Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.74801993G>ACA465615415TRPM6c.1914C>T (p.Ala638=)
c.1899C>T (p.Ala633=)
c.1821C>T (p.Ala607=)
c.1773C>T (p.Ala591=)
c.1680C>T (p.Ala560=)
c.1185C>T (p.Ala395=)
n.2152C>T
dbSNP gnomAD v3 gnomAD v4
9g.74801993G>CCA465615416TRPM6c.1914C>G (p.Ala638=)
c.1899C>G (p.Ala633=)
c.1821C>G (p.Ala607=)
c.1773C>G (p.Ala591=)
c.1680C>G (p.Ala560=)
c.1185C>G (p.Ala395=)
n.2152C>G
9g.74801993G=CA1856045886TRPM6c.1914C= (p.Ala638=)
c.1899C= (p.Ala633=)
c.1821C= (p.Ala607=)
c.1773C= (p.Ala591=)
c.1680C= (p.Ala560=)
c.1185C= (p.Ala395=)
n.2152C=
9g.74801993G>TCA465615417TRPM6c.1914C>A (p.Ala638=)
c.1899C>A (p.Ala633=)
c.1821C>A (p.Ala607=)
c.1773C>A (p.Ala591=)
c.1680C>A (p.Ala560=)
c.1185C>A (p.Ala395=)
n.2152C>A
9g.74801994G>ACA373688250TRPM6c.1913C>T (p.Ala638Val)
c.1898C>T (p.Ala633Val)
c.1820C>T (p.Ala607Val)
c.1772C>T (p.Ala591Val)
c.1679C>T (p.Ala560Val)
c.1184C>T (p.Ala395Val)
n.2151C>T
gnomAD v4 COSMIC COSMIC
9g.74801994G>CCA373688252TRPM6c.1913C>G (p.Ala638Gly)
c.1898C>G (p.Ala633Gly)
c.1820C>G (p.Ala607Gly)
c.1772C>G (p.Ala591Gly)
c.1679C>G (p.Ala560Gly)
c.1184C>G (p.Ala395Gly)
n.2151C>G
9g.74801994G>TCA373688243TRPM6c.1913C>A (p.Ala638Asp)
c.1898C>A (p.Ala633Asp)
c.1820C>A (p.Ala607Asp)
c.1772C>A (p.Ala591Asp)
c.1679C>A (p.Ala560Asp)
c.1184C>A (p.Ala395Asp)
n.2151C>A
9g.74801995C>ACA373688256TRPM6c.1912G>T (p.Ala638Ser)
c.1897G>T (p.Ala633Ser)
c.1819G>T (p.Ala607Ser)
c.1771G>T (p.Ala591Ser)
c.1678G>T (p.Ala560Ser)
c.1183G>T (p.Ala395Ser)
n.2150G>T
gnomAD v4
9g.74801995C>GCA373688258TRPM6c.1912G>C (p.Ala638Pro)
c.1897G>C (p.Ala633Pro)
c.1819G>C (p.Ala607Pro)
c.1771G>C (p.Ala591Pro)
c.1678G>C (p.Ala560Pro)
c.1183G>C (p.Ala395Pro)
n.2150G>C
9g.74801995C>TCA373688259TRPM6c.1912G>A (p.Ala638Thr)
c.1897G>A (p.Ala633Thr)
c.1819G>A (p.Ala607Thr)
c.1771G>A (p.Ala591Thr)
c.1678G>A (p.Ala560Thr)
c.1183G>A (p.Ala395Thr)
n.2150G>A
9g.74801996T>ACA373688261TRPM6c.1911A>T (p.Lys637Asn)
c.1896A>T (p.Lys632Asn)
c.1818A>T (p.Lys606Asn)
c.1770A>T (p.Lys590Asn)
c.1677A>T (p.Lys559Asn)
c.1182A>T (p.Lys394Asn)
n.2149A>T
9g.74801996T>CCA465615418TRPM6c.1911A>G (p.Lys637=)
c.1896A>G (p.Lys632=)
c.1818A>G (p.Lys606=)
c.1770A>G (p.Lys590=)
c.1677A>G (p.Lys559=)
c.1182A>G (p.Lys394=)
n.2149A>G
9g.74801996T>GCA373688263TRPM6c.1911A>C (p.Lys637Asn)
c.1896A>C (p.Lys632Asn)
c.1818A>C (p.Lys606Asn)
c.1770A>C (p.Lys590Asn)
c.1677A>C (p.Lys559Asn)
c.1182A>C (p.Lys394Asn)
n.2149A>C
9g.74801997T>ACA373688270TRPM6c.1910A>T (p.Lys637Ile)
c.1895A>T (p.Lys632Ile)
c.1817A>T (p.Lys606Ile)
c.1769A>T (p.Lys590Ile)
c.1676A>T (p.Lys559Ile)
c.1181A>T (p.Lys394Ile)
n.2148A>T
9g.74801997T>CCA373688266TRPM6c.1910A>G (p.Lys637Arg)
c.1895A>G (p.Lys632Arg)
c.1817A>G (p.Lys606Arg)
c.1769A>G (p.Lys590Arg)
c.1676A>G (p.Lys559Arg)
c.1181A>G (p.Lys394Arg)
n.2148A>G
9g.74801997T>GCA373688268TRPM6c.1910A>C (p.Lys637Thr)
c.1895A>C (p.Lys632Thr)
c.1817A>C (p.Lys606Thr)
c.1769A>C (p.Lys590Thr)
c.1676A>C (p.Lys559Thr)
c.1181A>C (p.Lys394Thr)
n.2148A>C
9g.74801998T>ACA373688274TRPM6c.1909A>T (p.Lys637Ter)
c.1894A>T (p.Lys632Ter)
c.1816A>T (p.Lys606Ter)
c.1768A>T (p.Lys590Ter)
c.1675A>T (p.Lys559Ter)
c.1180A>T (p.Lys394Ter)
n.2147A>T
9g.74801998T>CCA373688275TRPM6c.1909A>G (p.Lys637Glu)
c.1894A>G (p.Lys632Glu)
c.1816A>G (p.Lys606Glu)
c.1768A>G (p.Lys590Glu)
c.1675A>G (p.Lys559Glu)
c.1180A>G (p.Lys394Glu)
n.2147A>G
9g.74801998T>GCA373688278TRPM6c.1909A>C (p.Lys637Gln)
c.1894A>C (p.Lys632Gln)
c.1816A>C (p.Lys606Gln)
c.1768A>C (p.Lys590Gln)
c.1675A>C (p.Lys559Gln)
c.1180A>C (p.Lys394Gln)
n.2147A>C
9g.74801999A>CCA465615419TRPM6c.1908T>G (p.Val636=)
c.1893T>G (p.Val631=)
c.1815T>G (p.Val605=)
c.1767T>G (p.Val589=)
c.1674T>G (p.Val558=)
c.1179T>G (p.Val393=)
n.2146T>G
9g.74801999A>GCA465615421TRPM6c.1908T>C (p.Val636=)
c.1893T>C (p.Val631=)
c.1815T>C (p.Val605=)
c.1767T>C (p.Val589=)
c.1674T>C (p.Val558=)
c.1179T>C (p.Val393=)
n.2146T>C
9g.74801999A>TCA465615420TRPM6c.1908T>A (p.Val636=)
c.1893T>A (p.Val631=)
c.1815T>A (p.Val605=)
c.1767T>A (p.Val589=)
c.1674T>A (p.Val558=)
c.1179T>A (p.Val393=)
n.2146T>A
9g.74802000A>CCA373688279TRPM6c.1907T>G (p.Val636Gly)
c.1892T>G (p.Val631Gly)
c.1814T>G (p.Val605Gly)
c.1766T>G (p.Val589Gly)
c.1673T>G (p.Val558Gly)
c.1178T>G (p.Val393Gly)
n.2145T>G
9g.74802000A>GCA373688280TRPM6c.1907T>C (p.Val636Ala)
c.1892T>C (p.Val631Ala)
c.1814T>C (p.Val605Ala)
c.1766T>C (p.Val589Ala)
c.1673T>C (p.Val558Ala)
c.1178T>C (p.Val393Ala)
n.2145T>C
9g.74802000A>TCA373688281TRPM6c.1907T>A (p.Val636Asp)
c.1892T>A (p.Val631Asp)
c.1814T>A (p.Val605Asp)
c.1766T>A (p.Val589Asp)
c.1673T>A (p.Val558Asp)
c.1178T>A (p.Val393Asp)
n.2145T>A
9g.74802001C>ACA373688283TRPM6c.1906G>T (p.Val636Phe)
c.1891G>T (p.Val631Phe)
c.1813G>T (p.Val605Phe)
c.1765G>T (p.Val589Phe)
c.1672G>T (p.Val558Phe)
c.1177G>T (p.Val393Phe)
n.2144G>T
9g.74802001C>GCA373688285TRPM6c.1906G>C (p.Val636Leu)
c.1891G>C (p.Val631Leu)
c.1813G>C (p.Val605Leu)
c.1765G>C (p.Val589Leu)
c.1672G>C (p.Val558Leu)
c.1177G>C (p.Val393Leu)
n.2144G>C
9g.74802001C>TCA373688282TRPM6c.1906G>A (p.Val636Ile)
c.1891G>A (p.Val631Ile)
c.1813G>A (p.Val605Ile)
c.1765G>A (p.Val589Ile)
c.1672G>A (p.Val558Ile)
c.1177G>A (p.Val393Ile)
n.2144G>A
9g.74802002C>ACA465615422TRPM6c.1905G>T (p.Thr635=)
c.1890G>T (p.Thr630=)
c.1812G>T (p.Thr604=)
c.1764G>T (p.Thr588=)
c.1671G>T (p.Thr557=)
c.1176G>T (p.Thr392=)
n.2143G>T
9g.74802002C=CA1856045887TRPM6c.1905G= (p.Thr635=)
c.1890G= (p.Thr630=)
c.1812G= (p.Thr604=)
c.1764G= (p.Thr588=)
c.1671G= (p.Thr557=)
c.1176G= (p.Thr392=)
n.2143G=
9g.74802002C>GCA465615423TRPM6c.1905G>C (p.Thr635=)
c.1890G>C (p.Thr630=)
c.1812G>C (p.Thr604=)
c.1764G>C (p.Thr588=)
c.1671G>C (p.Thr557=)
c.1176G>C (p.Thr392=)
n.2143G>C
dbSNP gnomAD v3 gnomAD v4
9g.74802002C>TCA5084703TRPM6c.1905G>A (p.Thr635=)
c.1890G>A (p.Thr630=)
c.1812G>A (p.Thr604=)
c.1764G>A (p.Thr588=)
c.1671G>A (p.Thr557=)
c.1176G>A (p.Thr392=)
n.2143G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74802003G>ACA5084704TRPM6c.1904C>T (p.Thr635Met)
c.1889C>T (p.Thr630Met)
c.1811C>T (p.Thr604Met)
c.1763C>T (p.Thr588Met)
c.1670C>T (p.Thr557Met)
c.1175C>T (p.Thr392Met)
n.2142C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74802003G>CCA373688289TRPM6c.1904C>G (p.Thr635Arg)
c.1889C>G (p.Thr630Arg)
c.1811C>G (p.Thr604Arg)
c.1763C>G (p.Thr588Arg)
c.1670C>G (p.Thr557Arg)
c.1175C>G (p.Thr392Arg)
n.2142C>G
9g.74802003G=CA1856045888TRPM6c.1904C= (p.Thr635=)
c.1889C= (p.Thr630=)
c.1811C= (p.Thr604=)
c.1763C= (p.Thr588=)
c.1670C= (p.Thr557=)
c.1175C= (p.Thr392=)
n.2142C=
9g.74802003G>TCA373688291TRPM6c.1904C>A (p.Thr635Lys)
c.1889C>A (p.Thr630Lys)
c.1811C>A (p.Thr604Lys)
c.1763C>A (p.Thr588Lys)
c.1670C>A (p.Thr557Lys)
c.1175C>A (p.Thr392Lys)
n.2142C>A
9g.74802004T>ACA373688295TRPM6c.1903A>T (p.Thr635Ser)
c.1888A>T (p.Thr630Ser)
c.1810A>T (p.Thr604Ser)
c.1762A>T (p.Thr588Ser)
c.1669A>T (p.Thr557Ser)
c.1174A>T (p.Thr392Ser)
n.2141A>T
9g.74802004T>CCA373688296TRPM6c.1903A>G (p.Thr635Ala)
c.1888A>G (p.Thr630Ala)
c.1810A>G (p.Thr604Ala)
c.1762A>G (p.Thr588Ala)
c.1669A>G (p.Thr557Ala)
c.1174A>G (p.Thr392Ala)
n.2141A>G
9g.74802004T>GCA373688298TRPM6c.1903A>C (p.Thr635Pro)
c.1888A>C (p.Thr630Pro)
c.1810A>C (p.Thr604Pro)
c.1762A>C (p.Thr588Pro)
c.1669A>C (p.Thr557Pro)
c.1174A>C (p.Thr392Pro)
n.2141A>C
9g.74802005G>ACA194305824TRPM6c.1902C>T (p.Ala634=)
c.1887C>T (p.Ala629=)
c.1809C>T (p.Ala603=)
c.1761C>T (p.Ala587=)
c.1668C>T (p.Ala556=)
c.1173C>T (p.Ala391=)
n.2140C>T
dbSNP gnomAD v3 gnomAD v4
9g.74802005G>CCA465615424TRPM6c.1902C>G (p.Ala634=)
c.1887C>G (p.Ala629=)
c.1809C>G (p.Ala603=)
c.1761C>G (p.Ala587=)
c.1668C>G (p.Ala556=)
c.1173C>G (p.Ala391=)
n.2140C>G
9g.74802005G=CA1856045889TRPM6c.1902C= (p.Ala634=)
c.1887C= (p.Ala629=)
c.1809C= (p.Ala603=)
c.1761C= (p.Ala587=)
c.1668C= (p.Ala556=)
c.1173C= (p.Ala391=)
n.2140C=
