Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74180070T>CCA715610830STRA6c.*10A>G (n.*10A>G)
n.1723A>G
n.2286A>G
dbSNP gnomAD v3 gnomAD v4
15g.74180070T>GCA7654366STRA6c.*10A>C (n.*10A>C)
n.1723A>C
n.2286A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180070T=CA2187549679STRA6c.*10A= (n.*10A=)
n.1723A=
n.2286A=
15g.74180071T>GCA2575786887STRA6c.*9A>C (n.*9A>C)
n.1722A>C
n.2285A>C
15g.74180072C=CA2187549680STRA6c.*8G= (n.*8G=)
n.1721G=
n.2284G=
15g.74180072C>TCA7654367STRA6c.*8G>A (n.*8G>A)
n.1721G>A
n.2284G>A
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180073C=CA2187549681STRA6c.*7G= (n.*7G=)
n.1720G=
n.2283G=
15g.74180073C>TCA619411556STRA6c.*7G>A (n.*7G>A)
n.1720G>A
n.2283G>A
dbSNP gnomAD v2 gnomAD v4
15g.74180075T>ACA2575786888STRA6c.*5A>T (n.*5A>T)
n.1718A>T
n.2281A>T
15g.74180076G>ACA971473791STRA6c.*4C>T (n.*4C>T)
n.1717C>T
n.2280C>T
dbSNP gnomAD v3 gnomAD v4
15g.74180076G=CA2187549682STRA6c.*4C= (n.*4C=)
n.1717C=
n.2280C=
15g.74180077C>ACA2629451071STRA6c.*3G>T (n.*3G>T)
n.1716G>T
n.2279G>T
gnomAD v4
15g.74180078C=CA2187549683STRA6c.*2G= (n.*2G=)
n.1715G=
n.2278G=
15g.74180078C>TCA619411557STRA6c.*2G>A (n.*2G>A)
n.1715G>A
n.2278G>A
dbSNP gnomAD v2 gnomAD v4
15g.74180079C>TCA2629451072STRA6c.*1G>A (n.*1G>A)
n.1714G>A
n.2277G>A
gnomAD v4
15g.74180080T>ACA393128138STRA6c.2004A>T (p.Ter668Cys)
c.1980A>T (p.Ter660Cys)
c.1977A>T (p.Ter659Cys)
c.2115A>T (p.Ter705Cys)
n.1713A>T
c.2121A>T (p.Ter707Cys)
c.2049A>T (p.Ter683Cys)
n.2276A>T
c.1815A>T (p.Ter605Cys)
c.2052A>T (p.Ter684Cys)
15g.74180080T>CCA393128139STRA6c.2004A>G (p.Ter668Trp)
c.1980A>G (p.Ter660Trp)
c.1977A>G (p.Ter659Trp)
c.2115A>G (p.Ter705Trp)
n.1713A>G
c.2121A>G (p.Ter707Trp)
c.2049A>G (p.Ter683Trp)
n.2276A>G
c.1815A>G (p.Ter605Trp)
c.2052A>G (p.Ter684Trp)
gnomAD v4
15g.74180080T>GCA393128140STRA6c.2004A>C (p.Ter668Cys)
c.1980A>C (p.Ter660Cys)
c.1977A>C (p.Ter659Cys)
c.2115A>C (p.Ter705Cys)
n.1713A>C
c.2121A>C (p.Ter707Cys)
c.2049A>C (p.Ter683Cys)
n.2276A>C
c.1815A>C (p.Ter605Cys)
c.2052A>C (p.Ter684Cys)
15g.74180081C>ACA393128141STRA6c.2003G>T (p.Ter668Leu)
c.1979G>T (p.Ter660Leu)
c.1976G>T (p.Ter659Leu)
c.2114G>T (p.Ter705Leu)
n.1712G>T
c.2120G>T (p.Ter707Leu)
c.2048G>T (p.Ter683Leu)
n.2275G>T
c.1814G>T (p.Ter605Leu)
c.2051G>T (p.Ter684Leu)
gnomAD v4
15g.74180081C>GCA393128142STRA6c.2003G>C (p.Ter668Ser)
c.1979G>C (p.Ter660Ser)
c.1976G>C (p.Ter659Ser)
c.2114G>C (p.Ter705Ser)
n.1712G>C
c.2120G>C (p.Ter707Ser)
c.2048G>C (p.Ter683Ser)
n.2275G>C
c.1814G>C (p.Ter605Ser)
c.2051G>C (p.Ter684Ser)
15g.74180081C>TCA491170258STRA6c.2003G>A (p.Ter668=)
c.1979G>A (p.Ter660=)
c.1976G>A (p.Ter659=)
c.2114G>A (p.Ter705=)
n.1712G>A
c.2120G>A (p.Ter707=)
c.2048G>A (p.Ter683=)
n.2275G>A
c.1814G>A (p.Ter605=)
c.2051G>A (p.Ter684=)
15g.74180082A>CCA393128145STRA6c.2002T>G (p.Ter668Gly)
c.1978T>G (p.Ter660Gly)
c.1975T>G (p.Ter659Gly)
c.2113T>G (p.Ter705Gly)
n.1711T>G
c.2119T>G (p.Ter707Gly)
c.2047T>G (p.Ter683Gly)
n.2274T>G
c.1813T>G (p.Ter605Gly)
c.2050T>G (p.Ter684Gly)
15g.74180082A>GCA393128143STRA6c.2002T>C (p.Ter668Arg)
c.1978T>C (p.Ter660Arg)
c.1975T>C (p.Ter659Arg)
c.2113T>C (p.Ter705Arg)
n.1711T>C
c.2119T>C (p.Ter707Arg)
c.2047T>C (p.Ter683Arg)
n.2274T>C
c.1813T>C (p.Ter605Arg)
c.2050T>C (p.Ter684Arg)
15g.74180082A>TCA393128144STRA6c.2002T>A (p.Ter668Arg)
c.1978T>A (p.Ter660Arg)
c.1975T>A (p.Ter659Arg)
c.2113T>A (p.Ter705Arg)
n.1711T>A
c.2119T>A (p.Ter707Arg)
c.2047T>A (p.Ter683Arg)
n.2274T>A
c.1813T>A (p.Ter605Arg)
c.2050T>A (p.Ter684Arg)
15g.74180083G>ACA7654368STRA6c.2001C>T (p.Pro667=)
c.1977C>T (p.Pro659=)
c.1974C>T (p.Pro658=)
c.2112C>T (p.Pro704=)
n.1710C>T
c.2118C>T (p.Pro706=)
c.2046C>T (p.Pro682=)
n.2273C>T
c.1812C>T (p.Pro604=)
c.2049C>T (p.Pro683=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180083G>CCA491170261STRA6c.2001C>G (p.Pro667=)
c.1977C>G (p.Pro659=)
c.1974C>G (p.Pro658=)
c.2112C>G (p.Pro704=)
n.1710C>G
c.2118C>G (p.Pro706=)
c.2046C>G (p.Pro682=)
n.2273C>G
c.1812C>G (p.Pro604=)
c.2049C>G (p.Pro683=)
15g.74180083G=CA2187549684STRA6c.2001C= (p.Pro667=)
c.1977C= (p.Pro659=)
c.1974C= (p.Pro658=)
c.2112C= (p.Pro704=)
n.1710C=
c.2118C= (p.Pro706=)
c.2046C= (p.Pro682=)
n.2273C=
c.1812C= (p.Pro604=)
c.2049C= (p.Pro683=)
15g.74180083G>TCA491170262STRA6c.2001C>A (p.Pro667=)
c.1977C>A (p.Pro659=)
c.1974C>A (p.Pro658=)
c.2112C>A (p.Pro704=)
n.1710C>A
c.2118C>A (p.Pro706=)
c.2046C>A (p.Pro682=)
n.2273C>A
c.1812C>A (p.Pro604=)
c.2049C>A (p.Pro683=)
15g.74180084G>ACA393128146STRA6c.2000C>T (p.Pro667Leu)
c.1976C>T (p.Pro659Leu)
c.1973C>T (p.Pro658Leu)
c.2111C>T (p.Pro704Leu)
n.1709C>T
c.2117C>T (p.Pro706Leu)
c.2045C>T (p.Pro682Leu)
n.2272C>T
c.1811C>T (p.Pro604Leu)
c.2048C>T (p.Pro683Leu)
15g.74180084G>CCA393128147STRA6c.2000C>G (p.Pro667Arg)
c.1976C>G (p.Pro659Arg)
c.1973C>G (p.Pro658Arg)
c.2111C>G (p.Pro704Arg)
n.1709C>G
c.2117C>G (p.Pro706Arg)
c.2045C>G (p.Pro682Arg)
n.2272C>G
c.1811C>G (p.Pro604Arg)
c.2048C>G (p.Pro683Arg)
15g.74180084G>TCA393128148STRA6c.2000C>A (p.Pro667His)
c.1976C>A (p.Pro659His)
c.1973C>A (p.Pro658His)
c.2111C>A (p.Pro704His)
n.1709C>A
c.2117C>A (p.Pro706His)
c.2045C>A (p.Pro682His)
n.2272C>A
c.1811C>A (p.Pro604His)
c.2048C>A (p.Pro683His)
15g.74180085G>ACA272746075STRA6c.1999C>T (p.Pro667Ser)
c.1975C>T (p.Pro659Ser)
c.1972C>T (p.Pro658Ser)
c.2110C>T (p.Pro704Ser)
n.1708C>T
c.2116C>T (p.Pro706Ser)
c.2044C>T (p.Pro682Ser)
n.2271C>T
c.1810C>T (p.Pro604Ser)
c.2047C>T (p.Pro683Ser)
dbSNP
15g.74180085G>CCA393128149STRA6c.1999C>G (p.Pro667Ala)
c.1975C>G (p.Pro659Ala)
c.1972C>G (p.Pro658Ala)
c.2110C>G (p.Pro704Ala)
n.1708C>G
c.2116C>G (p.Pro706Ala)
c.2044C>G (p.Pro682Ala)
n.2271C>G
c.1810C>G (p.Pro604Ala)
c.2047C>G (p.Pro683Ala)
15g.74180085G=CA2187549685STRA6c.1999C= (p.Pro667=)
c.1975C= (p.Pro659=)
c.1972C= (p.Pro658=)
c.2110C= (p.Pro704=)
n.1708C=
c.2116C= (p.Pro706=)
c.2044C= (p.Pro682=)
n.2271C=
c.1810C= (p.Pro604=)
c.2047C= (p.Pro683=)
15g.74180085G>TCA393128150STRA6c.1999C>A (p.Pro667Thr)
c.1975C>A (p.Pro659Thr)
c.1972C>A (p.Pro658Thr)
c.2110C>A (p.Pro704Thr)
n.1708C>A
c.2116C>A (p.Pro706Thr)
c.2044C>A (p.Pro682Thr)
n.2271C>A
c.1810C>A (p.Pro604Thr)
c.2047C>A (p.Pro683Thr)
15g.74180086C>ACA393128151STRA6c.1998G>T (p.Gln666His)
c.1974G>T (p.Gln658His)
c.1971G>T (p.Gln657His)
c.2109G>T (p.Gln703His)
n.1707G>T
c.2115G>T (p.Gln705His)
c.2043G>T (p.Gln681His)
n.2270G>T
c.1809G>T (p.Gln603His)
c.2046G>T (p.Gln682His)
15g.74180086C>GCA393128152STRA6c.1998G>C (p.Gln666His)
c.1974G>C (p.Gln658His)
c.1971G>C (p.Gln657His)
c.2109G>C (p.Gln703His)
n.1707G>C
c.2115G>C (p.Gln705His)
c.2043G>C (p.Gln681His)
n.2270G>C
c.1809G>C (p.Gln603His)
c.2046G>C (p.Gln682His)
15g.74180086C>TCA491170263STRA6c.1998G>A (p.Gln666=)
c.1974G>A (p.Gln658=)
c.1971G>A (p.Gln657=)
c.2109G>A (p.Gln703=)
n.1707G>A
c.2115G>A (p.Gln705=)
c.2043G>A (p.Gln681=)
n.2270G>A
c.1809G>A (p.Gln603=)
c.2046G>A (p.Gln682=)
15g.74180087T>ACA393128153STRA6c.1997A>T (p.Gln666Leu)
c.1973A>T (p.Gln658Leu)
c.1970A>T (p.Gln657Leu)
c.2108A>T (p.Gln703Leu)
n.1706A>T
c.2114A>T (p.Gln705Leu)
c.2042A>T (p.Gln681Leu)
n.2269A>T
c.1808A>T (p.Gln603Leu)
c.2045A>T (p.Gln682Leu)
15g.74180087T>CCA393128154STRA6c.1997A>G (p.Gln666Arg)
c.1973A>G (p.Gln658Arg)
c.1970A>G (p.Gln657Arg)
c.2108A>G (p.Gln703Arg)
n.1706A>G
c.2114A>G (p.Gln705Arg)
c.2042A>G (p.Gln681Arg)
n.2269A>G
c.1808A>G (p.Gln603Arg)
c.2045A>G (p.Gln682Arg)
15g.74180087T>GCA393128155STRA6c.1997A>C (p.Gln666Pro)
c.1973A>C (p.Gln658Pro)
c.1970A>C (p.Gln657Pro)
c.2108A>C (p.Gln703Pro)
n.1706A>C
c.2114A>C (p.Gln705Pro)
c.2042A>C (p.Gln681Pro)
n.2269A>C
c.1808A>C (p.Gln603Pro)
c.2045A>C (p.Gln682Pro)
15g.74180088G>ACA393128157STRA6c.1996C>T (p.Gln666Ter)
c.1972C>T (p.Gln658Ter)
c.1969C>T (p.Gln657Ter)
c.2107C>T (p.Gln703Ter)
n.1705C>T
c.2113C>T (p.Gln705Ter)
c.2041C>T (p.Gln681Ter)
n.2268C>T
c.1807C>T (p.Gln603Ter)
c.2044C>T (p.Gln682Ter)
dbSNP gnomAD v3 gnomAD v4
15g.74180088G>CCA393128158STRA6c.1996C>G (p.Gln666Glu)
c.1972C>G (p.Gln658Glu)
c.1969C>G (p.Gln657Glu)
c.2107C>G (p.Gln703Glu)
n.1705C>G
c.2113C>G (p.Gln705Glu)
c.2041C>G (p.Gln681Glu)
n.2268C>G
c.1807C>G (p.Gln603Glu)
c.2044C>G (p.Gln682Glu)
15g.74180088G=CA2187549686STRA6c.1996C= (p.Gln666=)
c.1972C= (p.Gln658=)
c.1969C= (p.Gln657=)
c.2107C= (p.Gln703=)
n.1705C=
c.2113C= (p.Gln705=)
c.2041C= (p.Gln681=)
n.2268C=
c.1807C= (p.Gln603=)
c.2044C= (p.Gln682=)
15g.74180088G>TCA393128156STRA6c.1996C>A (p.Gln666Lys)
c.1972C>A (p.Gln658Lys)
c.1969C>A (p.Gln657Lys)
c.2107C>A (p.Gln703Lys)
n.1705C>A
c.2113C>A (p.Gln705Lys)
c.2041C>A (p.Gln681Lys)
n.2268C>A
c.1807C>A (p.Gln603Lys)
c.2044C>A (p.Gln682Lys)
15g.74180089G>ACA7654369STRA6c.1995C>T (p.Ala665=)
c.1971C>T (p.Ala657=)
c.1968C>T (p.Ala656=)
c.2106C>T (p.Ala702=)
n.1704C>T
c.2112C>T (p.Ala704=)
c.2040C>T (p.Ala680=)
n.2267C>T
c.1806C>T (p.Ala602=)
c.2043C>T (p.Ala681=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180089G>CCA491170266STRA6c.1995C>G (p.Ala665=)
c.1971C>G (p.Ala657=)
c.1968C>G (p.Ala656=)
