Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74180783T>ACA272746534STRA6c.1839A>T (p.Glu613Asp)
c.1815A>T (p.Glu605Asp)
c.1812A>T (p.Glu604Asp)
c.1950A>T (p.Glu650Asp)
n.1548A>T
c.1956A>T (p.Glu652Asp)
c.694A>T
c.1884A>T (p.Glu628Asp)
n.2111A>T
c.1650A>T (p.Glu550Asp)
c.1887A>T (p.Glu629Asp)
 ClinVar dbSNP gnomAD v4
15g.74180783T>CCA491170416STRA6c.1839A>G (p.Glu613=)
c.1815A>G (p.Glu605=)
c.1812A>G (p.Glu604=)
c.1950A>G (p.Glu650=)
n.1548A>G
c.1956A>G (p.Glu652=)
c.694A>G
c.1884A>G (p.Glu628=)
n.2111A>G
c.1650A>G (p.Glu550=)
c.1887A>G (p.Glu629=)
 gnomAD v4
15g.74180783T>GCA393128717STRA6c.1839A>C (p.Glu613Asp)
c.1815A>C (p.Glu605Asp)
c.1812A>C (p.Glu604Asp)
c.1950A>C (p.Glu650Asp)
n.1548A>C
c.1956A>C (p.Glu652Asp)
c.694A>C
c.1884A>C (p.Glu628Asp)
n.2111A>C
c.1650A>C (p.Glu550Asp)
c.1887A>C (p.Glu629Asp)
15g.74180783T=CA2187550030STRA6c.1839A= (p.Glu613=)
c.1815A= (p.Glu605=)
c.1812A= (p.Glu604=)
c.1950A= (p.Glu650=)
n.1548A=
c.1956A= (p.Glu652=)
c.694A=
c.1884A= (p.Glu628=)
n.2111A=
c.1650A= (p.Glu550=)
c.1887A= (p.Glu629=)
15g.74180784T>ACA393128720STRA6c.1838A>T (p.Glu613Val)
c.1814A>T (p.Glu605Val)
c.1811A>T (p.Glu604Val)
c.1949A>T (p.Glu650Val)
n.1547A>T
c.1955A>T (p.Glu652Val)
c.693A>T
c.1883A>T (p.Glu628Val)
n.2110A>T
c.1649A>T (p.Glu550Val)
c.1886A>T (p.Glu629Val)
15g.74180784T>CCA393128721STRA6c.1838A>G (p.Glu613Gly)
c.1814A>G (p.Glu605Gly)
c.1811A>G (p.Glu604Gly)
c.1949A>G (p.Glu650Gly)
n.1547A>G
c.1955A>G (p.Glu652Gly)
c.693A>G
c.1883A>G (p.Glu628Gly)
n.2110A>G
c.1649A>G (p.Glu550Gly)
c.1886A>G (p.Glu629Gly)
15g.74180784T>GCA393128723STRA6c.1838A>C (p.Glu613Ala)
c.1814A>C (p.Glu605Ala)
c.1811A>C (p.Glu604Ala)
c.1949A>C (p.Glu650Ala)
n.1547A>C
c.1955A>C (p.Glu652Ala)
c.693A>C
c.1883A>C (p.Glu628Ala)
n.2110A>C
c.1649A>C (p.Glu550Ala)
c.1886A>C (p.Glu629Ala)
15g.74180785C>ACA393128727STRA6c.1837G>T (p.Glu613Ter)
c.1813G>T (p.Glu605Ter)
c.1810G>T (p.Glu604Ter)
c.1948G>T (p.Glu650Ter)
n.1546G>T
c.1954G>T (p.Glu652Ter)
c.692G>T
c.1882G>T (p.Glu628Ter)
n.2109G>T
c.1648G>T (p.Glu550Ter)
c.1885G>T (p.Glu629Ter)
15g.74180785C=CA2187550031STRA6c.1837G= (p.Glu613=)
c.1813G= (p.Glu605=)
c.1810G= (p.Glu604=)
c.1948G= (p.Glu650=)
n.1546G=
c.1954G= (p.Glu652=)
c.692G=
c.1882G= (p.Glu628=)
n.2109G=
c.1648G= (p.Glu550=)
c.1885G= (p.Glu629=)
15g.74180785C>GCA393128729STRA6c.1837G>C (p.Glu613Gln)
c.1813G>C (p.Glu605Gln)
c.1810G>C (p.Glu604Gln)
c.1948G>C (p.Glu650Gln)
n.1546G>C
c.1954G>C (p.Glu652Gln)
c.692G>C
c.1882G>C (p.Glu628Gln)
n.2109G>C
c.1648G>C (p.Glu550Gln)
c.1885G>C (p.Glu629Gln)
15g.74180785C>TCA7654428STRA6c.1837G>A (p.Glu613Lys)
c.1813G>A (p.Glu605Lys)
c.1810G>A (p.Glu604Lys)
c.1948G>A (p.Glu650Lys)
n.1546G>A
c.1954G>A (p.Glu652Lys)
c.692G>A
c.1882G>A (p.Glu628Lys)
n.2109G>A
c.1648G>A (p.Glu550Lys)
c.1885G>A (p.Glu629Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180786G>ACA7654429STRA6c.1836C>T (p.Asp612=)
c.1812C>T (p.Asp604=)
c.1809C>T (p.Asp603=)
c.1947C>T (p.Asp649=)
n.1545C>T
c.1953C>T (p.Asp651=)
c.691C>T
c.1881C>T (p.Asp627=)
n.2108C>T
c.1647C>T (p.Asp549=)
c.1884C>T (p.Asp628=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180786G>CCA393128733STRA6c.1836C>G (p.Asp612Glu)
c.1812C>G (p.Asp604Glu)
c.1809C>G (p.Asp603Glu)
c.1947C>G (p.Asp649Glu)
n.1545C>G
c.1953C>G (p.Asp651Glu)
c.691C>G
c.1881C>G (p.Asp627Glu)
n.2108C>G
c.1647C>G (p.Asp549Glu)
c.1884C>G (p.Asp628Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74180786G=CA2187550032STRA6c.1836C= (p.Asp612=)
c.1812C= (p.Asp604=)
c.1809C= (p.Asp603=)
c.1947C= (p.Asp649=)
n.1545C=
c.1953C= (p.Asp651=)
c.691C=
c.1881C= (p.Asp627=)
n.2108C=
c.1647C= (p.Asp549=)
c.1884C= (p.Asp628=)
15g.74180786G>TCA393128735STRA6c.1836C>A (p.Asp612Glu)
c.1812C>A (p.Asp604Glu)
c.1809C>A (p.Asp603Glu)
c.1947C>A (p.Asp649Glu)
n.1545C>A
c.1953C>A (p.Asp651Glu)
c.691C>A
c.1881C>A (p.Asp627Glu)
n.2108C>A
c.1647C>A (p.Asp549Glu)
c.1884C>A (p.Asp628Glu)
15g.74180787T>ACA393128737STRA6c.1835A>T (p.Asp612Val)
c.1811A>T (p.Asp604Val)
c.1808A>T (p.Asp603Val)
c.1946A>T (p.Asp649Val)
n.1544A>T
c.1952A>T (p.Asp651Val)
c.690A>T
c.1880A>T (p.Asp627Val)
n.2107A>T
c.1646A>T (p.Asp549Val)
c.1883A>T (p.Asp628Val)
15g.74180787T>CCA393128739STRA6c.1835A>G (p.Asp612Gly)
c.1811A>G (p.Asp604Gly)
c.1808A>G (p.Asp603Gly)
c.1946A>G (p.Asp649Gly)
n.1544A>G
c.1952A>G (p.Asp651Gly)
c.690A>G
c.1880A>G (p.Asp627Gly)
n.2107A>G
c.1646A>G (p.Asp549Gly)
c.1883A>G (p.Asp628Gly)
15g.74180787T>GCA393128741STRA6c.1835A>C (p.Asp612Ala)
c.1811A>C (p.Asp604Ala)
c.1808A>C (p.Asp603Ala)
c.1946A>C (p.Asp649Ala)
n.1544A>C
c.1952A>C (p.Asp651Ala)
c.690A>C
c.1880A>C (p.Asp627Ala)
n.2107A>C
c.1646A>C (p.Asp549Ala)
c.1883A>C (p.Asp628Ala)
15g.74180788C>ACA393128750STRA6c.1834G>T (p.Asp612Tyr)
c.1810G>T (p.Asp604Tyr)
c.1807G>T (p.Asp603Tyr)
c.1945G>T (p.Asp649Tyr)
n.1543G>T
c.1951G>T (p.Asp651Tyr)
c.689G>T
c.1879G>T (p.Asp627Tyr)
n.2106G>T
c.1645G>T (p.Asp549Tyr)
c.1882G>T (p.Asp628Tyr)
15g.74180788C>GCA393128745STRA6c.1834G>C (p.Asp612His)
c.1810G>C (p.Asp604His)
c.1807G>C (p.Asp603His)
c.1945G>C (p.Asp649His)
n.1543G>C
c.1951G>C (p.Asp651His)
c.689G>C
c.1879G>C (p.Asp627His)
n.2106G>C
c.1645G>C (p.Asp549His)
c.1882G>C (p.Asp628His)
15g.74180788C>TCA393128747STRA6c.1834G>A (p.Asp612Asn)
c.1810G>A (p.Asp604Asn)
c.1807G>A (p.Asp603Asn)
c.1945G>A (p.Asp649Asn)
n.1543G>A
c.1951G>A (p.Asp651Asn)
c.689G>A
c.1879G>A (p.Asp627Asn)
n.2106G>A
c.1645G>A (p.Asp549Asn)
c.1882G>A (p.Asp628Asn)
15g.74180788dupCA2840328187STRA6c.1834dup (p.Asp612GlyfsTer18)
c.1810dup (p.Asp604GlyfsTer18)
c.1807dup (p.Asp603GlyfsTer18)
c.1945dup (p.Asp649GlyfsTer18)
n.1543dup
c.1951dup (p.Asp651GlyfsTer18)
c.689dup
c.1879dup (p.Asp627GlyfsTer18)
n.2106dup
c.1645dup (p.Asp549GlyfsTer18)
c.1882dup (p.Asp628GlyfsTer18)
15g.74180789T>ACA393128751STRA6c.1833A>T (p.Glu611Asp)
c.1809A>T (p.Glu603Asp)
c.1806A>T (p.Glu602Asp)
c.1944A>T (p.Glu648Asp)
n.1542A>T
c.1950A>T (p.Glu650Asp)
c.688A>T
c.1878A>T (p.Glu626Asp)
n.2105A>T
c.1644A>T (p.Glu548Asp)
c.1881A>T (p.Glu627Asp)
15g.74180789T>CCA491170425STRA6c.1833A>G (p.Glu611=)
c.1809A>G (p.Glu603=)
c.1806A>G (p.Glu602=)
c.1944A>G (p.Glu648=)
n.1542A>G
c.1950A>G (p.Glu650=)
c.688A>G
c.1878A>G (p.Glu626=)
n.2105A>G
c.1644A>G (p.Glu548=)
c.1881A>G (p.Glu627=)
15g.74180789T>GCA393128753STRA6c.1833A>C (p.Glu611Asp)
c.1809A>C (p.Glu603Asp)
c.1806A>C (p.Glu602Asp)
c.1944A>C (p.Glu648Asp)
n.1542A>C
c.1950A>C (p.Glu650Asp)
c.688A>C
c.1878A>C (p.Glu626Asp)
n.2105A>C
c.1644A>C (p.Glu548Asp)
c.1881A>C (p.Glu627Asp)
15g.74180790T>ACA393128757STRA6c.1832A>T (p.Glu611Val)
c.1808A>T (p.Glu603Val)
c.1805A>T (p.Glu602Val)
c.1943A>T (p.Glu648Val)
n.1541A>T
c.1949A>T (p.Glu650Val)
c.687A>T
c.1877A>T (p.Glu626Val)
n.2104A>T
c.1643A>T (p.Glu548Val)
c.1880A>T (p.Glu627Val)
15g.74180790T>CCA393128758STRA6c.1832A>G (p.Glu611Gly)
c.1808A>G (p.Glu603Gly)
c.1805A>G (p.Glu602Gly)
c.1943A>G (p.Glu648Gly)
n.1541A>G
c.1949A>G (p.Glu650Gly)
c.687A>G
c.1877A>G (p.Glu626Gly)
n.2104A>G
c.1643A>G (p.Glu548Gly)
c.1880A>G (p.Glu627Gly)
15g.74180790T>GCA393128760STRA6c.1832A>C (p.Glu611Ala)
c.1808A>C (p.Glu603Ala)
c.1805A>C (p.Glu602Ala)
c.1943A>C (p.Glu648Ala)
n.1541A>C
c.1949A>C (p.Glu650Ala)
c.687A>C
c.1877A>C (p.Glu626Ala)
n.2104A>C
c.1643A>C (p.Glu548Ala)
c.1880A>C (p.Glu627Ala)
15g.74180791C>ACA393128763STRA6c.1831G>T (p.Glu611Ter)
c.1807G>T (p.Glu603Ter)
c.1804G>T (p.Glu602Ter)
c.1942G>T (p.Glu648Ter)
n.1540G>T
c.1948G>T (p.Glu650Ter)
c.686G>T
c.1876G>T (p.Glu626Ter)
n.2103G>T
c.1642G>T (p.Glu548Ter)
c.1879G>T (p.Glu627Ter)
15g.74180791C>GCA393128767STRA6c.1831G>C (p.Glu611Gln)
c.1807G>C (p.Glu603Gln)
c.1804G>C (p.Glu602Gln)
c.1942G>C (p.Glu648Gln)
n.1540G>C
c.1948G>C (p.Glu650Gln)
c.686G>C
c.1876G>C (p.Glu626Gln)
n.2103G>C
c.1642G>C (p.Glu548Gln)
c.1879G>C (p.Glu627Gln)
15g.74180791C>TCA393128765STRA6c.1831G>A (p.Glu611Lys)
c.1807G>A (p.Glu603Lys)
c.1804G>A (p.Glu602Lys)
c.1942G>A (p.Glu648Lys)
n.1540G>A
c.1948G>A (p.Glu650Lys)
c.686G>A
c.1876G>A (p.Glu626Lys)
n.2103G>A
c.1642G>A (p.Glu548Lys)
c.1879G>A (p.Glu627Lys)
 COSMIC COSMIC
15g.74180792C>ACA393128770STRA6c.1830G>T (p.Glu610Asp)
c.1806G>T (p.Glu602Asp)
c.1803G>T (p.Glu601Asp)
c.1941G>T (p.Glu647Asp)
n.1539G>T
c.1947G>T (p.Glu649Asp)
c.685G>T
c.1875G>T (p.Glu625Asp)
n.2102G>T
c.1641G>T (p.Glu547Asp)
c.1878G>T (p.Glu626Asp)
15g.74180792C=CA2187550033STRA6c.1830G= (p.Glu610=)
c.1806G= (p.Glu602=)
c.1803G= (p.Glu601=)
c.1941G= (p.Glu647=)
n.1539G=
c.1947G= (p.Glu649=)
c.685G=
c.1875G= (p.Glu625=)
n.2102G=
c.1641G= (p.Glu547=)
c.1878G= (p.Glu626=)
15g.74180792C>GCA393128772STRA6c.1830G>C (p.Glu610Asp)
c.1806G>C (p.Glu602Asp)
c.1803G>C (p.Glu601Asp)
c.1941G>C (p.Glu647Asp)
n.1539G>C
c.1947G>C (p.Glu649Asp)
c.685G>C
c.1875G>C (p.Glu625Asp)
n.2102G>C
c.1641G>C (p.Glu547Asp)
c.1878G>C (p.Glu626Asp)
15g.74180792C>TCA7654430STRA6c.1830G>A (p.Glu610=)
c.1806G>A (p.Glu602=)
c.1803G>A (p.Glu601=)
c.1941G>A (p.Glu647=)
n.1539G>A
c.1947G>A (p.Glu649=)
c.685G>A
c.1875G>A (p.Glu625=)
n.2102G>A
c.1641G>A (p.Glu547=)
c.1878G>A (p.Glu626=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180793T>ACA393128777STRA6c.1829A>T (p.Glu610Val)
c.1805A>T (p.Glu602Val)
c.1802A>T (p.Glu601Val)
c.1940A>T (p.Glu647Val)
n.1538A>T
c.1946A>T (p.Glu649Val)
c.684A>T
c.1874A>T (p.Glu625Val)
n.2101A>T
c.1640A>T (p.Glu547Val)
c.1877A>T (p.Glu626Val)
15g.74180793T>CCA393128779STRA6c.1829A>G (p.Glu610Gly)
c.1805A>G (p.Glu602Gly)
c.1802A>G (p.Glu601Gly)
c.1940A>G (p.Glu647Gly)
n.1538A>G
c.1946A>G (p.Glu649Gly)
c.684A>G
c.1874A>G (p.Glu625Gly)
n.2101A>G
c.1640A>G (p.Glu547Gly)
c.1877A>G (p.Glu626Gly)
15g.74180793T>GCA393128781STRA6c.1829A>C (p.Glu610Ala)
c.1805A>C (p.Glu602Ala)
c.1802A>C (p.Glu601Ala)
c.1940A>C (p.Glu647Ala)
n.1538A>C
c.1946A>C (p.Glu649Ala)
c.684A>C
c.1874A>C (p.Glu625Ala)
n.2101A>C
c.1640A>C (p.Glu547Ala)
c.1877A>C (p.Glu626Ala)
15g.74180794C>ACA393128785STRA6c.1828G>T (p.Glu610Ter)
c.1804G>T (p.Glu602Ter)
c.1801G>T (p.Glu601Ter)
c.1939G>T (p.Glu647Ter)
n.1537G>T
c.1945G>T (p.Glu649Ter)
c.683G>T
c.1873G>T (p.Glu625Ter)
n.2100G>T
c.1639G>T (p.Glu547Ter)
c.1876G>T (p.Glu626Ter)
15g.74180794C=CA2187550034STRA6c.1828G= (p.Glu610=)
c.1804G= (p.Glu602=)
c.1801G= (p.Glu601=)
c.1939G= (p.Glu647=)
n.1537G=
c.1945G= (p.Glu649=)
c.683G=
c.1873G= (p.Glu625=)
n.2100G=
c.1639G= (p.Glu547=)
c.1876G= (p.Glu626=)
15g.74180794C>GCA393128787STRA6c.1828G>C (p.Glu610Gln)
c.1804G>C (p.Glu602Gln)
c.1801G>C (p.Glu601Gln)
c.1939G>C (p.Glu647Gln)