9g.74802005G>TCA465615425TRPM6c.1902C>A (p.Ala634=)
c.1887C>A (p.Ala629=)
c.1809C>A (p.Ala603=)
c.1761C>A (p.Ala587=)
c.1668C>A (p.Ala556=)
c.1173C>A (p.Ala391=)
n.2140C>A
9g.74802006G>ACA373688301TRPM6c.1901C>T (p.Ala634Val)
c.1886C>T (p.Ala629Val)
c.1808C>T (p.Ala603Val)
c.1760C>T (p.Ala587Val)
c.1667C>T (p.Ala556Val)
c.1172C>T (p.Ala391Val)
n.2139C>T
9g.74802006G>CCA373688304TRPM6c.1901C>G (p.Ala634Gly)
c.1886C>G (p.Ala629Gly)
c.1808C>G (p.Ala603Gly)
c.1760C>G (p.Ala587Gly)
c.1667C>G (p.Ala556Gly)
c.1172C>G (p.Ala391Gly)
n.2139C>G
9g.74802006G>TCA373688306TRPM6c.1901C>A (p.Ala634Asp)
c.1886C>A (p.Ala629Asp)
c.1808C>A (p.Ala603Asp)
c.1760C>A (p.Ala587Asp)
c.1667C>A (p.Ala556Asp)
c.1172C>A (p.Ala391Asp)
n.2139C>A
9g.74802007C>ACA373688309TRPM6c.1900G>T (p.Ala634Ser)
c.1885G>T (p.Ala629Ser)
c.1807G>T (p.Ala603Ser)
c.1759G>T (p.Ala587Ser)
c.1666G>T (p.Ala556Ser)
c.1171G>T (p.Ala391Ser)
n.2138G>T
9g.74802007C=CA1856045890TRPM6c.1900G= (p.Ala634=)
c.1885G= (p.Ala629=)
c.1807G= (p.Ala603=)
c.1759G= (p.Ala587=)
c.1666G= (p.Ala556=)
c.1171G= (p.Ala391=)
n.2138G=
9g.74802007C>GCA373688311TRPM6c.1900G>C (p.Ala634Pro)
c.1885G>C (p.Ala629Pro)
c.1807G>C (p.Ala603Pro)
c.1759G>C (p.Ala587Pro)
c.1666G>C (p.Ala556Pro)
c.1171G>C (p.Ala391Pro)
n.2138G>C
dbSNP gnomAD v2 gnomAD v4
9g.74802007C>TCA373688312TRPM6c.1900G>A (p.Ala634Thr)
c.1885G>A (p.Ala629Thr)
c.1807G>A (p.Ala603Thr)
c.1759G>A (p.Ala587Thr)
c.1666G>A (p.Ala556Thr)
c.1171G>A (p.Ala391Thr)
n.2138G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.74802008C>ACA373688316TRPM6c.1899G>T (p.Glu633Asp)
c.1884G>T (p.Glu628Asp)
c.1806G>T (p.Glu602Asp)
c.1758G>T (p.Glu586Asp)
c.1665G>T (p.Glu555Asp)
c.1170G>T (p.Glu390Asp)
n.2137G>T
9g.74802008C>GCA373688319TRPM6c.1899G>C (p.Glu633Asp)
c.1884G>C (p.Glu628Asp)
c.1806G>C (p.Glu602Asp)
c.1758G>C (p.Glu586Asp)
c.1665G>C (p.Glu555Asp)
c.1170G>C (p.Glu390Asp)
n.2137G>C
9g.74802008C>TCA465615426TRPM6c.1899G>A (p.Glu633=)
c.1884G>A (p.Glu628=)
c.1806G>A (p.Glu602=)
c.1758G>A (p.Glu586=)
c.1665G>A (p.Glu555=)
c.1170G>A (p.Glu390=)
n.2137G>A
9g.74802009T>ACA373688326TRPM6c.1898A>T (p.Glu633Val)
c.1883A>T (p.Glu628Val)
c.1805A>T (p.Glu602Val)
c.1757A>T (p.Glu586Val)
c.1664A>T (p.Glu555Val)
c.1169A>T (p.Glu390Val)
n.2136A>T
9g.74802009T>CCA373688322TRPM6c.1898A>G (p.Glu633Gly)
c.1883A>G (p.Glu628Gly)
c.1805A>G (p.Glu602Gly)
c.1757A>G (p.Glu586Gly)
c.1664A>G (p.Glu555Gly)
c.1169A>G (p.Glu390Gly)
n.2136A>G
9g.74802009T>GCA373688324TRPM6c.1898A>C (p.Glu633Ala)
c.1883A>C (p.Glu628Ala)
c.1805A>C (p.Glu602Ala)
c.1757A>C (p.Glu586Ala)
c.1664A>C (p.Glu555Ala)
c.1169A>C (p.Glu390Ala)
n.2136A>C
9g.74802010C>ACA373688328TRPM6c.1897G>T (p.Glu633Ter)
c.1882G>T (p.Glu628Ter)
c.1804G>T (p.Glu602Ter)
c.1756G>T (p.Glu586Ter)
c.1663G>T (p.Glu555Ter)
c.1168G>T (p.Glu390Ter)
n.2135G>T
9g.74802010C>GCA373688330TRPM6c.1897G>C (p.Glu633Gln)
c.1882G>C (p.Glu628Gln)
c.1804G>C (p.Glu602Gln)
c.1756G>C (p.Glu586Gln)
c.1663G>C (p.Glu555Gln)
c.1168G>C (p.Glu390Gln)
n.2135G>C
9g.74802010C>TCA373688332TRPM6c.1897G>A (p.Glu633Lys)
c.1882G>A (p.Glu628Lys)
c.1804G>A (p.Glu602Lys)
c.1756G>A (p.Glu586Lys)
c.1663G>A (p.Glu555Lys)
c.1168G>A (p.Glu390Lys)
n.2135G>A
9g.74802011C>ACA373688335TRPM6c.1896G>T (p.Glu632Asp)
c.1881G>T (p.Glu627Asp)
c.1803G>T (p.Glu601Asp)
c.1755G>T (p.Glu585Asp)
c.1662G>T (p.Glu554Asp)
c.1167G>T (p.Glu389Asp)
n.2134G>T
gnomAD v4
9g.74802011C=CA1856045891TRPM6c.1896G= (p.Glu632=)
c.1881G= (p.Glu627=)
c.1803G= (p.Glu601=)
c.1755G= (p.Glu585=)
c.1662G= (p.Glu554=)
c.1167G= (p.Glu389=)
n.2134G=
9g.74802011C>GCA373688336TRPM6c.1896G>C (p.Glu632Asp)
c.1881G>C (p.Glu627Asp)
c.1803G>C (p.Glu601Asp)
c.1755G>C (p.Glu585Asp)
c.1662G>C (p.Glu554Asp)
c.1167G>C (p.Glu389Asp)
n.2134G>C
gnomAD v4
9g.74802011C>TCA465615427TRPM6c.1896G>A (p.Glu632=)
c.1881G>A (p.Glu627=)
c.1803G>A (p.Glu601=)
c.1755G>A (p.Glu585=)
c.1662G>A (p.Glu554=)
c.1167G>A (p.Glu389=)
n.2134G>A
dbSNP gnomAD v4
9g.74802012T>ACA373688345TRPM6c.1895A>T (p.Glu632Val)
c.1880A>T (p.Glu627Val)
c.1802A>T (p.Glu601Val)
c.1754A>T (p.Glu585Val)
c.1661A>T (p.Glu554Val)
c.1166A>T (p.Glu389Val)
n.2133A>T
9g.74802012T>CCA373688348TRPM6c.1895A>G (p.Glu632Gly)
c.1880A>G (p.Glu627Gly)
c.1802A>G (p.Glu601Gly)
c.1754A>G (p.Glu585Gly)
c.1661A>G (p.Glu554Gly)
c.1166A>G (p.Glu389Gly)
n.2133A>G
9g.74802012T>GCA373688349TRPM6c.1895A>C (p.Glu632Ala)
c.1880A>C (p.Glu627Ala)
c.1802A>C (p.Glu601Ala)
c.1754A>C (p.Glu585Ala)
c.1661A>C (p.Glu554Ala)
c.1166A>C (p.Glu389Ala)
n.2133A>C
9g.74802013C>ACA373688353TRPM6c.1894G>T (p.Glu632Ter)
c.1879G>T (p.Glu627Ter)
c.1801G>T (p.Glu601Ter)
c.1753G>T (p.Glu585Ter)
c.1660G>T (p.Glu554Ter)
c.1165G>T (p.Glu389Ter)
n.2132G>T
9g.74802013C=CA1856045892TRPM6c.1894G= (p.Glu632=)
c.1879G= (p.Glu627=)
c.1801G= (p.Glu601=)
c.1753G= (p.Glu585=)
c.1660G= (p.Glu554=)
c.1165G= (p.Glu389=)
n.2132G=
9g.74802013C>GCA373688355TRPM6c.1894G>C (p.Glu632Gln)
c.1879G>C (p.Glu627Gln)
c.1801G>C (p.Glu601Gln)
c.1753G>C (p.Glu585Gln)
c.1660G>C (p.Glu554Gln)
c.1165G>C (p.Glu389Gln)
n.2132G>C
dbSNP gnomAD v3 gnomAD v4
9g.74802013C>TCA373688358TRPM6c.1894G>A (p.Glu632Lys)
c.1879G>A (p.Glu627Lys)
c.1801G>A (p.Glu601Lys)
c.1753G>A (p.Glu585Lys)
c.1660G>A (p.Glu554Lys)
c.1165G>A (p.Glu389Lys)
n.2132G>A
gnomAD v4
9g.74802014T>ACA465615428TRPM6c.1893A>T (p.Gly631=)
c.1878A>T (p.Gly626=)
c.1800A>T (p.Gly600=)
c.1752A>T (p.Gly584=)
c.1659A>T (p.Gly553=)
c.1164A>T (p.Gly388=)
n.2131A>T
9g.74802014T>CCA465615429TRPM6c.1893A>G (p.Gly631=)
c.1878A>G (p.Gly626=)
c.1800A>G (p.Gly600=)
c.1752A>G (p.Gly584=)
c.1659A>G (p.Gly553=)
c.1164A>G (p.Gly388=)
n.2131A>G
9g.74802014T>GCA465615430TRPM6c.1893A>C (p.Gly631=)
c.1878A>C (p.Gly626=)
c.1800A>C (p.Gly600=)
c.1752A>C (p.Gly584=)
c.1659A>C (p.Gly553=)
c.1164A>C (p.Gly388=)
n.2131A>C
9g.74802015C>ACA373688365TRPM6c.1892G>T (p.Gly631Val)
c.1877G>T (p.Gly626Val)
c.1799G>T (p.Gly600Val)
c.1751G>T (p.Gly584Val)
c.1658G>T (p.Gly553Val)
c.1163G>T (p.Gly388Val)
n.2130G>T
9g.74802015C>GCA373688363TRPM6c.1892G>C (p.Gly631Ala)
c.1877G>C (p.Gly626Ala)
c.1799G>C (p.Gly600Ala)
c.1751G>C (p.Gly584Ala)
c.1658G>C (p.Gly553Ala)
c.1163G>C (p.Gly388Ala)
n.2130G>C
9g.74802015C>TCA373688361TRPM6c.1892G>A (p.Gly631Glu)
c.1877G>A (p.Gly626Glu)
c.1799G>A (p.Gly600Glu)
c.1751G>A (p.Gly584Glu)
c.1658G>A (p.Gly553Glu)
c.1163G>A (p.Gly388Glu)
n.2130G>A
9g.74802016C>ACA373688371TRPM6c.1891G>T (p.Gly631Ter)
c.1876G>T (p.Gly626Ter)
c.1798G>T (p.Gly600Ter)
c.1750G>T (p.Gly584Ter)
c.1657G>T (p.Gly553Ter)
c.1162G>T (p.Gly388Ter)
n.2129G>T
9g.74802016C=CA1856045893TRPM6c.1891G= (p.Gly631=)
c.1876G= (p.Gly626=)
c.1798G= (p.Gly600=)
c.1750G= (p.Gly584=)
c.1657G= (p.Gly553=)
c.1162G= (p.Gly388=)
n.2129G=
9g.74802016C>GCA373688373TRPM6c.1891G>C (p.Gly631Arg)
c.1876G>C (p.Gly626Arg)
c.1798G>C (p.Gly600Arg)
c.1750G>C (p.Gly584Arg)
c.1657G>C (p.Gly553Arg)
c.1162G>C (p.Gly388Arg)
n.2129G>C
9g.74802016C>TCA373688375TRPM6c.1891G>A (p.Gly631Arg)
c.1876G>A (p.Gly626Arg)
c.1798G>A (p.Gly600Arg)
c.1750G>A (p.Gly584Arg)
c.1657G>A (p.Gly553Arg)
c.1162G>A (p.Gly388Arg)
n.2129G>A
dbSNP
9g.74802017A>CCA373688378TRPM6c.1890T>G (p.His630Gln)
c.1875T>G (p.His625Gln)
c.1797T>G (p.His599Gln)
c.1749T>G (p.His583Gln)
c.1656T>G (p.His552Gln)
c.1161T>G (p.His387Gln)
n.2128T>G
9g.74802017A>GCA465615431TRPM6c.1890T>C (p.His630=)
c.1875T>C (p.His625=)
c.1797T>C (p.His599=)
c.1749T>C (p.His583=)
c.1656T>C (p.His552=)
c.1161T>C (p.His387=)
n.2128T>C
gnomAD v4
9g.74802017A>TCA373688380TRPM6c.1890T>A (p.His630Gln)
c.1875T>A (p.His625Gln)
c.1797T>A (p.His599Gln)
c.1749T>A (p.His583Gln)
c.1656T>A (p.His552Gln)
c.1161T>A (p.His387Gln)
n.2128T>A
9g.74802018T>ACA373688385TRPM6c.1889A>T (p.His630Leu)
c.1874A>T (p.His625Leu)
c.1796A>T (p.His599Leu)
c.1748A>T (p.His583Leu)
c.1655A>T (p.His552Leu)
c.1160A>T (p.His387Leu)
n.2127A>T
9g.74802018T>CCA373688388TRPM6c.1889A>G (p.His630Arg)
