Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.74801890A=CA1856045844TRPM6c.2009+8T= (n.2009+8T=)
c.1994+8T= (n.1994+8T=)
c.1916+8T= (n.1916+8T=)
c.1868+8T= (n.1868+8T=)
c.1775+8T= (n.1775+8T=)
c.1280+8T= (n.1280+8T=)
c.-55+8T= (n.-55+8T=)
n.2247+8T=
9g.74801890A>TCA5084685TRPM6c.2009+8T>A (n.2009+8T>A)
c.1994+8T>A (n.1994+8T>A)
c.1916+8T>A (n.1916+8T>A)
c.1868+8T>A (n.1868+8T>A)
c.1775+8T>A (n.1775+8T>A)
c.1280+8T>A (n.1280+8T>A)
c.-55+8T>A (n.-55+8T>A)
n.2247+8T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.74801891C=CA1856045845TRPM6c.2009+7G= (n.2009+7G=)
c.1994+7G= (n.1994+7G=)
c.1916+7G= (n.1916+7G=)
c.1868+7G= (n.1868+7G=)
c.1775+7G= (n.1775+7G=)
c.1280+7G= (n.1280+7G=)
c.-55+7G= (n.-55+7G=)
n.2247+7G=
9g.74801891C>GCA194305664TRPM6c.2009+7G>C (n.2009+7G>C)
c.1994+7G>C (n.1994+7G>C)
c.1916+7G>C (n.1916+7G>C)
c.1868+7G>C (n.1868+7G>C)
c.1775+7G>C (n.1775+7G>C)
c.1280+7G>C (n.1280+7G>C)
c.-55+7G>C (n.-55+7G>C)
n.2247+7G>C
 dbSNP gnomAD v4
9g.74801891C>TCA5084686TRPM6c.2009+7G>A (n.2009+7G>A)
c.1994+7G>A (n.1994+7G>A)
c.1916+7G>A (n.1916+7G>A)
c.1868+7G>A (n.1868+7G>A)
c.1775+7G>A (n.1775+7G>A)
c.1280+7G>A (n.1280+7G>A)
c.-55+7G>A (n.-55+7G>A)
n.2247+7G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.74801892A>GCA2579355867TRPM6c.2009+6T>C (n.2009+6T>C)
c.1994+6T>C (n.1994+6T>C)
c.1916+6T>C (n.1916+6T>C)
c.1868+6T>C (n.1868+6T>C)
c.1775+6T>C (n.1775+6T>C)
c.1280+6T>C (n.1280+6T>C)
c.-55+6T>C (n.-55+6T>C)
n.2247+6T>C
 gnomAD v4
9g.74801893C=CA1856045846TRPM6c.2009+5G= (n.2009+5G=)
c.1994+5G= (n.1994+5G=)
c.1916+5G= (n.1916+5G=)
c.1868+5G= (n.1868+5G=)
c.1775+5G= (n.1775+5G=)
c.1280+5G= (n.1280+5G=)
c.-55+5G= (n.-55+5G=)
n.2247+5G=
9g.74801893C>TCA5084687TRPM6c.2009+5G>A (n.2009+5G>A)
c.1994+5G>A (n.1994+5G>A)
c.1916+5G>A (n.1916+5G>A)
c.1868+5G>A (n.1868+5G>A)
c.1775+5G>A (n.1775+5G>A)
c.1280+5G>A (n.1280+5G>A)
c.-55+5G>A (n.-55+5G>A)
n.2247+5G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74801895T>ACA2690310993TRPM6c.2009+3A>T (n.2009+3A>T)
c.1994+3A>T (n.1994+3A>T)
c.1916+3A>T (n.1916+3A>T)
c.1868+3A>T (n.1868+3A>T)
c.1775+3A>T (n.1775+3A>T)
c.1280+3A>T (n.1280+3A>T)
c.-55+3A>T (n.-55+3A>T)
n.2247+3A>T
 gnomAD v4
9g.74801895T>CCA5084688TRPM6c.2009+3A>G (n.2009+3A>G)
c.1994+3A>G (n.1994+3A>G)
c.1916+3A>G (n.1916+3A>G)
c.1868+3A>G (n.1868+3A>G)
c.1775+3A>G (n.1775+3A>G)
c.1280+3A>G (n.1280+3A>G)
c.-55+3A>G (n.-55+3A>G)
n.2247+3A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74801895T=CA1856045847TRPM6c.2009+3A= (n.2009+3A=)
c.1994+3A= (n.1994+3A=)
c.1916+3A= (n.1916+3A=)
c.1868+3A= (n.1868+3A=)
c.1775+3A= (n.1775+3A=)
c.1280+3A= (n.1280+3A=)
c.-55+3A= (n.-55+3A=)
n.2247+3A=
9g.74801896A>CCA373687289TRPM6c.2009+2T>G (n.2009+2T>G)
c.1994+2T>G (n.1994+2T>G)
c.1916+2T>G (n.1916+2T>G)
c.1868+2T>G (n.1868+2T>G)
c.1775+2T>G (n.1775+2T>G)
c.1280+2T>G (n.1280+2T>G)
c.-55+2T>G (n.-55+2T>G)
n.2247+2T>G
9g.74801896A>GCA373687294TRPM6c.2009+2T>C (n.2009+2T>C)
c.1994+2T>C (n.1994+2T>C)
c.1916+2T>C (n.1916+2T>C)
c.1868+2T>C (n.1868+2T>C)
c.1775+2T>C (n.1775+2T>C)
c.1280+2T>C (n.1280+2T>C)
c.-55+2T>C (n.-55+2T>C)
n.2247+2T>C
 gnomAD v4
9g.74801896A>TCA373687291TRPM6c.2009+2T>A (n.2009+2T>A)
c.1994+2T>A (n.1994+2T>A)
c.1916+2T>A (n.1916+2T>A)
c.1868+2T>A (n.1868+2T>A)
c.1775+2T>A (n.1775+2T>A)
c.1280+2T>A (n.1280+2T>A)
c.-55+2T>A (n.-55+2T>A)
n.2247+2T>A
