Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.50242369T>ACA392376872HDCc.1880A>T (p.Lys627Ile)
c.1781A>T (p.Lys594Ile)
n.1624A>T
c.1643A>T (p.Lys548Ile)
c.1448A>T (p.Lys483Ile)
c.1985A>T (p.Lys662Ile)
c.1886A>T (p.Lys629Ile)
c.1757A>T (p.Lys586Ile)
c.1748A>T (p.Lys583Ile)
c.1553A>T (p.Lys518Ile)
15g.50242369T>CCA392376873HDCc.1880A>G (p.Lys627Arg)
c.1781A>G (p.Lys594Arg)
n.1624A>G
c.1643A>G (p.Lys548Arg)
c.1448A>G (p.Lys483Arg)
c.1985A>G (p.Lys662Arg)
c.1886A>G (p.Lys629Arg)
c.1757A>G (p.Lys586Arg)
c.1748A>G (p.Lys583Arg)
c.1553A>G (p.Lys518Arg)
15g.50242369T>GCA392376874HDCc.1880A>C (p.Lys627Thr)
c.1781A>C (p.Lys594Thr)
n.1624A>C
c.1643A>C (p.Lys548Thr)
c.1448A>C (p.Lys483Thr)
c.1985A>C (p.Lys662Thr)
c.1886A>C (p.Lys629Thr)
c.1757A>C (p.Lys586Thr)
c.1748A>C (p.Lys583Thr)
c.1553A>C (p.Lys518Thr)
15g.50242370T>ACA392376875HDCc.1879A>T (p.Lys627Ter)
c.1780A>T (p.Lys594Ter)
n.1623A>T
c.1642A>T (p.Lys548Ter)
c.1447A>T (p.Lys483Ter)
c.1984A>T (p.Lys662Ter)
c.1885A>T (p.Lys629Ter)
c.1756A>T (p.Lys586Ter)
c.1747A>T (p.Lys583Ter)
c.1552A>T (p.Lys518Ter)
15g.50242370T>CCA392376876HDCc.1879A>G (p.Lys627Glu)
c.1780A>G (p.Lys594Glu)
n.1623A>G
c.1642A>G (p.Lys548Glu)
c.1447A>G (p.Lys483Glu)
c.1984A>G (p.Lys662Glu)
c.1885A>G (p.Lys629Glu)
c.1756A>G (p.Lys586Glu)
c.1747A>G (p.Lys583Glu)
c.1552A>G (p.Lys518Glu)
dbSNP gnomAD v3 gnomAD v4
15g.50242370T>GCA392376877HDCc.1879A>C (p.Lys627Gln)
c.1780A>C (p.Lys594Gln)
n.1623A>C
c.1642A>C (p.Lys548Gln)
c.1447A>C (p.Lys483Gln)
c.1984A>C (p.Lys662Gln)
c.1885A>C (p.Lys629Gln)
c.1756A>C (p.Lys586Gln)
c.1747A>C (p.Lys583Gln)
c.1552A>C (p.Lys518Gln)
15g.50242370T=CA2176326566HDCc.1879A= (p.Lys627=)
c.1780A= (p.Lys594=)
n.1623A=
c.1642A= (p.Lys548=)
c.1447A= (p.Lys483=)
c.1984A= (p.Lys662=)
c.1885A= (p.Lys629=)
c.1756A= (p.Lys586=)
c.1747A= (p.Lys583=)
c.1552A= (p.Lys518=)
15g.50242371C>ACA392376878HDCc.1878G>T (p.Lys626Asn)
c.1779G>T (p.Lys593Asn)
n.1622G>T
c.1641G>T (p.Lys547Asn)
c.1446G>T (p.Lys482Asn)
c.1983G>T (p.Lys661Asn)
c.1884G>T (p.Lys628Asn)
c.1755G>T (p.Lys585Asn)
c.1746G>T (p.Lys582Asn)
c.1551G>T (p.Lys517Asn)
15g.50242371C=CA2176326567HDCc.1878G= (p.Lys626=)
c.1779G= (p.Lys593=)
n.1622G=
c.1641G= (p.Lys547=)
c.1446G= (p.Lys482=)
c.1983G= (p.Lys661=)
c.1884G= (p.Lys628=)
c.1755G= (p.Lys585=)
c.1746G= (p.Lys582=)
c.1551G= (p.Lys517=)
15g.50242371C>GCA270413792HDCc.1878G>C (p.Lys626Asn)
c.1779G>C (p.Lys593Asn)
n.1622G>C
c.1641G>C (p.Lys547Asn)
c.1446G>C (p.Lys482Asn)
c.1983G>C (p.Lys661Asn)
c.1884G>C (p.Lys628Asn)
c.1755G>C (p.Lys585Asn)
c.1746G>C (p.Lys582Asn)
c.1551G>C (p.Lys517Asn)
dbSNP
15g.50242371C>TCA490313967HDCc.1878G>A (p.Lys626=)
c.1779G>A (p.Lys593=)
n.1622G>A
c.1641G>A (p.Lys547=)
c.1446G>A (p.Lys482=)
c.1983G>A (p.Lys661=)
c.1884G>A (p.Lys628=)
c.1755G>A (p.Lys585=)
c.1746G>A (p.Lys582=)
c.1551G>A (p.Lys517=)
15g.50242372T>ACA392376879HDCc.1877A>T (p.Lys626Met)
c.1778A>T (p.Lys593Met)
n.1621A>T
c.1640A>T (p.Lys547Met)
c.1445A>T (p.Lys482Met)
c.1982A>T (p.Lys661Met)
c.1883A>T (p.Lys628Met)
c.1754A>T (p.Lys585Met)
c.1745A>T (p.Lys582Met)
c.1550A>T (p.Lys517Met)
15g.50242372T>CCA392376880HDCc.1877A>G (p.Lys626Arg)
c.1778A>G (p.Lys593Arg)
n.1621A>G
c.1640A>G (p.Lys547Arg)
c.1445A>G (p.Lys482Arg)
c.1982A>G (p.Lys661Arg)
c.1883A>G (p.Lys628Arg)
c.1754A>G (p.Lys585Arg)
c.1745A>G (p.Lys582Arg)
c.1550A>G (p.Lys517Arg)
15g.50242372T>GCA392376881HDCc.1877A>C (p.Lys626Thr)
c.1778A>C (p.Lys593Thr)
n.1621A>C
c.1640A>C (p.Lys547Thr)
c.1445A>C (p.Lys482Thr)
c.1982A>C (p.Lys661Thr)
c.1883A>C (p.Lys628Thr)
c.1754A>C (p.Lys585Thr)
c.1745A>C (p.Lys582Thr)
c.1550A>C (p.Lys517Thr)
15g.50242373T>ACA392376884HDCc.1876A>T (p.Lys626Ter)
c.1777A>T (p.Lys593Ter)
n.1620A>T
c.1639A>T (p.Lys547Ter)
c.1444A>T (p.Lys482Ter)
c.1981A>T (p.Lys661Ter)
c.1882A>T (p.Lys628Ter)
c.1753A>T (p.Lys585Ter)
c.1744A>T (p.Lys582Ter)
c.1549A>T (p.Lys517Ter)
15g.50242373T>CCA392376882HDCc.1876A>G (p.Lys626Glu)
c.1777A>G (p.Lys593Glu)
n.1620A>G
c.1639A>G (p.Lys547Glu)
c.1444A>G (p.Lys482Glu)
c.1981A>G (p.Lys661Glu)
c.1882A>G (p.Lys628Glu)
c.1753A>G (p.Lys585Glu)
c.1744A>G (p.Lys582Glu)
c.1549A>G (p.Lys517Glu)
15g.50242373T>GCA392376883HDCc.1876A>C (p.Lys626Gln)
c.1777A>C (p.Lys593Gln)
n.1620A>C
c.1639A>C (p.Lys547Gln)
c.1444A>C (p.Lys482Gln)
c.1981A>C (p.Lys661Gln)
c.1882A>C (p.Lys628Gln)
c.1753A>C (p.Lys585Gln)
c.1744A>C (p.Lys582Gln)
c.1549A>C (p.Lys517Gln)
15g.50242374C>ACA490313970HDCc.1875G>T (p.Leu625=)
c.1776G>T (p.Leu592=)
n.1619G>T
c.1638G>T (p.Leu546=)
c.1443G>T (p.Leu481=)
c.1980G>T (p.Leu660=)
c.1881G>T (p.Leu627=)
c.1752G>T (p.Leu584=)
c.1743G>T (p.Leu581=)
c.1548G>T (p.Leu516=)
15g.50242374C=CA2176326568HDCc.1875G= (p.Leu625=)
c.1776G= (p.Leu592=)
n.1619G=
c.1638G= (p.Leu546=)
c.1443G= (p.Leu481=)
c.1980G= (p.Leu660=)
c.1881G= (p.Leu627=)
c.1752G= (p.Leu584=)
c.1743G= (p.Leu581=)
c.1548G= (p.Leu516=)
15g.50242374C>GCA490313969HDCc.1875G>C (p.Leu625=)
c.1776G>C (p.Leu592=)
n.1619G>C
c.1638G>C (p.Leu546=)
c.1443G>C (p.Leu481=)
c.1980G>C (p.Leu660=)
c.1881G>C (p.Leu627=)
c.1752G>C (p.Leu584=)
c.1743G>C (p.Leu581=)
c.1548G>C (p.Leu516=)
15g.50242374C>TCA490313971HDCc.1875G>A (p.Leu625=)
c.1776G>A (p.Leu592=)
n.1619G>A
c.1638G>A (p.Leu546=)
c.1443G>A (p.Leu481=)
c.1980G>A (p.Leu660=)
c.1881G>A (p.Leu627=)
c.1752G>A (p.Leu584=)
c.1743G>A (p.Leu581=)
c.1548G>A (p.Leu516=)
dbSNP gnomAD v2 gnomAD v4
15g.50242376_50242378dupCA2628396210HDCc.1873_1875dup (p.Leu625_Lys626insLeu)
c.1774_1776dup (p.Leu592_Lys593insLeu)
n.1617_1619dup
c.1636_1638dup (p.Leu546_Lys547insLeu)
c.1441_1443dup (p.Leu481_Lys482insLeu)
c.1978_1980dup (p.Leu660_Lys661insLeu)
c.1879_1881dup (p.Leu627_Lys628insLeu)
c.1750_1752dup (p.Leu584_Lys585insLeu)
c.1741_1743dup (p.Leu581_Lys582insLeu)
c.1546_1548dup (p.Leu516_Lys517insLeu)
gnomAD v4
15g.50242375A=CA2176326569HDCc.1874T= (p.Leu625=)
c.1775T= (p.Leu592=)
n.1618T=
c.1637T= (p.Leu546=)
c.1442T= (p.Leu481=)
c.1979T= (p.Leu660=)
c.1880T= (p.Leu627=)
c.1751T= (p.Leu584=)
c.1742T= (p.Leu581=)
c.1547T= (p.Leu516=)
15g.50242375A>CCA392376885HDCc.1874T>G (p.Leu625Arg)
c.1775T>G (p.Leu592Arg)
n.1618T>G
c.1637T>G (p.Leu546Arg)
c.1442T>G (p.Leu481Arg)
c.1979T>G (p.Leu660Arg)
c.1880T>G (p.Leu627Arg)
c.1751T>G (p.Leu584Arg)
c.1742T>G (p.Leu581Arg)
c.1547T>G (p.Leu516Arg)
15g.50242375A>GCA392376886HDCc.1874T>C (p.Leu625Pro)
c.1775T>C (p.Leu592Pro)
n.1618T>C
c.1637T>C (p.Leu546Pro)
c.1442T>C (p.Leu481Pro)
c.1979T>C (p.Leu660Pro)
c.1880T>C (p.Leu627Pro)
c.1751T>C (p.Leu584Pro)
c.1742T>C (p.Leu581Pro)
c.1547T>C (p.Leu516Pro)
dbSNP gnomAD v2 gnomAD v4
15g.50242375A>TCA392376887HDCc.1874T>A (p.Leu625Gln)
c.1775T>A (p.Leu592Gln)
n.1618T>A
c.1637T>A (p.Leu546Gln)
c.1442T>A (p.Leu481Gln)
c.1979T>A (p.Leu660Gln)
c.1880T>A (p.Leu627Gln)
c.1751T>A (p.Leu584Gln)
c.1742T>A (p.Leu581Gln)
c.1547T>A (p.Leu516Gln)
15g.50242376G>ACA490313973HDCc.1873C>T (p.Leu625=)
c.1774C>T (p.Leu592=)
n.1617C>T
c.1636C>T (p.Leu546=)
c.1441C>T (p.Leu481=)
c.1978C>T (p.Leu660=)
c.1879C>T (p.Leu627=)
c.1750C>T (p.Leu584=)
c.1741C>T (p.Leu581=)
c.1546C>T (p.Leu516=)
dbSNP gnomAD v2 gnomAD v4
15g.50242376G>CCA392376888HDCc.1873C>G (p.Leu625Val)
c.1774C>G (p.Leu592Val)
n.1617C>G
c.1636C>G (p.Leu546Val)
c.1441C>G (p.Leu481Val)
c.1978C>G (p.Leu660Val)
c.1879C>G (p.Leu627Val)
c.1750C>G (p.Leu584Val)
c.1741C>G (p.Leu581Val)
c.1546C>G (p.Leu516Val)
15g.50242376G=CA2176326571HDCc.1873C= (p.Leu625=)
c.1774C= (p.Leu592=)
n.1617C=
c.1636C= (p.Leu546=)
c.1441C= (p.Leu481=)
c.1978C= (p.Leu660=)
c.1879C= (p.Leu627=)
c.1750C= (p.Leu584=)
c.1741C= (p.Leu581=)
c.1546C= (p.Leu516=)
15g.50242376G>TCA392376889HDCc.1873C>A (p.Leu625Met)
c.1774C>A (p.Leu592Met)
n.1617C>A
c.1636C>A (p.Leu546Met)
c.1441C>A (p.Leu481Met)
c.1978C>A (p.Leu660Met)
c.1879C>A (p.Leu627Met)
c.1750C>A (p.Leu584Met)
c.1741C>A (p.Leu581Met)
c.1546C>A (p.Leu516Met)
15g.50242376_50242379delinsGCATCA2176326570HDCc.1870_1873delinsATGC (p.Met624=)
c.1771_1774delinsATGC (p.Met591=)
n.1614_1617delinsATGC
c.1633_1636delinsATGC (p.Met545=)
c.1438_1441delinsATGC (p.Met480=)
c.1975_1978delinsATGC (p.Met659=)
c.1876_1879delinsATGC (p.Met626=)
c.1747_1750delinsATGC (p.Met583=)
c.1738_1741delinsATGC (p.Met580=)
c.1543_1546delinsATGC (p.Met515=)
15g.50242377C>ACA7554479HDCc.1872G>T (p.Met624Ile)
c.1773G>T (p.Met591Ile)
n.1616G>T
c.1635G>T (p.Met545Ile)
c.1440G>T (p.Met480Ile)
c.1977G>T (p.Met659Ile)
c.1878G>T (p.Met626Ile)
c.1749G>T (p.Met583Ile)
c.1740G>T (p.Met580Ile)
c.1545G>T (p.Met515Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242377C=CA2176326573HDCc.1872G= (p.Met624=)
c.1773G= (p.Met591=)
n.1616G=
c.1635G= (p.Met545=)
c.1440G= (p.Met480=)
c.1977G= (p.Met659=)
c.1878G= (p.Met626=)
c.1749G= (p.Met583=)
c.1740G= (p.Met580=)
c.1545G= (p.Met515=)
15g.50242377C>GCA392376890HDCc.1872G>C (p.Met624Ile)
c.1773G>C (p.Met591Ile)
n.1616G>C
c.1635G>C (p.Met545Ile)
c.1440G>C (p.Met480Ile)
c.1977G>C (p.Met659Ile)
c.1878G>C (p.Met626Ile)
c.1749G>C (p.Met583Ile)
c.1740G>C (p.Met580Ile)
c.1545G>C (p.Met515Ile)
15g.50242377C>TCA392376891HDCc.1872G>A (p.Met624Ile)
c.1773G>A (p.Met591Ile)
n.1616G>A
c.1635G>A (p.Met545Ile)
c.1440G>A (p.Met480Ile)
c.1977G>A (p.Met659Ile)
c.1878G>A (p.Met626Ile)
c.1749G>A (p.Met583Ile)
c.1740G>A (p.Met580Ile)
c.1545G>A (p.Met515Ile)
gnomAD v4
15g.50242383_50242385delCA2176326572HDCc.1870_1872del (p.Met624del)
c.1771_1773del (p.Met591del)
n.1614_1616del
c.1633_1635del (p.Met545del)
c.1438_1440del (p.Met480del)
c.1975_1977del (p.Met659del)
c.1876_1878del (p.Met626del)
c.1747_1749del (p.Met583del)
c.1738_1740del (p.Met580del)
c.1543_1545del (p.Met515del)
dbSNP
15g.50242378A>CCA392376892HDCc.1871T>G (p.Met624Arg)
c.1772T>G (p.Met591Arg)
n.1615T>G
c.1634T>G (p.Met545Arg)
c.1439T>G (p.Met480Arg)
c.1976T>G (p.Met659Arg)
c.1877T>G (p.Met626Arg)
c.1748T>G (p.Met583Arg)
c.1739T>G (p.Met580Arg)
c.1544T>G (p.Met515Arg)
15g.50242378A>GCA392376893HDCc.1871T>C (p.Met624Thr)
c.1772T>C (p.Met591Thr)
n.1615T>C
c.1634T>C (p.Met545Thr)
c.1439T>C (p.Met480Thr)
c.1976T>C (p.Met659Thr)
c.1877T>C (p.Met626Thr)
c.1748T>C (p.Met583Thr)
c.1739T>C (p.Met580Thr)
c.1544T>C (p.Met515Thr)
15g.50242378A>TCA392376894HDCc.1871T>A (p.Met624Lys)
c.1772T>A (p.Met591Lys)
n.1615T>A
c.1634T>A (p.Met545Lys)
c.1439T>A (p.Met480Lys)
c.1976T>A (p.Met659Lys)
c.1877T>A (p.Met626Lys)
c.1748T>A (p.Met583Lys)
c.1739T>A (p.Met580Lys)
c.1544T>A (p.Met515Lys)
15g.50242379T>ACA392376895HDCc.1870A>T (p.Met624Leu)
c.1771A>T (p.Met591Leu)
n.1614A>T
c.1633A>T (p.Met545Leu)
c.1438A>T (p.Met480Leu)
c.1975A>T (p.Met659Leu)
c.1876A>T (p.Met626Leu)
c.1747A>T (p.Met583Leu)
c.1738A>T (p.Met580Leu)
c.1543A>T (p.Met515Leu)
gnomAD v4
15g.50242379T>CCA392376896HDCc.1870A>G (p.Met624Val)
c.1771A>G (p.Met591Val)
n.1614A>G
c.1633A>G (p.Met545Val)
c.1438A>G (p.Met480Val)
c.1975A>G (p.Met659Val)
c.1876A>G (p.Met626Val)
c.1747A>G (p.Met583Val)
c.1738A>G (p.Met580Val)
c.1543A>G (p.Met515Val)
15g.50242379T>GCA7554480HDCc.1870A>C (p.Met624Leu)
c.1771A>C (p.Met591Leu)
n.1614A>C
c.1633A>C (p.Met545Leu)
c.1438A>C (p.Met480Leu)
c.1975A>C (p.Met659Leu)
c.1876A>C (p.Met626Leu)
c.1747A>C (p.Met583Leu)
c.1738A>C (p.Met580Leu)