c.1874A>G (p.His625Arg)
c.1796A>G (p.His599Arg)
c.1748A>G (p.His583Arg)
c.1655A>G (p.His552Arg)
c.1160A>G (p.His387Arg)
n.2127A>G
dbSNP gnomAD v4
9g.74802018T>GCA373688390TRPM6c.1889A>C (p.His630Pro)
c.1874A>C (p.His625Pro)
c.1796A>C (p.His599Pro)
c.1748A>C (p.His583Pro)
c.1655A>C (p.His552Pro)
c.1160A>C (p.His387Pro)
n.2127A>C
9g.74802018T=CA1856045894TRPM6c.1889A= (p.His630=)
c.1874A= (p.His625=)
c.1796A= (p.His599=)
c.1748A= (p.His583=)
c.1655A= (p.His552=)
c.1160A= (p.His387=)
n.2127A=
9g.74802019G>ACA373688392TRPM6c.1888C>T (p.His630Tyr)
c.1873C>T (p.His625Tyr)
c.1795C>T (p.His599Tyr)
c.1747C>T (p.His583Tyr)
c.1654C>T (p.His552Tyr)
c.1159C>T (p.His387Tyr)
n.2126C>T
gnomAD v4
9g.74802019G>CCA373688393TRPM6c.1888C>G (p.His630Asp)
c.1873C>G (p.His625Asp)
c.1795C>G (p.His599Asp)
c.1747C>G (p.His583Asp)
c.1654C>G (p.His552Asp)
c.1159C>G (p.His387Asp)
n.2126C>G
gnomAD v4
9g.74802019G>TCA373688395TRPM6c.1888C>A (p.His630Asn)
c.1873C>A (p.His625Asn)
c.1795C>A (p.His599Asn)
c.1747C>A (p.His583Asn)
c.1654C>A (p.His552Asn)
c.1159C>A (p.His387Asn)
n.2126C>A
9g.74802020C>ACA373688398TRPM6c.1887G>T (p.Gln629His)
c.1872G>T (p.Gln624His)
c.1794G>T (p.Gln598His)
c.1746G>T (p.Gln582His)
c.1653G>T (p.Gln551His)
c.1158G>T (p.Gln386His)
n.2125G>T
gnomAD v4
9g.74802020C>GCA373688399TRPM6c.1887G>C (p.Gln629His)
c.1872G>C (p.Gln624His)
c.1794G>C (p.Gln598His)
c.1746G>C (p.Gln582His)
c.1653G>C (p.Gln551His)
c.1158G>C (p.Gln386His)
n.2125G>C
9g.74802020C>TCA465615432TRPM6c.1887G>A (p.Gln629=)
c.1872G>A (p.Gln624=)
c.1794G>A (p.Gln598=)
c.1746G>A (p.Gln582=)
c.1653G>A (p.Gln551=)
c.1158G>A (p.Gln386=)
n.2125G>A
9g.74802021T>ACA373688405TRPM6c.1886A>T (p.Gln629Leu)
c.1871A>T (p.Gln624Leu)
c.1793A>T (p.Gln598Leu)
c.1745A>T (p.Gln582Leu)
c.1652A>T (p.Gln551Leu)
c.1157A>T (p.Gln386Leu)
n.2124A>T
9g.74802021T>CCA373688401TRPM6c.1886A>G (p.Gln629Arg)
c.1871A>G (p.Gln624Arg)
c.1793A>G (p.Gln598Arg)
c.1745A>G (p.Gln582Arg)
c.1652A>G (p.Gln551Arg)
c.1157A>G (p.Gln386Arg)
n.2124A>G
9g.74802021T>GCA373688403TRPM6c.1886A>C (p.Gln629Pro)
c.1871A>C (p.Gln624Pro)
c.1793A>C (p.Gln598Pro)
c.1745A>C (p.Gln582Pro)
c.1652A>C (p.Gln551Pro)
c.1157A>C (p.Gln386Pro)
n.2124A>C
9g.74802022G>ACA373688407TRPM6c.1885C>T (p.Gln629Ter)
c.1870C>T (p.Gln624Ter)
c.1792C>T (p.Gln598Ter)
c.1744C>T (p.Gln582Ter)
c.1651C>T (p.Gln551Ter)
c.1156C>T (p.Gln386Ter)
n.2123C>T
9g.74802022G>CCA373688409TRPM6c.1885C>G (p.Gln629Glu)
c.1870C>G (p.Gln624Glu)
c.1792C>G (p.Gln598Glu)
c.1744C>G (p.Gln582Glu)
c.1651C>G (p.Gln551Glu)
c.1156C>G (p.Gln386Glu)
n.2123C>G
9g.74802022G>TCA373688411TRPM6c.1885C>A (p.Gln629Lys)
c.1870C>A (p.Gln624Lys)
c.1792C>A (p.Gln598Lys)
c.1744C>A (p.Gln582Lys)
c.1651C>A (p.Gln551Lys)
c.1156C>A (p.Gln386Lys)
n.2123C>A
gnomAD v4
9g.74802023C>ACA373688414TRPM6c.1884G>T (p.Trp628Cys)
c.1869G>T (p.Trp623Cys)
c.1791G>T (p.Trp597Cys)
c.1743G>T (p.Trp581Cys)
c.1650G>T (p.Trp550Cys)
c.1155G>T (p.Trp385Cys)
n.2122G>T
9g.74802023C>GCA373688416TRPM6c.1884G>C (p.Trp628Cys)
c.1869G>C (p.Trp623Cys)
c.1791G>C (p.Trp597Cys)
c.1743G>C (p.Trp581Cys)
c.1650G>C (p.Trp550Cys)
c.1155G>C (p.Trp385Cys)
n.2122G>C
9g.74802023C>TCA373688418TRPM6c.1884G>A (p.Trp628Ter)
c.1869G>A (p.Trp623Ter)
c.1791G>A (p.Trp597Ter)
c.1743G>A (p.Trp581Ter)
c.1650G>A (p.Trp550Ter)
c.1155G>A (p.Trp385Ter)
n.2122G>A
9g.74802024C>ACA373688421TRPM6c.1883G>T (p.Trp628Leu)
c.1868G>T (p.Trp623Leu)
c.1790G>T (p.Trp597Leu)
c.1742G>T (p.Trp581Leu)
c.1649G>T (p.Trp550Leu)
c.1154G>T (p.Trp385Leu)
n.2121G>T
9g.74802024C>GCA373688423TRPM6c.1883G>C (p.Trp628Ser)
c.1868G>C (p.Trp623Ser)
c.1790G>C (p.Trp597Ser)
c.1742G>C (p.Trp581Ser)
c.1649G>C (p.Trp550Ser)
c.1154G>C (p.Trp385Ser)
n.2121G>C
9g.74802024C>TCA373688425TRPM6c.1883G>A (p.Trp628Ter)
c.1868G>A (p.Trp623Ter)
c.1790G>A (p.Trp597Ter)
c.1742G>A (p.Trp581Ter)
c.1649G>A (p.Trp550Ter)
c.1154G>A (p.Trp385Ter)
n.2121G>A
9g.74802025A>CCA373688427TRPM6c.1882T>G (p.Trp628Gly)
c.1867T>G (p.Trp623Gly)
c.1789T>G (p.Trp597Gly)
c.1741T>G (p.Trp581Gly)
c.1648T>G (p.Trp550Gly)
c.1153T>G (p.Trp385Gly)
n.2120T>G
9g.74802025A>GCA373688429TRPM6c.1882T>C (p.Trp628Arg)
c.1867T>C (p.Trp623Arg)
c.1789T>C (p.Trp597Arg)
c.1741T>C (p.Trp581Arg)
c.1648T>C (p.Trp550Arg)
c.1153T>C (p.Trp385Arg)
n.2120T>C
gnomAD v4
9g.74802025A>TCA373688431TRPM6c.1882T>A (p.Trp628Arg)
c.1867T>A (p.Trp623Arg)
c.1789T>A (p.Trp597Arg)
c.1741T>A (p.Trp581Arg)
c.1648T>A (p.Trp550Arg)
c.1153T>A (p.Trp385Arg)
n.2120T>A
9g.74802026G>ACA465615433TRPM6c.1881C>T (p.Phe627=)
c.1866C>T (p.Phe622=)
c.1788C>T (p.Phe596=)
c.1740C>T (p.Phe580=)
c.1647C>T (p.Phe549=)
c.1152C>T (p.Phe384=)
n.2119C>T
9g.74802026G>CCA373688434TRPM6c.1881C>G (p.Phe627Leu)
c.1866C>G (p.Phe622Leu)
c.1788C>G (p.Phe596Leu)
c.1740C>G (p.Phe580Leu)
c.1647C>G (p.Phe549Leu)
c.1152C>G (p.Phe384Leu)
n.2119C>G
9g.74802026G>TCA373688437TRPM6c.1881C>A (p.Phe627Leu)
c.1866C>A (p.Phe622Leu)
c.1788C>A (p.Phe596Leu)
c.1740C>A (p.Phe580Leu)
c.1647C>A (p.Phe549Leu)
c.1152C>A (p.Phe384Leu)
n.2119C>A
9g.74802027A>CCA373688440TRPM6c.1880T>G (p.Phe627Cys)
c.1865T>G (p.Phe622Cys)
c.1787T>G (p.Phe596Cys)
c.1739T>G (p.Phe580Cys)
c.1646T>G (p.Phe549Cys)
c.1151T>G (p.Phe384Cys)
n.2118T>G
9g.74802027A>GCA373688443TRPM6c.1880T>C (p.Phe627Ser)
c.1865T>C (p.Phe622Ser)
c.1787T>C (p.Phe596Ser)
c.1739T>C (p.Phe580Ser)
c.1646T>C (p.Phe549Ser)
c.1151T>C (p.Phe384Ser)
n.2118T>C
gnomAD v4
9g.74802027A>TCA373688442TRPM6c.1880T>A (p.Phe627Tyr)
c.1865T>A (p.Phe622Tyr)
c.1787T>A (p.Phe596Tyr)
c.1739T>A (p.Phe580Tyr)
c.1646T>A (p.Phe549Tyr)
c.1151T>A (p.Phe384Tyr)
n.2118T>A
9g.74802028A>CCA373688445TRPM6c.1879T>G (p.Phe627Val)
c.1864T>G (p.Phe622Val)
c.1786T>G (p.Phe596Val)
c.1738T>G (p.Phe580Val)
c.1645T>G (p.Phe549Val)
c.1150T>G (p.Phe384Val)
n.2117T>G
9g.74802028A>GCA373688449TRPM6c.1879T>C (p.Phe627Leu)
c.1864T>C (p.Phe622Leu)
c.1786T>C (p.Phe596Leu)
c.1738T>C (p.Phe580Leu)
c.1645T>C (p.Phe549Leu)
c.1150T>C (p.Phe384Leu)
n.2117T>C
9g.74802028A>TCA373688447TRPM6c.1879T>A (p.Phe627Ile)
c.1864T>A (p.Phe622Ile)
c.1786T>A (p.Phe596Ile)
c.1738T>A (p.Phe580Ile)
c.1645T>A (p.Phe549Ile)
c.1150T>A (p.Phe384Ile)
n.2117T>A
9g.74802029G>ACA465615434TRPM6c.1878C>T (p.Phe626=)
c.1863C>T (p.Phe621=)
c.1785C>T (p.Phe595=)
c.1737C>T (p.Phe579=)
c.1644C>T (p.Phe548=)
c.1149C>T (p.Phe383=)
n.2116C>T
9g.74802029G>CCA373688452TRPM6c.1878C>G (p.Phe626Leu)
c.1863C>G (p.Phe621Leu)
c.1785C>G (p.Phe595Leu)
c.1737C>G (p.Phe579Leu)
c.1644C>G (p.Phe548Leu)
c.1149C>G (p.Phe383Leu)
n.2116C>G
9g.74802029G>TCA373688454TRPM6c.1878C>A (p.Phe626Leu)
c.1863C>A (p.Phe621Leu)
c.1785C>A (p.Phe595Leu)
c.1737C>A (p.Phe579Leu)
c.1644C>A (p.Phe548Leu)
c.1149C>A (p.Phe383Leu)
n.2116C>A
9g.74802030A>CCA373688457TRPM6c.1877T>G (p.Phe626Cys)
c.1862T>G (p.Phe621Cys)
c.1784T>G (p.Phe595Cys)
c.1736T>G (p.Phe579Cys)
c.1643T>G (p.Phe548Cys)
c.1148T>G (p.Phe383Cys)
n.2115T>G
9g.74802030A>GCA373688459TRPM6c.1877T>C (p.Phe626Ser)
c.1862T>C (p.Phe621Ser)
c.1784T>C (p.Phe595Ser)
c.1736T>C (p.Phe579Ser)
c.1643T>C (p.Phe548Ser)
c.1148T>C (p.Phe383Ser)
n.2115T>C
9g.74802030A>TCA373688461TRPM6c.1877T>A (p.Phe626Tyr)
c.1862T>A (p.Phe621Tyr)
c.1784T>A (p.Phe595Tyr)
c.1736T>A (p.Phe579Tyr)
c.1643T>A (p.Phe548Tyr)
c.1148T>A (p.Phe383Tyr)
n.2115T>A
9g.74802031A>CCA373688463TRPM6c.1876T>G (p.Phe626Val)
c.1861T>G (p.Phe621Val)
c.1783T>G (p.Phe595Val)
c.1735T>G (p.Phe579Val)
c.1642T>G (p.Phe548Val)
c.1147T>G (p.Phe383Val)
n.2114T>G
9g.74802031A>GCA373688466TRPM6c.1876T>C (p.Phe626Leu)
c.1861T>C (p.Phe621Leu)
c.1783T>C (p.Phe595Leu)
c.1735T>C (p.Phe579Leu)
c.1642T>C (p.Phe548Leu)
c.1147T>C (p.Phe383Leu)
n.2114T>C
gnomAD v4
9g.74802031A>TCA373688468TRPM6c.1876T>A (p.Phe626Ile)
c.1861T>A (p.Phe621Ile)
c.1783T>A (p.Phe595Ile)
c.1735T>A (p.Phe579Ile)
c.1642T>A (p.Phe548Ile)
c.1147T>A (p.Phe383Ile)
n.2114T>A
9g.74802032C>ACA373688470TRPM6c.1875G>T (p.Met625Ile)
