Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.74801939G>ACA465615383TRPM6c.1968C>T (p.His656=)
c.1953C>T (p.His651=)
c.1875C>T (p.His625=)
c.1827C>T (p.His609=)
c.1734C>T (p.His578=)
c.1239C>T (p.His413=)
c.-96C>T (n.-96C>T)
n.2206C>T
gnomAD v4
9g.74801939G>CCA373687775TRPM6c.1968C>G (p.His656Gln)
c.1953C>G (p.His651Gln)
c.1875C>G (p.His625Gln)
c.1827C>G (p.His609Gln)
c.1734C>G (p.His578Gln)
c.1239C>G (p.His413Gln)
c.-96C>G (n.-96C>G)
n.2206C>G
9g.74801939G>TCA373687779TRPM6c.1968C>A (p.His656Gln)
c.1953C>A (p.His651Gln)
c.1875C>A (p.His625Gln)
c.1827C>A (p.His609Gln)
c.1734C>A (p.His578Gln)
c.1239C>A (p.His413Gln)
c.-96C>A (n.-96C>A)
n.2206C>A
9g.74801940T>ACA373687784TRPM6c.1967A>T (p.His656Leu)
c.1952A>T (p.His651Leu)
c.1874A>T (p.His625Leu)
c.1826A>T (p.His609Leu)
c.1733A>T (p.His578Leu)
c.1238A>T (p.His413Leu)
c.-97A>T (n.-97A>T)
n.2205A>T
9g.74801940T>CCA373687788TRPM6c.1967A>G (p.His656Arg)
c.1952A>G (p.His651Arg)
c.1874A>G (p.His625Arg)
c.1826A>G (p.His609Arg)
c.1733A>G (p.His578Arg)
c.1238A>G (p.His413Arg)
c.-97A>G (n.-97A>G)
n.2205A>G
9g.74801940T>GCA373687791TRPM6c.1967A>C (p.His656Pro)
c.1952A>C (p.His651Pro)
c.1874A>C (p.His625Pro)
c.1826A>C (p.His609Pro)
c.1733A>C (p.His578Pro)
c.1238A>C (p.His413Pro)
c.-97A>C (n.-97A>C)
n.2205A>C
9g.74801941G>ACA373687797TRPM6c.1966C>T (p.His656Tyr)
c.1951C>T (p.His651Tyr)
c.1873C>T (p.His625Tyr)
c.1825C>T (p.His609Tyr)
c.1732C>T (p.His578Tyr)
c.1237C>T (p.His413Tyr)
c.-98C>T (n.-98C>T)
n.2204C>T
9g.74801941G>CCA373687801TRPM6c.1966C>G (p.His656Asp)
c.1951C>G (p.His651Asp)
c.1873C>G (p.His625Asp)
c.1825C>G (p.His609Asp)
c.1732C>G (p.His578Asp)
c.1237C>G (p.His413Asp)
c.-98C>G (n.-98C>G)
n.2204C>G
9g.74801941G>TCA373687807TRPM6c.1966C>A (p.His656Asn)
c.1951C>A (p.His651Asn)
c.1873C>A (p.His625Asn)
c.1825C>A (p.His609Asn)
c.1732C>A (p.His578Asn)
c.1237C>A (p.His413Asn)
c.-98C>A (n.-98C>A)
n.2204C>A
9g.74801942A=CA1856045863TRPM6c.1965T= (p.Ser655=)
c.1950T= (p.Ser650=)
c.1872T= (p.Ser624=)
c.1824T= (p.Ser608=)
c.1731T= (p.Ser577=)
c.1236T= (p.Ser412=)
c.-99T= (n.-99T=)
n.2203T=
9g.74801942A>CCA373687810TRPM6c.1965T>G (p.Ser655Arg)
c.1950T>G (p.Ser650Arg)
c.1872T>G (p.Ser624Arg)
c.1824T>G (p.Ser608Arg)
c.1731T>G (p.Ser577Arg)
c.1236T>G (p.Ser412Arg)
c.-99T>G (n.-99T>G)
n.2203T>G
9g.74801942A>GCA465615384TRPM6c.1965T>C (p.Ser655=)
c.1950T>C (p.Ser650=)
c.1872T>C (p.Ser624=)
c.1824T>C (p.Ser608=)
c.1731T>C (p.Ser577=)
c.1236T>C (p.Ser412=)
c.-99T>C (n.-99T>C)
n.2203T>C
9g.74801942A>TCA373687812TRPM6c.1965T>A (p.Ser655Arg)
c.1950T>A (p.Ser650Arg)
c.1872T>A (p.Ser624Arg)
c.1824T>A (p.Ser608Arg)
c.1731T>A (p.Ser577Arg)
c.1236T>A (p.Ser412Arg)
c.-99T>A (n.-99T>A)
n.2203T>A
dbSNP
9g.74801943C>ACA373687817TRPM6c.1964G>T (p.Ser655Ile)
c.1949G>T (p.Ser650Ile)
c.1871G>T (p.Ser624Ile)
c.1823G>T (p.Ser608Ile)
c.1730G>T (p.Ser577Ile)
c.1235G>T (p.Ser412Ile)
c.-100G>T (n.-100G>T)
n.2202G>T
9g.74801943C=CA1856045864TRPM6c.1964G= (p.Ser655=)
c.1949G= (p.Ser650=)
c.1871G= (p.Ser624=)
c.1823G= (p.Ser608=)
c.1730G= (p.Ser577=)
c.1235G= (p.Ser412=)
c.-100G= (n.-100G=)
n.2202G=
9g.74801943C>GCA373687821TRPM6c.1964G>C (p.Ser655Thr)
c.1949G>C (p.Ser650Thr)
c.1871G>C (p.Ser624Thr)
c.1823G>C (p.Ser608Thr)
c.1730G>C (p.Ser577Thr)
c.1235G>C (p.Ser412Thr)
c.-100G>C (n.-100G>C)
n.2202G>C
9g.74801943C>TCA194305709TRPM6c.1964G>A (p.Ser655Asn)
c.1949G>A (p.Ser650Asn)
c.1871G>A (p.Ser624Asn)
c.1823G>A (p.Ser608Asn)
c.1730G>A (p.Ser577Asn)
c.1235G>A (p.Ser412Asn)
c.-100G>A (n.-100G>A)
n.2202G>A
dbSNP
9g.74801944T>ACA373687828TRPM6c.1963A>T (p.Ser655Cys)
c.1948A>T (p.Ser650Cys)
c.1870A>T (p.Ser624Cys)
c.1822A>T (p.Ser608Cys)
c.1729A>T (p.Ser577Cys)
c.1234A>T (p.Ser412Cys)
c.-101A>T (n.-101A>T)
n.2201A>T
9g.74801944T>CCA373687831TRPM6c.1963A>G (p.Ser655Gly)
c.1948A>G (p.Ser650Gly)
c.1870A>G (p.Ser624Gly)
c.1822A>G (p.Ser608Gly)
c.1729A>G (p.Ser577Gly)
c.1234A>G (p.Ser412Gly)
c.-101A>G (n.-101A>G)
n.2201A>G
9g.74801944T>GCA373687834TRPM6c.1963A>C (p.Ser655Arg)
c.1948A>C (p.Ser650Arg)
c.1870A>C (p.Ser624Arg)
c.1822A>C (p.Ser608Arg)
c.1729A>C (p.Ser577Arg)
c.1234A>C (p.Ser412Arg)
c.-101A>C (n.-101A>C)
n.2201A>C
9g.74801945C>ACA373687838TRPM6c.1962G>T (p.Glu654Asp)
c.1947G>T (p.Glu649Asp)
c.1869G>T (p.Glu623Asp)
c.1821G>T (p.Glu607Asp)
c.1728G>T (p.Glu576Asp)
c.1233G>T (p.Glu411Asp)
c.-102G>T (n.-102G>T)
n.2200G>T
9g.74801945C>GCA373687842TRPM6c.1962G>C (p.Glu654Asp)
c.1947G>C (p.Glu649Asp)
c.1869G>C (p.Glu623Asp)
c.1821G>C (p.Glu607Asp)
c.1728G>C (p.Glu576Asp)
c.1233G>C (p.Glu411Asp)
c.-102G>C (n.-102G>C)
n.2200G>C
9g.74801945C>TCA465615385TRPM6c.1962G>A (p.Glu654=)
c.1947G>A (p.Glu649=)
c.1869G>A (p.Glu623=)
c.1821G>A (p.Glu607=)
c.1728G>A (p.Glu576=)
c.1233G>A (p.Glu411=)
c.-102G>A (n.-102G>A)
n.2200G>A
9g.74801946T>ACA373687847TRPM6c.1961A>T (p.Glu654Val)
c.1946A>T (p.Glu649Val)