c.1543A>C (p.Met515Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242379T=CA2176326574HDCc.1870A= (p.Met624=)
c.1771A= (p.Met591=)
n.1614A=
c.1633A= (p.Met545=)
c.1438A= (p.Met480=)
c.1975A= (p.Met659=)
c.1876A= (p.Met626=)
c.1747A= (p.Met583=)
c.1738A= (p.Met580=)
c.1543A= (p.Met515=)
15g.50242380C>ACA392376897HDCc.1869G>T (p.Met623Ile)
c.1770G>T (p.Met590Ile)
n.1613G>T
c.1632G>T (p.Met544Ile)
c.1437G>T (p.Met479Ile)
c.1974G>T (p.Met658Ile)
c.1875G>T (p.Met625Ile)
c.1746G>T (p.Met582Ile)
c.1737G>T (p.Met579Ile)
c.1542G>T (p.Met514Ile)
COSMIC
15g.50242380C>GCA392376898HDCc.1869G>C (p.Met623Ile)
c.1770G>C (p.Met590Ile)
n.1613G>C
c.1632G>C (p.Met544Ile)
c.1437G>C (p.Met479Ile)
c.1974G>C (p.Met658Ile)
c.1875G>C (p.Met625Ile)
c.1746G>C (p.Met582Ile)
c.1737G>C (p.Met579Ile)
c.1542G>C (p.Met514Ile)
15g.50242380C>TCA392376899HDCc.1869G>A (p.Met623Ile)
c.1770G>A (p.Met590Ile)
n.1613G>A
c.1632G>A (p.Met544Ile)
c.1437G>A (p.Met479Ile)
c.1974G>A (p.Met658Ile)
c.1875G>A (p.Met625Ile)
c.1746G>A (p.Met582Ile)
c.1737G>A (p.Met579Ile)
c.1542G>A (p.Met514Ile)
15g.50242381A>CCA392376900HDCc.1868T>G (p.Met623Arg)
c.1769T>G (p.Met590Arg)
n.1612T>G
c.1631T>G (p.Met544Arg)
c.1436T>G (p.Met479Arg)
c.1973T>G (p.Met658Arg)
c.1874T>G (p.Met625Arg)
c.1745T>G (p.Met582Arg)
c.1736T>G (p.Met579Arg)
c.1541T>G (p.Met514Arg)
15g.50242381A>GCA392376901HDCc.1868T>C (p.Met623Thr)
c.1769T>C (p.Met590Thr)
n.1612T>C
c.1631T>C (p.Met544Thr)
c.1436T>C (p.Met479Thr)
c.1973T>C (p.Met658Thr)
c.1874T>C (p.Met625Thr)
c.1745T>C (p.Met582Thr)
c.1736T>C (p.Met579Thr)
c.1541T>C (p.Met514Thr)
15g.50242381A>TCA392376902HDCc.1868T>A (p.Met623Lys)
c.1769T>A (p.Met590Lys)
n.1612T>A
c.1631T>A (p.Met544Lys)
c.1436T>A (p.Met479Lys)
c.1973T>A (p.Met658Lys)
c.1874T>A (p.Met625Lys)
c.1745T>A (p.Met582Lys)
c.1736T>A (p.Met579Lys)
c.1541T>A (p.Met514Lys)
15g.50242382T>ACA392376903HDCc.1867A>T (p.Met623Leu)
c.1768A>T (p.Met590Leu)
n.1611A>T
c.1630A>T (p.Met544Leu)
c.1435A>T (p.Met479Leu)
c.1972A>T (p.Met658Leu)
c.1873A>T (p.Met625Leu)
c.1744A>T (p.Met582Leu)
c.1735A>T (p.Met579Leu)
c.1540A>T (p.Met514Leu)
15g.50242382T>CCA392376904HDCc.1867A>G (p.Met623Val)
c.1768A>G (p.Met590Val)
n.1611A>G
c.1630A>G (p.Met544Val)
c.1435A>G (p.Met479Val)
c.1972A>G (p.Met658Val)
c.1873A>G (p.Met625Val)
c.1744A>G (p.Met582Val)
c.1735A>G (p.Met579Val)
c.1540A>G (p.Met514Val)
15g.50242382T>GCA392376905HDCc.1867A>C (p.Met623Leu)
c.1768A>C (p.Met590Leu)
n.1611A>C
c.1630A>C (p.Met544Leu)
c.1435A>C (p.Met479Leu)
c.1972A>C (p.Met658Leu)
c.1873A>C (p.Met625Leu)
c.1744A>C (p.Met582Leu)
c.1735A>C (p.Met579Leu)
c.1540A>C (p.Met514Leu)
15g.50242383C>ACA392376906HDCc.1866G>T (p.Met622Ile)
c.1767G>T (p.Met589Ile)
n.1610G>T
c.1629G>T (p.Met543Ile)
c.1434G>T (p.Met478Ile)
c.1971G>T (p.Met657Ile)
c.1872G>T (p.Met624Ile)
c.1743G>T (p.Met581Ile)
c.1734G>T (p.Met578Ile)
c.1539G>T (p.Met513Ile)
15g.50242383C>GCA392376907HDCc.1866G>C (p.Met622Ile)
c.1767G>C (p.Met589Ile)
n.1610G>C
c.1629G>C (p.Met543Ile)
c.1434G>C (p.Met478Ile)
c.1971G>C (p.Met657Ile)
c.1872G>C (p.Met624Ile)
c.1743G>C (p.Met581Ile)
c.1734G>C (p.Met578Ile)
c.1539G>C (p.Met513Ile)
15g.50242383C>TCA392376908HDCc.1866G>A (p.Met622Ile)
c.1767G>A (p.Met589Ile)
n.1610G>A
c.1629G>A (p.Met543Ile)
c.1434G>A (p.Met478Ile)
c.1971G>A (p.Met657Ile)
c.1872G>A (p.Met624Ile)
c.1743G>A (p.Met581Ile)
c.1734G>A (p.Met578Ile)
c.1539G>A (p.Met513Ile)
gnomAD v4
15g.50242384A=CA2176326575HDCc.1865T= (p.Met622=)
c.1766T= (p.Met589=)
n.1609T=
c.1628T= (p.Met543=)
c.1433T= (p.Met478=)
c.1970T= (p.Met657=)
c.1871T= (p.Met624=)
c.1742T= (p.Met581=)
c.1733T= (p.Met578=)
c.1538T= (p.Met513=)
15g.50242384A>CCA392376909HDCc.1865T>G (p.Met622Arg)
c.1766T>G (p.Met589Arg)
n.1609T>G
c.1628T>G (p.Met543Arg)
c.1433T>G (p.Met478Arg)
c.1970T>G (p.Met657Arg)
c.1871T>G (p.Met624Arg)
c.1742T>G (p.Met581Arg)
c.1733T>G (p.Met578Arg)
c.1538T>G (p.Met513Arg)
15g.50242384A>GCA7554481HDCc.1865T>C (p.Met622Thr)
c.1766T>C (p.Met589Thr)
n.1609T>C
c.1628T>C (p.Met543Thr)
c.1433T>C (p.Met478Thr)
c.1970T>C (p.Met657Thr)
c.1871T>C (p.Met624Thr)
c.1742T>C (p.Met581Thr)
c.1733T>C (p.Met578Thr)
c.1538T>C (p.Met513Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242384A>TCA7554482HDCc.1865T>A (p.Met622Lys)
c.1766T>A (p.Met589Lys)
n.1609T>A
c.1628T>A (p.Met543Lys)
c.1433T>A (p.Met478Lys)
c.1970T>A (p.Met657Lys)
c.1871T>A (p.Met624Lys)
c.1742T>A (p.Met581Lys)
c.1733T>A (p.Met578Lys)
c.1538T>A (p.Met513Lys)
dbSNP ExAC gnomAD v2
15g.50242385T>ACA392376910HDCc.1864A>T (p.Met622Leu)
c.1765A>T (p.Met589Leu)
n.1608A>T
c.1627A>T (p.Met543Leu)
c.1432A>T (p.Met478Leu)
c.1969A>T (p.Met657Leu)
c.1870A>T (p.Met624Leu)
c.1741A>T (p.Met581Leu)
c.1732A>T (p.Met578Leu)
c.1537A>T (p.Met513Leu)
15g.50242385T>CCA392376911HDCc.1864A>G (p.Met622Val)
c.1765A>G (p.Met589Val)
n.1608A>G
c.1627A>G (p.Met543Val)
c.1432A>G (p.Met478Val)
c.1969A>G (p.Met657Val)
c.1870A>G (p.Met624Val)
c.1741A>G (p.Met581Val)
c.1732A>G (p.Met578Val)
c.1537A>G (p.Met513Val)
15g.50242385T>GCA392376912HDCc.1864A>C (p.Met622Leu)
c.1765A>C (p.Met589Leu)
n.1608A>C
c.1627A>C (p.Met543Leu)
c.1432A>C (p.Met478Leu)
c.1969A>C (p.Met657Leu)
c.1870A>C (p.Met624Leu)
c.1741A>C (p.Met581Leu)
c.1732A>C (p.Met578Leu)
c.1537A>C (p.Met513Leu)
15g.50242386G>ACA490313982HDCc.1863C>T (p.Asp621=)
c.1764C>T (p.Asp588=)
n.1607C>T
c.1626C>T (p.Asp542=)
c.1431C>T (p.Asp477=)
c.1968C>T (p.Asp656=)
c.1869C>T (p.Asp623=)
c.1740C>T (p.Asp580=)
c.1731C>T (p.Asp577=)
c.1536C>T (p.Asp512=)
gnomAD v4
15g.50242386G>CCA392376913HDCc.1863C>G (p.Asp621Glu)
c.1764C>G (p.Asp588Glu)
n.1607C>G
c.1626C>G (p.Asp542Glu)
c.1431C>G (p.Asp477Glu)
c.1968C>G (p.Asp656Glu)
c.1869C>G (p.Asp623Glu)
c.1740C>G (p.Asp580Glu)
c.1731C>G (p.Asp577Glu)
c.1536C>G (p.Asp512Glu)
dbSNP
15g.50242386G>TCA392376914HDCc.1863C>A (p.Asp621Glu)
c.1764C>A (p.Asp588Glu)
n.1607C>A
c.1626C>A (p.Asp542Glu)
c.1431C>A (p.Asp477Glu)
c.1968C>A (p.Asp656Glu)
c.1869C>A (p.Asp623Glu)
c.1740C>A (p.Asp580Glu)
c.1731C>A (p.Asp577Glu)
c.1536C>A (p.Asp512Glu)
15g.50242387T>ACA392376917HDCc.1862A>T (p.Asp621Val)
c.1763A>T (p.Asp588Val)
n.1606A>T
c.1625A>T (p.Asp542Val)
c.1430A>T (p.Asp477Val)
c.1967A>T (p.Asp656Val)
c.1868A>T (p.Asp623Val)
c.1739A>T (p.Asp580Val)
c.1730A>T (p.Asp577Val)
c.1535A>T (p.Asp512Val)
15g.50242387T>CCA392376915HDCc.1862A>G (p.Asp621Gly)
c.1763A>G (p.Asp588Gly)
n.1606A>G
c.1625A>G (p.Asp542Gly)
c.1430A>G (p.Asp477Gly)
c.1967A>G (p.Asp656Gly)
c.1868A>G (p.Asp623Gly)
c.1739A>G (p.Asp580Gly)
c.1730A>G (p.Asp577Gly)
c.1535A>G (p.Asp512Gly)
15g.50242387T>GCA392376916HDCc.1862A>C (p.Asp621Ala)
c.1763A>C (p.Asp588Ala)
n.1606A>C
c.1625A>C (p.Asp542Ala)
c.1430A>C (p.Asp477Ala)
c.1967A>C (p.Asp656Ala)
c.1868A>C (p.Asp623Ala)
c.1739A>C (p.Asp580Ala)
c.1730A>C (p.Asp577Ala)
c.1535A>C (p.Asp512Ala)
15g.50242388C>ACA392376918HDCc.1861G>T (p.Asp621Tyr)
c.1762G>T (p.Asp588Tyr)
n.1605G>T
c.1624G>T (p.Asp542Tyr)
c.1429G>T (p.Asp477Tyr)
c.1966G>T (p.Asp656Tyr)
c.1867G>T (p.Asp623Tyr)
c.1738G>T (p.Asp580Tyr)
c.1729G>T (p.Asp577Tyr)
c.1534G>T (p.Asp512Tyr)
15g.50242388C>GCA392376919HDCc.1861G>C (p.Asp621His)
c.1762G>C (p.Asp588His)
n.1605G>C
c.1624G>C (p.Asp542His)
c.1429G>C (p.Asp477His)
c.1966G>C (p.Asp656His)
c.1867G>C (p.Asp623His)
c.1738G>C (p.Asp580His)
c.1729G>C (p.Asp577His)
c.1534G>C (p.Asp512His)
gnomAD v4
15g.50242388C>TCA392376920HDCc.1861G>A (p.Asp621Asn)
c.1762G>A (p.Asp588Asn)
n.1605G>A
c.1624G>A (p.Asp542Asn)
c.1429G>A (p.Asp477Asn)
c.1966G>A (p.Asp656Asn)
c.1867G>A (p.Asp623Asn)
c.1738G>A (p.Asp580Asn)
c.1729G>A (p.Asp577Asn)
c.1534G>A (p.Asp512Asn)
15g.50242389T>ACA392376921HDCc.1860A>T (p.Glu620Asp)
c.1761A>T (p.Glu587Asp)
n.1604A>T
c.1623A>T (p.Glu541Asp)
c.1428A>T (p.Glu476Asp)
c.1965A>T (p.Glu655Asp)
c.1866A>T (p.Glu622Asp)
c.1737A>T (p.Glu579Asp)
c.1728A>T (p.Glu576Asp)
c.1533A>T (p.Glu511Asp)
15g.50242389T>CCA490313985HDCc.1860A>G (p.Glu620=)
c.1761A>G (p.Glu587=)
n.1604A>G
c.1623A>G (p.Glu541=)
c.1428A>G (p.Glu476=)
c.1965A>G (p.Glu655=)
c.1866A>G (p.Glu622=)
c.1737A>G (p.Glu579=)
c.1728A>G (p.Glu576=)
c.1533A>G (p.Glu511=)
15g.50242389T>GCA392376922HDCc.1860A>C (p.Glu620Asp)
c.1761A>C (p.Glu587Asp)
n.1604A>C
c.1623A>C (p.Glu541Asp)
c.1428A>C (p.Glu476Asp)
c.1965A>C (p.Glu655Asp)
c.1866A>C (p.Glu622Asp)
c.1737A>C (p.Glu579Asp)
c.1728A>C (p.Glu576Asp)
c.1533A>C (p.Glu511Asp)
15g.50242390T>ACA392376925HDCc.1859A>T (p.Glu620Val)
c.1760A>T (p.Glu587Val)
n.1603A>T
c.1622A>T (p.Glu541Val)
c.1427A>T (p.Glu476Val)
c.1964A>T (p.Glu655Val)
c.1865A>T (p.Glu622Val)
c.1736A>T (p.Glu579Val)
c.1727A>T (p.Glu576Val)
c.1532A>T (p.Glu511Val)
15g.50242390T>CCA392376924HDCc.1859A>G (p.Glu620Gly)
c.1760A>G (p.Glu587Gly)
n.1603A>G
c.1622A>G (p.Glu541Gly)
c.1427A>G (p.Glu476Gly)
c.1964A>G (p.Glu655Gly)
c.1865A>G (p.Glu622Gly)
c.1736A>G (p.Glu579Gly)
c.1727A>G (p.Glu576Gly)
c.1532A>G (p.Glu511Gly)
15g.50242390T>GCA392376923HDCc.1859A>C (p.Glu620Ala)
c.1760A>C (p.Glu587Ala)
n.1603A>C
c.1622A>C (p.Glu541Ala)
c.1427A>C (p.Glu476Ala)
c.1964A>C (p.Glu655Ala)
c.1865A>C (p.Glu622Ala)
c.1736A>C (p.Glu579Ala)
c.1727A>C (p.Glu576Ala)
c.1532A>C (p.Glu511Ala)
15g.50242391C>ACA392376926HDCc.1858G>T (p.Glu620Ter)
c.1759G>T (p.Glu587Ter)
n.1602G>T
c.1621G>T (p.Glu541Ter)
c.1426G>T (p.Glu476Ter)
c.1963G>T (p.Glu655Ter)
c.1864G>T (p.Glu622Ter)
c.1735G>T (p.Glu579Ter)
c.1726G>T (p.Glu576Ter)
c.1531G>T (p.Glu511Ter)
15g.50242391C>GCA392376928HDCc.1858G>C (p.Glu620Gln)
c.1759G>C (p.Glu587Gln)
n.1602G>C
c.1621G>C (p.Glu541Gln)
c.1426G>C (p.Glu476Gln)
c.1963G>C (p.Glu655Gln)
c.1864G>C (p.Glu622Gln)
c.1735G>C (p.Glu579Gln)
c.1726G>C (p.Glu576Gln)
c.1531G>C (p.Glu511Gln)
15g.50242391C>TCA392376927HDCc.1858G>A (p.Glu620Lys)
c.1759G>A (p.Glu587Lys)
n.1602G>A
c.1621G>A (p.Glu541Lys)
c.1426G>A (p.Glu476Lys)
c.1963G>A (p.Glu655Lys)
c.1864G>A (p.Glu622Lys)
c.1735G>A (p.Glu579Lys)
c.1726G>A (p.Glu576Lys)
c.1531G>A (p.Glu511Lys)
15g.50242392T>ACA490313989HDCc.1857A>T (p.Pro619=)
c.1758A>T (p.Pro586=)
n.1601A>T
c.1620A>T (p.Pro540=)
c.1425A>T (p.Pro475=)
c.1962A>T (p.Pro654=)
c.1863A>T (p.Pro621=)
c.1734A>T (p.Pro578=)
c.1725A>T (p.Pro575=)
c.1530A>T (p.Pro510=)
15g.50242392T>CCA490313990HDCc.1857A>G (p.Pro619=)
c.1758A>G (p.Pro586=)
n.1601A>G
c.1620A>G (p.Pro540=)
c.1425A>G (p.Pro475=)
c.1962A>G (p.Pro654=)
c.1863A>G (p.Pro621=)
c.1734A>G (p.Pro578=)
c.1725A>G (p.Pro575=)
c.1530A>G (p.Pro510=)
15g.50242392T>GCA490313991HDCc.1857A>C (p.Pro619=)
c.1758A>C (p.Pro586=)
n.1601A>C
c.1620A>C (p.Pro540=)
c.1425A>C (p.Pro475=)
c.1962A>C (p.Pro654=)
c.1863A>C (p.Pro621=)
c.1734A>C (p.Pro578=)
c.1725A>C (p.Pro575=)
c.1530A>C (p.Pro510=)
15g.50242393G>ACA392376929HDCc.1856C>T (p.Pro619Leu)
c.1757C>T (p.Pro586Leu)
n.1600C>T
c.1619C>T (p.Pro540Leu)
c.1424C>T (p.Pro475Leu)
c.1961C>T (p.Pro654Leu)
c.1862C>T (p.Pro621Leu)
c.1733C>T (p.Pro578Leu)
c.1724C>T (p.Pro575Leu)
c.1529C>T (p.Pro510Leu)
15g.50242393G>CCA392376930HDCc.1856C>G (p.Pro619Arg)
c.1757C>G (p.Pro586Arg)
n.1600C>G
c.1619C>G (p.Pro540Arg)
c.1424C>G (p.Pro475Arg)
c.1961C>G (p.Pro654Arg)
c.1862C>G (p.Pro621Arg)
c.1733C>G (p.Pro578Arg)
c.1724C>G (p.Pro575Arg)
c.1529C>G (p.Pro510Arg)