9g.74801897C>ACA373687298TRPM6c.2009+1G>T (n.2009+1G>T)
c.1994+1G>T (n.1994+1G>T)
c.1916+1G>T (n.1916+1G>T)
c.1868+1G>T (n.1868+1G>T)
c.1775+1G>T (n.1775+1G>T)
c.1280+1G>T (n.1280+1G>T)
c.-55+1G>T (n.-55+1G>T)
n.2247+1G>T
9g.74801897C=CA1856045848TRPM6c.2009+1G= (n.2009+1G=)
c.1994+1G= (n.1994+1G=)
c.1916+1G= (n.1916+1G=)
c.1868+1G= (n.1868+1G=)
c.1775+1G= (n.1775+1G=)
c.1280+1G= (n.1280+1G=)
c.-55+1G= (n.-55+1G=)
n.2247+1G=
9g.74801897C>GCA373687308TRPM6c.2009+1G>C (n.2009+1G>C)
c.1994+1G>C (n.1994+1G>C)
c.1916+1G>C (n.1916+1G>C)
c.1868+1G>C (n.1868+1G>C)
c.1775+1G>C (n.1775+1G>C)
c.1280+1G>C (n.1280+1G>C)
c.-55+1G>C (n.-55+1G>C)
n.2247+1G>C
 gnomAD v4
9g.74801897C>TCA373687300TRPM6c.2009+1G>A (n.2009+1G>A)
c.1994+1G>A (n.1994+1G>A)
c.1916+1G>A (n.1916+1G>A)
c.1868+1G>A (n.1868+1G>A)
c.1775+1G>A (n.1775+1G>A)
c.1280+1G>A (n.1280+1G>A)
c.-55+1G>A (n.-55+1G>A)
n.2247+1G>A
 ClinVar dbSNP
9g.74801898T>ACA373687312TRPM6c.2009A>T (p.Lys670Ile)
c.1994A>T (p.Lys665Ile)
c.1916A>T (p.Lys639Ile)
c.1868A>T (p.Lys623Ile)
c.1775A>T (p.Lys592Ile)
c.1280A>T (p.Lys427Ile)
c.-55A>T (n.-55A>T)
n.2247A>T
9g.74801898T>CCA373687315TRPM6c.2009A>G (p.Lys670Arg)
c.1994A>G (p.Lys665Arg)
c.1916A>G (p.Lys639Arg)
c.1868A>G (p.Lys623Arg)
c.1775A>G (p.Lys592Arg)
c.1280A>G (p.Lys427Arg)
c.-55A>G (n.-55A>G)
n.2247A>G
9g.74801898T>GCA373687318TRPM6c.2009A>C (p.Lys670Thr)
c.1994A>C (p.Lys665Thr)
c.1916A>C (p.Lys639Thr)
c.1868A>C (p.Lys623Thr)
c.1775A>C (p.Lys592Thr)
c.1280A>C (p.Lys427Thr)
c.-55A>C (n.-55A>C)
n.2247A>C
9g.74801899T>ACA373687322TRPM6c.2008A>T (p.Lys670Ter)
c.1993A>T (p.Lys665Ter)
c.1915A>T (p.Lys639Ter)
c.1867A>T (p.Lys623Ter)
c.1774A>T (p.Lys592Ter)
c.1279A>T (p.Lys427Ter)
c.-56A>T (n.-56A>T)
n.2246A>T
9g.74801899T>CCA373687326TRPM6c.2008A>G (p.Lys670Glu)
c.1993A>G (p.Lys665Glu)
c.1915A>G (p.Lys639Glu)
c.1867A>G (p.Lys623Glu)
c.1774A>G (p.Lys592Glu)
c.1279A>G (p.Lys427Glu)
c.-56A>G (n.-56A>G)
n.2246A>G
9g.74801899T>GCA373687330TRPM6c.2008A>C (p.Lys670Gln)
c.1993A>C (p.Lys665Gln)
c.1915A>C (p.Lys639Gln)
c.1867A>C (p.Lys623Gln)
c.1774A>C (p.Lys592Gln)
c.1279A>C (p.Lys427Gln)
c.-56A>C (n.-56A>C)
n.2246A>C
9g.74801899_74801900insCAGAACA2690310994TRPM6c.2007_2008insTTCTG (p.Lys670PhefsTer2)
c.1992_1993insTTCTG (p.Lys665PhefsTer2)
c.1914_1915insTTCTG (p.Lys639PhefsTer2)
c.1866_1867insTTCTG (p.Lys623PhefsTer2)
c.1773_1774insTTCTG (p.Lys592PhefsTer2)
c.1278_1279insTTCTG (p.Lys427PhefsTer2)
c.-57_-56insTTCTG (n.-57_-56insTTCTG)
n.2245_2246insTTCTG
 gnomAD v4
9g.74801900T>ACA465615365TRPM6c.2007A>T (p.Ser669=)
c.1992A>T (p.Ser664=)
c.1914A>T (p.Ser638=)
c.1866A>T (p.Ser622=)
c.1773A>T (p.Ser591=)
c.1278A>T (p.Ser426=)
c.-57A>T (n.-57A>T)
n.2245A>T
9g.74801900T>CCA465615366TRPM6c.2007A>G (p.Ser669=)
c.1992A>G (p.Ser664=)
c.1914A>G (p.Ser638=)
c.1866A>G (p.Ser622=)
c.1773A>G (p.Ser591=)
c.1278A>G (p.Ser426=)
c.-57A>G (n.-57A>G)
n.2245A>G
9g.74801900T>GCA465615367TRPM6c.2007A>C (p.Ser669=)
c.1992A>C (p.Ser664=)
c.1914A>C (p.Ser638=)
c.1866A>C (p.Ser622=)
c.1773A>C (p.Ser591=)
c.1278A>C (p.Ser426=)
c.-57A>C (n.-57A>C)
n.2245A>C
9g.74801900_74801901insTACTCAGAACA2690310995TRPM6c.2006_2007insTTCTGAGTA (p.Ser670SerfsTer3)
c.1991_1992insTTCTGAGTA (p.Ser665SerfsTer3)
c.1913_1914insTTCTGAGTA (p.Ser639SerfsTer3)
c.1865_1866insTTCTGAGTA (p.Ser623SerfsTer3)
c.1772_1773insTTCTGAGTA (p.Ser592SerfsTer3)
c.1277_1278insTTCTGAGTA (p.Ser427SerfsTer3)