c.1868A>T (p.Glu623Val)
c.1820A>T (p.Glu607Val)
c.1727A>T (p.Glu576Val)
c.1232A>T (p.Glu411Val)
c.-103A>T (n.-103A>T)
n.2199A>T
9g.74801946T>CCA373687850TRPM6c.1961A>G (p.Glu654Gly)
c.1946A>G (p.Glu649Gly)
c.1868A>G (p.Glu623Gly)
c.1820A>G (p.Glu607Gly)
c.1727A>G (p.Glu576Gly)
c.1232A>G (p.Glu411Gly)
c.-103A>G (n.-103A>G)
n.2199A>G
9g.74801946T>GCA373687855TRPM6c.1961A>C (p.Glu654Ala)
c.1946A>C (p.Glu649Ala)
c.1868A>C (p.Glu623Ala)
c.1820A>C (p.Glu607Ala)
c.1727A>C (p.Glu576Ala)
c.1232A>C (p.Glu411Ala)
c.-103A>C (n.-103A>C)
n.2199A>C
9g.74801947C>ACA373687861TRPM6c.1960G>T (p.Glu654Ter)
c.1945G>T (p.Glu649Ter)
c.1867G>T (p.Glu623Ter)
c.1819G>T (p.Glu607Ter)
c.1726G>T (p.Glu576Ter)
c.1231G>T (p.Glu411Ter)
c.-104G>T (n.-104G>T)
n.2198G>T
9g.74801947C=CA1856045865TRPM6c.1960G= (p.Glu654=)
c.1945G= (p.Glu649=)
c.1867G= (p.Glu623=)
c.1819G= (p.Glu607=)
c.1726G= (p.Glu576=)
c.1231G= (p.Glu411=)
c.-104G= (n.-104G=)
n.2198G=
9g.74801947C>GCA373687871TRPM6c.1960G>C (p.Glu654Gln)
c.1945G>C (p.Glu649Gln)
c.1867G>C (p.Glu623Gln)
c.1819G>C (p.Glu607Gln)
c.1726G>C (p.Glu576Gln)
c.1231G>C (p.Glu411Gln)
c.-104G>C (n.-104G>C)
n.2198G>C
dbSNP gnomAD v4
9g.74801947C>TCA373687867TRPM6c.1960G>A (p.Glu654Lys)
c.1945G>A (p.Glu649Lys)
c.1867G>A (p.Glu623Lys)
c.1819G>A (p.Glu607Lys)
c.1726G>A (p.Glu576Lys)
c.1231G>A (p.Glu411Lys)
c.-104G>A (n.-104G>A)
n.2198G>A
9g.74801948C>ACA5084696TRPM6c.1959G>T (p.Lys653Asn)
c.1944G>T (p.Lys648Asn)
c.1866G>T (p.Lys622Asn)
c.1818G>T (p.Lys606Asn)
c.1725G>T (p.Lys575Asn)
c.1230G>T (p.Lys410Asn)
c.-105G>T (n.-105G>T)
n.2197G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74801948C=CA1856045866TRPM6c.1959G= (p.Lys653=)
c.1944G= (p.Lys648=)
c.1866G= (p.Lys622=)
c.1818G= (p.Lys606=)
c.1725G= (p.Lys575=)
c.1230G= (p.Lys410=)
c.-105G= (n.-105G=)
n.2197G=
9g.74801948C>GCA373687885TRPM6c.1959G>C (p.Lys653Asn)
c.1944G>C (p.Lys648Asn)
c.1866G>C (p.Lys622Asn)
c.1818G>C (p.Lys606Asn)
c.1725G>C (p.Lys575Asn)
c.1230G>C (p.Lys410Asn)
c.-105G>C (n.-105G>C)
n.2197G>C
9g.74801948C>TCA465615386TRPM6c.1959G>A (p.Lys653=)
c.1944G>A (p.Lys648=)
c.1866G>A (p.Lys622=)
c.1818G>A (p.Lys606=)
c.1725G>A (p.Lys575=)
c.1230G>A (p.Lys410=)
c.-105G>A (n.-105G>A)
n.2197G>A
dbSNP gnomAD v2 gnomAD v4
9g.74801949T>ACA373687889TRPM6c.1958A>T (p.Lys653Met)
c.1943A>T (p.Lys648Met)
c.1865A>T (p.Lys622Met)
c.1817A>T (p.Lys606Met)
c.1724A>T (p.Lys575Met)
c.1229A>T (p.Lys410Met)
c.-106A>T (n.-106A>T)
n.2196A>T
9g.74801949T>CCA373687893TRPM6c.1958A>G (p.Lys653Arg)
c.1943A>G (p.Lys648Arg)
c.1865A>G (p.Lys622Arg)
c.1817A>G (p.Lys606Arg)
c.1724A>G (p.Lys575Arg)
c.1229A>G (p.Lys410Arg)
c.-106A>G (n.-106A>G)
n.2196A>G
9g.74801949T>GCA373687897TRPM6c.1958A>C (p.Lys653Thr)
c.1943A>C (p.Lys648Thr)
c.1865A>C (p.Lys622Thr)
c.1817A>C (p.Lys606Thr)
c.1724A>C (p.Lys575Thr)
c.1229A>C (p.Lys410Thr)
c.-106A>C (n.-106A>C)
n.2196A>C
9g.74801950T>ACA373687902TRPM6c.1957A>T (p.Lys653Ter)
c.1942A>T (p.Lys648Ter)
c.1864A>T (p.Lys622Ter)
c.1816A>T (p.Lys606Ter)
c.1723A>T (p.Lys575Ter)
c.1228A>T (p.Lys410Ter)
c.-107A>T (n.-107A>T)
n.2195A>T
9g.74801950T>CCA373687906TRPM6c.1957A>G (p.Lys653Glu)
c.1942A>G (p.Lys648Glu)
c.1864A>G (p.Lys622Glu)
c.1816A>G (p.Lys606Glu)
c.1723A>G (p.Lys575Glu)
c.1228A>G (p.Lys410Glu)
c.-107A>G (n.-107A>G)
n.2195A>G
9g.74801950T>GCA373687909TRPM6c.1957A>C (p.Lys653Gln)
c.1942A>C (p.Lys648Gln)
c.1864A>C (p.Lys622Gln)
c.1816A>C (p.Lys606Gln)
c.1723A>C (p.Lys575Gln)
c.1228A>C (p.Lys410Gln)
c.-107A>C (n.-107A>C)
n.2195A>C
9g.74801951A>CCA465615387TRPM6c.1956T>G (p.Ala652=)
c.1941T>G (p.Ala647=)
c.1863T>G (p.Ala621=)
c.1815T>G (p.Ala605=)
c.1722T>G (p.Ala574=)
c.1227T>G (p.Ala409=)
c.-108T>G (n.-108T>G)
n.2194T>G
9g.74801951A>GCA465615388TRPM6c.1956T>C (p.Ala652=)
c.1941T>C (p.Ala647=)
c.1863T>C (p.Ala621=)
c.1815T>C (p.Ala605=)
c.1722T>C (p.Ala574=)
c.1227T>C (p.Ala409=)
c.-108T>C (n.-108T>C)
n.2194T>C
gnomAD v4
9g.74801951A>TCA465615389TRPM6c.1956T>A (p.Ala652=)
c.1941T>A (p.Ala647=)
c.1863T>A (p.Ala621=)
c.1815T>A (p.Ala605=)
c.1722T>A (p.Ala574=)
c.1227T>A (p.Ala409=)
c.-108T>A (n.-108T>A)
n.2194T>A
9g.74801952G>ACA373687915TRPM6c.1955C>T (p.Ala652Val)
c.1940C>T (p.Ala647Val)
c.1862C>T (p.Ala621Val)
c.1814C>T (p.Ala605Val)
c.1721C>T (p.Ala574Val)
c.1226C>T (p.Ala409Val)
c.-109C>T (n.-109C>T)
n.2193C>T
9g.74801952G>CCA373687919TRPM6c.1955C>G (p.Ala652Gly)
c.1940C>G (p.Ala647Gly)
c.1862C>G (p.Ala621Gly)
c.1814C>G (p.Ala605Gly)
c.1721C>G (p.Ala574Gly)
c.1226C>G (p.Ala409Gly)
c.-109C>G (n.-109C>G)
n.2193C>G
9g.74801952G>TCA373687922TRPM6c.1955C>A (p.Ala652Asp)
c.1940C>A (p.Ala647Asp)
c.1862C>A (p.Ala621Asp)
c.1814C>A (p.Ala605Asp)
c.1721C>A (p.Ala574Asp)
c.1226C>A (p.Ala409Asp)
c.-109C>A (n.-109C>A)
n.2193C>A
9g.74801953C>ACA373687927TRPM6c.1954G>T (p.Ala652Ser)
c.1939G>T (p.Ala647Ser)
c.1861G>T (p.Ala621Ser)
c.1813G>T (p.Ala605Ser)