n.1537G>C
c.1945G>C (p.Glu649Gln)
c.683G>C
c.1873G>C (p.Glu625Gln)
n.2100G>C
c.1639G>C (p.Glu547Gln)
c.1876G>C (p.Glu626Gln)
 gnomAD v4
15g.74180794C>TCA7654431STRA6c.1828G>A (p.Glu610Lys)
c.1804G>A (p.Glu602Lys)
c.1801G>A (p.Glu601Lys)
c.1939G>A (p.Glu647Lys)
n.1537G>A
c.1945G>A (p.Glu649Lys)
c.683G>A
c.1873G>A (p.Glu625Lys)
n.2100G>A
c.1639G>A (p.Glu547Lys)
c.1876G>A (p.Glu626Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180797dupCA2840328188STRA6c.1828dup (p.Glu610GlyfsTer20)
c.1804dup (p.Glu602GlyfsTer20)
c.1801dup (p.Glu601GlyfsTer20)
c.1939dup (p.Glu647GlyfsTer20)
n.1537dup
c.1945dup (p.Glu649GlyfsTer20)
c.683dup
c.1873dup (p.Glu625GlyfsTer20)
n.2100dup
c.1639dup (p.Glu547GlyfsTer20)
c.1876dup (p.Glu626GlyfsTer20)
15g.74180795C>ACA491170431STRA6c.1827G>T (p.Gly609=)
c.1803G>T (p.Gly601=)
c.1800G>T (p.Gly600=)
c.1938G>T (p.Gly646=)
n.1536G>T
c.1944G>T (p.Gly648=)
c.682G>T
c.1872G>T (p.Gly624=)
n.2099G>T
c.1638G>T (p.Gly546=)
c.1875G>T (p.Gly625=)
15g.74180795C=CA2187550035STRA6c.1827G= (p.Gly609=)
c.1803G= (p.Gly601=)
c.1800G= (p.Gly600=)
c.1938G= (p.Gly646=)
n.1536G=
c.1944G= (p.Gly648=)
c.682G=
c.1872G= (p.Gly624=)
n.2099G=
c.1638G= (p.Gly546=)
c.1875G= (p.Gly625=)
15g.74180795C>GCA491170432STRA6c.1827G>C (p.Gly609=)
c.1803G>C (p.Gly601=)
c.1800G>C (p.Gly600=)
c.1938G>C (p.Gly646=)
n.1536G>C
c.1944G>C (p.Gly648=)
c.682G>C
c.1872G>C (p.Gly624=)
n.2099G>C
c.1638G>C (p.Gly546=)
c.1875G>C (p.Gly625=)
15g.74180795C>TCA272746564STRA6c.1827G>A (p.Gly609=)
c.1803G>A (p.Gly601=)
c.1800G>A (p.Gly600=)
c.1938G>A (p.Gly646=)
n.1536G>A
c.1944G>A (p.Gly648=)
c.682G>A
c.1872G>A (p.Gly624=)
n.2099G>A
c.1638G>A (p.Gly546=)
c.1875G>A (p.Gly625=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74180796C>ACA393128793STRA6c.1826G>T (p.Gly609Val)
c.1802G>T (p.Gly601Val)
c.1799G>T (p.Gly600Val)
c.1937G>T (p.Gly646Val)
n.1535G>T
c.1943G>T (p.Gly648Val)
c.681G>T
c.1871G>T (p.Gly624Val)
n.2098G>T
c.1637G>T (p.Gly546Val)
c.1874G>T (p.Gly625Val)
 dbSNP gnomAD v3 gnomAD v4
15g.74180796C=CA2187550036STRA6c.1826G= (p.Gly609=)
c.1802G= (p.Gly601=)
c.1799G= (p.Gly600=)
c.1937G= (p.Gly646=)
n.1535G=
c.1943G= (p.Gly648=)
c.681G=
c.1871G= (p.Gly624=)
n.2098G=
c.1637G= (p.Gly546=)
c.1874G= (p.Gly625=)
15g.74180796C>GCA393128795STRA6c.1826G>C (p.Gly609Ala)
c.1802G>C (p.Gly601Ala)
c.1799G>C (p.Gly600Ala)
c.1937G>C (p.Gly646Ala)
n.1535G>C
c.1943G>C (p.Gly648Ala)
c.681G>C
c.1871G>C (p.Gly624Ala)
n.2098G>C
c.1637G>C (p.Gly546Ala)
c.1874G>C (p.Gly625Ala)
15g.74180796C>TCA393128797STRA6c.1826G>A (p.Gly609Glu)
c.1802G>A (p.Gly601Glu)
c.1799G>A (p.Gly600Glu)
c.1937G>A (p.Gly646Glu)
n.1535G>A
c.1943G>A (p.Gly648Glu)
c.681G>A
c.1871G>A (p.Gly624Glu)
n.2098G>A
c.1637G>A (p.Gly546Glu)
c.1874G>A (p.Gly625Glu)
 COSMIC COSMIC
15g.74180797C>ACA393128800STRA6c.1825G>T (p.Gly609Trp)
c.1801G>T (p.Gly601Trp)
c.1798G>T (p.Gly600Trp)
c.1936G>T (p.Gly646Trp)
n.1534G>T
c.1942G>T (p.Gly648Trp)
c.680G>T
c.1870G>T (p.Gly624Trp)
n.2097G>T
c.1636G>T (p.Gly546Trp)
c.1873G>T (p.Gly625Trp)
15g.74180797C=CA2187550037STRA6c.1825G= (p.Gly609=)
c.1801G= (p.Gly601=)
c.1798G= (p.Gly600=)
c.1936G= (p.Gly646=)
n.1534G=
c.1942G= (p.Gly648=)
c.680G=
c.1870G= (p.Gly624=)
n.2097G=
c.1636G= (p.Gly546=)
c.1873G= (p.Gly625=)
15g.74180797C>GCA393128804STRA6c.1825G>C (p.Gly609Arg)
c.1801G>C (p.Gly601Arg)
c.1798G>C (p.Gly600Arg)
c.1936G>C (p.Gly646Arg)
n.1534G>C
c.1942G>C (p.Gly648Arg)
c.680G>C
c.1870G>C (p.Gly624Arg)
n.2097G>C
c.1636G>C (p.Gly546Arg)
c.1873G>C (p.Gly625Arg)
15g.74180797C>TCA393128802STRA6c.1825G>A (p.Gly609Arg)
c.1801G>A (p.Gly601Arg)
c.1798G>A (p.Gly600Arg)
c.1936G>A (p.Gly646Arg)
n.1534G>A
c.1942G>A (p.Gly648Arg)
c.680G>A
c.1870G>A (p.Gly624Arg)
n.2097G>A
c.1636G>A (p.Gly546Arg)
c.1873G>A (p.Gly625Arg)
 dbSNP gnomAD v3 gnomAD v4
15g.74180798T>ACA491170434STRA6c.1824A>T (p.Pro608=)
c.1800A>T (p.Pro600=)
c.1797A>T (p.Pro599=)
c.1935A>T (p.Pro645=)
n.1533A>T
c.1941A>T (p.Pro647=)
c.679A>T
c.1869A>T (p.Pro623=)
n.2096A>T
c.1635A>T (p.Pro545=)
c.1872A>T (p.Pro624=)
15g.74180798T>CCA491170436STRA6c.1824A>G (p.Pro608=)
c.1800A>G (p.Pro600=)
c.1797A>G (p.Pro599=)
c.1935A>G (p.Pro645=)
n.1533A>G
c.1941A>G (p.Pro647=)
c.679A>G
c.1869A>G (p.Pro623=)
n.2096A>G
c.1635A>G (p.Pro545=)
c.1872A>G (p.Pro624=)
 dbSNP
15g.74180798T>GCA491170438STRA6c.1824A>C (p.Pro608=)
c.1800A>C (p.Pro600=)
c.1797A>C (p.Pro599=)
c.1935A>C (p.Pro645=)
n.1533A>C
c.1941A>C (p.Pro647=)
c.679A>C
c.1869A>C (p.Pro623=)
n.2096A>C
c.1635A>C (p.Pro545=)
c.1872A>C (p.Pro624=)
15g.74180798T=CA2187550038STRA6c.1824A= (p.Pro608=)
c.1800A= (p.Pro600=)
c.1797A= (p.Pro599=)
c.1935A= (p.Pro645=)
n.1533A=
c.1941A= (p.Pro647=)
c.679A=
c.1869A= (p.Pro623=)
n.2096A=
c.1635A= (p.Pro545=)
c.1872A= (p.Pro624=)
15g.74180799G>ACA393128807STRA6c.1823C>T (p.Pro608Leu)
c.1799C>T (p.Pro600Leu)
c.1796C>T (p.Pro599Leu)
c.1934C>T (p.Pro645Leu)
n.1532C>T
c.1940C>T (p.Pro647Leu)
c.678C>T
c.1868C>T (p.Pro623Leu)
n.2095C>T
c.1634C>T (p.Pro545Leu)
c.1871C>T (p.Pro624Leu)
 dbSNP gnomAD v4
15g.74180799G>CCA393128810STRA6c.1823C>G (p.Pro608Arg)
c.1799C>G (p.Pro600Arg)
c.1796C>G (p.Pro599Arg)
c.1934C>G (p.Pro645Arg)
n.1532C>G
c.1940C>G (p.Pro647Arg)
c.678C>G
c.1868C>G (p.Pro623Arg)
n.2095C>G
c.1634C>G (p.Pro545Arg)
c.1871C>G (p.Pro624Arg)
15g.74180799G=CA2187550039STRA6c.1823C= (p.Pro608=)
c.1799C= (p.Pro600=)
c.1796C= (p.Pro599=)
c.1934C= (p.Pro645=)
n.1532C=
c.1940C= (p.Pro647=)
c.678C=
c.1868C= (p.Pro623=)
n.2095C=
c.1634C= (p.Pro545=)
c.1871C= (p.Pro624=)
15g.74180799G>TCA393128808STRA6c.1823C>A (p.Pro608Gln)
c.1799C>A (p.Pro600Gln)
c.1796C>A (p.Pro599Gln)
c.1934C>A (p.Pro645Gln)
n.1532C>A
c.1940C>A (p.Pro647Gln)
c.678C>A
c.1868C>A (p.Pro623Gln)
n.2095C>A
c.1634C>A (p.Pro545Gln)
c.1871C>A (p.Pro624Gln)
15g.74180800G>ACA393128813STRA6c.1822C>T (p.Pro608Ser)
c.1798C>T (p.Pro600Ser)
c.1795C>T (p.Pro599Ser)
c.1933C>T (p.Pro645Ser)
n.1531C>T
c.1939C>T (p.Pro647Ser)
c.677C>T
c.1867C>T (p.Pro623Ser)
n.2094C>T
c.1633C>T (p.Pro545Ser)
c.1870C>T (p.Pro624Ser)
15g.74180800G>CCA393128817STRA6c.1822C>G (p.Pro608Ala)
c.1798C>G (p.Pro600Ala)
c.1795C>G (p.Pro599Ala)
c.1933C>G (p.Pro645Ala)
n.1531C>G
c.1939C>G (p.Pro647Ala)
c.677C>G
c.1867C>G (p.Pro623Ala)
n.2094C>G
c.1633C>G (p.Pro545Ala)
c.1870C>G (p.Pro624Ala)
15g.74180800G>TCA393128815STRA6c.1822C>A (p.Pro608Thr)
c.1798C>A (p.Pro600Thr)
c.1795C>A (p.Pro599Thr)
c.1933C>A (p.Pro645Thr)
n.1531C>A
c.1939C>A (p.Pro647Thr)
c.677C>A
c.1867C>A (p.Pro623Thr)
n.2094C>A
c.1633C>A (p.Pro545Thr)
c.1870C>A (p.Pro624Thr)
15g.74180801T>ACA393128821STRA6c.1821A>T (p.Arg607Ser)
c.1797A>T (p.Arg599Ser)
c.1794A>T (p.Arg598Ser)
c.1932A>T (p.Arg644Ser)
n.1530A>T
c.1938A>T (p.Arg646Ser)
c.676A>T
c.1866A>T (p.Arg622Ser)
n.2093A>T
c.1632A>T (p.Arg544Ser)
c.1869A>T (p.Arg623Ser)
15g.74180801T>CCA491170440STRA6c.1821A>G (p.Arg607=)
c.1797A>G (p.Arg599=)
c.1794A>G (p.Arg598=)
c.1932A>G (p.Arg644=)
n.1530A>G
c.1938A>G (p.Arg646=)
c.676A>G
c.1866A>G (p.Arg622=)
n.2093A>G
c.1632A>G (p.Arg544=)
c.1869A>G (p.Arg623=)
15g.74180801T>GCA393128822STRA6c.1821A>C (p.Arg607Ser)
c.1797A>C (p.Arg599Ser)
c.1794A>C (p.Arg598Ser)
c.1932A>C (p.Arg644Ser)
n.1530A>C
c.1938A>C (p.Arg646Ser)
c.676A>C
c.1866A>C (p.Arg622Ser)
n.2093A>C
c.1632A>C (p.Arg544Ser)
c.1869A>C (p.Arg623Ser)
15g.74180801dupCA2629451663STRA6c.1821dup (p.Pro608ThrfsTer22)
c.1797dup (p.Pro600ThrfsTer22)
c.1794dup (p.Pro599ThrfsTer22)
c.1932dup (p.Pro645ThrfsTer22)
n.1530dup
c.1938dup (p.Pro647ThrfsTer22)
c.676dup
c.1866dup (p.Pro623ThrfsTer22)
n.2093dup
c.1632dup (p.Pro545ThrfsTer22)
c.1869dup (p.Pro624ThrfsTer22)
 gnomAD v4
15g.74180802C>ACA393128825STRA6c.1820G>T (p.Arg607Ile)
c.1796G>T (p.Arg599Ile)
c.1793G>T (p.Arg598Ile)
c.1931G>T (p.Arg644Ile)
n.1529G>T
c.1937G>T (p.Arg646Ile)
c.675G>T
c.1865G>T (p.Arg622Ile)
n.2092G>T
c.1631G>T (p.Arg544Ile)
c.1868G>T (p.Arg623Ile)
15g.74180802C>GCA393128827STRA6c.1820G>C (p.Arg607Thr)
c.1796G>C (p.Arg599Thr)
c.1793G>C (p.Arg598Thr)
c.1931G>C (p.Arg644Thr)
n.1529G>C
c.1937G>C (p.Arg646Thr)
c.675G>C
c.1865G>C (p.Arg622Thr)
n.2092G>C
c.1631G>C (p.Arg544Thr)
c.1868G>C (p.Arg623Thr)
 gnomAD v4
15g.74180802C>TCA393128829STRA6c.1820G>A (p.Arg607Lys)
c.1796G>A (p.Arg599Lys)
c.1793G>A (p.Arg598Lys)
c.1931G>A (p.Arg644Lys)
n.1529G>A
c.1937G>A (p.Arg646Lys)
c.675G>A
c.1865G>A (p.Arg622Lys)
n.2092G>A
c.1631G>A (p.Arg544Lys)
c.1868G>A (p.Arg623Lys)
15g.74180803T>ACA393128831STRA6c.1819A>T (p.Arg607Ter)
c.1795A>T (p.Arg599Ter)
c.1792A>T (p.Arg598Ter)
c.1930A>T (p.Arg644Ter)
n.1528A>T
c.1936A>T (p.Arg646Ter)
c.674A>T
c.1864A>T (p.Arg622Ter)
n.2091A>T
c.1630A>T (p.Arg544Ter)
c.1867A>T (p.Arg623Ter)
15g.74180803T>CCA393128833STRA6c.1819A>G (p.Arg607Gly)
c.1795A>G (p.Arg599Gly)
c.1792A>G (p.Arg598Gly)
c.1930A>G (p.Arg644Gly)
n.1528A>G
c.1936A>G (p.Arg646Gly)
c.674A>G
c.1864A>G (p.Arg622Gly)
n.2091A>G
c.1630A>G (p.Arg544Gly)
c.1867A>G (p.Arg623Gly)
15g.74180803T>GCA491170445STRA6c.1819A>C (p.Arg607=)
c.1795A>C (p.Arg599=)
c.1792A>C (p.Arg598=)
c.1930A>C (p.Arg644=)
n.1528A>C
c.1936A>C (p.Arg646=)
c.674A>C
c.1864A>C (p.Arg622=)
n.2091A>C
c.1630A>C (p.Arg544=)
c.1867A>C (p.Arg623=)
 dbSNP
15g.74180803T=CA2187550040STRA6c.1819A= (p.Arg607=)
c.1795A= (p.Arg599=)
c.1792A= (p.Arg598=)
c.1930A= (p.Arg644=)
n.1528A=
c.1936A= (p.Arg646=)
c.674A=
c.1864A= (p.Arg622=)
n.2091A=
c.1630A= (p.Arg544=)
c.1867A= (p.Arg623=)
15g.74180804G>ACA491170446STRA6c.1818C>T (p.Leu606=)
c.1794C>T (p.Leu598=)
c.1791C>T (p.Leu597=)
c.1929C>T (p.Leu643=)
n.1527C>T
c.1935C>T (p.Leu645=)
c.673C>T
c.1863C>T (p.Leu621=)
n.2090C>T
c.1629C>T (p.Leu543=)
c.1866C>T (p.Leu622=)
 gnomAD v4
15g.74180804G>CCA7654432STRA6c.1818C>G (p.Leu606=)
c.1794C>G (p.Leu598=)
c.1791C>G (p.Leu597=)
c.1929C>G (p.Leu643=)
n.1527C>G
c.1935C>G (p.Leu645=)
c.673C>G
c.1863C>G (p.Leu621=)
n.2090C>G
c.1629C>G (p.Leu543=)
c.1866C>G (p.Leu622=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180804G=CA2187550041STRA6c.1818C= (p.Leu606=)
c.1794C= (p.Leu598=)
c.1791C= (p.Leu597=)
c.1929C= (p.Leu643=)
n.1527C=
c.1935C= (p.Leu645=)
c.673C=
c.1863C= (p.Leu621=)
n.2090C=
c.1629C= (p.Leu543=)
c.1866C= (p.Leu622=)
15g.74180804G>TCA491170447STRA6c.1818C>A (p.Leu606=)
c.1794C>A (p.Leu598=)
c.1791C>A (p.Leu597=)
c.1929C>A (p.Leu643=)
n.1527C>A
c.1935C>A (p.Leu645=)
c.673C>A
c.1863C>A (p.Leu621=)
n.2090C>A
c.1629C>A (p.Leu543=)
c.1866C>A (p.Leu622=)
15g.74180805A=CA2187550042STRA6c.1817T= (p.Leu606=)
c.1793T= (p.Leu598=)
c.1790T= (p.Leu597=)