c.-58_-57insTTCTGAGTA (n.-58_-57insTTCTGAGTA)
n.2244_2245insTTCTGAGTA
 gnomAD v4
9g.74801901G>ACA373687333TRPM6c.2006C>T (p.Ser669Leu)
c.1991C>T (p.Ser664Leu)
c.1913C>T (p.Ser638Leu)
c.1865C>T (p.Ser622Leu)
c.1772C>T (p.Ser591Leu)
c.1277C>T (p.Ser426Leu)
c.-58C>T (n.-58C>T)
n.2244C>T
9g.74801901G>CCA373687334TRPM6c.2006C>G (p.Ser669Ter)
c.1991C>G (p.Ser664Ter)
c.1913C>G (p.Ser638Ter)
c.1865C>G (p.Ser622Ter)
c.1772C>G (p.Ser591Ter)
c.1277C>G (p.Ser426Ter)
c.-58C>G (n.-58C>G)
n.2244C>G
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
9g.74801901G=CA1856045849TRPM6c.2006C= (p.Ser669=)
c.1991C= (p.Ser664=)
c.1913C= (p.Ser638=)
c.1865C= (p.Ser622=)
c.1772C= (p.Ser591=)
c.1277C= (p.Ser426=)
c.-58C= (n.-58C=)
n.2244C=
9g.74801901G>TCA373687337TRPM6c.2006C>A (p.Ser669Ter)
c.1991C>A (p.Ser664Ter)
c.1913C>A (p.Ser638Ter)
c.1865C>A (p.Ser622Ter)
c.1772C>A (p.Ser591Ter)
c.1277C>A (p.Ser426Ter)
c.-58C>A (n.-58C>A)
n.2244C>A
9g.74801902A>CCA373687340TRPM6c.2005T>G (p.Ser669Ala)
c.1990T>G (p.Ser664Ala)
c.1912T>G (p.Ser638Ala)
c.1864T>G (p.Ser622Ala)
c.1771T>G (p.Ser591Ala)
c.1276T>G (p.Ser426Ala)
c.-59T>G (n.-59T>G)
n.2243T>G
9g.74801902A>GCA373687345TRPM6c.2005T>C (p.Ser669Pro)
c.1990T>C (p.Ser664Pro)
c.1912T>C (p.Ser638Pro)
c.1864T>C (p.Ser622Pro)
c.1771T>C (p.Ser591Pro)
c.1276T>C (p.Ser426Pro)
c.-59T>C (n.-59T>C)
n.2243T>C
9g.74801902A>TCA373687348TRPM6c.2005T>A (p.Ser669Thr)
c.1990T>A (p.Ser664Thr)
c.1912T>A (p.Ser638Thr)
c.1864T>A (p.Ser622Thr)
c.1771T>A (p.Ser591Thr)
c.1276T>A (p.Ser426Thr)
c.-59T>A (n.-59T>A)
n.2243T>A
9g.74801903G>ACA465615368TRPM6c.2004C>T (p.Tyr668=)
c.1989C>T (p.Tyr663=)
c.1911C>T (p.Tyr637=)
c.1863C>T (p.Tyr621=)
c.1770C>T (p.Tyr590=)
c.1275C>T (p.Tyr425=)
c.-60C>T (n.-60C>T)
n.2242C>T
9g.74801903G>CCA373687350TRPM6c.2004C>G (p.Tyr668Ter)
c.1989C>G (p.Tyr663Ter)
c.1911C>G (p.Tyr637Ter)
c.1863C>G (p.Tyr621Ter)
c.1770C>G (p.Tyr590Ter)
c.1275C>G (p.Tyr425Ter)
c.-60C>G (n.-60C>G)
n.2242C>G
9g.74801903G>TCA373687353TRPM6c.2004C>A (p.Tyr668Ter)
c.1989C>A (p.Tyr663Ter)
c.1911C>A (p.Tyr637Ter)
c.1863C>A (p.Tyr621Ter)
c.1770C>A (p.Tyr590Ter)
c.1275C>A (p.Tyr425Ter)
c.-60C>A (n.-60C>A)
n.2242C>A
9g.74801904T>ACA373687356TRPM6c.2003A>T (p.Tyr668Phe)
c.1988A>T (p.Tyr663Phe)
c.1910A>T (p.Tyr637Phe)
c.1862A>T (p.Tyr621Phe)
c.1769A>T (p.Tyr590Phe)
c.1274A>T (p.Tyr425Phe)
c.-61A>T (n.-61A>T)
n.2241A>T
9g.74801904T>CCA373687359TRPM6c.2003A>G (p.Tyr668Cys)
c.1988A>G (p.Tyr663Cys)
c.1910A>G (p.Tyr637Cys)
c.1862A>G (p.Tyr621Cys)
c.1769A>G (p.Tyr590Cys)
c.1274A>G (p.Tyr425Cys)
c.-61A>G (n.-61A>G)
n.2241A>G
 COSMIC COSMIC COSMIC
9g.74801904T>GCA373687362TRPM6c.2003A>C (p.Tyr668Ser)
c.1988A>C (p.Tyr663Ser)
c.1910A>C (p.Tyr637Ser)
c.1862A>C (p.Tyr621Ser)
c.1769A>C (p.Tyr590Ser)
c.1274A>C (p.Tyr425Ser)
c.-61A>C (n.-61A>C)
n.2241A>C
9g.74801905A>CCA373687367TRPM6c.2002T>G (p.Tyr668Asp)
c.1987T>G (p.Tyr663Asp)
c.1909T>G (p.Tyr637Asp)
c.1861T>G (p.Tyr621Asp)
c.1768T>G (p.Tyr590Asp)
c.1273T>G (p.Tyr425Asp)
c.-62T>G (n.-62T>G)
n.2240T>G
9g.74801905A>GCA373687370TRPM6c.2002T>C (p.Tyr668His)
c.1987T>C (p.Tyr663His)
c.1909T>C (p.Tyr637His)
c.1861T>C (p.Tyr621His)
c.1768T>C (p.Tyr590His)
c.1273T>C (p.Tyr425His)
c.-62T>C (n.-62T>C)
n.2240T>C
 gnomAD v4
9g.74801905A>TCA373687372TRPM6c.2002T>A (p.Tyr668Asn)
c.1987T>A (p.Tyr663Asn)
c.1909T>A (p.Tyr637Asn)
c.1861T>A (p.Tyr621Asn)
c.1768T>A (p.Tyr590Asn)
c.1273T>A (p.Tyr425Asn)