c.1860G>T (p.Met620Ile)
c.1782G>T (p.Met594Ile)
c.1734G>T (p.Met578Ile)
c.1641G>T (p.Met547Ile)
c.1146G>T (p.Met382Ile)
n.2113G>T
9g.74802032C>GCA373688472TRPM6c.1875G>C (p.Met625Ile)
c.1860G>C (p.Met620Ile)
c.1782G>C (p.Met594Ile)
c.1734G>C (p.Met578Ile)
c.1641G>C (p.Met547Ile)
c.1146G>C (p.Met382Ile)
n.2113G>C
9g.74802032C>TCA373688473TRPM6c.1875G>A (p.Met625Ile)
c.1860G>A (p.Met620Ile)
c.1782G>A (p.Met594Ile)
c.1734G>A (p.Met578Ile)
c.1641G>A (p.Met547Ile)
c.1146G>A (p.Met382Ile)
n.2113G>A
9g.74802033A>CCA373688480TRPM6c.1874T>G (p.Met625Arg)
c.1859T>G (p.Met620Arg)
c.1781T>G (p.Met594Arg)
c.1733T>G (p.Met578Arg)
c.1640T>G (p.Met547Arg)
c.1145T>G (p.Met382Arg)
n.2112T>G
9g.74802033A>GCA373688482TRPM6c.1874T>C (p.Met625Thr)
c.1859T>C (p.Met620Thr)
c.1781T>C (p.Met594Thr)
c.1733T>C (p.Met578Thr)
c.1640T>C (p.Met547Thr)
c.1145T>C (p.Met382Thr)
n.2112T>C
gnomAD v4
9g.74802033A>TCA373688484TRPM6c.1874T>A (p.Met625Lys)
c.1859T>A (p.Met620Lys)
c.1781T>A (p.Met594Lys)
c.1733T>A (p.Met578Lys)
c.1640T>A (p.Met547Lys)
c.1145T>A (p.Met382Lys)
n.2112T>A
9g.74802034T>ACA373688488TRPM6c.1873A>T (p.Met625Leu)
c.1858A>T (p.Met620Leu)
c.1780A>T (p.Met594Leu)
c.1732A>T (p.Met578Leu)
c.1639A>T (p.Met547Leu)
c.1144A>T (p.Met382Leu)
n.2111A>T
9g.74802034T>CCA373688491TRPM6c.1873A>G (p.Met625Val)
c.1858A>G (p.Met620Val)
c.1780A>G (p.Met594Val)
c.1732A>G (p.Met578Val)
c.1639A>G (p.Met547Val)
c.1144A>G (p.Met382Val)
n.2111A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
9g.74802034T>GCA373688489TRPM6c.1873A>C (p.Met625Leu)
c.1858A>C (p.Met620Leu)
c.1780A>C (p.Met594Leu)
c.1732A>C (p.Met578Leu)
c.1639A>C (p.Met547Leu)
c.1144A>C (p.Met382Leu)
n.2111A>C
9g.74802034T=CA1856045895TRPM6c.1873A= (p.Met625=)
c.1858A= (p.Met620=)
c.1780A= (p.Met594=)
c.1732A= (p.Met578=)
c.1639A= (p.Met547=)
c.1144A= (p.Met382=)
n.2111A=
9g.74802035A=CA1856045896TRPM6c.1872T= (p.Ala624=)
c.1857T= (p.Ala619=)
c.1779T= (p.Ala593=)
c.1731T= (p.Ala577=)
c.1638T= (p.Ala546=)
c.1143T= (p.Ala381=)
n.2110T=
9g.74802035A>CCA465615435TRPM6c.1872T>G (p.Ala624=)
c.1857T>G (p.Ala619=)
c.1779T>G (p.Ala593=)
c.1731T>G (p.Ala577=)
c.1638T>G (p.Ala546=)
c.1143T>G (p.Ala381=)
n.2110T>G
9g.74802035A>GCA5084705TRPM6c.1872T>C (p.Ala624=)
c.1857T>C (p.Ala619=)
c.1779T>C (p.Ala593=)
c.1731T>C (p.Ala577=)
c.1638T>C (p.Ala546=)
c.1143T>C (p.Ala381=)
n.2110T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74802035A>TCA465615436TRPM6c.1872T>A (p.Ala624=)
c.1857T>A (p.Ala619=)
c.1779T>A (p.Ala593=)
c.1731T>A (p.Ala577=)
c.1638T>A (p.Ala546=)
c.1143T>A (p.Ala381=)
n.2110T>A
9g.74802036G>ACA373688497TRPM6c.1871C>T (p.Ala624Val)
c.1856C>T (p.Ala619Val)
c.1778C>T (p.Ala593Val)
c.1730C>T (p.Ala577Val)
c.1637C>T (p.Ala546Val)
c.1142C>T (p.Ala381Val)
n.2109C>T
9g.74802036G>CCA373688499TRPM6c.1871C>G (p.Ala624Gly)
c.1856C>G (p.Ala619Gly)
c.1778C>G (p.Ala593Gly)
c.1730C>G (p.Ala577Gly)
c.1637C>G (p.Ala546Gly)
c.1142C>G (p.Ala381Gly)
n.2109C>G
9g.74802036G>TCA373688502TRPM6c.1871C>A (p.Ala624Asp)
c.1856C>A (p.Ala619Asp)
c.1778C>A (p.Ala593Asp)
c.1730C>A (p.Ala577Asp)
c.1637C>A (p.Ala546Asp)
c.1142C>A (p.Ala381Asp)
n.2109C>A
9g.74802037C>ACA373688505TRPM6c.1870G>T (p.Ala624Ser)
c.1855G>T (p.Ala619Ser)
c.1777G>T (p.Ala593Ser)
c.1729G>T (p.Ala577Ser)
c.1636G>T (p.Ala546Ser)
c.1141G>T (p.Ala381Ser)
n.2108G>T
9g.74802037C>GCA373688507TRPM6c.1870G>C (p.Ala624Pro)
c.1855G>C (p.Ala619Pro)
c.1777G>C (p.Ala593Pro)
c.1729G>C (p.Ala577Pro)
c.1636G>C (p.Ala546Pro)
c.1141G>C (p.Ala381Pro)
n.2108G>C
9g.74802037C>TCA373688511TRPM6c.1870G>A (p.Ala624Thr)
c.1855G>A (p.Ala619Thr)
c.1777G>A (p.Ala593Thr)
c.1729G>A (p.Ala577Thr)
c.1636G>A (p.Ala546Thr)
c.1141G>A (p.Ala381Thr)
n.2108G>A
9g.74802038C>ACA373688515TRPM6c.1869G>T (p.Met623Ile)
c.1854G>T (p.Met618Ile)
c.1776G>T (p.Met592Ile)
c.1728G>T (p.Met576Ile)
c.1635G>T (p.Met545Ile)
c.1140G>T (p.Met380Ile)
n.2107G>T
9g.74802038C>GCA373688517TRPM6c.1869G>C (p.Met623Ile)
c.1854G>C (p.Met618Ile)
c.1776G>C (p.Met592Ile)
c.1728G>C (p.Met576Ile)
c.1635G>C (p.Met545Ile)
c.1140G>C (p.Met380Ile)
n.2107G>C
9g.74802038C>TCA373688519TRPM6c.1869G>A (p.Met623Ile)
c.1854G>A (p.Met618Ile)
c.1776G>A (p.Met592Ile)
c.1728G>A (p.Met576Ile)
c.1635G>A (p.Met545Ile)
c.1140G>A (p.Met380Ile)
n.2107G>A
9g.74802039A>CCA373688523TRPM6c.1868T>G (p.Met623Arg)
c.1853T>G (p.Met618Arg)
c.1775T>G (p.Met592Arg)
c.1727T>G (p.Met576Arg)
c.1634T>G (p.Met545Arg)
c.1139T>G (p.Met380Arg)
n.2106T>G
9g.74802039A>GCA373688525TRPM6c.1868T>C (p.Met623Thr)
c.1853T>C (p.Met618Thr)
c.1775T>C (p.Met592Thr)
c.1727T>C (p.Met576Thr)
c.1634T>C (p.Met545Thr)
c.1139T>C (p.Met380Thr)
n.2106T>C
gnomAD v4
9g.74802039A>TCA373688521TRPM6c.1868T>A (p.Met623Lys)
c.1853T>A (p.Met618Lys)
c.1775T>A (p.Met592Lys)
c.1727T>A (p.Met576Lys)
c.1634T>A (p.Met545Lys)
c.1139T>A (p.Met380Lys)
n.2106T>A
9g.74802040T>ACA373688527TRPM6c.1867A>T (p.Met623Leu)
c.1852A>T (p.Met618Leu)
c.1774A>T (p.Met592Leu)
c.1726A>T (p.Met576Leu)
c.1633A>T (p.Met545Leu)
c.1138A>T (p.Met380Leu)
n.2105A>T
dbSNP gnomAD v2 gnomAD v4
9g.74802040T>CCA373688529TRPM6c.1867A>G (p.Met623Val)
c.1852A>G (p.Met618Val)
c.1774A>G (p.Met592Val)
c.1726A>G (p.Met576Val)
c.1633A>G (p.Met545Val)
c.1138A>G (p.Met380Val)
n.2105A>G
9g.74802040T>GCA373688532TRPM6c.1867A>C (p.Met623Leu)
c.1852A>C (p.Met618Leu)
c.1774A>C (p.Met592Leu)
c.1726A>C (p.Met576Leu)
c.1633A>C (p.Met545Leu)
c.1138A>C (p.Met380Leu)
n.2105A>C
9g.74802040T=CA1856045897TRPM6c.1867A= (p.Met623=)
c.1852A= (p.Met618=)
c.1774A= (p.Met592=)
c.1726A= (p.Met576=)
c.1633A= (p.Met545=)
c.1138A= (p.Met380=)
n.2105A=
9g.74802041C>ACA373688534TRPM6c.1866G>T (p.Lys622Asn)
c.1851G>T (p.Lys617Asn)
c.1773G>T (p.Lys591Asn)
c.1725G>T (p.Lys575Asn)
c.1632G>T (p.Lys544Asn)
c.1137G>T (p.Lys379Asn)
n.2104G>T
9g.74802041C>GCA373688536TRPM6c.1866G>C (p.Lys622Asn)
c.1851G>C (p.Lys617Asn)
c.1773G>C (p.Lys591Asn)
c.1725G>C (p.Lys575Asn)
c.1632G>C (p.Lys544Asn)
c.1137G>C (p.Lys379Asn)
n.2104G>C
9g.74802041C>TCA465615437TRPM6c.1866G>A (p.Lys622=)
c.1851G>A (p.Lys617=)
c.1773G>A (p.Lys591=)
c.1725G>A (p.Lys575=)
c.1632G>A (p.Lys544=)
c.1137G>A (p.Lys379=)
n.2104G>A
9g.74802042T>ACA373688544TRPM6c.1865A>T (p.Lys622Met)
c.1850A>T (p.Lys617Met)
c.1772A>T (p.Lys591Met)
c.1724A>T (p.Lys575Met)
c.1631A>T (p.Lys544Met)
c.1136A>T (p.Lys379Met)
n.2103A>T
9g.74802042T>CCA373688539TRPM6c.1865A>G (p.Lys622Arg)
c.1850A>G (p.Lys617Arg)
c.1772A>G (p.Lys591Arg)
c.1724A>G (p.Lys575Arg)
c.1631A>G (p.Lys544Arg)
c.1136A>G (p.Lys379Arg)
n.2103A>G
9g.74802042T>GCA373688541TRPM6c.1865A>C (p.Lys622Thr)
c.1850A>C (p.Lys617Thr)
c.1772A>C (p.Lys591Thr)
c.1724A>C (p.Lys575Thr)
c.1631A>C (p.Lys544Thr)
c.1136A>C (p.Lys379Thr)
n.2103A>C
ClinVar
9g.74802043T>ACA373688546TRPM6c.1864A>T (p.Lys622Ter)
c.1849A>T (p.Lys617Ter)
c.1771A>T (p.Lys591Ter)
c.1723A>T (p.Lys575Ter)
c.1630A>T (p.Lys544Ter)
c.1135A>T (p.Lys379Ter)
n.2102A>T
9g.74802043T>CCA373688549TRPM6c.1864A>G (p.Lys622Glu)
c.1849A>G (p.Lys617Glu)
c.1771A>G (p.Lys591Glu)
c.1723A>G (p.Lys575Glu)
c.1630A>G (p.Lys544Glu)
c.1135A>G (p.Lys379Glu)
n.2102A>G
9g.74802043T>GCA373688551TRPM6c.1864A>C (p.Lys622Gln)
c.1849A>C (p.Lys617Gln)
c.1771A>C (p.Lys591Gln)
c.1723A>C (p.Lys575Gln)
c.1630A>C (p.Lys544Gln)
c.1135A>C (p.Lys379Gln)
n.2102A>C
9g.74802044C>ACA373688553TRPM6c.1863G>T (p.Gln621His)
c.1848G>T (p.Gln616His)
c.1770G>T (p.Gln590His)
c.1722G>T (p.Gln574His)
c.1629G>T (p.Gln543His)
c.1134G>T (p.Gln378His)
n.2101G>T
COSMIC COSMIC COSMIC
9g.74802044C>GCA373688555TRPM6c.1863G>C (p.Gln621His)
c.1848G>C (p.Gln616His)
c.1770G>C (p.Gln590His)
c.1722G>C (p.Gln574His)
c.1629G>C (p.Gln543His)
c.1134G>C (p.Gln378His)
n.2101G>C
9g.74802044C>TCA465615438TRPM6c.1863G>A (p.Gln621=)
c.1848G>A (p.Gln616=)
c.1770G>A (p.Gln590=)
c.1722G>A (p.Gln574=)
c.1629G>A (p.Gln543=)
c.1134G>A (p.Gln378=)
n.2101G>A