c.1928T= (p.Leu643=)
n.1526T=
c.1934T= (p.Leu645=)
c.672T=
c.1862T= (p.Leu621=)
n.2089T=
c.1628T= (p.Leu543=)
c.1865T= (p.Leu622=)
15g.74180805A>CCA7654433STRA6c.1817T>G (p.Leu606Arg)
c.1793T>G (p.Leu598Arg)
c.1790T>G (p.Leu597Arg)
c.1928T>G (p.Leu643Arg)
n.1526T>G
c.1934T>G (p.Leu645Arg)
c.672T>G
c.1862T>G (p.Leu621Arg)
n.2089T>G
c.1628T>G (p.Leu543Arg)
c.1865T>G (p.Leu622Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180805A>GCA393128838STRA6c.1817T>C (p.Leu606Pro)
c.1793T>C (p.Leu598Pro)
c.1790T>C (p.Leu597Pro)
c.1928T>C (p.Leu643Pro)
n.1526T>C
c.1934T>C (p.Leu645Pro)
c.672T>C
c.1862T>C (p.Leu621Pro)
n.2089T>C
c.1628T>C (p.Leu543Pro)
c.1865T>C (p.Leu622Pro)
15g.74180805A>TCA393128840STRA6c.1817T>A (p.Leu606His)
c.1793T>A (p.Leu598His)
c.1790T>A (p.Leu597His)
c.1928T>A (p.Leu643His)
n.1526T>A
c.1934T>A (p.Leu645His)
c.672T>A
c.1862T>A (p.Leu621His)
n.2089T>A
c.1628T>A (p.Leu543His)
c.1865T>A (p.Leu622His)
15g.74180806G>ACA393128848STRA6c.1816C>T (p.Leu606Phe)
c.1792C>T (p.Leu598Phe)
c.1789C>T (p.Leu597Phe)
c.1927C>T (p.Leu643Phe)
n.1525C>T
c.1933C>T (p.Leu645Phe)
c.671C>T
c.1861C>T (p.Leu621Phe)
n.2088C>T
c.1627C>T (p.Leu543Phe)
c.1864C>T (p.Leu622Phe)
15g.74180806G>CCA393128844STRA6c.1816C>G (p.Leu606Val)
c.1792C>G (p.Leu598Val)
c.1789C>G (p.Leu597Val)
c.1927C>G (p.Leu643Val)
n.1525C>G
c.1933C>G (p.Leu645Val)
c.671C>G
c.1861C>G (p.Leu621Val)
n.2088C>G
c.1627C>G (p.Leu543Val)
c.1864C>G (p.Leu622Val)
 gnomAD v4
15g.74180806G>TCA393128845STRA6c.1816C>A (p.Leu606Ile)
c.1792C>A (p.Leu598Ile)
c.1789C>A (p.Leu597Ile)
c.1927C>A (p.Leu643Ile)
n.1525C>A
c.1933C>A (p.Leu645Ile)
c.671C>A
c.1861C>A (p.Leu621Ile)
n.2088C>A
c.1627C>A (p.Leu543Ile)
c.1864C>A (p.Leu622Ile)
15g.74180807G>ACA491170451STRA6c.1815C>T (p.Ser605=)
c.1791C>T (p.Ser597=)
c.1788C>T (p.Ser596=)
c.1926C>T (p.Ser642=)
n.1524C>T
c.1932C>T (p.Ser644=)
c.670C>T
c.1860C>T (p.Ser620=)
n.2087C>T
c.1626C>T (p.Ser542=)
c.1863C>T (p.Ser621=)
15g.74180807G>CCA393128850STRA6c.1815C>G (p.Ser605Arg)
c.1791C>G (p.Ser597Arg)
c.1788C>G (p.Ser596Arg)
c.1926C>G (p.Ser642Arg)
n.1524C>G
c.1932C>G (p.Ser644Arg)
c.670C>G
c.1860C>G (p.Ser620Arg)
n.2087C>G
c.1626C>G (p.Ser542Arg)
c.1863C>G (p.Ser621Arg)
 gnomAD v4
15g.74180807G>TCA393128853STRA6c.1815C>A (p.Ser605Arg)
c.1791C>A (p.Ser597Arg)
c.1788C>A (p.Ser596Arg)
c.1926C>A (p.Ser642Arg)
n.1524C>A
c.1932C>A (p.Ser644Arg)
c.670C>A
c.1860C>A (p.Ser620Arg)
n.2087C>A
c.1626C>A (p.Ser542Arg)
c.1863C>A (p.Ser621Arg)
15g.74180808C>ACA393128855STRA6c.1814G>T (p.Ser605Ile)
c.1790G>T (p.Ser597Ile)
c.1787G>T (p.Ser596Ile)
c.1925G>T (p.Ser642Ile)
n.1523G>T
c.1931G>T (p.Ser644Ile)
c.669G>T
c.1859G>T (p.Ser620Ile)
n.2086G>T
c.1625G>T (p.Ser542Ile)
c.1862G>T (p.Ser621Ile)
15g.74180808C=CA2187550043STRA6c.1814G= (p.Ser605=)
c.1790G= (p.Ser597=)
c.1787G= (p.Ser596=)
c.1925G= (p.Ser642=)
n.1523G=
c.1931G= (p.Ser644=)
c.669G=
c.1859G= (p.Ser620=)
n.2086G=
c.1625G= (p.Ser542=)
c.1862G= (p.Ser621=)
15g.74180808C>GCA7654434STRA6c.1814G>C (p.Ser605Thr)
c.1790G>C (p.Ser597Thr)
c.1787G>C (p.Ser596Thr)
c.1925G>C (p.Ser642Thr)
n.1523G>C
c.1931G>C (p.Ser644Thr)
c.669G>C
c.1859G>C (p.Ser620Thr)
n.2086G>C
c.1625G>C (p.Ser542Thr)
c.1862G>C (p.Ser621Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180808C>TCA393128858STRA6c.1814G>A (p.Ser605Asn)
c.1790G>A (p.Ser597Asn)
c.1787G>A (p.Ser596Asn)
c.1925G>A (p.Ser642Asn)
n.1523G>A
c.1931G>A (p.Ser644Asn)
c.669G>A
c.1859G>A (p.Ser620Asn)
n.2086G>A
c.1625G>A (p.Ser542Asn)
c.1862G>A (p.Ser621Asn)
15g.74180809T>ACA393128860STRA6c.1813A>T (p.Ser605Cys)
c.1789A>T (p.Ser597Cys)
c.1786A>T (p.Ser596Cys)
c.1924A>T (p.Ser642Cys)
n.1522A>T
c.1930A>T (p.Ser644Cys)
c.668A>T
c.1858A>T (p.Ser620Cys)
n.2085A>T
c.1624A>T (p.Ser542Cys)
c.1861A>T (p.Ser621Cys)
15g.74180809T>CCA393128862STRA6c.1813A>G (p.Ser605Gly)
c.1789A>G (p.Ser597Gly)
c.1786A>G (p.Ser596Gly)
c.1924A>G (p.Ser642Gly)
n.1522A>G
c.1930A>G (p.Ser644Gly)
c.668A>G
c.1858A>G (p.Ser620Gly)
n.2085A>G
c.1624A>G (p.Ser542Gly)
c.1861A>G (p.Ser621Gly)
15g.74180809T>GCA393128864STRA6c.1813A>C (p.Ser605Arg)
c.1789A>C (p.Ser597Arg)
c.1786A>C (p.Ser596Arg)
c.1924A>C (p.Ser642Arg)
n.1522A>C
c.1930A>C (p.Ser644Arg)
c.668A>C
c.1858A>C (p.Ser620Arg)
n.2085A>C
c.1624A>C (p.Ser542Arg)
c.1861A>C (p.Ser621Arg)
15g.74180810G>ACA491170455STRA6c.1812C>T (p.Asp604=)
c.1788C>T (p.Asp596=)
c.1785C>T (p.Asp595=)
c.1923C>T (p.Asp641=)
n.1521C>T
c.1929C>T (p.Asp643=)
c.667C>T
c.1857C>T (p.Asp619=)
n.2084C>T
c.1623C>T (p.Asp541=)
c.1860C>T (p.Asp620=)
15g.74180810G>CCA393128866STRA6c.1812C>G (p.Asp604Glu)
c.1788C>G (p.Asp596Glu)
c.1785C>G (p.Asp595Glu)
c.1923C>G (p.Asp641Glu)
n.1521C>G
c.1929C>G (p.Asp643Glu)
c.667C>G
c.1857C>G (p.Asp619Glu)
n.2084C>G
c.1623C>G (p.Asp541Glu)
c.1860C>G (p.Asp620Glu)
15g.74180810G>TCA393128868STRA6c.1812C>A (p.Asp604Glu)
c.1788C>A (p.Asp596Glu)
c.1785C>A (p.Asp595Glu)
c.1923C>A (p.Asp641Glu)
n.1521C>A
c.1929C>A (p.Asp643Glu)
c.667C>A
c.1857C>A (p.Asp619Glu)
n.2084C>A
c.1623C>A (p.Asp541Glu)
c.1860C>A (p.Asp620Glu)
15g.74180811T>ACA393128872STRA6c.1811A>T (p.Asp604Val)
c.1787A>T (p.Asp596Val)
c.1784A>T (p.Asp595Val)
c.1922A>T (p.Asp641Val)
n.1520A>T
c.1928A>T (p.Asp643Val)
c.666A>T
c.1856A>T (p.Asp619Val)
n.2083A>T
c.1622A>T (p.Asp541Val)
c.1859A>T (p.Asp620Val)
15g.74180811T>CCA393128870STRA6c.1811A>G (p.Asp604Gly)
c.1787A>G (p.Asp596Gly)
c.1784A>G (p.Asp595Gly)
c.1922A>G (p.Asp641Gly)
n.1520A>G
c.1928A>G (p.Asp643Gly)
c.666A>G
c.1856A>G (p.Asp619Gly)
n.2083A>G
c.1622A>G (p.Asp541Gly)
c.1859A>G (p.Asp620Gly)
 gnomAD v4
15g.74180811T>GCA393128869STRA6c.1811A>C (p.Asp604Ala)
c.1787A>C (p.Asp596Ala)
c.1784A>C (p.Asp595Ala)
c.1922A>C (p.Asp641Ala)
n.1520A>C
c.1928A>C (p.Asp643Ala)
c.666A>C
c.1856A>C (p.Asp619Ala)
n.2083A>C
c.1622A>C (p.Asp541Ala)
c.1859A>C (p.Asp620Ala)
15g.74180812C>ACA393128875STRA6c.1810G>T (p.Asp604Tyr)
c.1786G>T (p.Asp596Tyr)
c.1783G>T (p.Asp595Tyr)
c.1921G>T (p.Asp641Tyr)
n.1519G>T
c.1927G>T (p.Asp643Tyr)
c.665G>T
c.1855G>T (p.Asp619Tyr)
n.2082G>T
c.1621G>T (p.Asp541Tyr)
c.1858G>T (p.Asp620Tyr)
15g.74180812C=CA2187550044STRA6c.1810G= (p.Asp604=)
c.1786G= (p.Asp596=)
c.1783G= (p.Asp595=)
c.1921G= (p.Asp641=)
n.1519G=
c.1927G= (p.Asp643=)
c.665G=
c.1855G= (p.Asp619=)
n.2082G=
c.1621G= (p.Asp541=)
c.1858G= (p.Asp620=)
15g.74180812C>GCA7654435STRA6c.1810G>C (p.Asp604His)
c.1786G>C (p.Asp596His)
c.1783G>C (p.Asp595His)
c.1921G>C (p.Asp641His)
n.1519G>C
c.1927G>C (p.Asp643His)
c.665G>C
c.1855G>C (p.Asp619His)
n.2082G>C
c.1621G>C (p.Asp541His)
c.1858G>C (p.Asp620His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180812C>TCA7654436STRA6c.1810G>A (p.Asp604Asn)
c.1786G>A (p.Asp596Asn)
c.1783G>A (p.Asp595Asn)
c.1921G>A (p.Asp641Asn)
n.1519G>A
c.1927G>A (p.Asp643Asn)
c.665G>A
c.1855G>A (p.Asp619Asn)
n.2082G>A
c.1621G>A (p.Asp541Asn)
c.1858G>A (p.Asp620Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180813C>ACA393128879STRA6c.1809G>T (p.Gln603His)
c.1785G>T (p.Gln595His)
c.1782G>T (p.Gln594His)
c.1920G>T (p.Gln640His)
n.1518G>T
c.1926G>T (p.Gln642His)
c.664G>T
c.1854G>T (p.Gln618His)
n.2081G>T
c.1620G>T (p.Gln540His)
c.1857G>T (p.Gln619His)
15g.74180813C=CA2187550045STRA6c.1809G= (p.Gln603=)
c.1785G= (p.Gln595=)
c.1782G= (p.Gln594=)
c.1920G= (p.Gln640=)
n.1518G=
c.1926G= (p.Gln642=)
c.664G=
c.1854G= (p.Gln618=)
n.2081G=
c.1620G= (p.Gln540=)
c.1857G= (p.Gln619=)
15g.74180813C>GCA393128880STRA6c.1809G>C (p.Gln603His)
c.1785G>C (p.Gln595His)
c.1782G>C (p.Gln594His)
c.1920G>C (p.Gln640His)
n.1518G>C
c.1926G>C (p.Gln642His)
c.664G>C
c.1854G>C (p.Gln618His)
n.2081G>C
c.1620G>C (p.Gln540His)
c.1857G>C (p.Gln619His)
 dbSNP gnomAD v2 gnomAD v4
15g.74180813C>TCA491170463STRA6c.1809G>A (p.Gln603=)
c.1785G>A (p.Gln595=)
c.1782G>A (p.Gln594=)
c.1920G>A (p.Gln640=)
n.1518G>A
c.1926G>A (p.Gln642=)
c.664G>A
c.1854G>A (p.Gln618=)
n.2081G>A
c.1620G>A (p.Gln540=)
c.1857G>A (p.Gln619=)
 gnomAD v4
15g.74180814T>ACA393128882STRA6c.1808A>T (p.Gln603Leu)
c.1784A>T (p.Gln595Leu)
c.1781A>T (p.Gln594Leu)
c.1919A>T (p.Gln640Leu)
n.1517A>T
c.1925A>T (p.Gln642Leu)
c.663A>T
c.1853A>T (p.Gln618Leu)
n.2080A>T
c.1619A>T (p.Gln540Leu)
c.1856A>T (p.Gln619Leu)
15g.74180814T>CCA393128883STRA6c.1808A>G (p.Gln603Arg)
c.1784A>G (p.Gln595Arg)
c.1781A>G (p.Gln594Arg)
c.1919A>G (p.Gln640Arg)
n.1517A>G
c.1925A>G (p.Gln642Arg)
c.663A>G
c.1853A>G (p.Gln618Arg)
n.2080A>G
c.1619A>G (p.Gln540Arg)
c.1856A>G (p.Gln619Arg)
 gnomAD v4
15g.74180814T>GCA393128884STRA6c.1808A>C (p.Gln603Pro)
c.1784A>C (p.Gln595Pro)
c.1781A>C (p.Gln594Pro)
c.1919A>C (p.Gln640Pro)
n.1517A>C
c.1925A>C (p.Gln642Pro)
c.663A>C
c.1853A>C (p.Gln618Pro)
n.2080A>C
c.1619A>C (p.Gln540Pro)
c.1856A>C (p.Gln619Pro)
15g.74180815G>ACA393128887STRA6c.1807C>T (p.Gln603Ter)
c.1783C>T (p.Gln595Ter)
c.1780C>T (p.Gln594Ter)
c.1918C>T (p.Gln640Ter)
n.1516C>T
c.1924C>T (p.Gln642Ter)
c.662C>T
c.1852C>T (p.Gln618Ter)
n.2079C>T
c.1618C>T (p.Gln540Ter)
c.1855C>T (p.Gln619Ter)
15g.74180815G>CCA393128889STRA6c.1807C>G (p.Gln603Glu)
c.1783C>G (p.Gln595Glu)
c.1780C>G (p.Gln594Glu)
c.1918C>G (p.Gln640Glu)
n.1516C>G
c.1924C>G (p.Gln642Glu)
c.662C>G
c.1852C>G (p.Gln618Glu)
n.2079C>G
c.1618C>G (p.Gln540Glu)
c.1855C>G (p.Gln619Glu)
15g.74180815G>TCA393128891STRA6c.1807C>A (p.Gln603Lys)
c.1783C>A (p.Gln595Lys)
c.1780C>A (p.Gln594Lys)
c.1918C>A (p.Gln640Lys)
n.1516C>A
c.1924C>A (p.Gln642Lys)
c.662C>A
c.1852C>A (p.Gln618Lys)
n.2079C>A
c.1618C>A (p.Gln540Lys)
c.1855C>A (p.Gln619Lys)
15g.74180820dupCA645575925STRA6c.1807dup (p.Gln603ProfsTer27)
c.1783dup (p.Gln595ProfsTer27)
c.1780dup (p.Gln594ProfsTer27)
c.1918dup (p.Gln640ProfsTer27)
n.1516dup
c.1924dup (p.Gln642ProfsTer27)
c.662dup
c.1852dup (p.Gln618ProfsTer27)
n.2079dup
c.1618dup (p.Gln540ProfsTer27)
c.1855dup (p.Gln619ProfsTer27)
 gnomAD v4 COSMIC COSMIC
15g.74180819_74180820dupCA2832568380STRA6c.1806_1807dup (p.Gln603ProfsTer?)
c.1782_1783dup (p.Gln595ProfsTer?)
c.1779_1780dup (p.Gln594ProfsTer?)
c.1917_1918dup (p.Gln640ProfsTer?)
n.1515_1516dup
c.1923_1924dup (p.Gln642ProfsTer?)
c.661_662dup
c.1851_1852dup (p.Gln618ProfsTer?)
n.2078_2079dup
c.1617_1618dup (p.Gln540ProfsTer?)
c.1854_1855dup (p.Gln619ProfsTer?)
15g.74180820delCA491170468STRA6c.1807del (p.Gln603ArgfsTer?)
c.1783del (p.Gln595ArgfsTer?)
c.1780del (p.Gln594ArgfsTer?)
c.1918del (p.Gln640ArgfsTer?)
n.1516del
c.1924del (p.Gln642ArgfsTer?)
c.662del
c.1852del (p.Gln618ArgfsTer?)
n.2079del
c.1618del (p.Gln540ArgfsTer?)
c.1855del (p.Gln619ArgfsTer?)