c.-62T>A (n.-62T>A)
n.2240T>A
9g.74801906A>CCA373687376TRPM6c.2001T>G (p.Asn667Lys)
c.1986T>G (p.Asn662Lys)
c.1908T>G (p.Asn636Lys)
c.1860T>G (p.Asn620Lys)
c.1767T>G (p.Asn589Lys)
c.1272T>G (p.Asn424Lys)
c.-63T>G (n.-63T>G)
n.2239T>G
9g.74801906A>GCA465615369TRPM6c.2001T>C (p.Asn667=)
c.1986T>C (p.Asn662=)
c.1908T>C (p.Asn636=)
c.1860T>C (p.Asn620=)
c.1767T>C (p.Asn589=)
c.1272T>C (p.Asn424=)
c.-63T>C (n.-63T>C)
n.2239T>C
9g.74801906A>TCA373687379TRPM6c.2001T>A (p.Asn667Lys)
c.1986T>A (p.Asn662Lys)
c.1908T>A (p.Asn636Lys)
c.1860T>A (p.Asn620Lys)
c.1767T>A (p.Asn589Lys)
c.1272T>A (p.Asn424Lys)
c.-63T>A (n.-63T>A)
n.2239T>A
9g.74801907T>ACA373687381TRPM6c.2000A>T (p.Asn667Ile)
c.1985A>T (p.Asn662Ile)
c.1907A>T (p.Asn636Ile)
c.1859A>T (p.Asn620Ile)
c.1766A>T (p.Asn589Ile)
c.1271A>T (p.Asn424Ile)
c.-64A>T (n.-64A>T)
n.2238A>T
9g.74801907T>CCA373687383TRPM6c.2000A>G (p.Asn667Ser)
c.1985A>G (p.Asn662Ser)
c.1907A>G (p.Asn636Ser)
c.1859A>G (p.Asn620Ser)
c.1766A>G (p.Asn589Ser)
c.1271A>G (p.Asn424Ser)
c.-64A>G (n.-64A>G)
n.2238A>G
9g.74801907T>GCA373687386TRPM6c.2000A>C (p.Asn667Thr)
c.1985A>C (p.Asn662Thr)
c.1907A>C (p.Asn636Thr)
c.1859A>C (p.Asn620Thr)
c.1766A>C (p.Asn589Thr)
c.1271A>C (p.Asn424Thr)
c.-64A>C (n.-64A>C)
n.2238A>C
9g.74801908T>ACA5084689TRPM6c.1999A>T (p.Asn667Tyr)
c.1984A>T (p.Asn662Tyr)
c.1906A>T (p.Asn636Tyr)
c.1858A>T (p.Asn620Tyr)
c.1765A>T (p.Asn589Tyr)
c.1270A>T (p.Asn424Tyr)
c.-65A>T (n.-65A>T)
n.2237A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.74801908T>CCA373687393TRPM6c.1999A>G (p.Asn667Asp)
c.1984A>G (p.Asn662Asp)
c.1906A>G (p.Asn636Asp)
c.1858A>G (p.Asn620Asp)
c.1765A>G (p.Asn589Asp)
c.1270A>G (p.Asn424Asp)
c.-65A>G (n.-65A>G)
n.2237A>G
9g.74801908T>GCA373687390TRPM6c.1999A>C (p.Asn667His)
c.1984A>C (p.Asn662His)
c.1906A>C (p.Asn636His)
c.1858A>C (p.Asn620His)
c.1765A>C (p.Asn589His)
c.1270A>C (p.Asn424His)
c.-65A>C (n.-65A>C)
n.2237A>C
9g.74801908T=CA1856045850TRPM6c.1999A= (p.Asn667=)
c.1984A= (p.Asn662=)
c.1906A= (p.Asn636=)
c.1858A= (p.Asn620=)
c.1765A= (p.Asn589=)
c.1270A= (p.Asn424=)
c.-65A= (n.-65A=)
n.2237A=
9g.74801909C>ACA373687402TRPM6c.1998G>T (p.Lys666Asn)
c.1983G>T (p.Lys661Asn)
c.1905G>T (p.Lys635Asn)
c.1857G>T (p.Lys619Asn)
c.1764G>T (p.Lys588Asn)
c.1269G>T (p.Lys423Asn)
c.-66G>T (n.-66G>T)
n.2236G>T
9g.74801909C=CA1856045851TRPM6c.1998G= (p.Lys666=)
c.1983G= (p.Lys661=)
c.1905G= (p.Lys635=)
c.1857G= (p.Lys619=)
c.1764G= (p.Lys588=)
c.1269G= (p.Lys423=)
c.-66G= (n.-66G=)
n.2236G=
9g.74801909C>GCA373687404TRPM6c.1998G>C (p.Lys666Asn)
c.1983G>C (p.Lys661Asn)
c.1905G>C (p.Lys635Asn)
c.1857G>C (p.Lys619Asn)
c.1764G>C (p.Lys588Asn)
c.1269G>C (p.Lys423Asn)
c.-66G>C (n.-66G>C)
n.2236G>C
9g.74801909C>TCA465615370TRPM6c.1998G>A (p.Lys666=)
c.1983G>A (p.Lys661=)
c.1905G>A (p.Lys635=)
c.1857G>A (p.Lys619=)
c.1764G>A (p.Lys588=)
c.1269G>A (p.Lys423=)
c.-66G>A (n.-66G>A)
n.2236G>A
 dbSNP gnomAD v2 gnomAD v4
9g.74801910T>ACA373687410TRPM6c.1997A>T (p.Lys666Met)
c.1982A>T (p.Lys661Met)
c.1904A>T (p.Lys635Met)
c.1856A>T (p.Lys619Met)
c.1763A>T (p.Lys588Met)
c.1268A>T (p.Lys423Met)
c.-67A>T (n.-67A>T)
n.2235A>T
9g.74801910T>CCA373687411TRPM6c.1997A>G (p.Lys666Arg)
c.1982A>G (p.Lys661Arg)
c.1904A>G (p.Lys635Arg)
c.1856A>G (p.Lys619Arg)
c.1763A>G (p.Lys588Arg)
c.1268A>G (p.Lys423Arg)
c.-67A>G (n.-67A>G)
n.2235A>G
9g.74801910T>GCA373687414TRPM6c.1997A>C (p.Lys666Thr)
c.1982A>C (p.Lys661Thr)