c.1720G>T (p.Ala574Ser)
c.1225G>T (p.Ala409Ser)
c.-110G>T (n.-110G>T)
n.2192G>T
9g.74801953C=CA1856045867TRPM6c.1954G= (p.Ala652=)
c.1939G= (p.Ala647=)
c.1861G= (p.Ala621=)
c.1813G= (p.Ala605=)
c.1720G= (p.Ala574=)
c.1225G= (p.Ala409=)
c.-110G= (n.-110G=)
n.2192G=
9g.74801953C>GCA373687928TRPM6c.1954G>C (p.Ala652Pro)
c.1939G>C (p.Ala647Pro)
c.1861G>C (p.Ala621Pro)
c.1813G>C (p.Ala605Pro)
c.1720G>C (p.Ala574Pro)
c.1225G>C (p.Ala409Pro)
c.-110G>C (n.-110G>C)
n.2192G>C
9g.74801953C>TCA373687933TRPM6c.1954G>A (p.Ala652Thr)
c.1939G>A (p.Ala647Thr)
c.1861G>A (p.Ala621Thr)
c.1813G>A (p.Ala605Thr)
c.1720G>A (p.Ala574Thr)
c.1225G>A (p.Ala409Thr)
c.-110G>A (n.-110G>A)
n.2192G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.74801954T>ACA373687939TRPM6c.1953A>T (p.Glu651Asp)
c.1938A>T (p.Glu646Asp)
c.1860A>T (p.Glu620Asp)
c.1812A>T (p.Glu604Asp)
c.1719A>T (p.Glu573Asp)
c.1224A>T (p.Glu408Asp)
c.-111A>T (n.-111A>T)
n.2191A>T
9g.74801954T>CCA465615390TRPM6c.1953A>G (p.Glu651=)
c.1938A>G (p.Glu646=)
c.1860A>G (p.Glu620=)
c.1812A>G (p.Glu604=)
c.1719A>G (p.Glu573=)
c.1224A>G (p.Glu408=)
c.-111A>G (n.-111A>G)
n.2191A>G
9g.74801954T>GCA5084697TRPM6c.1953A>C (p.Glu651Asp)
c.1938A>C (p.Glu646Asp)
c.1860A>C (p.Glu620Asp)
c.1812A>C (p.Glu604Asp)
c.1719A>C (p.Glu573Asp)
c.1224A>C (p.Glu408Asp)
c.-111A>C (n.-111A>C)
n.2191A>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.74801954T=CA1856045868TRPM6c.1953A= (p.Glu651=)
c.1938A= (p.Glu646=)
c.1860A= (p.Glu620=)
c.1812A= (p.Glu604=)
c.1719A= (p.Glu573=)
c.1224A= (p.Glu408=)
c.-111A= (n.-111A=)
n.2191A=
9g.74801955T>ACA373687943TRPM6c.1952A>T (p.Glu651Val)
c.1937A>T (p.Glu646Val)
c.1859A>T (p.Glu620Val)
c.1811A>T (p.Glu604Val)
c.1718A>T (p.Glu573Val)
c.1223A>T (p.Glu408Val)
c.-112A>T (n.-112A>T)
n.2190A>T
9g.74801955T>CCA373687946TRPM6c.1952A>G (p.Glu651Gly)
c.1937A>G (p.Glu646Gly)
c.1859A>G (p.Glu620Gly)
c.1811A>G (p.Glu604Gly)
c.1718A>G (p.Glu573Gly)
c.1223A>G (p.Glu408Gly)
c.-112A>G (n.-112A>G)
n.2190A>G
9g.74801955T>GCA373687949TRPM6c.1952A>C (p.Glu651Ala)
c.1937A>C (p.Glu646Ala)
c.1859A>C (p.Glu620Ala)
c.1811A>C (p.Glu604Ala)
c.1718A>C (p.Glu573Ala)
c.1223A>C (p.Glu408Ala)
c.-112A>C (n.-112A>C)
n.2190A>C
gnomAD v4
9g.74801956C>ACA373687950TRPM6c.1951G>T (p.Glu651Ter)
c.1936G>T (p.Glu646Ter)
c.1858G>T (p.Glu620Ter)
c.1810G>T (p.Glu604Ter)
c.1717G>T (p.Glu573Ter)
c.1222G>T (p.Glu408Ter)
c.-113G>T (n.-113G>T)
n.2189G>T
9g.74801956C>GCA373687951TRPM6c.1951G>C (p.Glu651Gln)
c.1936G>C (p.Glu646Gln)
c.1858G>C (p.Glu620Gln)
c.1810G>C (p.Glu604Gln)
c.1717G>C (p.Glu573Gln)
c.1222G>C (p.Glu408Gln)
c.-113G>C (n.-113G>C)
n.2189G>C
9g.74801956C>TCA373687952TRPM6c.1951G>A (p.Glu651Lys)
c.1936G>A (p.Glu646Lys)
c.1858G>A (p.Glu620Lys)
c.1810G>A (p.Glu604Lys)
c.1717G>A (p.Glu573Lys)
c.1222G>A (p.Glu408Lys)
c.-113G>A (n.-113G>A)
n.2189G>A
9g.74801957A>CCA373687953TRPM6c.1950T>G (p.His650Gln)
c.1935T>G (p.His645Gln)
c.1857T>G (p.His619Gln)
c.1809T>G (p.His603Gln)
c.1716T>G (p.His572Gln)
c.1221T>G (p.His407Gln)
c.-114T>G (n.-114T>G)
n.2188T>G
gnomAD v4
9g.74801957A>GCA465615391TRPM6c.1950T>C (p.His650=)
c.1935T>C (p.His645=)
c.1857T>C (p.His619=)
c.1809T>C (p.His603=)
c.1716T>C (p.His572=)
c.1221T>C (p.His407=)
c.-114T>C (n.-114T>C)
n.2188T>C
9g.74801957A>TCA373687954TRPM6c.1950T>A (p.His650Gln)
c.1935T>A (p.His645Gln)
c.1857T>A (p.His619Gln)
c.1809T>A (p.His603Gln)
c.1716T>A (p.His572Gln)
c.1221T>A (p.His407Gln)
c.-114T>A (n.-114T>A)
n.2188T>A
9g.74801958T>ACA373687957TRPM6c.1949A>T (p.His650Leu)
c.1934A>T (p.His645Leu)
c.1856A>T (p.His619Leu)
c.1808A>T (p.His603Leu)
c.1715A>T (p.His572Leu)
c.1220A>T (p.His407Leu)
c.-115A>T (n.-115A>T)
n.2187A>T
dbSNP
9g.74801958T>CCA194305723TRPM6c.1949A>G (p.His650Arg)
c.1934A>G (p.His645Arg)
c.1856A>G (p.His619Arg)
c.1808A>G (p.His603Arg)
c.1715A>G (p.His572Arg)
c.1220A>G (p.His407Arg)
c.-115A>G (n.-115A>G)
n.2187A>G
dbSNP
9g.74801958T>GCA373687961TRPM6c.1949A>C (p.His650Pro)
c.1934A>C (p.His645Pro)
c.1856A>C (p.His619Pro)
c.1808A>C (p.His603Pro)
c.1715A>C (p.His572Pro)
c.1220A>C (p.His407Pro)
c.-115A>C (n.-115A>C)
n.2187A>C
9g.74801958T=CA1856045869TRPM6c.1949A= (p.His650=)
c.1934A= (p.His645=)
c.1856A= (p.His619=)
c.1808A= (p.His603=)
c.1715A= (p.His572=)
c.1220A= (p.His407=)
c.-115A= (n.-115A=)
n.2187A=
9g.74801959G>ACA373687968TRPM6c.1948C>T (p.His650Tyr)
c.1933C>T (p.His645Tyr)
c.1855C>T (p.His619Tyr)
c.1807C>T (p.His603Tyr)
c.1714C>T (p.His572Tyr)
c.1219C>T (p.His407Tyr)
c.-116C>T (n.-116C>T)
n.2186C>T
gnomAD v4
9g.74801959G>CCA373687971TRPM6c.1948C>G (p.His650Asp)
c.1933C>G (p.His645Asp)
c.1855C>G (p.His619Asp)
c.1807C>G (p.His603Asp)
c.1714C>G (p.His572Asp)
c.1219C>G (p.His407Asp)
c.-116C>G (n.-116C>G)
n.2186C>G
dbSNP gnomAD v2 gnomAD v4
9g.74801959G=CA1856045870TRPM6c.1948C= (p.His650=)
c.1933C= (p.His645=)
c.1855C= (p.His619=)