 COSMIC COSMIC
15g.74180816G>ACA491170471STRA6c.1806C>T (p.Pro602=)
c.1782C>T (p.Pro594=)
c.1779C>T (p.Pro593=)
c.1917C>T (p.Pro639=)
n.1515C>T
c.1923C>T (p.Pro641=)
c.661C>T
c.1851C>T (p.Pro617=)
n.2078C>T
c.1617C>T (p.Pro539=)
c.1854C>T (p.Pro618=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74180816G>CCA491170470STRA6c.1806C>G (p.Pro602=)
c.1782C>G (p.Pro594=)
c.1779C>G (p.Pro593=)
c.1917C>G (p.Pro639=)
n.1515C>G
c.1923C>G (p.Pro641=)
c.661C>G
c.1851C>G (p.Pro617=)
n.2078C>G
c.1617C>G (p.Pro539=)
c.1854C>G (p.Pro618=)
 dbSNP
15g.74180816G=CA2187550046STRA6c.1806C= (p.Pro602=)
c.1782C= (p.Pro594=)
c.1779C= (p.Pro593=)
c.1917C= (p.Pro639=)
n.1515C=
c.1923C= (p.Pro641=)
c.661C=
c.1851C= (p.Pro617=)
n.2078C=
c.1617C= (p.Pro539=)
c.1854C= (p.Pro618=)
15g.74180816G>TCA491170469STRA6c.1806C>A (p.Pro602=)
c.1782C>A (p.Pro594=)
c.1779C>A (p.Pro593=)
c.1917C>A (p.Pro639=)
n.1515C>A
c.1923C>A (p.Pro641=)
c.661C>A
c.1851C>A (p.Pro617=)
n.2078C>A
c.1617C>A (p.Pro539=)
c.1854C>A (p.Pro618=)
15g.74180817G>ACA7654437STRA6c.1805C>T (p.Pro602Leu)
c.1781C>T (p.Pro594Leu)
c.1778C>T (p.Pro593Leu)
c.1916C>T (p.Pro639Leu)
n.1514C>T
c.1922C>T (p.Pro641Leu)
c.660C>T
c.1850C>T (p.Pro617Leu)
n.2077C>T
c.1616C>T (p.Pro539Leu)
c.1853C>T (p.Pro618Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180817G>CCA393128894STRA6c.1805C>G (p.Pro602Arg)
c.1781C>G (p.Pro594Arg)
c.1778C>G (p.Pro593Arg)
c.1916C>G (p.Pro639Arg)
n.1514C>G
c.1922C>G (p.Pro641Arg)
c.660C>G
c.1850C>G (p.Pro617Arg)
n.2077C>G
c.1616C>G (p.Pro539Arg)
c.1853C>G (p.Pro618Arg)
15g.74180817G=CA2187550047STRA6c.1805C= (p.Pro602=)
c.1781C= (p.Pro594=)
c.1778C= (p.Pro593=)
c.1916C= (p.Pro639=)
n.1514C=
c.1922C= (p.Pro641=)
c.660C=
c.1850C= (p.Pro617=)
n.2077C=
c.1616C= (p.Pro539=)
c.1853C= (p.Pro618=)
15g.74180817G>TCA393128893STRA6c.1805C>A (p.Pro602His)
c.1781C>A (p.Pro594His)
c.1778C>A (p.Pro593His)
c.1916C>A (p.Pro639His)
n.1514C>A
c.1922C>A (p.Pro641His)
c.660C>A
c.1850C>A (p.Pro617His)
n.2077C>A
c.1616C>A (p.Pro539His)
c.1853C>A (p.Pro618His)
15g.74180818G>ACA393128897STRA6c.1804C>T (p.Pro602Ser)
c.1780C>T (p.Pro594Ser)
c.1777C>T (p.Pro593Ser)
c.1915C>T (p.Pro639Ser)
n.1513C>T
c.1921C>T (p.Pro641Ser)
c.659C>T
c.1849C>T (p.Pro617Ser)
n.2076C>T
c.1615C>T (p.Pro539Ser)
c.1852C>T (p.Pro618Ser)
15g.74180818G>CCA393128899STRA6c.1804C>G (p.Pro602Ala)
c.1780C>G (p.Pro594Ala)
c.1777C>G (p.Pro593Ala)
c.1915C>G (p.Pro639Ala)
n.1513C>G
c.1921C>G (p.Pro641Ala)
c.659C>G
c.1849C>G (p.Pro617Ala)
n.2076C>G
c.1615C>G (p.Pro539Ala)
c.1852C>G (p.Pro618Ala)
15g.74180818G>TCA393128900STRA6c.1804C>A (p.Pro602Thr)
c.1780C>A (p.Pro594Thr)
c.1777C>A (p.Pro593Thr)
c.1915C>A (p.Pro639Thr)
n.1513C>A
c.1921C>A (p.Pro641Thr)
c.659C>A
c.1849C>A (p.Pro617Thr)
n.2076C>A
c.1615C>A (p.Pro539Thr)
c.1852C>A (p.Pro618Thr)
 gnomAD v4
15g.74180819G>ACA7654438STRA6c.1803C>T (p.Ala601=)
c.1779C>T (p.Ala593=)
c.1776C>T (p.Ala592=)
c.1914C>T (p.Ala638=)
n.1512C>T
c.1920C>T (p.Ala640=)
c.658C>T
c.1848C>T (p.Ala616=)
n.2075C>T
c.1614C>T (p.Ala538=)
c.1851C>T (p.Ala617=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180819G>CCA491170473STRA6c.1803C>G (p.Ala601=)
c.1779C>G (p.Ala593=)
c.1776C>G (p.Ala592=)
c.1914C>G (p.Ala638=)
n.1512C>G
c.1920C>G (p.Ala640=)
c.658C>G
c.1848C>G (p.Ala616=)
n.2075C>G
c.1614C>G (p.Ala538=)
c.1851C>G (p.Ala617=)
 gnomAD v4
15g.74180819G=CA2187550048STRA6c.1803C= (p.Ala601=)
c.1779C= (p.Ala593=)
c.1776C= (p.Ala592=)
c.1914C= (p.Ala638=)
n.1512C=
c.1920C= (p.Ala640=)
c.658C=
c.1848C= (p.Ala616=)
n.2075C=
c.1614C= (p.Ala538=)
c.1851C= (p.Ala617=)
15g.74180819G>TCA491170472STRA6c.1803C>A (p.Ala601=)
c.1779C>A (p.Ala593=)
c.1776C>A (p.Ala592=)
c.1914C>A (p.Ala638=)
n.1512C>A
c.1920C>A (p.Ala640=)
c.658C>A
c.1848C>A (p.Ala616=)
n.2075C>A
c.1614C>A (p.Ala538=)
c.1851C>A (p.Ala617=)
 COSMIC COSMIC
15g.74180820G>ACA393128903STRA6c.1802C>T (p.Ala601Val)
c.1778C>T (p.Ala593Val)
c.1775C>T (p.Ala592Val)
c.1913C>T (p.Ala638Val)
n.1511C>T
c.1919C>T (p.Ala640Val)
c.657C>T
c.1847C>T (p.Ala616Val)
n.2074C>T
c.1613C>T (p.Ala538Val)
c.1850C>T (p.Ala617Val)
 gnomAD v4
15g.74180820G>CCA393128904STRA6c.1802C>G (p.Ala601Gly)
c.1778C>G (p.Ala593Gly)
c.1775C>G (p.Ala592Gly)
c.1913C>G (p.Ala638Gly)
n.1511C>G
c.1919C>G (p.Ala640Gly)
c.657C>G
c.1847C>G (p.Ala616Gly)
n.2074C>G
c.1613C>G (p.Ala538Gly)
c.1850C>G (p.Ala617Gly)
15g.74180820G=CA2187550049STRA6c.1802C= (p.Ala601=)
c.1778C= (p.Ala593=)
c.1775C= (p.Ala592=)
c.1913C= (p.Ala638=)
n.1511C=
c.1919C= (p.Ala640=)
c.657C=
c.1847C= (p.Ala616=)
n.2074C=
c.1613C= (p.Ala538=)
c.1850C= (p.Ala617=)
15g.74180820G>TCA7654439STRA6c.1802C>A (p.Ala601Asp)
c.1778C>A (p.Ala593Asp)
c.1775C>A (p.Ala592Asp)
c.1913C>A (p.Ala638Asp)
n.1511C>A
c.1919C>A (p.Ala640Asp)
c.657C>A
c.1847C>A (p.Ala616Asp)
n.2074C>A
c.1613C>A (p.Ala538Asp)
c.1850C>A (p.Ala617Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180821C>ACA393128906STRA6c.1801G>T (p.Ala601Ser)
c.1777G>T (p.Ala593Ser)
c.1774G>T (p.Ala592Ser)
c.1912G>T (p.Ala638Ser)
n.1510G>T
c.1918G>T (p.Ala640Ser)
c.656G>T
c.1846G>T (p.Ala616Ser)
n.2073G>T
c.1612G>T (p.Ala538Ser)
c.1849G>T (p.Ala617Ser)
 dbSNP
15g.74180821C=CA2187550050STRA6c.1801G= (p.Ala601=)
c.1777G= (p.Ala593=)
c.1774G= (p.Ala592=)
c.1912G= (p.Ala638=)
n.1510G=
c.1918G= (p.Ala640=)
c.656G=
c.1846G= (p.Ala616=)
n.2073G=
c.1612G= (p.Ala538=)
c.1849G= (p.Ala617=)
15g.74180821C>GCA393128908STRA6c.1801G>C (p.Ala601Pro)
c.1777G>C (p.Ala593Pro)
c.1774G>C (p.Ala592Pro)
c.1912G>C (p.Ala638Pro)
n.1510G>C
c.1918G>C (p.Ala640Pro)
c.656G>C
c.1846G>C (p.Ala616Pro)
n.2073G>C
c.1612G>C (p.Ala538Pro)
c.1849G>C (p.Ala617Pro)
15g.74180821C>TCA393128909STRA6c.1801G>A (p.Ala601Thr)
c.1777G>A (p.Ala593Thr)
c.1774G>A (p.Ala592Thr)
c.1912G>A (p.Ala638Thr)
n.1510G>A
c.1918G>A (p.Ala640Thr)
c.656G>A
c.1846G>A (p.Ala616Thr)
n.2073G>A
c.1612G>A (p.Ala538Thr)
c.1849G>A (p.Ala617Thr)
15g.74180822T>ACA491170478STRA6c.1800A>T (p.Ala600=)
c.1776A>T (p.Ala592=)
c.1773A>T (p.Ala591=)
c.1911A>T (p.Ala637=)
n.1509A>T
c.1917A>T (p.Ala639=)
c.655A>T
c.1845A>T (p.Ala615=)
n.2072A>T
c.1611A>T (p.Ala537=)
c.1848A>T (p.Ala616=)
15g.74180822T>CCA491170479STRA6c.1800A>G (p.Ala600=)
c.1776A>G (p.Ala592=)
c.1773A>G (p.Ala591=)
c.1911A>G (p.Ala637=)
n.1509A>G
c.1917A>G (p.Ala639=)
c.655A>G
c.1845A>G (p.Ala615=)
n.2072A>G
c.1611A>G (p.Ala537=)
c.1848A>G (p.Ala616=)
15g.74180822T>GCA491170480STRA6c.1800A>C (p.Ala600=)
c.1776A>C (p.Ala592=)
c.1773A>C (p.Ala591=)
c.1911A>C (p.Ala637=)
n.1509A>C
c.1917A>C (p.Ala639=)
c.655A>C
c.1845A>C (p.Ala615=)
n.2072A>C
c.1611A>C (p.Ala537=)
c.1848A>C (p.Ala616=)
15g.74180823G>ACA393128910STRA6c.1799C>T (p.Ala600Val)
c.1775C>T (p.Ala592Val)
c.1772C>T (p.Ala591Val)
c.1910C>T (p.Ala637Val)
n.1508C>T
c.1916C>T (p.Ala639Val)
c.654C>T
c.1844C>T (p.Ala615Val)
n.2071C>T
c.1610C>T (p.Ala537Val)
c.1847C>T (p.Ala616Val)
15g.74180823G>CCA393128912STRA6c.1799C>G (p.Ala600Gly)
c.1775C>G (p.Ala592Gly)
c.1772C>G (p.Ala591Gly)
c.1910C>G (p.Ala637Gly)
n.1508C>G
c.1916C>G (p.Ala639Gly)
c.654C>G
c.1844C>G (p.Ala615Gly)
n.2071C>G
c.1610C>G (p.Ala537Gly)
c.1847C>G (p.Ala616Gly)
15g.74180823G>TCA393128913STRA6c.1799C>A (p.Ala600Glu)
c.1775C>A (p.Ala592Glu)
c.1772C>A (p.Ala591Glu)
c.1910C>A (p.Ala637Glu)
n.1508C>A
c.1916C>A (p.Ala639Glu)
c.654C>A
c.1844C>A (p.Ala615Glu)
n.2071C>A
c.1610C>A (p.Ala537Glu)
c.1847C>A (p.Ala616Glu)
15g.74180824C>ACA393128918STRA6c.1798G>T (p.Ala600Ser)
c.1774G>T (p.Ala592Ser)
c.1771G>T (p.Ala591Ser)
c.1909G>T (p.Ala637Ser)
n.1507G>T
c.1915G>T (p.Ala639Ser)
c.653G>T
c.1843G>T (p.Ala615Ser)
n.2070G>T
c.1609G>T (p.Ala537Ser)
c.1846G>T (p.Ala616Ser)
15g.74180824C>GCA393128921STRA6c.1798G>C (p.Ala600Pro)
c.1774G>C (p.Ala592Pro)
c.1771G>C (p.Ala591Pro)
c.1909G>C (p.Ala637Pro)
n.1507G>C
c.1915G>C (p.Ala639Pro)
c.653G>C
c.1843G>C (p.Ala615Pro)
n.2070G>C
c.1609G>C (p.Ala537Pro)
c.1846G>C (p.Ala616Pro)
15g.74180824C>TCA393128916STRA6c.1798G>A (p.Ala600Thr)
c.1774G>A (p.Ala592Thr)
c.1771G>A (p.Ala591Thr)
c.1909G>A (p.Ala637Thr)
n.1507G>A
c.1915G>A (p.Ala639Thr)
c.653G>A
c.1843G>A (p.Ala615Thr)
n.2070G>A
c.1609G>A (p.Ala537Thr)
c.1846G>A (p.Ala616Thr)
15g.74180825C>ACA393128924STRA6c.1797G>T (p.Met599Ile)
c.1773G>T (p.Met591Ile)
c.1770G>T (p.Met590Ile)
c.1908G>T (p.Met636Ile)
n.1506G>T
c.1914G>T (p.Met638Ile)
c.652G>T
c.1842G>T (p.Met614Ile)
n.2069G>T
c.1608G>T (p.Met536Ile)
c.1845G>T (p.Met615Ile)
15g.74180825C=CA2187550051STRA6c.1797G= (p.Met599=)
c.1773G= (p.Met591=)
c.1770G= (p.Met590=)
c.1908G= (p.Met636=)
n.1506G=
c.1914G= (p.Met638=)
c.652G=
c.1842G= (p.Met614=)
n.2069G=
c.1608G= (p.Met536=)
c.1845G= (p.Met615=)
15g.74180825C>GCA393128926STRA6c.1797G>C (p.Met599Ile)
c.1773G>C (p.Met591Ile)
c.1770G>C (p.Met590Ile)
c.1908G>C (p.Met636Ile)
n.1506G>C
c.1914G>C (p.Met638Ile)
c.652G>C
c.1842G>C (p.Met614Ile)
n.2069G>C
c.1608G>C (p.Met536Ile)
c.1845G>C (p.Met615Ile)
 dbSNP gnomAD v2 gnomAD v4
15g.74180825C>TCA393128928STRA6c.1797G>A (p.Met599Ile)
c.1773G>A (p.Met591Ile)
c.1770G>A (p.Met590Ile)
c.1908G>A (p.Met636Ile)
n.1506G>A
c.1914G>A (p.Met638Ile)
c.652G>A
c.1842G>A (p.Met614Ile)
n.2069G>A
c.1608G>A (p.Met536Ile)
c.1845G>A (p.Met615Ile)
 COSMIC COSMIC
15g.74180826A=CA2187550052STRA6c.1796T= (p.Met599=)
c.1772T= (p.Met591=)
c.1769T= (p.Met590=)
c.1907T= (p.Met636=)
n.1505T=
c.1913T= (p.Met638=)
c.651T=
c.1841T= (p.Met614=)
n.2068T=
c.1607T= (p.Met536=)
c.1844T= (p.Met615=)
15g.74180826A>CCA393128931STRA6c.1796T>G (p.Met599Arg)
c.1772T>G (p.Met591Arg)
c.1769T>G (p.Met590Arg)
c.1907T>G (p.Met636Arg)
n.1505T>G
c.1913T>G (p.Met638Arg)
c.651T>G
c.1841T>G (p.Met614Arg)
n.2068T>G
c.1607T>G (p.Met536Arg)
c.1844T>G (p.Met615Arg)
15g.74180826A>GCA272746585STRA6c.1796T>C (p.Met599Thr)
c.1772T>C (p.Met591Thr)
c.1769T>C (p.Met590Thr)
c.1907T>C (p.Met636Thr)
n.1505T>C
c.1913T>C (p.Met638Thr)
c.651T>C
c.1841T>C (p.Met614Thr)
n.2068T>C
c.1607T>C (p.Met536Thr)
c.1844T>C (p.Met615Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74180826A>TCA393128934STRA6c.1796T>A (p.Met599Lys)
c.1772T>A (p.Met591Lys)
c.1769T>A (p.Met590Lys)
c.1907T>A (p.Met636Lys)
n.1505T>A
c.1913T>A (p.Met638Lys)
c.651T>A
c.1841T>A (p.Met614Lys)
n.2068T>A
c.1607T>A (p.Met536Lys)
c.1844T>A (p.Met615Lys)
15g.74180827T>ACA393128937STRA6c.1795A>T (p.Met599Leu)
c.1771A>T (p.Met591Leu)
c.1768A>T (p.Met590Leu)
c.1906A>T (p.Met636Leu)
n.1504A>T
c.1912A>T (p.Met638Leu)
c.650A>T
c.1840A>T (p.Met614Leu)
n.2067A>T
c.1606A>T (p.Met536Leu)
c.1843A>T (p.Met615Leu)
15g.74180827T>CCA7654440STRA6c.1795A>G (p.Met599Val)
c.1771A>G (p.Met591Val)
c.1768A>G (p.Met590Val)
c.1906A>G (p.Met636Val)
n.1504A>G
c.1912A>G (p.Met638Val)
c.650A>G
c.1840A>G (p.Met614Val)
n.2067A>G
c.1606A>G (p.Met536Val)
c.1843A>G (p.Met615Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180827T>GCA393128940STRA6c.1795A>C (p.Met599Leu)
c.1771A>C (p.Met591Leu)
c.1768A>C (p.Met590Leu)
c.1906A>C (p.Met636Leu)
n.1504A>C
c.1912A>C (p.Met638Leu)
c.650A>C
c.1840A>C (p.Met614Leu)
n.2067A>C
c.1606A>C (p.Met536Leu)
c.1843A>C (p.Met615Leu)
15g.74180827T=CA2187550053STRA6c.1795A= (p.Met599=)
c.1771A= (p.Met591=)
c.1768A= (p.Met590=)
c.1906A= (p.Met636=)
n.1504A=
c.1912A= (p.Met638=)
c.650A=
c.1840A= (p.Met614=)
n.2067A=
c.1606A= (p.Met536=)
c.1843A= (p.Met615=)
15g.74180828G>ACA491170486STRA6c.1794C>T (p.Thr598=)
c.1770C>T (p.Thr590=)
c.1767C>T (p.Thr589=)
c.1905C>T (p.Thr635=)
n.1503C>T
c.1911C>T (p.Thr637=)
c.649C>T
c.1839C>T (p.Thr613=)
n.2066C>T
c.1605C>T (p.Thr535=)
c.1842C>T (p.Thr614=)
15g.74180828G>CCA272746587STRA6c.1794C>G (p.Thr598=)
c.1770C>G (p.Thr590=)
c.1767C>G (p.Thr589=)
c.1905C>G (p.Thr635=)
n.1503C>G
c.1911C>G (p.Thr637=)
c.649C>G
c.1839C>G (p.Thr613=)
n.2066C>G
c.1605C>G (p.Thr535=)
c.1842C>G (p.Thr614=)
 dbSNP
15g.74180828G=CA2187550054STRA6c.1794C= (p.Thr598=)
c.1770C= (p.Thr590=)
c.1767C= (p.Thr589=)
c.1905C= (p.Thr635=)
n.1503C=
c.1911C= (p.Thr637=)
c.649C=
c.1839C= (p.Thr613=)
n.2066C=
c.1605C= (p.Thr535=)
c.1842C= (p.Thr614=)
15g.74180828G>TCA491170487STRA6c.1794C>A (p.Thr598=)
c.1770C>A (p.Thr590=)
c.1767C>A (p.Thr589=)
c.1905C>A (p.Thr635=)
n.1503C>A
c.1911C>A (p.Thr637=)
c.649C>A
c.1839C>A (p.Thr613=)
n.2066C>A
c.1605C>A (p.Thr535=)
c.1842C>A (p.Thr614=)
15g.74180829G>ACA393128945STRA6c.1793C>T (p.Thr598Ile)
c.1769C>T (p.Thr590Ile)
c.1766C>T (p.Thr589Ile)
c.1904C>T (p.Thr635Ile)
n.1502C>T
c.1910C>T (p.Thr637Ile)
c.648C>T
c.1838C>T (p.Thr613Ile)
n.2065C>T
c.1604C>T (p.Thr535Ile)
c.1841C>T (p.Thr614Ile)
 gnomAD v4
15g.74180829G>CCA393128948STRA6c.1793C>G (p.Thr598Ser)
c.1769C>G (p.Thr590Ser)
c.1766C>G (p.Thr589Ser)
c.1904C>G (p.Thr635Ser)
n.1502C>G
c.1910C>G (p.Thr637Ser)
c.648C>G
c.1838C>G (p.Thr613Ser)
n.2065C>G
c.1604C>G (p.Thr535Ser)
c.1841C>G (p.Thr614Ser)
15g.74180829G>TCA393128950STRA6c.1793C>A (p.Thr598Asn)
c.1769C>A (p.Thr590Asn)
c.1766C>A (p.Thr589Asn)
c.1904C>A (p.Thr635Asn)
n.1502C>A
c.1910C>A (p.Thr637Asn)
c.648C>A
c.1838C>A (p.Thr613Asn)
n.2065C>A
c.1604C>A (p.Thr535Asn)
c.1841C>A (p.Thr614Asn)
15g.74180830T>ACA393128958STRA6c.1792A>T (p.Thr598Ser)
c.1768A>T (p.Thr590Ser)
c.1765A>T (p.Thr589Ser)
c.1903A>T (p.Thr635Ser)
n.1501A>T
c.1909A>T (p.Thr637Ser)
c.647A>T
c.1837A>T (p.Thr613Ser)
n.2064A>T
c.1603A>T (p.Thr535Ser)
c.1840A>T (p.Thr614Ser)
15g.74180830T>CCA393128956STRA6c.1792A>G (p.Thr598Ala)
c.1768A>G (p.Thr590Ala)
c.1765A>G (p.Thr589Ala)
c.1903A>G (p.Thr635Ala)
n.1501A>G
c.1909A>G (p.Thr637Ala)
c.647A>G
c.1837A>G (p.Thr613Ala)
n.2064A>G
c.1603A>G (p.Thr535Ala)
c.1840A>G (p.Thr614Ala)
15g.74180830T>GCA393128953STRA6c.1792A>C (p.Thr598Pro)
c.1768A>C (p.Thr590Pro)
c.1765A>C (p.Thr589Pro)
c.1903A>C (p.Thr635Pro)
n.1501A>C
c.1909A>C (p.Thr637Pro)
c.647A>C
c.1837A>C (p.Thr613Pro)
n.2064A>C
c.1603A>C (p.Thr535Pro)
c.1840A>C (p.Thr614Pro)
15g.74180830_74180831delinsTCCA2187550055STRA6c.1791_1792delinsGA (p.Arg597=)
c.1767_1768delinsGA (p.Arg589=)
c.1764_1765delinsGA (p.Arg588=)
c.1902_1903delinsGA (p.Arg634=)
n.1500_1501delinsGA
c.1908_1909delinsGA (p.Arg636=)
c.646_647delinsGA
c.1836_1837delinsGA (p.Arg612=)
n.2063_2064delinsGA
c.1602_1603delinsGA (p.Arg534=)
c.1839_1840delinsGA (p.Arg613=)
15g.74180831C>ACA393128960STRA6c.1791G>T (p.Arg597Ser)
c.1767G>T (p.Arg589Ser)
c.1764G>T (p.Arg588Ser)
c.1902G>T (p.Arg634Ser)
n.1500G>T
c.1908G>T (p.Arg636Ser)
c.646G>T
c.1836G>T (p.Arg612Ser)
n.2063G>T
c.1602G>T (p.Arg534Ser)
c.1839G>T (p.Arg613Ser)
15g.74180831C>GCA393128961STRA6c.1791G>C (p.Arg597Ser)
c.1767G>C (p.Arg589Ser)
c.1764G>C (p.Arg588Ser)
c.1902G>C (p.Arg634Ser)
n.1500G>C
c.1908G>C (p.Arg636Ser)
c.646G>C
c.1836G>C (p.Arg612Ser)
n.2063G>C
c.1602G>C (p.Arg534Ser)
c.1839G>C (p.Arg613Ser)
15g.74180831C>TCA491170488STRA6c.1791G>A (p.Arg597=)
c.1767G>A (p.Arg589=)
c.1764G>A (p.Arg588=)
c.1902G>A (p.Arg634=)
n.1500G>A
c.1908G>A (p.Arg636=)
c.646G>A
c.1836G>A (p.Arg612=)
n.2063G>A
c.1602G>A (p.Arg534=)
c.1839G>A (p.Arg613=)
15g.74180832delCA971474207STRA6c.1791del (p.Thr598ProfsTer?)