c.1904A>C (p.Lys635Thr)
c.1856A>C (p.Lys619Thr)
c.1763A>C (p.Lys588Thr)
c.1268A>C (p.Lys423Thr)
c.-67A>C (n.-67A>C)
n.2235A>C
 dbSNP gnomAD v3 gnomAD v4
9g.74801910T=CA1856045852TRPM6c.1997A= (p.Lys666=)
c.1982A= (p.Lys661=)
c.1904A= (p.Lys635=)
c.1856A= (p.Lys619=)
c.1763A= (p.Lys588=)
c.1268A= (p.Lys423=)
c.-67A= (n.-67A=)
n.2235A=
9g.74801911T>ACA373687419TRPM6c.1996A>T (p.Lys666Ter)
c.1981A>T (p.Lys661Ter)
c.1903A>T (p.Lys635Ter)
c.1855A>T (p.Lys619Ter)
c.1762A>T (p.Lys588Ter)
c.1267A>T (p.Lys423Ter)
c.-68A>T (n.-68A>T)
n.2234A>T
9g.74801911T>CCA373687421TRPM6c.1996A>G (p.Lys666Glu)
c.1981A>G (p.Lys661Glu)
c.1903A>G (p.Lys635Glu)
c.1855A>G (p.Lys619Glu)
c.1762A>G (p.Lys588Glu)
c.1267A>G (p.Lys423Glu)
c.-68A>G (n.-68A>G)
n.2234A>G
9g.74801911T>GCA373687424TRPM6c.1996A>C (p.Lys666Gln)
c.1981A>C (p.Lys661Gln)
c.1903A>C (p.Lys635Gln)
c.1855A>C (p.Lys619Gln)
c.1762A>C (p.Lys588Gln)
c.1267A>C (p.Lys423Gln)
c.-68A>C (n.-68A>C)
n.2234A>C
9g.74801912C>ACA373687427TRPM6c.1995G>T (p.Leu665Phe)
c.1980G>T (p.Leu660Phe)
c.1902G>T (p.Leu634Phe)
c.1854G>T (p.Leu618Phe)
c.1761G>T (p.Leu587Phe)
c.1266G>T (p.Leu422Phe)
c.-69G>T (n.-69G>T)
n.2233G>T
9g.74801912C>GCA373687429TRPM6c.1995G>C (p.Leu665Phe)
c.1980G>C (p.Leu660Phe)
c.1902G>C (p.Leu634Phe)
c.1854G>C (p.Leu618Phe)
c.1761G>C (p.Leu587Phe)
c.1266G>C (p.Leu422Phe)
c.-69G>C (n.-69G>C)
n.2233G>C
9g.74801912C>TCA465615371TRPM6c.1995G>A (p.Leu665=)
c.1980G>A (p.Leu660=)
c.1902G>A (p.Leu634=)
c.1854G>A (p.Leu618=)
c.1761G>A (p.Leu587=)
c.1266G>A (p.Leu422=)
c.-69G>A (n.-69G>A)
n.2233G>A
9g.74801913A>CCA373687431TRPM6c.1994T>G (p.Leu665Trp)
c.1979T>G (p.Leu660Trp)
c.1901T>G (p.Leu634Trp)
c.1853T>G (p.Leu618Trp)
c.1760T>G (p.Leu587Trp)
c.1265T>G (p.Leu422Trp)
c.-70T>G (n.-70T>G)
n.2232T>G
9g.74801913A>GCA373687435TRPM6c.1994T>C (p.Leu665Ser)
c.1979T>C (p.Leu660Ser)
c.1901T>C (p.Leu634Ser)
c.1853T>C (p.Leu618Ser)
c.1760T>C (p.Leu587Ser)
c.1265T>C (p.Leu422Ser)
c.-70T>C (n.-70T>C)
n.2232T>C
9g.74801913A>TCA373687437TRPM6c.1994T>A (p.Leu665Ter)
c.1979T>A (p.Leu660Ter)
c.1901T>A (p.Leu634Ter)
c.1853T>A (p.Leu618Ter)
c.1760T>A (p.Leu587Ter)
c.1265T>A (p.Leu422Ter)
c.-70T>A (n.-70T>A)
n.2232T>A
9g.74801914A>CCA373687442TRPM6c.1993T>G (p.Leu665Val)
c.1978T>G (p.Leu660Val)
c.1900T>G (p.Leu634Val)
c.1852T>G (p.Leu618Val)
c.1759T>G (p.Leu587Val)
c.1264T>G (p.Leu422Val)
c.-71T>G (n.-71T>G)
n.2231T>G
9g.74801914A>GCA465615372TRPM6c.1993T>C (p.Leu665=)
c.1978T>C (p.Leu660=)
c.1900T>C (p.Leu634=)
c.1852T>C (p.Leu618=)
c.1759T>C (p.Leu587=)
c.1264T>C (p.Leu422=)
c.-71T>C (n.-71T>C)
n.2231T>C
9g.74801914A>TCA373687439TRPM6c.1993T>A (p.Leu665Met)
c.1978T>A (p.Leu660Met)
c.1900T>A (p.Leu634Met)
c.1852T>A (p.Leu618Met)
c.1759T>A (p.Leu587Met)
c.1264T>A (p.Leu422Met)
c.-71T>A (n.-71T>A)
n.2231T>A
9g.74801915C>ACA373687446TRPM6c.1992G>T (p.Glu664Asp)
c.1977G>T (p.Glu659Asp)
c.1899G>T (p.Glu633Asp)
c.1851G>T (p.Glu617Asp)
c.1758G>T (p.Glu586Asp)
c.1263G>T (p.Glu421Asp)
c.-72G>T (n.-72G>T)
n.2230G>T
 dbSNP gnomAD v3 gnomAD v4
9g.74801915C=CA1856045853TRPM6c.1992G= (p.Glu664=)
c.1977G= (p.Glu659=)
c.1899G= (p.Glu633=)
c.1851G= (p.Glu617=)
c.1758G= (p.Glu586=)
c.1263G= (p.Glu421=)
c.-72G= (n.-72G=)
n.2230G=
9g.74801915C>GCA373687466TRPM6c.1992G>C (p.Glu664Asp)
c.1977G>C (p.Glu659Asp)
c.1899G>C (p.Glu633Asp)
c.1851G>C (p.Glu617Asp)
c.1758G>C (p.Glu586Asp)
c.1263G>C (p.Glu421Asp)