15g.50242393G>TCA392376931HDCc.1856C>A (p.Pro619Gln)
c.1757C>A (p.Pro586Gln)
n.1600C>A
c.1619C>A (p.Pro540Gln)
c.1424C>A (p.Pro475Gln)
c.1961C>A (p.Pro654Gln)
c.1862C>A (p.Pro621Gln)
c.1733C>A (p.Pro578Gln)
c.1724C>A (p.Pro575Gln)
c.1529C>A (p.Pro510Gln)
15g.50242394G>ACA392376932HDCc.1855C>T (p.Pro619Ser)
c.1756C>T (p.Pro586Ser)
n.1599C>T
c.1618C>T (p.Pro540Ser)
c.1423C>T (p.Pro475Ser)
c.1960C>T (p.Pro654Ser)
c.1861C>T (p.Pro621Ser)
c.1732C>T (p.Pro578Ser)
c.1723C>T (p.Pro575Ser)
c.1528C>T (p.Pro510Ser)
15g.50242394G>CCA392376933HDCc.1855C>G (p.Pro619Ala)
c.1756C>G (p.Pro586Ala)
n.1599C>G
c.1618C>G (p.Pro540Ala)
c.1423C>G (p.Pro475Ala)
c.1960C>G (p.Pro654Ala)
c.1861C>G (p.Pro621Ala)
c.1732C>G (p.Pro578Ala)
c.1723C>G (p.Pro575Ala)
c.1528C>G (p.Pro510Ala)
15g.50242394G>TCA392376934HDCc.1855C>A (p.Pro619Thr)
c.1756C>A (p.Pro586Thr)
n.1599C>A
c.1618C>A (p.Pro540Thr)
c.1423C>A (p.Pro475Thr)
c.1960C>A (p.Pro654Thr)
c.1861C>A (p.Pro621Thr)
c.1732C>A (p.Pro578Thr)
c.1723C>A (p.Pro575Thr)
c.1528C>A (p.Pro510Thr)
15g.50242395A>CCA392376935HDCc.1854T>G (p.Phe618Leu)
c.1755T>G (p.Phe585Leu)
n.1598T>G
c.1617T>G (p.Phe539Leu)
c.1422T>G (p.Phe474Leu)
c.1959T>G (p.Phe653Leu)
c.1860T>G (p.Phe620Leu)
c.1731T>G (p.Phe577Leu)
c.1722T>G (p.Phe574Leu)
c.1527T>G (p.Phe509Leu)
15g.50242395A>GCA490313995HDCc.1854T>C (p.Phe618=)
c.1755T>C (p.Phe585=)
n.1598T>C
c.1617T>C (p.Phe539=)
c.1422T>C (p.Phe474=)
c.1959T>C (p.Phe653=)
c.1860T>C (p.Phe620=)
c.1731T>C (p.Phe577=)
c.1722T>C (p.Phe574=)
c.1527T>C (p.Phe509=)
15g.50242395A>TCA392376936HDCc.1854T>A (p.Phe618Leu)
c.1755T>A (p.Phe585Leu)
n.1598T>A
c.1617T>A (p.Phe539Leu)
c.1422T>A (p.Phe474Leu)
c.1959T>A (p.Phe653Leu)
c.1860T>A (p.Phe620Leu)
c.1731T>A (p.Phe577Leu)
c.1722T>A (p.Phe574Leu)
c.1527T>A (p.Phe509Leu)
15g.50242396A>CCA392376937HDCc.1853T>G (p.Phe618Cys)
c.1754T>G (p.Phe585Cys)
n.1597T>G
c.1616T>G (p.Phe539Cys)
c.1421T>G (p.Phe474Cys)
c.1958T>G (p.Phe653Cys)
c.1859T>G (p.Phe620Cys)
c.1730T>G (p.Phe577Cys)
c.1721T>G (p.Phe574Cys)
c.1526T>G (p.Phe509Cys)
15g.50242396A>GCA392376938HDCc.1853T>C (p.Phe618Ser)
c.1754T>C (p.Phe585Ser)
n.1597T>C
c.1616T>C (p.Phe539Ser)
c.1421T>C (p.Phe474Ser)
c.1958T>C (p.Phe653Ser)
c.1859T>C (p.Phe620Ser)
c.1730T>C (p.Phe577Ser)
c.1721T>C (p.Phe574Ser)
c.1526T>C (p.Phe509Ser)
15g.50242396A>TCA392376939HDCc.1853T>A (p.Phe618Tyr)
c.1754T>A (p.Phe585Tyr)
n.1597T>A
c.1616T>A (p.Phe539Tyr)
c.1421T>A (p.Phe474Tyr)
c.1958T>A (p.Phe653Tyr)
c.1859T>A (p.Phe620Tyr)
c.1730T>A (p.Phe577Tyr)
c.1721T>A (p.Phe574Tyr)
c.1526T>A (p.Phe509Tyr)
15g.50242397A>CCA392376942HDCc.1852T>G (p.Phe618Val)
c.1753T>G (p.Phe585Val)
n.1596T>G
c.1615T>G (p.Phe539Val)
c.1420T>G (p.Phe474Val)
c.1957T>G (p.Phe653Val)
c.1858T>G (p.Phe620Val)
c.1729T>G (p.Phe577Val)
c.1720T>G (p.Phe574Val)
c.1525T>G (p.Phe509Val)
15g.50242397A>GCA392376941HDCc.1852T>C (p.Phe618Leu)
c.1753T>C (p.Phe585Leu)
n.1596T>C
c.1615T>C (p.Phe539Leu)
c.1420T>C (p.Phe474Leu)
c.1957T>C (p.Phe653Leu)
c.1858T>C (p.Phe620Leu)
c.1729T>C (p.Phe577Leu)
c.1720T>C (p.Phe574Leu)
c.1525T>C (p.Phe509Leu)
15g.50242397A>TCA392376940HDCc.1852T>A (p.Phe618Ile)
c.1753T>A (p.Phe585Ile)
n.1596T>A
c.1615T>A (p.Phe539Ile)
c.1420T>A (p.Phe474Ile)
c.1957T>A (p.Phe653Ile)
c.1858T>A (p.Phe620Ile)
c.1729T>A (p.Phe577Ile)
c.1720T>A (p.Phe574Ile)
c.1525T>A (p.Phe509Ile)
15g.50242398C>ACA392376943HDCc.1851G>T (p.Arg617Ser)
c.1752G>T (p.Arg584Ser)
n.1595G>T
c.1614G>T (p.Arg538Ser)
c.1419G>T (p.Arg473Ser)
c.1956G>T (p.Arg652Ser)
c.1857G>T (p.Arg619Ser)
c.1728G>T (p.Arg576Ser)
c.1719G>T (p.Arg573Ser)
c.1524G>T (p.Arg508Ser)
15g.50242398C>GCA392376944HDCc.1851G>C (p.Arg617Ser)
c.1752G>C (p.Arg584Ser)
n.1595G>C
c.1614G>C (p.Arg538Ser)
c.1419G>C (p.Arg473Ser)
c.1956G>C (p.Arg652Ser)
c.1857G>C (p.Arg619Ser)
c.1728G>C (p.Arg576Ser)
c.1719G>C (p.Arg573Ser)
c.1524G>C (p.Arg508Ser)
15g.50242398C>TCA490313999HDCc.1851G>A (p.Arg617=)
c.1752G>A (p.Arg584=)
n.1595G>A
c.1614G>A (p.Arg538=)
c.1419G>A (p.Arg473=)
c.1956G>A (p.Arg652=)
c.1857G>A (p.Arg619=)
c.1728G>A (p.Arg576=)
c.1719G>A (p.Arg573=)
c.1524G>A (p.Arg508=)
15g.50242399C>ACA392376945HDCc.1850G>T (p.Arg617Met)
c.1751G>T (p.Arg584Met)
n.1594G>T
c.1613G>T (p.Arg538Met)
c.1418G>T (p.Arg473Met)
c.1955G>T (p.Arg652Met)
c.1856G>T (p.Arg619Met)
c.1727G>T (p.Arg576Met)
c.1718G>T (p.Arg573Met)
c.1523G>T (p.Arg508Met)
15g.50242399C>GCA392376946HDCc.1850G>C (p.Arg617Thr)
c.1751G>C (p.Arg584Thr)
n.1594G>C
c.1613G>C (p.Arg538Thr)
c.1418G>C (p.Arg473Thr)
c.1955G>C (p.Arg652Thr)
c.1856G>C (p.Arg619Thr)
c.1727G>C (p.Arg576Thr)
c.1718G>C (p.Arg573Thr)
c.1523G>C (p.Arg508Thr)
15g.50242399C>TCA392376947HDCc.1850G>A (p.Arg617Lys)
c.1751G>A (p.Arg584Lys)
n.1594G>A
c.1613G>A (p.Arg538Lys)
c.1418G>A (p.Arg473Lys)
c.1955G>A (p.Arg652Lys)
c.1856G>A (p.Arg619Lys)
c.1727G>A (p.Arg576Lys)
c.1718G>A (p.Arg573Lys)
c.1523G>A (p.Arg508Lys)
15g.50242400T>ACA392376948HDCc.1849A>T (p.Arg617Trp)
c.1750A>T (p.Arg584Trp)
n.1593A>T
c.1612A>T (p.Arg538Trp)
c.1417A>T (p.Arg473Trp)
c.1954A>T (p.Arg652Trp)
c.1855A>T (p.Arg619Trp)
c.1726A>T (p.Arg576Trp)
c.1717A>T (p.Arg573Trp)
c.1522A>T (p.Arg508Trp)
15g.50242400T>CCA392376949HDCc.1849A>G (p.Arg617Gly)
c.1750A>G (p.Arg584Gly)
n.1593A>G
c.1612A>G (p.Arg538Gly)
c.1417A>G (p.Arg473Gly)
c.1954A>G (p.Arg652Gly)
c.1855A>G (p.Arg619Gly)
c.1726A>G (p.Arg576Gly)
c.1717A>G (p.Arg573Gly)
c.1522A>G (p.Arg508Gly)
dbSNP
15g.50242400T>GCA490314000HDCc.1849A>C (p.Arg617=)
c.1750A>C (p.Arg584=)
n.1593A>C
c.1612A>C (p.Arg538=)
c.1417A>C (p.Arg473=)
c.1954A>C (p.Arg652=)
c.1855A>C (p.Arg619=)
c.1726A>C (p.Arg576=)
c.1717A>C (p.Arg573=)
c.1522A>C (p.Arg508=)
15g.50242400T=CA2176326576HDCc.1849A= (p.Arg617=)
c.1750A= (p.Arg584=)
n.1593A=
c.1612A= (p.Arg538=)
c.1417A= (p.Arg473=)
c.1954A= (p.Arg652=)
c.1855A= (p.Arg619=)
c.1726A= (p.Arg576=)
c.1717A= (p.Arg573=)
c.1522A= (p.Arg508=)
15g.50242401G>ACA490314001HDCc.1848C>T (p.Ser616=)
c.1749C>T (p.Ser583=)
n.1592C>T
c.1611C>T (p.Ser537=)
c.1416C>T (p.Ser472=)
c.1953C>T (p.Ser651=)
c.1854C>T (p.Ser618=)
c.1725C>T (p.Ser575=)
c.1716C>T (p.Ser572=)
c.1521C>T (p.Ser507=)
15g.50242401G>CCA490314003HDCc.1848C>G (p.Ser616=)
c.1749C>G (p.Ser583=)
n.1592C>G
c.1611C>G (p.Ser537=)
c.1416C>G (p.Ser472=)
c.1953C>G (p.Ser651=)
c.1854C>G (p.Ser618=)
c.1725C>G (p.Ser575=)
c.1716C>G (p.Ser572=)
c.1521C>G (p.Ser507=)
15g.50242401G>TCA490314002HDCc.1848C>A (p.Ser616=)
c.1749C>A (p.Ser583=)
n.1592C>A
c.1611C>A (p.Ser537=)
c.1416C>A (p.Ser472=)
c.1953C>A (p.Ser651=)
c.1854C>A (p.Ser618=)
c.1725C>A (p.Ser575=)
c.1716C>A (p.Ser572=)
c.1521C>A (p.Ser507=)
15g.50242402G>ACA270413845HDCc.1847C>T (p.Ser616Phe)
c.1748C>T (p.Ser583Phe)
n.1591C>T
c.1610C>T (p.Ser537Phe)
c.1415C>T (p.Ser472Phe)
c.1952C>T (p.Ser651Phe)
c.1853C>T (p.Ser618Phe)
c.1724C>T (p.Ser575Phe)
c.1715C>T (p.Ser572Phe)
c.1520C>T (p.Ser507Phe)
dbSNP COSMIC
15g.50242402G>CCA392376950HDCc.1847C>G (p.Ser616Cys)
c.1748C>G (p.Ser583Cys)
n.1591C>G
c.1610C>G (p.Ser537Cys)
c.1415C>G (p.Ser472Cys)
c.1952C>G (p.Ser651Cys)
c.1853C>G (p.Ser618Cys)
c.1724C>G (p.Ser575Cys)
c.1715C>G (p.Ser572Cys)
c.1520C>G (p.Ser507Cys)
15g.50242402G=CA2176326577HDCc.1847C= (p.Ser616=)
c.1748C= (p.Ser583=)
n.1591C=
c.1610C= (p.Ser537=)
c.1415C= (p.Ser472=)
c.1952C= (p.Ser651=)
c.1853C= (p.Ser618=)
c.1724C= (p.Ser575=)
c.1715C= (p.Ser572=)
c.1520C= (p.Ser507=)
15g.50242402G>TCA392376951HDCc.1847C>A (p.Ser616Tyr)
c.1748C>A (p.Ser583Tyr)
n.1591C>A
c.1610C>A (p.Ser537Tyr)
c.1415C>A (p.Ser472Tyr)
c.1952C>A (p.Ser651Tyr)
c.1853C>A (p.Ser618Tyr)
c.1724C>A (p.Ser575Tyr)
c.1715C>A (p.Ser572Tyr)
c.1520C>A (p.Ser507Tyr)
15g.50242403A=CA2176326578HDCc.1846T= (p.Ser616=)
c.1747T= (p.Ser583=)
n.1590T=
c.1609T= (p.Ser537=)
c.1414T= (p.Ser472=)
c.1951T= (p.Ser651=)
c.1852T= (p.Ser618=)
c.1723T= (p.Ser575=)
c.1714T= (p.Ser572=)
c.1519T= (p.Ser507=)
15g.50242403A>CCA7554483HDCc.1846T>G (p.Ser616Ala)
c.1747T>G (p.Ser583Ala)
n.1590T>G
c.1609T>G (p.Ser537Ala)
c.1414T>G (p.Ser472Ala)
c.1951T>G (p.Ser651Ala)
c.1852T>G (p.Ser618Ala)
c.1723T>G (p.Ser575Ala)
c.1714T>G (p.Ser572Ala)
c.1519T>G (p.Ser507Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242403A>GCA392376952HDCc.1846T>C (p.Ser616Pro)
c.1747T>C (p.Ser583Pro)
n.1590T>C
c.1609T>C (p.Ser537Pro)
c.1414T>C (p.Ser472Pro)
c.1951T>C (p.Ser651Pro)
c.1852T>C (p.Ser618Pro)
c.1723T>C (p.Ser575Pro)
c.1714T>C (p.Ser572Pro)
c.1519T>C (p.Ser507Pro)
15g.50242403A>TCA392376953HDCc.1846T>A (p.Ser616Thr)
c.1747T>A (p.Ser583Thr)
n.1590T>A
c.1609T>A (p.Ser537Thr)
c.1414T>A (p.Ser472Thr)
c.1951T>A (p.Ser651Thr)
c.1852T>A (p.Ser618Thr)
c.1723T>A (p.Ser575Thr)
c.1714T>A (p.Ser572Thr)
c.1519T>A (p.Ser507Thr)
15g.50242404A>CCA392376954HDCc.1845T>G (p.Phe615Leu)
c.1746T>G (p.Phe582Leu)
n.1589T>G
c.1608T>G (p.Phe536Leu)
c.1413T>G (p.Phe471Leu)
c.1950T>G (p.Phe650Leu)
c.1851T>G (p.Phe617Leu)
c.1722T>G (p.Phe574Leu)
c.1713T>G (p.Phe571Leu)
c.1518T>G (p.Phe506Leu)
15g.50242404A>GCA490314005HDCc.1845T>C (p.Phe615=)
c.1746T>C (p.Phe582=)
n.1589T>C
c.1608T>C (p.Phe536=)
c.1413T>C (p.Phe471=)
c.1950T>C (p.Phe650=)
c.1851T>C (p.Phe617=)
c.1722T>C (p.Phe574=)
c.1713T>C (p.Phe571=)
c.1518T>C (p.Phe506=)
gnomAD v4
15g.50242404A>TCA392376955HDCc.1845T>A (p.Phe615Leu)
c.1746T>A (p.Phe582Leu)
n.1589T>A
c.1608T>A (p.Phe536Leu)
c.1413T>A (p.Phe471Leu)
c.1950T>A (p.Phe650Leu)
c.1851T>A (p.Phe617Leu)
c.1722T>A (p.Phe574Leu)
c.1713T>A (p.Phe571Leu)
c.1518T>A (p.Phe506Leu)
15g.50242405A>CCA392376956HDCc.1844T>G (p.Phe615Cys)
c.1745T>G (p.Phe582Cys)
n.1588T>G
c.1607T>G (p.Phe536Cys)
c.1412T>G (p.Phe471Cys)
c.1949T>G (p.Phe650Cys)
c.1850T>G (p.Phe617Cys)
c.1721T>G (p.Phe574Cys)
c.1712T>G (p.Phe571Cys)
c.1517T>G (p.Phe506Cys)
15g.50242405A>GCA392376957HDCc.1844T>C (p.Phe615Ser)
c.1745T>C (p.Phe582Ser)
n.1588T>C
c.1607T>C (p.Phe536Ser)
c.1412T>C (p.Phe471Ser)
c.1949T>C (p.Phe650Ser)
c.1850T>C (p.Phe617Ser)
c.1721T>C (p.Phe574Ser)
c.1712T>C (p.Phe571Ser)
c.1517T>C (p.Phe506Ser)
15g.50242405A>TCA392376958HDCc.1844T>A (p.Phe615Tyr)
c.1745T>A (p.Phe582Tyr)
n.1588T>A
c.1607T>A (p.Phe536Tyr)
c.1412T>A (p.Phe471Tyr)
c.1949T>A (p.Phe650Tyr)
c.1850T>A (p.Phe617Tyr)
c.1721T>A (p.Phe574Tyr)
c.1712T>A (p.Phe571Tyr)
c.1517T>A (p.Phe506Tyr)
15g.50242406A>CCA392376959HDCc.1843T>G (p.Phe615Val)
c.1744T>G (p.Phe582Val)
n.1587T>G
c.1606T>G (p.Phe536Val)
c.1411T>G (p.Phe471Val)
c.1948T>G (p.Phe650Val)
c.1849T>G (p.Phe617Val)
c.1720T>G (p.Phe574Val)
c.1711T>G (p.Phe571Val)
c.1516T>G (p.Phe506Val)
15g.50242406A>GCA392376960HDCc.1843T>C (p.Phe615Leu)
c.1744T>C (p.Phe582Leu)
n.1587T>C
c.1606T>C (p.Phe536Leu)
c.1411T>C (p.Phe471Leu)
c.1948T>C (p.Phe650Leu)
c.1849T>C (p.Phe617Leu)
c.1720T>C (p.Phe574Leu)
c.1711T>C (p.Phe571Leu)
c.1516T>C (p.Phe506Leu)
15g.50242406A>TCA392376961HDCc.1843T>A (p.Phe615Ile)
c.1744T>A (p.Phe582Ile)
n.1587T>A
c.1606T>A (p.Phe536Ile)
c.1411T>A (p.Phe471Ile)
c.1948T>A (p.Phe650Ile)
c.1849T>A (p.Phe617Ile)
c.1720T>A (p.Phe574Ile)
c.1711T>A (p.Phe571Ile)
c.1516T>A (p.Phe506Ile)
15g.50242407G>ACA490314006HDCc.1842C>T (p.Ile614=)
c.1743C>T (p.Ile581=)
n.1586C>T
c.1605C>T (p.Ile535=)
c.1410C>T (p.Ile470=)
c.1947C>T (p.Ile649=)
c.1848C>T (p.Ile616=)
c.1719C>T (p.Ile573=)