c.1767del (p.Thr590ProfsTer?)
c.1764del (p.Thr589ProfsTer?)
c.1902del (p.Thr635ProfsTer?)
n.1500del
c.1908del (p.Thr637ProfsTer?)
c.646del
c.1836del (p.Thr613ProfsTer?)
n.2063del
c.1602del (p.Thr535ProfsTer?)
c.1839del (p.Thr614ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
15g.74180832C>ACA393128965STRA6c.1790G>T (p.Arg597Met)
c.1766G>T (p.Arg589Met)
c.1763G>T (p.Arg588Met)
c.1901G>T (p.Arg634Met)
n.1499G>T
c.1907G>T (p.Arg636Met)
c.645G>T
c.1835G>T (p.Arg612Met)
n.2062G>T
c.1601G>T (p.Arg534Met)
c.1838G>T (p.Arg613Met)
15g.74180832C>GCA393128966STRA6c.1790G>C (p.Arg597Thr)
c.1766G>C (p.Arg589Thr)
c.1763G>C (p.Arg588Thr)
c.1901G>C (p.Arg634Thr)
n.1499G>C
c.1907G>C (p.Arg636Thr)
c.645G>C
c.1835G>C (p.Arg612Thr)
n.2062G>C
c.1601G>C (p.Arg534Thr)
c.1838G>C (p.Arg613Thr)
15g.74180832C>TCA393128968STRA6c.1790G>A (p.Arg597Lys)
c.1766G>A (p.Arg589Lys)
c.1763G>A (p.Arg588Lys)
c.1901G>A (p.Arg634Lys)
n.1499G>A
c.1907G>A (p.Arg636Lys)
c.645G>A
c.1835G>A (p.Arg612Lys)
n.2062G>A
c.1601G>A (p.Arg534Lys)
c.1838G>A (p.Arg613Lys)
15g.74180833T>ACA393128969STRA6c.1789A>T (p.Arg597Trp)
c.1765A>T (p.Arg589Trp)
c.1762A>T (p.Arg588Trp)
c.1900A>T (p.Arg634Trp)
n.1498A>T
c.1906A>T (p.Arg636Trp)
c.644A>T
c.1834A>T (p.Arg612Trp)
n.2061A>T
c.1600A>T (p.Arg534Trp)
c.1837A>T (p.Arg613Trp)
15g.74180833T>CCA393128971STRA6c.1789A>G (p.Arg597Gly)
c.1765A>G (p.Arg589Gly)
c.1762A>G (p.Arg588Gly)
c.1900A>G (p.Arg634Gly)
n.1498A>G
c.1906A>G (p.Arg636Gly)
c.644A>G
c.1834A>G (p.Arg612Gly)
n.2061A>G
c.1600A>G (p.Arg534Gly)
c.1837A>G (p.Arg613Gly)
15g.74180833T>GCA491170490STRA6c.1789A>C (p.Arg597=)
c.1765A>C (p.Arg589=)
c.1762A>C (p.Arg588=)
c.1900A>C (p.Arg634=)
n.1498A>C
c.1906A>C (p.Arg636=)
c.644A>C
c.1834A>C (p.Arg612=)
n.2061A>C
c.1600A>C (p.Arg534=)
c.1837A>C (p.Arg613=)
15g.74180834G>ACA491170492STRA6c.1788C>T (p.Pro596=)
c.1764C>T (p.Pro588=)
c.1761C>T (p.Pro587=)
c.1899C>T (p.Pro633=)
n.1497C>T
c.1905C>T (p.Pro635=)
c.643C>T
c.1833C>T (p.Pro611=)
n.2060C>T
c.1599C>T (p.Pro533=)
c.1836C>T (p.Pro612=)
15g.74180834G>CCA7654441STRA6c.1788C>G (p.Pro596=)
c.1764C>G (p.Pro588=)
c.1761C>G (p.Pro587=)
c.1899C>G (p.Pro633=)
n.1497C>G
c.1905C>G (p.Pro635=)
c.643C>G
c.1833C>G (p.Pro611=)
n.2060C>G
c.1599C>G (p.Pro533=)
c.1836C>G (p.Pro612=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180834G=CA2187550056STRA6c.1788C= (p.Pro596=)
c.1764C= (p.Pro588=)
c.1761C= (p.Pro587=)
c.1899C= (p.Pro633=)
n.1497C=
c.1905C= (p.Pro635=)
c.643C=
c.1833C= (p.Pro611=)
n.2060C=
c.1599C= (p.Pro533=)
c.1836C= (p.Pro612=)
15g.74180834G>TCA491170491STRA6c.1788C>A (p.Pro596=)
c.1764C>A (p.Pro588=)
c.1761C>A (p.Pro587=)
c.1899C>A (p.Pro633=)
n.1497C>A
c.1905C>A (p.Pro635=)
c.643C>A
c.1833C>A (p.Pro611=)
n.2060C>A
c.1599C>A (p.Pro533=)
c.1836C>A (p.Pro612=)
15g.74180835G>ACA393128976STRA6c.1787C>T (p.Pro596Leu)
c.1763C>T (p.Pro588Leu)
c.1760C>T (p.Pro587Leu)
c.1898C>T (p.Pro633Leu)
n.1496C>T
c.1904C>T (p.Pro635Leu)
c.642C>T
c.1832C>T (p.Pro611Leu)
n.2059C>T
c.1598C>T (p.Pro533Leu)
c.1835C>T (p.Pro612Leu)
15g.74180835G>CCA393128977STRA6c.1787C>G (p.Pro596Arg)
c.1763C>G (p.Pro588Arg)
c.1760C>G (p.Pro587Arg)
c.1898C>G (p.Pro633Arg)
n.1496C>G
c.1904C>G (p.Pro635Arg)
c.642C>G
c.1832C>G (p.Pro611Arg)
n.2059C>G
c.1598C>G (p.Pro533Arg)
c.1835C>G (p.Pro612Arg)
15g.74180835G>TCA393128979STRA6c.1787C>A (p.Pro596His)
c.1763C>A (p.Pro588His)
c.1760C>A (p.Pro587His)
c.1898C>A (p.Pro633His)
n.1496C>A
c.1904C>A (p.Pro635His)
c.642C>A
c.1832C>A (p.Pro611His)
n.2059C>A
c.1598C>A (p.Pro533His)
c.1835C>A (p.Pro612His)
15g.74180836G>ACA393128981STRA6c.1786C>T (p.Pro596Ser)
c.1762C>T (p.Pro588Ser)
c.1759C>T (p.Pro587Ser)
c.1897C>T (p.Pro633Ser)
n.1495C>T
c.1903C>T (p.Pro635Ser)
c.641C>T
c.1831C>T (p.Pro611Ser)
n.2058C>T
c.1597C>T (p.Pro533Ser)
c.1834C>T (p.Pro612Ser)
15g.74180836G>CCA393128983STRA6c.1786C>G (p.Pro596Ala)
c.1762C>G (p.Pro588Ala)
c.1759C>G (p.Pro587Ala)
c.1897C>G (p.Pro633Ala)
n.1495C>G
c.1903C>G (p.Pro635Ala)
c.641C>G
c.1831C>G (p.Pro611Ala)
n.2058C>G
c.1597C>G (p.Pro533Ala)
c.1834C>G (p.Pro612Ala)
15g.74180836G>TCA393128985STRA6c.1786C>A (p.Pro596Thr)
c.1762C>A (p.Pro588Thr)
c.1759C>A (p.Pro587Thr)
c.1897C>A (p.Pro633Thr)
n.1495C>A
c.1903C>A (p.Pro635Thr)
c.641C>A
c.1831C>A (p.Pro611Thr)
n.2058C>A
c.1597C>A (p.Pro533Thr)
c.1834C>A (p.Pro612Thr)
 gnomAD v4
15g.74180837T>ACA491170496STRA6c.1785A>T (p.Leu595=)
c.1761A>T (p.Leu587=)
c.1758A>T (p.Leu586=)
c.1896A>T (p.Leu632=)
n.1494A>T
c.1902A>T (p.Leu634=)
c.640A>T
c.1830A>T (p.Leu610=)
n.2057A>T
c.1596A>T (p.Leu532=)
c.1833A>T (p.Leu611=)
15g.74180837T>CCA491170495STRA6c.1785A>G (p.Leu595=)
c.1761A>G (p.Leu587=)
c.1758A>G (p.Leu586=)
c.1896A>G (p.Leu632=)
n.1494A>G
c.1902A>G (p.Leu634=)
c.640A>G
c.1830A>G (p.Leu610=)
n.2057A>G
c.1596A>G (p.Leu532=)
c.1833A>G (p.Leu611=)
15g.74180837T>GCA491170494STRA6c.1785A>C (p.Leu595=)
c.1761A>C (p.Leu587=)
c.1758A>C (p.Leu586=)
c.1896A>C (p.Leu632=)
n.1494A>C
c.1902A>C (p.Leu634=)
c.640A>C
c.1830A>C (p.Leu610=)
n.2057A>C
c.1596A>C (p.Leu532=)
c.1833A>C (p.Leu611=)
 gnomAD v4
15g.74180838A>CCA393128988STRA6c.1784T>G (p.Leu595Arg)
c.1760T>G (p.Leu587Arg)
c.1757T>G (p.Leu586Arg)
c.1895T>G (p.Leu632Arg)
n.1493T>G
c.1901T>G (p.Leu634Arg)
c.639T>G
c.1829T>G (p.Leu610Arg)
n.2056T>G
c.1595T>G (p.Leu532Arg)
c.1832T>G (p.Leu611Arg)
15g.74180838A>GCA393128989STRA6c.1784T>C (p.Leu595Pro)
c.1760T>C (p.Leu587Pro)
c.1757T>C (p.Leu586Pro)
c.1895T>C (p.Leu632Pro)
n.1493T>C
c.1901T>C (p.Leu634Pro)
c.639T>C
c.1829T>C (p.Leu610Pro)
n.2056T>C
c.1595T>C (p.Leu532Pro)
c.1832T>C (p.Leu611Pro)
15g.74180838A>TCA393128987STRA6c.1784T>A (p.Leu595Gln)
c.1760T>A (p.Leu587Gln)
c.1757T>A (p.Leu586Gln)
c.1895T>A (p.Leu632Gln)
n.1493T>A
c.1901T>A (p.Leu634Gln)
c.639T>A
c.1829T>A (p.Leu610Gln)
n.2056T>A
c.1595T>A (p.Leu532Gln)
c.1832T>A (p.Leu611Gln)
15g.74180839G>ACA491170498STRA6c.1783C>T (p.Leu595=)
c.1759C>T (p.Leu587=)
c.1756C>T (p.Leu586=)
c.1894C>T (p.Leu632=)
n.1492C>T
c.1900C>T (p.Leu634=)
c.638C>T
c.1828C>T (p.Leu610=)
n.2055C>T
c.1594C>T (p.Leu532=)
c.1831C>T (p.Leu611=)
 dbSNP gnomAD v2
15g.74180839G>CCA393128992STRA6c.1783C>G (p.Leu595Val)
c.1759C>G (p.Leu587Val)
c.1756C>G (p.Leu586Val)
c.1894C>G (p.Leu632Val)
n.1492C>G
c.1900C>G (p.Leu634Val)
c.638C>G
c.1828C>G (p.Leu610Val)
n.2055C>G
c.1594C>G (p.Leu532Val)
c.1831C>G (p.Leu611Val)
15g.74180839G=CA2187550057STRA6c.1783C= (p.Leu595=)
c.1759C= (p.Leu587=)
c.1756C= (p.Leu586=)
c.1894C= (p.Leu632=)
n.1492C=
c.1900C= (p.Leu634=)
c.638C=
c.1828C= (p.Leu610=)
n.2055C=
c.1594C= (p.Leu532=)
c.1831C= (p.Leu611=)
15g.74180839G>TCA393128993STRA6c.1783C>A (p.Leu595Ile)
c.1759C>A (p.Leu587Ile)
c.1756C>A (p.Leu586Ile)
c.1894C>A (p.Leu632Ile)
n.1492C>A
c.1900C>A (p.Leu634Ile)
c.638C>A
c.1828C>A (p.Leu610Ile)
n.2055C>A
c.1594C>A (p.Leu532Ile)
c.1831C>A (p.Leu611Ile)
 dbSNP
15g.74180840G>ACA491170500STRA6c.1782C>T (p.Leu594=)
c.1758C>T (p.Leu586=)
c.1755C>T (p.Leu585=)
c.1893C>T (p.Leu631=)
n.1491C>T
c.1899C>T (p.Leu633=)
c.637C>T
c.1827C>T (p.Leu609=)
n.2054C>T
c.1593C>T (p.Leu531=)
c.1830C>T (p.Leu610=)
15g.74180840G>CCA491170504STRA6c.1782C>G (p.Leu594=)
c.1758C>G (p.Leu586=)
c.1755C>G (p.Leu585=)
c.1893C>G (p.Leu631=)
n.1491C>G
c.1899C>G (p.Leu633=)
c.637C>G
c.1827C>G (p.Leu609=)
n.2054C>G
c.1593C>G (p.Leu531=)
c.1830C>G (p.Leu610=)
15g.74180840G>TCA491170502STRA6c.1782C>A (p.Leu594=)
c.1758C>A (p.Leu586=)
c.1755C>A (p.Leu585=)
c.1893C>A (p.Leu631=)
n.1491C>A
c.1899C>A (p.Leu633=)
c.637C>A
c.1827C>A (p.Leu609=)
n.2054C>A
c.1593C>A (p.Leu531=)
c.1830C>A (p.Leu610=)
15g.74180841A>CCA393128995STRA6c.1781T>G (p.Leu594Arg)
c.1757T>G (p.Leu586Arg)
c.1754T>G (p.Leu585Arg)
c.1892T>G (p.Leu631Arg)
n.1490T>G
c.1898T>G (p.Leu633Arg)
c.636T>G
c.1826T>G (p.Leu609Arg)
n.2053T>G
c.1592T>G (p.Leu531Arg)
c.1829T>G (p.Leu610Arg)
15g.74180841A>GCA393128997STRA6c.1781T>C (p.Leu594Pro)
c.1757T>C (p.Leu586Pro)
c.1754T>C (p.Leu585Pro)
c.1892T>C (p.Leu631Pro)
n.1490T>C
c.1898T>C (p.Leu633Pro)
c.636T>C
c.1826T>C (p.Leu609Pro)
n.2053T>C
c.1592T>C (p.Leu531Pro)
c.1829T>C (p.Leu610Pro)
15g.74180841A>TCA393128999STRA6c.1781T>A (p.Leu594His)
c.1757T>A (p.Leu586His)
c.1754T>A (p.Leu585His)
c.1892T>A (p.Leu631His)
n.1490T>A
c.1898T>A (p.Leu633His)
c.636T>A
c.1826T>A (p.Leu609His)
n.2053T>A
c.1592T>A (p.Leu531His)
c.1829T>A (p.Leu610His)
15g.74180842G>ACA393129007STRA6c.1780C>T (p.Leu594Phe)
c.1756C>T (p.Leu586Phe)
c.1753C>T (p.Leu585Phe)
c.1891C>T (p.Leu631Phe)
n.1489C>T
c.1897C>T (p.Leu633Phe)
c.635C>T
c.1825C>T (p.Leu609Phe)
n.2052C>T
c.1591C>T (p.Leu531Phe)
c.1828C>T (p.Leu610Phe)
15g.74180842G>CCA393129005STRA6c.1780C>G (p.Leu594Val)
c.1756C>G (p.Leu586Val)
c.1753C>G (p.Leu585Val)
c.1891C>G (p.Leu631Val)
n.1489C>G
c.1897C>G (p.Leu633Val)
c.635C>G
c.1825C>G (p.Leu609Val)
n.2052C>G
c.1591C>G (p.Leu531Val)
c.1828C>G (p.Leu610Val)
15g.74180842G>TCA393129002STRA6c.1780C>A (p.Leu594Ile)
c.1756C>A (p.Leu586Ile)
c.1753C>A (p.Leu585Ile)
c.1891C>A (p.Leu631Ile)
n.1489C>A
c.1897C>A (p.Leu633Ile)
c.635C>A
c.1825C>A (p.Leu609Ile)
n.2052C>A
c.1591C>A (p.Leu531Ile)
c.1828C>A (p.Leu610Ile)
15g.74180843G>ACA7654442STRA6c.1779C>T (p.Ser593=)
c.1755C>T (p.Ser585=)
c.1752C>T (p.Ser584=)
c.1890C>T (p.Ser630=)
n.1488C>T
c.1896C>T (p.Ser632=)
c.634C>T
c.1824C>T (p.Ser608=)
n.2051C>T
c.1590C>T (p.Ser530=)
c.1827C>T (p.Ser609=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.74180843G>CCA393129011STRA6c.1779C>G (p.Ser593Arg)
c.1755C>G (p.Ser585Arg)
c.1752C>G (p.Ser584Arg)
c.1890C>G (p.Ser630Arg)
n.1488C>G
c.1896C>G (p.Ser632Arg)
c.634C>G
c.1824C>G (p.Ser608Arg)
n.2051C>G
c.1590C>G (p.Ser530Arg)
c.1827C>G (p.Ser609Arg)
15g.74180843G=CA2187550058STRA6c.1779C= (p.Ser593=)
c.1755C= (p.Ser585=)
c.1752C= (p.Ser584=)
c.1890C= (p.Ser630=)
n.1488C=
c.1896C= (p.Ser632=)
c.634C=
c.1824C= (p.Ser608=)
n.2051C=
c.1590C= (p.Ser530=)
c.1827C= (p.Ser609=)
15g.74180843G>TCA393129013STRA6c.1779C>A (p.Ser593Arg)
c.1755C>A (p.Ser585Arg)
c.1752C>A (p.Ser584Arg)
c.1890C>A (p.Ser630Arg)
n.1488C>A
c.1896C>A (p.Ser632Arg)
c.634C>A
c.1824C>A (p.Ser608Arg)
n.2051C>A
c.1590C>A (p.Ser530Arg)
c.1827C>A (p.Ser609Arg)
15g.74180844C>ACA393129016STRA6c.1778G>T (p.Ser593Ile)
c.1754G>T (p.Ser585Ile)
c.1751G>T (p.Ser584Ile)
c.1889G>T (p.Ser630Ile)
n.1487G>T
c.1895G>T (p.Ser632Ile)
c.633G>T
c.1823G>T (p.Ser608Ile)
n.2050G>T
c.1589G>T (p.Ser530Ile)
c.1826G>T (p.Ser609Ile)
15g.74180844C>GCA393129018STRA6c.1778G>C (p.Ser593Thr)
c.1754G>C (p.Ser585Thr)
c.1751G>C (p.Ser584Thr)
c.1889G>C (p.Ser630Thr)
n.1487G>C
c.1895G>C (p.Ser632Thr)
c.633G>C
c.1823G>C (p.Ser608Thr)
n.2050G>C
c.1589G>C (p.Ser530Thr)
c.1826G>C (p.Ser609Thr)
15g.74180844C>TCA393129020STRA6c.1778G>A (p.Ser593Asn)
c.1754G>A (p.Ser585Asn)
c.1751G>A (p.Ser584Asn)
c.1889G>A (p.Ser630Asn)
n.1487G>A
c.1895G>A (p.Ser632Asn)
c.633G>A
c.1823G>A (p.Ser608Asn)
n.2050G>A
c.1589G>A (p.Ser530Asn)
c.1826G>A (p.Ser609Asn)