c.2106C>G (p.Ala702=)
n.1704C>G
c.2112C>G (p.Ala704=)
c.2040C>G (p.Ala680=)
n.2267C>G
c.1806C>G (p.Ala602=)
c.2043C>G (p.Ala681=)
15g.74180089G=CA2187549687STRA6c.1995C= (p.Ala665=)
c.1971C= (p.Ala657=)
c.1968C= (p.Ala656=)
c.2106C= (p.Ala702=)
n.1704C=
c.2112C= (p.Ala704=)
c.2040C= (p.Ala680=)
n.2267C=
c.1806C= (p.Ala602=)
c.2043C= (p.Ala681=)
15g.74180089G>TCA491170267STRA6c.1995C>A (p.Ala665=)
c.1971C>A (p.Ala657=)
c.1968C>A (p.Ala656=)
c.2106C>A (p.Ala702=)
n.1704C>A
c.2112C>A (p.Ala704=)
c.2040C>A (p.Ala680=)
n.2267C>A
c.1806C>A (p.Ala602=)
c.2043C>A (p.Ala681=)
dbSNP gnomAD v3 gnomAD v4
15g.74180090G>ACA7654370STRA6c.1994C>T (p.Ala665Val)
c.1970C>T (p.Ala657Val)
c.1967C>T (p.Ala656Val)
c.2105C>T (p.Ala702Val)
n.1703C>T
c.2111C>T (p.Ala704Val)
c.2039C>T (p.Ala680Val)
n.2266C>T
c.1805C>T (p.Ala602Val)
c.2042C>T (p.Ala681Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180090G>CCA393128159STRA6c.1994C>G (p.Ala665Gly)
c.1970C>G (p.Ala657Gly)
c.1967C>G (p.Ala656Gly)
c.2105C>G (p.Ala702Gly)
n.1703C>G
c.2111C>G (p.Ala704Gly)
c.2039C>G (p.Ala680Gly)
n.2266C>G
c.1805C>G (p.Ala602Gly)
c.2042C>G (p.Ala681Gly)
15g.74180090G=CA2187549688STRA6c.1994C= (p.Ala665=)
c.1970C= (p.Ala657=)
c.1967C= (p.Ala656=)
c.2105C= (p.Ala702=)
n.1703C=
c.2111C= (p.Ala704=)
c.2039C= (p.Ala680=)
n.2266C=
c.1805C= (p.Ala602=)
c.2042C= (p.Ala681=)
15g.74180090G>TCA7654371STRA6c.1994C>A (p.Ala665Asp)
c.1970C>A (p.Ala657Asp)
c.1967C>A (p.Ala656Asp)
c.2105C>A (p.Ala702Asp)
n.1703C>A
c.2111C>A (p.Ala704Asp)
c.2039C>A (p.Ala680Asp)
n.2266C>A
c.1805C>A (p.Ala602Asp)
c.2042C>A (p.Ala681Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180091C>ACA393128160STRA6c.1993G>T (p.Ala665Ser)
c.1969G>T (p.Ala657Ser)
c.1966G>T (p.Ala656Ser)
c.2104G>T (p.Ala702Ser)
n.1702G>T
c.2110G>T (p.Ala704Ser)
c.2038G>T (p.Ala680Ser)
n.2265G>T
c.1804G>T (p.Ala602Ser)
c.2041G>T (p.Ala681Ser)
15g.74180091C=CA2187549689STRA6c.1993G= (p.Ala665=)
c.1969G= (p.Ala657=)
c.1966G= (p.Ala656=)
c.2104G= (p.Ala702=)
n.1702G=
c.2110G= (p.Ala704=)
c.2038G= (p.Ala680=)
n.2265G=
c.1804G= (p.Ala602=)
c.2041G= (p.Ala681=)
15g.74180091C>GCA393128161STRA6c.1993G>C (p.Ala665Pro)
c.1969G>C (p.Ala657Pro)
c.1966G>C (p.Ala656Pro)
c.2104G>C (p.Ala702Pro)
n.1702G>C
c.2110G>C (p.Ala704Pro)
c.2038G>C (p.Ala680Pro)
n.2265G>C
c.1804G>C (p.Ala602Pro)
c.2041G>C (p.Ala681Pro)
15g.74180091C>TCA393128162STRA6c.1993G>A (p.Ala665Thr)
c.1969G>A (p.Ala657Thr)
c.1966G>A (p.Ala656Thr)
c.2104G>A (p.Ala702Thr)
n.1702G>A
c.2110G>A (p.Ala704Thr)
c.2038G>A (p.Ala680Thr)
n.2265G>A
c.1804G>A (p.Ala602Thr)
c.2041G>A (p.Ala681Thr)
dbSNP gnomAD v4
15g.74180092A=CA2187549690STRA6c.1992T= (p.Gly664=)
c.1968T= (p.Gly656=)
c.1965T= (p.Gly655=)
c.2103T= (p.Gly701=)
n.1701T=
c.2109T= (p.Gly703=)
c.2037T= (p.Gly679=)
n.2264T=
c.1803T= (p.Gly601=)
c.2040T= (p.Gly680=)
15g.74180092A>CCA491170269STRA6c.1992T>G (p.Gly664=)
c.1968T>G (p.Gly656=)
c.1965T>G (p.Gly655=)
c.2103T>G (p.Gly701=)
n.1701T>G
c.2109T>G (p.Gly703=)
c.2037T>G (p.Gly679=)
n.2264T>G
c.1803T>G (p.Gly601=)
c.2040T>G (p.Gly680=)
15g.74180092A>GCA7654372STRA6c.1992T>C (p.Gly664=)
c.1968T>C (p.Gly656=)
c.1965T>C (p.Gly655=)
c.2103T>C (p.Gly701=)
n.1701T>C
c.2109T>C (p.Gly703=)
c.2037T>C (p.Gly679=)
n.2264T>C
c.1803T>C (p.Gly601=)
c.2040T>C (p.Gly680=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180092A>TCA491170270STRA6c.1992T>A (p.Gly664=)
c.1968T>A (p.Gly656=)
c.1965T>A (p.Gly655=)
c.2103T>A (p.Gly701=)
n.1701T>A
c.2109T>A (p.Gly703=)
c.2037T>A (p.Gly679=)
n.2264T>A
c.1803T>A (p.Gly601=)
c.2040T>A (p.Gly680=)
15g.74180093C>ACA393128163STRA6c.1991G>T (p.Gly664Val)
c.1967G>T (p.Gly656Val)
c.1964G>T (p.Gly655Val)
c.2102G>T (p.Gly701Val)
n.1700G>T
c.2108G>T (p.Gly703Val)
c.2036G>T (p.Gly679Val)
n.2263G>T
c.1802G>T (p.Gly601Val)
c.2039G>T (p.Gly680Val)
15g.74180093C>GCA393128164STRA6c.1991G>C (p.Gly664Ala)
c.1967G>C (p.Gly656Ala)
c.1964G>C (p.Gly655Ala)
c.2102G>C (p.Gly701Ala)
n.1700G>C
c.2108G>C (p.Gly703Ala)
c.2036G>C (p.Gly679Ala)
n.2263G>C
c.1802G>C (p.Gly601Ala)
c.2039G>C (p.Gly680Ala)
15g.74180093C>TCA393128165STRA6c.1991G>A (p.Gly664Asp)
c.1967G>A (p.Gly656Asp)
c.1964G>A (p.Gly655Asp)
c.2102G>A (p.Gly701Asp)
n.1700G>A
c.2108G>A (p.Gly703Asp)
c.2036G>A (p.Gly679Asp)
n.2263G>A
c.1802G>A (p.Gly601Asp)
c.2039G>A (p.Gly680Asp)
15g.74180094C>ACA7654373STRA6c.1990G>T (p.Gly664Cys)
c.1966G>T (p.Gly656Cys)
c.1963G>T (p.Gly655Cys)
c.2101G>T (p.Gly701Cys)
n.1699G>T
c.2107G>T (p.Gly703Cys)
c.2035G>T (p.Gly679Cys)
n.2262G>T
c.1801G>T (p.Gly601Cys)
c.2038G>T (p.Gly680Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180094C=CA2187549691STRA6c.1990G= (p.Gly664=)
c.1966G= (p.Gly656=)
c.1963G= (p.Gly655=)
c.2101G= (p.Gly701=)
n.1699G=
c.2107G= (p.Gly703=)
c.2035G= (p.Gly679=)
n.2262G=
c.1801G= (p.Gly601=)
c.2038G= (p.Gly680=)
15g.74180094C>GCA393128166STRA6c.1990G>C (p.Gly664Arg)
c.1966G>C (p.Gly656Arg)
c.1963G>C (p.Gly655Arg)
c.2101G>C (p.Gly701Arg)
n.1699G>C
c.2107G>C (p.Gly703Arg)
c.2035G>C (p.Gly679Arg)
n.2262G>C
c.1801G>C (p.Gly601Arg)
c.2038G>C (p.Gly680Arg)
15g.74180094C>TCA393128167STRA6c.1990G>A (p.Gly664Ser)
c.1966G>A (p.Gly656Ser)
c.1963G>A (p.Gly655Ser)
c.2101G>A (p.Gly701Ser)
n.1699G>A
c.2107G>A (p.Gly703Ser)
c.2035G>A (p.Gly679Ser)
n.2262G>A
c.1801G>A (p.Gly601Ser)
c.2038G>A (p.Gly680Ser)
15g.74180095A>CCA393128168STRA6c.1989T>G (p.Asn663Lys)
c.1965T>G (p.Asn655Lys)
c.1962T>G (p.Asn654Lys)
c.2100T>G (p.Asn700Lys)
n.1698T>G
c.2106T>G (p.Asn702Lys)
c.2034T>G (p.Asn678Lys)
n.2261T>G
c.1800T>G (p.Asn600Lys)
c.2037T>G (p.Asn679Lys)
15g.74180095A>GCA491170271STRA6c.1989T>C (p.Asn663=)
c.1965T>C (p.Asn655=)
c.1962T>C (p.Asn654=)
c.2100T>C (p.Asn700=)
n.1698T>C
c.2106T>C (p.Asn702=)
c.2034T>C (p.Asn678=)
n.2261T>C
c.1800T>C (p.Asn600=)
c.2037T>C (p.Asn679=)
gnomAD v4
15g.74180095A>TCA393128169STRA6c.1989T>A (p.Asn663Lys)
c.1965T>A (p.Asn655Lys)
c.1962T>A (p.Asn654Lys)
c.2100T>A (p.Asn700Lys)
n.1698T>A
c.2106T>A (p.Asn702Lys)
c.2034T>A (p.Asn678Lys)
n.2261T>A
c.1800T>A (p.Asn600Lys)
c.2037T>A (p.Asn679Lys)
15g.74180096T>ACA393128170STRA6c.1988A>T (p.Asn663Ile)
c.1964A>T (p.Asn655Ile)
c.1961A>T (p.Asn654Ile)
c.2099A>T (p.Asn700Ile)
n.1697A>T
c.2105A>T (p.Asn702Ile)
c.2033A>T (p.Asn678Ile)
n.2260A>T
c.1799A>T (p.Asn600Ile)
c.2036A>T (p.Asn679Ile)
15g.74180096T>CCA7654374STRA6c.1988A>G (p.Asn663Ser)
c.1964A>G (p.Asn655Ser)
c.1961A>G (p.Asn654Ser)
c.2099A>G (p.Asn700Ser)
n.1697A>G
c.2105A>G (p.Asn702Ser)
c.2033A>G (p.Asn678Ser)
n.2260A>G
c.1799A>G (p.Asn600Ser)
c.2036A>G (p.Asn679Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180096T>GCA393128171STRA6c.1988A>C (p.Asn663Thr)
c.1964A>C (p.Asn655Thr)
c.1961A>C (p.Asn654Thr)
c.2099A>C (p.Asn700Thr)
n.1697A>C
c.2105A>C (p.Asn702Thr)
c.2033A>C (p.Asn678Thr)
n.2260A>C
c.1799A>C (p.Asn600Thr)
c.2036A>C (p.Asn679Thr)
15g.74180096T=CA2187549692STRA6c.1988A= (p.Asn663=)
c.1964A= (p.Asn655=)
c.1961A= (p.Asn654=)
c.2099A= (p.Asn700=)
n.1697A=
c.2105A= (p.Asn702=)
c.2033A= (p.Asn678=)
n.2260A=
c.1799A= (p.Asn600=)
c.2036A= (p.Asn679=)
15g.74180097T>ACA393128172STRA6c.1987A>T (p.Asn663Tyr)
c.1963A>T (p.Asn655Tyr)
c.1960A>T (p.Asn654Tyr)
c.2098A>T (p.Asn700Tyr)
n.1696A>T
c.2104A>T (p.Asn702Tyr)
c.2032A>T (p.Asn678Tyr)
n.2259A>T
c.1798A>T (p.Asn600Tyr)
c.2035A>T (p.Asn679Tyr)
15g.74180097T>CCA393128173STRA6c.1987A>G (p.Asn663Asp)
c.1963A>G (p.Asn655Asp)
c.1960A>G (p.Asn654Asp)
c.2098A>G (p.Asn700Asp)
n.1696A>G
c.2104A>G (p.Asn702Asp)
c.2032A>G (p.Asn678Asp)
n.2259A>G
c.1798A>G (p.Asn600Asp)
c.2035A>G (p.Asn679Asp)
15g.74180097T>GCA393128174STRA6c.1987A>C (p.Asn663His)
c.1963A>C (p.Asn655His)
c.1960A>C (p.Asn654His)
c.2098A>C (p.Asn700His)
n.1696A>C
c.2104A>C (p.Asn702His)
c.2032A>C (p.Asn678His)
n.2259A>C
c.1798A>C (p.Asn600His)
c.2035A>C (p.Asn679His)
15g.74180098G>ACA491170272STRA6c.1986C>T (p.Ala662=)
c.1962C>T (p.Ala654=)
c.1959C>T (p.Ala653=)
c.2097C>T (p.Ala699=)
n.1695C>T
c.2103C>T (p.Ala701=)
c.2031C>T (p.Ala677=)
n.2258C>T
c.1797C>T (p.Ala599=)
c.2034C>T (p.Ala678=)
15g.74180098G>CCA491170273STRA6c.1986C>G (p.Ala662=)
c.1962C>G (p.Ala654=)
c.1959C>G (p.Ala653=)
c.2097C>G (p.Ala699=)
n.1695C>G
c.2103C>G (p.Ala701=)
c.2031C>G (p.Ala677=)
n.2258C>G
c.1797C>G (p.Ala599=)
c.2034C>G (p.Ala678=)
dbSNP gnomAD v2 gnomAD v4
15g.74180098G=CA2187549693STRA6c.1986C= (p.Ala662=)
c.1962C= (p.Ala654=)
c.1959C= (p.Ala653=)
c.2097C= (p.Ala699=)
n.1695C=
c.2103C= (p.Ala701=)
c.2031C= (p.Ala677=)
n.2258C=
c.1797C= (p.Ala599=)
c.2034C= (p.Ala678=)
15g.74180098G>TCA491170274STRA6c.1986C>A (p.Ala662=)
c.1962C>A (p.Ala654=)
c.1959C>A (p.Ala653=)
c.2097C>A (p.Ala699=)
n.1695C>A
c.2103C>A (p.Ala701=)
c.2031C>A (p.Ala677=)
n.2258C>A
c.1797C>A (p.Ala599=)
c.2034C>A (p.Ala678=)
15g.74180099delCA2629451073STRA6c.1986del (p.Asn663MetfsTer?)
c.1962del (p.Asn655MetfsTer?)
c.1959del (p.Asn654MetfsTer?)
c.2097del (p.Asn700MetfsTer?)
n.1695del
c.2103del (p.Asn702MetfsTer?)
c.2031del (p.Asn678MetfsTer?)
n.2258del
c.1797del (p.Asn600MetfsTer?)
c.2034del (p.Asn679MetfsTer?)
