909A>C (p.Arg637=)
c.2155A>C (p.Arg719=)
n.2203A>C
c.2247A>C (n.2247A>C)
c.2107A>C (p.Arg703=)
c.1813A>C (p.Arg605=)
c.2006A>C (n.2006A>C)
c.2122A>C (n.2122A>C)
c.2203A>C (p.Arg735=)
c.1831A>C (p.Arg611=)
c.514A>C (p.Arg172=)
c.1789A>C (p.Arg597=)
c.1120A>C (p.Arg374=)
c.985A>C (p.Arg329=)
c.1537A>C (p.Arg513=)
10g.94594809A>GCA377668178HELLSc.877A>G (p.Arg293Gly)
c.2138A>G (n.2138A>G)
c.2341A>G (p.Arg781Gly)
c.1909A>G (p.Arg637Gly)
c.2155A>G (p.Arg719Gly)
n.2203A>G
c.2247A>G (n.2247A>G)
c.2107A>G (p.Arg703Gly)
c.1813A>G (p.Arg605Gly)
c.2006A>G (n.2006A>G)
c.2122A>G (n.2122A>G)
c.2203A>G (p.Arg735Gly)
c.1831A>G (p.Arg611Gly)
c.514A>G (p.Arg172Gly)
c.1789A>G (p.Arg597Gly)
c.1120A>G (p.Arg374Gly)
c.985A>G (p.Arg329Gly)
c.1537A>G (p.Arg513Gly)
 dbSNP gnomAD v2 gnomAD v4
10g.94594809A>TCA377668180HELLSc.877A>T (p.Arg293Ter)
c.2138A>T (n.2138A>T)
c.2341A>T (p.Arg781Ter)
c.1909A>T (p.Arg637Ter)
c.2155A>T (p.Arg719Ter)
n.2203A>T
c.2247A>T (n.2247A>T)
c.2107A>T (p.Arg703Ter)
c.1813A>T (p.Arg605Ter)
c.2006A>T (n.2006A>T)
c.2122A>T (n.2122A>T)
c.2203A>T (p.Arg735Ter)
c.1831A>T (p.Arg611Ter)
c.514A>T (p.Arg172Ter)
c.1789A>T (p.Arg597Ter)
c.1120A>T (p.Arg374Ter)
c.985A>T (p.Arg329Ter)
c.1537A>T (p.Arg513Ter)

Number of alleles fetched