15g.74180845T>ACA393129023STRA6c.1777A>T (p.Ser593Cys)
c.1753A>T (p.Ser585Cys)
c.1750A>T (p.Ser584Cys)
c.1888A>T (p.Ser630Cys)
n.1486A>T
c.1894A>T (p.Ser632Cys)
c.632A>T
c.1822A>T (p.Ser608Cys)
n.2049A>T
c.1588A>T (p.Ser530Cys)
c.1825A>T (p.Ser609Cys)
15g.74180845T>CCA393129028STRA6c.1777A>G (p.Ser593Gly)
c.1753A>G (p.Ser585Gly)
c.1750A>G (p.Ser584Gly)
c.1888A>G (p.Ser630Gly)
n.1486A>G
c.1894A>G (p.Ser632Gly)
c.632A>G
c.1822A>G (p.Ser608Gly)
n.2049A>G
c.1588A>G (p.Ser530Gly)
c.1825A>G (p.Ser609Gly)
 dbSNP gnomAD v2 gnomAD v4
15g.74180845T>GCA393129026STRA6c.1777A>C (p.Ser593Arg)
c.1753A>C (p.Ser585Arg)
c.1750A>C (p.Ser584Arg)
c.1888A>C (p.Ser630Arg)
n.1486A>C
c.1894A>C (p.Ser632Arg)
c.632A>C
c.1822A>C (p.Ser608Arg)
n.2049A>C
c.1588A>C (p.Ser530Arg)
c.1825A>C (p.Ser609Arg)
15g.74180845T=CA2187550059STRA6c.1777A= (p.Ser593=)
c.1753A= (p.Ser585=)
c.1750A= (p.Ser584=)
c.1888A= (p.Ser630=)
n.1486A=
c.1894A= (p.Ser632=)
c.632A=
c.1822A= (p.Ser608=)
n.2049A=
c.1588A= (p.Ser530=)
c.1825A= (p.Ser609=)
15g.74180846C>ACA393129030STRA6c.1776G>T (p.Gln592His)
c.1752G>T (p.Gln584His)
c.1749G>T (p.Gln583His)
c.1887G>T (p.Gln629His)
n.1485G>T
c.1893G>T (p.Gln631His)
c.631G>T
c.1821G>T (p.Gln607His)
n.2048G>T
c.1587G>T (p.Gln529His)
c.1824G>T (p.Gln608His)
15g.74180846C>GCA393129032STRA6c.1776G>C (p.Gln592His)
c.1752G>C (p.Gln584His)
c.1749G>C (p.Gln583His)
c.1887G>C (p.Gln629His)
n.1485G>C
c.1893G>C (p.Gln631His)
c.631G>C
c.1821G>C (p.Gln607His)
n.2048G>C
c.1587G>C (p.Gln529His)
c.1824G>C (p.Gln608His)
15g.74180846C>TCA491170510STRA6c.1776G>A (p.Gln592=)
c.1752G>A (p.Gln584=)
c.1749G>A (p.Gln583=)
c.1887G>A (p.Gln629=)
n.1485G>A
c.1893G>A (p.Gln631=)
c.631G>A
c.1821G>A (p.Gln607=)
n.2048G>A
c.1587G>A (p.Gln529=)
c.1824G>A (p.Gln608=)
15g.74180847T>ACA393129035STRA6c.1775A>T (p.Gln592Leu)
c.1751A>T (p.Gln584Leu)
c.1748A>T (p.Gln583Leu)
c.1886A>T (p.Gln629Leu)
n.1484A>T
c.1892A>T (p.Gln631Leu)
c.630A>T
c.1820A>T (p.Gln607Leu)
n.2047A>T
c.1586A>T (p.Gln529Leu)
c.1823A>T (p.Gln608Leu)
15g.74180847T>CCA393129038STRA6c.1775A>G (p.Gln592Arg)
c.1751A>G (p.Gln584Arg)
c.1748A>G (p.Gln583Arg)
c.1886A>G (p.Gln629Arg)
n.1484A>G
c.1892A>G (p.Gln631Arg)
c.630A>G
c.1820A>G (p.Gln607Arg)
n.2047A>G
c.1586A>G (p.Gln529Arg)
c.1823A>G (p.Gln608Arg)
 dbSNP gnomAD v2 gnomAD v4
15g.74180847T>GCA393129040STRA6c.1775A>C (p.Gln592Pro)
c.1751A>C (p.Gln584Pro)
c.1748A>C (p.Gln583Pro)
c.1886A>C (p.Gln629Pro)
n.1484A>C
c.1892A>C (p.Gln631Pro)
c.630A>C
c.1820A>C (p.Gln607Pro)
n.2047A>C
c.1586A>C (p.Gln529Pro)
c.1823A>C (p.Gln608Pro)
15g.74180847T=CA2187550060STRA6c.1775A= (p.Gln592=)
c.1751A= (p.Gln584=)
c.1748A= (p.Gln583=)
c.1886A= (p.Gln629=)
n.1484A=
c.1892A= (p.Gln631=)
c.630A=
c.1820A= (p.Gln607=)
n.2047A=
c.1586A= (p.Gln529=)
c.1823A= (p.Gln608=)
15g.74180848G>ACA393129042STRA6c.1774C>T (p.Gln592Ter)
c.1750C>T (p.Gln584Ter)
c.1747C>T (p.Gln583Ter)
c.1885C>T (p.Gln629Ter)
n.1483C>T
c.1891C>T (p.Gln631Ter)
c.629C>T
c.1819C>T (p.Gln607Ter)
n.2046C>T
c.1585C>T (p.Gln529Ter)
c.1822C>T (p.Gln608Ter)
 dbSNP gnomAD v4
15g.74180848G>CCA393129044STRA6c.1774C>G (p.Gln592Glu)
c.1750C>G (p.Gln584Glu)
c.1747C>G (p.Gln583Glu)
c.1885C>G (p.Gln629Glu)
n.1483C>G
c.1891C>G (p.Gln631Glu)
c.629C>G
c.1819C>G (p.Gln607Glu)
n.2046C>G
c.1585C>G (p.Gln529Glu)
c.1822C>G (p.Gln608Glu)
15g.74180848G=CA2187550061STRA6c.1774C= (p.Gln592=)
c.1750C= (p.Gln584=)
c.1747C= (p.Gln583=)
c.1885C= (p.Gln629=)
n.1483C=
c.1891C= (p.Gln631=)
c.629C=
c.1819C= (p.Gln607=)
n.2046C=
c.1585C= (p.Gln529=)
c.1822C= (p.Gln608=)
15g.74180848G>TCA393129046STRA6c.1774C>A (p.Gln592Lys)
c.1750C>A (p.Gln584Lys)
c.1747C>A (p.Gln583Lys)
c.1885C>A (p.Gln629Lys)
n.1483C>A
c.1891C>A (p.Gln631Lys)
c.629C>A
c.1819C>A (p.Gln607Lys)
n.2046C>A
c.1585C>A (p.Gln529Lys)
c.1822C>A (p.Gln608Lys)
15g.74180849C>ACA7654443STRA6c.1773G>T (p.Ala591=)
c.1749G>T (p.Ala583=)
c.1746G>T (p.Ala582=)
c.1884G>T (p.Ala628=)
n.1482G>T
c.1890G>T (p.Ala630=)
c.628G>T
c.1818G>T (p.Ala606=)
n.2045G>T
c.1584G>T (p.Ala528=)
c.1821G>T (p.Ala607=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180849C=CA2187550062STRA6c.1773G= (p.Ala591=)
c.1749G= (p.Ala583=)
c.1746G= (p.Ala582=)
c.1884G= (p.Ala628=)
n.1482G=
c.1890G= (p.Ala630=)
c.628G=
c.1818G= (p.Ala606=)
n.2045G=
c.1584G= (p.Ala528=)
c.1821G= (p.Ala607=)
15g.74180849C>GCA491170516STRA6c.1773G>C (p.Ala591=)
c.1749G>C (p.Ala583=)
c.1746G>C (p.Ala582=)
c.1884G>C (p.Ala628=)
n.1482G>C
c.1890G>C (p.Ala630=)
c.628G>C
c.1818G>C (p.Ala606=)
n.2045G>C
c.1584G>C (p.Ala528=)
c.1821G>C (p.Ala607=)
15g.74180849C>TCA7654444STRA6c.1773G>A (p.Ala591=)
c.1749G>A (p.Ala583=)
c.1746G>A (p.Ala582=)
c.1884G>A (p.Ala628=)
n.1482G>A
c.1890G>A (p.Ala630=)
c.628G>A
c.1818G>A (p.Ala606=)
n.2045G>A
c.1584G>A (p.Ala528=)
c.1821G>A (p.Ala607=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74180850G>ACA7654445STRA6c.1772C>T (p.Ala591Val)
c.1748C>T (p.Ala583Val)
c.1745C>T (p.Ala582Val)
c.1883C>T (p.Ala628Val)
n.1481C>T
c.1889C>T (p.Ala630Val)
c.627C>T
c.1817C>T (p.Ala606Val)
n.2044C>T
c.1583C>T (p.Ala528Val)
c.1820C>T (p.Ala607Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.74180850G>CCA393129053STRA6c.1772C>G (p.Ala591Gly)
c.1748C>G (p.Ala583Gly)
c.1745C>G (p.Ala582Gly)
c.1883C>G (p.Ala628Gly)
n.1481C>G
c.1889C>G (p.Ala630Gly)
c.627C>G
c.1817C>G (p.Ala606Gly)
n.2044C>G
c.1583C>G (p.Ala528Gly)
c.1820C>G (p.Ala607Gly)
15g.74180850G=CA2187550063STRA6c.1772C= (p.Ala591=)
c.1748C= (p.Ala583=)
c.1745C= (p.Ala582=)
c.1883C= (p.Ala628=)
n.1481C=
c.1889C= (p.Ala630=)
c.627C=
c.1817C= (p.Ala606=)
n.2044C=
c.1583C= (p.Ala528=)
c.1820C= (p.Ala607=)
15g.74180850G>TCA393129055STRA6c.1772C>A (p.Ala591Glu)
c.1748C>A (p.Ala583Glu)
c.1745C>A (p.Ala582Glu)
c.1883C>A (p.Ala628Glu)
n.1481C>A
c.1889C>A (p.Ala630Glu)
c.627C>A
c.1817C>A (p.Ala606Glu)
n.2044C>A
c.1583C>A (p.Ala528Glu)
c.1820C>A (p.Ala607Glu)
15g.74180851C>ACA393129060STRA6c.1771G>T (p.Ala591Ser)
c.1747G>T (p.Ala583Ser)
c.1744G>T (p.Ala582Ser)
c.1882G>T (p.Ala628Ser)
n.1480G>T
c.1888G>T (p.Ala630Ser)
c.626G>T
c.1816G>T (p.Ala606Ser)
n.2043G>T
c.1582G>T (p.Ala528Ser)
c.1819G>T (p.Ala607Ser)
15g.74180851C=CA2187550064STRA6c.1771G= (p.Ala591=)
c.1747G= (p.Ala583=)
c.1744G= (p.Ala582=)
c.1882G= (p.Ala628=)
n.1480G=
c.1888G= (p.Ala630=)
c.626G=
c.1816G= (p.Ala606=)
n.2043G=
c.1582G= (p.Ala528=)
c.1819G= (p.Ala607=)
15g.74180851C>GCA393129063STRA6c.1771G>C (p.Ala591Pro)
c.1747G>C (p.Ala583Pro)
c.1744G>C (p.Ala582Pro)
c.1882G>C (p.Ala628Pro)
n.1480G>C
c.1888G>C (p.Ala630Pro)
c.626G>C
c.1816G>C (p.Ala606Pro)
n.2043G>C
c.1582G>C (p.Ala528Pro)
c.1819G>C (p.Ala607Pro)
15g.74180851C>TCA7654446STRA6c.1771G>A (p.Ala591Thr)
c.1747G>A (p.Ala583Thr)
c.1744G>A (p.Ala582Thr)
c.1882G>A (p.Ala628Thr)
n.1480G>A
c.1888G>A (p.Ala630Thr)
c.626G>A
c.1816G>A (p.Ala606Thr)
n.2043G>A
c.1582G>A (p.Ala528Thr)
c.1819G>A (p.Ala607Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.74180852T>ACA393129065STRA6c.1770A>T (p.Gln590His)
c.1746A>T (p.Gln582His)
c.1743A>T (p.Gln581His)
c.1881A>T (p.Gln627His)
n.1479A>T
c.1887A>T (p.Gln629His)
c.625A>T
c.1815A>T (p.Gln605His)
n.2042A>T
c.1581A>T (p.Gln527His)
c.1818A>T (p.Gln606His)
15g.74180852T>CCA491170518STRA6c.1770A>G (p.Gln590=)
c.1746A>G (p.Gln582=)
c.1743A>G (p.Gln581=)
c.1881A>G (p.Gln627=)
n.1479A>G
c.1887A>G (p.Gln629=)
c.625A>G
c.1815A>G (p.Gln605=)
n.2042A>G
c.1581A>G (p.Gln527=)
c.1818A>G (p.Gln606=)
15g.74180852T>GCA393129067STRA6c.1770A>C (p.Gln590His)
c.1746A>C (p.Gln582His)
c.1743A>C (p.Gln581His)
c.1881A>C (p.Gln627His)
n.1479A>C
c.1887A>C (p.Gln629His)
c.625A>C
c.1815A>C (p.Gln605His)
n.2042A>C
c.1581A>C (p.Gln527His)
c.1818A>C (p.Gln606His)
15g.74180853T>ACA393129070STRA6c.1769A>T (p.Gln590Leu)
c.1745A>T (p.Gln582Leu)
c.1742A>T (p.Gln581Leu)
c.1880A>T (p.Gln627Leu)
n.1478A>T
c.1886A>T (p.Gln629Leu)
c.624A>T
c.1814A>T (p.Gln605Leu)
n.2041A>T
c.1580A>T (p.Gln527Leu)
c.1817A>T (p.Gln606Leu)
15g.74180853T>CCA393129074STRA6c.1769A>G (p.Gln590Arg)
c.1745A>G (p.Gln582Arg)
c.1742A>G (p.Gln581Arg)
c.1880A>G (p.Gln627Arg)
n.1478A>G
c.1886A>G (p.Gln629Arg)
c.624A>G
c.1814A>G (p.Gln605Arg)
n.2041A>G
c.1580A>G (p.Gln527Arg)
c.1817A>G (p.Gln606Arg)
15g.74180853T>GCA393129072STRA6c.1769A>C (p.Gln590Pro)
c.1745A>C (p.Gln582Pro)
c.1742A>C (p.Gln581Pro)
c.1880A>C (p.Gln627Pro)
n.1478A>C
c.1886A>C (p.Gln629Pro)
c.624A>C
c.1814A>C (p.Gln605Pro)
n.2041A>C
c.1580A>C (p.Gln527Pro)
c.1817A>C (p.Gln606Pro)
15g.74180854G>ACA393129077STRA6c.1768C>T (p.Gln590Ter)
c.1744C>T (p.Gln582Ter)
c.1741C>T (p.Gln581Ter)
c.1879C>T (p.Gln627Ter)
n.1477C>T
c.1885C>T (p.Gln629Ter)
c.623C>T
c.1813C>T (p.Gln605Ter)
n.2040C>T
c.1579C>T (p.Gln527Ter)
c.1816C>T (p.Gln606Ter)
15g.74180854G>CCA393129081STRA6c.1768C>G (p.Gln590Glu)
c.1744C>G (p.Gln582Glu)
c.1741C>G (p.Gln581Glu)
c.1879C>G (p.Gln627Glu)
n.1477C>G
c.1885C>G (p.Gln629Glu)
c.623C>G
c.1813C>G (p.Gln605Glu)
n.2040C>G
c.1579C>G (p.Gln527Glu)
c.1816C>G (p.Gln606Glu)
15g.74180854G>TCA393129079STRA6c.1768C>A (p.Gln590Lys)
c.1744C>A (p.Gln582Lys)
c.1741C>A (p.Gln581Lys)
c.1879C>A (p.Gln627Lys)
n.1477C>A
c.1885C>A (p.Gln629Lys)
c.623C>A
c.1813C>A (p.Gln605Lys)
n.2040C>A
c.1579C>A (p.Gln527Lys)
c.1816C>A (p.Gln606Lys)
15g.74180855C>ACA491170522STRA6c.1767G>T (p.Leu589=)
c.1743G>T (p.Leu581=)
c.1740G>T (p.Leu580=)
c.1878G>T (p.Leu626=)
n.1476G>T
c.1884G>T (p.Leu628=)
c.622G>T
c.1812G>T (p.Leu604=)
n.2039G>T
c.1578G>T (p.Leu526=)
c.1815G>T (p.Leu605=)
15g.74180855C>GCA491170521STRA6c.1767G>C (p.Leu589=)
c.1743G>C (p.Leu581=)
c.1740G>C (p.Leu580=)
c.1878G>C (p.Leu626=)
n.1476G>C
c.1884G>C (p.Leu628=)
c.622G>C
c.1812G>C (p.Leu604=)
n.2039G>C
c.1578G>C (p.Leu526=)
c.1815G>C (p.Leu605=)
15g.74180855C>TCA491170520STRA6c.1767G>A (p.Leu589=)
c.1743G>A (p.Leu581=)
c.1740G>A (p.Leu580=)
c.1878G>A (p.Leu626=)
n.1476G>A
c.1884G>A (p.Leu628=)
c.622G>A
c.1812G>A (p.Leu604=)
n.2039G>A
c.1578G>A (p.Leu526=)
c.1815G>A (p.Leu605=)
15g.74180856A=CA2187550065STRA6c.1766T= (p.Leu589=)
c.1742T= (p.Leu581=)
c.1739T= (p.Leu580=)
c.1877T= (p.Leu626=)
n.1475T=
c.1883T= (p.Leu628=)
c.621T=
c.1811T= (p.Leu604=)
n.2038T=
c.1577T= (p.Leu526=)
c.1814T= (p.Leu605=)
15g.74180856A>CCA393129084STRA6c.1766T>G (p.Leu589Arg)
c.1742T>G (p.Leu581Arg)
c.1739T>G (p.Leu580Arg)
c.1877T>G (p.Leu626Arg)
n.1475T>G
c.1883T>G (p.Leu628Arg)
c.621T>G
c.1811T>G (p.Leu604Arg)
n.2038T>G
c.1577T>G (p.Leu526Arg)
c.1814T>G (p.Leu605Arg)
15g.74180856A>GCA272746602STRA6c.1766T>C (p.Leu589Pro)
c.1742T>C (p.Leu581Pro)
c.1739T>C (p.Leu580Pro)
c.1877T>C (p.Leu626Pro)
n.1475T>C
c.1883T>C (p.Leu628Pro)
c.621T>C
c.1811T>C (p.Leu604Pro)
n.2038T>C
c.1577T>C (p.Leu526Pro)
c.1814T>C (p.Leu605Pro)
 dbSNP gnomAD v4
15g.74180856A>TCA393129088STRA6c.1766T>A (p.Leu589Gln)
c.1742T>A (p.Leu581Gln)
c.1739T>A (p.Leu580Gln)
c.1877T>A (p.Leu626Gln)
n.1475T>A
c.1883T>A (p.Leu628Gln)
c.621T>A
c.1811T>A (p.Leu604Gln)
n.2038T>A
c.1577T>A (p.Leu526Gln)