c.1807C= (p.His603=)
c.1714C= (p.His572=)
c.1219C= (p.His407=)
c.-116C= (n.-116C=)
n.2186C=
9g.74801959G>TCA373687965TRPM6c.1948C>A (p.His650Asn)
c.1933C>A (p.His645Asn)
c.1855C>A (p.His619Asn)
c.1807C>A (p.His603Asn)
c.1714C>A (p.His572Asn)
c.1219C>A (p.His407Asn)
c.-116C>A (n.-116C>A)
n.2186C>A
9g.74801961delCA2690310996TRPM6c.1948del (p.His650MetfsTer16)
c.1933del (p.His645MetfsTer16)
c.1855del (p.His619MetfsTer16)
c.1807del (p.His603MetfsTer16)
c.1714del (p.His572MetfsTer16)
c.1219del (p.His407MetfsTer16)
c.-116del (n.-116del)
n.2186del
gnomAD v4
9g.74801960G>ACA465615392TRPM6c.1947C>T (p.Ala649=)
c.1932C>T (p.Ala644=)
c.1854C>T (p.Ala618=)
c.1806C>T (p.Ala602=)
c.1713C>T (p.Ala571=)
c.1218C>T (p.Ala406=)
c.-117C>T (n.-117C>T)
n.2185C>T
dbSNP gnomAD v3 gnomAD v4
9g.74801960G>CCA465615394TRPM6c.1947C>G (p.Ala649=)
c.1932C>G (p.Ala644=)
c.1854C>G (p.Ala618=)
c.1806C>G (p.Ala602=)
c.1713C>G (p.Ala571=)
c.1218C>G (p.Ala406=)
c.-117C>G (n.-117C>G)
n.2185C>G
9g.74801960G=CA1856045871TRPM6c.1947C= (p.Ala649=)
c.1932C= (p.Ala644=)
c.1854C= (p.Ala618=)
c.1806C= (p.Ala602=)
c.1713C= (p.Ala571=)
c.1218C= (p.Ala406=)
c.-117C= (n.-117C=)
n.2185C=
9g.74801960G>TCA465615393TRPM6c.1947C>A (p.Ala649=)
c.1932C>A (p.Ala644=)
c.1854C>A (p.Ala618=)
c.1806C>A (p.Ala602=)
c.1713C>A (p.Ala571=)
c.1218C>A (p.Ala406=)
c.-117C>A (n.-117C>A)
n.2185C>A
dbSNP gnomAD v2 gnomAD v4
9g.74801961G>ACA373687974TRPM6c.1946C>T (p.Ala649Val)
c.1931C>T (p.Ala644Val)
c.1853C>T (p.Ala618Val)
c.1805C>T (p.Ala602Val)
c.1712C>T (p.Ala571Val)
c.1217C>T (p.Ala406Val)
c.-118C>T (n.-118C>T)
n.2184C>T
gnomAD v4
9g.74801961G>CCA373687978TRPM6c.1946C>G (p.Ala649Gly)
c.1931C>G (p.Ala644Gly)
c.1853C>G (p.Ala618Gly)
c.1805C>G (p.Ala602Gly)
c.1712C>G (p.Ala571Gly)
c.1217C>G (p.Ala406Gly)
c.-118C>G (n.-118C>G)
n.2184C>G
dbSNP
9g.74801961G=CA1856045872TRPM6c.1946C= (p.Ala649=)
c.1931C= (p.Ala644=)
c.1853C= (p.Ala618=)
c.1805C= (p.Ala602=)
c.1712C= (p.Ala571=)
c.1217C= (p.Ala406=)
c.-118C= (n.-118C=)
n.2184C=
9g.74801961G>TCA373687981TRPM6c.1946C>A (p.Ala649Asp)
c.1931C>A (p.Ala644Asp)
c.1853C>A (p.Ala618Asp)
c.1805C>A (p.Ala602Asp)
c.1712C>A (p.Ala571Asp)
c.1217C>A (p.Ala406Asp)
c.-118C>A (n.-118C>A)
n.2184C>A
9g.74801962C>ACA373687988TRPM6c.1945G>T (p.Ala649Ser)
c.1930G>T (p.Ala644Ser)
c.1852G>T (p.Ala618Ser)
c.1804G>T (p.Ala602Ser)
c.1711G>T (p.Ala571Ser)
c.1216G>T (p.Ala406Ser)
c.-119G>T (n.-119G>T)
n.2183G>T
COSMIC COSMIC COSMIC COSMIC
9g.74801962C>GCA373687990TRPM6c.1945G>C (p.Ala649Pro)
c.1930G>C (p.Ala644Pro)
c.1852G>C (p.Ala618Pro)
c.1804G>C (p.Ala602Pro)
c.1711G>C (p.Ala571Pro)
c.1216G>C (p.Ala406Pro)
c.-119G>C (n.-119G>C)
n.2183G>C
9g.74801962C>TCA373687994TRPM6c.1945G>A (p.Ala649Thr)
c.1930G>A (p.Ala644Thr)
c.1852G>A (p.Ala618Thr)
c.1804G>A (p.Ala602Thr)
c.1711G>A (p.Ala571Thr)
c.1216G>A (p.Ala406Thr)
c.-119G>A (n.-119G>A)
n.2183G>A
9g.74801963C>ACA373687999TRPM6c.1944G>T (p.Met648Ile)
c.1929G>T (p.Met643Ile)
c.1851G>T (p.Met617Ile)
c.1803G>T (p.Met601Ile)
c.1710G>T (p.Met570Ile)
c.1215G>T (p.Met405Ile)
c.-120G>T (n.-120G>T)
n.2182G>T
9g.74801963C>GCA373688001TRPM6c.1944G>C (p.Met648Ile)
c.1929G>C (p.Met643Ile)
c.1851G>C (p.Met617Ile)
c.1803G>C (p.Met601Ile)
c.1710G>C (p.Met570Ile)
c.1215G>C (p.Met405Ile)
c.-120G>C (n.-120G>C)
n.2182G>C
9g.74801963C>TCA373688003TRPM6c.1944G>A (p.Met648Ile)
c.1929G>A (p.Met643Ile)
c.1851G>A (p.Met617Ile)
c.1803G>A (p.Met601Ile)
c.1710G>A (p.Met570Ile)
c.1215G>A (p.Met405Ile)
c.-120G>A (n.-120G>A)
n.2182G>A
COSMIC COSMIC COSMIC
9g.74801964A>CCA373688006TRPM6c.1943T>G (p.Met648Arg)
c.1928T>G (p.Met643Arg)
c.1850T>G (p.Met617Arg)
c.1802T>G (p.Met601Arg)
c.1709T>G (p.Met570Arg)
c.1214T>G (p.Met405Arg)
c.-121T>G (n.-121T>G)
n.2181T>G
9g.74801964A>GCA373688009TRPM6c.1943T>C (p.Met648Thr)
c.1928T>C (p.Met643Thr)
c.1850T>C (p.Met617Thr)
c.1802T>C (p.Met601Thr)
c.1709T>C (p.Met570Thr)
c.1214T>C (p.Met405Thr)
c.-121T>C (n.-121T>C)
n.2181T>C
9g.74801964A>TCA373688013TRPM6c.1943T>A (p.Met648Lys)
c.1928T>A (p.Met643Lys)
c.1850T>A (p.Met617Lys)
c.1802T>A (p.Met601Lys)
c.1709T>A (p.Met570Lys)
c.1214T>A (p.Met405Lys)
c.-121T>A (n.-121T>A)
n.2181T>A
9g.74801965T>ACA373688024TRPM6c.1942A>T (p.Met648Leu)
c.1927A>T (p.Met643Leu)
c.1849A>T (p.Met617Leu)
c.1801A>T (p.Met601Leu)
c.1708A>T (p.Met570Leu)
c.1213A>T (p.Met405Leu)
c.-122A>T (n.-122A>T)
n.2180A>T
9g.74801965T>CCA373688018TRPM6c.1942A>G (p.Met648Val)
c.1927A>G (p.Met643Val)
c.1849A>G (p.Met617Val)
c.1801A>G (p.Met601Val)
c.1708A>G (p.Met570Val)
c.1213A>G (p.Met405Val)
c.-122A>G (n.-122A>G)
n.2180A>G
gnomAD v4
9g.74801965T>GCA373688021TRPM6c.1942A>C (p.Met648Leu)
c.1927A>C (p.Met643Leu)
c.1849A>C (p.Met617Leu)
c.1801A>C (p.Met601Leu)
c.1708A>C (p.Met570Leu)
c.1213A>C (p.Met405Leu)
c.-122A>C (n.-122A>C)
n.2180A>C
9g.74801966T>ACA465615395TRPM6c.1941A>T (p.Ala647=)