c.1710C>T (p.Ile570=)
c.1515C>T (p.Ile505=)
dbSNP gnomAD v4
15g.50242407G>CCA392376962HDCc.1842C>G (p.Ile614Met)
c.1743C>G (p.Ile581Met)
n.1586C>G
c.1605C>G (p.Ile535Met)
c.1410C>G (p.Ile470Met)
c.1947C>G (p.Ile649Met)
c.1848C>G (p.Ile616Met)
c.1719C>G (p.Ile573Met)
c.1710C>G (p.Ile570Met)
c.1515C>G (p.Ile505Met)
15g.50242407G=CA2176326579HDCc.1842C= (p.Ile614=)
c.1743C= (p.Ile581=)
n.1586C=
c.1605C= (p.Ile535=)
c.1410C= (p.Ile470=)
c.1947C= (p.Ile649=)
c.1848C= (p.Ile616=)
c.1719C= (p.Ile573=)
c.1710C= (p.Ile570=)
c.1515C= (p.Ile505=)
15g.50242407G>TCA490314008HDCc.1842C>A (p.Ile614=)
c.1743C>A (p.Ile581=)
n.1586C>A
c.1605C>A (p.Ile535=)
c.1410C>A (p.Ile470=)
c.1947C>A (p.Ile649=)
c.1848C>A (p.Ile616=)
c.1719C>A (p.Ile573=)
c.1710C>A (p.Ile570=)
c.1515C>A (p.Ile505=)
15g.50242408A=CA2176326580HDCc.1841T= (p.Ile614=)
c.1742T= (p.Ile581=)
n.1585T=
c.1604T= (p.Ile535=)
c.1409T= (p.Ile470=)
c.1946T= (p.Ile649=)
c.1847T= (p.Ile616=)
c.1718T= (p.Ile573=)
c.1709T= (p.Ile570=)
c.1514T= (p.Ile505=)
15g.50242408A>CCA392376963HDCc.1841T>G (p.Ile614Ser)
c.1742T>G (p.Ile581Ser)
n.1585T>G
c.1604T>G (p.Ile535Ser)
c.1409T>G (p.Ile470Ser)
c.1946T>G (p.Ile649Ser)
c.1847T>G (p.Ile616Ser)
c.1718T>G (p.Ile573Ser)
c.1709T>G (p.Ile570Ser)
c.1514T>G (p.Ile505Ser)
dbSNP
15g.50242408A>GCA392376964HDCc.1841T>C (p.Ile614Thr)
c.1742T>C (p.Ile581Thr)
n.1585T>C
c.1604T>C (p.Ile535Thr)
c.1409T>C (p.Ile470Thr)
c.1946T>C (p.Ile649Thr)
c.1847T>C (p.Ile616Thr)
c.1718T>C (p.Ile573Thr)
c.1709T>C (p.Ile570Thr)
c.1514T>C (p.Ile505Thr)
15g.50242408A>TCA392376965HDCc.1841T>A (p.Ile614Asn)
c.1742T>A (p.Ile581Asn)
n.1585T>A
c.1604T>A (p.Ile535Asn)
c.1409T>A (p.Ile470Asn)
c.1946T>A (p.Ile649Asn)
c.1847T>A (p.Ile616Asn)
c.1718T>A (p.Ile573Asn)
c.1709T>A (p.Ile570Asn)
c.1514T>A (p.Ile505Asn)
15g.50242409T>ACA392376966HDCc.1840A>T (p.Ile614Phe)
c.1741A>T (p.Ile581Phe)
n.1584A>T
c.1603A>T (p.Ile535Phe)
c.1408A>T (p.Ile470Phe)
c.1945A>T (p.Ile649Phe)
c.1846A>T (p.Ile616Phe)
c.1717A>T (p.Ile573Phe)
c.1708A>T (p.Ile570Phe)
c.1513A>T (p.Ile505Phe)
15g.50242409T>CCA392376967HDCc.1840A>G (p.Ile614Val)
c.1741A>G (p.Ile581Val)
n.1584A>G
c.1603A>G (p.Ile535Val)
c.1408A>G (p.Ile470Val)
c.1945A>G (p.Ile649Val)
c.1846A>G (p.Ile616Val)
c.1717A>G (p.Ile573Val)
c.1708A>G (p.Ile570Val)
c.1513A>G (p.Ile505Val)
gnomAD v4
15g.50242409T>GCA392376968HDCc.1840A>C (p.Ile614Leu)
c.1741A>C (p.Ile581Leu)
n.1584A>C
c.1603A>C (p.Ile535Leu)
c.1408A>C (p.Ile470Leu)
c.1945A>C (p.Ile649Leu)
c.1846A>C (p.Ile616Leu)
c.1717A>C (p.Ile573Leu)
c.1708A>C (p.Ile570Leu)
c.1513A>C (p.Ile505Leu)
dbSNP gnomAD v3 gnomAD v4
15g.50242409T=CA2176326581HDCc.1840A= (p.Ile614=)
c.1741A= (p.Ile581=)
n.1584A=
c.1603A= (p.Ile535=)
c.1408A= (p.Ile470=)
c.1945A= (p.Ile649=)
c.1846A= (p.Ile616=)
c.1717A= (p.Ile573=)
c.1708A= (p.Ile570=)
c.1513A= (p.Ile505=)
15g.50242410T>ACA392376970HDCc.1839A>T (p.Arg613Ser)
c.1740A>T (p.Arg580Ser)
n.1583A>T
c.1602A>T (p.Arg534Ser)
c.1407A>T (p.Arg469Ser)
c.1944A>T (p.Arg648Ser)
c.1845A>T (p.Arg615Ser)
c.1716A>T (p.Arg572Ser)
c.1707A>T (p.Arg569Ser)
c.1512A>T (p.Arg504Ser)
15g.50242410T>CCA490314009HDCc.1839A>G (p.Arg613=)
c.1740A>G (p.Arg580=)
n.1583A>G
c.1602A>G (p.Arg534=)
c.1407A>G (p.Arg469=)
c.1944A>G (p.Arg648=)
c.1845A>G (p.Arg615=)
c.1716A>G (p.Arg572=)
c.1707A>G (p.Arg569=)
c.1512A>G (p.Arg504=)
15g.50242410T>GCA392376969HDCc.1839A>C (p.Arg613Ser)
c.1740A>C (p.Arg580Ser)
n.1583A>C
c.1602A>C (p.Arg534Ser)
c.1407A>C (p.Arg469Ser)
c.1944A>C (p.Arg648Ser)
c.1845A>C (p.Arg615Ser)
c.1716A>C (p.Arg572Ser)
c.1707A>C (p.Arg569Ser)
c.1512A>C (p.Arg504Ser)
15g.50242411C>ACA392376971HDCc.1838G>T (p.Arg613Ile)
c.1739G>T (p.Arg580Ile)
n.1582G>T
c.1601G>T (p.Arg534Ile)
c.1406G>T (p.Arg469Ile)
c.1943G>T (p.Arg648Ile)
c.1844G>T (p.Arg615Ile)
c.1715G>T (p.Arg572Ile)
c.1706G>T (p.Arg569Ile)
c.1511G>T (p.Arg504Ile)
15g.50242411C=CA2176326582HDCc.1838G= (p.Arg613=)
c.1739G= (p.Arg580=)
n.1582G=
c.1601G= (p.Arg534=)
c.1406G= (p.Arg469=)
c.1943G= (p.Arg648=)
c.1844G= (p.Arg615=)
c.1715G= (p.Arg572=)
c.1706G= (p.Arg569=)
c.1511G= (p.Arg504=)
15g.50242411C>GCA7554484HDCc.1838G>C (p.Arg613Thr)
c.1739G>C (p.Arg580Thr)
n.1582G>C
c.1601G>C (p.Arg534Thr)
c.1406G>C (p.Arg469Thr)
c.1943G>C (p.Arg648Thr)
c.1844G>C (p.Arg615Thr)
c.1715G>C (p.Arg572Thr)
c.1706G>C (p.Arg569Thr)
c.1511G>C (p.Arg504Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242411C>TCA392376972HDCc.1838G>A (p.Arg613Lys)
c.1739G>A (p.Arg580Lys)
n.1582G>A
c.1601G>A (p.Arg534Lys)
c.1406G>A (p.Arg469Lys)
c.1943G>A (p.Arg648Lys)
c.1844G>A (p.Arg615Lys)
c.1715G>A (p.Arg572Lys)
c.1706G>A (p.Arg569Lys)
c.1511G>A (p.Arg504Lys)
15g.50242412T>ACA392376973HDCc.1837A>T (p.Arg613Ter)
c.1738A>T (p.Arg580Ter)
n.1581A>T
c.1600A>T (p.Arg534Ter)
c.1405A>T (p.Arg469Ter)
c.1942A>T (p.Arg648Ter)
c.1843A>T (p.Arg615Ter)
c.1714A>T (p.Arg572Ter)
c.1705A>T (p.Arg569Ter)
c.1510A>T (p.Arg504Ter)
15g.50242412T>CCA7554485HDCc.1837A>G (p.Arg613Gly)
c.1738A>G (p.Arg580Gly)
n.1581A>G
c.1600A>G (p.Arg534Gly)
c.1405A>G (p.Arg469Gly)
c.1942A>G (p.Arg648Gly)
c.1843A>G (p.Arg615Gly)
c.1714A>G (p.Arg572Gly)
c.1705A>G (p.Arg569Gly)
c.1510A>G (p.Arg504Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242412T>GCA490314011HDCc.1837A>C (p.Arg613=)
c.1738A>C (p.Arg580=)
n.1581A>C
c.1600A>C (p.Arg534=)
c.1405A>C (p.Arg469=)
c.1942A>C (p.Arg648=)
c.1843A>C (p.Arg615=)
c.1714A>C (p.Arg572=)
c.1705A>C (p.Arg569=)
c.1510A>C (p.Arg504=)
15g.50242412T=CA2176326583HDCc.1837A= (p.Arg613=)
c.1738A= (p.Arg580=)
n.1581A=
c.1600A= (p.Arg534=)
c.1405A= (p.Arg469=)
c.1942A= (p.Arg648=)
c.1843A= (p.Arg615=)
c.1714A= (p.Arg572=)
c.1705A= (p.Arg569=)
c.1510A= (p.Arg504=)
15g.50242413G>ACA490314012HDCc.1836C>T (p.Val612=)
c.1737C>T (p.Val579=)
n.1580C>T
c.1599C>T (p.Val533=)
c.1404C>T (p.Val468=)
c.1941C>T (p.Val647=)
c.1842C>T (p.Val614=)
c.1713C>T (p.Val571=)
c.1704C>T (p.Val568=)
c.1509C>T (p.Val503=)
15g.50242413G>CCA490314013HDCc.1836C>G (p.Val612=)
c.1737C>G (p.Val579=)
n.1580C>G
c.1599C>G (p.Val533=)
c.1404C>G (p.Val468=)
c.1941C>G (p.Val647=)
c.1842C>G (p.Val614=)
c.1713C>G (p.Val571=)
c.1704C>G (p.Val568=)
c.1509C>G (p.Val503=)
15g.50242413G>TCA490314014HDCc.1836C>A (p.Val612=)
c.1737C>A (p.Val579=)
n.1580C>A
c.1599C>A (p.Val533=)
c.1404C>A (p.Val468=)
c.1941C>A (p.Val647=)
c.1842C>A (p.Val614=)
c.1713C>A (p.Val571=)
c.1704C>A (p.Val568=)
c.1509C>A (p.Val503=)
15g.50242414A=CA2176326584HDCc.1835T= (p.Val612=)
c.1736T= (p.Val579=)
n.1579T=
c.1598T= (p.Val533=)
c.1403T= (p.Val468=)
c.1940T= (p.Val647=)
c.1841T= (p.Val614=)
c.1712T= (p.Val571=)
c.1703T= (p.Val568=)
c.1508T= (p.Val503=)
15g.50242414A>CCA392376974HDCc.1835T>G (p.Val612Gly)
c.1736T>G (p.Val579Gly)
n.1579T>G
c.1598T>G (p.Val533Gly)
c.1403T>G (p.Val468Gly)
c.1940T>G (p.Val647Gly)
c.1841T>G (p.Val614Gly)
c.1712T>G (p.Val571Gly)
c.1703T>G (p.Val568Gly)
c.1508T>G (p.Val503Gly)
dbSNP
15g.50242414A>GCA392376975HDCc.1835T>C (p.Val612Ala)
c.1736T>C (p.Val579Ala)
n.1579T>C
c.1598T>C (p.Val533Ala)
c.1403T>C (p.Val468Ala)
c.1940T>C (p.Val647Ala)
c.1841T>C (p.Val614Ala)
c.1712T>C (p.Val571Ala)
c.1703T>C (p.Val568Ala)
c.1508T>C (p.Val503Ala)
15g.50242414A>TCA392376976HDCc.1835T>A (p.Val612Asp)
c.1736T>A (p.Val579Asp)
n.1579T>A
c.1598T>A (p.Val533Asp)
c.1403T>A (p.Val468Asp)
c.1940T>A (p.Val647Asp)
c.1841T>A (p.Val614Asp)
c.1712T>A (p.Val571Asp)
c.1703T>A (p.Val568Asp)
c.1508T>A (p.Val503Asp)
15g.50242415C>ACA392376977HDCc.1834G>T (p.Val612Phe)
c.1735G>T (p.Val579Phe)
n.1578G>T
c.1597G>T (p.Val533Phe)
c.1402G>T (p.Val468Phe)
c.1939G>T (p.Val647Phe)
c.1840G>T (p.Val614Phe)
c.1711G>T (p.Val571Phe)
c.1702G>T (p.Val568Phe)
c.1507G>T (p.Val503Phe)
15g.50242415C>GCA392376978HDCc.1834G>C (p.Val612Leu)
c.1735G>C (p.Val579Leu)
n.1578G>C
c.1597G>C (p.Val533Leu)
c.1402G>C (p.Val468Leu)
c.1939G>C (p.Val647Leu)
c.1840G>C (p.Val614Leu)
c.1711G>C (p.Val571Leu)
c.1702G>C (p.Val568Leu)
c.1507G>C (p.Val503Leu)
15g.50242415C>TCA392376979HDCc.1834G>A (p.Val612Ile)
c.1735G>A (p.Val579Ile)
n.1578G>A
c.1597G>A (p.Val533Ile)
c.1402G>A (p.Val468Ile)
c.1939G>A (p.Val647Ile)
c.1840G>A (p.Val614Ile)
c.1711G>A (p.Val571Ile)
c.1702G>A (p.Val568Ile)
c.1507G>A (p.Val503Ile)
15g.50242416C>ACA7554486HDCc.1833G>T (p.Arg611Ser)
c.1734G>T (p.Arg578Ser)
n.1577G>T
c.1596G>T (p.Arg532Ser)
c.1401G>T (p.Arg467Ser)
c.1938G>T (p.Arg646Ser)
c.1839G>T (p.Arg613Ser)
c.1710G>T (p.Arg570Ser)
c.1701G>T (p.Arg567Ser)
c.1506G>T (p.Arg502Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242416C=CA2176326585HDCc.1833G= (p.Arg611=)
c.1734G= (p.Arg578=)
n.1577G=
c.1596G= (p.Arg532=)
c.1401G= (p.Arg467=)
c.1938G= (p.Arg646=)
c.1839G= (p.Arg613=)
c.1710G= (p.Arg570=)
c.1701G= (p.Arg567=)
c.1506G= (p.Arg502=)
15g.50242416C>GCA392376980HDCc.1833G>C (p.Arg611Ser)
c.1734G>C (p.Arg578Ser)
n.1577G>C
c.1596G>C (p.Arg532Ser)
c.1401G>C (p.Arg467Ser)
c.1938G>C (p.Arg646Ser)
c.1839G>C (p.Arg613Ser)
c.1710G>C (p.Arg570Ser)
c.1701G>C (p.Arg567Ser)
c.1506G>C (p.Arg502Ser)
gnomAD v4
15g.50242416C>TCA490314015HDCc.1833G>A (p.Arg611=)
c.1734G>A (p.Arg578=)
n.1577G>A
c.1596G>A (p.Arg532=)
c.1401G>A (p.Arg467=)
c.1938G>A (p.Arg646=)
c.1839G>A (p.Arg613=)
c.1710G>A (p.Arg570=)
c.1701G>A (p.Arg567=)
c.1506G>A (p.Arg502=)
15g.50242417C>ACA392376982HDCc.1832G>T (p.Arg611Met)
c.1733G>T (p.Arg578Met)
n.1576G>T
c.1595G>T (p.Arg532Met)
c.1400G>T (p.Arg467Met)
c.1937G>T (p.Arg646Met)
c.1838G>T (p.Arg613Met)
c.1709G>T (p.Arg570Met)
c.1700G>T (p.Arg567Met)
c.1505G>T (p.Arg502Met)
dbSNP
15g.50242417C>GCA392376983HDCc.1832G>C (p.Arg611Thr)
c.1733G>C (p.Arg578Thr)
n.1576G>C
c.1595G>C (p.Arg532Thr)
c.1400G>C (p.Arg467Thr)
c.1937G>C (p.Arg646Thr)
c.1838G>C (p.Arg613Thr)
c.1709G>C (p.Arg570Thr)
c.1700G>C (p.Arg567Thr)
c.1505G>C (p.Arg502Thr)
15g.50242417C>TCA392376981HDCc.1832G>A (p.Arg611Lys)
c.1733G>A (p.Arg578Lys)
n.1576G>A
c.1595G>A (p.Arg532Lys)
c.1400G>A (p.Arg467Lys)
c.1937G>A (p.Arg646Lys)
c.1838G>A (p.Arg613Lys)
c.1709G>A (p.Arg570Lys)
c.1700G>A (p.Arg567Lys)
c.1505G>A (p.Arg502Lys)
15g.50242418T>ACA392376984HDCc.1831A>T (p.Arg611Trp)
c.1732A>T (p.Arg578Trp)
n.1575A>T
c.1594A>T (p.Arg532Trp)
c.1399A>T (p.Arg467Trp)
c.1936A>T (p.Arg646Trp)
c.1837A>T (p.Arg613Trp)
c.1708A>T (p.Arg570Trp)
c.1699A>T (p.Arg567Trp)
c.1504A>T (p.Arg502Trp)
15g.50242418T>CCA392376985HDCc.1831A>G (p.Arg611Gly)
c.1732A>G (p.Arg578Gly)
n.1575A>G
c.1594A>G (p.Arg532Gly)
c.1399A>G (p.Arg467Gly)
c.1936A>G (p.Arg646Gly)
c.1837A>G (p.Arg613Gly)
c.1708A>G (p.Arg570Gly)
c.1699A>G (p.Arg567Gly)
c.1504A>G (p.Arg502Gly)
gnomAD v4
15g.50242418T>GCA490314018HDCc.1831A>C (p.Arg611=)
c.1732A>C (p.Arg578=)
n.1575A>C
c.1594A>C (p.Arg532=)
c.1399A>C (p.Arg467=)
c.1936A>C (p.Arg646=)
c.1837A>C (p.Arg613=)
c.1708A>C (p.Arg570=)
c.1699A>C (p.Arg567=)
c.1504A>C (p.Arg502=)
15g.50242419G>ACA490314019HDCc.1830C>T (p.Ser610=)
c.1731C>T (p.Ser577=)
n.1574C>T
c.1593C>T (p.Ser531=)
c.1398C>T (p.Ser466=)
c.1935C>T (p.Ser645=)
c.1836C>T (p.Ser612=)
c.1707C>T (p.Ser569=)
c.1698C>T (p.Ser566=)
c.1503C>T (p.Ser501=)
gnomAD v4
15g.50242419G>CCA490314020HDCc.1830C>G (p.Ser610=)
c.1731C>G (p.Ser577=)
n.1574C>G
c.1593C>G (p.Ser531=)
c.1398C>G (p.Ser466=)
c.1935C>G (p.Ser645=)