c.1814T>A (p.Leu605Gln)
15g.74180857G>ACA491170526STRA6c.1765C>T (p.Leu589=)
c.1741C>T (p.Leu581=)
c.1738C>T (p.Leu580=)
c.1876C>T (p.Leu626=)
n.1474C>T
c.1882C>T (p.Leu628=)
c.620C>T
c.1810C>T (p.Leu604=)
n.2037C>T
c.1576C>T (p.Leu526=)
c.1813C>T (p.Leu605=)
15g.74180857G>CCA393129089STRA6c.1765C>G (p.Leu589Val)
c.1741C>G (p.Leu581Val)
c.1738C>G (p.Leu580Val)
c.1876C>G (p.Leu626Val)
n.1474C>G
c.1882C>G (p.Leu628Val)
c.620C>G
c.1810C>G (p.Leu604Val)
n.2037C>G
c.1576C>G (p.Leu526Val)
c.1813C>G (p.Leu605Val)
15g.74180857G>TCA393129090STRA6c.1765C>A (p.Leu589Met)
c.1741C>A (p.Leu581Met)
c.1738C>A (p.Leu580Met)
c.1876C>A (p.Leu626Met)
n.1474C>A
c.1882C>A (p.Leu628Met)
c.620C>A
c.1810C>A (p.Leu604Met)
n.2037C>A
c.1576C>A (p.Leu526Met)
c.1813C>A (p.Leu605Met)
15g.74180858G>ACA491170527STRA6c.1764C>T (p.Leu588=)
c.1740C>T (p.Leu580=)
c.1737C>T (p.Leu579=)
c.1875C>T (p.Leu625=)
n.1473C>T
c.1881C>T (p.Leu627=)
c.619C>T
c.1809C>T (p.Leu603=)
n.2036C>T
c.1575C>T (p.Leu525=)
c.1812C>T (p.Leu604=)
15g.74180858G>CCA491170528STRA6c.1764C>G (p.Leu588=)
c.1740C>G (p.Leu580=)
c.1737C>G (p.Leu579=)
c.1875C>G (p.Leu625=)
n.1473C>G
c.1881C>G (p.Leu627=)
c.619C>G
c.1809C>G (p.Leu603=)
n.2036C>G
c.1575C>G (p.Leu525=)
c.1812C>G (p.Leu604=)
15g.74180858G>TCA491170530STRA6c.1764C>A (p.Leu588=)
c.1740C>A (p.Leu580=)
c.1737C>A (p.Leu579=)
c.1875C>A (p.Leu625=)
n.1473C>A
c.1881C>A (p.Leu627=)
c.619C>A
c.1809C>A (p.Leu603=)
n.2036C>A
c.1575C>A (p.Leu525=)
c.1812C>A (p.Leu604=)
15g.74180859A>CCA393129091STRA6c.1763T>G (p.Leu588Arg)
c.1739T>G (p.Leu580Arg)
c.1736T>G (p.Leu579Arg)
c.1874T>G (p.Leu625Arg)
n.1472T>G
c.1880T>G (p.Leu627Arg)
c.618T>G
c.1808T>G (p.Leu603Arg)
n.2035T>G
c.1574T>G (p.Leu525Arg)
c.1811T>G (p.Leu604Arg)
15g.74180859A>GCA393129092STRA6c.1763T>C (p.Leu588Pro)
c.1739T>C (p.Leu580Pro)
c.1736T>C (p.Leu579Pro)
c.1874T>C (p.Leu625Pro)
n.1472T>C
c.1880T>C (p.Leu627Pro)
c.618T>C
c.1808T>C (p.Leu603Pro)
n.2035T>C
c.1574T>C (p.Leu525Pro)
c.1811T>C (p.Leu604Pro)
15g.74180859A>TCA393129093STRA6c.1763T>A (p.Leu588His)
c.1739T>A (p.Leu580His)
c.1736T>A (p.Leu579His)
c.1874T>A (p.Leu625His)
n.1472T>A
c.1880T>A (p.Leu627His)
c.618T>A
c.1808T>A (p.Leu603His)
n.2035T>A
c.1574T>A (p.Leu525His)
c.1811T>A (p.Leu604His)
15g.74180860G>ACA393129094STRA6c.1762C>T (p.Leu588Phe)
c.1738C>T (p.Leu580Phe)
c.1735C>T (p.Leu579Phe)
c.1873C>T (p.Leu625Phe)
n.1471C>T
c.1879C>T (p.Leu627Phe)
c.617C>T
c.1807C>T (p.Leu603Phe)
n.2034C>T
c.1573C>T (p.Leu525Phe)
c.1810C>T (p.Leu604Phe)
15g.74180860G>CCA393129095STRA6c.1762C>G (p.Leu588Val)
c.1738C>G (p.Leu580Val)
c.1735C>G (p.Leu579Val)
c.1873C>G (p.Leu625Val)
n.1471C>G
c.1879C>G (p.Leu627Val)
c.617C>G
c.1807C>G (p.Leu603Val)
n.2034C>G
c.1573C>G (p.Leu525Val)
c.1810C>G (p.Leu604Val)
15g.74180860G>TCA393129096STRA6c.1762C>A (p.Leu588Ile)
c.1738C>A (p.Leu580Ile)
c.1735C>A (p.Leu579Ile)
c.1873C>A (p.Leu625Ile)
n.1471C>A
c.1879C>A (p.Leu627Ile)
c.617C>A
c.1807C>A (p.Leu603Ile)
n.2034C>A
c.1573C>A (p.Leu525Ile)
c.1810C>A (p.Leu604Ile)
 gnomAD v4
15g.74180861C>ACA491170534STRA6c.1761G>T (p.Leu587=)
c.1737G>T (p.Leu579=)
c.1734G>T (p.Leu578=)
c.1872G>T (p.Leu624=)
n.1470G>T
c.1878G>T (p.Leu626=)
c.616G>T
c.1806G>T (p.Leu602=)
n.2033G>T
c.1572G>T (p.Leu524=)
c.1809G>T (p.Leu603=)
 gnomAD v4
15g.74180861C>GCA491170532STRA6c.1761G>C (p.Leu587=)
c.1737G>C (p.Leu579=)
c.1734G>C (p.Leu578=)
c.1872G>C (p.Leu624=)
n.1470G>C
c.1878G>C (p.Leu626=)
c.616G>C
c.1806G>C (p.Leu602=)
n.2033G>C
c.1572G>C (p.Leu524=)
c.1809G>C (p.Leu603=)
15g.74180861C>TCA491170533STRA6c.1761G>A (p.Leu587=)
c.1737G>A (p.Leu579=)
c.1734G>A (p.Leu578=)
c.1872G>A (p.Leu624=)
n.1470G>A
c.1878G>A (p.Leu626=)
c.616G>A
c.1806G>A (p.Leu602=)
n.2033G>A
c.1572G>A (p.Leu524=)
c.1809G>A (p.Leu603=)
 gnomAD v4
15g.74180862A>CCA393129099STRA6c.1760T>G (p.Leu587Arg)
c.1736T>G (p.Leu579Arg)
c.1733T>G (p.Leu578Arg)
c.1871T>G (p.Leu624Arg)
n.1469T>G
c.1877T>G (p.Leu626Arg)
c.615T>G
c.1805T>G (p.Leu602Arg)
n.2032T>G
c.1571T>G (p.Leu524Arg)
c.1808T>G (p.Leu603Arg)
15g.74180862A>GCA393129097STRA6c.1760T>C (p.Leu587Pro)
c.1736T>C (p.Leu579Pro)
c.1733T>C (p.Leu578Pro)
c.1871T>C (p.Leu624Pro)
n.1469T>C
c.1877T>C (p.Leu626Pro)
c.615T>C
c.1805T>C (p.Leu602Pro)
n.2032T>C
c.1571T>C (p.Leu524Pro)
c.1808T>C (p.Leu603Pro)
15g.74180862A>TCA393129098STRA6c.1760T>A (p.Leu587Gln)
c.1736T>A (p.Leu579Gln)
c.1733T>A (p.Leu578Gln)
c.1871T>A (p.Leu624Gln)
n.1469T>A
c.1877T>A (p.Leu626Gln)
c.615T>A
c.1805T>A (p.Leu602Gln)
n.2032T>A
c.1571T>A (p.Leu524Gln)
c.1808T>A (p.Leu603Gln)
15g.74180863G>ACA491170538STRA6c.1759C>T (p.Leu587=)
c.1735C>T (p.Leu579=)
c.1732C>T (p.Leu578=)
c.1870C>T (p.Leu624=)
n.1468C>T
c.1876C>T (p.Leu626=)
c.614C>T
c.1804C>T (p.Leu602=)
n.2031C>T
c.1570C>T (p.Leu524=)
c.1807C>T (p.Leu603=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74180863G>CCA393129100STRA6c.1759C>G (p.Leu587Val)
c.1735C>G (p.Leu579Val)
c.1732C>G (p.Leu578Val)
c.1870C>G (p.Leu624Val)
n.1468C>G
c.1876C>G (p.Leu626Val)
c.614C>G
c.1804C>G (p.Leu602Val)
n.2031C>G
c.1570C>G (p.Leu524Val)
c.1807C>G (p.Leu603Val)
15g.74180863G=CA2187550066STRA6c.1759C= (p.Leu587=)
c.1735C= (p.Leu579=)
c.1732C= (p.Leu578=)
c.1870C= (p.Leu624=)
n.1468C=
c.1876C= (p.Leu626=)
c.614C=
c.1804C= (p.Leu602=)
n.2031C=
c.1570C= (p.Leu524=)
c.1807C= (p.Leu603=)
15g.74180863G>TCA393129101STRA6c.1759C>A (p.Leu587Met)
c.1735C>A (p.Leu579Met)
c.1732C>A (p.Leu578Met)
c.1870C>A (p.Leu624Met)
n.1468C>A
c.1876C>A (p.Leu626Met)
c.614C>A
c.1804C>A (p.Leu602Met)
n.2031C>A
c.1570C>A (p.Leu524Met)
c.1807C>A (p.Leu603Met)
15g.74180864G>ACA491170539STRA6c.1758C>T (p.Ser586=)
c.1734C>T (p.Ser578=)
c.1731C>T (p.Ser577=)
c.1869C>T (p.Ser623=)
n.1467C>T
c.1875C>T (p.Ser625=)
c.613C>T
c.1803C>T (p.Ser601=)
n.2030C>T
c.1569C>T (p.Ser523=)
c.1806C>T (p.Ser602=)
15g.74180864G>CCA491170540STRA6c.1758C>G (p.Ser586=)
c.1734C>G (p.Ser578=)
c.1731C>G (p.Ser577=)
c.1869C>G (p.Ser623=)
n.1467C>G
c.1875C>G (p.Ser625=)
c.613C>G
c.1803C>G (p.Ser601=)
n.2030C>G
c.1569C>G (p.Ser523=)
c.1806C>G (p.Ser602=)
15g.74180864G>TCA491170542STRA6c.1758C>A (p.Ser586=)
c.1734C>A (p.Ser578=)
c.1731C>A (p.Ser577=)
c.1869C>A (p.Ser623=)
n.1467C>A
c.1875C>A (p.Ser625=)
c.613C>A
c.1803C>A (p.Ser601=)
n.2030C>A
c.1569C>A (p.Ser523=)
c.1806C>A (p.Ser602=)
15g.74180865G>ACA393129102STRA6c.1757C>T (p.Ser586Phe)
c.1733C>T (p.Ser578Phe)
c.1730C>T (p.Ser577Phe)
c.1868C>T (p.Ser623Phe)
n.1466C>T
c.1874C>T (p.Ser625Phe)
c.612C>T
c.1802C>T (p.Ser601Phe)
n.2029C>T
c.1568C>T (p.Ser523Phe)
c.1805C>T (p.Ser602Phe)
15g.74180865G>CCA393129103STRA6c.1757C>G (p.Ser586Cys)
c.1733C>G (p.Ser578Cys)
c.1730C>G (p.Ser577Cys)
c.1868C>G (p.Ser623Cys)
n.1466C>G
c.1874C>G (p.Ser625Cys)
c.612C>G
c.1802C>G (p.Ser601Cys)
n.2029C>G
c.1568C>G (p.Ser523Cys)
c.1805C>G (p.Ser602Cys)
15g.74180865G>TCA393129104STRA6c.1757C>A (p.Ser586Tyr)
c.1733C>A (p.Ser578Tyr)
c.1730C>A (p.Ser577Tyr)
c.1868C>A (p.Ser623Tyr)
n.1466C>A
c.1874C>A (p.Ser625Tyr)
c.612C>A
c.1802C>A (p.Ser601Tyr)
n.2029C>A
c.1568C>A (p.Ser523Tyr)
c.1805C>A (p.Ser602Tyr)
15g.74180866A>CCA393129105STRA6c.1756T>G (p.Ser586Ala)
c.1732T>G (p.Ser578Ala)
c.1729T>G (p.Ser577Ala)
c.1867T>G (p.Ser623Ala)
n.1465T>G
c.1873T>G (p.Ser625Ala)
c.611T>G
c.1801T>G (p.Ser601Ala)
n.2028T>G
c.1567T>G (p.Ser523Ala)
c.1804T>G (p.Ser602Ala)
15g.74180866A>GCA393129106STRA6c.1756T>C (p.Ser586Pro)
c.1732T>C (p.Ser578Pro)
c.1729T>C (p.Ser577Pro)
c.1867T>C (p.Ser623Pro)
n.1465T>C
c.1873T>C (p.Ser625Pro)
c.611T>C
c.1801T>C (p.Ser601Pro)
n.2028T>C
c.1567T>C (p.Ser523Pro)
c.1804T>C (p.Ser602Pro)
15g.74180866A>TCA393129107STRA6c.1756T>A (p.Ser586Thr)
c.1732T>A (p.Ser578Thr)
c.1729T>A (p.Ser577Thr)
c.1867T>A (p.Ser623Thr)
n.1465T>A
c.1873T>A (p.Ser625Thr)
c.611T>A
c.1801T>A (p.Ser601Thr)
n.2028T>A
c.1567T>A (p.Ser523Thr)
c.1804T>A (p.Ser602Thr)
 gnomAD v4
15g.74180867G>ACA491170548STRA6c.1755C>T (p.Cys585=)
c.1731C>T (p.Cys577=)
c.1728C>T (p.Cys576=)
c.1866C>T (p.Cys622=)
n.1464C>T
c.1872C>T (p.Cys624=)
c.610C>T
c.1800C>T (p.Cys600=)
n.2027C>T
c.1566C>T (p.Cys522=)
c.1803C>T (p.Cys601=)
15g.74180867G>CCA393129108STRA6c.1755C>G (p.Cys585Trp)
c.1731C>G (p.Cys577Trp)
c.1728C>G (p.Cys576Trp)
c.1866C>G (p.Cys622Trp)
n.1464C>G
c.1872C>G (p.Cys624Trp)
c.610C>G
c.1800C>G (p.Cys600Trp)
n.2027C>G
c.1566C>G (p.Cys522Trp)
c.1803C>G (p.Cys601Trp)
15g.74180867G>TCA393129109STRA6c.1755C>A (p.Cys585Ter)
c.1731C>A (p.Cys577Ter)
c.1728C>A (p.Cys576Ter)
c.1866C>A (p.Cys622Ter)
n.1464C>A
c.1872C>A (p.Cys624Ter)
c.610C>A
c.1800C>A (p.Cys600Ter)
n.2027C>A
c.1566C>A (p.Cys522Ter)
c.1803C>A (p.Cys601Ter)
15g.74180868C>ACA393129112STRA6c.1754G>T (p.Cys585Phe)
c.1730G>T (p.Cys577Phe)
c.1727G>T (p.Cys576Phe)
c.1865G>T (p.Cys622Phe)
n.1463G>T
c.1871G>T (p.Cys624Phe)
c.609G>T
c.1799G>T (p.Cys600Phe)
n.2026G>T
c.1565G>T (p.Cys522Phe)
c.1802G>T (p.Cys601Phe)
 gnomAD v4
15g.74180868C>GCA393129111STRA6c.1754G>C (p.Cys585Ser)
c.1730G>C (p.Cys577Ser)
c.1727G>C (p.Cys576Ser)
c.1865G>C (p.Cys622Ser)
n.1463G>C
c.1871G>C (p.Cys624Ser)
c.609G>C
c.1799G>C (p.Cys600Ser)
n.2026G>C
c.1565G>C (p.Cys522Ser)
c.1802G>C (p.Cys601Ser)
15g.74180868C>TCA393129110STRA6c.1754G>A (p.Cys585Tyr)
c.1730G>A (p.Cys577Tyr)
c.1727G>A (p.Cys576Tyr)
c.1865G>A (p.Cys622Tyr)
n.1463G>A
c.1871G>A (p.Cys624Tyr)
c.609G>A
c.1799G>A (p.Cys600Tyr)
n.2026G>A
c.1565G>A (p.Cys522Tyr)
c.1802G>A (p.Cys601Tyr)
15g.74180869A>CCA393129113STRA6c.1753T>G (p.Cys585Gly)
c.1729T>G (p.Cys577Gly)
c.1726T>G (p.Cys576Gly)
c.1864T>G (p.Cys622Gly)
n.1462T>G
c.1870T>G (p.Cys624Gly)
c.608T>G
c.1798T>G (p.Cys600Gly)
n.2025T>G
c.1564T>G (p.Cys522Gly)
c.1801T>G (p.Cys601Gly)
15g.74180869A>GCA393129114STRA6c.1753T>C (p.Cys585Arg)
c.1729T>C (p.Cys577Arg)
c.1726T>C (p.Cys576Arg)
c.1864T>C (p.Cys622Arg)
n.1462T>C
c.1870T>C (p.Cys624Arg)
c.608T>C
c.1798T>C (p.Cys600Arg)
n.2025T>C
c.1564T>C (p.Cys522Arg)
c.1801T>C (p.Cys601Arg)
15g.74180869A>TCA393129115STRA6c.1753T>A (p.Cys585Ser)
c.1729T>A (p.Cys577Ser)
c.1726T>A (p.Cys576Ser)
c.1864T>A (p.Cys622Ser)
n.1462T>A
c.1870T>A (p.Cys624Ser)
c.608T>A
c.1798T>A (p.Cys600Ser)
n.2025T>A
c.1564T>A (p.Cys522Ser)
c.1801T>A (p.Cys601Ser)
15g.74180870G>ACA491170549STRA6c.1752C>T (p.Phe584=)
c.1728C>T (p.Phe576=)
c.1725C>T (p.Phe575=)
c.1863C>T (p.Phe621=)
n.1461C>T
c.1869C>T (p.Phe623=)
c.607C>T
c.1797C>T (p.Phe599=)
n.2024C>T
c.1563C>T (p.Phe521=)
c.1800C>T (p.Phe600=)
15g.74180870G>CCA393129116STRA6c.1752C>G (p.Phe584Leu)
c.1728C>G (p.Phe576Leu)
c.1725C>G (p.Phe575Leu)
c.1863C>G (p.Phe621Leu)
n.1461C>G
c.1869C>G (p.Phe623Leu)
c.607C>G
c.1797C>G (p.Phe599Leu)
n.2024C>G
c.1563C>G (p.Phe521Leu)
c.1800C>G (p.Phe600Leu)
15g.74180870G>TCA393129117STRA6c.1752C>A (p.Phe584Leu)
c.1728C>A (p.Phe576Leu)
c.1725C>A (p.Phe575Leu)
c.1863C>A (p.Phe621Leu)
n.1461C>A
c.1869C>A (p.Phe623Leu)
c.607C>A
c.1797C>A (p.Phe599Leu)
n.2024C>A
c.1563C>A (p.Phe521Leu)
c.1800C>A (p.Phe600Leu)