9g.74802045T>ACA373688563TRPM6c.1862A>T (p.Gln621Leu)
c.1847A>T (p.Gln616Leu)
c.1769A>T (p.Gln590Leu)
c.1721A>T (p.Gln574Leu)
c.1628A>T (p.Gln543Leu)
c.1133A>T (p.Gln378Leu)
n.2100A>T
9g.74802045T>CCA373688567TRPM6c.1862A>G (p.Gln621Arg)
c.1847A>G (p.Gln616Arg)
c.1769A>G (p.Gln590Arg)
c.1721A>G (p.Gln574Arg)
c.1628A>G (p.Gln543Arg)
c.1133A>G (p.Gln378Arg)
n.2100A>G
9g.74802045T>GCA373688566TRPM6c.1862A>C (p.Gln621Pro)
c.1847A>C (p.Gln616Pro)
c.1769A>C (p.Gln590Pro)
c.1721A>C (p.Gln574Pro)
c.1628A>C (p.Gln543Pro)
c.1133A>C (p.Gln378Pro)
n.2100A>C
9g.74802046G>ACA373688570TRPM6c.1861C>T (p.Gln621Ter)
c.1846C>T (p.Gln616Ter)
c.1768C>T (p.Gln590Ter)
c.1720C>T (p.Gln574Ter)
c.1627C>T (p.Gln543Ter)
c.1132C>T (p.Gln378Ter)
n.2099C>T
9g.74802046G>CCA373688573TRPM6c.1861C>G (p.Gln621Glu)
c.1846C>G (p.Gln616Glu)
c.1768C>G (p.Gln590Glu)
c.1720C>G (p.Gln574Glu)
c.1627C>G (p.Gln543Glu)
c.1132C>G (p.Gln378Glu)
n.2099C>G
9g.74802046G>TCA373688575TRPM6c.1861C>A (p.Gln621Lys)
c.1846C>A (p.Gln616Lys)
c.1768C>A (p.Gln590Lys)
c.1720C>A (p.Gln574Lys)
c.1627C>A (p.Gln543Lys)
c.1132C>A (p.Gln378Lys)
n.2099C>A
9g.74802047C>ACA373688577TRPM6c.1860G>T (p.Arg620Ser)
c.1845G>T (p.Arg615Ser)
c.1767G>T (p.Arg589Ser)
c.1719G>T (p.Arg573Ser)
c.1626G>T (p.Arg542Ser)
c.1131G>T (p.Arg377Ser)
n.2098G>T
9g.74802047C=CA1856045898TRPM6c.1860G= (p.Arg620=)
c.1845G= (p.Arg615=)
c.1767G= (p.Arg589=)
c.1719G= (p.Arg573=)
c.1626G= (p.Arg542=)
c.1131G= (p.Arg377=)
n.2098G=
9g.74802047C>GCA373688579TRPM6c.1860G>C (p.Arg620Ser)
c.1845G>C (p.Arg615Ser)
c.1767G>C (p.Arg589Ser)
c.1719G>C (p.Arg573Ser)
c.1626G>C (p.Arg542Ser)
c.1131G>C (p.Arg377Ser)
n.2098G>C
9g.74802047C>TCA5084706TRPM6c.1860G>A (p.Arg620=)
c.1845G>A (p.Arg615=)
c.1767G>A (p.Arg589=)
c.1719G>A (p.Arg573=)
c.1626G>A (p.Arg542=)
c.1131G>A (p.Arg377=)
n.2098G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74802048C>ACA373688580TRPM6c.1859G>T (p.Arg620Met)
c.1844G>T (p.Arg615Met)
c.1766G>T (p.Arg589Met)
c.1718G>T (p.Arg573Met)
c.1625G>T (p.Arg542Met)
c.1130G>T (p.Arg377Met)
n.2097G>T
9g.74802048C=CA1856045899TRPM6c.1859G= (p.Arg620=)
c.1844G= (p.Arg615=)
c.1766G= (p.Arg589=)
c.1718G= (p.Arg573=)
c.1625G= (p.Arg542=)
c.1130G= (p.Arg377=)
n.2097G=
9g.74802048C>GCA373688581TRPM6c.1859G>C (p.Arg620Thr)
c.1844G>C (p.Arg615Thr)
c.1766G>C (p.Arg589Thr)
c.1718G>C (p.Arg573Thr)
c.1625G>C (p.Arg542Thr)
c.1130G>C (p.Arg377Thr)
n.2097G>C
9g.74802048C>TCA194305834TRPM6c.1859G>A (p.Arg620Lys)
c.1844G>A (p.Arg615Lys)
c.1766G>A (p.Arg589Lys)
c.1718G>A (p.Arg573Lys)
c.1625G>A (p.Arg542Lys)
c.1130G>A (p.Arg377Lys)
n.2097G>A
dbSNP gnomAD v4
9g.74802049T>ACA373688582TRPM6c.1858A>T (p.Arg620Trp)
c.1843A>T (p.Arg615Trp)
c.1765A>T (p.Arg589Trp)
c.1717A>T (p.Arg573Trp)
c.1624A>T (p.Arg542Trp)
c.1129A>T (p.Arg377Trp)
n.2096A>T
9g.74802049T>CCA373688583TRPM6c.1858A>G (p.Arg620Gly)
c.1843A>G (p.Arg615Gly)
c.1765A>G (p.Arg589Gly)
c.1717A>G (p.Arg573Gly)
c.1624A>G (p.Arg542Gly)
c.1129A>G (p.Arg377Gly)
n.2096A>G
dbSNP
9g.74802049T>GCA5084707TRPM6c.1858A>C (p.Arg620=)
c.1843A>C (p.Arg615=)
c.1765A>C (p.Arg589=)
c.1717A>C (p.Arg573=)
c.1624A>C (p.Arg542=)
c.1129A>C (p.Arg377=)
n.2096A>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.74802049T=CA1856045900TRPM6c.1858A= (p.Arg620=)
c.1843A= (p.Arg615=)
c.1765A= (p.Arg589=)
c.1717A= (p.Arg573=)
c.1624A= (p.Arg542=)
c.1129A= (p.Arg377=)
n.2096A=
9g.74802050T>ACA373688584TRPM6c.1857A>T (p.Lys619Asn)
c.1842A>T (p.Lys614Asn)
c.1764A>T (p.Lys588Asn)
c.1716A>T (p.Lys572Asn)
c.1623A>T (p.Lys541Asn)
c.1128A>T (p.Lys376Asn)
n.2095A>T
9g.74802050T>CCA465615439TRPM6c.1857A>G (p.Lys619=)
c.1842A>G (p.Lys614=)
c.1764A>G (p.Lys588=)
c.1716A>G (p.Lys572=)
c.1623A>G (p.Lys541=)
c.1128A>G (p.Lys376=)
n.2095A>G
dbSNP gnomAD v3 gnomAD v4
9g.74802050T>GCA373688585TRPM6c.1857A>C (p.Lys619Asn)
c.1842A>C (p.Lys614Asn)
c.1764A>C (p.Lys588Asn)
c.1716A>C (p.Lys572Asn)
c.1623A>C (p.Lys541Asn)
c.1128A>C (p.Lys376Asn)
n.2095A>C
9g.74802050T=CA1856045901TRPM6c.1857A= (p.Lys619=)
c.1842A= (p.Lys614=)
c.1764A= (p.Lys588=)
c.1716A= (p.Lys572=)
c.1623A= (p.Lys541=)
c.1128A= (p.Lys376=)
n.2095A=
9g.74802051T>ACA373688586TRPM6c.1856A>T (p.Lys619Ile)
c.1841A>T (p.Lys614Ile)
c.1763A>T (p.Lys588Ile)
c.1715A>T (p.Lys572Ile)
c.1622A>T (p.Lys541Ile)
c.1127A>T (p.Lys376Ile)
n.2094A>T
9g.74802051T>CCA373688588TRPM6c.1856A>G (p.Lys619Arg)
c.1841A>G (p.Lys614Arg)
c.1763A>G (p.Lys588Arg)
c.1715A>G (p.Lys572Arg)
c.1622A>G (p.Lys541Arg)
c.1127A>G (p.Lys376Arg)
n.2094A>G
9g.74802051T>GCA373688587TRPM6c.1856A>C (p.Lys619Thr)
c.1841A>C (p.Lys614Thr)
c.1763A>C (p.Lys588Thr)
c.1715A>C (p.Lys572Thr)
c.1622A>C (p.Lys541Thr)
c.1127A>C (p.Lys376Thr)
n.2094A>C
9g.74802052T>ACA373688589TRPM6c.1855A>T (p.Lys619Ter)
c.1840A>T (p.Lys614Ter)
c.1762A>T (p.Lys588Ter)
c.1714A>T (p.Lys572Ter)
c.1621A>T (p.Lys541Ter)
c.1126A>T (p.Lys376Ter)
n.2093A>T
9g.74802052T>CCA373688590TRPM6c.1855A>G (p.Lys619Glu)
c.1840A>G (p.Lys614Glu)
c.1762A>G (p.Lys588Glu)
c.1714A>G (p.Lys572Glu)
c.1621A>G (p.Lys541Glu)
c.1126A>G (p.Lys376Glu)
n.2093A>G
9g.74802052T>GCA373688591TRPM6c.1855A>C (p.Lys619Gln)
c.1840A>C (p.Lys614Gln)
c.1762A>C (p.Lys588Gln)
c.1714A>C (p.Lys572Gln)
c.1621A>C (p.Lys541Gln)
c.1126A>C (p.Lys376Gln)
n.2093A>C
9g.74802053C>ACA373688592TRPM6c.1854G>T (p.Met618Ile)
c.1839G>T (p.Met613Ile)
c.1761G>T (p.Met587Ile)
c.1713G>T (p.Met571Ile)
c.1620G>T (p.Met540Ile)
c.1125G>T (p.Met375Ile)
n.2092G>T
9g.74802053C>GCA373688593TRPM6c.1854G>C (p.Met618Ile)
c.1839G>C (p.Met613Ile)
c.1761G>C (p.Met587Ile)
c.1713G>C (p.Met571Ile)
c.1620G>C (p.Met540Ile)
c.1125G>C (p.Met375Ile)
n.2092G>C
9g.74802053C>TCA373688594TRPM6c.1854G>A (p.Met618Ile)
c.1839G>A (p.Met613Ile)
c.1761G>A (p.Met587Ile)
c.1713G>A (p.Met571Ile)
c.1620G>A (p.Met540Ile)
c.1125G>A (p.Met375Ile)
n.2092G>A
9g.74802054A>CCA373688595TRPM6c.1853T>G (p.Met618Arg)
c.1838T>G (p.Met613Arg)
c.1760T>G (p.Met587Arg)
c.1712T>G (p.Met571Arg)
c.1619T>G (p.Met540Arg)
c.1124T>G (p.Met375Arg)
n.2091T>G
9g.74802054A>GCA373688596TRPM6c.1853T>C (p.Met618Thr)
c.1838T>C (p.Met613Thr)
c.1760T>C (p.Met587Thr)
c.1712T>C (p.Met571Thr)
c.1619T>C (p.Met540Thr)
c.1124T>C (p.Met375Thr)
n.2091T>C
9g.74802054A>TCA373688597TRPM6c.1853T>A (p.Met618Lys)
c.1838T>A (p.Met613Lys)
c.1760T>A (p.Met587Lys)
c.1712T>A (p.Met571Lys)
c.1619T>A (p.Met540Lys)
c.1124T>A (p.Met375Lys)
n.2091T>A
9g.74802055T>ACA373688598TRPM6c.1852A>T (p.Met618Leu)
c.1837A>T (p.Met613Leu)
c.1759A>T (p.Met587Leu)
c.1711A>T (p.Met571Leu)
c.1618A>T (p.Met540Leu)
c.1123A>T (p.Met375Leu)
n.2090A>T
dbSNP gnomAD v3 gnomAD v4
9g.74802055T>CCA373688599TRPM6c.1852A>G (p.Met618Val)
c.1837A>G (p.Met613Val)
c.1759A>G (p.Met587Val)
c.1711A>G (p.Met571Val)
c.1618A>G (p.Met540Val)
c.1123A>G (p.Met375Val)
n.2090A>G
9g.74802055T>GCA373688600TRPM6c.1852A>C (p.Met618Leu)
c.1837A>C (p.Met613Leu)
c.1759A>C (p.Met587Leu)
c.1711A>C (p.Met571Leu)
c.1618A>C (p.Met540Leu)
c.1123A>C (p.Met375Leu)
n.2090A>C
9g.74802055T=CA1856045902TRPM6c.1852A= (p.Met618=)
c.1837A= (p.Met613=)
c.1759A= (p.Met587=)
c.1711A= (p.Met571=)
c.1618A= (p.Met540=)
c.1123A= (p.Met375=)
n.2090A=
9g.74802056C>ACA465615440TRPM6c.1851G>T (p.Leu617=)
c.1836G>T (p.Leu612=)
c.1758G>T (p.Leu586=)
c.1710G>T (p.Leu570=)
c.1617G>T (p.Leu539=)
c.1122G>T (p.Leu374=)
n.2089G>T
9g.74802056C=CA1856045903TRPM6c.1851G= (p.Leu617=)
c.1836G= (p.Leu612=)
c.1758G= (p.Leu586=)
c.1710G= (p.Leu570=)
c.1617G= (p.Leu539=)
c.1122G= (p.Leu374=)
n.2089G=
9g.74802056C>GCA465615441TRPM6c.1851G>C (p.Leu617=)
c.1836G>C (p.Leu612=)
c.1758G>C (p.Leu586=)
c.1710G>C (p.Leu570=)
c.1617G>C (p.Leu539=)
c.1122G>C (p.Leu374=)
n.2089G>C
9g.74802056C>TCA5084708TRPM6c.1851G>A (p.Leu617=)
c.1836G>A (p.Leu612=)
c.1758G>A (p.Leu586=)
c.1710G>A (p.Leu570=)
c.1617G>A (p.Leu539=)
c.1122G>A (p.Leu374=)
n.2089G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.74802057A>CCA373688601TRPM6c.1850T>G (p.Leu617Arg)