c.1836C>G (p.Ser612=)
c.1707C>G (p.Ser569=)
c.1698C>G (p.Ser566=)
c.1503C>G (p.Ser501=)
15g.50242419G>TCA490314021HDCc.1830C>A (p.Ser610=)
c.1731C>A (p.Ser577=)
n.1574C>A
c.1593C>A (p.Ser531=)
c.1398C>A (p.Ser466=)
c.1935C>A (p.Ser645=)
c.1836C>A (p.Ser612=)
c.1707C>A (p.Ser569=)
c.1698C>A (p.Ser566=)
c.1503C>A (p.Ser501=)
15g.50242420delCA2628396235HDCc.1830del (p.Arg611GlyfsTer12)
c.1731del (p.Arg578GlyfsTer12)
n.1574del
c.1593del (p.Arg532GlyfsTer12)
c.1398del (p.Arg467GlyfsTer12)
c.1935del (p.Arg646GlyfsTer12)
c.1836del (p.Arg613GlyfsTer12)
c.1707del (p.Arg570GlyfsTer12)
c.1698del (p.Arg567GlyfsTer12)
c.1503del (p.Arg502GlyfsTer12)
gnomAD v4
15g.50242420G>ACA7554487HDCc.1829C>T (p.Ser610Phe)
c.1730C>T (p.Ser577Phe)
n.1573C>T
c.1592C>T (p.Ser531Phe)
c.1397C>T (p.Ser466Phe)
c.1934C>T (p.Ser645Phe)
c.1835C>T (p.Ser612Phe)
c.1706C>T (p.Ser569Phe)
c.1697C>T (p.Ser566Phe)
c.1502C>T (p.Ser501Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242420G>CCA392376986HDCc.1829C>G (p.Ser610Cys)
c.1730C>G (p.Ser577Cys)
n.1573C>G
c.1592C>G (p.Ser531Cys)
c.1397C>G (p.Ser466Cys)
c.1934C>G (p.Ser645Cys)
c.1835C>G (p.Ser612Cys)
c.1706C>G (p.Ser569Cys)
c.1697C>G (p.Ser566Cys)
c.1502C>G (p.Ser501Cys)
15g.50242420G=CA2176326586HDCc.1829C= (p.Ser610=)
c.1730C= (p.Ser577=)
n.1573C=
c.1592C= (p.Ser531=)
c.1397C= (p.Ser466=)
c.1934C= (p.Ser645=)
c.1835C= (p.Ser612=)
c.1706C= (p.Ser569=)
c.1697C= (p.Ser566=)
c.1502C= (p.Ser501=)
15g.50242420G>TCA392376987HDCc.1829C>A (p.Ser610Tyr)
c.1730C>A (p.Ser577Tyr)
n.1573C>A
c.1592C>A (p.Ser531Tyr)
c.1397C>A (p.Ser466Tyr)
c.1934C>A (p.Ser645Tyr)
c.1835C>A (p.Ser612Tyr)
c.1706C>A (p.Ser569Tyr)
c.1697C>A (p.Ser566Tyr)
c.1502C>A (p.Ser501Tyr)
15g.50242421A=CA2176326587HDCc.1828T= (p.Ser610=)
c.1729T= (p.Ser577=)
n.1572T=
c.1591T= (p.Ser531=)
c.1396T= (p.Ser466=)
c.1933T= (p.Ser645=)
c.1834T= (p.Ser612=)
c.1705T= (p.Ser569=)
c.1696T= (p.Ser566=)
c.1501T= (p.Ser501=)
15g.50242421A>CCA392376990HDCc.1828T>G (p.Ser610Ala)
c.1729T>G (p.Ser577Ala)
n.1572T>G
c.1591T>G (p.Ser531Ala)
c.1396T>G (p.Ser466Ala)
c.1933T>G (p.Ser645Ala)
c.1834T>G (p.Ser612Ala)
c.1705T>G (p.Ser569Ala)
c.1696T>G (p.Ser566Ala)
c.1501T>G (p.Ser501Ala)
15g.50242421A>GCA392376989HDCc.1828T>C (p.Ser610Pro)
c.1729T>C (p.Ser577Pro)
n.1572T>C
c.1591T>C (p.Ser531Pro)
c.1396T>C (p.Ser466Pro)
c.1933T>C (p.Ser645Pro)
c.1834T>C (p.Ser612Pro)
c.1705T>C (p.Ser569Pro)
c.1696T>C (p.Ser566Pro)
c.1501T>C (p.Ser501Pro)
dbSNP
15g.50242421A>TCA392376988HDCc.1828T>A (p.Ser610Thr)
c.1729T>A (p.Ser577Thr)
n.1572T>A
c.1591T>A (p.Ser531Thr)
c.1396T>A (p.Ser466Thr)
c.1933T>A (p.Ser645Thr)
c.1834T>A (p.Ser612Thr)
c.1705T>A (p.Ser569Thr)
c.1696T>A (p.Ser566Thr)
c.1501T>A (p.Ser501Thr)
15g.50242422G>ACA490314027HDCc.1827C>T (p.Ser609=)
c.1728C>T (p.Ser576=)
n.1571C>T
c.1590C>T (p.Ser530=)
c.1395C>T (p.Ser465=)
c.1932C>T (p.Ser644=)
c.1833C>T (p.Ser611=)
c.1704C>T (p.Ser568=)
c.1695C>T (p.Ser565=)
c.1500C>T (p.Ser500=)
dbSNP gnomAD v3 gnomAD v4
15g.50242422G>CCA490314025HDCc.1827C>G (p.Ser609=)
c.1728C>G (p.Ser576=)
n.1571C>G
c.1590C>G (p.Ser530=)
c.1395C>G (p.Ser465=)
c.1932C>G (p.Ser644=)
c.1833C>G (p.Ser611=)
c.1704C>G (p.Ser568=)
c.1695C>G (p.Ser565=)
c.1500C>G (p.Ser500=)
15g.50242422G=CA2176326588HDCc.1827C= (p.Ser609=)
c.1728C= (p.Ser576=)
n.1571C=
c.1590C= (p.Ser530=)
c.1395C= (p.Ser465=)
c.1932C= (p.Ser644=)
c.1833C= (p.Ser611=)
c.1704C= (p.Ser568=)
c.1695C= (p.Ser565=)
c.1500C= (p.Ser500=)
15g.50242422G>TCA490314026HDCc.1827C>A (p.Ser609=)
c.1728C>A (p.Ser576=)
n.1571C>A
c.1590C>A (p.Ser530=)
c.1395C>A (p.Ser465=)
c.1932C>A (p.Ser644=)
c.1833C>A (p.Ser611=)
c.1704C>A (p.Ser568=)
c.1695C>A (p.Ser565=)
c.1500C>A (p.Ser500=)
gnomAD v4
15g.50242423delCA2628396240HDCc.1827del (p.Ser610ProfsTer13)
c.1728del (p.Ser577ProfsTer13)
n.1571del
c.1590del (p.Ser531ProfsTer13)
c.1395del (p.Ser466ProfsTer13)
c.1932del (p.Ser645ProfsTer13)
c.1833del (p.Ser612ProfsTer13)
c.1704del (p.Ser569ProfsTer13)
c.1695del (p.Ser566ProfsTer13)
c.1500del (p.Ser501ProfsTer13)
gnomAD v4
15g.50242423G>ACA7554488HDCc.1826C>T (p.Ser609Phe)
c.1727C>T (p.Ser576Phe)
n.1570C>T
c.1589C>T (p.Ser530Phe)
c.1394C>T (p.Ser465Phe)
c.1931C>T (p.Ser644Phe)
c.1832C>T (p.Ser611Phe)
c.1703C>T (p.Ser568Phe)
c.1694C>T (p.Ser565Phe)
c.1499C>T (p.Ser500Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242423G>CCA392376991HDCc.1826C>G (p.Ser609Cys)
c.1727C>G (p.Ser576Cys)
n.1570C>G
c.1589C>G (p.Ser530Cys)
c.1394C>G (p.Ser465Cys)
c.1931C>G (p.Ser644Cys)
c.1832C>G (p.Ser611Cys)
c.1703C>G (p.Ser568Cys)
c.1694C>G (p.Ser565Cys)
c.1499C>G (p.Ser500Cys)
15g.50242423G=CA2176326589HDCc.1826C= (p.Ser609=)
c.1727C= (p.Ser576=)
n.1570C=
c.1589C= (p.Ser530=)
c.1394C= (p.Ser465=)
c.1931C= (p.Ser644=)
c.1832C= (p.Ser611=)
c.1703C= (p.Ser568=)
c.1694C= (p.Ser565=)
c.1499C= (p.Ser500=)
15g.50242423G>TCA392376992HDCc.1826C>A (p.Ser609Tyr)
c.1727C>A (p.Ser576Tyr)
n.1570C>A
c.1589C>A (p.Ser530Tyr)
c.1394C>A (p.Ser465Tyr)
c.1931C>A (p.Ser644Tyr)
c.1832C>A (p.Ser611Tyr)
c.1703C>A (p.Ser568Tyr)
c.1694C>A (p.Ser565Tyr)
c.1499C>A (p.Ser500Tyr)
15g.50242424A>CCA392376993HDCc.1825T>G (p.Ser609Ala)
c.1726T>G (p.Ser576Ala)
n.1569T>G
c.1588T>G (p.Ser530Ala)
c.1393T>G (p.Ser465Ala)
c.1930T>G (p.Ser644Ala)
c.1831T>G (p.Ser611Ala)
c.1702T>G (p.Ser568Ala)
c.1693T>G (p.Ser565Ala)
c.1498T>G (p.Ser500Ala)
COSMIC
15g.50242424A>GCA392376994HDCc.1825T>C (p.Ser609Pro)
c.1726T>C (p.Ser576Pro)
n.1569T>C
c.1588T>C (p.Ser530Pro)
c.1393T>C (p.Ser465Pro)
c.1930T>C (p.Ser644Pro)
c.1831T>C (p.Ser611Pro)
c.1702T>C (p.Ser568Pro)
c.1693T>C (p.Ser565Pro)
c.1498T>C (p.Ser500Pro)
15g.50242424A>TCA392376995HDCc.1825T>A (p.Ser609Thr)
c.1726T>A (p.Ser576Thr)
n.1569T>A
c.1588T>A (p.Ser530Thr)
c.1393T>A (p.Ser465Thr)
c.1930T>A (p.Ser644Thr)
c.1831T>A (p.Ser611Thr)
c.1702T>A (p.Ser568Thr)
c.1693T>A (p.Ser565Thr)
c.1498T>A (p.Ser500Thr)
15g.50242425G>ACA490314029HDCc.1824C>T (p.Gly608=)
c.1725C>T (p.Gly575=)
n.1568C>T
c.1587C>T (p.Gly529=)
c.1392C>T (p.Gly464=)
c.1929C>T (p.Gly643=)
c.1830C>T (p.Gly610=)
c.1701C>T (p.Gly567=)
c.1692C>T (p.Gly564=)
c.1497C>T (p.Gly499=)
dbSNP
15g.50242425G>CCA490314030HDCc.1824C>G (p.Gly608=)
c.1725C>G (p.Gly575=)
n.1568C>G
c.1587C>G (p.Gly529=)
c.1392C>G (p.Gly464=)
c.1929C>G (p.Gly643=)
c.1830C>G (p.Gly610=)
c.1701C>G (p.Gly567=)
c.1692C>G (p.Gly564=)
c.1497C>G (p.Gly499=)
15g.50242425G=CA2176326590HDCc.1824C= (p.Gly608=)
c.1725C= (p.Gly575=)
n.1568C=
c.1587C= (p.Gly529=)
c.1392C= (p.Gly464=)
c.1929C= (p.Gly643=)
c.1830C= (p.Gly610=)
c.1701C= (p.Gly567=)
c.1692C= (p.Gly564=)
c.1497C= (p.Gly499=)
15g.50242425G>TCA490314031HDCc.1824C>A (p.Gly608=)
c.1725C>A (p.Gly575=)
n.1568C>A
c.1587C>A (p.Gly529=)
c.1392C>A (p.Gly464=)
c.1929C>A (p.Gly643=)
c.1830C>A (p.Gly610=)
c.1701C>A (p.Gly567=)
c.1692C>A (p.Gly564=)
c.1497C>A (p.Gly499=)
15g.50242426C>ACA392376998HDCc.1823G>T (p.Gly608Val)
c.1724G>T (p.Gly575Val)
n.1567G>T
c.1586G>T (p.Gly529Val)
c.1391G>T (p.Gly464Val)
c.1928G>T (p.Gly643Val)
c.1829G>T (p.Gly610Val)
c.1700G>T (p.Gly567Val)
c.1691G>T (p.Gly564Val)
c.1496G>T (p.Gly499Val)
15g.50242426C=CA2176326591HDCc.1823G= (p.Gly608=)
c.1724G= (p.Gly575=)
n.1567G=
c.1586G= (p.Gly529=)
c.1391G= (p.Gly464=)
c.1928G= (p.Gly643=)
c.1829G= (p.Gly610=)
c.1700G= (p.Gly567=)
c.1691G= (p.Gly564=)
c.1496G= (p.Gly499=)
15g.50242426C>GCA392376996HDCc.1823G>C (p.Gly608Ala)
c.1724G>C (p.Gly575Ala)
n.1567G>C
c.1586G>C (p.Gly529Ala)
c.1391G>C (p.Gly464Ala)
c.1928G>C (p.Gly643Ala)
c.1829G>C (p.Gly610Ala)
c.1700G>C (p.Gly567Ala)
c.1691G>C (p.Gly564Ala)
c.1496G>C (p.Gly499Ala)
dbSNP gnomAD v3 gnomAD v4
15g.50242426C>TCA392376997HDCc.1823G>A (p.Gly608Asp)
c.1724G>A (p.Gly575Asp)
n.1567G>A
c.1586G>A (p.Gly529Asp)
c.1391G>A (p.Gly464Asp)
c.1928G>A (p.Gly643Asp)
c.1829G>A (p.Gly610Asp)
c.1700G>A (p.Gly567Asp)
c.1691G>A (p.Gly564Asp)
c.1496G>A (p.Gly499Asp)
dbSNP gnomAD v4
15g.50242427C>ACA392376999HDCc.1822G>T (p.Gly608Cys)
c.1723G>T (p.Gly575Cys)
n.1566G>T
c.1585G>T (p.Gly529Cys)
c.1390G>T (p.Gly464Cys)
c.1927G>T (p.Gly643Cys)
c.1828G>T (p.Gly610Cys)
c.1699G>T (p.Gly567Cys)
c.1690G>T (p.Gly564Cys)
c.1495G>T (p.Gly499Cys)
gnomAD v4
15g.50242427C>GCA392377000HDCc.1822G>C (p.Gly608Arg)
c.1723G>C (p.Gly575Arg)
n.1566G>C
c.1585G>C (p.Gly529Arg)
c.1390G>C (p.Gly464Arg)
c.1927G>C (p.Gly643Arg)
c.1828G>C (p.Gly610Arg)
c.1699G>C (p.Gly567Arg)
c.1690G>C (p.Gly564Arg)
c.1495G>C (p.Gly499Arg)
15g.50242427C>TCA392377001HDCc.1822G>A (p.Gly608Ser)
c.1723G>A (p.Gly575Ser)
n.1566G>A
c.1585G>A (p.Gly529Ser)
c.1390G>A (p.Gly464Ser)
c.1927G>A (p.Gly643Ser)
c.1828G>A (p.Gly610Ser)
c.1699G>A (p.Gly567Ser)
c.1690G>A (p.Gly564Ser)
c.1495G>A (p.Gly499Ser)
15g.50242428C>ACA490314038HDCc.1821G>T (p.Gly607=)
c.1722G>T (p.Gly574=)
n.1565G>T
c.1584G>T (p.Gly528=)
c.1389G>T (p.Gly463=)
c.1926G>T (p.Gly642=)
c.1827G>T (p.Gly609=)
c.1698G>T (p.Gly566=)
c.1689G>T (p.Gly563=)
c.1494G>T (p.Gly498=)
15g.50242428C>GCA490314036HDCc.1821G>C (p.Gly607=)
c.1722G>C (p.Gly574=)
n.1565G>C
c.1584G>C (p.Gly528=)
c.1389G>C (p.Gly463=)
c.1926G>C (p.Gly642=)
c.1827G>C (p.Gly609=)
c.1698G>C (p.Gly566=)
c.1689G>C (p.Gly563=)
c.1494G>C (p.Gly498=)
15g.50242428C>TCA490314037HDCc.1821G>A (p.Gly607=)
c.1722G>A (p.Gly574=)
n.1565G>A
c.1584G>A (p.Gly528=)
c.1389G>A (p.Gly463=)
c.1926G>A (p.Gly642=)
c.1827G>A (p.Gly609=)
c.1698G>A (p.Gly566=)
c.1689G>A (p.Gly563=)
c.1494G>A (p.Gly498=)
15g.50242429C>ACA392377002HDCc.1820G>T (p.Gly607Val)
c.1721G>T (p.Gly574Val)
n.1564G>T
c.1583G>T (p.Gly528Val)
c.1388G>T (p.Gly463Val)
c.1925G>T (p.Gly642Val)
c.1826G>T (p.Gly609Val)
c.1697G>T (p.Gly566Val)
c.1688G>T (p.Gly563Val)
c.1493G>T (p.Gly498Val)
15g.50242429C>GCA392377003HDCc.1820G>C (p.Gly607Ala)
c.1721G>C (p.Gly574Ala)
n.1564G>C
c.1583G>C (p.Gly528Ala)
c.1388G>C (p.Gly463Ala)
c.1925G>C (p.Gly642Ala)
c.1826G>C (p.Gly609Ala)
c.1697G>C (p.Gly566Ala)
c.1688G>C (p.Gly563Ala)
c.1493G>C (p.Gly498Ala)
gnomAD v4
15g.50242429C>TCA392377004HDCc.1820G>A (p.Gly607Glu)
c.1721G>A (p.Gly574Glu)
n.1564G>A
c.1583G>A (p.Gly528Glu)
c.1388G>A (p.Gly463Glu)
c.1925G>A (p.Gly642Glu)
c.1826G>A (p.Gly609Glu)
c.1697G>A (p.Gly566Glu)
c.1688G>A (p.Gly563Glu)
c.1493G>A (p.Gly498Glu)
15g.50242430C>ACA392377007HDCc.1819G>T (p.Gly607Trp)
c.1720G>T (p.Gly574Trp)
n.1563G>T
c.1582G>T (p.Gly528Trp)
c.1387G>T (p.Gly463Trp)
c.1924G>T (p.Gly642Trp)
c.1825G>T (p.Gly609Trp)
c.1696G>T (p.Gly566Trp)
c.1687G>T (p.Gly563Trp)
c.1492G>T (p.Gly498Trp)
15g.50242430C>GCA392377005HDCc.1819G>C (p.Gly607Arg)
c.1720G>C (p.Gly574Arg)
n.1563G>C
c.1582G>C (p.Gly528Arg)
c.1387G>C (p.Gly463Arg)
c.1924G>C (p.Gly642Arg)
c.1825G>C (p.Gly609Arg)
c.1696G>C (p.Gly566Arg)
c.1687G>C (p.Gly563Arg)
c.1492G>C (p.Gly498Arg)
15g.50242430C>TCA392377006HDCc.1819G>A (p.Gly607Arg)
c.1720G>A (p.Gly574Arg)
n.1563G>A
c.1582G>A (p.Gly528Arg)
c.1387G>A (p.Gly463Arg)
c.1924G>A (p.Gly642Arg)
c.1825G>A (p.Gly609Arg)
c.1696G>A (p.Gly566Arg)
c.1687G>A (p.Gly563Arg)
c.1492G>A (p.Gly498Arg)
15g.50242431A=CA2176326592HDCc.1818T= (p.Asn606=)
c.1719T= (p.Asn573=)
n.1562T=
c.1581T= (p.Asn527=)
c.1386T= (p.Asn462=)
c.1923T= (p.Asn641=)
c.1824T= (p.Asn608=)
c.1695T= (p.Asn565=)
c.1686T= (p.Asn562=)