c.-72G>C (n.-72G>C)
n.2230G>C
9g.74801915C>TCA5084690TRPM6c.1992G>A (p.Glu664=)
c.1977G>A (p.Glu659=)
c.1899G>A (p.Glu633=)
c.1851G>A (p.Glu617=)
c.1758G>A (p.Glu586=)
c.1263G>A (p.Glu421=)
c.-72G>A (n.-72G>A)
n.2230G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74801916T>ACA373687476TRPM6c.1991A>T (p.Glu664Val)
c.1976A>T (p.Glu659Val)
c.1898A>T (p.Glu633Val)
c.1850A>T (p.Glu617Val)
c.1757A>T (p.Glu586Val)
c.1262A>T (p.Glu421Val)
c.-73A>T (n.-73A>T)
n.2229A>T
9g.74801916T>CCA5084691TRPM6c.1991A>G (p.Glu664Gly)
c.1976A>G (p.Glu659Gly)
c.1898A>G (p.Glu633Gly)
c.1850A>G (p.Glu617Gly)
c.1757A>G (p.Glu586Gly)
c.1262A>G (p.Glu421Gly)
c.-73A>G (n.-73A>G)
n.2229A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74801916T>GCA373687484TRPM6c.1991A>C (p.Glu664Ala)
c.1976A>C (p.Glu659Ala)
c.1898A>C (p.Glu633Ala)
c.1850A>C (p.Glu617Ala)
c.1757A>C (p.Glu586Ala)
c.1262A>C (p.Glu421Ala)
c.-73A>C (n.-73A>C)
n.2229A>C
9g.74801916T=CA1856045854TRPM6c.1991A= (p.Glu664=)
c.1976A= (p.Glu659=)
c.1898A= (p.Glu633=)
c.1850A= (p.Glu617=)
c.1757A= (p.Glu586=)
c.1262A= (p.Glu421=)
c.-73A= (n.-73A=)
n.2229A=
9g.74801917C>ACA373687488TRPM6c.1990G>T (p.Glu664Ter)
c.1975G>T (p.Glu659Ter)
c.1897G>T (p.Glu633Ter)
c.1849G>T (p.Glu617Ter)
c.1756G>T (p.Glu586Ter)
c.1261G>T (p.Glu421Ter)
c.-74G>T (n.-74G>T)
n.2228G>T
9g.74801917C=CA1856045855TRPM6c.1990G= (p.Glu664=)
c.1975G= (p.Glu659=)
c.1897G= (p.Glu633=)
c.1849G= (p.Glu617=)
c.1756G= (p.Glu586=)
c.1261G= (p.Glu421=)
c.-74G= (n.-74G=)
n.2228G=
9g.74801917C>GCA373687493TRPM6c.1990G>C (p.Glu664Gln)
c.1975G>C (p.Glu659Gln)
c.1897G>C (p.Glu633Gln)
c.1849G>C (p.Glu617Gln)
c.1756G>C (p.Glu586Gln)
c.1261G>C (p.Glu421Gln)
c.-74G>C (n.-74G>C)
n.2228G>C
9g.74801917C>TCA373687498TRPM6c.1990G>A (p.Glu664Lys)
c.1975G>A (p.Glu659Lys)
c.1897G>A (p.Glu633Lys)
c.1849G>A (p.Glu617Lys)
c.1756G>A (p.Glu586Lys)
c.1261G>A (p.Glu421Lys)
c.-74G>A (n.-74G>A)
n.2228G>A
 dbSNP gnomAD v3 gnomAD v4
9g.74801918T>ACA373687552TRPM6c.1989A>T (p.Glu663Asp)
c.1974A>T (p.Glu658Asp)
c.1896A>T (p.Glu632Asp)
c.1848A>T (p.Glu616Asp)
c.1755A>T (p.Glu585Asp)
c.1260A>T (p.Glu420Asp)
c.-75A>T (n.-75A>T)
n.2227A>T
9g.74801918T>CCA465615373TRPM6c.1989A>G (p.Glu663=)
c.1974A>G (p.Glu658=)
c.1896A>G (p.Glu632=)
c.1848A>G (p.Glu616=)
c.1755A>G (p.Glu585=)
c.1260A>G (p.Glu420=)
c.-75A>G (n.-75A>G)
n.2227A>G
9g.74801918T>GCA373687553TRPM6c.1989A>C (p.Glu663Asp)
c.1974A>C (p.Glu658Asp)
c.1896A>C (p.Glu632Asp)
c.1848A>C (p.Glu616Asp)
c.1755A>C (p.Glu585Asp)
c.1260A>C (p.Glu420Asp)
c.-75A>C (n.-75A>C)
n.2227A>C
 COSMIC COSMIC COSMIC
9g.74801919T>ACA373687560TRPM6c.1988A>T (p.Glu663Val)
c.1973A>T (p.Glu658Val)
c.1895A>T (p.Glu632Val)
c.1847A>T (p.Glu616Val)
c.1754A>T (p.Glu585Val)
c.1259A>T (p.Glu420Val)
c.-76A>T (n.-76A>T)
n.2226A>T
9g.74801919T>CCA373687563TRPM6c.1988A>G (p.Glu663Gly)
c.1973A>G (p.Glu658Gly)
c.1895A>G (p.Glu632Gly)
c.1847A>G (p.Glu616Gly)
c.1754A>G (p.Glu585Gly)
c.1259A>G (p.Glu420Gly)
c.-76A>G (n.-76A>G)
n.2226A>G
9g.74801919T>GCA373687566TRPM6c.1988A>C (p.Glu663Ala)
c.1973A>C (p.Glu658Ala)
c.1895A>C (p.Glu632Ala)
c.1847A>C (p.Glu616Ala)
c.1754A>C (p.Glu585Ala)
c.1259A>C (p.Glu420Ala)
c.-76A>C (n.-76A>C)
n.2226A>C
9g.74801920C>ACA373687578TRPM6c.1987G>T (p.Glu663Ter)
c.1972G>T (p.Glu658Ter)
c.1894G>T (p.Glu632Ter)
c.1846G>T (p.Glu616Ter)
c.1753G>T (p.Glu585Ter)
c.1258G>T (p.Glu420Ter)
c.-77G>T (n.-77G>T)