c.1926A>T (p.Ala642=)
c.1848A>T (p.Ala616=)
c.1800A>T (p.Ala600=)
c.1707A>T (p.Ala569=)
c.1212A>T (p.Ala404=)
c.-123A>T (n.-123A>T)
n.2179A>T
9g.74801966T>CCA465615397TRPM6c.1941A>G (p.Ala647=)
c.1926A>G (p.Ala642=)
c.1848A>G (p.Ala616=)
c.1800A>G (p.Ala600=)
c.1707A>G (p.Ala569=)
c.1212A>G (p.Ala404=)
c.-123A>G (n.-123A>G)
n.2179A>G
9g.74801966T>GCA465615396TRPM6c.1941A>C (p.Ala647=)
c.1926A>C (p.Ala642=)
c.1848A>C (p.Ala616=)
c.1800A>C (p.Ala600=)
c.1707A>C (p.Ala569=)
c.1212A>C (p.Ala404=)
c.-123A>C (n.-123A>C)
n.2179A>C
9g.74801967G>ACA373688029TRPM6c.1940C>T (p.Ala647Val)
c.1925C>T (p.Ala642Val)
c.1847C>T (p.Ala616Val)
c.1799C>T (p.Ala600Val)
c.1706C>T (p.Ala569Val)
c.1211C>T (p.Ala404Val)
c.-124C>T (n.-124C>T)
n.2178C>T
9g.74801967G>CCA373688032TRPM6c.1940C>G (p.Ala647Gly)
c.1925C>G (p.Ala642Gly)
c.1847C>G (p.Ala616Gly)
c.1799C>G (p.Ala600Gly)
c.1706C>G (p.Ala569Gly)
c.1211C>G (p.Ala404Gly)
c.-124C>G (n.-124C>G)
n.2178C>G
9g.74801967G>TCA373688035TRPM6c.1940C>A (p.Ala647Glu)
c.1925C>A (p.Ala642Glu)
c.1847C>A (p.Ala616Glu)
c.1799C>A (p.Ala600Glu)
c.1706C>A (p.Ala569Glu)
c.1211C>A (p.Ala404Glu)
c.-124C>A (n.-124C>A)
n.2178C>A
9g.74801968C>ACA373688040TRPM6c.1939G>T (p.Ala647Ser)
c.1924G>T (p.Ala642Ser)
c.1846G>T (p.Ala616Ser)
c.1798G>T (p.Ala600Ser)
c.1705G>T (p.Ala569Ser)
c.1210G>T (p.Ala404Ser)
c.-125G>T (n.-125G>T)
n.2177G>T
dbSNP
9g.74801968C=CA1856045873TRPM6c.1939G= (p.Ala647=)
c.1924G= (p.Ala642=)
c.1846G= (p.Ala616=)
c.1798G= (p.Ala600=)
c.1705G= (p.Ala569=)
c.1210G= (p.Ala404=)
c.-125G= (n.-125G=)
n.2177G=
9g.74801968C>GCA373688042TRPM6c.1939G>C (p.Ala647Pro)
c.1924G>C (p.Ala642Pro)
c.1846G>C (p.Ala616Pro)
c.1798G>C (p.Ala600Pro)
c.1705G>C (p.Ala569Pro)
c.1210G>C (p.Ala404Pro)
c.-125G>C (n.-125G>C)
n.2177G>C
9g.74801968C>TCA373688046TRPM6c.1939G>A (p.Ala647Thr)
c.1924G>A (p.Ala642Thr)
c.1846G>A (p.Ala616Thr)
c.1798G>A (p.Ala600Thr)
c.1705G>A (p.Ala569Thr)
c.1210G>A (p.Ala404Thr)
c.-125G>A (n.-125G>A)
n.2177G>A
9g.74801969C>ACA465615398TRPM6c.1938G>T (p.Arg646=)
c.1923G>T (p.Arg641=)
c.1845G>T (p.Arg615=)
c.1797G>T (p.Arg599=)
c.1704G>T (p.Arg568=)
c.1209G>T (p.Arg403=)
c.-126G>T (n.-126G>T)
n.2176G>T
9g.74801969C=CA1856045874TRPM6c.1938G= (p.Arg646=)
c.1923G= (p.Arg641=)
c.1845G= (p.Arg615=)
c.1797G= (p.Arg599=)
c.1704G= (p.Arg568=)
c.1209G= (p.Arg403=)
c.-126G= (n.-126G=)
n.2176G=
9g.74801969C>GCA465615399TRPM6c.1938G>C (p.Arg646=)
c.1923G>C (p.Arg641=)
c.1845G>C (p.Arg615=)
c.1797G>C (p.Arg599=)
c.1704G>C (p.Arg568=)
c.1209G>C (p.Arg403=)
c.-126G>C (n.-126G>C)
n.2176G>C
9g.74801969C>TCA465615400TRPM6c.1938G>A (p.Arg646=)
c.1923G>A (p.Arg641=)
c.1845G>A (p.Arg615=)
c.1797G>A (p.Arg599=)
c.1704G>A (p.Arg568=)
c.1209G>A (p.Arg403=)
c.-126G>A (n.-126G>A)
n.2176G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.74801970C>ACA373688049TRPM6c.1937G>T (p.Arg646Leu)
c.1922G>T (p.Arg641Leu)
c.1844G>T (p.Arg615Leu)
c.1796G>T (p.Arg599Leu)
c.1703G>T (p.Arg568Leu)
c.1208G>T (p.Arg403Leu)
c.-127G>T (n.-127G>T)
n.2175G>T
9g.74801970C=CA1856045875TRPM6c.1937G= (p.Arg646=)
c.1922G= (p.Arg641=)
c.1844G= (p.Arg615=)
c.1796G= (p.Arg599=)
c.1703G= (p.Arg568=)
c.1208G= (p.Arg403=)
c.-127G= (n.-127G=)
n.2175G=
9g.74801970C>GCA373688051TRPM6c.1937G>C (p.Arg646Pro)
c.1922G>C (p.Arg641Pro)
c.1844G>C (p.Arg615Pro)
c.1796G>C (p.Arg599Pro)
c.1703G>C (p.Arg568Pro)
c.1208G>C (p.Arg403Pro)
c.-127G>C (n.-127G>C)
n.2175G>C
9g.74801970C>TCA373688053TRPM6c.1937G>A (p.Arg646Gln)
c.1922G>A (p.Arg641Gln)
c.1844G>A (p.Arg615Gln)
c.1796G>A (p.Arg599Gln)
c.1703G>A (p.Arg568Gln)
c.1208G>A (p.Arg403Gln)
c.-127G>A (n.-127G>A)
n.2175G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.74801971G>ACA373688057TRPM6c.1936C>T (p.Arg646Trp)
c.1921C>T (p.Arg641Trp)
c.1843C>T (p.Arg615Trp)
c.1795C>T (p.Arg599Trp)
c.1702C>T (p.Arg568Trp)
c.1207C>T (p.Arg403Trp)
c.-128C>T (n.-128C>T)
n.2174C>T
dbSNP gnomAD v2 gnomAD v4
9g.74801971G>CCA373688059TRPM6c.1936C>G (p.Arg646Gly)
c.1921C>G (p.Arg641Gly)
c.1843C>G (p.Arg615Gly)
c.1795C>G (p.Arg599Gly)
c.1702C>G (p.Arg568Gly)
c.1207C>G (p.Arg403Gly)
c.-128C>G (n.-128C>G)
n.2174C>G
9g.74801971G=CA1856045876TRPM6c.1936C= (p.Arg646=)
c.1921C= (p.Arg641=)
c.1843C= (p.Arg615=)
c.1795C= (p.Arg599=)
c.1702C= (p.Arg568=)
c.1207C= (p.Arg403=)
c.-128C= (n.-128C=)
n.2174C=
9g.74801971G>TCA465615401TRPM6c.1936C>A (p.Arg646=)
c.1921C>A (p.Arg641=)
c.1843C>A (p.Arg615=)
c.1795C>A (p.Arg599=)
c.1702C>A (p.Arg568=)
c.1207C>A (p.Arg403=)
c.-128C>A (n.-128C>A)
n.2174C>A
dbSNP gnomAD v2
9g.74801972G>ACA465615402TRPM6c.1935C>T (p.Tyr645=)
c.1920C>T (p.Tyr640=)
c.1842C>T (p.Tyr614=)
c.1794C>T (p.Tyr598=)
c.1701C>T (p.Tyr567=)
c.1206C>T (p.Tyr402=)
c.-129C>T (n.-129C>T)
n.2173C>T
gnomAD v4 COSMIC COSMIC COSMIC
9g.74801972G>CCA373688065TRPM6c.1935C>G (p.Tyr645Ter)
c.1920C>G (p.Tyr640Ter)
c.1842C>G (p.Tyr614Ter)