c.1491T= (p.Asn497=)
15g.50242431A>CCA392377008HDCc.1818T>G (p.Asn606Lys)
c.1719T>G (p.Asn573Lys)
n.1562T>G
c.1581T>G (p.Asn527Lys)
c.1386T>G (p.Asn462Lys)
c.1923T>G (p.Asn641Lys)
c.1824T>G (p.Asn608Lys)
c.1695T>G (p.Asn565Lys)
c.1686T>G (p.Asn562Lys)
c.1491T>G (p.Asn497Lys)
15g.50242431A>GCA270413877HDCc.1818T>C (p.Asn606=)
c.1719T>C (p.Asn573=)
n.1562T>C
c.1581T>C (p.Asn527=)
c.1386T>C (p.Asn462=)
c.1923T>C (p.Asn641=)
c.1824T>C (p.Asn608=)
c.1695T>C (p.Asn565=)
c.1686T>C (p.Asn562=)
c.1491T>C (p.Asn497=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.50242431A>TCA392377009HDCc.1818T>A (p.Asn606Lys)
c.1719T>A (p.Asn573Lys)
n.1562T>A
c.1581T>A (p.Asn527Lys)
c.1386T>A (p.Asn462Lys)
c.1923T>A (p.Asn641Lys)
c.1824T>A (p.Asn608Lys)
c.1695T>A (p.Asn565Lys)
c.1686T>A (p.Asn562Lys)
c.1491T>A (p.Asn497Lys)
15g.50242432T>ACA392377010HDCc.1817A>T (p.Asn606Ile)
c.1718A>T (p.Asn573Ile)
n.1561A>T
c.1580A>T (p.Asn527Ile)
c.1385A>T (p.Asn462Ile)
c.1922A>T (p.Asn641Ile)
c.1823A>T (p.Asn608Ile)
c.1694A>T (p.Asn565Ile)
c.1685A>T (p.Asn562Ile)
c.1490A>T (p.Asn497Ile)
15g.50242432T>CCA392377011HDCc.1817A>G (p.Asn606Ser)
c.1718A>G (p.Asn573Ser)
n.1561A>G
c.1580A>G (p.Asn527Ser)
c.1385A>G (p.Asn462Ser)
c.1922A>G (p.Asn641Ser)
c.1823A>G (p.Asn608Ser)
c.1694A>G (p.Asn565Ser)
c.1685A>G (p.Asn562Ser)
c.1490A>G (p.Asn497Ser)
15g.50242432T>GCA392377012HDCc.1817A>C (p.Asn606Thr)
c.1718A>C (p.Asn573Thr)
n.1561A>C
c.1580A>C (p.Asn527Thr)
c.1385A>C (p.Asn462Thr)
c.1922A>C (p.Asn641Thr)
c.1823A>C (p.Asn608Thr)
c.1694A>C (p.Asn565Thr)
c.1685A>C (p.Asn562Thr)
c.1490A>C (p.Asn497Thr)
15g.50242433T>ACA392377013HDCc.1816A>T (p.Asn606Tyr)
c.1717A>T (p.Asn573Tyr)
n.1560A>T
c.1579A>T (p.Asn527Tyr)
c.1384A>T (p.Asn462Tyr)
c.1921A>T (p.Asn641Tyr)
c.1822A>T (p.Asn608Tyr)
c.1693A>T (p.Asn565Tyr)
c.1684A>T (p.Asn562Tyr)
c.1489A>T (p.Asn497Tyr)
15g.50242433T>CCA392377015HDCc.1816A>G (p.Asn606Asp)
c.1717A>G (p.Asn573Asp)
n.1560A>G
c.1579A>G (p.Asn527Asp)
c.1384A>G (p.Asn462Asp)
c.1921A>G (p.Asn641Asp)
c.1822A>G (p.Asn608Asp)
c.1693A>G (p.Asn565Asp)
c.1684A>G (p.Asn562Asp)
c.1489A>G (p.Asn497Asp)
15g.50242433T>GCA392377014HDCc.1816A>C (p.Asn606His)
c.1717A>C (p.Asn573His)
n.1560A>C
c.1579A>C (p.Asn527His)
c.1384A>C (p.Asn462His)
c.1921A>C (p.Asn641His)
c.1822A>C (p.Asn608His)
c.1693A>C (p.Asn565His)
c.1684A>C (p.Asn562His)
c.1489A>C (p.Asn497His)
15g.50242434C>ACA392377016HDCc.1815G>T (p.Lys605Asn)
c.1716G>T (p.Lys572Asn)
n.1559G>T
c.1578G>T (p.Lys526Asn)
c.1383G>T (p.Lys461Asn)
c.1920G>T (p.Lys640Asn)
c.1821G>T (p.Lys607Asn)
c.1692G>T (p.Lys564Asn)
c.1683G>T (p.Lys561Asn)
c.1488G>T (p.Lys496Asn)
15g.50242434C>GCA392377017HDCc.1815G>C (p.Lys605Asn)
c.1716G>C (p.Lys572Asn)
n.1559G>C
c.1578G>C (p.Lys526Asn)
c.1383G>C (p.Lys461Asn)
c.1920G>C (p.Lys640Asn)
c.1821G>C (p.Lys607Asn)
c.1692G>C (p.Lys564Asn)
c.1683G>C (p.Lys561Asn)
c.1488G>C (p.Lys496Asn)
COSMIC
15g.50242434C>TCA490314043HDCc.1815G>A (p.Lys605=)
c.1716G>A (p.Lys572=)
n.1559G>A
c.1578G>A (p.Lys526=)
c.1383G>A (p.Lys461=)
c.1920G>A (p.Lys640=)
c.1821G>A (p.Lys607=)
c.1692G>A (p.Lys564=)
c.1683G>A (p.Lys561=)
c.1488G>A (p.Lys496=)
15g.50242435T>ACA392377018HDCc.1814A>T (p.Lys605Met)
c.1715A>T (p.Lys572Met)
n.1558A>T
c.1577A>T (p.Lys526Met)
c.1382A>T (p.Lys461Met)
c.1919A>T (p.Lys640Met)
c.1820A>T (p.Lys607Met)
c.1691A>T (p.Lys564Met)
c.1682A>T (p.Lys561Met)
c.1487A>T (p.Lys496Met)
15g.50242435T>CCA392377019HDCc.1814A>G (p.Lys605Arg)
c.1715A>G (p.Lys572Arg)
n.1558A>G
c.1577A>G (p.Lys526Arg)
c.1382A>G (p.Lys461Arg)
c.1919A>G (p.Lys640Arg)
c.1820A>G (p.Lys607Arg)
c.1691A>G (p.Lys564Arg)
c.1682A>G (p.Lys561Arg)
c.1487A>G (p.Lys496Arg)
15g.50242435T>GCA392377020HDCc.1814A>C (p.Lys605Thr)
c.1715A>C (p.Lys572Thr)
n.1558A>C
c.1577A>C (p.Lys526Thr)
c.1382A>C (p.Lys461Thr)
c.1919A>C (p.Lys640Thr)
c.1820A>C (p.Lys607Thr)
c.1691A>C (p.Lys564Thr)
c.1682A>C (p.Lys561Thr)
c.1487A>C (p.Lys496Thr)
15g.50242436T>ACA392377023HDCc.1813A>T (p.Lys605Ter)
c.1714A>T (p.Lys572Ter)
n.1557A>T
c.1576A>T (p.Lys526Ter)
c.1381A>T (p.Lys461Ter)
c.1918A>T (p.Lys640Ter)
c.1819A>T (p.Lys607Ter)
c.1690A>T (p.Lys564Ter)
c.1681A>T (p.Lys561Ter)
c.1486A>T (p.Lys496Ter)
15g.50242436T>CCA392377022HDCc.1813A>G (p.Lys605Glu)
c.1714A>G (p.Lys572Glu)
n.1557A>G
c.1576A>G (p.Lys526Glu)
c.1381A>G (p.Lys461Glu)
c.1918A>G (p.Lys640Glu)
c.1819A>G (p.Lys607Glu)
c.1690A>G (p.Lys564Glu)
c.1681A>G (p.Lys561Glu)
c.1486A>G (p.Lys496Glu)
15g.50242436T>GCA392377021HDCc.1813A>C (p.Lys605Gln)
c.1714A>C (p.Lys572Gln)
n.1557A>C
c.1576A>C (p.Lys526Gln)
c.1381A>C (p.Lys461Gln)
c.1918A>C (p.Lys640Gln)
c.1819A>C (p.Lys607Gln)
c.1690A>C (p.Lys564Gln)
c.1681A>C (p.Lys561Gln)
c.1486A>C (p.Lys496Gln)
15g.50242437C>ACA490314048HDCc.1812G>T (p.Val604=)
c.1713G>T (p.Val571=)
n.1556G>T
c.1575G>T (p.Val525=)
c.1380G>T (p.Val460=)
c.1917G>T (p.Val639=)
c.1818G>T (p.Val606=)
c.1689G>T (p.Val563=)
c.1680G>T (p.Val560=)
c.1485G>T (p.Val495=)
15g.50242437C=CA2176326593HDCc.1812G= (p.Val604=)
c.1713G= (p.Val571=)
n.1556G=
c.1575G= (p.Val525=)
c.1380G= (p.Val460=)
c.1917G= (p.Val639=)
c.1818G= (p.Val606=)
c.1689G= (p.Val563=)
c.1680G= (p.Val560=)
c.1485G= (p.Val495=)
15g.50242437C>GCA490314049HDCc.1812G>C (p.Val604=)
c.1713G>C (p.Val571=)
n.1556G>C
c.1575G>C (p.Val525=)
c.1380G>C (p.Val460=)
c.1917G>C (p.Val639=)
c.1818G>C (p.Val606=)
c.1689G>C (p.Val563=)
c.1680G>C (p.Val560=)
c.1485G>C (p.Val495=)
15g.50242437C>TCA490314050HDCc.1812G>A (p.Val604=)
c.1713G>A (p.Val571=)
n.1556G>A
c.1575G>A (p.Val525=)
c.1380G>A (p.Val460=)
c.1917G>A (p.Val639=)
c.1818G>A (p.Val606=)
c.1689G>A (p.Val563=)
c.1680G>A (p.Val560=)
c.1485G>A (p.Val495=)
dbSNP
15g.50242438A>CCA392377024HDCc.1811T>G (p.Val604Gly)
c.1712T>G (p.Val571Gly)
n.1555T>G
c.1574T>G (p.Val525Gly)
c.1379T>G (p.Val460Gly)
c.1916T>G (p.Val639Gly)
c.1817T>G (p.Val606Gly)
c.1688T>G (p.Val563Gly)
c.1679T>G (p.Val560Gly)
c.1484T>G (p.Val495Gly)
15g.50242438A>GCA392377025HDCc.1811T>C (p.Val604Ala)
c.1712T>C (p.Val571Ala)
n.1555T>C
c.1574T>C (p.Val525Ala)
c.1379T>C (p.Val460Ala)
c.1916T>C (p.Val639Ala)
c.1817T>C (p.Val606Ala)
c.1688T>C (p.Val563Ala)
c.1679T>C (p.Val560Ala)
c.1484T>C (p.Val495Ala)
15g.50242438A>TCA392377026HDCc.1811T>A (p.Val604Glu)
c.1712T>A (p.Val571Glu)
n.1555T>A
c.1574T>A (p.Val525Glu)
c.1379T>A (p.Val460Glu)
c.1916T>A (p.Val639Glu)
c.1817T>A (p.Val606Glu)
c.1688T>A (p.Val563Glu)
c.1679T>A (p.Val560Glu)
c.1484T>A (p.Val495Glu)
15g.50242439C>ACA392377027HDCc.1810G>T (p.Val604Leu)
c.1711G>T (p.Val571Leu)
n.1554G>T
c.1573G>T (p.Val525Leu)
c.1378G>T (p.Val460Leu)
c.1915G>T (p.Val639Leu)
c.1816G>T (p.Val606Leu)
c.1687G>T (p.Val563Leu)
c.1678G>T (p.Val560Leu)
c.1483G>T (p.Val495Leu)
15g.50242439C>GCA392377028HDCc.1810G>C (p.Val604Leu)
c.1711G>C (p.Val571Leu)
n.1554G>C
c.1573G>C (p.Val525Leu)
c.1378G>C (p.Val460Leu)
c.1915G>C (p.Val639Leu)
c.1816G>C (p.Val606Leu)
c.1687G>C (p.Val563Leu)
c.1678G>C (p.Val560Leu)
c.1483G>C (p.Val495Leu)
15g.50242439C>TCA392377029HDCc.1810G>A (p.Val604Met)
c.1711G>A (p.Val571Met)
n.1554G>A
c.1573G>A (p.Val525Met)
c.1378G>A (p.Val460Met)
c.1915G>A (p.Val639Met)
c.1816G>A (p.Val606Met)
c.1687G>A (p.Val563Met)
c.1678G>A (p.Val560Met)
c.1483G>A (p.Val495Met)
15g.50242440A=CA2176326594HDCc.1809T= (p.Ser603=)
c.1710T= (p.Ser570=)
n.1553T=
c.1572T= (p.Ser524=)
c.1377T= (p.Ser459=)
c.1914T= (p.Ser638=)
c.1815T= (p.Ser605=)
c.1686T= (p.Ser562=)
c.1677T= (p.Ser559=)
c.1482T= (p.Ser494=)
15g.50242440A>CCA490314054HDCc.1809T>G (p.Ser603=)
c.1710T>G (p.Ser570=)
n.1553T>G
c.1572T>G (p.Ser524=)
c.1377T>G (p.Ser459=)
c.1914T>G (p.Ser638=)
c.1815T>G (p.Ser605=)
c.1686T>G (p.Ser562=)
c.1677T>G (p.Ser559=)
c.1482T>G (p.Ser494=)
15g.50242440A>GCA490314055HDCc.1809T>C (p.Ser603=)
c.1710T>C (p.Ser570=)
n.1553T>C
c.1572T>C (p.Ser524=)
c.1377T>C (p.Ser459=)
c.1914T>C (p.Ser638=)
c.1815T>C (p.Ser605=)
c.1686T>C (p.Ser562=)
c.1677T>C (p.Ser559=)
c.1482T>C (p.Ser494=)
dbSNP
15g.50242440A>TCA490314057HDCc.1809T>A (p.Ser603=)
c.1710T>A (p.Ser570=)
n.1553T>A
c.1572T>A (p.Ser524=)
c.1377T>A (p.Ser459=)
c.1914T>A (p.Ser638=)
c.1815T>A (p.Ser605=)
c.1686T>A (p.Ser562=)
c.1677T>A (p.Ser559=)
c.1482T>A (p.Ser494=)
15g.50242441G>ACA392377030HDCc.1808C>T (p.Ser603Phe)
c.1709C>T (p.Ser570Phe)
n.1552C>T
c.1571C>T (p.Ser524Phe)
c.1376C>T (p.Ser459Phe)
c.1913C>T (p.Ser638Phe)
c.1814C>T (p.Ser605Phe)
c.1685C>T (p.Ser562Phe)
c.1676C>T (p.Ser559Phe)
c.1481C>T (p.Ser494Phe)
15g.50242441G>CCA392377032HDCc.1808C>G (p.Ser603Cys)
c.1709C>G (p.Ser570Cys)
n.1552C>G
c.1571C>G (p.Ser524Cys)
c.1376C>G (p.Ser459Cys)
c.1913C>G (p.Ser638Cys)
c.1814C>G (p.Ser605Cys)
c.1685C>G (p.Ser562Cys)
c.1676C>G (p.Ser559Cys)
c.1481C>G (p.Ser494Cys)
15g.50242441G>TCA392377031HDCc.1808C>A (p.Ser603Tyr)
c.1709C>A (p.Ser570Tyr)
n.1552C>A
c.1571C>A (p.Ser524Tyr)
c.1376C>A (p.Ser459Tyr)
c.1913C>A (p.Ser638Tyr)
c.1814C>A (p.Ser605Tyr)
c.1685C>A (p.Ser562Tyr)
c.1676C>A (p.Ser559Tyr)
c.1481C>A (p.Ser494Tyr)
15g.50242442A>CCA392377033HDCc.1807T>G (p.Ser603Ala)
c.1708T>G (p.Ser570Ala)
n.1551T>G
c.1570T>G (p.Ser524Ala)
c.1375T>G (p.Ser459Ala)
c.1912T>G (p.Ser638Ala)
c.1813T>G (p.Ser605Ala)
c.1684T>G (p.Ser562Ala)
c.1675T>G (p.Ser559Ala)
c.1480T>G (p.Ser494Ala)
15g.50242442A>GCA392377034HDCc.1807T>C (p.Ser603Pro)
c.1708T>C (p.Ser570Pro)
n.1551T>C
c.1570T>C (p.Ser524Pro)
c.1375T>C (p.Ser459Pro)
c.1912T>C (p.Ser638Pro)
c.1813T>C (p.Ser605Pro)
c.1684T>C (p.Ser562Pro)
c.1675T>C (p.Ser559Pro)
c.1480T>C (p.Ser494Pro)
15g.50242442A>TCA392377035HDCc.1807T>A (p.Ser603Thr)
c.1708T>A (p.Ser570Thr)
n.1551T>A
c.1570T>A (p.Ser524Thr)
c.1375T>A (p.Ser459Thr)
c.1912T>A (p.Ser638Thr)
c.1813T>A (p.Ser605Thr)
c.1684T>A (p.Ser562Thr)
c.1675T>A (p.Ser559Thr)
c.1480T>A (p.Ser494Thr)
15g.50242443G>ACA490314061HDCc.1806C>T (p.Ala602=)
c.1707C>T (p.Ala569=)
n.1550C>T
c.1569C>T (p.Ala523=)
c.1374C>T (p.Ala458=)
c.1911C>T (p.Ala637=)
c.1812C>T (p.Ala604=)
c.1683C>T (p.Ala561=)
c.1674C>T (p.Ala558=)
c.1479C>T (p.Ala493=)
15g.50242443G>CCA490314062HDCc.1806C>G (p.Ala602=)
c.1707C>G (p.Ala569=)
n.1550C>G
c.1569C>G (p.Ala523=)
c.1374C>G (p.Ala458=)
c.1911C>G (p.Ala637=)
c.1812C>G (p.Ala604=)
c.1683C>G (p.Ala561=)
c.1674C>G (p.Ala558=)
c.1479C>G (p.Ala493=)
15g.50242443G>TCA490314064HDCc.1806C>A (p.Ala602=)
c.1707C>A (p.Ala569=)
n.1550C>A
c.1569C>A (p.Ala523=)
c.1374C>A (p.Ala458=)
c.1911C>A (p.Ala637=)
c.1812C>A (p.Ala604=)
c.1683C>A (p.Ala561=)
c.1674C>A (p.Ala558=)
c.1479C>A (p.Ala493=)
15g.50242444G>ACA270413881HDCc.1805C>T (p.Ala602Val)
c.1706C>T (p.Ala569Val)
n.1549C>T
c.1568C>T (p.Ala523Val)
c.1373C>T (p.Ala458Val)
c.1910C>T (p.Ala637Val)
c.1811C>T (p.Ala604Val)
c.1682C>T (p.Ala561Val)
c.1673C>T (p.Ala558Val)
c.1478C>T (p.Ala493Val)
dbSNP
15g.50242444G>CCA392377036HDCc.1805C>G (p.Ala602Gly)
c.1706C>G (p.Ala569Gly)
n.1549C>G
c.1568C>G (p.Ala523Gly)
c.1373C>G (p.Ala458Gly)
c.1910C>G (p.Ala637Gly)
c.1811C>G (p.Ala604Gly)
c.1682C>G (p.Ala561Gly)
c.1673C>G (p.Ala558Gly)
c.1478C>G (p.Ala493Gly)
15g.50242444G=CA2176326595HDCc.1805C= (p.Ala602=)
c.1706C= (p.Ala569=)
n.1549C=
c.1568C= (p.Ala523=)
c.1373C= (p.Ala458=)
c.1910C= (p.Ala637=)
c.1811C= (p.Ala604=)
c.1682C= (p.Ala561=)