gnomAD v4
15g.74180099G>ACA393128175STRA6c.1985C>T (p.Ala662Val)
c.1961C>T (p.Ala654Val)
c.1958C>T (p.Ala653Val)
c.2096C>T (p.Ala699Val)
n.1694C>T
c.2102C>T (p.Ala701Val)
c.2030C>T (p.Ala677Val)
n.2257C>T
c.1796C>T (p.Ala599Val)
c.2033C>T (p.Ala678Val)
15g.74180099G>CCA393128176STRA6c.1985C>G (p.Ala662Gly)
c.1961C>G (p.Ala654Gly)
c.1958C>G (p.Ala653Gly)
c.2096C>G (p.Ala699Gly)
n.1694C>G
c.2102C>G (p.Ala701Gly)
c.2030C>G (p.Ala677Gly)
n.2257C>G
c.1796C>G (p.Ala599Gly)
c.2033C>G (p.Ala678Gly)
15g.74180099G=CA2187549694STRA6c.1985C= (p.Ala662=)
c.1961C= (p.Ala654=)
c.1958C= (p.Ala653=)
c.2096C= (p.Ala699=)
n.1694C=
c.2102C= (p.Ala701=)
c.2030C= (p.Ala677=)
n.2257C=
c.1796C= (p.Ala599=)
c.2033C= (p.Ala678=)
15g.74180099G>TCA393128177STRA6c.1985C>A (p.Ala662Asp)
c.1961C>A (p.Ala654Asp)
c.1958C>A (p.Ala653Asp)
c.2096C>A (p.Ala699Asp)
n.1694C>A
c.2102C>A (p.Ala701Asp)
c.2030C>A (p.Ala677Asp)
n.2257C>A
c.1796C>A (p.Ala599Asp)
c.2033C>A (p.Ala678Asp)
dbSNP gnomAD v3 gnomAD v4
15g.74180100C>ACA393128178STRA6c.1984G>T (p.Ala662Ser)
c.1960G>T (p.Ala654Ser)
c.1957G>T (p.Ala653Ser)
c.2095G>T (p.Ala699Ser)
n.1693G>T
c.2101G>T (p.Ala701Ser)
c.2029G>T (p.Ala677Ser)
n.2256G>T
c.1795G>T (p.Ala599Ser)
c.2032G>T (p.Ala678Ser)
15g.74180100C>GCA393128179STRA6c.1984G>C (p.Ala662Pro)
c.1960G>C (p.Ala654Pro)
c.1957G>C (p.Ala653Pro)
c.2095G>C (p.Ala699Pro)
n.1693G>C
c.2101G>C (p.Ala701Pro)
c.2029G>C (p.Ala677Pro)
n.2256G>C
c.1795G>C (p.Ala599Pro)
c.2032G>C (p.Ala678Pro)
15g.74180100C>TCA393128180STRA6c.1984G>A (p.Ala662Thr)
c.1960G>A (p.Ala654Thr)
c.1957G>A (p.Ala653Thr)
c.2095G>A (p.Ala699Thr)
n.1693G>A
c.2101G>A (p.Ala701Thr)
c.2029G>A (p.Ala677Thr)
n.2256G>A
c.1795G>A (p.Ala599Thr)
c.2032G>A (p.Ala678Thr)
15g.74180101A=CA2187549695STRA6c.1983T= (p.Gly661=)
c.1959T= (p.Gly653=)
c.1956T= (p.Gly652=)
c.2094T= (p.Gly698=)
n.1692T=
c.2100T= (p.Gly700=)
c.2028T= (p.Gly676=)
n.2255T=
c.1794T= (p.Gly598=)
c.2031T= (p.Gly677=)
15g.74180101A>CCA491170275STRA6c.1983T>G (p.Gly661=)
c.1959T>G (p.Gly653=)
c.1956T>G (p.Gly652=)
c.2094T>G (p.Gly698=)
n.1692T>G
c.2100T>G (p.Gly700=)
c.2028T>G (p.Gly676=)
n.2255T>G
c.1794T>G (p.Gly598=)
c.2031T>G (p.Gly677=)
dbSNP
15g.74180101A>GCA491170276STRA6c.1983T>C (p.Gly661=)
c.1959T>C (p.Gly653=)
c.1956T>C (p.Gly652=)
c.2094T>C (p.Gly698=)
n.1692T>C
c.2100T>C (p.Gly700=)
c.2028T>C (p.Gly676=)
n.2255T>C
c.1794T>C (p.Gly598=)
c.2031T>C (p.Gly677=)
15g.74180101A>TCA491170277STRA6c.1983T>A (p.Gly661=)
c.1959T>A (p.Gly653=)
c.1956T>A (p.Gly652=)
c.2094T>A (p.Gly698=)
n.1692T>A
c.2100T>A (p.Gly700=)
c.2028T>A (p.Gly676=)
n.2255T>A
c.1794T>A (p.Gly598=)
c.2031T>A (p.Gly677=)
15g.74180102C>ACA393128181STRA6c.1982G>T (p.Gly661Val)
c.1958G>T (p.Gly653Val)
c.1955G>T (p.Gly652Val)
c.2093G>T (p.Gly698Val)
n.1691G>T
c.2099G>T (p.Gly700Val)
c.2027G>T (p.Gly676Val)
n.2254G>T
c.1793G>T (p.Gly598Val)
c.2030G>T (p.Gly677Val)
dbSNP
15g.74180102C=CA2187549696STRA6c.1982G= (p.Gly661=)
c.1958G= (p.Gly653=)
c.1955G= (p.Gly652=)
c.2093G= (p.Gly698=)
n.1691G=
c.2099G= (p.Gly700=)
c.2027G= (p.Gly676=)
n.2254G=
c.1793G= (p.Gly598=)
c.2030G= (p.Gly677=)
15g.74180102C>GCA393128182STRA6c.1982G>C (p.Gly661Ala)
c.1958G>C (p.Gly653Ala)
c.1955G>C (p.Gly652Ala)
c.2093G>C (p.Gly698Ala)
n.1691G>C
c.2099G>C (p.Gly700Ala)
c.2027G>C (p.Gly676Ala)
n.2254G>C
c.1793G>C (p.Gly598Ala)
c.2030G>C (p.Gly677Ala)
15g.74180102C>TCA7654375STRA6c.1982G>A (p.Gly661Asp)
c.1958G>A (p.Gly653Asp)
c.1955G>A (p.Gly652Asp)
c.2093G>A (p.Gly698Asp)
n.1691G>A
c.2099G>A (p.Gly700Asp)
c.2027G>A (p.Gly676Asp)
n.2254G>A
c.1793G>A (p.Gly598Asp)
c.2030G>A (p.Gly677Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180103C>ACA393128183STRA6c.1981G>T (p.Gly661Cys)
c.1957G>T (p.Gly653Cys)
c.1954G>T (p.Gly652Cys)
c.2092G>T (p.Gly698Cys)
n.1690G>T
c.2098G>T (p.Gly700Cys)
c.2026G>T (p.Gly676Cys)
n.2253G>T
c.1792G>T (p.Gly598Cys)
c.2029G>T (p.Gly677Cys)
15g.74180103C>GCA393128184STRA6c.1981G>C (p.Gly661Arg)
c.1957G>C (p.Gly653Arg)
c.1954G>C (p.Gly652Arg)
c.2092G>C (p.Gly698Arg)
n.1690G>C
c.2098G>C (p.Gly700Arg)
c.2026G>C (p.Gly676Arg)
n.2253G>C
c.1792G>C (p.Gly598Arg)
c.2029G>C (p.Gly677Arg)
15g.74180103C>TCA393128185STRA6c.1981G>A (p.Gly661Ser)
c.1957G>A (p.Gly653Ser)
c.1954G>A (p.Gly652Ser)
c.2092G>A (p.Gly698Ser)
n.1690G>A
c.2098G>A (p.Gly700Ser)
c.2026G>A (p.Gly676Ser)
n.2253G>A
c.1792G>A (p.Gly598Ser)
c.2029G>A (p.Gly677Ser)
15g.74180104C>ACA393128186STRA6c.1980G>T (p.Leu660Phe)
c.1956G>T (p.Leu652Phe)
c.1953G>T (p.Leu651Phe)
c.2091G>T (p.Leu697Phe)
n.1689G>T
c.2097G>T (p.Leu699Phe)
c.2025G>T (p.Leu675Phe)
n.2252G>T
c.1791G>T (p.Leu597Phe)
c.2028G>T (p.Leu676Phe)
COSMIC
15g.74180104C>GCA393128187STRA6c.1980G>C (p.Leu660Phe)
c.1956G>C (p.Leu652Phe)
c.1953G>C (p.Leu651Phe)
c.2091G>C (p.Leu697Phe)
n.1689G>C
c.2097G>C (p.Leu699Phe)
c.2025G>C (p.Leu675Phe)
n.2252G>C
c.1791G>C (p.Leu597Phe)
c.2028G>C (p.Leu676Phe)
gnomAD v4
15g.74180104C>TCA491170278STRA6c.1980G>A (p.Leu660=)
c.1956G>A (p.Leu652=)
c.1953G>A (p.Leu651=)
c.2091G>A (p.Leu697=)
n.1689G>A
c.2097G>A (p.Leu699=)
c.2025G>A (p.Leu675=)
n.2252G>A
c.1791G>A (p.Leu597=)
c.2028G>A (p.Leu676=)
15g.74180105A>CCA393128188STRA6c.1979T>G (p.Leu660Trp)
c.1955T>G (p.Leu652Trp)
c.1952T>G (p.Leu651Trp)
c.2090T>G (p.Leu697Trp)
n.1688T>G
c.2096T>G (p.Leu699Trp)
c.2024T>G (p.Leu675Trp)
n.2251T>G
c.1790T>G (p.Leu597Trp)
c.2027T>G (p.Leu676Trp)
15g.74180105A>GCA393128189STRA6c.1979T>C (p.Leu660Ser)
c.1955T>C (p.Leu652Ser)
c.1952T>C (p.Leu651Ser)
c.2090T>C (p.Leu697Ser)
n.1688T>C
c.2096T>C (p.Leu699Ser)
c.2024T>C (p.Leu675Ser)
n.2251T>C
c.1790T>C (p.Leu597Ser)
c.2027T>C (p.Leu676Ser)
15g.74180105A>TCA393128190STRA6c.1979T>A (p.Leu660Ter)
c.1955T>A (p.Leu652Ter)
c.1952T>A (p.Leu651Ter)
c.2090T>A (p.Leu697Ter)
n.1688T>A
c.2096T>A (p.Leu699Ter)
c.2024T>A (p.Leu675Ter)
n.2251T>A
c.1790T>A (p.Leu597Ter)
c.2027T>A (p.Leu676Ter)
15g.74180106A=CA2187549697STRA6c.1978T= (p.Leu660=)
c.1954T= (p.Leu652=)
c.1951T= (p.Leu651=)
c.2089T= (p.Leu697=)
n.1687T=
c.2095T= (p.Leu699=)
c.2023T= (p.Leu675=)
n.2250T=
c.1789T= (p.Leu597=)
c.2026T= (p.Leu676=)
15g.74180106A>CCA393128191STRA6c.1978T>G (p.Leu660Val)
c.1954T>G (p.Leu652Val)
c.1951T>G (p.Leu651Val)
c.2089T>G (p.Leu697Val)
n.1687T>G
c.2095T>G (p.Leu699Val)
c.2023T>G (p.Leu675Val)
n.2250T>G
c.1789T>G (p.Leu597Val)
c.2026T>G (p.Leu676Val)
15g.74180106A>GCA272746102STRA6c.1978T>C (p.Leu660=)
c.1954T>C (p.Leu652=)
c.1951T>C (p.Leu651=)
c.2089T>C (p.Leu697=)
n.1687T>C
c.2095T>C (p.Leu699=)
c.2023T>C (p.Leu675=)
n.2250T>C
c.1789T>C (p.Leu597=)
c.2026T>C (p.Leu676=)
dbSNP gnomAD v3 gnomAD v4
15g.74180106A>TCA393128192STRA6c.1978T>A (p.Leu660Met)
c.1954T>A (p.Leu652Met)
c.1951T>A (p.Leu651Met)
c.2089T>A (p.Leu697Met)
n.1687T>A
c.2095T>A (p.Leu699Met)
c.2023T>A (p.Leu675Met)
n.2250T>A
c.1789T>A (p.Leu597Met)
c.2026T>A (p.Leu676Met)
15g.74180107C>ACA491170281STRA6c.1977G>T (p.Leu659=)
c.1953G>T (p.Leu651=)
c.1950G>T (p.Leu650=)
c.2088G>T (p.Leu696=)
n.1686G>T
c.2094G>T (p.Leu698=)
c.2022G>T (p.Leu674=)
n.2249G>T
c.1788G>T (p.Leu596=)
c.2025G>T (p.Leu675=)
15g.74180107C>GCA491170280STRA6c.1977G>C (p.Leu659=)
c.1953G>C (p.Leu651=)
c.1950G>C (p.Leu650=)
c.2088G>C (p.Leu696=)
n.1686G>C
c.2094G>C (p.Leu698=)
c.2022G>C (p.Leu674=)
n.2249G>C
c.1788G>C (p.Leu596=)
c.2025G>C (p.Leu675=)
15g.74180107C>TCA491170279STRA6c.1977G>A (p.Leu659=)
c.1953G>A (p.Leu651=)
c.1950G>A (p.Leu650=)
c.2088G>A (p.Leu696=)
n.1686G>A
c.2094G>A (p.Leu698=)
c.2022G>A (p.Leu674=)
n.2249G>A
c.1788G>A (p.Leu596=)
c.2025G>A (p.Leu675=)
gnomAD v4
15g.74180108A>CCA393128193STRA6c.1976T>G (p.Leu659Arg)
c.1952T>G (p.Leu651Arg)
c.1949T>G (p.Leu650Arg)
c.2087T>G (p.Leu696Arg)
n.1685T>G
c.2093T>G (p.Leu698Arg)
c.2021T>G (p.Leu674Arg)
n.2248T>G
c.1787T>G (p.Leu596Arg)
c.2024T>G (p.Leu675Arg)
gnomAD v4
15g.74180108A>GCA393128194STRA6c.1976T>C (p.Leu659Pro)
c.1952T>C (p.Leu651Pro)
c.1949T>C (p.Leu650Pro)
c.2087T>C (p.Leu696Pro)
n.1685T>C
c.2093T>C (p.Leu698Pro)
c.2021T>C (p.Leu674Pro)
n.2248T>C
c.1787T>C (p.Leu596Pro)
c.2024T>C (p.Leu675Pro)
15g.74180108A>TCA393128195STRA6c.1976T>A (p.Leu659Gln)
c.1952T>A (p.Leu651Gln)
c.1949T>A (p.Leu650Gln)
c.2087T>A (p.Leu696Gln)
n.1685T>A
c.2093T>A (p.Leu698Gln)
c.2021T>A (p.Leu674Gln)
n.2248T>A
c.1787T>A (p.Leu596Gln)
c.2024T>A (p.Leu675Gln)
15g.74180109G>ACA7654376STRA6c.1975C>T (p.Leu659=)
c.1951C>T (p.Leu651=)
c.1948C>T (p.Leu650=)
c.2086C>T (p.Leu696=)
n.1684C>T
c.2092C>T (p.Leu698=)
c.2020C>T (p.Leu674=)
n.2247C>T
c.1786C>T (p.Leu596=)
c.2023C>T (p.Leu675=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180109G>CCA393128197STRA6c.1975C>G (p.Leu659Val)
c.1951C>G (p.Leu651Val)
c.1948C>G (p.Leu650Val)
c.2086C>G (p.Leu696Val)
n.1684C>G
c.2092C>G (p.Leu698Val)
c.2020C>G (p.Leu674Val)
n.2247C>G
c.1786C>G (p.Leu596Val)
c.2023C>G (p.Leu675Val)
15g.74180109G=CA2187549698STRA6c.1975C= (p.Leu659=)
c.1951C= (p.Leu651=)
c.1948C= (p.Leu650=)
c.2086C= (p.Leu696=)
n.1684C=
c.2092C= (p.Leu698=)
c.2020C= (p.Leu674=)
n.2247C=
c.1786C= (p.Leu596=)
c.2023C= (p.Leu675=)
15g.74180109G>TCA393128196STRA6c.1975C>A (p.Leu659Met)
c.1951C>A (p.Leu651Met)
c.1948C>A (p.Leu650Met)
c.2086C>A (p.Leu696Met)
n.1684C>A
c.2092C>A (p.Leu698Met)
c.2020C>A (p.Leu674Met)
n.2247C>A
c.1786C>A (p.Leu596Met)
c.2023C>A (p.Leu675Met)
15g.74180110G>ACA491170282STRA6c.1974C>T (p.Ala658=)
c.1950C>T (p.Ala650=)
c.1947C>T (p.Ala649=)
c.2085C>T (p.Ala695=)
n.1683C>T
c.2091C>T (p.Ala697=)
c.2019C>T (p.Ala673=)
n.2246C>T
c.1785C>T (p.Ala595=)
c.2022C>T (p.Ala674=)
dbSNP gnomAD v2
15g.74180110G>CCA491170284STRA6c.1974C>G (p.Ala658=)
c.1950C>G (p.Ala650=)
c.1947C>G (p.Ala649=)
c.2085C>G (p.Ala695=)
n.1683C>G
c.2091C>G (p.Ala697=)
c.2019C>G (p.Ala673=)
n.2246C>G
c.1785C>G (p.Ala595=)
c.2022C>G (p.Ala674=)
15g.74180110G=CA2187549699STRA6c.1974C= (p.Ala658=)
c.1950C= (p.Ala650=)
c.1947C= (p.Ala649=)
c.2085C= (p.Ala695=)
n.1683C=
c.2091C= (p.Ala697=)
c.2019C= (p.Ala673=)
n.2246C=
c.1785C= (p.Ala595=)
c.2022C= (p.Ala674=)
15g.74180110G>TCA491170283STRA6c.1974C>A (p.Ala658=)
c.1950C>A (p.Ala650=)
c.1947C>A (p.Ala649=)
c.2085C>A (p.Ala695=)
n.1683C>A
c.2091C>A (p.Ala697=)
c.2019C>A (p.Ala673=)
n.2246C>A
c.1785C>A (p.Ala595=)
c.2022C>A (p.Ala674=)
15g.74180111G>ACA393128198STRA6c.1973C>T (p.Ala658Val)
c.1949C>T (p.Ala650Val)
c.1946C>T (p.Ala649Val)
c.2084C>T (p.Ala695Val)
n.1682C>T
c.2090C>T (p.Ala697Val)
c.2018C>T (p.Ala673Val)
n.2245C>T
c.1784C>T (p.Ala595Val)
c.2021C>T (p.Ala674Val)
gnomAD v4
15g.74180111G>CCA393128199STRA6c.1973C>G (p.Ala658Gly)
c.1949C>G (p.Ala650Gly)
c.1946C>G (p.Ala649Gly)
c.2084C>G (p.Ala695Gly)
n.1682C>G
c.2090C>G (p.Ala697Gly)
c.2018C>G (p.Ala673Gly)
n.2245C>G
c.1784C>G (p.Ala595Gly)
c.2021C>G (p.Ala674Gly)
15g.74180111G>TCA393128200STRA6c.1973C>A (p.Ala658Asp)
c.1949C>A (p.Ala650Asp)
c.1946C>A (p.Ala649Asp)
c.2084C>A (p.Ala695Asp)
n.1682C>A
c.2090C>A (p.Ala697Asp)
c.2018C>A (p.Ala673Asp)
n.2245C>A
c.1784C>A (p.Ala595Asp)
c.2021C>A (p.Ala674Asp)
15g.74180112C>ACA393128201STRA6c.1972G>T (p.Ala658Ser)
c.1948G>T (p.Ala650Ser)
c.1945G>T (p.Ala649Ser)
c.2083G>T (p.Ala695Ser)
n.1681G>T
c.2089G>T (p.Ala697Ser)
c.2017G>T (p.Ala673Ser)
n.2244G>T
c.1783G>T (p.Ala595Ser)
c.2020G>T (p.Ala674Ser)
dbSNP gnomAD v2
15g.74180112C=CA2187549700STRA6c.1972G= (p.Ala658=)
c.1948G= (p.Ala650=)
c.1945G= (p.Ala649=)
c.2083G= (p.Ala695=)
n.1681G=
c.2089G= (p.Ala697=)
c.2017G= (p.Ala673=)
n.2244G=
c.1783G= (p.Ala595=)
c.2020G= (p.Ala674=)
15g.74180112C>GCA393128202STRA6c.1972G>C (p.Ala658Pro)
c.1948G>C (p.Ala650Pro)
c.1945G>C (p.Ala649Pro)
c.2083G>C (p.Ala695Pro)
n.1681G>C
c.2089G>C (p.Ala697Pro)
c.2017G>C (p.Ala673Pro)
n.2244G>C
c.1783G>C (p.Ala595Pro)
c.2020G>C (p.Ala674Pro)
15g.74180112C>TCA7654377STRA6c.1972G>A (p.Ala658Thr)
c.1948G>A (p.Ala650Thr)
c.1945G>A (p.Ala649Thr)
c.2083G>A (p.Ala695Thr)
n.1681G>A
c.2089G>A (p.Ala697Thr)
c.2017G>A (p.Ala673Thr)
n.2244G>A
c.1783G>A (p.Ala595Thr)
c.2020G>A (p.Ala674Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180113C>ACA491170285STRA6c.1971G>T (p.Thr657=)
c.1947G>T (p.Thr649=)
c.1944G>T (p.Thr648=)
c.2082G>T (p.Thr694=)
n.1680G>T
c.2088G>T (p.Thr696=)
c.2016G>T (p.Thr672=)
n.2243G>T
c.1782G>T (p.Thr594=)
c.2019G>T (p.Thr673=)
15g.74180113C=CA2187549701STRA6c.1971G= (p.Thr657=)
c.1947G= (p.Thr649=)
c.1944G= (p.Thr648=)
c.2082G= (p.Thr694=)
n.1680G=
c.2088G= (p.Thr696=)
c.2016G= (p.Thr672=)
n.2243G=
c.1782G= (p.Thr594=)
c.2019G= (p.Thr673=)
15g.74180113C>GCA491170286STRA6c.1971G>C (p.Thr657=)
c.1947G>C (p.Thr649=)
c.1944G>C (p.Thr648=)
c.2082G>C (p.Thr694=)
n.1680G>C
c.2088G>C (p.Thr696=)
c.2016G>C (p.Thr672=)
n.2243G>C
c.1782G>C (p.Thr594=)
c.2019G>C (p.Thr673=)
15g.74180113C>TCA7654378STRA6c.1971G>A (p.Thr657=)
c.1947G>A (p.Thr649=)
c.1944G>A (p.Thr648=)
c.2082G>A (p.Thr694=)
n.1680G>A
c.2088G>A (p.Thr696=)
c.2016G>A (p.Thr672=)
n.2243G>A
c.1782G>A (p.Thr594=)
c.2019G>A (p.Thr673=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180113_74180114insACTCCCTTTCACA2629451074STRA6c.1970_1971insTGAAAGGGAGT (p.Ala658GlufsTer?)