c.1835T>G (p.Leu612Arg)
c.1757T>G (p.Leu586Arg)
c.1709T>G (p.Leu570Arg)
c.1616T>G (p.Leu539Arg)
c.1121T>G (p.Leu374Arg)
n.2088T>G
9g.74802057A>GCA373688603TRPM6c.1850T>C (p.Leu617Pro)
c.1835T>C (p.Leu612Pro)
c.1757T>C (p.Leu586Pro)
c.1709T>C (p.Leu570Pro)
c.1616T>C (p.Leu539Pro)
c.1121T>C (p.Leu374Pro)
n.2088T>C
gnomAD v4
9g.74802057A>TCA373688602TRPM6c.1850T>A (p.Leu617Gln)
c.1835T>A (p.Leu612Gln)
c.1757T>A (p.Leu586Gln)
c.1709T>A (p.Leu570Gln)
c.1616T>A (p.Leu539Gln)
c.1121T>A (p.Leu374Gln)
n.2088T>A
9g.74802058G>ACA465615442TRPM6c.1849C>T (p.Leu617=)
c.1834C>T (p.Leu612=)
c.1756C>T (p.Leu586=)
c.1708C>T (p.Leu570=)
c.1615C>T (p.Leu539=)
c.1120C>T (p.Leu374=)
n.2087C>T
dbSNP gnomAD v2 gnomAD v4
9g.74802058G>CCA373688604TRPM6c.1849C>G (p.Leu617Val)
c.1834C>G (p.Leu612Val)
c.1756C>G (p.Leu586Val)
c.1708C>G (p.Leu570Val)
c.1615C>G (p.Leu539Val)
c.1120C>G (p.Leu374Val)
n.2087C>G
9g.74802058G=CA1856045904TRPM6c.1849C= (p.Leu617=)
c.1834C= (p.Leu612=)
c.1756C= (p.Leu586=)
c.1708C= (p.Leu570=)
c.1615C= (p.Leu539=)
c.1120C= (p.Leu374=)
n.2087C=
9g.74802058G>TCA373688605TRPM6c.1849C>A (p.Leu617Met)
c.1834C>A (p.Leu612Met)
c.1756C>A (p.Leu586Met)
c.1708C>A (p.Leu570Met)
c.1615C>A (p.Leu539Met)
c.1120C>A (p.Leu374Met)
n.2087C>A
9g.74802059C>ACA465615443TRPM6c.1848G>T (p.Val616=)
c.1833G>T (p.Val611=)
c.1755G>T (p.Val585=)
c.1707G>T (p.Val569=)
c.1614G>T (p.Val538=)
c.1119G>T (p.Val373=)
n.2086G>T
9g.74802059C=CA1856045905TRPM6c.1848G= (p.Val616=)
c.1833G= (p.Val611=)
c.1755G= (p.Val585=)
c.1707G= (p.Val569=)
c.1614G= (p.Val538=)
c.1119G= (p.Val373=)
n.2086G=
9g.74802059C>GCA5084710TRPM6c.1848G>C (p.Val616=)
c.1833G>C (p.Val611=)
c.1755G>C (p.Val585=)
c.1707G>C (p.Val569=)
c.1614G>C (p.Val538=)
c.1119G>C (p.Val373=)
n.2086G>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.74802059C>TCA5084709TRPM6c.1848G>A (p.Val616=)
c.1833G>A (p.Val611=)
c.1755G>A (p.Val585=)
c.1707G>A (p.Val569=)
c.1614G>A (p.Val538=)
c.1119G>A (p.Val373=)
n.2086G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74802060A>CCA373688606TRPM6c.1847T>G (p.Val616Gly)
c.1832T>G (p.Val611Gly)
c.1754T>G (p.Val585Gly)
c.1706T>G (p.Val569Gly)
c.1613T>G (p.Val538Gly)
c.1118T>G (p.Val373Gly)
n.2085T>G
9g.74802060A>GCA373688607TRPM6c.1847T>C (p.Val616Ala)
c.1832T>C (p.Val611Ala)
c.1754T>C (p.Val585Ala)
c.1706T>C (p.Val569Ala)
c.1613T>C (p.Val538Ala)
c.1118T>C (p.Val373Ala)
n.2085T>C
9g.74802060A>TCA373688608TRPM6c.1847T>A (p.Val616Glu)
c.1832T>A (p.Val611Glu)
c.1754T>A (p.Val585Glu)
c.1706T>A (p.Val569Glu)
c.1613T>A (p.Val538Glu)
c.1118T>A (p.Val373Glu)
n.2085T>A
9g.74802061C>ACA373688609TRPM6c.1846G>T (p.Val616Leu)
c.1831G>T (p.Val611Leu)
c.1753G>T (p.Val585Leu)
c.1705G>T (p.Val569Leu)
c.1612G>T (p.Val538Leu)
c.1117G>T (p.Val373Leu)
n.2084G>T
9g.74802061C>GCA373688610TRPM6c.1846G>C (p.Val616Leu)
c.1831G>C (p.Val611Leu)
c.1753G>C (p.Val585Leu)
c.1705G>C (p.Val569Leu)
c.1612G>C (p.Val538Leu)
c.1117G>C (p.Val373Leu)
n.2084G>C
9g.74802061C>TCA373688611TRPM6c.1846G>A (p.Val616Met)
c.1831G>A (p.Val611Met)
c.1753G>A (p.Val585Met)
c.1705G>A (p.Val569Met)
c.1612G>A (p.Val538Met)
c.1117G>A (p.Val373Met)
n.2084G>A
9g.74802062A>CCA465615444TRPM6c.1845T>G (p.Ala615=)
c.1830T>G (p.Ala610=)
c.1752T>G (p.Ala584=)
c.1704T>G (p.Ala568=)
c.1611T>G (p.Ala537=)
c.1116T>G (p.Ala372=)
n.2083T>G
9g.74802062A>GCA465615445TRPM6c.1845T>C (p.Ala615=)
c.1830T>C (p.Ala610=)
c.1752T>C (p.Ala584=)
c.1704T>C (p.Ala568=)
c.1611T>C (p.Ala537=)
c.1116T>C (p.Ala372=)
n.2083T>C
9g.74802062A>TCA465615446TRPM6c.1845T>A (p.Ala615=)
c.1830T>A (p.Ala610=)
c.1752T>A (p.Ala584=)
c.1704T>A (p.Ala568=)
c.1611T>A (p.Ala537=)
c.1116T>A (p.Ala372=)
n.2083T>A
9g.74802063G>ACA373688614TRPM6c.1844C>T (p.Ala615Val)
c.1829C>T (p.Ala610Val)
c.1751C>T (p.Ala584Val)
c.1703C>T (p.Ala568Val)
c.1610C>T (p.Ala537Val)
c.1115C>T (p.Ala372Val)
n.2082C>T
dbSNP
9g.74802063G>CCA373688613TRPM6c.1844C>G (p.Ala615Gly)
c.1829C>G (p.Ala610Gly)
c.1751C>G (p.Ala584Gly)
c.1703C>G (p.Ala568Gly)
c.1610C>G (p.Ala537Gly)
c.1115C>G (p.Ala372Gly)
n.2082C>G
9g.74802063G>TCA373688612TRPM6c.1844C>A (p.Ala615Asp)
c.1829C>A (p.Ala610Asp)
c.1751C>A (p.Ala584Asp)
c.1703C>A (p.Ala568Asp)
c.1610C>A (p.Ala537Asp)
c.1115C>A (p.Ala372Asp)
n.2082C>A
9g.74802064C>ACA373688615TRPM6c.1843G>T (p.Ala615Ser)
c.1828G>T (p.Ala610Ser)
c.1750G>T (p.Ala584Ser)
c.1702G>T (p.Ala568Ser)
c.1609G>T (p.Ala537Ser)
c.1114G>T (p.Ala372Ser)
n.2081G>T
dbSNP gnomAD v3 gnomAD v4
9g.74802064C=CA1856045906TRPM6c.1843G= (p.Ala615=)
c.1828G= (p.Ala610=)
c.1750G= (p.Ala584=)
c.1702G= (p.Ala568=)
c.1609G= (p.Ala537=)
c.1114G= (p.Ala372=)
n.2081G=
9g.74802064C>GCA373688616TRPM6c.1843G>C (p.Ala615Pro)
c.1828G>C (p.Ala610Pro)
c.1750G>C (p.Ala584Pro)
c.1702G>C (p.Ala568Pro)
c.1609G>C (p.Ala537Pro)
c.1114G>C (p.Ala372Pro)
n.2081G>C
dbSNP
9g.74802064C>TCA373688617TRPM6c.1843G>A (p.Ala615Thr)
c.1828G>A (p.Ala610Thr)
c.1750G>A (p.Ala584Thr)
c.1702G>A (p.Ala568Thr)
c.1609G>A (p.Ala537Thr)
c.1114G>A (p.Ala372Thr)
n.2081G>A
9g.74802065C>ACA373688618TRPM6c.1842G>T (p.Trp614Cys)
c.1827G>T (p.Trp609Cys)
c.1749G>T (p.Trp583Cys)
c.1701G>T (p.Trp567Cys)
c.1608G>T (p.Trp536Cys)
c.1113G>T (p.Trp371Cys)
n.2080G>T
9g.74802065C=CA1856045907TRPM6c.1842G= (p.Trp614=)
c.1827G= (p.Trp609=)
c.1749G= (p.Trp583=)
c.1701G= (p.Trp567=)
c.1608G= (p.Trp536=)
c.1113G= (p.Trp371=)
n.2080G=
9g.74802065C>GCA373688619TRPM6c.1842G>C (p.Trp614Cys)
c.1827G>C (p.Trp609Cys)
c.1749G>C (p.Trp583Cys)
c.1701G>C (p.Trp567Cys)
c.1608G>C (p.Trp536Cys)
c.1113G>C (p.Trp371Cys)
n.2080G>C
9g.74802065C>TCA5084711TRPM6c.1842G>A (p.Trp614Ter)
c.1827G>A (p.Trp609Ter)
c.1749G>A (p.Trp583Ter)
c.1701G>A (p.Trp567Ter)
c.1608G>A (p.Trp536Ter)
c.1113G>A (p.Trp371Ter)
n.2080G>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.74802066C>ACA373688620TRPM6c.1841G>T (p.Trp614Leu)
c.1826G>T (p.Trp609Leu)
c.1748G>T (p.Trp583Leu)
c.1700G>T (p.Trp567Leu)
c.1607G>T (p.Trp536Leu)
c.1112G>T (p.Trp371Leu)
n.2079G>T
gnomAD v4 COSMIC COSMIC COSMIC
9g.74802066C>GCA373688621TRPM6c.1841G>C (p.Trp614Ser)
c.1826G>C (p.Trp609Ser)
c.1748G>C (p.Trp583Ser)
c.1700G>C (p.Trp567Ser)
c.1607G>C (p.Trp536Ser)
c.1112G>C (p.Trp371Ser)
n.2079G>C
9g.74802066C>TCA373688622TRPM6c.1841G>A (p.Trp614Ter)
c.1826G>A (p.Trp609Ter)
c.1748G>A (p.Trp583Ter)
c.1700G>A (p.Trp567Ter)
c.1607G>A (p.Trp536Ter)
c.1112G>A (p.Trp371Ter)
n.2079G>A
9g.74802067A>CCA373688623TRPM6c.1840T>G (p.Trp614Gly)
c.1825T>G (p.Trp609Gly)
c.1747T>G (p.Trp583Gly)
c.1699T>G (p.Trp567Gly)
c.1606T>G (p.Trp536Gly)
c.1111T>G (p.Trp371Gly)
n.2078T>G
9g.74802067A>GCA373688624TRPM6c.1840T>C (p.Trp614Arg)
c.1825T>C (p.Trp609Arg)
c.1747T>C (p.Trp583Arg)
c.1699T>C (p.Trp567Arg)
c.1606T>C (p.Trp536Arg)
c.1111T>C (p.Trp371Arg)
n.2078T>C
9g.74802067A>TCA373688625TRPM6c.1840T>A (p.Trp614Arg)
c.1825T>A (p.Trp609Arg)
c.1747T>A (p.Trp583Arg)
c.1699T>A (p.Trp567Arg)
c.1606T>A (p.Trp536Arg)
c.1111T>A (p.Trp371Arg)
n.2078T>A
9g.74802068A=CA1856045908TRPM6c.1839T= (p.Val613=)
c.1824T= (p.Val608=)
c.1746T= (p.Val582=)
c.1698T= (p.Val566=)
c.1605T= (p.Val535=)
c.1110T= (p.Val370=)
n.2077T=
9g.74802068A>CCA5084712TRPM6c.1839T>G (p.Val613=)
c.1824T>G (p.Val608=)
c.1746T>G (p.Val582=)
c.1698T>G (p.Val566=)
c.1605T>G (p.Val535=)
c.1110T>G (p.Val370=)
n.2077T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74802068A>GCA465615447TRPM6c.1839T>C (p.Val613=)
c.1824T>C (p.Val608=)
c.1746T>C (p.Val582=)
c.1698T>C (p.Val566=)
c.1605T>C (p.Val535=)
c.1110T>C (p.Val370=)
n.2077T>C
9g.74802068A>TCA465615448TRPM6c.1839T>A (p.Val613=)
c.1824T>A (p.Val608=)
c.1746T>A (p.Val582=)
c.1698T>A (p.Val566=)
c.1605T>A (p.Val535=)
c.1110T>A (p.Val370=)
n.2077T>A
9g.74802069A>CCA373688628TRPM6c.1838T>G (p.Val613Gly)
c.1823T>G (p.Val608Gly)
c.1745T>G (p.Val582Gly)
c.1697T>G (p.Val566Gly)
c.1604T>G (p.Val535Gly)
c.1109T>G (p.Val370Gly)