c.1794C>G (p.Tyr598Ter)
c.1701C>G (p.Tyr567Ter)
c.1206C>G (p.Tyr402Ter)
c.-129C>G (n.-129C>G)
n.2173C>G
9g.74801972G>TCA373688068TRPM6c.1935C>A (p.Tyr645Ter)
c.1920C>A (p.Tyr640Ter)
c.1842C>A (p.Tyr614Ter)
c.1794C>A (p.Tyr598Ter)
c.1701C>A (p.Tyr567Ter)
c.1206C>A (p.Tyr402Ter)
c.-129C>A (n.-129C>A)
n.2173C>A
9g.74801973T>ACA373688075TRPM6c.1934A>T (p.Tyr645Phe)
c.1919A>T (p.Tyr640Phe)
c.1841A>T (p.Tyr614Phe)
c.1793A>T (p.Tyr598Phe)
c.1700A>T (p.Tyr567Phe)
c.1205A>T (p.Tyr402Phe)
c.-130A>T (n.-130A>T)
n.2172A>T
9g.74801973T>CCA373688078TRPM6c.1934A>G (p.Tyr645Cys)
c.1919A>G (p.Tyr640Cys)
c.1841A>G (p.Tyr614Cys)
c.1793A>G (p.Tyr598Cys)
c.1700A>G (p.Tyr567Cys)
c.1205A>G (p.Tyr402Cys)
c.-130A>G (n.-130A>G)
n.2172A>G
gnomAD v4
9g.74801973T>GCA5084698TRPM6c.1934A>C (p.Tyr645Ser)
c.1919A>C (p.Tyr640Ser)
c.1841A>C (p.Tyr614Ser)
c.1793A>C (p.Tyr598Ser)
c.1700A>C (p.Tyr567Ser)
c.1205A>C (p.Tyr402Ser)
c.-130A>C (n.-130A>C)
n.2172A>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.74801973T=CA1856045877TRPM6c.1934A= (p.Tyr645=)
c.1919A= (p.Tyr640=)
c.1841A= (p.Tyr614=)
c.1793A= (p.Tyr598=)
c.1700A= (p.Tyr567=)
c.1205A= (p.Tyr402=)
c.-130A= (n.-130A=)
n.2172A=
9g.74801974A>CCA373688089TRPM6c.1933T>G (p.Tyr645Asp)
c.1918T>G (p.Tyr640Asp)
c.1840T>G (p.Tyr614Asp)
c.1792T>G (p.Tyr598Asp)
c.1699T>G (p.Tyr567Asp)
c.1204T>G (p.Tyr402Asp)
c.-131T>G (n.-131T>G)
n.2171T>G
9g.74801974A>GCA373688082TRPM6c.1933T>C (p.Tyr645His)
c.1918T>C (p.Tyr640His)
c.1840T>C (p.Tyr614His)
c.1792T>C (p.Tyr598His)
c.1699T>C (p.Tyr567His)
c.1204T>C (p.Tyr402His)
c.-131T>C (n.-131T>C)
n.2171T>C
9g.74801974A>TCA373688085TRPM6c.1933T>A (p.Tyr645Asn)
c.1918T>A (p.Tyr640Asn)
c.1840T>A (p.Tyr614Asn)
c.1792T>A (p.Tyr598Asn)
c.1699T>A (p.Tyr567Asn)
c.1204T>A (p.Tyr402Asn)
c.-131T>A (n.-131T>A)
n.2171T>A
9g.74801975G>ACA465615403TRPM6c.1932C>T (p.Leu644=)
c.1917C>T (p.Leu639=)
c.1839C>T (p.Leu613=)
c.1791C>T (p.Leu597=)
c.1698C>T (p.Leu566=)
c.1203C>T (p.Leu401=)
c.-132C>T (n.-132C>T)
n.2170C>T
9g.74801975G>CCA465615404TRPM6c.1932C>G (p.Leu644=)
c.1917C>G (p.Leu639=)
c.1839C>G (p.Leu613=)
c.1791C>G (p.Leu597=)
c.1698C>G (p.Leu566=)
c.1203C>G (p.Leu401=)
c.-132C>G (n.-132C>G)
n.2170C>G
gnomAD v4
9g.74801975G>TCA465615405TRPM6c.1932C>A (p.Leu644=)
c.1917C>A (p.Leu639=)
c.1839C>A (p.Leu613=)
c.1791C>A (p.Leu597=)
c.1698C>A (p.Leu566=)
c.1203C>A (p.Leu401=)
c.-132C>A (n.-132C>A)
n.2170C>A
9g.74801976A>CCA373688093TRPM6c.1931T>G (p.Leu644Arg)
c.1916T>G (p.Leu639Arg)
c.1838T>G (p.Leu613Arg)
c.1790T>G (p.Leu597Arg)
c.1697T>G (p.Leu566Arg)
c.1202T>G (p.Leu401Arg)
c.-133T>G (n.-133T>G)
n.2169T>G
9g.74801976A>GCA373688095TRPM6c.1931T>C (p.Leu644Pro)
c.1916T>C (p.Leu639Pro)
c.1838T>C (p.Leu613Pro)
c.1790T>C (p.Leu597Pro)
c.1697T>C (p.Leu566Pro)
c.1202T>C (p.Leu401Pro)
c.-133T>C (n.-133T>C)
n.2169T>C
9g.74801976A>TCA373688098TRPM6c.1931T>A (p.Leu644His)
c.1916T>A (p.Leu639His)
c.1838T>A (p.Leu613His)
c.1790T>A (p.Leu597His)
c.1697T>A (p.Leu566His)
c.1202T>A (p.Leu401His)
c.-133T>A (n.-133T>A)
n.2169T>A
9g.74801977G>ACA373688102TRPM6c.1930C>T (p.Leu644Phe)
c.1915C>T (p.Leu639Phe)
c.1837C>T (p.Leu613Phe)
c.1789C>T (p.Leu597Phe)
c.1696C>T (p.Leu566Phe)
c.1201C>T (p.Leu401Phe)
c.-134C>T (n.-134C>T)
n.2168C>T
dbSNP COSMIC COSMIC COSMIC
9g.74801977G>CCA373688105TRPM6c.1930C>G (p.Leu644Val)
c.1915C>G (p.Leu639Val)
c.1837C>G (p.Leu613Val)
c.1789C>G (p.Leu597Val)
c.1696C>G (p.Leu566Val)
c.1201C>G (p.Leu401Val)
c.-134C>G (n.-134C>G)
n.2168C>G
9g.74801977G=CA1856045878TRPM6c.1930C= (p.Leu644=)
c.1915C= (p.Leu639=)
c.1837C= (p.Leu613=)
c.1789C= (p.Leu597=)
c.1696C= (p.Leu566=)
c.1201C= (p.Leu401=)
c.-134C= (n.-134C=)
n.2168C=
9g.74801977G>TCA373688108TRPM6c.1930C>A (p.Leu644Ile)
c.1915C>A (p.Leu639Ile)
c.1837C>A (p.Leu613Ile)
c.1789C>A (p.Leu597Ile)
c.1696C>A (p.Leu566Ile)
c.1201C>A (p.Leu401Ile)
c.-134C>A (n.-134C>A)
n.2168C>A
COSMIC COSMIC COSMIC COSMIC
9g.74801978G>ACA465615406TRPM6c.1929C>T (p.Ile643=)
c.1914C>T (p.Ile638=)
c.1836C>T (p.Ile612=)
c.1788C>T (p.Ile596=)
c.1695C>T (p.Ile565=)
c.1200C>T (p.Ile400=)
c.-135C>T (n.-135C>T)
n.2167C>T
dbSNP gnomAD v2
9g.74801978G>CCA5084699TRPM6c.1929C>G (p.Ile643Met)
c.1914C>G (p.Ile638Met)
c.1836C>G (p.Ile612Met)
c.1788C>G (p.Ile596Met)
c.1695C>G (p.Ile565Met)
c.1200C>G (p.Ile400Met)
c.-135C>G (n.-135C>G)
n.2167C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74801978G=CA1856045879TRPM6c.1929C= (p.Ile643=)
c.1914C= (p.Ile638=)
c.1836C= (p.Ile612=)
c.1788C= (p.Ile596=)
c.1695C= (p.Ile565=)
c.1200C= (p.Ile400=)
c.-135C= (n.-135C=)
n.2167C=
9g.74801978G>TCA5084700TRPM6c.1929C>A (p.Ile643=)
c.1914C>A (p.Ile638=)
c.1836C>A (p.Ile612=)
c.1788C>A (p.Ile596=)
c.1695C>A (p.Ile565=)
c.1200C>A (p.Ile400=)
c.-135C>A (n.-135C>A)
n.2167C>A
dbSNP ExAC gnomAD v2
9g.74801979A=CA1856045880TRPM6c.1928T= (p.Ile643=)
c.1913T= (p.Ile638=)