c.1946_1947insTGAAAGGGAGT (p.Ala650GlufsTer?)
c.1943_1944insTGAAAGGGAGT (p.Ala649GlufsTer?)
c.2081_2082insTGAAAGGGAGT (p.Ala695GlufsTer?)
n.1679_1680insTGAAAGGGAGT
c.2087_2088insTGAAAGGGAGT (p.Ala697GlufsTer?)
c.2015_2016insTGAAAGGGAGT (p.Ala673GlufsTer?)
n.2242_2243insTGAAAGGGAGT
c.1781_1782insTGAAAGGGAGT (p.Ala595GlufsTer?)
c.2018_2019insTGAAAGGGAGT (p.Ala674GlufsTer?)
gnomAD v4
15g.74180114G>ACA7654379STRA6c.1970C>T (p.Thr657Met)
c.1946C>T (p.Thr649Met)
c.1943C>T (p.Thr648Met)
c.2081C>T (p.Thr694Met)
n.1679C>T
c.2087C>T (p.Thr696Met)
c.2015C>T (p.Thr672Met)
n.2242C>T
c.1781C>T (p.Thr594Met)
c.2018C>T (p.Thr673Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180114G>CCA393128204STRA6c.1970C>G (p.Thr657Arg)
c.1946C>G (p.Thr649Arg)
c.1943C>G (p.Thr648Arg)
c.2081C>G (p.Thr694Arg)
n.1679C>G
c.2087C>G (p.Thr696Arg)
c.2015C>G (p.Thr672Arg)
n.2242C>G
c.1781C>G (p.Thr594Arg)
c.2018C>G (p.Thr673Arg)
15g.74180114G=CA2187549702STRA6c.1970C= (p.Thr657=)
c.1946C= (p.Thr649=)
c.1943C= (p.Thr648=)
c.2081C= (p.Thr694=)
n.1679C=
c.2087C= (p.Thr696=)
c.2015C= (p.Thr672=)
n.2242C=
c.1781C= (p.Thr594=)
c.2018C= (p.Thr673=)
15g.74180114G>TCA393128203STRA6c.1970C>A (p.Thr657Lys)
c.1946C>A (p.Thr649Lys)
c.1943C>A (p.Thr648Lys)
c.2081C>A (p.Thr694Lys)
n.1679C>A
c.2087C>A (p.Thr696Lys)
c.2015C>A (p.Thr672Lys)
n.2242C>A
c.1781C>A (p.Thr594Lys)
c.2018C>A (p.Thr673Lys)
dbSNP gnomAD v3 gnomAD v4
15g.74180114_74180115insCTTCACCATGGCCTCCTCA2629451076STRA6c.1969_1970insAGGAGGCCATGGTGAAG (p.Thr657LysfsTer?)
c.1945_1946insAGGAGGCCATGGTGAAG (p.Thr649LysfsTer?)
c.1942_1943insAGGAGGCCATGGTGAAG (p.Thr648LysfsTer?)
c.2080_2081insAGGAGGCCATGGTGAAG (p.Thr694LysfsTer?)
n.1678_1679insAGGAGGCCATGGTGAAG
c.2086_2087insAGGAGGCCATGGTGAAG (p.Thr696LysfsTer?)
c.2014_2015insAGGAGGCCATGGTGAAG (p.Thr672LysfsTer?)
n.2241_2242insAGGAGGCCATGGTGAAG
c.1780_1781insAGGAGGCCATGGTGAAG (p.Thr594LysfsTer?)
c.2017_2018insAGGAGGCCATGGTGAAG (p.Thr673LysfsTer?)
gnomAD v4
15g.74180115T>ACA393128205STRA6c.1969A>T (p.Thr657Ser)
c.1945A>T (p.Thr649Ser)
c.1942A>T (p.Thr648Ser)
c.2080A>T (p.Thr694Ser)
n.1678A>T
c.2086A>T (p.Thr696Ser)
c.2014A>T (p.Thr672Ser)
n.2241A>T
c.1780A>T (p.Thr594Ser)
c.2017A>T (p.Thr673Ser)
15g.74180115T>CCA393128206STRA6c.1969A>G (p.Thr657Ala)
c.1945A>G (p.Thr649Ala)
c.1942A>G (p.Thr648Ala)
c.2080A>G (p.Thr694Ala)
n.1678A>G
c.2086A>G (p.Thr696Ala)
c.2014A>G (p.Thr672Ala)
n.2241A>G
c.1780A>G (p.Thr594Ala)
c.2017A>G (p.Thr673Ala)
15g.74180115T>GCA393128207STRA6c.1969A>C (p.Thr657Pro)
c.1945A>C (p.Thr649Pro)
c.1942A>C (p.Thr648Pro)
c.2080A>C (p.Thr694Pro)
n.1678A>C
c.2086A>C (p.Thr696Pro)
c.2014A>C (p.Thr672Pro)
n.2241A>C
c.1780A>C (p.Thr594Pro)
c.2017A>C (p.Thr673Pro)
15g.74180116C>ACA393128208STRA6c.1968G>T (p.Lys656Asn)
c.1944G>T (p.Lys648Asn)
c.1941G>T (p.Lys647Asn)
c.2079G>T (p.Lys693Asn)
n.1677G>T
c.2085G>T (p.Lys695Asn)
c.2013G>T (p.Lys671Asn)
n.2240G>T
c.1779G>T (p.Lys593Asn)
c.2016G>T (p.Lys672Asn)
15g.74180116C>GCA393128209STRA6c.1968G>C (p.Lys656Asn)
c.1944G>C (p.Lys648Asn)
c.1941G>C (p.Lys647Asn)
c.2079G>C (p.Lys693Asn)
n.1677G>C
c.2085G>C (p.Lys695Asn)
c.2013G>C (p.Lys671Asn)
n.2240G>C
c.1779G>C (p.Lys593Asn)
c.2016G>C (p.Lys672Asn)
15g.74180116C>TCA491170288STRA6c.1968G>A (p.Lys656=)
c.1944G>A (p.Lys648=)
c.1941G>A (p.Lys647=)
c.2079G>A (p.Lys693=)
n.1677G>A
c.2085G>A (p.Lys695=)
c.2013G>A (p.Lys671=)
n.2240G>A
c.1779G>A (p.Lys593=)
c.2016G>A (p.Lys672=)
15g.74180117T>ACA393128211STRA6c.1967A>T (p.Lys656Met)
c.1943A>T (p.Lys648Met)
c.1940A>T (p.Lys647Met)
c.2078A>T (p.Lys693Met)
n.1676A>T
c.2084A>T (p.Lys695Met)
c.2012A>T (p.Lys671Met)
n.2239A>T
c.1778A>T (p.Lys593Met)
c.2015A>T (p.Lys672Met)
15g.74180117T>CCA393128212STRA6c.1967A>G (p.Lys656Arg)
c.1943A>G (p.Lys648Arg)
c.1940A>G (p.Lys647Arg)
c.2078A>G (p.Lys693Arg)
n.1676A>G
c.2084A>G (p.Lys695Arg)
c.2012A>G (p.Lys671Arg)
n.2239A>G
c.1778A>G (p.Lys593Arg)
c.2015A>G (p.Lys672Arg)
15g.74180117T>GCA393128210STRA6c.1967A>C (p.Lys656Thr)
c.1943A>C (p.Lys648Thr)
c.1940A>C (p.Lys647Thr)
c.2078A>C (p.Lys693Thr)
n.1676A>C
c.2084A>C (p.Lys695Thr)
c.2012A>C (p.Lys671Thr)
n.2239A>C
c.1778A>C (p.Lys593Thr)
c.2015A>C (p.Lys672Thr)
15g.74180118T>ACA393128213STRA6c.1966A>T (p.Lys656Ter)
c.1942A>T (p.Lys648Ter)
c.1939A>T (p.Lys647Ter)
c.2077A>T (p.Lys693Ter)
n.1675A>T
c.2083A>T (p.Lys695Ter)
c.2011A>T (p.Lys671Ter)
n.2238A>T
c.1777A>T (p.Lys593Ter)
c.2014A>T (p.Lys672Ter)
15g.74180118T>CCA393128215STRA6c.1966A>G (p.Lys656Glu)
c.1942A>G (p.Lys648Glu)
c.1939A>G (p.Lys647Glu)
c.2077A>G (p.Lys693Glu)
n.1675A>G
c.2083A>G (p.Lys695Glu)
c.2011A>G (p.Lys671Glu)
n.2238A>G
c.1777A>G (p.Lys593Glu)
c.2014A>G (p.Lys672Glu)
15g.74180118T>GCA393128214STRA6c.1966A>C (p.Lys656Gln)
c.1942A>C (p.Lys648Gln)
c.1939A>C (p.Lys647Gln)
c.2077A>C (p.Lys693Gln)
n.1675A>C
c.2083A>C (p.Lys695Gln)
c.2011A>C (p.Lys671Gln)
n.2238A>C
c.1777A>C (p.Lys593Gln)
c.2014A>C (p.Lys672Gln)
gnomAD v4
15g.74180119G>ACA491170289STRA6c.1965C>T (p.Arg655=)
c.1941C>T (p.Arg647=)
c.1938C>T (p.Arg646=)
c.2076C>T (p.Arg692=)
n.1674C>T
c.2082C>T (p.Arg694=)
c.2010C>T (p.Arg670=)
n.2237C>T
c.1776C>T (p.Arg592=)
c.2013C>T (p.Arg671=)
dbSNP gnomAD v4
15g.74180119G>CCA491170290STRA6c.1965C>G (p.Arg655=)
c.1941C>G (p.Arg647=)
c.1938C>G (p.Arg646=)
c.2076C>G (p.Arg692=)
n.1674C>G
c.2082C>G (p.Arg694=)
c.2010C>G (p.Arg670=)
n.2237C>G
c.1776C>G (p.Arg592=)
c.2013C>G (p.Arg671=)
15g.74180119G=CA2187549703STRA6c.1965C= (p.Arg655=)
c.1941C= (p.Arg647=)
c.1938C= (p.Arg646=)
c.2076C= (p.Arg692=)
n.1674C=
c.2082C= (p.Arg694=)
c.2010C= (p.Arg670=)
n.2237C=
c.1776C= (p.Arg592=)
c.2013C= (p.Arg671=)
15g.74180119G>TCA491170291STRA6c.1965C>A (p.Arg655=)
c.1941C>A (p.Arg647=)
c.1938C>A (p.Arg646=)
c.2076C>A (p.Arg692=)
n.1674C>A
c.2082C>A (p.Arg694=)
c.2010C>A (p.Arg670=)
n.2237C>A
c.1776C>A (p.Arg592=)
c.2013C>A (p.Arg671=)
15g.74180120C>ACA272746106STRA6c.1964G>T (p.Arg655Leu)
c.1940G>T (p.Arg647Leu)
c.1937G>T (p.Arg646Leu)
c.2075G>T (p.Arg692Leu)
n.1673G>T
c.2081G>T (p.Arg694Leu)
c.2009G>T (p.Arg670Leu)
n.2236G>T
c.1775G>T (p.Arg592Leu)
c.2012G>T (p.Arg671Leu)
dbSNP gnomAD v2 gnomAD v4
15g.74180120C=CA2187549704STRA6c.1964G= (p.Arg655=)
c.1940G= (p.Arg647=)
c.1937G= (p.Arg646=)
c.2075G= (p.Arg692=)
n.1673G=
c.2081G= (p.Arg694=)
c.2009G= (p.Arg670=)
n.2236G=
c.1775G= (p.Arg592=)
c.2012G= (p.Arg671=)
15g.74180120C>GCA393128216STRA6c.1964G>C (p.Arg655Pro)
c.1940G>C (p.Arg647Pro)
c.1937G>C (p.Arg646Pro)
c.2075G>C (p.Arg692Pro)
n.1673G>C
c.2081G>C (p.Arg694Pro)
c.2009G>C (p.Arg670Pro)
n.2236G>C
c.1775G>C (p.Arg592Pro)
c.2012G>C (p.Arg671Pro)
15g.74180120C>TCA130738STRA6c.1964G>A (p.Arg655His)
c.1940G>A (p.Arg647His)
c.1937G>A (p.Arg646His)
c.2075G>A (p.Arg692His)
n.1673G>A
c.2081G>A (p.Arg694His)
c.2009G>A (p.Arg670His)
n.2236G>A
c.1775G>A (p.Arg592His)
c.2012G>A (p.Arg671His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.74180120_74180121delinsCGCA2187549705STRA6c.1963_1964delinsCG (p.Arg655=)
c.1939_1940delinsCG (p.Arg647=)
c.1936_1937delinsCG (p.Arg646=)
c.2074_2075delinsCG (p.Arg692=)
n.1672_1673delinsCG
c.2080_2081delinsCG (p.Arg694=)
c.2008_2009delinsCG (p.Arg670=)
n.2235_2236delinsCG
c.1774_1775delinsCG (p.Arg592=)
c.2011_2012delinsCG (p.Arg671=)
15g.74180121G>ACA114787STRA6c.1963C>T (p.Arg655Cys)
c.1939C>T (p.Arg647Cys)
c.1936C>T (p.Arg646Cys)
c.2074C>T (p.Arg692Cys)
n.1672C>T
c.2080C>T (p.Arg694Cys)
c.2008C>T (p.Arg670Cys)
n.2235C>T
c.1774C>T (p.Arg592Cys)
c.2011C>T (p.Arg671Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180121G>CCA393128217STRA6c.1963C>G (p.Arg655Gly)
c.1939C>G (p.Arg647Gly)
c.1936C>G (p.Arg646Gly)
c.2074C>G (p.Arg692Gly)
n.1672C>G
c.2080C>G (p.Arg694Gly)
c.2008C>G (p.Arg670Gly)
n.2235C>G
c.1774C>G (p.Arg592Gly)
c.2011C>G (p.Arg671Gly)
15g.74180121G=CA2187549707STRA6c.1963C= (p.Arg655=)
c.1939C= (p.Arg647=)
c.1936C= (p.Arg646=)
c.2074C= (p.Arg692=)
n.1672C=
c.2080C= (p.Arg694=)
c.2008C= (p.Arg670=)
n.2235C=
c.1774C= (p.Arg592=)
c.2011C= (p.Arg671=)
15g.74180121G>TCA393128218STRA6c.1963C>A (p.Arg655Ser)
c.1939C>A (p.Arg647Ser)
c.1936C>A (p.Arg646Ser)
c.2074C>A (p.Arg692Ser)
n.1672C>A
c.2080C>A (p.Arg694Ser)
c.2008C>A (p.Arg670Ser)
n.2235C>A
c.1774C>A (p.Arg592Ser)
c.2011C>A (p.Arg671Ser)
COSMIC COSMIC
15g.74180122delCA2187549706STRA6c.1963del (p.Arg655AlafsTer?)
c.1939del (p.Arg647AlafsTer?)
c.1936del (p.Arg646AlafsTer?)
c.2074del (p.Arg692AlafsTer?)
n.1672del
c.2080del (p.Arg694AlafsTer?)
c.2008del (p.Arg670AlafsTer?)
n.2235del
c.1774del (p.Arg592AlafsTer?)
c.2011del (p.Arg671AlafsTer?)