c.1673C= (p.Ala558=)
c.1478C= (p.Ala493=)
15g.50242444G>TCA392377037HDCc.1805C>A (p.Ala602Asp)
c.1706C>A (p.Ala569Asp)
n.1549C>A
c.1568C>A (p.Ala523Asp)
c.1373C>A (p.Ala458Asp)
c.1910C>A (p.Ala637Asp)
c.1811C>A (p.Ala604Asp)
c.1682C>A (p.Ala561Asp)
c.1673C>A (p.Ala558Asp)
c.1478C>A (p.Ala493Asp)
15g.50242445C>ACA392377038HDCc.1804G>T (p.Ala602Ser)
c.1705G>T (p.Ala569Ser)
n.1548G>T
c.1567G>T (p.Ala523Ser)
c.1372G>T (p.Ala458Ser)
c.1909G>T (p.Ala637Ser)
c.1810G>T (p.Ala604Ser)
c.1681G>T (p.Ala561Ser)
c.1672G>T (p.Ala558Ser)
c.1477G>T (p.Ala493Ser)
gnomAD v4
15g.50242445C>GCA392377039HDCc.1804G>C (p.Ala602Pro)
c.1705G>C (p.Ala569Pro)
n.1548G>C
c.1567G>C (p.Ala523Pro)
c.1372G>C (p.Ala458Pro)
c.1909G>C (p.Ala637Pro)
c.1810G>C (p.Ala604Pro)
c.1681G>C (p.Ala561Pro)
c.1672G>C (p.Ala558Pro)
c.1477G>C (p.Ala493Pro)
15g.50242445C>TCA392377040HDCc.1804G>A (p.Ala602Thr)
c.1705G>A (p.Ala569Thr)
n.1548G>A
c.1567G>A (p.Ala523Thr)
c.1372G>A (p.Ala458Thr)
c.1909G>A (p.Ala637Thr)
c.1810G>A (p.Ala604Thr)
c.1681G>A (p.Ala561Thr)
c.1672G>A (p.Ala558Thr)
c.1477G>A (p.Ala493Thr)
gnomAD v4 COSMIC
15g.50242446C>ACA392377041HDCc.1803G>T (p.Glu601Asp)
c.1704G>T (p.Glu568Asp)
n.1547G>T
c.1566G>T (p.Glu522Asp)
c.1371G>T (p.Glu457Asp)
c.1908G>T (p.Glu636Asp)
c.1809G>T (p.Glu603Asp)
c.1680G>T (p.Glu560Asp)
c.1671G>T (p.Glu557Asp)
c.1476G>T (p.Glu492Asp)
15g.50242446C>GCA392377042HDCc.1803G>C (p.Glu601Asp)
c.1704G>C (p.Glu568Asp)
n.1547G>C
c.1566G>C (p.Glu522Asp)
c.1371G>C (p.Glu457Asp)
c.1908G>C (p.Glu636Asp)
c.1809G>C (p.Glu603Asp)
c.1680G>C (p.Glu560Asp)
c.1671G>C (p.Glu557Asp)
c.1476G>C (p.Glu492Asp)
15g.50242446C>TCA490314072HDCc.1803G>A (p.Glu601=)
c.1704G>A (p.Glu568=)
n.1547G>A
c.1566G>A (p.Glu522=)
c.1371G>A (p.Glu457=)
c.1908G>A (p.Glu636=)
c.1809G>A (p.Glu603=)
c.1680G>A (p.Glu560=)
c.1671G>A (p.Glu557=)
c.1476G>A (p.Glu492=)
15g.50242447T>ACA392377045HDCc.1802A>T (p.Glu601Val)
c.1703A>T (p.Glu568Val)
n.1546A>T
c.1565A>T (p.Glu522Val)
c.1370A>T (p.Glu457Val)
c.1907A>T (p.Glu636Val)
c.1808A>T (p.Glu603Val)
c.1679A>T (p.Glu560Val)
c.1670A>T (p.Glu557Val)
c.1475A>T (p.Glu492Val)
15g.50242447T>CCA392377043HDCc.1802A>G (p.Glu601Gly)
c.1703A>G (p.Glu568Gly)
n.1546A>G
c.1565A>G (p.Glu522Gly)
c.1370A>G (p.Glu457Gly)
c.1907A>G (p.Glu636Gly)
c.1808A>G (p.Glu603Gly)
c.1679A>G (p.Glu560Gly)
c.1670A>G (p.Glu557Gly)
c.1475A>G (p.Glu492Gly)
15g.50242447T>GCA392377044HDCc.1802A>C (p.Glu601Ala)
c.1703A>C (p.Glu568Ala)
n.1546A>C
c.1565A>C (p.Glu522Ala)
c.1370A>C (p.Glu457Ala)
c.1907A>C (p.Glu636Ala)
c.1808A>C (p.Glu603Ala)
c.1679A>C (p.Glu560Ala)
c.1670A>C (p.Glu557Ala)
c.1475A>C (p.Glu492Ala)
15g.50242448C>ACA392377046HDCc.1801G>T (p.Glu601Ter)
c.1702G>T (p.Glu568Ter)
n.1545G>T
c.1564G>T (p.Glu522Ter)
c.1369G>T (p.Glu457Ter)
c.1906G>T (p.Glu636Ter)
c.1807G>T (p.Glu603Ter)
c.1678G>T (p.Glu560Ter)
c.1669G>T (p.Glu557Ter)
c.1474G>T (p.Glu492Ter)
15g.50242448C=CA2176326596HDCc.1801G= (p.Glu601=)
c.1702G= (p.Glu568=)
n.1545G=
c.1564G= (p.Glu522=)
c.1369G= (p.Glu457=)
c.1906G= (p.Glu636=)
c.1807G= (p.Glu603=)
c.1678G= (p.Glu560=)
c.1669G= (p.Glu557=)
c.1474G= (p.Glu492=)
15g.50242448C>GCA392377048HDCc.1801G>C (p.Glu601Gln)
c.1702G>C (p.Glu568Gln)
n.1545G>C
c.1564G>C (p.Glu522Gln)
c.1369G>C (p.Glu457Gln)
c.1906G>C (p.Glu636Gln)
c.1807G>C (p.Glu603Gln)
c.1678G>C (p.Glu560Gln)
c.1669G>C (p.Glu557Gln)
c.1474G>C (p.Glu492Gln)
15g.50242448C>TCA392377047HDCc.1801G>A (p.Glu601Lys)
c.1702G>A (p.Glu568Lys)
n.1545G>A
c.1564G>A (p.Glu522Lys)
c.1369G>A (p.Glu457Lys)
c.1906G>A (p.Glu636Lys)
c.1807G>A (p.Glu603Lys)
c.1678G>A (p.Glu560Lys)
c.1669G>A (p.Glu557Lys)
c.1474G>A (p.Glu492Lys)
dbSNP
15g.50242449T>ACA490314078HDCc.1800A>T (p.Thr600=)
c.1701A>T (p.Thr567=)
n.1544A>T
c.1563A>T (p.Thr521=)
c.1368A>T (p.Thr456=)
c.1905A>T (p.Thr635=)
c.1806A>T (p.Thr602=)
c.1677A>T (p.Thr559=)
c.1668A>T (p.Thr556=)
c.1473A>T (p.Thr491=)
15g.50242449T>CCA490314081HDCc.1800A>G (p.Thr600=)
c.1701A>G (p.Thr567=)
n.1544A>G
c.1563A>G (p.Thr521=)
c.1368A>G (p.Thr456=)
c.1905A>G (p.Thr635=)
c.1806A>G (p.Thr602=)
c.1677A>G (p.Thr559=)
c.1668A>G (p.Thr556=)
c.1473A>G (p.Thr491=)
15g.50242449T>GCA490314080HDCc.1800A>C (p.Thr600=)
c.1701A>C (p.Thr567=)
n.1544A>C
c.1563A>C (p.Thr521=)
c.1368A>C (p.Thr456=)
c.1905A>C (p.Thr635=)
c.1806A>C (p.Thr602=)
c.1677A>C (p.Thr559=)
c.1668A>C (p.Thr556=)
c.1473A>C (p.Thr491=)
15g.50242450G>ACA7554489HDCc.1799C>T (p.Thr600Ile)
c.1700C>T (p.Thr567Ile)
n.1543C>T
c.1562C>T (p.Thr521Ile)
c.1367C>T (p.Thr456Ile)
c.1904C>T (p.Thr635Ile)
c.1805C>T (p.Thr602Ile)
c.1676C>T (p.Thr559Ile)
c.1667C>T (p.Thr556Ile)
c.1472C>T (p.Thr491Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242450G>CCA392377049HDCc.1799C>G (p.Thr600Arg)
c.1700C>G (p.Thr567Arg)
n.1543C>G
c.1562C>G (p.Thr521Arg)
c.1367C>G (p.Thr456Arg)
c.1904C>G (p.Thr635Arg)
c.1805C>G (p.Thr602Arg)
c.1676C>G (p.Thr559Arg)
c.1667C>G (p.Thr556Arg)
c.1472C>G (p.Thr491Arg)
15g.50242450G=CA2176326597HDCc.1799C= (p.Thr600=)
c.1700C= (p.Thr567=)
n.1543C=
c.1562C= (p.Thr521=)
c.1367C= (p.Thr456=)
c.1904C= (p.Thr635=)
c.1805C= (p.Thr602=)
c.1676C= (p.Thr559=)
c.1667C= (p.Thr556=)
c.1472C= (p.Thr491=)
15g.50242450G>TCA392377050HDCc.1799C>A (p.Thr600Lys)
c.1700C>A (p.Thr567Lys)
n.1543C>A
c.1562C>A (p.Thr521Lys)
c.1367C>A (p.Thr456Lys)
c.1904C>A (p.Thr635Lys)
c.1805C>A (p.Thr602Lys)
c.1676C>A (p.Thr559Lys)
c.1667C>A (p.Thr556Lys)
c.1472C>A (p.Thr491Lys)
15g.50242451T>ACA392377051HDCc.1798A>T (p.Thr600Ser)
c.1699A>T (p.Thr567Ser)
n.1542A>T
c.1561A>T (p.Thr521Ser)
c.1366A>T (p.Thr456Ser)
c.1903A>T (p.Thr635Ser)
c.1804A>T (p.Thr602Ser)
c.1675A>T (p.Thr559Ser)
c.1666A>T (p.Thr556Ser)
c.1471A>T (p.Thr491Ser)
15g.50242451T>CCA392377052HDCc.1798A>G (p.Thr600Ala)
c.1699A>G (p.Thr567Ala)
n.1542A>G
c.1561A>G (p.Thr521Ala)
c.1366A>G (p.Thr456Ala)
c.1903A>G (p.Thr635Ala)
c.1804A>G (p.Thr602Ala)
c.1675A>G (p.Thr559Ala)
c.1666A>G (p.Thr556Ala)
c.1471A>G (p.Thr491Ala)
15g.50242451T>GCA392377053HDCc.1798A>C (p.Thr600Pro)
c.1699A>C (p.Thr567Pro)
n.1542A>C
c.1561A>C (p.Thr521Pro)
c.1366A>C (p.Thr456Pro)
c.1903A>C (p.Thr635Pro)
c.1804A>C (p.Thr602Pro)
c.1675A>C (p.Thr559Pro)
c.1666A>C (p.Thr556Pro)
c.1471A>C (p.Thr491Pro)
15g.50242452G>ACA490314084HDCc.1797C>T (p.Pro599=)
c.1698C>T (p.Pro566=)
n.1541C>T
c.1560C>T (p.Pro520=)
c.1365C>T (p.Pro455=)
c.1902C>T (p.Pro634=)
c.1803C>T (p.Pro601=)
c.1674C>T (p.Pro558=)
c.1665C>T (p.Pro555=)
c.1470C>T (p.Pro490=)
dbSNP gnomAD v3 gnomAD v4
15g.50242452G>CCA490314086HDCc.1797C>G (p.Pro599=)
c.1698C>G (p.Pro566=)
n.1541C>G
c.1560C>G (p.Pro520=)
c.1365C>G (p.Pro455=)
c.1902C>G (p.Pro634=)
c.1803C>G (p.Pro601=)
c.1674C>G (p.Pro558=)
c.1665C>G (p.Pro555=)
c.1470C>G (p.Pro490=)
15g.50242452G=CA2176326598HDCc.1797C= (p.Pro599=)
c.1698C= (p.Pro566=)
n.1541C=
c.1560C= (p.Pro520=)
c.1365C= (p.Pro455=)
c.1902C= (p.Pro634=)
c.1803C= (p.Pro601=)
c.1674C= (p.Pro558=)
c.1665C= (p.Pro555=)
c.1470C= (p.Pro490=)
15g.50242452G>TCA490314088HDCc.1797C>A (p.Pro599=)
c.1698C>A (p.Pro566=)
n.1541C>A
c.1560C>A (p.Pro520=)
c.1365C>A (p.Pro455=)
c.1902C>A (p.Pro634=)
c.1803C>A (p.Pro601=)
c.1674C>A (p.Pro558=)
c.1665C>A (p.Pro555=)
c.1470C>A (p.Pro490=)
15g.50242453G>ACA392377054HDCc.1796C>T (p.Pro599Leu)
c.1697C>T (p.Pro566Leu)
n.1540C>T
c.1559C>T (p.Pro520Leu)
c.1364C>T (p.Pro455Leu)
c.1901C>T (p.Pro634Leu)
c.1802C>T (p.Pro601Leu)
c.1673C>T (p.Pro558Leu)
c.1664C>T (p.Pro555Leu)
c.1469C>T (p.Pro490Leu)
gnomAD v4
15g.50242453G>CCA392377055HDCc.1796C>G (p.Pro599Arg)
c.1697C>G (p.Pro566Arg)
n.1540C>G
c.1559C>G (p.Pro520Arg)
c.1364C>G (p.Pro455Arg)
c.1901C>G (p.Pro634Arg)
c.1802C>G (p.Pro601Arg)
c.1673C>G (p.Pro558Arg)
c.1664C>G (p.Pro555Arg)
c.1469C>G (p.Pro490Arg)
15g.50242453G>TCA392377056HDCc.1796C>A (p.Pro599His)
c.1697C>A (p.Pro566His)
n.1540C>A
c.1559C>A (p.Pro520His)
c.1364C>A (p.Pro455His)
c.1901C>A (p.Pro634His)
c.1802C>A (p.Pro601His)
c.1673C>A (p.Pro558His)
c.1664C>A (p.Pro555His)
c.1469C>A (p.Pro490His)
15g.50242454G>ACA392377057HDCc.1795C>T (p.Pro599Ser)
c.1696C>T (p.Pro566Ser)
n.1539C>T
c.1558C>T (p.Pro520Ser)
c.1363C>T (p.Pro455Ser)
c.1900C>T (p.Pro634Ser)
c.1801C>T (p.Pro601Ser)
c.1672C>T (p.Pro558Ser)
c.1663C>T (p.Pro555Ser)
c.1468C>T (p.Pro490Ser)
dbSNP gnomAD v4
15g.50242454G>CCA392377058HDCc.1795C>G (p.Pro599Ala)
c.1696C>G (p.Pro566Ala)
n.1539C>G
c.1558C>G (p.Pro520Ala)
c.1363C>G (p.Pro455Ala)
c.1900C>G (p.Pro634Ala)
c.1801C>G (p.Pro601Ala)
c.1672C>G (p.Pro558Ala)
c.1663C>G (p.Pro555Ala)
c.1468C>G (p.Pro490Ala)
gnomAD v4
15g.50242454G=CA2176326599HDCc.1795C= (p.Pro599=)
c.1696C= (p.Pro566=)
n.1539C=
c.1558C= (p.Pro520=)
c.1363C= (p.Pro455=)
c.1900C= (p.Pro634=)
c.1801C= (p.Pro601=)
c.1672C= (p.Pro558=)
c.1663C= (p.Pro555=)
c.1468C= (p.Pro490=)
15g.50242454G>TCA392377059HDCc.1795C>A (p.Pro599Thr)
c.1696C>A (p.Pro566Thr)
n.1539C>A
c.1558C>A (p.Pro520Thr)
c.1363C>A (p.Pro455Thr)
c.1900C>A (p.Pro634Thr)
c.1801C>A (p.Pro601Thr)
c.1672C>A (p.Pro558Thr)
c.1663C>A (p.Pro555Thr)
c.1468C>A (p.Pro490Thr)
15g.50242455C>ACA490314090HDCc.1794G>T (p.Leu598=)
c.1695G>T (p.Leu565=)
n.1538G>T
c.1557G>T (p.Leu519=)
c.1362G>T (p.Leu454=)
c.1899G>T (p.Leu633=)
c.1800G>T (p.Leu600=)
c.1671G>T (p.Leu557=)
c.1662G>T (p.Leu554=)
c.1467G>T (p.Leu489=)
15g.50242455C=CA2176326600HDCc.1794G= (p.Leu598=)
c.1695G= (p.Leu565=)
n.1538G=
c.1557G= (p.Leu519=)
c.1362G= (p.Leu454=)
c.1899G= (p.Leu633=)
c.1800G= (p.Leu600=)
c.1671G= (p.Leu557=)
c.1662G= (p.Leu554=)
c.1467G= (p.Leu489=)
15g.50242455C>GCA490314091HDCc.1794G>C (p.Leu598=)
c.1695G>C (p.Leu565=)
n.1538G>C
c.1557G>C (p.Leu519=)
c.1362G>C (p.Leu454=)
c.1899G>C (p.Leu633=)
c.1800G>C (p.Leu600=)
c.1671G>C (p.Leu557=)
c.1662G>C (p.Leu554=)
c.1467G>C (p.Leu489=)
15g.50242455C>TCA7554490HDCc.1794G>A (p.Leu598=)
c.1695G>A (p.Leu565=)
n.1538G>A
c.1557G>A (p.Leu519=)
c.1362G>A (p.Leu454=)
c.1899G>A (p.Leu633=)
c.1800G>A (p.Leu600=)
c.1671G>A (p.Leu557=)
c.1662G>A (p.Leu554=)
c.1467G>A (p.Leu489=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242456A>CCA392377060HDCc.1793T>G (p.Leu598Arg)
c.1694T>G (p.Leu565Arg)
n.1537T>G
c.1556T>G (p.Leu519Arg)
c.1361T>G (p.Leu454Arg)
c.1898T>G (p.Leu633Arg)
c.1799T>G (p.Leu600Arg)
c.1670T>G (p.Leu557Arg)
c.1661T>G (p.Leu554Arg)
c.1466T>G (p.Leu489Arg)
15g.50242456A>GCA392377061HDCc.1793T>C (p.Leu598Pro)
c.1694T>C (p.Leu565Pro)
n.1537T>C
c.1556T>C (p.Leu519Pro)
c.1361T>C (p.Leu454Pro)
c.1898T>C (p.Leu633Pro)
c.1799T>C (p.Leu600Pro)
c.1670T>C (p.Leu557Pro)
c.1661T>C (p.Leu554Pro)
c.1466T>C (p.Leu489Pro)
15g.50242456A>TCA392377062HDCc.1793T>A (p.Leu598Gln)
c.1694T>A (p.Leu565Gln)
n.1537T>A
c.1556T>A (p.Leu519Gln)
c.1361T>A (p.Leu454Gln)
c.1898T>A (p.Leu633Gln)
c.1799T>A (p.Leu600Gln)
c.1670T>A (p.Leu557Gln)
c.1661T>A (p.Leu554Gln)
c.1466T>A (p.Leu489Gln)
gnomAD v4
15g.50242457G>ACA7554491HDCc.1792C>T (p.Leu598=)
c.1693C>T (p.Leu565=)
n.1536C>T
c.1555C>T (p.Leu519=)
c.1360C>T (p.Leu454=)
c.1897C>T (p.Leu633=)
c.1798C>T (p.Leu600=)
c.1669C>T (p.Leu557=)
c.1660C>T (p.Leu554=)
c.1465C>T (p.Leu489=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242457G>CCA392377063HDCc.1792C>G (p.Leu598Val)
c.1693C>G (p.Leu565Val)
n.1536C>G
c.1555C>G (p.Leu519Val)