c.1835T= (p.Ile612=)
c.1787T= (p.Ile596=)
c.1694T= (p.Ile565=)
c.1199T= (p.Ile400=)
c.-136T= (n.-136T=)
n.2166T=
9g.74801979A>CCA373688118TRPM6c.1928T>G (p.Ile643Ser)
c.1913T>G (p.Ile638Ser)
c.1835T>G (p.Ile612Ser)
c.1787T>G (p.Ile596Ser)
c.1694T>G (p.Ile565Ser)
c.1199T>G (p.Ile400Ser)
c.-136T>G (n.-136T>G)
n.2166T>G
9g.74801979A>GCA373688121TRPM6c.1928T>C (p.Ile643Thr)
c.1913T>C (p.Ile638Thr)
c.1835T>C (p.Ile612Thr)
c.1787T>C (p.Ile596Thr)
c.1694T>C (p.Ile565Thr)
c.1199T>C (p.Ile400Thr)
c.-136T>C (n.-136T>C)
n.2166T>C
dbSNP gnomAD v4
9g.74801979A>TCA373688124TRPM6c.1928T>A (p.Ile643Asn)
c.1913T>A (p.Ile638Asn)
c.1835T>A (p.Ile612Asn)
c.1787T>A (p.Ile596Asn)
c.1694T>A (p.Ile565Asn)
c.1199T>A (p.Ile400Asn)
c.-136T>A (n.-136T>A)
n.2166T>A
9g.74801980T>ACA373688135TRPM6c.1927A>T (p.Ile643Phe)
c.1912A>T (p.Ile638Phe)
c.1834A>T (p.Ile612Phe)
c.1786A>T (p.Ile596Phe)
c.1693A>T (p.Ile565Phe)
c.1198A>T (p.Ile400Phe)
c.-137A>T (n.-137A>T)
n.2165A>T
9g.74801980T>CCA373688130TRPM6c.1927A>G (p.Ile643Val)
c.1912A>G (p.Ile638Val)
c.1834A>G (p.Ile612Val)
c.1786A>G (p.Ile596Val)
c.1693A>G (p.Ile565Val)
c.1198A>G (p.Ile400Val)
c.-137A>G (n.-137A>G)
n.2165A>G
dbSNP gnomAD v3 gnomAD v4
9g.74801980T>GCA373688133TRPM6c.1927A>C (p.Ile643Leu)
c.1912A>C (p.Ile638Leu)
c.1834A>C (p.Ile612Leu)
c.1786A>C (p.Ile596Leu)
c.1693A>C (p.Ile565Leu)
c.1198A>C (p.Ile400Leu)
c.-137A>C (n.-137A>C)
n.2165A>C
9g.74801980T=CA1856045881TRPM6c.1927A= (p.Ile643=)
c.1912A= (p.Ile638=)
c.1834A= (p.Ile612=)
c.1786A= (p.Ile596=)
c.1693A= (p.Ile565=)
c.1198A= (p.Ile400=)
c.-137A= (n.-137A=)
n.2165A=
9g.74801981A>CCA373688141TRPM6c.1926T>G (p.Cys642Trp)
c.1911T>G (p.Cys637Trp)
c.1833T>G (p.Cys611Trp)
c.1785T>G (p.Cys595Trp)
c.1692T>G (p.Cys564Trp)
c.1197T>G (p.Cys399Trp)
c.-138T>G (n.-138T>G)
n.2164T>G
9g.74801981A>GCA465615407TRPM6c.1926T>C (p.Cys642=)
c.1911T>C (p.Cys637=)
c.1833T>C (p.Cys611=)
c.1785T>C (p.Cys595=)
c.1692T>C (p.Cys564=)
c.1197T>C (p.Cys399=)
c.-138T>C (n.-138T>C)
n.2164T>C
9g.74801981A>TCA373688144TRPM6c.1926T>A (p.Cys642Ter)
c.1911T>A (p.Cys637Ter)
c.1833T>A (p.Cys611Ter)
c.1785T>A (p.Cys595Ter)
c.1692T>A (p.Cys564Ter)
c.1197T>A (p.Cys399Ter)
c.-138T>A (n.-138T>A)
n.2164T>A
9g.74801982C>ACA373688149TRPM6c.1925G>T (p.Cys642Phe)
c.1910G>T (p.Cys637Phe)
c.1832G>T (p.Cys611Phe)
c.1784G>T (p.Cys595Phe)
c.1691G>T (p.Cys564Phe)
c.1196G>T (p.Cys399Phe)
c.-139G>T (n.-139G>T)
n.2163G>T
9g.74801982C=CA1856045882TRPM6c.1925G= (p.Cys642=)
c.1910G= (p.Cys637=)
c.1832G= (p.Cys611=)
c.1784G= (p.Cys595=)
c.1691G= (p.Cys564=)
c.1196G= (p.Cys399=)
c.-139G= (n.-139G=)
n.2163G=
9g.74801982C>GCA373688152TRPM6c.1925G>C (p.Cys642Ser)
c.1910G>C (p.Cys637Ser)
c.1832G>C (p.Cys611Ser)
c.1784G>C (p.Cys595Ser)
c.1691G>C (p.Cys564Ser)
c.1196G>C (p.Cys399Ser)
c.-139G>C (n.-139G>C)
n.2163G>C
9g.74801982C>TCA373688156TRPM6c.1925G>A (p.Cys642Tyr)
c.1910G>A (p.Cys637Tyr)
c.1832G>A (p.Cys611Tyr)
c.1784G>A (p.Cys595Tyr)
c.1691G>A (p.Cys564Tyr)
c.1196G>A (p.Cys399Tyr)
c.-139G>A (n.-139G>A)
n.2163G>A
dbSNP
9g.74801983A>CCA373688160TRPM6c.1924T>G (p.Cys642Gly)
c.1909T>G (p.Cys637Gly)
c.1831T>G (p.Cys611Gly)
c.1783T>G (p.Cys595Gly)
c.1690T>G (p.Cys564Gly)
c.1195T>G (p.Cys399Gly)
c.-140T>G (n.-140T>G)
n.2162T>G
9g.74801983A>GCA373688162TRPM6c.1924T>C (p.Cys642Arg)
c.1909T>C (p.Cys637Arg)
c.1831T>C (p.Cys611Arg)
c.1783T>C (p.Cys595Arg)
c.1690T>C (p.Cys564Arg)
c.1195T>C (p.Cys399Arg)
c.-140T>C (n.-140T>C)
n.2162T>C
9g.74801983A>TCA373688166TRPM6c.1924T>A (p.Cys642Ser)
c.1909T>A (p.Cys637Ser)
c.1831T>A (p.Cys611Ser)
c.1783T>A (p.Cys595Ser)
c.1690T>A (p.Cys564Ser)
c.1195T>A (p.Cys399Ser)
c.-140T>A (n.-140T>A)
n.2162T>A
9g.74801984C>ACA465615408TRPM6c.1923G>T (p.Ala641=)
c.1908G>T (p.Ala636=)
c.1830G>T (p.Ala610=)
c.1782G>T (p.Ala594=)
c.1689G>T (p.Ala563=)
c.1194G>T (p.Ala398=)
c.-141G>T (n.-141G>T)
n.2161G>T
9g.74801984C=CA1856045883TRPM6c.1923G= (p.Ala641=)
c.1908G= (p.Ala636=)
c.1830G= (p.Ala610=)
c.1782G= (p.Ala594=)
c.1689G= (p.Ala563=)
c.1194G= (p.Ala398=)
c.-141G= (n.-141G=)
n.2161G=
9g.74801984C>GCA465615409TRPM6c.1923G>C (p.Ala641=)
c.1908G>C (p.Ala636=)
c.1830G>C (p.Ala610=)
c.1782G>C (p.Ala594=)
c.1689G>C (p.Ala563=)
c.1194G>C (p.Ala398=)
c.-141G>C (n.-141G>C)
n.2161G>C
9g.74801984C>TCA5084701TRPM6c.1923G>A (p.Ala641=)
c.1908G>A (p.Ala636=)
c.1830G>A (p.Ala610=)
c.1782G>A (p.Ala594=)
c.1689G>A (p.Ala563=)
c.1194G>A (p.Ala398=)
c.-141G>A (n.-141G>A)
n.2161G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74801985G>ACA373688175TRPM6c.1922C>T (p.Ala641Val)
c.1907C>T (p.Ala636Val)
c.1829C>T (p.Ala610Val)
c.1781C>T (p.Ala594Val)
c.1688C>T (p.Ala563Val)
c.1193C>T (p.Ala398Val)
c.-142C>T (n.-142C>T)
n.2160C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.74801985G>CCA373688178TRPM6c.1922C>G (p.Ala641Gly)
c.1907C>G (p.Ala636Gly)
c.1829C>G (p.Ala610Gly)