dbSNP gnomAD v4
15g.74180122G>ACA491170292STRA6c.1962C>T (p.Phe654=)
c.1938C>T (p.Phe646=)
c.1935C>T (p.Phe645=)
c.2073C>T (p.Phe691=)
n.1671C>T
c.2079C>T (p.Phe693=)
c.2007C>T (p.Phe669=)
n.2234C>T
c.1773C>T (p.Phe591=)
c.2010C>T (p.Phe670=)
gnomAD v4
15g.74180122G>CCA393128219STRA6c.1962C>G (p.Phe654Leu)
c.1938C>G (p.Phe646Leu)
c.1935C>G (p.Phe645Leu)
c.2073C>G (p.Phe691Leu)
n.1671C>G
c.2079C>G (p.Phe693Leu)
c.2007C>G (p.Phe669Leu)
n.2234C>G
c.1773C>G (p.Phe591Leu)
c.2010C>G (p.Phe670Leu)
15g.74180122G>TCA393128220STRA6c.1962C>A (p.Phe654Leu)
c.1938C>A (p.Phe646Leu)
c.1935C>A (p.Phe645Leu)
c.2073C>A (p.Phe691Leu)
n.1671C>A
c.2079C>A (p.Phe693Leu)
c.2007C>A (p.Phe669Leu)
n.2234C>A
c.1773C>A (p.Phe591Leu)
c.2010C>A (p.Phe670Leu)
15g.74180123A>CCA393128221STRA6c.1961T>G (p.Phe654Cys)
c.1937T>G (p.Phe646Cys)
c.1934T>G (p.Phe645Cys)
c.2072T>G (p.Phe691Cys)
n.1670T>G
c.2078T>G (p.Phe693Cys)
c.2006T>G (p.Phe669Cys)
n.2233T>G
c.1772T>G (p.Phe591Cys)
c.2009T>G (p.Phe670Cys)
15g.74180123A>GCA393128222STRA6c.1961T>C (p.Phe654Ser)
c.1937T>C (p.Phe646Ser)
c.1934T>C (p.Phe645Ser)
c.2072T>C (p.Phe691Ser)
n.1670T>C
c.2078T>C (p.Phe693Ser)
c.2006T>C (p.Phe669Ser)
n.2233T>C
c.1772T>C (p.Phe591Ser)
c.2009T>C (p.Phe670Ser)
15g.74180123A>TCA393128223STRA6c.1961T>A (p.Phe654Tyr)
c.1937T>A (p.Phe646Tyr)
c.1934T>A (p.Phe645Tyr)
c.2072T>A (p.Phe691Tyr)
n.1670T>A
c.2078T>A (p.Phe693Tyr)
c.2006T>A (p.Phe669Tyr)
n.2233T>A
c.1772T>A (p.Phe591Tyr)
c.2009T>A (p.Phe670Tyr)
15g.74180124A>CCA393128224STRA6c.1960T>G (p.Phe654Val)
c.1936T>G (p.Phe646Val)
c.1933T>G (p.Phe645Val)
c.2071T>G (p.Phe691Val)
n.1669T>G
c.2077T>G (p.Phe693Val)
c.2005T>G (p.Phe669Val)
n.2232T>G
c.1771T>G (p.Phe591Val)
c.2008T>G (p.Phe670Val)
15g.74180124A>GCA393128225STRA6c.1960T>C (p.Phe654Leu)
c.1936T>C (p.Phe646Leu)
c.1933T>C (p.Phe645Leu)
c.2071T>C (p.Phe691Leu)
n.1669T>C
c.2077T>C (p.Phe693Leu)
c.2005T>C (p.Phe669Leu)
n.2232T>C
c.1771T>C (p.Phe591Leu)
c.2008T>C (p.Phe670Leu)
15g.74180124A>TCA393128226STRA6c.1960T>A (p.Phe654Ile)
c.1936T>A (p.Phe646Ile)
c.1933T>A (p.Phe645Ile)
c.2071T>A (p.Phe691Ile)
n.1669T>A
c.2077T>A (p.Phe693Ile)
c.2005T>A (p.Phe669Ile)
n.2232T>A
c.1771T>A (p.Phe591Ile)
c.2008T>A (p.Phe670Ile)
15g.74180125G>ACA491170295STRA6c.1959C>T (p.Val653=)
c.1935C>T (p.Val645=)
c.1932C>T (p.Val644=)
c.2070C>T (p.Val690=)
n.1668C>T
c.2076C>T (p.Val692=)
c.2004C>T (p.Val668=)
n.2231C>T
c.1770C>T (p.Val590=)
c.2007C>T (p.Val669=)
15g.74180125G>CCA491170294STRA6c.1959C>G (p.Val653=)
c.1935C>G (p.Val645=)
c.1932C>G (p.Val644=)
c.2070C>G (p.Val690=)
n.1668C>G
c.2076C>G (p.Val692=)
c.2004C>G (p.Val668=)
n.2231C>G
c.1770C>G (p.Val590=)
c.2007C>G (p.Val669=)
15g.74180125G>TCA491170293STRA6c.1959C>A (p.Val653=)
c.1935C>A (p.Val645=)
c.1932C>A (p.Val644=)
c.2070C>A (p.Val690=)
n.1668C>A
c.2076C>A (p.Val692=)
c.2004C>A (p.Val668=)
n.2231C>A
c.1770C>A (p.Val590=)
c.2007C>A (p.Val669=)
15g.74180126A>CCA393128229STRA6c.1958T>G (p.Val653Gly)
c.1934T>G (p.Val645Gly)
c.1931T>G (p.Val644Gly)
c.2069T>G (p.Val690Gly)
n.1667T>G
c.2075T>G (p.Val692Gly)
c.2003T>G (p.Val668Gly)
n.2230T>G
c.1769T>G (p.Val590Gly)
c.2006T>G (p.Val669Gly)
15g.74180126A>GCA393128228STRA6c.1958T>C (p.Val653Ala)
c.1934T>C (p.Val645Ala)
c.1931T>C (p.Val644Ala)
c.2069T>C (p.Val690Ala)
n.1667T>C
c.2075T>C (p.Val692Ala)
c.2003T>C (p.Val668Ala)
n.2230T>C
c.1769T>C (p.Val590Ala)
c.2006T>C (p.Val669Ala)
15g.74180126A>TCA393128227STRA6c.1958T>A (p.Val653Asp)
c.1934T>A (p.Val645Asp)
c.1931T>A (p.Val644Asp)
c.2069T>A (p.Val690Asp)
n.1667T>A
c.2075T>A (p.Val692Asp)
c.2003T>A (p.Val668Asp)
n.2230T>A
c.1769T>A (p.Val590Asp)
c.2006T>A (p.Val669Asp)
gnomAD v4
15g.74180127C>ACA393128230STRA6c.1957G>T (p.Val653Phe)
c.1933G>T (p.Val645Phe)
c.1930G>T (p.Val644Phe)
c.2068G>T (p.Val690Phe)
n.1666G>T
c.2074G>T (p.Val692Phe)
c.2002G>T (p.Val668Phe)
n.2229G>T
c.1768G>T (p.Val590Phe)
c.2005G>T (p.Val669Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.74180127C=CA2187549708STRA6c.1957G= (p.Val653=)
c.1933G= (p.Val645=)
c.1930G= (p.Val644=)
c.2068G= (p.Val690=)
n.1666G=
c.2074G= (p.Val692=)
c.2002G= (p.Val668=)
n.2229G=
c.1768G= (p.Val590=)
c.2005G= (p.Val669=)
15g.74180127C>GCA393128231STRA6c.1957G>C (p.Val653Leu)
c.1933G>C (p.Val645Leu)
c.1930G>C (p.Val644Leu)
c.2068G>C (p.Val690Leu)
n.1666G>C
c.2074G>C (p.Val692Leu)
c.2002G>C (p.Val668Leu)
n.2229G>C
c.1768G>C (p.Val590Leu)
c.2005G>C (p.Val669Leu)
15g.74180127C>TCA7654380STRA6c.1957G>A (p.Val653Ile)
c.1933G>A (p.Val645Ile)
c.1930G>A (p.Val644Ile)
c.2068G>A (p.Val690Ile)
n.1666G>A
c.2074G>A (p.Val692Ile)
c.2002G>A (p.Val668Ile)
n.2229G>A
c.1768G>A (p.Val590Ile)
c.2005G>A (p.Val669Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180128C>ACA393128232STRA6c.1956G>T (p.Gln652His)
c.1932G>T (p.Gln644His)
c.1929G>T (p.Gln643His)
c.2067G>T (p.Gln689His)
n.1665G>T
c.2073G>T (p.Gln691His)
c.2001G>T (p.Gln667His)
n.2228G>T
c.1767G>T (p.Gln589His)
c.2004G>T (p.Gln668His)
15g.74180128C>GCA393128233STRA6c.1956G>C (p.Gln652His)
c.1932G>C (p.Gln644His)
c.1929G>C (p.Gln643His)
c.2067G>C (p.Gln689His)
n.1665G>C
c.2073G>C (p.Gln691His)
c.2001G>C (p.Gln667His)
n.2228G>C
c.1767G>C (p.Gln589His)
c.2004G>C (p.Gln668His)
15g.74180128C>TCA491170296STRA6c.1956G>A (p.Gln652=)
c.1932G>A (p.Gln644=)
c.1929G>A (p.Gln643=)
c.2067G>A (p.Gln689=)
n.1665G>A
c.2073G>A (p.Gln691=)
c.2001G>A (p.Gln667=)
n.2228G>A
c.1767G>A (p.Gln589=)
c.2004G>A (p.Gln668=)
15g.74180129T>ACA393128234STRA6c.1955A>T (p.Gln652Leu)
c.1931A>T (p.Gln644Leu)
c.1928A>T (p.Gln643Leu)
c.2066A>T (p.Gln689Leu)
n.1664A>T
c.2072A>T (p.Gln691Leu)
c.2000A>T (p.Gln667Leu)
n.2227A>T
c.1766A>T (p.Gln589Leu)
c.2003A>T (p.Gln668Leu)
gnomAD v4
15g.74180129T>CCA393128235STRA6c.1955A>G (p.Gln652Arg)
c.1931A>G (p.Gln644Arg)
c.1928A>G (p.Gln643Arg)
c.2066A>G (p.Gln689Arg)
n.1664A>G
c.2072A>G (p.Gln691Arg)
c.2000A>G (p.Gln667Arg)
n.2227A>G
c.1766A>G (p.Gln589Arg)
c.2003A>G (p.Gln668Arg)
15g.74180129T>GCA393128236STRA6c.1955A>C (p.Gln652Pro)
c.1931A>C (p.Gln644Pro)
c.1928A>C (p.Gln643Pro)
c.2066A>C (p.Gln689Pro)
n.1664A>C
c.2072A>C (p.Gln691Pro)
c.2000A>C (p.Gln667Pro)
n.2227A>C
c.1766A>C (p.Gln589Pro)
c.2003A>C (p.Gln668Pro)
15g.74180130G>ACA393128237STRA6c.1954C>T (p.Gln652Ter)
c.1930C>T (p.Gln644Ter)
c.1927C>T (p.Gln643Ter)
c.2065C>T (p.Gln689Ter)
n.1663C>T
c.2071C>T (p.Gln691Ter)
c.1999C>T (p.Gln667Ter)
n.2226C>T
c.1765C>T (p.Gln589Ter)
c.2002C>T (p.Gln668Ter)
15g.74180130G>CCA393128238STRA6c.1954C>G (p.Gln652Glu)
c.1930C>G (p.Gln644Glu)
c.1927C>G (p.Gln643Glu)
c.2065C>G (p.Gln689Glu)
n.1663C>G
c.2071C>G (p.Gln691Glu)
c.1999C>G (p.Gln667Glu)
n.2226C>G
c.1765C>G (p.Gln589Glu)
c.2002C>G (p.Gln668Glu)
15g.74180130G>TCA393128239STRA6c.1954C>A (p.Gln652Lys)
c.1930C>A (p.Gln644Lys)
c.1927C>A (p.Gln643Lys)
c.2065C>A (p.Gln689Lys)
n.1663C>A
c.2071C>A (p.Gln691Lys)
c.1999C>A (p.Gln667Lys)
n.2226C>A
c.1765C>A (p.Gln589Lys)
c.2002C>A (p.Gln668Lys)
15g.74180131C>ACA491170299STRA6c.1953G>T (p.Leu651=)
c.1929G>T (p.Leu643=)
c.1926G>T (p.Leu642=)
c.2064G>T (p.Leu688=)
n.1662G>T
c.2070G>T (p.Leu690=)
c.1998G>T (p.Leu666=)
n.2225G>T
c.1764G>T (p.Leu588=)
c.2001G>T (p.Leu667=)
dbSNP gnomAD v2 gnomAD v4
15g.74180131C=CA2187549709STRA6c.1953G= (p.Leu651=)
c.1929G= (p.Leu643=)
c.1926G= (p.Leu642=)
c.2064G= (p.Leu688=)
n.1662G=
c.2070G= (p.Leu690=)
c.1998G= (p.Leu666=)
n.2225G=
c.1764G= (p.Leu588=)
c.2001G= (p.Leu667=)
15g.74180131C>GCA491170297STRA6c.1953G>C (p.Leu651=)
c.1929G>C (p.Leu643=)
c.1926G>C (p.Leu642=)
c.2064G>C (p.Leu688=)
n.1662G>C
c.2070G>C (p.Leu690=)
c.1998G>C (p.Leu666=)
n.2225G>C
c.1764G>C (p.Leu588=)
c.2001G>C (p.Leu667=)
15g.74180131C>TCA491170298STRA6c.1953G>A (p.Leu651=)
c.1929G>A (p.Leu643=)
c.1926G>A (p.Leu642=)
c.2064G>A (p.Leu688=)
n.1662G>A
c.2070G>A (p.Leu690=)
c.1998G>A (p.Leu666=)
n.2225G>A
c.1764G>A (p.Leu588=)
c.2001G>A (p.Leu667=)
gnomAD v4
15g.74180132A>CCA393128242STRA6c.1952T>G (p.Leu651Arg)
c.1928T>G (p.Leu643Arg)
c.1925T>G (p.Leu642Arg)
c.2063T>G (p.Leu688Arg)
n.1661T>G
c.2069T>G (p.Leu690Arg)
c.1997T>G (p.Leu666Arg)
n.2224T>G
c.1763T>G (p.Leu588Arg)
c.2000T>G (p.Leu667Arg)
15g.74180132A>GCA393128241STRA6c.1952T>C (p.Leu651Pro)
c.1928T>C (p.Leu643Pro)
c.1925T>C (p.Leu642Pro)
c.2063T>C (p.Leu688Pro)
n.1661T>C
c.2069T>C (p.Leu690Pro)
c.1997T>C (p.Leu666Pro)
n.2224T>C
c.1763T>C (p.Leu588Pro)
c.2000T>C (p.Leu667Pro)
15g.74180132A>TCA393128240STRA6c.1952T>A (p.Leu651Gln)
c.1928T>A (p.Leu643Gln)
c.1925T>A (p.Leu642Gln)
c.2063T>A (p.Leu688Gln)
n.1661T>A
c.2069T>A (p.Leu690Gln)
c.1997T>A (p.Leu666Gln)
n.2224T>A
c.1763T>A (p.Leu588Gln)
c.2000T>A (p.Leu667Gln)
15g.74180133G>ACA491170300STRA6c.1951C>T (p.Leu651=)
c.1927C>T (p.Leu643=)
c.1924C>T (p.Leu642=)
c.2062C>T (p.Leu688=)
n.1660C>T
c.2068C>T (p.Leu690=)
c.1996C>T (p.Leu666=)
n.2223C>T
c.1762C>T (p.Leu588=)
c.1999C>T (p.Leu667=)
15g.74180133G>CCA393128243STRA6c.1951C>G (p.Leu651Val)
c.1927C>G (p.Leu643Val)
c.1924C>G (p.Leu642Val)
c.2062C>G (p.Leu688Val)
n.1660C>G
c.2068C>G (p.Leu690Val)
c.1996C>G (p.Leu666Val)
n.2223C>G
c.1762C>G (p.Leu588Val)
c.1999C>G (p.Leu667Val)
15g.74180133G>TCA393128244STRA6c.1951C>A (p.Leu651Met)
c.1927C>A (p.Leu643Met)
c.1924C>A (p.Leu642Met)
c.2062C>A (p.Leu688Met)
n.1660C>A
c.2068C>A (p.Leu690Met)
c.1996C>A (p.Leu666Met)
n.2223C>A
c.1762C>A (p.Leu588Met)
c.1999C>A (p.Leu667Met)
15g.74180134G>ACA7654381STRA6c.1950C>T (p.Thr650=)
c.1926C>T (p.Thr642=)
c.1923C>T (p.Thr641=)
c.2061C>T (p.Thr687=)
n.1659C>T
c.2067C>T (p.Thr689=)
c.1995C>T (p.Thr665=)
n.2222C>T
c.1761C>T (p.Thr587=)
c.1998C>T (p.Thr666=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180134G>CCA491170301STRA6c.1950C>G (p.Thr650=)
c.1926C>G (p.Thr642=)
c.1923C>G (p.Thr641=)
c.2061C>G (p.Thr687=)
n.1659C>G
c.2067C>G (p.Thr689=)
c.1995C>G (p.Thr665=)
n.2222C>G
c.1761C>G (p.Thr587=)
c.1998C>G (p.Thr666=)
15g.74180134G=CA2187549710STRA6c.1950C= (p.Thr650=)
c.1926C= (p.Thr642=)
c.1923C= (p.Thr641=)
c.2061C= (p.Thr687=)
n.1659C=
c.2067C= (p.Thr689=)
c.1995C= (p.Thr665=)
n.2222C=
c.1761C= (p.Thr587=)
c.1998C= (p.Thr666=)
15g.74180134G>TCA491170302STRA6c.1950C>A (p.Thr650=)
c.1926C>A (p.Thr642=)
c.1923C>A (p.Thr641=)
c.2061C>A (p.Thr687=)
n.1659C>A
c.2067C>A (p.Thr689=)
c.1995C>A (p.Thr665=)
n.2222C>A
c.1761C>A (p.Thr587=)
c.1998C>A (p.Thr666=)
15g.74180135G>ACA393128245STRA6c.1949C>T (p.Thr650Ile)
c.1925C>T (p.Thr642Ile)
c.1922C>T (p.Thr641Ile)
c.2060C>T (p.Thr687Ile)
n.1658C>T
c.2066C>T (p.Thr689Ile)
c.1994C>T (p.Thr665Ile)
n.2221C>T
c.1760C>T (p.Thr587Ile)
c.1997C>T (p.Thr666Ile)
15g.74180135G>CCA393128246STRA6c.1949C>G (p.Thr650Ser)
c.1925C>G (p.Thr642Ser)
c.1922C>G (p.Thr641Ser)
c.2060C>G (p.Thr687Ser)
n.1658C>G