n.2076T>G
9g.74802069A>GCA373688626TRPM6c.1838T>C (p.Val613Ala)
c.1823T>C (p.Val608Ala)
c.1745T>C (p.Val582Ala)
c.1697T>C (p.Val566Ala)
c.1604T>C (p.Val535Ala)
c.1109T>C (p.Val370Ala)
n.2076T>C
9g.74802069A>TCA373688627TRPM6c.1838T>A (p.Val613Asp)
c.1823T>A (p.Val608Asp)
c.1745T>A (p.Val582Asp)
c.1697T>A (p.Val566Asp)
c.1604T>A (p.Val535Asp)
c.1109T>A (p.Val370Asp)
n.2076T>A
9g.74802070C>ACA373688629TRPM6c.1837G>T (p.Val613Phe)
c.1822G>T (p.Val608Phe)
c.1744G>T (p.Val582Phe)
c.1696G>T (p.Val566Phe)
c.1603G>T (p.Val535Phe)
c.1108G>T (p.Val370Phe)
n.2075G>T
gnomAD v4
9g.74802070C=CA1856045909TRPM6c.1837G= (p.Val613=)
c.1822G= (p.Val608=)
c.1744G= (p.Val582=)
c.1696G= (p.Val566=)
c.1603G= (p.Val535=)
c.1108G= (p.Val370=)
n.2075G=
9g.74802070C>GCA373688630TRPM6c.1837G>C (p.Val613Leu)
c.1822G>C (p.Val608Leu)
c.1744G>C (p.Val582Leu)
c.1696G>C (p.Val566Leu)
c.1603G>C (p.Val535Leu)
c.1108G>C (p.Val370Leu)
n.2075G>C
9g.74802070C>TCA373688631TRPM6c.1837G>A (p.Val613Ile)
c.1822G>A (p.Val608Ile)
c.1744G>A (p.Val582Ile)
c.1696G>A (p.Val566Ile)
c.1603G>A (p.Val535Ile)
c.1108G>A (p.Val370Ile)
n.2075G>A
dbSNP gnomAD v2 gnomAD v4
9g.74802070_74802071insACACCCAACACA2784659390TRPM6c.1836_1837insTGTTGGGTGT (p.Val613CysfsTer28)
c.1821_1822insTGTTGGGTGT (p.Val608CysfsTer28)
c.1743_1744insTGTTGGGTGT (p.Val582CysfsTer28)
c.1695_1696insTGTTGGGTGT (p.Val566CysfsTer28)
c.1602_1603insTGTTGGGTGT (p.Val535CysfsTer28)
c.1107_1108insTGTTGGGTGT (p.Val370CysfsTer28)
n.2074_2075insTGTTGGGTGT
9g.74802071C>ACA465615449TRPM6c.1836G>T (p.Leu612=)
c.1821G>T (p.Leu607=)
c.1743G>T (p.Leu581=)
c.1695G>T (p.Leu565=)
c.1602G>T (p.Leu534=)
c.1107G>T (p.Leu369=)
n.2074G>T
9g.74802071C=CA1856045910TRPM6c.1836G= (p.Leu612=)
c.1821G= (p.Leu607=)
c.1743G= (p.Leu581=)
c.1695G= (p.Leu565=)
c.1602G= (p.Leu534=)
c.1107G= (p.Leu369=)
n.2074G=
9g.74802071C>GCA465615450TRPM6c.1836G>C (p.Leu612=)
c.1821G>C (p.Leu607=)
c.1743G>C (p.Leu581=)
c.1695G>C (p.Leu565=)
c.1602G>C (p.Leu534=)
c.1107G>C (p.Leu369=)
n.2074G>C
9g.74802071C>TCA465615451TRPM6c.1836G>A (p.Leu612=)
c.1821G>A (p.Leu607=)
c.1743G>A (p.Leu581=)
c.1695G>A (p.Leu565=)
c.1602G>A (p.Leu534=)
c.1107G>A (p.Leu369=)
n.2074G>A
dbSNP gnomAD v4
9g.74802072A>CCA373688632TRPM6c.1835T>G (p.Leu612Arg)
c.1820T>G (p.Leu607Arg)
c.1742T>G (p.Leu581Arg)
c.1694T>G (p.Leu565Arg)
c.1601T>G (p.Leu534Arg)
c.1106T>G (p.Leu369Arg)
n.2073T>G
9g.74802072A>GCA373688633TRPM6c.1835T>C (p.Leu612Pro)
c.1820T>C (p.Leu607Pro)
c.1742T>C (p.Leu581Pro)
c.1694T>C (p.Leu565Pro)
c.1601T>C (p.Leu534Pro)
c.1106T>C (p.Leu369Pro)
n.2073T>C
9g.74802072A>TCA373688634TRPM6c.1835T>A (p.Leu612Gln)
c.1820T>A (p.Leu607Gln)
c.1742T>A (p.Leu581Gln)
c.1694T>A (p.Leu565Gln)
c.1601T>A (p.Leu534Gln)
c.1106T>A (p.Leu369Gln)
n.2073T>A
9g.74802073G>ACA5084713TRPM6c.1834C>T (p.Leu612=)
c.1819C>T (p.Leu607=)
c.1741C>T (p.Leu581=)
c.1693C>T (p.Leu565=)
c.1600C>T (p.Leu534=)
c.1105C>T (p.Leu369=)
n.2072C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74802073G>CCA373688635TRPM6c.1834C>G (p.Leu612Val)
c.1819C>G (p.Leu607Val)
c.1741C>G (p.Leu581Val)
c.1693C>G (p.Leu565Val)
c.1600C>G (p.Leu534Val)
c.1105C>G (p.Leu369Val)
n.2072C>G
9g.74802073G=CA1856045911TRPM6c.1834C= (p.Leu612=)
c.1819C= (p.Leu607=)
c.1741C= (p.Leu581=)
c.1693C= (p.Leu565=)
c.1600C= (p.Leu534=)
c.1105C= (p.Leu369=)
n.2072C=
9g.74802073G>TCA373688636TRPM6c.1834C>A (p.Leu612Met)
c.1819C>A (p.Leu607Met)
c.1741C>A (p.Leu581Met)
c.1693C>A (p.Leu565Met)
c.1600C>A (p.Leu534Met)
c.1105C>A (p.Leu369Met)
n.2072C>A
9g.74802074C>ACA465615454TRPM6c.1833G>T (p.Leu611=)
c.1818G>T (p.Leu606=)
c.1740G>T (p.Leu580=)
c.1692G>T (p.Leu564=)
c.1599G>T (p.Leu533=)
c.1104G>T (p.Leu368=)
n.2071G>T
9g.74802074C>GCA465615452TRPM6c.1833G>C (p.Leu611=)
c.1818G>C (p.Leu606=)
c.1740G>C (p.Leu580=)
c.1692G>C (p.Leu564=)
c.1599G>C (p.Leu533=)
c.1104G>C (p.Leu368=)
n.2071G>C
9g.74802074C>TCA465615453TRPM6c.1833G>A (p.Leu611=)
c.1818G>A (p.Leu606=)
c.1740G>A (p.Leu580=)
c.1692G>A (p.Leu564=)
c.1599G>A (p.Leu533=)
c.1104G>A (p.Leu368=)
n.2071G>A
gnomAD v4
9g.74802075A=CA1856045912TRPM6c.1832T= (p.Leu611=)
c.1817T= (p.Leu606=)
c.1739T= (p.Leu580=)
c.1691T= (p.Leu564=)
c.1598T= (p.Leu533=)
c.1103T= (p.Leu368=)
n.2070T=
9g.74802075A>CCA373688637TRPM6c.1832T>G (p.Leu611Arg)
c.1817T>G (p.Leu606Arg)
c.1739T>G (p.Leu580Arg)
c.1691T>G (p.Leu564Arg)
c.1598T>G (p.Leu533Arg)
c.1103T>G (p.Leu368Arg)
n.2070T>G
9g.74802075A>GCA373688638TRPM6c.1832T>C (p.Leu611Pro)
c.1817T>C (p.Leu606Pro)
c.1739T>C (p.Leu580Pro)
c.1691T>C (p.Leu564Pro)
c.1598T>C (p.Leu533Pro)
c.1103T>C (p.Leu368Pro)
n.2070T>C
9g.74802075A>TCA373688639TRPM6c.1832T>A (p.Leu611Gln)
c.1817T>A (p.Leu606Gln)
c.1739T>A (p.Leu580Gln)
c.1691T>A (p.Leu564Gln)
c.1598T>A (p.Leu533Gln)
c.1103T>A (p.Leu368Gln)
n.2070T>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.74802076G>ACA465615455TRPM6c.1831C>T (p.Leu611=)
c.1816C>T (p.Leu606=)
c.1738C>T (p.Leu580=)
c.1690C>T (p.Leu564=)
c.1597C>T (p.Leu533=)
c.1102C>T (p.Leu368=)
n.2069C>T
9g.74802076G>CCA373688640TRPM6c.1831C>G (p.Leu611Val)
c.1816C>G (p.Leu606Val)
c.1738C>G (p.Leu580Val)
c.1690C>G (p.Leu564Val)
c.1597C>G (p.Leu533Val)
c.1102C>G (p.Leu368Val)
n.2069C>G
9g.74802076G>TCA373688641TRPM6c.1831C>A (p.Leu611Met)
c.1816C>A (p.Leu606Met)
c.1738C>A (p.Leu580Met)
c.1690C>A (p.Leu564Met)
c.1597C>A (p.Leu533Met)
c.1102C>A (p.Leu368Met)
n.2069C>A
9g.74802077G>ACA465615456TRPM6c.1830C>T (p.Asp610=)
c.1815C>T (p.Asp605=)
c.1737C>T (p.Asp579=)
c.1689C>T (p.Asp563=)
c.1596C>T (p.Asp532=)
c.1101C>T (p.Asp367=)
n.2068C>T
COSMIC COSMIC COSMIC
9g.74802077G>CCA373688642TRPM6c.1830C>G (p.Asp610Glu)
c.1815C>G (p.Asp605Glu)
c.1737C>G (p.Asp579Glu)
c.1689C>G (p.Asp563Glu)
c.1596C>G (p.Asp532Glu)
c.1101C>G (p.Asp367Glu)
n.2068C>G
gnomAD v4
9g.74802077G>TCA373688643TRPM6c.1830C>A (p.Asp610Glu)
c.1815C>A (p.Asp605Glu)
c.1737C>A (p.Asp579Glu)
c.1689C>A (p.Asp563Glu)
c.1596C>A (p.Asp532Glu)
c.1101C>A (p.Asp367Glu)
n.2068C>A
9g.74802078T>ACA373688644TRPM6c.1829A>T (p.Asp610Val)
c.1814A>T (p.Asp605Val)
c.1736A>T (p.Asp579Val)
c.1688A>T (p.Asp563Val)
c.1595A>T (p.Asp532Val)
c.1100A>T (p.Asp367Val)
n.2067A>T
9g.74802078T>CCA373688645TRPM6c.1829A>G (p.Asp610Gly)
c.1814A>G (p.Asp605Gly)
c.1736A>G (p.Asp579Gly)
c.1688A>G (p.Asp563Gly)
c.1595A>G (p.Asp532Gly)
c.1100A>G (p.Asp367Gly)
n.2067A>G
COSMIC
9g.74802078T>GCA373688646TRPM6c.1829A>C (p.Asp610Ala)
c.1814A>C (p.Asp605Ala)
c.1736A>C (p.Asp579Ala)
c.1688A>C (p.Asp563Ala)
c.1595A>C (p.Asp532Ala)
c.1100A>C (p.Asp367Ala)
n.2067A>C
9g.74802079C>ACA373688647TRPM6c.1828G>T (p.Asp610Tyr)
c.1813G>T (p.Asp605Tyr)
c.1735G>T (p.Asp579Tyr)
c.1687G>T (p.Asp563Tyr)
c.1594G>T (p.Asp532Tyr)
c.1099G>T (p.Asp367Tyr)
n.2066G>T
9g.74802079C>GCA373688648TRPM6c.1828G>C (p.Asp610His)
c.1813G>C (p.Asp605His)
c.1735G>C (p.Asp579His)
c.1687G>C (p.Asp563His)
c.1594G>C (p.Asp532His)
c.1099G>C (p.Asp367His)
n.2066G>C
9g.74802079C>TCA373688649TRPM6c.1828G>A (p.Asp610Asn)
c.1813G>A (p.Asp605Asn)
c.1735G>A (p.Asp579Asn)
c.1687G>A (p.Asp563Asn)
c.1594G>A (p.Asp532Asn)
c.1099G>A (p.Asp367Asn)
n.2066G>A
9g.74802080A>CCA373688650TRPM6c.1827T>G (p.Asn609Lys)
c.1812T>G (p.Asn604Lys)
c.1734T>G (p.Asn578Lys)
c.1686T>G (p.Asn562Lys)
c.1593T>G (p.Asn531Lys)
c.1098T>G (p.Asn366Lys)
n.2065T>G
9g.74802080A>GCA465615457TRPM6c.1827T>C (p.Asn609=)
c.1812T>C (p.Asn604=)
c.1734T>C (p.Asn578=)
c.1686T>C (p.Asn562=)
c.1593T>C (p.Asn531=)
c.1098T>C (p.Asn366=)
n.2065T>C
9g.74802080A>TCA373688651TRPM6c.1827T>A (p.Asn609Lys)
c.1812T>A (p.Asn604Lys)
c.1734T>A (p.Asn578Lys)
c.1686T>A (p.Asn562Lys)
c.1593T>A (p.Asn531Lys)
c.1098T>A (p.Asn366Lys)
n.2065T>A
9g.74802081T>ACA373688652TRPM6c.1826A>T (p.Asn609Ile)
c.1811A>T (p.Asn604Ile)
c.1733A>T (p.Asn578Ile)
c.1685A>T (p.Asn562Ile)
c.1592A>T (p.Asn531Ile)
c.1097A>T (p.Asn366Ile)
n.2064A>T
9g.74802081T>CCA373688653TRPM6c.1826A>G (p.Asn609Ser)