n.2225G>T
9g.74801920C>GCA373687582TRPM6c.1987G>C (p.Glu663Gln)
c.1972G>C (p.Glu658Gln)
c.1894G>C (p.Glu632Gln)
c.1846G>C (p.Glu616Gln)
c.1753G>C (p.Glu585Gln)
c.1258G>C (p.Glu420Gln)
c.-77G>C (n.-77G>C)
n.2225G>C
9g.74801920C>TCA373687575TRPM6c.1987G>A (p.Glu663Lys)
c.1972G>A (p.Glu658Lys)
c.1894G>A (p.Glu632Lys)
c.1846G>A (p.Glu616Lys)
c.1753G>A (p.Glu585Lys)
c.1258G>A (p.Glu420Lys)
c.-77G>A (n.-77G>A)
n.2225G>A
 gnomAD v4
9g.74801921T>ACA465615376TRPM6c.1986A>T (p.Ser662=)
c.1971A>T (p.Ser657=)
c.1893A>T (p.Ser631=)
c.1845A>T (p.Ser615=)
c.1752A>T (p.Ser584=)
c.1257A>T (p.Ser419=)
c.-78A>T (n.-78A>T)
n.2224A>T
9g.74801921T>CCA465615374TRPM6c.1986A>G (p.Ser662=)
c.1971A>G (p.Ser657=)
c.1893A>G (p.Ser631=)
c.1845A>G (p.Ser615=)
c.1752A>G (p.Ser584=)
c.1257A>G (p.Ser419=)
c.-78A>G (n.-78A>G)
n.2224A>G
 dbSNP gnomAD v2 gnomAD v4
9g.74801921T>GCA465615375TRPM6c.1986A>C (p.Ser662=)
c.1971A>C (p.Ser657=)
c.1893A>C (p.Ser631=)
c.1845A>C (p.Ser615=)
c.1752A>C (p.Ser584=)
c.1257A>C (p.Ser419=)
c.-78A>C (n.-78A>C)
n.2224A>C
 dbSNP gnomAD v3 gnomAD v4
9g.74801921T=CA1856045856TRPM6c.1986A= (p.Ser662=)
c.1971A= (p.Ser657=)
c.1893A= (p.Ser631=)
c.1845A= (p.Ser615=)
c.1752A= (p.Ser584=)
c.1257A= (p.Ser419=)
c.-78A= (n.-78A=)
n.2224A=
9g.74801922G>ACA373687588TRPM6c.1985C>T (p.Ser662Leu)
c.1970C>T (p.Ser657Leu)
c.1892C>T (p.Ser631Leu)
c.1844C>T (p.Ser615Leu)
c.1751C>T (p.Ser584Leu)
c.1256C>T (p.Ser419Leu)
c.-79C>T (n.-79C>T)
n.2223C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.74801922G>CCA373687597TRPM6c.1985C>G (p.Ser662Ter)
c.1970C>G (p.Ser657Ter)
c.1892C>G (p.Ser631Ter)
c.1844C>G (p.Ser615Ter)
c.1751C>G (p.Ser584Ter)
c.1256C>G (p.Ser419Ter)
c.-79C>G (n.-79C>G)
n.2223C>G
9g.74801922G=CA1856045857TRPM6c.1985C= (p.Ser662=)
c.1970C= (p.Ser657=)
c.1892C= (p.Ser631=)
c.1844C= (p.Ser615=)
c.1751C= (p.Ser584=)
c.1256C= (p.Ser419=)
c.-79C= (n.-79C=)
n.2223C=
9g.74801922G>TCA373687593TRPM6c.1985C>A (p.Ser662Ter)
c.1970C>A (p.Ser657Ter)
c.1892C>A (p.Ser631Ter)
c.1844C>A (p.Ser615Ter)
c.1751C>A (p.Ser584Ter)
c.1256C>A (p.Ser419Ter)
c.-79C>A (n.-79C>A)
n.2223C>A
9g.74801923A>CCA373687600TRPM6c.1984T>G (p.Ser662Ala)
c.1969T>G (p.Ser657Ala)
c.1891T>G (p.Ser631Ala)
c.1843T>G (p.Ser615Ala)
c.1750T>G (p.Ser584Ala)
c.1255T>G (p.Ser419Ala)
c.-80T>G (n.-80T>G)
n.2222T>G
9g.74801923A>GCA373687610TRPM6c.1984T>C (p.Ser662Pro)
c.1969T>C (p.Ser657Pro)
c.1891T>C (p.Ser631Pro)
c.1843T>C (p.Ser615Pro)
c.1750T>C (p.Ser584Pro)
c.1255T>C (p.Ser419Pro)
c.-80T>C (n.-80T>C)
n.2222T>C
9g.74801923A>TCA373687604TRPM6c.1984T>A (p.Ser662Thr)
c.1969T>A (p.Ser657Thr)
c.1891T>A (p.Ser631Thr)
c.1843T>A (p.Ser615Thr)
c.1750T>A (p.Ser584Thr)
c.1255T>A (p.Ser419Thr)
c.-80T>A (n.-80T>A)
n.2222T>A
9g.74801924G>ACA5084692TRPM6c.1983C>T (p.Ala661=)
c.1968C>T (p.Ala656=)
c.1890C>T (p.Ala630=)
c.1842C>T (p.Ala614=)
c.1749C>T (p.Ala583=)
c.1254C>T (p.Ala418=)
c.-81C>T (n.-81C>T)
n.2221C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.74801924G>CCA465615377TRPM6c.1983C>G (p.Ala661=)
c.1968C>G (p.Ala656=)
c.1890C>G (p.Ala630=)
c.1842C>G (p.Ala614=)
c.1749C>G (p.Ala583=)
c.1254C>G (p.Ala418=)
c.-81C>G (n.-81C>G)
n.2221C>G
9g.74801924G=CA1856045858TRPM6c.1983C= (p.Ala661=)
c.1968C= (p.Ala656=)
c.1890C= (p.Ala630=)
c.1842C= (p.Ala614=)
c.1749C= (p.Ala583=)
c.1254C= (p.Ala418=)
c.-81C= (n.-81C=)
n.2221C=
9g.74801924G>TCA465615378TRPM6c.1983C>A (p.Ala661=)