c.1781C>G (p.Ala594Gly)
c.1688C>G (p.Ala563Gly)
c.1193C>G (p.Ala398Gly)
c.-142C>G (n.-142C>G)
n.2160C>G
gnomAD v4
9g.74801985G=CA1856045884TRPM6c.1922C= (p.Ala641=)
c.1907C= (p.Ala636=)
c.1829C= (p.Ala610=)
c.1781C= (p.Ala594=)
c.1688C= (p.Ala563=)
c.1193C= (p.Ala398=)
c.-142C= (n.-142C=)
n.2160C=
9g.74801985G>TCA373688182TRPM6c.1922C>A (p.Ala641Glu)
c.1907C>A (p.Ala636Glu)
c.1829C>A (p.Ala610Glu)
c.1781C>A (p.Ala594Glu)
c.1688C>A (p.Ala563Glu)
c.1193C>A (p.Ala398Glu)
c.-142C>A (n.-142C>A)
n.2160C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.74801986C>ACA373688193TRPM6c.1921G>T (p.Ala641Ser)
c.1906G>T (p.Ala636Ser)
c.1828G>T (p.Ala610Ser)
c.1780G>T (p.Ala594Ser)
c.1687G>T (p.Ala563Ser)
c.1192G>T (p.Ala398Ser)
c.-143G>T (n.-143G>T)
n.2159G>T
9g.74801986C>GCA373688190TRPM6c.1921G>C (p.Ala641Pro)
c.1906G>C (p.Ala636Pro)
c.1828G>C (p.Ala610Pro)
c.1780G>C (p.Ala594Pro)
c.1687G>C (p.Ala563Pro)
c.1192G>C (p.Ala398Pro)
c.-143G>C (n.-143G>C)
n.2159G>C
9g.74801986C>TCA373688186TRPM6c.1921G>A (p.Ala641Thr)
c.1906G>A (p.Ala636Thr)
c.1828G>A (p.Ala610Thr)
c.1780G>A (p.Ala594Thr)
c.1687G>A (p.Ala563Thr)
c.1192G>A (p.Ala398Thr)
c.-143G>A (n.-143G>A)
n.2159G>A
9g.74801987A>CCA373688198TRPM6c.1920T>G (p.Ile640Met)
c.1905T>G (p.Ile635Met)
c.1827T>G (p.Ile609Met)
c.1779T>G (p.Ile593Met)
c.1686T>G (p.Ile562Met)
c.1191T>G (p.Ile397Met)
n.2158T>G
9g.74801987A>GCA465615411TRPM6c.1920T>C (p.Ile640=)
c.1905T>C (p.Ile635=)
c.1827T>C (p.Ile609=)
c.1779T>C (p.Ile593=)
c.1686T>C (p.Ile562=)
c.1191T>C (p.Ile397=)
n.2158T>C
gnomAD v4
9g.74801987A>TCA465615410TRPM6c.1920T>A (p.Ile640=)
c.1905T>A (p.Ile635=)
c.1827T>A (p.Ile609=)
c.1779T>A (p.Ile593=)
c.1686T>A (p.Ile562=)
c.1191T>A (p.Ile397=)
n.2158T>A
9g.74801988A>CCA373688202TRPM6c.1919T>G (p.Ile640Ser)
c.1904T>G (p.Ile635Ser)
c.1826T>G (p.Ile609Ser)
c.1778T>G (p.Ile593Ser)
c.1685T>G (p.Ile562Ser)
c.1190T>G (p.Ile397Ser)
n.2157T>G
9g.74801988A>GCA373688204TRPM6c.1919T>C (p.Ile640Thr)
c.1904T>C (p.Ile635Thr)
c.1826T>C (p.Ile609Thr)
c.1778T>C (p.Ile593Thr)
c.1685T>C (p.Ile562Thr)
c.1190T>C (p.Ile397Thr)
n.2157T>C
9g.74801988A>TCA373688208TRPM6c.1919T>A (p.Ile640Asn)
c.1904T>A (p.Ile635Asn)
c.1826T>A (p.Ile609Asn)
c.1778T>A (p.Ile593Asn)
c.1685T>A (p.Ile562Asn)
c.1190T>A (p.Ile397Asn)
n.2157T>A
9g.74801989T>ACA373688214TRPM6c.1918A>T (p.Ile640Phe)
c.1903A>T (p.Ile635Phe)
c.1825A>T (p.Ile609Phe)
c.1777A>T (p.Ile593Phe)
c.1684A>T (p.Ile562Phe)
c.1189A>T (p.Ile397Phe)
n.2156A>T
9g.74801989T>CCA373688215TRPM6c.1918A>G (p.Ile640Val)
c.1903A>G (p.Ile635Val)
c.1825A>G (p.Ile609Val)
c.1777A>G (p.Ile593Val)
c.1684A>G (p.Ile562Val)
c.1189A>G (p.Ile397Val)
n.2156A>G
9g.74801989T>GCA373688218TRPM6c.1918A>C (p.Ile640Leu)
c.1903A>C (p.Ile635Leu)
c.1825A>C (p.Ile609Leu)
c.1777A>C (p.Ile593Leu)
c.1684A>C (p.Ile562Leu)
c.1189A>C (p.Ile397Leu)
n.2156A>C
9g.74801990C>ACA465615412TRPM6c.1917G>T (p.Val639=)
c.1902G>T (p.Val634=)
c.1824G>T (p.Val608=)
c.1776G>T (p.Val592=)
c.1683G>T (p.Val561=)
c.1188G>T (p.Val396=)
n.2155G>T
9g.74801990C>GCA465615413TRPM6c.1917G>C (p.Val639=)
c.1902G>C (p.Val634=)
c.1824G>C (p.Val608=)
c.1776G>C (p.Val592=)
c.1683G>C (p.Val561=)
c.1188G>C (p.Val396=)
n.2155G>C
9g.74801990C>TCA465615414TRPM6c.1917G>A (p.Val639=)
c.1902G>A (p.Val634=)
c.1824G>A (p.Val608=)
c.1776G>A (p.Val592=)
c.1683G>A (p.Val561=)
c.1188G>A (p.Val396=)
n.2155G>A
9g.74801991A>CCA373688224TRPM6c.1916T>G (p.Val639Gly)
c.1901T>G (p.Val634Gly)
c.1823T>G (p.Val608Gly)
c.1775T>G (p.Val592Gly)
c.1682T>G (p.Val561Gly)
c.1187T>G (p.Val396Gly)
n.2154T>G
9g.74801991A>GCA373688226TRPM6c.1916T>C (p.Val639Ala)
c.1901T>C (p.Val634Ala)
c.1823T>C (p.Val608Ala)
c.1775T>C (p.Val592Ala)
c.1682T>C (p.Val561Ala)
c.1187T>C (p.Val396Ala)
n.2154T>C
9g.74801991A>TCA373688229TRPM6c.1916T>A (p.Val639Glu)
c.1901T>A (p.Val634Glu)
c.1823T>A (p.Val608Glu)
c.1775T>A (p.Val592Glu)
c.1682T>A (p.Val561Glu)
c.1187T>A (p.Val396Glu)
n.2154T>A
9g.74801992C>ACA373688233TRPM6c.1915G>T (p.Val639Leu)
c.1900G>T (p.Val634Leu)
c.1822G>T (p.Val608Leu)
c.1774G>T (p.Val592Leu)
c.1681G>T (p.Val561Leu)
c.1186G>T (p.Val396Leu)
n.2153G>T
9g.74801992C=CA1856045885TRPM6c.1915G= (p.Val639=)
c.1900G= (p.Val634=)
c.1822G= (p.Val608=)
c.1774G= (p.Val592=)
c.1681G= (p.Val561=)
c.1186G= (p.Val396=)
n.2153G=
9g.74801992C>GCA373688236TRPM6c.1915G>C (p.Val639Leu)
c.1900G>C (p.Val634Leu)
c.1822G>C (p.Val608Leu)
c.1774G>C (p.Val592Leu)
c.1681G>C (p.Val561Leu)
c.1186G>C (p.Val396Leu)
n.2153G>C
9g.74801992C>TCA5084702TRPM6c.1915G>A (p.Val639Met)
c.1900G>A (p.Val634Met)
c.1822G>A (p.Val608Met)
c.1774G>A (p.Val592Met)
c.1681G>A (p.Val561Met)
c.1186G>A (p.Val396Met)
n.2153G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
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
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

Number of alleles fetched