c.1811A>G (p.Asn604Ser)
c.1733A>G (p.Asn578Ser)
c.1685A>G (p.Asn562Ser)
c.1592A>G (p.Asn531Ser)
c.1097A>G (p.Asn366Ser)
n.2064A>G
gnomAD v4
9g.74802081T>GCA373688654TRPM6c.1826A>C (p.Asn609Thr)
c.1811A>C (p.Asn604Thr)
c.1733A>C (p.Asn578Thr)
c.1685A>C (p.Asn562Thr)
c.1592A>C (p.Asn531Thr)
c.1097A>C (p.Asn366Thr)
n.2064A>C
9g.74802082T>ACA373688655TRPM6c.1825A>T (p.Asn609Tyr)
c.1810A>T (p.Asn604Tyr)
c.1732A>T (p.Asn578Tyr)
c.1684A>T (p.Asn562Tyr)
c.1591A>T (p.Asn531Tyr)
c.1096A>T (p.Asn366Tyr)
n.2063A>T
dbSNP
9g.74802082T>CCA373688656TRPM6c.1825A>G (p.Asn609Asp)
c.1810A>G (p.Asn604Asp)
c.1732A>G (p.Asn578Asp)
c.1684A>G (p.Asn562Asp)
c.1591A>G (p.Asn531Asp)
c.1096A>G (p.Asn366Asp)
n.2063A>G
dbSNP gnomAD v2
9g.74802082T>GCA373688657TRPM6c.1825A>C (p.Asn609His)
c.1810A>C (p.Asn604His)
c.1732A>C (p.Asn578His)
c.1684A>C (p.Asn562His)
c.1591A>C (p.Asn531His)
c.1096A>C (p.Asn366His)
n.2063A>C
9g.74802082T=CA1856045913TRPM6c.1825A= (p.Asn609=)
c.1810A= (p.Asn604=)
c.1732A= (p.Asn578=)
c.1684A= (p.Asn562=)
c.1591A= (p.Asn531=)
c.1096A= (p.Asn366=)
n.2063A=
9g.74802083_74802084delCA2579355869TRPM6c.1824_1825del (p.Tyr608Ter)
c.1809_1810del (p.Tyr603Ter)
c.1731_1732del (p.Tyr577Ter)
c.1683_1684del (p.Tyr561Ter)
c.1590_1591del (p.Tyr530Ter)
c.1095_1096del (p.Tyr365Ter)
n.2062_2063del
9g.74802083G>ACA465615458TRPM6c.1824C>T (p.Tyr608=)
c.1809C>T (p.Tyr603=)
c.1731C>T (p.Tyr577=)
c.1683C>T (p.Tyr561=)
c.1590C>T (p.Tyr530=)
c.1095C>T (p.Tyr365=)
n.2062C>T
9g.74802083G>CCA373688658TRPM6c.1824C>G (p.Tyr608Ter)
c.1809C>G (p.Tyr603Ter)
c.1731C>G (p.Tyr577Ter)
c.1683C>G (p.Tyr561Ter)
c.1590C>G (p.Tyr530Ter)
c.1095C>G (p.Tyr365Ter)
n.2062C>G
9g.74802083G>TCA373688659TRPM6c.1824C>A (p.Tyr608Ter)
c.1809C>A (p.Tyr603Ter)
c.1731C>A (p.Tyr577Ter)
c.1683C>A (p.Tyr561Ter)
c.1590C>A (p.Tyr530Ter)
c.1095C>A (p.Tyr365Ter)
n.2062C>A
9g.74802084T>ACA373688660TRPM6c.1823A>T (p.Tyr608Phe)
c.1808A>T (p.Tyr603Phe)
c.1730A>T (p.Tyr577Phe)
c.1682A>T (p.Tyr561Phe)
c.1589A>T (p.Tyr530Phe)
c.1094A>T (p.Tyr365Phe)
n.2061A>T
9g.74802084T>CCA373688661TRPM6c.1823A>G (p.Tyr608Cys)
c.1808A>G (p.Tyr603Cys)
c.1730A>G (p.Tyr577Cys)
c.1682A>G (p.Tyr561Cys)
c.1589A>G (p.Tyr530Cys)
c.1094A>G (p.Tyr365Cys)
n.2061A>G
dbSNP gnomAD v2 gnomAD v4
9g.74802084T>GCA373688662TRPM6c.1823A>C (p.Tyr608Ser)
c.1808A>C (p.Tyr603Ser)
c.1730A>C (p.Tyr577Ser)
c.1682A>C (p.Tyr561Ser)
c.1589A>C (p.Tyr530Ser)
c.1094A>C (p.Tyr365Ser)
n.2061A>C
9g.74802084T=CA1856045914TRPM6c.1823A= (p.Tyr608=)
c.1808A= (p.Tyr603=)
c.1730A= (p.Tyr577=)
c.1682A= (p.Tyr561=)
c.1589A= (p.Tyr530=)
c.1094A= (p.Tyr365=)
n.2061A=
9g.74802085A>CCA373688663TRPM6c.1822T>G (p.Tyr608Asp)
c.1807T>G (p.Tyr603Asp)
c.1729T>G (p.Tyr577Asp)
c.1681T>G (p.Tyr561Asp)
c.1588T>G (p.Tyr530Asp)
c.1093T>G (p.Tyr365Asp)
n.2060T>G
9g.74802085A>GCA373688664TRPM6c.1822T>C (p.Tyr608His)
c.1807T>C (p.Tyr603His)
c.1729T>C (p.Tyr577His)
c.1681T>C (p.Tyr561His)
c.1588T>C (p.Tyr530His)
c.1093T>C (p.Tyr365His)
n.2060T>C
dbSNP
9g.74802085A>TCA373688665TRPM6c.1822T>A (p.Tyr608Asn)
c.1807T>A (p.Tyr603Asn)
c.1729T>A (p.Tyr577Asn)
c.1681T>A (p.Tyr561Asn)
c.1588T>A (p.Tyr530Asn)
c.1093T>A (p.Tyr365Asn)
n.2060T>A
9g.74802086A>CCA465615459TRPM6c.1821T>G (p.Pro607=)
c.1806T>G (p.Pro602=)
c.1728T>G (p.Pro576=)
c.1680T>G (p.Pro560=)
c.1587T>G (p.Pro529=)
c.1092T>G (p.Pro364=)
n.2059T>G
9g.74802086A>GCA465615460TRPM6c.1821T>C (p.Pro607=)
c.1806T>C (p.Pro602=)
c.1728T>C (p.Pro576=)
c.1680T>C (p.Pro560=)
c.1587T>C (p.Pro529=)
c.1092T>C (p.Pro364=)
n.2059T>C
9g.74802086A>TCA465615461TRPM6c.1821T>A (p.Pro607=)
c.1806T>A (p.Pro602=)
c.1728T>A (p.Pro576=)
c.1680T>A (p.Pro560=)
c.1587T>A (p.Pro529=)
c.1092T>A (p.Pro364=)
n.2059T>A
9g.74802087G>ACA373688666TRPM6c.1820C>T (p.Pro607Leu)
c.1805C>T (p.Pro602Leu)
c.1727C>T (p.Pro576Leu)
c.1679C>T (p.Pro560Leu)
c.1586C>T (p.Pro529Leu)
c.1091C>T (p.Pro364Leu)
n.2058C>T
9g.74802087G>CCA373688667TRPM6c.1820C>G (p.Pro607Arg)
c.1805C>G (p.Pro602Arg)
c.1727C>G (p.Pro576Arg)
c.1679C>G (p.Pro560Arg)
c.1586C>G (p.Pro529Arg)
c.1091C>G (p.Pro364Arg)
n.2058C>G
COSMIC COSMIC COSMIC
9g.74802087G>TCA373688668TRPM6c.1820C>A (p.Pro607His)
c.1805C>A (p.Pro602His)
c.1727C>A (p.Pro576His)
c.1679C>A (p.Pro560His)
c.1586C>A (p.Pro529His)
c.1091C>A (p.Pro364His)
n.2058C>A
9g.74802088G>ACA373688669TRPM6c.1819C>T (p.Pro607Ser)
c.1804C>T (p.Pro602Ser)
c.1726C>T (p.Pro576Ser)
c.1678C>T (p.Pro560Ser)
c.1585C>T (p.Pro529Ser)
c.1090C>T (p.Pro364Ser)
n.2057C>T
COSMIC COSMIC COSMIC COSMIC
9g.74802088G>CCA373688670TRPM6c.1819C>G (p.Pro607Ala)
c.1804C>G (p.Pro602Ala)
c.1726C>G (p.Pro576Ala)
c.1678C>G (p.Pro560Ala)
c.1585C>G (p.Pro529Ala)
c.1090C>G (p.Pro364Ala)
n.2057C>G
9g.74802088G>TCA373688671TRPM6c.1819C>A (p.Pro607Thr)
c.1804C>A (p.Pro602Thr)
c.1726C>A (p.Pro576Thr)
c.1678C>A (p.Pro560Thr)
c.1585C>A (p.Pro529Thr)
c.1090C>A (p.Pro364Thr)
n.2057C>A
9g.74802089G>ACA465615462TRPM6c.1818C>T (p.Tyr606=)
c.1803C>T (p.Tyr601=)
c.1725C>T (p.Tyr575=)
c.1677C>T (p.Tyr559=)
c.1584C>T (p.Tyr528=)
c.1089C>T (p.Tyr363=)
n.2056C>T
9g.74802089G>CCA373688673TRPM6c.1818C>G (p.Tyr606Ter)
c.1803C>G (p.Tyr601Ter)
c.1725C>G (p.Tyr575Ter)
c.1677C>G (p.Tyr559Ter)
c.1584C>G (p.Tyr528Ter)
c.1089C>G (p.Tyr363Ter)
n.2056C>G
9g.74802089G>TCA373688672TRPM6c.1818C>A (p.Tyr606Ter)
c.1803C>A (p.Tyr601Ter)
c.1725C>A (p.Tyr575Ter)
c.1677C>A (p.Tyr559Ter)
c.1584C>A (p.Tyr528Ter)
c.1089C>A (p.Tyr363Ter)
n.2056C>A
9g.74802090T>ACA373688674TRPM6c.1817A>T (p.Tyr606Phe)
c.1802A>T (p.Tyr601Phe)
c.1724A>T (p.Tyr575Phe)
c.1676A>T (p.Tyr559Phe)
c.1583A>T (p.Tyr528Phe)
c.1088A>T (p.Tyr363Phe)
n.2055A>T
9g.74802090T>CCA373688675TRPM6c.1817A>G (p.Tyr606Cys)
c.1802A>G (p.Tyr601Cys)
c.1724A>G (p.Tyr575Cys)
c.1676A>G (p.Tyr559Cys)
c.1583A>G (p.Tyr528Cys)
c.1088A>G (p.Tyr363Cys)
n.2055A>G
9g.74802090T>GCA373688676TRPM6c.1817A>C (p.Tyr606Ser)
c.1802A>C (p.Tyr601Ser)
c.1724A>C (p.Tyr575Ser)
c.1676A>C (p.Tyr559Ser)
c.1583A>C (p.Tyr528Ser)
c.1088A>C (p.Tyr363Ser)
n.2055A>C
9g.74802091A>CCA373688677TRPM6c.1816T>G (p.Tyr606Asp)
c.1801T>G (p.Tyr601Asp)
c.1723T>G (p.Tyr575Asp)
c.1675T>G (p.Tyr559Asp)
c.1582T>G (p.Tyr528Asp)
c.1087T>G (p.Tyr363Asp)
n.2054T>G
9g.74802091A>GCA373688678TRPM6c.1816T>C (p.Tyr606His)
c.1801T>C (p.Tyr601His)
c.1723T>C (p.Tyr575His)
c.1675T>C (p.Tyr559His)
c.1582T>C (p.Tyr528His)
c.1087T>C (p.Tyr363His)
n.2054T>C
9g.74802091A>TCA373688679TRPM6c.1816T>A (p.Tyr606Asn)
c.1801T>A (p.Tyr601Asn)
c.1723T>A (p.Tyr575Asn)
c.1675T>A (p.Tyr559Asn)
c.1582T>A (p.Tyr528Asn)
c.1087T>A (p.Tyr363Asn)
n.2054T>A
9g.74802092A>CCA465615463TRPM6c.1815T>G (p.Leu605=)
c.1800T>G (p.Leu600=)
c.1722T>G (p.Leu574=)
c.1674T>G (p.Leu558=)
c.1581T>G (p.Leu527=)
c.1086T>G (p.Leu362=)
n.2053T>G
9g.74802092A>GCA465615464TRPM6c.1815T>C (p.Leu605=)
c.1800T>C (p.Leu600=)
c.1722T>C (p.Leu574=)
c.1674T>C (p.Leu558=)
c.1581T>C (p.Leu527=)
c.1086T>C (p.Leu362=)
n.2053T>C
9g.74802092A>TCA465615465TRPM6c.1815T>A (p.Leu605=)
c.1800T>A (p.Leu600=)
c.1722T>A (p.Leu574=)
c.1674T>A (p.Leu558=)
c.1581T>A (p.Leu527=)
c.1086T>A (p.Leu362=)
n.2053T>A
9g.74802093A=CA1856045915TRPM6c.1814T= (p.Leu605=)
c.1799T= (p.Leu600=)
c.1721T= (p.Leu574=)
c.1673T= (p.Leu558=)
c.1580T= (p.Leu527=)
c.1085T= (p.Leu362=)
n.2052T=
9g.74802093A>CCA373688681TRPM6c.1814T>G (p.Leu605Arg)
c.1799T>G (p.Leu600Arg)
c.1721T>G (p.Leu574Arg)
c.1673T>G (p.Leu558Arg)
c.1580T>G (p.Leu527Arg)
c.1085T>G (p.Leu362Arg)
n.2052T>G
9g.74802093A>GCA5084714TRPM6c.1814T>C (p.Leu605Pro)
c.1799T>C (p.Leu600Pro)
c.1721T>C (p.Leu574Pro)
c.1673T>C (p.Leu558Pro)
c.1580T>C (p.Leu527Pro)
c.1085T>C (p.Leu362Pro)
n.2052T>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.74802093A>TCA373688680TRPM6c.1814T>A (p.Leu605His)
c.1799T>A (p.Leu600His)
c.1721T>A (p.Leu574His)
c.1673T>A (p.Leu558His)
c.1580T>A (p.Leu527His)
c.1085T>A (p.Leu362His)
n.2052T>A

Number of alleles fetched