c.2066C>G (p.Thr689Ser)
c.1994C>G (p.Thr665Ser)
n.2221C>G
c.1760C>G (p.Thr587Ser)
c.1997C>G (p.Thr666Ser)
15g.74180135G>TCA393128247STRA6c.1949C>A (p.Thr650Asn)
c.1925C>A (p.Thr642Asn)
c.1922C>A (p.Thr641Asn)
c.2060C>A (p.Thr687Asn)
n.1658C>A
c.2066C>A (p.Thr689Asn)
c.1994C>A (p.Thr665Asn)
n.2221C>A
c.1760C>A (p.Thr587Asn)
c.1997C>A (p.Thr666Asn)
15g.74180136T>ACA393128248STRA6c.1948A>T (p.Thr650Ser)
c.1924A>T (p.Thr642Ser)
c.1921A>T (p.Thr641Ser)
c.2059A>T (p.Thr687Ser)
n.1657A>T
c.2065A>T (p.Thr689Ser)
c.1993A>T (p.Thr665Ser)
n.2220A>T
c.1759A>T (p.Thr587Ser)
c.1996A>T (p.Thr666Ser)
15g.74180136T>CCA7654382STRA6c.1948A>G (p.Thr650Ala)
c.1924A>G (p.Thr642Ala)
c.1921A>G (p.Thr641Ala)
c.2059A>G (p.Thr687Ala)
n.1657A>G
c.2065A>G (p.Thr689Ala)
c.1993A>G (p.Thr665Ala)
n.2220A>G
c.1759A>G (p.Thr587Ala)
c.1996A>G (p.Thr666Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180136T>GCA393128249STRA6c.1948A>C (p.Thr650Pro)
c.1924A>C (p.Thr642Pro)
c.1921A>C (p.Thr641Pro)
c.2059A>C (p.Thr687Pro)
n.1657A>C
c.2065A>C (p.Thr689Pro)
c.1993A>C (p.Thr665Pro)
n.2220A>C
c.1759A>C (p.Thr587Pro)
c.1996A>C (p.Thr666Pro)
dbSNP gnomAD v2 gnomAD v4
15g.74180136T=CA2187549711STRA6c.1948A= (p.Thr650=)
c.1924A= (p.Thr642=)
c.1921A= (p.Thr641=)
c.2059A= (p.Thr687=)
n.1657A=
c.2065A= (p.Thr689=)
c.1993A= (p.Thr665=)
n.2220A=
c.1759A= (p.Thr587=)
c.1996A= (p.Thr666=)
15g.74180137T>ACA491170305STRA6c.1947A>T (p.Pro649=)
c.1923A>T (p.Pro641=)
c.1920A>T (p.Pro640=)
c.2058A>T (p.Pro686=)
n.1656A>T
c.2064A>T (p.Pro688=)
c.1992A>T (p.Pro664=)
n.2219A>T
c.1758A>T (p.Pro586=)
c.1995A>T (p.Pro665=)
15g.74180137T>CCA491170303STRA6c.1947A>G (p.Pro649=)
c.1923A>G (p.Pro641=)
c.1920A>G (p.Pro640=)
c.2058A>G (p.Pro686=)
n.1656A>G
c.2064A>G (p.Pro688=)
c.1992A>G (p.Pro664=)
n.2219A>G
c.1758A>G (p.Pro586=)
c.1995A>G (p.Pro665=)
gnomAD v4
15g.74180137T>GCA491170304STRA6c.1947A>C (p.Pro649=)
c.1923A>C (p.Pro641=)
c.1920A>C (p.Pro640=)
c.2058A>C (p.Pro686=)
n.1656A>C
c.2064A>C (p.Pro688=)
c.1992A>C (p.Pro664=)
n.2219A>C
c.1758A>C (p.Pro586=)
c.1995A>C (p.Pro665=)
15g.74180138G>ACA393128250STRA6c.1946C>T (p.Pro649Leu)
c.1922C>T (p.Pro641Leu)
c.1919C>T (p.Pro640Leu)
c.2057C>T (p.Pro686Leu)
n.1655C>T
c.2063C>T (p.Pro688Leu)
c.1991C>T (p.Pro664Leu)
n.2218C>T
c.1757C>T (p.Pro586Leu)
c.1994C>T (p.Pro665Leu)
15g.74180138G>CCA393128251STRA6c.1946C>G (p.Pro649Arg)
c.1922C>G (p.Pro641Arg)
c.1919C>G (p.Pro640Arg)
c.2057C>G (p.Pro686Arg)
n.1655C>G
c.2063C>G (p.Pro688Arg)
c.1991C>G (p.Pro664Arg)
n.2218C>G
c.1757C>G (p.Pro586Arg)
c.1994C>G (p.Pro665Arg)
15g.74180138G>TCA393128252STRA6c.1946C>A (p.Pro649Gln)
c.1922C>A (p.Pro641Gln)
c.1919C>A (p.Pro640Gln)
c.2057C>A (p.Pro686Gln)
n.1655C>A
c.2063C>A (p.Pro688Gln)
c.1991C>A (p.Pro664Gln)
n.2218C>A
c.1757C>A (p.Pro586Gln)
c.1994C>A (p.Pro665Gln)
15g.74180139G>ACA393128255STRA6c.1945C>T (p.Pro649Ser)
c.1921C>T (p.Pro641Ser)
c.1918C>T (p.Pro640Ser)
c.2056C>T (p.Pro686Ser)
n.1654C>T
c.2062C>T (p.Pro688Ser)
c.1990C>T (p.Pro664Ser)
n.2217C>T
c.1756C>T (p.Pro586Ser)
c.1993C>T (p.Pro665Ser)
COSMIC COSMIC
15g.74180139G>CCA393128254STRA6c.1945C>G (p.Pro649Ala)
c.1921C>G (p.Pro641Ala)
c.1918C>G (p.Pro640Ala)
c.2056C>G (p.Pro686Ala)
n.1654C>G
c.2062C>G (p.Pro688Ala)
c.1990C>G (p.Pro664Ala)
n.2217C>G
c.1756C>G (p.Pro586Ala)
c.1993C>G (p.Pro665Ala)
15g.74180139G>TCA393128253STRA6c.1945C>A (p.Pro649Thr)
c.1921C>A (p.Pro641Thr)
c.1918C>A (p.Pro640Thr)
c.2056C>A (p.Pro686Thr)
n.1654C>A
c.2062C>A (p.Pro688Thr)
c.1990C>A (p.Pro664Thr)
n.2217C>A
c.1756C>A (p.Pro586Thr)
c.1993C>A (p.Pro665Thr)
15g.74180140G>ACA491170306STRA6c.1944C>T (p.Asn648=)
c.1920C>T (p.Asn640=)
c.1917C>T (p.Asn639=)
c.2055C>T (p.Asn685=)
n.1653C>T
c.2061C>T (p.Asn687=)
c.1989C>T (p.Asn663=)
n.2216C>T
c.1755C>T (p.Asn585=)
c.1992C>T (p.Asn664=)
dbSNP gnomAD v3 gnomAD v4
15g.74180140G>CCA393128256STRA6c.1944C>G (p.Asn648Lys)
c.1920C>G (p.Asn640Lys)
c.1917C>G (p.Asn639Lys)
c.2055C>G (p.Asn685Lys)
n.1653C>G
c.2061C>G (p.Asn687Lys)
c.1989C>G (p.Asn663Lys)
n.2216C>G
c.1755C>G (p.Asn585Lys)
c.1992C>G (p.Asn664Lys)
COSMIC COSMIC
15g.74180140G=CA2187549712STRA6c.1944C= (p.Asn648=)
c.1920C= (p.Asn640=)
c.1917C= (p.Asn639=)
c.2055C= (p.Asn685=)
n.1653C=
c.2061C= (p.Asn687=)
c.1989C= (p.Asn663=)
n.2216C=
c.1755C= (p.Asn585=)
c.1992C= (p.Asn664=)
15g.74180140G>TCA393128257STRA6c.1944C>A (p.Asn648Lys)
c.1920C>A (p.Asn640Lys)
c.1917C>A (p.Asn639Lys)
c.2055C>A (p.Asn685Lys)
n.1653C>A
c.2061C>A (p.Asn687Lys)
c.1989C>A (p.Asn663Lys)
n.2216C>A
c.1755C>A (p.Asn585Lys)
c.1992C>A (p.Asn664Lys)
15g.74180140_74180141delinsGTCA2187549713STRA6c.1943_1944delinsAC (p.Asn648=)
c.1919_1920delinsAC (p.Asn640=)
c.1916_1917delinsAC (p.Asn639=)
c.2054_2055delinsAC (p.Asn685=)
n.1652_1653delinsAC
c.2060_2061delinsAC (p.Asn687=)
c.1988_1989delinsAC (p.Asn663=)
n.2215_2216delinsAC
c.1754_1755delinsAC (p.Asn585=)
c.1991_1992delinsAC (p.Asn664=)
15g.74180141T>ACA393128258STRA6c.1943A>T (p.Asn648Ile)
c.1919A>T (p.Asn640Ile)
c.1916A>T (p.Asn639Ile)
c.2054A>T (p.Asn685Ile)
n.1652A>T
c.2060A>T (p.Asn687Ile)
c.1988A>T (p.Asn663Ile)
n.2215A>T
c.1754A>T (p.Asn585Ile)
c.1991A>T (p.Asn664Ile)
15g.74180141T>CCA393128259STRA6c.1943A>G (p.Asn648Ser)
c.1919A>G (p.Asn640Ser)
c.1916A>G (p.Asn639Ser)
c.2054A>G (p.Asn685Ser)
n.1652A>G
c.2060A>G (p.Asn687Ser)
c.1988A>G (p.Asn663Ser)
n.2215A>G
c.1754A>G (p.Asn585Ser)
c.1991A>G (p.Asn664Ser)
15g.74180141T>GCA393128260STRA6c.1943A>C (p.Asn648Thr)
c.1919A>C (p.Asn640Thr)
c.1916A>C (p.Asn639Thr)
c.2054A>C (p.Asn685Thr)
n.1652A>C
c.2060A>C (p.Asn687Thr)
c.1988A>C (p.Asn663Thr)
n.2215A>C
c.1754A>C (p.Asn585Thr)
c.1991A>C (p.Asn664Thr)
15g.74180142delCA2187549714STRA6c.1943del (p.Asn648ThrfsTer?)
c.1919del (p.Asn640ThrfsTer?)
c.1916del (p.Asn639ThrfsTer?)
c.2054del (p.Asn685ThrfsTer?)
n.1652del
c.2060del (p.Asn687ThrfsTer?)
c.1988del (p.Asn663ThrfsTer?)
n.2215del
c.1754del (p.Asn585ThrfsTer?)
c.1991del (p.Asn664ThrfsTer?)
dbSNP
15g.74180142T>ACA393128261STRA6c.1942A>T (p.Asn648Tyr)
c.1918A>T (p.Asn640Tyr)
c.1915A>T (p.Asn639Tyr)
c.2053A>T (p.Asn685Tyr)
n.1651A>T
c.2059A>T (p.Asn687Tyr)
c.797A>T
c.1987A>T (p.Asn663Tyr)
n.2214A>T
c.1753A>T (p.Asn585Tyr)
c.1990A>T (p.Asn664Tyr)
15g.74180142T>CCA393128262STRA6c.1942A>G (p.Asn648Asp)
c.1918A>G (p.Asn640Asp)
c.1915A>G (p.Asn639Asp)
c.2053A>G (p.Asn685Asp)
n.1651A>G
c.2059A>G (p.Asn687Asp)
c.797A>G
c.1987A>G (p.Asn663Asp)
n.2214A>G
c.1753A>G (p.Asn585Asp)
c.1990A>G (p.Asn664Asp)
15g.74180142T>GCA393128263STRA6c.1942A>C (p.Asn648His)
c.1918A>C (p.Asn640His)
c.1915A>C (p.Asn639His)
c.2053A>C (p.Asn685His)
n.1651A>C
c.2059A>C (p.Asn687His)
c.797A>C
c.1987A>C (p.Asn663His)
n.2214A>C
c.1753A>C (p.Asn585His)
c.1990A>C (p.Asn664His)
ClinVar dbSNP
15g.74180142T=CA2187549715STRA6c.1942A= (p.Asn648=)
c.1918A= (p.Asn640=)
c.1915A= (p.Asn639=)
c.2053A= (p.Asn685=)
n.1651A=
c.2059A= (p.Asn687=)
c.797A=
c.1987A= (p.Asn663=)
n.2214A=
c.1753A= (p.Asn585=)
c.1990A= (p.Asn664=)
15g.74180143G>ACA491170307STRA6c.1941C>T (p.His647=)
c.1917C>T (p.His639=)
c.1914C>T (p.His638=)
c.2052C>T (p.His684=)
n.1650C>T
c.2058C>T (p.His686=)
c.796C>T
c.1986C>T (p.His662=)
n.2213C>T
c.1752C>T (p.His584=)
c.1989C>T (p.His663=)
15g.74180143G>CCA7654383STRA6c.1941C>G (p.His647Gln)
c.1917C>G (p.His639Gln)
c.1914C>G (p.His638Gln)
c.2052C>G (p.His684Gln)
n.1650C>G
c.2058C>G (p.His686Gln)
c.796C>G
c.1986C>G (p.His662Gln)
n.2213C>G
c.1752C>G (p.His584Gln)
c.1989C>G (p.His663Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180143G=CA2187549716STRA6c.1941C= (p.His647=)
c.1917C= (p.His639=)
c.1914C= (p.His638=)
c.2052C= (p.His684=)
n.1650C=
c.2058C= (p.His686=)
c.796C=
c.1986C= (p.His662=)
n.2213C=
c.1752C= (p.His584=)
c.1989C= (p.His663=)
15g.74180143G>TCA393128264STRA6c.1941C>A (p.His647Gln)
c.1917C>A (p.His639Gln)
c.1914C>A (p.His638Gln)
c.2052C>A (p.His684Gln)
n.1650C>A
c.2058C>A (p.His686Gln)
c.796C>A
c.1986C>A (p.His662Gln)
n.2213C>A
c.1752C>A (p.His584Gln)
c.1989C>A (p.His663Gln)
gnomAD v4
15g.74180144T>ACA393128265STRA6c.1940A>T (p.His647Leu)
c.1916A>T (p.His639Leu)
c.1913A>T (p.His638Leu)
c.2051A>T (p.His684Leu)
n.1649A>T
c.2057A>T (p.His686Leu)
c.795A>T
c.1985A>T (p.His662Leu)
n.2212A>T
c.1751A>T (p.His584Leu)
c.1988A>T (p.His663Leu)
15g.74180144T>CCA393128266STRA6c.1940A>G (p.His647Arg)
c.1916A>G (p.His639Arg)
c.1913A>G (p.His638Arg)
c.2051A>G (p.His684Arg)
n.1649A>G
c.2057A>G (p.His686Arg)
c.795A>G
c.1985A>G (p.His662Arg)
n.2212A>G
c.1751A>G (p.His584Arg)
c.1988A>G (p.His663Arg)
dbSNP gnomAD v4
15g.74180144T>GCA393128267STRA6c.1940A>C (p.His647Pro)
c.1916A>C (p.His639Pro)
c.1913A>C (p.His638Pro)
c.2051A>C (p.His684Pro)
n.1649A>C
c.2057A>C (p.His686Pro)
c.795A>C
c.1985A>C (p.His662Pro)
n.2212A>C
c.1751A>C (p.His584Pro)
c.1988A>C (p.His663Pro)
15g.74180144T=CA2187549717STRA6c.1940A= (p.His647=)
c.1916A= (p.His639=)
c.1913A= (p.His638=)
c.2051A= (p.His684=)
n.1649A=
c.2057A= (p.His686=)
c.795A=
c.1985A= (p.His662=)
n.2212A=
c.1751A= (p.His584=)
c.1988A= (p.His663=)
15g.74180145G>ACA393128270STRA6c.1939C>T (p.His647Tyr)
c.1915C>T (p.His639Tyr)
c.1912C>T (p.His638Tyr)
c.2050C>T (p.His684Tyr)
n.1648C>T
c.2056C>T (p.His686Tyr)
c.794C>T
c.1984C>T (p.His662Tyr)
n.2211C>T
c.1750C>T (p.His584Tyr)
c.1987C>T (p.His663Tyr)
gnomAD v4 COSMIC
15g.74180145G>CCA393128269STRA6c.1939C>G (p.His647Asp)
c.1915C>G (p.His639Asp)
c.1912C>G (p.His638Asp)
c.2050C>G (p.His684Asp)
n.1648C>G
c.2056C>G (p.His686Asp)
c.794C>G
c.1984C>G (p.His662Asp)
n.2211C>G
c.1750C>G (p.His584Asp)
c.1987C>G (p.His663Asp)
gnomAD v4
15g.74180145G>TCA393128268STRA6c.1939C>A (p.His647Asn)
c.1915C>A (p.His639Asn)
c.1912C>A (p.His638Asn)
c.2050C>A (p.His684Asn)
n.1648C>A
c.2056C>A (p.His686Asn)
c.794C>A
c.1984C>A (p.His662Asn)
n.2211C>A
c.1750C>A (p.His584Asn)
c.1987C>A (p.His663Asn)
15g.74180150_74180152delCA2556700362STRA6c.1937_1939del (p.Leu646del)
c.1913_1915del (p.Leu638del)
c.1910_1912del (p.Leu637del)
c.2048_2050del (p.Leu683del)
n.1646_1648del
c.2054_2056del (p.Leu685del)
c.792_794del
c.1982_1984del (p.Leu661del)
n.2209_2211del
c.1748_1750del (p.Leu583del)
c.1985_1987del (p.Leu662del)
15g.74180146C>ACA491170308STRA6c.1938G>T (p.Leu646=)
c.1914G>T (p.Leu638=)
c.1911G>T (p.Leu637=)
c.2049G>T (p.Leu683=)
n.1647G>T
c.2055G>T (p.Leu685=)
c.793G>T
c.1983G>T (p.Leu661=)
n.2210G>T
c.1749G>T (p.Leu583=)
c.1986G>T (p.Leu662=)
15g.74180146C>GCA491170309STRA6c.1938G>C (p.Leu646=)
c.1914G>C (p.Leu638=)
c.1911G>C (p.Leu637=)
c.2049G>C (p.Leu683=)
n.1647G>C
c.2055G>C (p.Leu685=)
c.793G>C
c.1983G>C (p.Leu661=)
n.2210G>C
c.1749G>C (p.Leu583=)
c.1986G>C (p.Leu662=)
15g.74180146C>TCA491170310STRA6c.1938G>A (p.Leu646=)
c.1914G>A (p.Leu638=)