15g.74180871A>CCA393129118STRA6c.1751T>G (p.Phe584Cys)
c.1727T>G (p.Phe576Cys)
c.1724T>G (p.Phe575Cys)
c.1862T>G (p.Phe621Cys)
n.1460T>G
c.1868T>G (p.Phe623Cys)
c.606T>G
c.1796T>G (p.Phe599Cys)
n.2023T>G
c.1562T>G (p.Phe521Cys)
c.1799T>G (p.Phe600Cys)
15g.74180871A>GCA393129119STRA6c.1751T>C (p.Phe584Ser)
c.1727T>C (p.Phe576Ser)
c.1724T>C (p.Phe575Ser)
c.1862T>C (p.Phe621Ser)
n.1460T>C
c.1868T>C (p.Phe623Ser)
c.606T>C
c.1796T>C (p.Phe599Ser)
n.2023T>C
c.1562T>C (p.Phe521Ser)
c.1799T>C (p.Phe600Ser)
15g.74180871A>TCA393129120STRA6c.1751T>A (p.Phe584Tyr)
c.1727T>A (p.Phe576Tyr)
c.1724T>A (p.Phe575Tyr)
c.1862T>A (p.Phe621Tyr)
n.1460T>A
c.1868T>A (p.Phe623Tyr)
c.606T>A
c.1796T>A (p.Phe599Tyr)
n.2023T>A
c.1562T>A (p.Phe521Tyr)
c.1799T>A (p.Phe600Tyr)
15g.74180872A>CCA393129121STRA6c.1750T>G (p.Phe584Val)
c.1726T>G (p.Phe576Val)
c.1723T>G (p.Phe575Val)
c.1861T>G (p.Phe621Val)
n.1459T>G
c.1867T>G (p.Phe623Val)
c.605T>G
c.1795T>G (p.Phe599Val)
n.2022T>G
c.1561T>G (p.Phe521Val)
c.1798T>G (p.Phe600Val)
15g.74180872A>GCA393129122STRA6c.1750T>C (p.Phe584Leu)
c.1726T>C (p.Phe576Leu)
c.1723T>C (p.Phe575Leu)
c.1861T>C (p.Phe621Leu)
n.1459T>C
c.1867T>C (p.Phe623Leu)
c.605T>C
c.1795T>C (p.Phe599Leu)
n.2022T>C
c.1561T>C (p.Phe521Leu)
c.1798T>C (p.Phe600Leu)
15g.74180872A>TCA393129123STRA6c.1750T>A (p.Phe584Ile)
c.1726T>A (p.Phe576Ile)
c.1723T>A (p.Phe575Ile)
c.1861T>A (p.Phe621Ile)
n.1459T>A
c.1867T>A (p.Phe623Ile)
c.605T>A
c.1795T>A (p.Phe599Ile)
n.2022T>A
c.1561T>A (p.Phe521Ile)
c.1798T>A (p.Phe600Ile)
15g.74180873G>ACA491170660STRA6c.1749C>T (p.Ala583=)
c.1725C>T (p.Ala575=)
c.1722C>T (p.Ala574=)
c.1860C>T (p.Ala620=)
n.1458C>T
c.1866C>T (p.Ala622=)
c.604C>T
c.1794C>T (p.Ala598=)
n.2021C>T
c.1560C>T (p.Ala520=)
c.1797C>T (p.Ala599=)
 gnomAD v4
15g.74180873G>CCA491170661STRA6c.1749C>G (p.Ala583=)
c.1725C>G (p.Ala575=)
c.1722C>G (p.Ala574=)
c.1860C>G (p.Ala620=)
n.1458C>G
c.1866C>G (p.Ala622=)
c.604C>G
c.1794C>G (p.Ala598=)
n.2021C>G
c.1560C>G (p.Ala520=)
c.1797C>G (p.Ala599=)
15g.74180873G>TCA491170662STRA6c.1749C>A (p.Ala583=)
c.1725C>A (p.Ala575=)
c.1722C>A (p.Ala574=)
c.1860C>A (p.Ala620=)
n.1458C>A
c.1866C>A (p.Ala622=)
c.604C>A
c.1794C>A (p.Ala598=)
n.2021C>A
c.1560C>A (p.Ala520=)
c.1797C>A (p.Ala599=)
15g.74180874G>ACA393129126STRA6c.1748C>T (p.Ala583Val)
c.1724C>T (p.Ala575Val)
c.1721C>T (p.Ala574Val)
c.1859C>T (p.Ala620Val)
n.1457C>T
c.1865C>T (p.Ala622Val)
c.603C>T
c.1793C>T (p.Ala598Val)
n.2020C>T
c.1559C>T (p.Ala520Val)
c.1796C>T (p.Ala599Val)
15g.74180874G>CCA393129125STRA6c.1748C>G (p.Ala583Gly)
c.1724C>G (p.Ala575Gly)
c.1721C>G (p.Ala574Gly)
c.1859C>G (p.Ala620Gly)
n.1457C>G
c.1865C>G (p.Ala622Gly)
c.603C>G
c.1793C>G (p.Ala598Gly)
n.2020C>G
c.1559C>G (p.Ala520Gly)
c.1796C>G (p.Ala599Gly)
15g.74180874G>TCA393129124STRA6c.1748C>A (p.Ala583Asp)
c.1724C>A (p.Ala575Asp)
c.1721C>A (p.Ala574Asp)
c.1859C>A (p.Ala620Asp)
n.1457C>A
c.1865C>A (p.Ala622Asp)
c.603C>A
c.1793C>A (p.Ala598Asp)
n.2020C>A
c.1559C>A (p.Ala520Asp)
c.1796C>A (p.Ala599Asp)
15g.74180875C>ACA393129127STRA6c.1747G>T (p.Ala583Ser)
c.1723G>T (p.Ala575Ser)
c.1720G>T (p.Ala574Ser)
c.1858G>T (p.Ala620Ser)
n.1456G>T
c.1864G>T (p.Ala622Ser)
c.602G>T
c.1792G>T (p.Ala598Ser)
n.2019G>T
c.1558G>T (p.Ala520Ser)
c.1795G>T (p.Ala599Ser)
15g.74180875C=CA2187550067STRA6c.1747G= (p.Ala583=)
c.1723G= (p.Ala575=)
c.1720G= (p.Ala574=)
c.1858G= (p.Ala620=)
n.1456G=
c.1864G= (p.Ala622=)
c.602G=
c.1792G= (p.Ala598=)
n.2019G=
c.1558G= (p.Ala520=)
c.1795G= (p.Ala599=)
15g.74180875C>GCA393129128STRA6c.1747G>C (p.Ala583Pro)
c.1723G>C (p.Ala575Pro)
c.1720G>C (p.Ala574Pro)
c.1858G>C (p.Ala620Pro)
n.1456G>C
c.1864G>C (p.Ala622Pro)
c.602G>C
c.1792G>C (p.Ala598Pro)
n.2019G>C
c.1558G>C (p.Ala520Pro)
c.1795G>C (p.Ala599Pro)
15g.74180875C>TCA393129129STRA6c.1747G>A (p.Ala583Thr)
c.1723G>A (p.Ala575Thr)
c.1720G>A (p.Ala574Thr)
c.1858G>A (p.Ala620Thr)
n.1456G>A
c.1864G>A (p.Ala622Thr)
c.602G>A
c.1792G>A (p.Ala598Thr)
n.2019G>A
c.1558G>A (p.Ala520Thr)
c.1795G>A (p.Ala599Thr)
 dbSNP gnomAD v4
15g.74180876T>ACA491170664STRA6c.1746A>T (p.Thr582=)
c.1722A>T (p.Thr574=)
c.1719A>T (p.Thr573=)
c.1857A>T (p.Thr619=)
n.1455A>T
c.1863A>T (p.Thr621=)
c.601A>T
c.1791A>T (p.Thr597=)
n.2018A>T
c.1557A>T (p.Thr519=)
c.1794A>T (p.Thr598=)
15g.74180876T>CCA491170665STRA6c.1746A>G (p.Thr582=)
c.1722A>G (p.Thr574=)
c.1719A>G (p.Thr573=)
c.1857A>G (p.Thr619=)
n.1455A>G
c.1863A>G (p.Thr621=)
c.601A>G
c.1791A>G (p.Thr597=)
n.2018A>G
c.1557A>G (p.Thr519=)
c.1794A>G (p.Thr598=)
 dbSNP
15g.74180876T>GCA491170666STRA6c.1746A>C (p.Thr582=)
c.1722A>C (p.Thr574=)
c.1719A>C (p.Thr573=)
c.1857A>C (p.Thr619=)
n.1455A>C
c.1863A>C (p.Thr621=)
c.601A>C
c.1791A>C (p.Thr597=)
n.2018A>C
c.1557A>C (p.Thr519=)
c.1794A>C (p.Thr598=)
15g.74180876T=CA2187550068STRA6c.1746A= (p.Thr582=)
c.1722A= (p.Thr574=)
c.1719A= (p.Thr573=)
c.1857A= (p.Thr619=)
n.1455A=
c.1863A= (p.Thr621=)
c.601A=
c.1791A= (p.Thr597=)
n.2018A=
c.1557A= (p.Thr519=)
c.1794A= (p.Thr598=)
15g.74180877G>ACA393129130STRA6c.1745C>T (p.Thr582Ile)
c.1721C>T (p.Thr574Ile)
c.1718C>T (p.Thr573Ile)
c.1856C>T (p.Thr619Ile)
n.1454C>T
c.1862C>T (p.Thr621Ile)
c.600C>T
c.1790C>T (p.Thr597Ile)
n.2017C>T
c.1556C>T (p.Thr519Ile)
c.1793C>T (p.Thr598Ile)
 gnomAD v4
15g.74180877G>CCA393129131STRA6c.1745C>G (p.Thr582Arg)
c.1721C>G (p.Thr574Arg)
c.1718C>G (p.Thr573Arg)
c.1856C>G (p.Thr619Arg)
n.1454C>G
c.1862C>G (p.Thr621Arg)
c.600C>G
c.1790C>G (p.Thr597Arg)
n.2017C>G
c.1556C>G (p.Thr519Arg)
c.1793C>G (p.Thr598Arg)
15g.74180877G>TCA393129132STRA6c.1745C>A (p.Thr582Lys)
c.1721C>A (p.Thr574Lys)
c.1718C>A (p.Thr573Lys)
c.1856C>A (p.Thr619Lys)
n.1454C>A
c.1862C>A (p.Thr621Lys)
c.600C>A
c.1790C>A (p.Thr597Lys)
n.2017C>A
c.1556C>A (p.Thr519Lys)
c.1793C>A (p.Thr598Lys)
15g.74180878T>ACA393129133STRA6c.1744A>T (p.Thr582Ser)
c.1720A>T (p.Thr574Ser)
c.1717A>T (p.Thr573Ser)
c.1855A>T (p.Thr619Ser)
n.1453A>T
c.1861A>T (p.Thr621Ser)
c.599A>T
c.1789A>T (p.Thr597Ser)
n.2016A>T
c.1555A>T (p.Thr519Ser)
c.1792A>T (p.Thr598Ser)
15g.74180878T>CCA393129134STRA6c.1744A>G (p.Thr582Ala)
c.1720A>G (p.Thr574Ala)
c.1717A>G (p.Thr573Ala)
c.1855A>G (p.Thr619Ala)
n.1453A>G
c.1861A>G (p.Thr621Ala)
c.599A>G
c.1789A>G (p.Thr597Ala)
n.2016A>G
c.1555A>G (p.Thr519Ala)
c.1792A>G (p.Thr598Ala)
 gnomAD v4
15g.74180878T>GCA393129135STRA6c.1744A>C (p.Thr582Pro)
c.1720A>C (p.Thr574Pro)
c.1717A>C (p.Thr573Pro)
c.1855A>C (p.Thr619Pro)
n.1453A>C
c.1861A>C (p.Thr621Pro)
c.599A>C
c.1789A>C (p.Thr597Pro)
n.2016A>C
c.1555A>C (p.Thr519Pro)
c.1792A>C (p.Thr598Pro)
15g.74180879C>ACA393129136STRA6c.1743G>T (p.Met581Ile)
c.1719G>T (p.Met573Ile)
c.1716G>T (p.Met572Ile)
c.1854G>T (p.Met618Ile)
n.1452G>T
c.1860G>T (p.Met620Ile)
c.598G>T
c.1788G>T (p.Met596Ile)
n.2015G>T
c.1554G>T (p.Met518Ile)
c.1791G>T (p.Met597Ile)
 gnomAD v4
15g.74180879C>GCA393129137STRA6c.1743G>C (p.Met581Ile)
c.1719G>C (p.Met573Ile)
c.1716G>C (p.Met572Ile)
c.1854G>C (p.Met618Ile)
n.1452G>C
c.1860G>C (p.Met620Ile)
c.598G>C
c.1788G>C (p.Met596Ile)
n.2015G>C
c.1554G>C (p.Met518Ile)
c.1791G>C (p.Met597Ile)
15g.74180879C>TCA393129138STRA6c.1743G>A (p.Met581Ile)
c.1719G>A (p.Met573Ile)
c.1716G>A (p.Met572Ile)
c.1854G>A (p.Met618Ile)
n.1452G>A
c.1860G>A (p.Met620Ile)
c.598G>A
c.1788G>A (p.Met596Ile)
n.2015G>A
c.1554G>A (p.Met518Ile)
c.1791G>A (p.Met597Ile)
15g.74180880A=CA2187550069STRA6c.1742T= (p.Met581=)
c.1718T= (p.Met573=)
c.1715T= (p.Met572=)
c.1853T= (p.Met618=)
n.1451T=
c.1859T= (p.Met620=)
c.597T=
c.1787T= (p.Met596=)
n.2014T=
c.1553T= (p.Met518=)
c.1790T= (p.Met597=)
15g.74180880A>CCA393129140STRA6c.1742T>G (p.Met581Arg)
c.1718T>G (p.Met573Arg)
c.1715T>G (p.Met572Arg)
c.1853T>G (p.Met618Arg)
n.1451T>G
c.1859T>G (p.Met620Arg)
c.597T>G
c.1787T>G (p.Met596Arg)
n.2014T>G
c.1553T>G (p.Met518Arg)
c.1790T>G (p.Met597Arg)
15g.74180880A>GCA272746613STRA6c.1742T>C (p.Met581Thr)
c.1718T>C (p.Met573Thr)
c.1715T>C (p.Met572Thr)
c.1853T>C (p.Met618Thr)
n.1451T>C
c.1859T>C (p.Met620Thr)
c.597T>C
c.1787T>C (p.Met596Thr)
n.2014T>C
c.1553T>C (p.Met518Thr)
c.1790T>C (p.Met597Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.74180880A>TCA393129139STRA6c.1742T>A (p.Met581Lys)
c.1718T>A (p.Met573Lys)
c.1715T>A (p.Met572Lys)
c.1853T>A (p.Met618Lys)
n.1451T>A
c.1859T>A (p.Met620Lys)
c.597T>A
c.1787T>A (p.Met596Lys)
n.2014T>A
c.1553T>A (p.Met518Lys)
c.1790T>A (p.Met597Lys)
15g.74180881T>ACA393129141STRA6c.1741A>T (p.Met581Leu)
c.1717A>T (p.Met573Leu)
c.1714A>T (p.Met572Leu)
c.1852A>T (p.Met618Leu)
n.1450A>T
c.1858A>T (p.Met620Leu)
c.596A>T
c.1786A>T (p.Met596Leu)
n.2013A>T
c.1552A>T (p.Met518Leu)
c.1789A>T (p.Met597Leu)
15g.74180881T>CCA393129143STRA6c.1741A>G (p.Met581Val)
c.1717A>G (p.Met573Val)
c.1714A>G (p.Met572Val)
c.1852A>G (p.Met618Val)
n.1450A>G
c.1858A>G (p.Met620Val)
c.596A>G
c.1786A>G (p.Met596Val)
n.2013A>G
c.1552A>G (p.Met518Val)
c.1789A>G (p.Met597Val)
15g.74180881T>GCA393129142STRA6c.1741A>C (p.Met581Leu)
c.1717A>C (p.Met573Leu)
c.1714A>C (p.Met572Leu)
c.1852A>C (p.Met618Leu)
n.1450A>C
c.1858A>C (p.Met620Leu)
c.596A>C
c.1786A>C (p.Met596Leu)
n.2013A>C
c.1552A>C (p.Met518Leu)
c.1789A>C (p.Met597Leu)
15g.74180882G>ACA491170667STRA6c.1740C>T (p.Ala580=)
c.1716C>T (p.Ala572=)
c.1713C>T (p.Ala571=)
c.1851C>T (p.Ala617=)
n.1449C>T
c.1857C>T (p.Ala619=)
c.595C>T
c.1785C>T (p.Ala595=)
n.2012C>T
c.1551C>T (p.Ala517=)
c.1788C>T (p.Ala596=)
15g.74180882G>CCA491170668STRA6c.1740C>G (p.Ala580=)
c.1716C>G (p.Ala572=)
c.1713C>G (p.Ala571=)
c.1851C>G (p.Ala617=)
n.1449C>G
c.1857C>G (p.Ala619=)
c.595C>G
c.1785C>G (p.Ala595=)
n.2012C>G
c.1551C>G (p.Ala517=)
c.1788C>G (p.Ala596=)
 dbSNP gnomAD v2 gnomAD v4
15g.74180882G=CA2187550070STRA6c.1740C= (p.Ala580=)
c.1716C= (p.Ala572=)
c.1713C= (p.Ala571=)
c.1851C= (p.Ala617=)
n.1449C=
c.1857C= (p.Ala619=)
c.595C=
c.1785C= (p.Ala595=)
n.2012C=
c.1551C= (p.Ala517=)
c.1788C= (p.Ala596=)
15g.74180882G>TCA491170669STRA6c.1740C>A (p.Ala580=)
c.1716C>A (p.Ala572=)
c.1713C>A (p.Ala571=)
c.1851C>A (p.Ala617=)
n.1449C>A
c.1857C>A (p.Ala619=)
c.595C>A
c.1785C>A (p.Ala595=)
n.2012C>A
c.1551C>A (p.Ala517=)
c.1788C>A (p.Ala596=)
15g.74180883G>ACA393129144STRA6c.1739C>T (p.Ala580Val)
c.1715C>T (p.Ala572Val)
c.1712C>T (p.Ala571Val)
c.1850C>T (p.Ala617Val)
n.1448C>T
c.1856C>T (p.Ala619Val)
c.594C>T
c.1784C>T (p.Ala595Val)
n.2011C>T
c.1550C>T (p.Ala517Val)
c.1787C>T (p.Ala596Val)
15g.74180883G>CCA393129145STRA6c.1739C>G (p.Ala580Gly)
c.1715C>G (p.Ala572Gly)
c.1712C>G (p.Ala571Gly)
c.1850C>G (p.Ala617Gly)
n.1448C>G
c.1856C>G (p.Ala619Gly)
c.594C>G
c.1784C>G (p.Ala595Gly)
n.2011C>G
c.1550C>G (p.Ala517Gly)
c.1787C>G (p.Ala596Gly)
15g.74180883G>TCA393129146STRA6c.1739C>A (p.Ala580Asp)
c.1715C>A (p.Ala572Asp)
c.1712C>A (p.Ala571Asp)
c.1850C>A (p.Ala617Asp)
n.1448C>A
c.1856C>A (p.Ala619Asp)
c.594C>A
c.1784C>A (p.Ala595Asp)
n.2011C>A
c.1550C>A (p.Ala517Asp)
c.1787C>A (p.Ala596Asp)

Number of alleles fetched