c.1360C>G (p.Leu454Val)
c.1897C>G (p.Leu633Val)
c.1798C>G (p.Leu600Val)
c.1669C>G (p.Leu557Val)
c.1660C>G (p.Leu554Val)
c.1465C>G (p.Leu489Val)
15g.50242457G=CA2176326601HDCc.1792C= (p.Leu598=)
c.1693C= (p.Leu565=)
n.1536C=
c.1555C= (p.Leu519=)
c.1360C= (p.Leu454=)
c.1897C= (p.Leu633=)
c.1798C= (p.Leu600=)
c.1669C= (p.Leu557=)
c.1660C= (p.Leu554=)
c.1465C= (p.Leu489=)
15g.50242457G>TCA392377064HDCc.1792C>A (p.Leu598Met)
c.1693C>A (p.Leu565Met)
n.1536C>A
c.1555C>A (p.Leu519Met)
c.1360C>A (p.Leu454Met)
c.1897C>A (p.Leu633Met)
c.1798C>A (p.Leu600Met)
c.1669C>A (p.Leu557Met)
c.1660C>A (p.Leu554Met)
c.1465C>A (p.Leu489Met)
15g.50242458T>ACA490314095HDCc.1791A>T (p.Pro597=)
c.1692A>T (p.Pro564=)
n.1535A>T
c.1554A>T (p.Pro518=)
c.1359A>T (p.Pro453=)
c.1896A>T (p.Pro632=)
c.1797A>T (p.Pro599=)
c.1668A>T (p.Pro556=)
c.1659A>T (p.Pro553=)
c.1464A>T (p.Pro488=)
15g.50242458T>CCA490314096HDCc.1791A>G (p.Pro597=)
c.1692A>G (p.Pro564=)
n.1535A>G
c.1554A>G (p.Pro518=)
c.1359A>G (p.Pro453=)
c.1896A>G (p.Pro632=)
c.1797A>G (p.Pro599=)
c.1668A>G (p.Pro556=)
c.1659A>G (p.Pro553=)
c.1464A>G (p.Pro488=)
15g.50242458T>GCA490314097HDCc.1791A>C (p.Pro597=)
c.1692A>C (p.Pro564=)
n.1535A>C
c.1554A>C (p.Pro518=)
c.1359A>C (p.Pro453=)
c.1896A>C (p.Pro632=)
c.1797A>C (p.Pro599=)
c.1668A>C (p.Pro556=)
c.1659A>C (p.Pro553=)
c.1464A>C (p.Pro488=)
15g.50242459G>ACA392377065HDCc.1790C>T (p.Pro597Leu)
c.1691C>T (p.Pro564Leu)
n.1534C>T
c.1553C>T (p.Pro518Leu)
c.1358C>T (p.Pro453Leu)
c.1895C>T (p.Pro632Leu)
c.1796C>T (p.Pro599Leu)
c.1667C>T (p.Pro556Leu)
c.1658C>T (p.Pro553Leu)
c.1463C>T (p.Pro488Leu)
gnomAD v4
15g.50242459G>CCA392377066HDCc.1790C>G (p.Pro597Arg)
c.1691C>G (p.Pro564Arg)
n.1534C>G
c.1553C>G (p.Pro518Arg)
c.1358C>G (p.Pro453Arg)
c.1895C>G (p.Pro632Arg)
c.1796C>G (p.Pro599Arg)
c.1667C>G (p.Pro556Arg)
c.1658C>G (p.Pro553Arg)
c.1463C>G (p.Pro488Arg)
15g.50242459G>TCA392377067HDCc.1790C>A (p.Pro597Gln)
c.1691C>A (p.Pro564Gln)
n.1534C>A
c.1553C>A (p.Pro518Gln)
c.1358C>A (p.Pro453Gln)
c.1895C>A (p.Pro632Gln)
c.1796C>A (p.Pro599Gln)
c.1667C>A (p.Pro556Gln)
c.1658C>A (p.Pro553Gln)
c.1463C>A (p.Pro488Gln)
15g.50242460G>ACA392377068HDCc.1789C>T (p.Pro597Ser)
c.1690C>T (p.Pro564Ser)
n.1533C>T
c.1552C>T (p.Pro518Ser)
c.1357C>T (p.Pro453Ser)
c.1894C>T (p.Pro632Ser)
c.1795C>T (p.Pro599Ser)
c.1666C>T (p.Pro556Ser)
c.1657C>T (p.Pro553Ser)
c.1462C>T (p.Pro488Ser)
15g.50242460G>CCA392377069HDCc.1789C>G (p.Pro597Ala)
c.1690C>G (p.Pro564Ala)
n.1533C>G
c.1552C>G (p.Pro518Ala)
c.1357C>G (p.Pro453Ala)
c.1894C>G (p.Pro632Ala)
c.1795C>G (p.Pro599Ala)
c.1666C>G (p.Pro556Ala)
c.1657C>G (p.Pro553Ala)
c.1462C>G (p.Pro488Ala)
dbSNP
15g.50242460G=CA2176326602HDCc.1789C= (p.Pro597=)
c.1690C= (p.Pro564=)
n.1533C=
c.1552C= (p.Pro518=)
c.1357C= (p.Pro453=)
c.1894C= (p.Pro632=)
c.1795C= (p.Pro599=)
c.1666C= (p.Pro556=)
c.1657C= (p.Pro553=)
c.1462C= (p.Pro488=)
15g.50242460G>TCA392377070HDCc.1789C>A (p.Pro597Thr)
c.1690C>A (p.Pro564Thr)
n.1533C>A
c.1552C>A (p.Pro518Thr)
c.1357C>A (p.Pro453Thr)
c.1894C>A (p.Pro632Thr)
c.1795C>A (p.Pro599Thr)
c.1666C>A (p.Pro556Thr)
c.1657C>A (p.Pro553Thr)
c.1462C>A (p.Pro488Thr)
15g.50242461C>ACA392377071HDCc.1788G>T (p.Lys596Asn)
c.1689G>T (p.Lys563Asn)
n.1532G>T
c.1551G>T (p.Lys517Asn)
c.1356G>T (p.Lys452Asn)
c.1893G>T (p.Lys631Asn)
c.1794G>T (p.Lys598Asn)
c.1665G>T (p.Lys555Asn)
c.1656G>T (p.Lys552Asn)
c.1461G>T (p.Lys487Asn)
15g.50242461C=CA2176326603HDCc.1788G= (p.Lys596=)
c.1689G= (p.Lys563=)
n.1532G=
c.1551G= (p.Lys517=)
c.1356G= (p.Lys452=)
c.1893G= (p.Lys631=)
c.1794G= (p.Lys598=)
c.1665G= (p.Lys555=)
c.1656G= (p.Lys552=)
c.1461G= (p.Lys487=)
15g.50242461C>GCA7554492HDCc.1788G>C (p.Lys596Asn)
c.1689G>C (p.Lys563Asn)
n.1532G>C
c.1551G>C (p.Lys517Asn)
c.1356G>C (p.Lys452Asn)
c.1893G>C (p.Lys631Asn)
c.1794G>C (p.Lys598Asn)
c.1665G>C (p.Lys555Asn)
c.1656G>C (p.Lys552Asn)
c.1461G>C (p.Lys487Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242461C>TCA490314099HDCc.1788G>A (p.Lys596=)
c.1689G>A (p.Lys563=)
n.1532G>A
c.1551G>A (p.Lys517=)
c.1356G>A (p.Lys452=)
c.1893G>A (p.Lys631=)
c.1794G>A (p.Lys598=)
c.1665G>A (p.Lys555=)
c.1656G>A (p.Lys552=)
c.1461G>A (p.Lys487=)
gnomAD v4
15g.50242462T>ACA392377073HDCc.1787A>T (p.Lys596Met)
c.1688A>T (p.Lys563Met)
n.1531A>T
c.1550A>T (p.Lys517Met)
c.1355A>T (p.Lys452Met)
c.1892A>T (p.Lys631Met)
c.1793A>T (p.Lys598Met)
c.1664A>T (p.Lys555Met)
c.1655A>T (p.Lys552Met)
c.1460A>T (p.Lys487Met)
15g.50242462T>CCA7554493HDCc.1787A>G (p.Lys596Arg)
c.1688A>G (p.Lys563Arg)
n.1531A>G
c.1550A>G (p.Lys517Arg)
c.1355A>G (p.Lys452Arg)
c.1892A>G (p.Lys631Arg)
c.1793A>G (p.Lys598Arg)
c.1664A>G (p.Lys555Arg)
c.1655A>G (p.Lys552Arg)
c.1460A>G (p.Lys487Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.50242462T>GCA392377072HDCc.1787A>C (p.Lys596Thr)
c.1688A>C (p.Lys563Thr)
n.1531A>C
c.1550A>C (p.Lys517Thr)
c.1355A>C (p.Lys452Thr)
c.1892A>C (p.Lys631Thr)
c.1793A>C (p.Lys598Thr)
c.1664A>C (p.Lys555Thr)
c.1655A>C (p.Lys552Thr)
c.1460A>C (p.Lys487Thr)
15g.50242462T=CA2176326604HDCc.1787A= (p.Lys596=)
c.1688A= (p.Lys563=)
n.1531A=
c.1550A= (p.Lys517=)
c.1355A= (p.Lys452=)
c.1892A= (p.Lys631=)
c.1793A= (p.Lys598=)
c.1664A= (p.Lys555=)
c.1655A= (p.Lys552=)
c.1460A= (p.Lys487=)
15g.50242463T>ACA392377074HDCc.1786A>T (p.Lys596Ter)
c.1687A>T (p.Lys563Ter)
n.1530A>T
c.1549A>T (p.Lys517Ter)
c.1354A>T (p.Lys452Ter)
c.1891A>T (p.Lys631Ter)
c.1792A>T (p.Lys598Ter)
c.1663A>T (p.Lys555Ter)
c.1654A>T (p.Lys552Ter)
c.1459A>T (p.Lys487Ter)
15g.50242463T>CCA392377075HDCc.1786A>G (p.Lys596Glu)
c.1687A>G (p.Lys563Glu)
n.1530A>G
c.1549A>G (p.Lys517Glu)
c.1354A>G (p.Lys452Glu)
c.1891A>G (p.Lys631Glu)
c.1792A>G (p.Lys598Glu)
c.1663A>G (p.Lys555Glu)
c.1654A>G (p.Lys552Glu)
c.1459A>G (p.Lys487Glu)
15g.50242463T>GCA7554494HDCc.1786A>C (p.Lys596Gln)
c.1687A>C (p.Lys563Gln)
n.1530A>C
c.1549A>C (p.Lys517Gln)
c.1354A>C (p.Lys452Gln)
c.1891A>C (p.Lys631Gln)
c.1792A>C (p.Lys598Gln)
c.1663A>C (p.Lys555Gln)
c.1654A>C (p.Lys552Gln)
c.1459A>C (p.Lys487Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.50242463T=CA2176326605HDCc.1786A= (p.Lys596=)
c.1687A= (p.Lys563=)
n.1530A=
c.1549A= (p.Lys517=)
c.1354A= (p.Lys452=)
c.1891A= (p.Lys631=)
c.1792A= (p.Lys598=)
c.1663A= (p.Lys555=)
c.1654A= (p.Lys552=)
c.1459A= (p.Lys487=)
15g.50242464C>ACA392377076HDCc.1785G>T (p.Gln595His)
c.1686G>T (p.Gln562His)
n.1529G>T
c.1548G>T (p.Gln516His)
c.1353G>T (p.Gln451His)
c.1890G>T (p.Gln630His)
c.1791G>T (p.Gln597His)
c.1662G>T (p.Gln554His)
c.1653G>T (p.Gln551His)
c.1458G>T (p.Gln486His)
15g.50242464C=CA2176326606HDCc.1785G= (p.Gln595=)
c.1686G= (p.Gln562=)
n.1529G=
c.1548G= (p.Gln516=)
c.1353G= (p.Gln451=)
c.1890G= (p.Gln630=)
c.1791G= (p.Gln597=)
c.1662G= (p.Gln554=)
c.1653G= (p.Gln551=)
c.1458G= (p.Gln486=)
15g.50242464C>GCA392377077HDCc.1785G>C (p.Gln595His)
c.1686G>C (p.Gln562His)
n.1529G>C
c.1548G>C (p.Gln516His)
c.1353G>C (p.Gln451His)
c.1890G>C (p.Gln630His)
c.1791G>C (p.Gln597His)
c.1662G>C (p.Gln554His)
c.1653G>C (p.Gln551His)
c.1458G>C (p.Gln486His)
15g.50242464C>TCA490314101HDCc.1785G>A (p.Gln595=)
c.1686G>A (p.Gln562=)
n.1529G>A
c.1548G>A (p.Gln516=)
c.1353G>A (p.Gln451=)
c.1890G>A (p.Gln630=)
c.1791G>A (p.Gln597=)
c.1662G>A (p.Gln554=)
c.1653G>A (p.Gln551=)
c.1458G>A (p.Gln486=)
dbSNP
15g.50242465T>ACA392377080HDCc.1784A>T (p.Gln595Leu)
c.1685A>T (p.Gln562Leu)
n.1528A>T
c.1547A>T (p.Gln516Leu)
c.1352A>T (p.Gln451Leu)
c.1889A>T (p.Gln630Leu)
c.1790A>T (p.Gln597Leu)
c.1661A>T (p.Gln554Leu)
c.1652A>T (p.Gln551Leu)
c.1457A>T (p.Gln486Leu)
15g.50242465T>CCA392377079HDCc.1784A>G (p.Gln595Arg)
c.1685A>G (p.Gln562Arg)
n.1528A>G
c.1547A>G (p.Gln516Arg)
c.1352A>G (p.Gln451Arg)
c.1889A>G (p.Gln630Arg)
c.1790A>G (p.Gln597Arg)
c.1661A>G (p.Gln554Arg)
c.1652A>G (p.Gln551Arg)
c.1457A>G (p.Gln486Arg)
15g.50242465T>GCA392377078HDCc.1784A>C (p.Gln595Pro)
c.1685A>C (p.Gln562Pro)
n.1528A>C
c.1547A>C (p.Gln516Pro)
c.1352A>C (p.Gln451Pro)
c.1889A>C (p.Gln630Pro)
c.1790A>C (p.Gln597Pro)
c.1661A>C (p.Gln554Pro)
c.1652A>C (p.Gln551Pro)
c.1457A>C (p.Gln486Pro)
15g.50242466G>ACA392377081HDCc.1783C>T (p.Gln595Ter)
c.1684C>T (p.Gln562Ter)
n.1527C>T
c.1546C>T (p.Gln516Ter)
c.1351C>T (p.Gln451Ter)
c.1888C>T (p.Gln630Ter)
c.1789C>T (p.Gln597Ter)
c.1660C>T (p.Gln554Ter)
c.1651C>T (p.Gln551Ter)
c.1456C>T (p.Gln486Ter)
15g.50242466G>CCA392377082HDCc.1783C>G (p.Gln595Glu)
c.1684C>G (p.Gln562Glu)
n.1527C>G
c.1546C>G (p.Gln516Glu)
c.1351C>G (p.Gln451Glu)
c.1888C>G (p.Gln630Glu)
c.1789C>G (p.Gln597Glu)
c.1660C>G (p.Gln554Glu)
c.1651C>G (p.Gln551Glu)
c.1456C>G (p.Gln486Glu)
15g.50242466G>TCA392377083HDCc.1783C>A (p.Gln595Lys)
c.1684C>A (p.Gln562Lys)
n.1527C>A
c.1546C>A (p.Gln516Lys)
c.1351C>A (p.Gln451Lys)
c.1888C>A (p.Gln630Lys)
c.1789C>A (p.Gln597Lys)
c.1660C>A (p.Gln554Lys)
c.1651C>A (p.Gln551Lys)
c.1456C>A (p.Gln486Lys)
15g.50242467A>CCA490314103HDCc.1782T>G (p.Ala594=)
c.1683T>G (p.Ala561=)
n.1526T>G
c.1545T>G (p.Ala515=)
c.1350T>G (p.Ala450=)
c.1887T>G (p.Ala629=)
c.1788T>G (p.Ala596=)
c.1659T>G (p.Ala553=)
c.1650T>G (p.Ala550=)
c.1455T>G (p.Ala485=)
15g.50242467A>GCA490314105HDCc.1782T>C (p.Ala594=)
c.1683T>C (p.Ala561=)
n.1526T>C
c.1545T>C (p.Ala515=)
c.1350T>C (p.Ala450=)
c.1887T>C (p.Ala629=)
c.1788T>C (p.Ala596=)
c.1659T>C (p.Ala553=)
c.1650T>C (p.Ala550=)
c.1455T>C (p.Ala485=)
15g.50242467A>TCA490314106HDCc.1782T>A (p.Ala594=)
c.1683T>A (p.Ala561=)
n.1526T>A
c.1545T>A (p.Ala515=)
c.1350T>A (p.Ala450=)
c.1887T>A (p.Ala629=)
c.1788T>A (p.Ala596=)
c.1659T>A (p.Ala553=)
c.1650T>A (p.Ala550=)
c.1455T>A (p.Ala485=)
15g.50242468G>ACA392377084HDCc.1781C>T (p.Ala594Val)
c.1682C>T (p.Ala561Val)
n.1525C>T
c.1544C>T (p.Ala515Val)
c.1349C>T (p.Ala450Val)
c.1886C>T (p.Ala629Val)
c.1787C>T (p.Ala596Val)
c.1658C>T (p.Ala553Val)
c.1649C>T (p.Ala550Val)
c.1454C>T (p.Ala485Val)
gnomAD v4
15g.50242468G>CCA392377085HDCc.1781C>G (p.Ala594Gly)
c.1682C>G (p.Ala561Gly)
n.1525C>G
c.1544C>G (p.Ala515Gly)
c.1349C>G (p.Ala450Gly)
c.1886C>G (p.Ala629Gly)
c.1787C>G (p.Ala596Gly)
c.1658C>G (p.Ala553Gly)
c.1649C>G (p.Ala550Gly)
c.1454C>G (p.Ala485Gly)
15g.50242468G>TCA392377086HDCc.1781C>A (p.Ala594Asp)
c.1682C>A (p.Ala561Asp)
n.1525C>A
c.1544C>A (p.Ala515Asp)
c.1349C>A (p.Ala450Asp)
c.1886C>A (p.Ala629Asp)
c.1787C>A (p.Ala596Asp)
c.1658C>A (p.Ala553Asp)
c.1649C>A (p.Ala550Asp)
c.1454C>A (p.Ala485Asp)
15g.50242469C>ACA392377087HDCc.1780G>T (p.Ala594Ser)
c.1681G>T (p.Ala561Ser)
n.1524G>T
c.1543G>T (p.Ala515Ser)
c.1348G>T (p.Ala450Ser)
c.1885G>T (p.Ala629Ser)
c.1786G>T (p.Ala596Ser)
c.1657G>T (p.Ala553Ser)
c.1648G>T (p.Ala550Ser)
c.1453G>T (p.Ala485Ser)
15g.50242469C>GCA392377089HDCc.1780G>C (p.Ala594Pro)
c.1681G>C (p.Ala561Pro)
n.1524G>C
c.1543G>C (p.Ala515Pro)
c.1348G>C (p.Ala450Pro)
c.1885G>C (p.Ala629Pro)
c.1786G>C (p.Ala596Pro)
c.1657G>C (p.Ala553Pro)
c.1648G>C (p.Ala550Pro)
c.1453G>C (p.Ala485Pro)
15g.50242469C>TCA392377088HDCc.1780G>A (p.Ala594Thr)
c.1681G>A (p.Ala561Thr)
n.1524G>A
c.1543G>A (p.Ala515Thr)
c.1348G>A (p.Ala450Thr)
c.1885G>A (p.Ala629Thr)
c.1786G>A (p.Ala596Thr)
c.1657G>A (p.Ala553Thr)
c.1648G>A (p.Ala550Thr)
c.1453G>A (p.Ala485Thr)
COSMIC

Number of alleles fetched