c.1911G>A (p.Leu637=)
c.2049G>A (p.Leu683=)
n.1647G>A
c.2055G>A (p.Leu685=)
c.793G>A
c.1983G>A (p.Leu661=)
n.2210G>A
c.1749G>A (p.Leu583=)
c.1986G>A (p.Leu662=)
15g.74180147A>CCA393128272STRA6c.1937T>G (p.Leu646Arg)
c.1913T>G (p.Leu638Arg)
c.1910T>G (p.Leu637Arg)
c.2048T>G (p.Leu683Arg)
n.1646T>G
c.2054T>G (p.Leu685Arg)
c.792T>G
c.1982T>G (p.Leu661Arg)
n.2209T>G
c.1748T>G (p.Leu583Arg)
c.1985T>G (p.Leu662Arg)
15g.74180147A>GCA393128271STRA6c.1937T>C (p.Leu646Pro)
c.1913T>C (p.Leu638Pro)
c.1910T>C (p.Leu637Pro)
c.2048T>C (p.Leu683Pro)
n.1646T>C
c.2054T>C (p.Leu685Pro)
c.792T>C
c.1982T>C (p.Leu661Pro)
n.2209T>C
c.1748T>C (p.Leu583Pro)
c.1985T>C (p.Leu662Pro)
gnomAD v4
15g.74180147A>TCA393128273STRA6c.1937T>A (p.Leu646Gln)
c.1913T>A (p.Leu638Gln)
c.1910T>A (p.Leu637Gln)
c.2048T>A (p.Leu683Gln)
n.1646T>A
c.2054T>A (p.Leu685Gln)
c.792T>A
c.1982T>A (p.Leu661Gln)
n.2209T>A
c.1748T>A (p.Leu583Gln)
c.1985T>A (p.Leu662Gln)
15g.74180148G>ACA491170311STRA6c.1936C>T (p.Leu646=)
c.1912C>T (p.Leu638=)
c.1909C>T (p.Leu637=)
c.2047C>T (p.Leu683=)
n.1645C>T
c.2053C>T (p.Leu685=)
c.791C>T
c.1981C>T (p.Leu661=)
n.2208C>T
c.1747C>T (p.Leu583=)
c.1984C>T (p.Leu662=)
dbSNP gnomAD v2 gnomAD v4
15g.74180148G>CCA393128274STRA6c.1936C>G (p.Leu646Val)
c.1912C>G (p.Leu638Val)
c.1909C>G (p.Leu637Val)
c.2047C>G (p.Leu683Val)
n.1645C>G
c.2053C>G (p.Leu685Val)
c.791C>G
c.1981C>G (p.Leu661Val)
n.2208C>G
c.1747C>G (p.Leu583Val)
c.1984C>G (p.Leu662Val)
15g.74180148G=CA2187549718STRA6c.1936C= (p.Leu646=)
c.1912C= (p.Leu638=)
c.1909C= (p.Leu637=)
c.2047C= (p.Leu683=)
n.1645C=
c.2053C= (p.Leu685=)
c.791C=
c.1981C= (p.Leu661=)
n.2208C=
c.1747C= (p.Leu583=)
c.1984C= (p.Leu662=)
15g.74180148G>TCA393128275STRA6c.1936C>A (p.Leu646Met)
c.1912C>A (p.Leu638Met)
c.1909C>A (p.Leu637Met)
c.2047C>A (p.Leu683Met)
n.1645C>A
c.2053C>A (p.Leu685Met)
c.791C>A
c.1981C>A (p.Leu661Met)
n.2208C>A
c.1747C>A (p.Leu583Met)
c.1984C>A (p.Leu662Met)
COSMIC COSMIC
15g.74180149C>ACA491170312STRA6c.1935G>T (p.Leu645=)
c.1911G>T (p.Leu637=)
c.1908G>T (p.Leu636=)
c.2046G>T (p.Leu682=)
n.1644G>T
c.2052G>T (p.Leu684=)
c.790G>T
c.1980G>T (p.Leu660=)
n.2207G>T
c.1746G>T (p.Leu582=)
c.1983G>T (p.Leu661=)
15g.74180149C=CA2187549719STRA6c.1935G= (p.Leu645=)
c.1911G= (p.Leu637=)
c.1908G= (p.Leu636=)
c.2046G= (p.Leu682=)
n.1644G=
c.2052G= (p.Leu684=)
c.790G=
c.1980G= (p.Leu660=)
n.2207G=
c.1746G= (p.Leu582=)
c.1983G= (p.Leu661=)
15g.74180149C>GCA491170313STRA6c.1935G>C (p.Leu645=)
c.1911G>C (p.Leu637=)
c.1908G>C (p.Leu636=)
c.2046G>C (p.Leu682=)
n.1644G>C
c.2052G>C (p.Leu684=)
c.790G>C
c.1980G>C (p.Leu660=)
n.2207G>C
c.1746G>C (p.Leu582=)
c.1983G>C (p.Leu661=)
15g.74180149C>TCA491170314STRA6c.1935G>A (p.Leu645=)
c.1911G>A (p.Leu637=)
c.1908G>A (p.Leu636=)
c.2046G>A (p.Leu682=)
n.1644G>A
c.2052G>A (p.Leu684=)
c.790G>A
c.1980G>A (p.Leu660=)
n.2207G>A
c.1746G>A (p.Leu582=)
c.1983G>A (p.Leu661=)
ClinVar dbSNP
15g.74180150A>CCA393128276STRA6c.1934T>G (p.Leu645Arg)
c.1910T>G (p.Leu637Arg)
c.1907T>G (p.Leu636Arg)
c.2045T>G (p.Leu682Arg)
n.1643T>G
c.2051T>G (p.Leu684Arg)
c.789T>G
c.1979T>G (p.Leu660Arg)
n.2206T>G
c.1745T>G (p.Leu582Arg)
c.1982T>G (p.Leu661Arg)
15g.74180150A>GCA393128277STRA6c.1934T>C (p.Leu645Pro)
c.1910T>C (p.Leu637Pro)
c.1907T>C (p.Leu636Pro)
c.2045T>C (p.Leu682Pro)
n.1643T>C
c.2051T>C (p.Leu684Pro)
c.789T>C
c.1979T>C (p.Leu660Pro)
n.2206T>C
c.1745T>C (p.Leu582Pro)
c.1982T>C (p.Leu661Pro)
15g.74180150A>TCA393128278STRA6c.1934T>A (p.Leu645Gln)
c.1910T>A (p.Leu637Gln)
c.1907T>A (p.Leu636Gln)
c.2045T>A (p.Leu682Gln)
n.1643T>A
c.2051T>A (p.Leu684Gln)
c.789T>A
c.1979T>A (p.Leu660Gln)
n.2206T>A
c.1745T>A (p.Leu582Gln)
c.1982T>A (p.Leu661Gln)
15g.74180151G>ACA491170315STRA6c.1933C>T (p.Leu645=)
c.1909C>T (p.Leu637=)
c.1906C>T (p.Leu636=)
c.2044C>T (p.Leu682=)
n.1642C>T
c.2050C>T (p.Leu684=)
c.788C>T
c.1978C>T (p.Leu660=)
n.2205C>T
c.1744C>T (p.Leu582=)
c.1981C>T (p.Leu661=)
15g.74180151G>CCA393128279STRA6c.1933C>G (p.Leu645Val)
c.1909C>G (p.Leu637Val)
c.1906C>G (p.Leu636Val)
c.2044C>G (p.Leu682Val)
n.1642C>G
c.2050C>G (p.Leu684Val)
c.788C>G
c.1978C>G (p.Leu660Val)
n.2205C>G
c.1744C>G (p.Leu582Val)
c.1981C>G (p.Leu661Val)
15g.74180151G>TCA393128280STRA6c.1933C>A (p.Leu645Met)
c.1909C>A (p.Leu637Met)
c.1906C>A (p.Leu636Met)
c.2044C>A (p.Leu682Met)
n.1642C>A
c.2050C>A (p.Leu684Met)
c.788C>A
c.1978C>A (p.Leu660Met)
n.2205C>A
c.1744C>A (p.Leu582Met)
c.1981C>A (p.Leu661Met)
15g.74180152C>ACA491170316STRA6c.1932G>T (p.Thr644=)
c.1908G>T (p.Thr636=)
c.1905G>T (p.Thr635=)
c.2043G>T (p.Thr681=)
n.1641G>T
c.2049G>T (p.Thr683=)
c.787G>T
c.1977G>T (p.Thr659=)
n.2204G>T
c.1743G>T (p.Thr581=)
c.1980G>T (p.Thr660=)
15g.74180152C=CA2187549720STRA6c.1932G= (p.Thr644=)
c.1908G= (p.Thr636=)
c.1905G= (p.Thr635=)
c.2043G= (p.Thr681=)
n.1641G=
c.2049G= (p.Thr683=)
c.787G=
c.1977G= (p.Thr659=)
n.2204G=
c.1743G= (p.Thr581=)
c.1980G= (p.Thr660=)
15g.74180152C>GCA491170317STRA6c.1932G>C (p.Thr644=)
c.1908G>C (p.Thr636=)
c.1905G>C (p.Thr635=)
c.2043G>C (p.Thr681=)
n.1641G>C
c.2049G>C (p.Thr683=)
c.787G>C
c.1977G>C (p.Thr659=)
n.2204G>C
c.1743G>C (p.Thr581=)
c.1980G>C (p.Thr660=)
15g.74180152C>TCA272746114STRA6c.1932G>A (p.Thr644=)
c.1908G>A (p.Thr636=)
c.1905G>A (p.Thr635=)
c.2043G>A (p.Thr681=)
n.1641G>A
c.2049G>A (p.Thr683=)
c.787G>A
c.1977G>A (p.Thr659=)
n.2204G>A
c.1743G>A (p.Thr581=)
c.1980G>A (p.Thr660=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.74180153G>ACA114788STRA6c.1931C>T (p.Thr644Met)
c.1907C>T (p.Thr636Met)
c.1904C>T (p.Thr635Met)
c.2042C>T (p.Thr681Met)
n.1640C>T
c.2048C>T (p.Thr683Met)
c.786C>T
c.1976C>T (p.Thr659Met)
n.2203C>T
c.1742C>T (p.Thr581Met)
c.1979C>T (p.Thr660Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74180153G>CCA393128281STRA6c.1931C>G (p.Thr644Arg)
c.1907C>G (p.Thr636Arg)
c.1904C>G (p.Thr635Arg)
c.2042C>G (p.Thr681Arg)
n.1640C>G
c.2048C>G (p.Thr683Arg)
c.786C>G
c.1976C>G (p.Thr659Arg)
n.2203C>G
c.1742C>G (p.Thr581Arg)
c.1979C>G (p.Thr660Arg)
15g.74180153G=CA2187549721STRA6c.1931C= (p.Thr644=)
c.1907C= (p.Thr636=)
c.1904C= (p.Thr635=)
c.2042C= (p.Thr681=)
n.1640C=
c.2048C= (p.Thr683=)
c.786C=
c.1976C= (p.Thr659=)
n.2203C=
c.1742C= (p.Thr581=)
c.1979C= (p.Thr660=)
15g.74180153G>TCA393128282STRA6c.1931C>A (p.Thr644Lys)
c.1907C>A (p.Thr636Lys)
c.1904C>A (p.Thr635Lys)
c.2042C>A (p.Thr681Lys)
n.1640C>A
c.2048C>A (p.Thr683Lys)
c.786C>A
c.1976C>A (p.Thr659Lys)
n.2203C>A
c.1742C>A (p.Thr581Lys)
c.1979C>A (p.Thr660Lys)
15g.74180154T>ACA393128283STRA6c.1930A>T (p.Thr644Ser)
c.1906A>T (p.Thr636Ser)
c.1903A>T (p.Thr635Ser)
c.2041A>T (p.Thr681Ser)
n.1639A>T
c.2047A>T (p.Thr683Ser)
c.785A>T
c.1975A>T (p.Thr659Ser)
n.2202A>T
c.1741A>T (p.Thr581Ser)
c.1978A>T (p.Thr660Ser)
15g.74180154T>CCA393128284STRA6c.1930A>G (p.Thr644Ala)
c.1906A>G (p.Thr636Ala)
c.1903A>G (p.Thr635Ala)
c.2041A>G (p.Thr681Ala)
n.1639A>G
c.2047A>G (p.Thr683Ala)
c.785A>G
c.1975A>G (p.Thr659Ala)
n.2202A>G
c.1741A>G (p.Thr581Ala)
c.1978A>G (p.Thr660Ala)
gnomAD v4
15g.74180154T>GCA393128285STRA6c.1930A>C (p.Thr644Pro)
c.1906A>C (p.Thr636Pro)
c.1903A>C (p.Thr635Pro)
c.2041A>C (p.Thr681Pro)
n.1639A>C
c.2047A>C (p.Thr683Pro)
c.785A>C
c.1975A>C (p.Thr659Pro)
n.2202A>C
c.1741A>C (p.Thr581Pro)
c.1978A>C (p.Thr660Pro)
15g.74180155G>ACA491170318STRA6c.1929C>T (p.Tyr643=)
c.1905C>T (p.Tyr635=)
c.1902C>T (p.Tyr634=)
c.2040C>T (p.Tyr680=)
n.1638C>T
c.2046C>T (p.Tyr682=)
c.784C>T
c.1974C>T (p.Tyr658=)
n.2201C>T
c.1740C>T (p.Tyr580=)
c.1977C>T (p.Tyr659=)
15g.74180155G>CCA393128287STRA6c.1929C>G (p.Tyr643Ter)
c.1905C>G (p.Tyr635Ter)
c.1902C>G (p.Tyr634Ter)
c.2040C>G (p.Tyr680Ter)
n.1638C>G
c.2046C>G (p.Tyr682Ter)
c.784C>G
c.1974C>G (p.Tyr658Ter)
n.2201C>G
c.1740C>G (p.Tyr580Ter)
c.1977C>G (p.Tyr659Ter)
15g.74180155G>TCA393128286STRA6c.1929C>A (p.Tyr643Ter)
c.1905C>A (p.Tyr635Ter)
c.1902C>A (p.Tyr634Ter)
c.2040C>A (p.Tyr680Ter)
n.1638C>A
c.2046C>A (p.Tyr682Ter)
c.784C>A
c.1974C>A (p.Tyr658Ter)
n.2201C>A
c.1740C>A (p.Tyr580Ter)
c.1977C>A (p.Tyr659Ter)
COSMIC COSMIC
15g.74180156T>ACA393128288STRA6c.1928A>T (p.Tyr643Phe)
c.1904A>T (p.Tyr635Phe)
c.1901A>T (p.Tyr634Phe)
c.2039A>T (p.Tyr680Phe)
n.1637A>T
c.2045A>T (p.Tyr682Phe)
c.783A>T
c.1973A>T (p.Tyr658Phe)
n.2200A>T
c.1739A>T (p.Tyr580Phe)
c.1976A>T (p.Tyr659Phe)
15g.74180156T>CCA393128289STRA6c.1928A>G (p.Tyr643Cys)
c.1904A>G (p.Tyr635Cys)
c.1901A>G (p.Tyr634Cys)
c.2039A>G (p.Tyr680Cys)
n.1637A>G
c.2045A>G (p.Tyr682Cys)
c.783A>G
c.1973A>G (p.Tyr658Cys)
n.2200A>G
c.1739A>G (p.Tyr580Cys)
c.1976A>G (p.Tyr659Cys)
15g.74180156T>GCA393128290STRA6c.1928A>C (p.Tyr643Ser)
c.1904A>C (p.Tyr635Ser)
c.1901A>C (p.Tyr634Ser)
c.2039A>C (p.Tyr680Ser)
n.1637A>C
c.2045A>C (p.Tyr682Ser)
c.783A>C
c.1973A>C (p.Tyr658Ser)
n.2200A>C
c.1739A>C (p.Tyr580Ser)
c.1976A>C (p.Tyr659Ser)
15g.74180157A>CCA393128291STRA6c.1927T>G (p.Tyr643Asp)
c.1903T>G (p.Tyr635Asp)
c.1900T>G (p.Tyr634Asp)
c.2038T>G (p.Tyr680Asp)
n.1636T>G
c.2044T>G (p.Tyr682Asp)
c.782T>G
c.1972T>G (p.Tyr658Asp)
n.2199T>G
c.1738T>G (p.Tyr580Asp)
c.1975T>G (p.Tyr659Asp)
15g.74180157A>GCA393128292STRA6c.1927T>C (p.Tyr643His)
c.1903T>C (p.Tyr635His)
c.1900T>C (p.Tyr634His)
c.2038T>C (p.Tyr680His)
n.1636T>C
c.2044T>C (p.Tyr682His)
c.782T>C
c.1972T>C (p.Tyr658His)
n.2199T>C
c.1738T>C (p.Tyr580His)
c.1975T>C (p.Tyr659His)
15g.74180157A>TCA393128293STRA6c.1927T>A (p.Tyr643Asn)
c.1903T>A (p.Tyr635Asn)
c.1900T>A (p.Tyr634Asn)
c.2038T>A (p.Tyr680Asn)
n.1636T>A
c.2044T>A (p.Tyr682Asn)
c.782T>A
c.1972T>A (p.Tyr658Asn)
n.2199T>A
c.1738T>A (p.Tyr580Asn)
c.1975T>A (p.Tyr659Asn)
15g.74180158G>ACA491170319STRA6c.1926C>T (p.Ala642=)
c.1902C>T (p.Ala634=)
c.1899C>T (p.Ala633=)
c.2037C>T (p.Ala679=)
n.1635C>T
c.2043C>T (p.Ala681=)
c.781C>T
c.1971C>T (p.Ala657=)
n.2198C>T
c.1737C>T (p.Ala579=)
c.1974C>T (p.Ala658=)
15g.74180158G>CCA7654384STRA6c.1926C>G (p.Ala642=)
c.1902C>G (p.Ala634=)
c.1899C>G (p.Ala633=)
c.2037C>G (p.Ala679=)
n.1635C>G
c.2043C>G (p.Ala681=)
c.781C>G
c.1971C>G (p.Ala657=)
n.2198C>G
c.1737C>G (p.Ala579=)
c.1974C>G (p.Ala658=)
dbSNP ExAC gnomAD v2
15g.74180158G=CA2187549722STRA6c.1926C= (p.Ala642=)
c.1902C= (p.Ala634=)
c.1899C= (p.Ala633=)
c.2037C= (p.Ala679=)
n.1635C=
c.2043C= (p.Ala681=)
c.781C=
c.1971C= (p.Ala657=)
n.2198C=
c.1737C= (p.Ala579=)
c.1974C= (p.Ala658=)
15g.74180158G>TCA491170320STRA6c.1926C>A (p.Ala642=)
c.1902C>A (p.Ala634=)
c.1899C>A (p.Ala633=)
c.2037C>A (p.Ala679=)
n.1635C>A
c.2043C>A (p.Ala681=)
c.781C>A
c.1971C>A (p.Ala657=)
n.2198C>A
c.1737C>A (p.Ala579=)
c.1974C>A (p.Ala658=)
gnomAD v4
15g.74180159G>ACA393128294STRA6c.1925C>T (p.Ala642Val)
c.1901C>T (p.Ala634Val)
c.1898C>T (p.Ala633Val)
c.2036C>T (p.Ala679Val)
n.1634C>T
c.2042C>T (p.Ala681Val)
c.780C>T
c.1970C>T (p.Ala657Val)
n.2197C>T
c.1736C>T (p.Ala579Val)
c.1973C>T (p.Ala658Val)
gnomAD v4
15g.74180159G>CCA393128295STRA6c.1925C>G (p.Ala642Gly)
c.1901C>G (p.Ala634Gly)
c.1898C>G (p.Ala633Gly)
c.2036C>G (p.Ala679Gly)
n.1634C>G
c.2042C>G (p.Ala681Gly)
c.780C>G
c.1970C>G (p.Ala657Gly)
n.2197C>G
c.1736C>G (p.Ala579Gly)
c.1973C>G (p.Ala658Gly)
15g.74180159G>TCA393128296STRA6c.1925C>A (p.Ala642Asp)
c.1901C>A (p.Ala634Asp)
c.1898C>A (p.Ala633Asp)
c.2036C>A (p.Ala679Asp)
n.1634C>A
c.2042C>A (p.Ala681Asp)
c.780C>A
c.1970C>A (p.Ala657Asp)
n.2197C>A
c.1736C>A (p.Ala579Asp)
c.1973C>A (p.Ala658Asp)
15g.74180160C>ACA393128297STRA6c.1924G>T (p.Ala642Ser)
c.1900G>T (p.Ala634Ser)
c.1897G>T (p.Ala633Ser)
c.2035G>T (p.Ala679Ser)
n.1633G>T
c.2041G>T (p.Ala681Ser)
c.779G>T
c.1969G>T (p.Ala657Ser)
n.2196G>T
c.1735G>T (p.Ala579Ser)
c.1972G>T (p.Ala658Ser)
15g.74180160C=CA2187549723STRA6c.1924G= (p.Ala642=)
c.1900G= (p.Ala634=)
c.1897G= (p.Ala633=)
c.2035G= (p.Ala679=)
n.1633G=
c.2041G= (p.Ala681=)
c.779G=
c.1969G= (p.Ala657=)
n.2196G=
c.1735G= (p.Ala579=)
c.1972G= (p.Ala658=)
15g.74180160C>GCA393128298STRA6c.1924G>C (p.Ala642Pro)
c.1900G>C (p.Ala634Pro)
c.1897G>C (p.Ala633Pro)
c.2035G>C (p.Ala679Pro)
n.1633G>C
c.2041G>C (p.Ala681Pro)
c.779G>C
c.1969G>C (p.Ala657Pro)
n.2196G>C
c.1735G>C (p.Ala579Pro)
c.1972G>C (p.Ala658Pro)
15g.74180160C>TCA393128299STRA6c.1924G>A (p.Ala642Thr)
c.1900G>A (p.Ala634Thr)
c.1897G>A (p.Ala633Thr)
c.2035G>A (p.Ala679Thr)
n.1633G>A
c.2041G>A (p.Ala681Thr)
c.779G>A
c.1969G>A (p.Ala657Thr)
n.2196G>A
c.1735G>A (p.Ala579Thr)
c.1972G>A (p.Ala658Thr)
dbSNP
15g.74180161C>ACA491170321STRA6c.1923G>T (p.Leu641=)
c.1899G>T (p.Leu633=)
c.1896G>T (p.Leu632=)
c.2034G>T (p.Leu678=)
n.1632G>T
c.2040G>T (p.Leu680=)
c.778G>T
c.1968G>T (p.Leu656=)
n.2195G>T
c.1734G>T (p.Leu578=)
c.1971G>T (p.Leu657=)
15g.74180161C=CA2187549724STRA6c.1923G= (p.Leu641=)
c.1899G= (p.Leu633=)
c.1896G= (p.Leu632=)
c.2034G= (p.Leu678=)
n.1632G=
c.2040G= (p.Leu680=)
c.778G=
c.1968G= (p.Leu656=)
n.2195G=
c.1734G= (p.Leu578=)
c.1971G= (p.Leu657=)
15g.74180161C>GCA491170322STRA6c.1923G>C (p.Leu641=)
c.1899G>C (p.Leu633=)
c.1896G>C (p.Leu632=)
c.2034G>C (p.Leu678=)
n.1632G>C
c.2040G>C (p.Leu680=)
c.778G>C
c.1968G>C (p.Leu656=)
n.2195G>C
c.1734G>C (p.Leu578=)
c.1971G>C (p.Leu657=)
dbSNP gnomAD v3 gnomAD v4
15g.74180161C>TCA491170323STRA6c.1923G>A (p.Leu641=)
c.1899G>A (p.Leu633=)
c.1896G>A (p.Leu632=)
c.2034G>A (p.Leu678=)
n.1632G>A
c.2040G>A (p.Leu680=)
c.778G>A
c.1968G>A (p.Leu656=)
n.2195G>A
c.1734G>A (p.Leu578=)
c.1971G>A (p.Leu657=)
gnomAD v4
15g.74180162A>CCA393128302STRA6c.1922T>G (p.Leu641Arg)
c.1898T>G (p.Leu633Arg)
c.1895T>G (p.Leu632Arg)
c.2033T>G (p.Leu678Arg)
n.1631T>G
c.2039T>G (p.Leu680Arg)
c.777T>G
c.1967T>G (p.Leu656Arg)
n.2194T>G
c.1733T>G (p.Leu578Arg)
c.1970T>G (p.Leu657Arg)
15g.74180162A>GCA393128301STRA6c.1922T>C (p.Leu641Pro)
c.1898T>C (p.Leu633Pro)
c.1895T>C (p.Leu632Pro)
c.2033T>C (p.Leu678Pro)
n.1631T>C
c.2039T>C (p.Leu680Pro)
c.777T>C
c.1967T>C (p.Leu656Pro)
n.2194T>C
c.1733T>C (p.Leu578Pro)
c.1970T>C (p.Leu657Pro)
15g.74180162A>TCA393128300STRA6c.1922T>A (p.Leu641Gln)
c.1898T>A (p.Leu633Gln)
c.1895T>A (p.Leu632Gln)
c.2033T>A (p.Leu678Gln)
n.1631T>A
c.2039T>A (p.Leu680Gln)
c.777T>A
c.1967T>A (p.Leu656Gln)
n.2194T>A
c.1733T>A (p.Leu578Gln)
c.1970T>A (p.Leu657Gln)
ClinVar
15g.74180163G>ACA491170324STRA6c.1921C>T (p.Leu641=)
c.1897C>T (p.Leu633=)
c.1894C>T (p.Leu632=)
c.2032C>T (p.Leu678=)
n.1630C>T
c.2038C>T (p.Leu680=)
c.776C>T
c.1966C>T (p.Leu656=)
n.2193C>T
c.1732C>T (p.Leu578=)
c.1969C>T (p.Leu657=)
dbSNP gnomAD v3 gnomAD v4
15g.74180163G>CCA393128303STRA6c.1921C>G (p.Leu641Val)
c.1897C>G (p.Leu633Val)
c.1894C>G (p.Leu632Val)
c.2032C>G (p.Leu678Val)
n.1630C>G
c.2038C>G (p.Leu680Val)
c.776C>G
c.1966C>G (p.Leu656Val)
n.2193C>G
c.1732C>G (p.Leu578Val)
c.1969C>G (p.Leu657Val)
15g.74180163G=CA2187549725STRA6c.1921C= (p.Leu641=)
c.1897C= (p.Leu633=)
c.1894C= (p.Leu632=)
c.2032C= (p.Leu678=)
n.1630C=
c.2038C= (p.Leu680=)
c.776C=
c.1966C= (p.Leu656=)
n.2193C=
c.1732C= (p.Leu578=)
c.1969C= (p.Leu657=)
15g.74180163G>TCA393128304STRA6c.1921C>A (p.Leu641Met)
c.1897C>A (p.Leu633Met)
c.1894C>A (p.Leu632Met)
c.2032C>A (p.Leu678Met)
n.1630C>A
c.2038C>A (p.Leu680Met)
c.776C>A
c.1966C>A (p.Leu656Met)
n.2193C>A
c.1732C>A (p.Leu578Met)
c.1969C>A (p.Leu657Met)
15g.74180164A>CCA491170325STRA6c.1920T>G (p.Gly640=)
c.1896T>G (p.Gly632=)
c.1893T>G (p.Gly631=)
c.2031T>G (p.Gly677=)
n.1629T>G
c.2037T>G (p.Gly679=)
c.775T>G
c.1965T>G (p.Gly655=)
n.2192T>G
c.1731T>G (p.Gly577=)
c.1968T>G (p.Gly656=)
15g.74180164A>GCA491170326STRA6c.1920T>C (p.Gly640=)
c.1896T>C (p.Gly632=)
c.1893T>C (p.Gly631=)
c.2031T>C (p.Gly677=)
n.1629T>C
c.2037T>C (p.Gly679=)
c.775T>C
c.1965T>C (p.Gly655=)
n.2192T>C
c.1731T>C (p.Gly577=)
c.1968T>C (p.Gly656=)
15g.74180164A>TCA491170327STRA6c.1920T>A (p.Gly640=)
c.1896T>A (p.Gly632=)
c.1893T>A (p.Gly631=)
c.2031T>A (p.Gly677=)
n.1629T>A
c.2037T>A (p.Gly679=)
c.775T>A
c.1965T>A (p.Gly655=)
n.2192T>A
c.1731T>A (p.Gly577=)
c.1968T>A (p.Gly656=)
15g.74180165C>ACA393128305STRA6c.1919G>T (p.Gly640Val)
c.1895G>T (p.Gly632Val)
c.1892G>T (p.Gly631Val)
c.2030G>T (p.Gly677Val)
n.1628G>T
c.2036G>T (p.Gly679Val)
c.774G>T
c.1964G>T (p.Gly655Val)
n.2191G>T
c.1730G>T (p.Gly577Val)
c.1967G>T (p.Gly656Val)
15g.74180165C>GCA393128306STRA6c.1919G>C (p.Gly640Ala)
c.1895G>C (p.Gly632Ala)
c.1892G>C (p.Gly631Ala)
c.2030G>C (p.Gly677Ala)
n.1628G>C
c.2036G>C (p.Gly679Ala)
c.774G>C
c.1964G>C (p.Gly655Ala)
n.2191G>C
c.1730G>C (p.Gly577Ala)
c.1967G>C (p.Gly656Ala)
15g.74180165C>TCA393128307STRA6c.1919G>A (p.Gly640Asp)
c.1895G>A (p.Gly632Asp)
c.1892G>A (p.Gly631Asp)
c.2030G>A (p.Gly677Asp)
n.1628G>A
c.2036G>A (p.Gly679Asp)
c.774G>A
c.1964G>A (p.Gly655Asp)
n.2191G>A
c.1730G>A (p.Gly577Asp)
c.1967G>A (p.Gly656Asp)
15g.74180166C>ACA393128310STRA6c.1918G>T (p.Gly640Cys)
c.1894G>T (p.Gly632Cys)
c.1891G>T (p.Gly631Cys)
c.2029G>T (p.Gly677Cys)
n.1627G>T
c.2035G>T (p.Gly679Cys)
c.773G>T
c.1963G>T (p.Gly655Cys)
n.2190G>T
c.1729G>T (p.Gly577Cys)
c.1966G>T (p.Gly656Cys)
gnomAD v4 COSMIC COSMIC
15g.74180166C>GCA393128309STRA6c.1918G>C (p.Gly640Arg)
c.1894G>C (p.Gly632Arg)
c.1891G>C (p.Gly631Arg)
c.2029G>C (p.Gly677Arg)
n.1627G>C
c.2035G>C (p.Gly679Arg)
c.773G>C
c.1963G>C (p.Gly655Arg)
n.2190G>C
c.1729G>C (p.Gly577Arg)
c.1966G>C (p.Gly656Arg)
15g.74180166C>TCA393128308STRA6c.1918G>A (p.Gly640Ser)
c.1894G>A (p.Gly632Ser)
c.1891G>A (p.Gly631Ser)
c.2029G>A (p.Gly677Ser)
n.1627G>A
c.2035G>A (p.Gly679Ser)
c.773G>A
c.1963G>A (p.Gly655Ser)
n.2190G>A
c.1729G>A (p.Gly577Ser)
c.1966G>A (p.Gly656Ser)
15g.74180167C>ACA393128311STRA6c.1917G>T (p.Trp639Cys)
c.1893G>T (p.Trp631Cys)
c.1890G>T (p.Trp630Cys)
c.2028G>T (p.Trp676Cys)
n.1626G>T
c.2034G>T (p.Trp678Cys)
c.772G>T
c.1962G>T (p.Trp654Cys)
n.2189G>T
c.1728G>T (p.Trp576Cys)
c.1965G>T (p.Trp655Cys)
15g.74180167C=CA2187549726STRA6c.1917G= (p.Trp639=)
c.1893G= (p.Trp631=)
c.1890G= (p.Trp630=)
c.2028G= (p.Trp676=)
n.1626G=
c.2034G= (p.Trp678=)
c.772G=
c.1962G= (p.Trp654=)
n.2189G=
c.1728G= (p.Trp576=)
c.1965G= (p.Trp655=)
15g.74180167C>GCA393128312STRA6c.1917G>C (p.Trp639Cys)
c.1893G>C (p.Trp631Cys)
c.1890G>C (p.Trp630Cys)
c.2028G>C (p.Trp676Cys)
n.1626G>C
c.2034G>C (p.Trp678Cys)
c.772G>C
c.1962G>C (p.Trp654Cys)
n.2189G>C
c.1728G>C (p.Trp576Cys)
c.1965G>C (p.Trp655Cys)
15g.74180167C>TCA393128313STRA6c.1917G>A (p.Trp639Ter)
c.1893G>A (p.Trp631Ter)
c.1890G>A (p.Trp630Ter)
c.2028G>A (p.Trp676Ter)
n.1626G>A
c.2034G>A (p.Trp678Ter)
c.772G>A
c.1962G>A (p.Trp654Ter)
n.2189G>A
c.1728G>A (p.Trp576Ter)
c.1965G>A (p.Trp655Ter)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
15g.74180168C>ACA393128314STRA6c.1916G>T (p.Trp639Leu)
c.1892G>T (p.Trp631Leu)
c.1889G>T (p.Trp630Leu)
c.2027G>T (p.Trp676Leu)
n.1625G>T
c.2033G>T (p.Trp678Leu)
c.771G>T
c.1961G>T (p.Trp654Leu)
n.2188G>T
c.1727G>T (p.Trp576Leu)
c.1964G>T (p.Trp655Leu)
15g.74180168C>GCA393128315STRA6c.1916G>C (p.Trp639Ser)
c.1892G>C (p.Trp631Ser)
c.1889G>C (p.Trp630Ser)
c.2027G>C (p.Trp676Ser)
n.1625G>C
c.2033G>C (p.Trp678Ser)
c.771G>C
c.1961G>C (p.Trp654Ser)
n.2188G>C
c.1727G>C (p.Trp576Ser)
c.1964G>C (p.Trp655Ser)
15g.74180168C>TCA393128316STRA6c.1916G>A (p.Trp639Ter)
c.1892G>A (p.Trp631Ter)
c.1889G>A (p.Trp630Ter)
c.2027G>A (p.Trp676Ter)
n.1625G>A
c.2033G>A (p.Trp678Ter)
c.771G>A
c.1961G>A (p.Trp654Ter)
n.2188G>A
c.1727G>A (p.Trp576Ter)
c.1964G>A (p.Trp655Ter)
15g.74180169A>CCA393128317STRA6c.1915T>G (p.Trp639Gly)
c.1891T>G (p.Trp631Gly)
c.1888T>G (p.Trp630Gly)
c.2026T>G (p.Trp676Gly)
n.1624T>G
c.2032T>G (p.Trp678Gly)
c.770T>G
c.1960T>G (p.Trp654Gly)
n.2187T>G
c.1726T>G (p.Trp576Gly)
c.1963T>G (p.Trp655Gly)
15g.74180169A>GCA393128319STRA6c.1915T>C (p.Trp639Arg)
c.1891T>C (p.Trp631Arg)
c.1888T>C (p.Trp630Arg)
c.2026T>C (p.Trp676Arg)
n.1624T>C
c.2032T>C (p.Trp678Arg)
c.770T>C
c.1960T>C (p.Trp654Arg)
n.2187T>C
c.1726T>C (p.Trp576Arg)
c.1963T>C (p.Trp655Arg)
15g.74180169A>TCA393128318STRA6c.1915T>A (p.Trp639Arg)
c.1891T>A (p.Trp631Arg)
c.1888T>A (p.Trp630Arg)
c.2026T>A (p.Trp676Arg)
n.1624T>A
c.2032T>A (p.Trp678Arg)
c.770T>A
c.1960T>A (p.Trp654Arg)
n.2187T>A
c.1726T>A (p.Trp576Arg)
c.1963T>A (p.Trp655Arg)
15g.74180169_74180170insACTATTGCA491170328STRA6c.1914_1915insCAATAGT (p.Trp639GlnfsTer2)
c.1890_1891insCAATAGT (p.Trp631GlnfsTer2)
c.1887_1888insCAATAGT (p.Trp630GlnfsTer2)
c.2025_2026insCAATAGT (p.Trp676GlnfsTer2)
n.1623_1624insCAATAGT
c.2031_2032insCAATAGT (p.Trp678GlnfsTer2)
c.769_770insCAATAGT
c.1959_1960insCAATAGT (p.Trp654GlnfsTer2)
n.2186_2187insCAATAGT
c.1725_1726insCAATAGT (p.Trp576GlnfsTer2)
c.1962_1963insCAATAGT (p.Trp655GlnfsTer2)
15g.74180170G>ACA272746121STRA6c.1914C>T (p.Arg638=)
c.1890C>T (p.Arg630=)
c.1887C>T (p.Arg629=)
c.2025C>T (p.Arg675=)
n.1623C>T
c.2031C>T (p.Arg677=)
c.769C>T
c.1959C>T (p.Arg653=)
n.2186C>T
c.1725C>T (p.Arg575=)
c.1962C>T (p.Arg654=)
dbSNP gnomAD v4
15g.74180170G>CCA491170329STRA6c.1914C>G (p.Arg638=)
c.1890C>G (p.Arg630=)
c.1887C>G (p.Arg629=)
c.2025C>G (p.Arg675=)
n.1623C>G
c.2031C>G (p.Arg677=)
c.769C>G
c.1959C>G (p.Arg653=)
n.2186C>G
c.1725C>G (p.Arg575=)
c.1962C>G (p.Arg654=)
15g.74180170G=CA2187549727STRA6c.1914C= (p.Arg638=)
c.1890C= (p.Arg630=)
c.1887C= (p.Arg629=)
c.2025C= (p.Arg675=)
n.1623C=
c.2031C= (p.Arg677=)
c.769C=
c.1959C= (p.Arg653=)
n.2186C=
c.1725C= (p.Arg575=)
c.1962C= (p.Arg654=)
15g.74180170G>TCA491170330STRA6c.1914C>A (p.Arg638=)
c.1890C>A (p.Arg630=)
c.1887C>A (p.Arg629=)
c.2025C>A (p.Arg675=)
n.1623C>A
c.2031C>A (p.Arg677=)
c.769C>A
c.1959C>A (p.Arg653=)
n.2186C>A
c.1725C>A (p.Arg575=)
c.1962C>A (p.Arg654=)

Number of alleles fetched