c.1968C>A (p.Ala656=)
c.1890C>A (p.Ala630=)
c.1842C>A (p.Ala614=)
c.1749C>A (p.Ala583=)
c.1254C>A (p.Ala418=)
c.-81C>A (n.-81C>A)
n.2221C>A
9g.74801925G>ACA373687621TRPM6c.1982C>T (p.Ala661Val)
c.1967C>T (p.Ala656Val)
c.1889C>T (p.Ala630Val)
c.1841C>T (p.Ala614Val)
c.1748C>T (p.Ala583Val)
c.1253C>T (p.Ala418Val)
c.-82C>T (n.-82C>T)
n.2220C>T
9g.74801925G>CCA373687624TRPM6c.1982C>G (p.Ala661Gly)
c.1967C>G (p.Ala656Gly)
c.1889C>G (p.Ala630Gly)
c.1841C>G (p.Ala614Gly)
c.1748C>G (p.Ala583Gly)
c.1253C>G (p.Ala418Gly)
c.-82C>G (n.-82C>G)
n.2220C>G
9g.74801925G>TCA373687627TRPM6c.1982C>A (p.Ala661Asp)
c.1967C>A (p.Ala656Asp)
c.1889C>A (p.Ala630Asp)
c.1841C>A (p.Ala614Asp)
c.1748C>A (p.Ala583Asp)
c.1253C>A (p.Ala418Asp)
c.-82C>A (n.-82C>A)
n.2220C>A
9g.74801926C>ACA373687632TRPM6c.1981G>T (p.Ala661Ser)
c.1966G>T (p.Ala656Ser)
c.1888G>T (p.Ala630Ser)
c.1840G>T (p.Ala614Ser)
c.1747G>T (p.Ala583Ser)
c.1252G>T (p.Ala418Ser)
c.-83G>T (n.-83G>T)
n.2219G>T
9g.74801926C=CA1856045859TRPM6c.1981G= (p.Ala661=)
c.1966G= (p.Ala656=)
c.1888G= (p.Ala630=)
c.1840G= (p.Ala614=)
c.1747G= (p.Ala583=)
c.1252G= (p.Ala418=)
c.-83G= (n.-83G=)
n.2219G=
9g.74801926C>GCA373687634TRPM6c.1981G>C (p.Ala661Pro)
c.1966G>C (p.Ala656Pro)
c.1888G>C (p.Ala630Pro)
c.1840G>C (p.Ala614Pro)
c.1747G>C (p.Ala583Pro)
c.1252G>C (p.Ala418Pro)
c.-83G>C (n.-83G>C)
n.2219G>C
9g.74801926C>TCA194305696TRPM6c.1981G>A (p.Ala661Thr)
c.1966G>A (p.Ala656Thr)
c.1888G>A (p.Ala630Thr)
c.1840G>A (p.Ala614Thr)
c.1747G>A (p.Ala583Thr)
c.1252G>A (p.Ala418Thr)
c.-83G>A (n.-83G>A)
n.2219G>A
 dbSNP gnomAD v3 gnomAD v4
9g.74801927A=CA1856045860TRPM6c.1980T= (p.Asp660=)
c.1965T= (p.Asp655=)
c.1887T= (p.Asp629=)
c.1839T= (p.Asp613=)
c.1746T= (p.Asp582=)
c.1251T= (p.Asp417=)
c.-84T= (n.-84T=)
n.2218T=
9g.74801927A>CCA373687640TRPM6c.1980T>G (p.Asp660Glu)
c.1965T>G (p.Asp655Glu)
c.1887T>G (p.Asp629Glu)
c.1839T>G (p.Asp613Glu)
c.1746T>G (p.Asp582Glu)
c.1251T>G (p.Asp417Glu)
c.-84T>G (n.-84T>G)
n.2218T>G
9g.74801927A>GCA5084693TRPM6c.1980T>C (p.Asp660=)
c.1965T>C (p.Asp655=)
c.1887T>C (p.Asp629=)
c.1839T>C (p.Asp613=)
c.1746T>C (p.Asp582=)
c.1251T>C (p.Asp417=)
c.-84T>C (n.-84T>C)
n.2218T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.74801927A>TCA373687647TRPM6c.1980T>A (p.Asp660Glu)
c.1965T>A (p.Asp655Glu)
c.1887T>A (p.Asp629Glu)
c.1839T>A (p.Asp613Glu)
c.1746T>A (p.Asp582Glu)
c.1251T>A (p.Asp417Glu)
c.-84T>A (n.-84T>A)
n.2218T>A
9g.74801928T>ACA373687650TRPM6c.1979A>T (p.Asp660Val)
c.1964A>T (p.Asp655Val)
c.1886A>T (p.Asp629Val)
c.1838A>T (p.Asp613Val)
c.1745A>T (p.Asp582Val)
c.1250A>T (p.Asp417Val)
c.-85A>T (n.-85A>T)
n.2217A>T
9g.74801928T>CCA373687651TRPM6c.1979A>G (p.Asp660Gly)
c.1964A>G (p.Asp655Gly)
c.1886A>G (p.Asp629Gly)
c.1838A>G (p.Asp613Gly)
c.1745A>G (p.Asp582Gly)
c.1250A>G (p.Asp417Gly)
c.-85A>G (n.-85A>G)
n.2217A>G
9g.74801928T>GCA373687654TRPM6c.1979A>C (p.Asp660Ala)
c.1964A>C (p.Asp655Ala)
c.1886A>C (p.Asp629Ala)
c.1838A>C (p.Asp613Ala)
c.1745A>C (p.Asp582Ala)
c.1250A>C (p.Asp417Ala)
c.-85A>C (n.-85A>C)
n.2217A>C
9g.74801929C>ACA373687666TRPM6c.1978G>T (p.Asp660Tyr)
c.1963G>T (p.Asp655Tyr)
c.1885G>T (p.Asp629Tyr)
c.1837G>T (p.Asp613Tyr)
c.1744G>T (p.Asp582Tyr)
c.1249G>T (p.Asp417Tyr)
c.-86G>T (n.-86G>T)
n.2216G>T
9g.74801929C>GCA373687665TRPM6c.1978G>C (p.Asp660His)
c.1963G>C (p.Asp655His)
c.1885G>C (p.Asp629His)
c.1837G>C (p.Asp613His)
c.1744G>C (p.Asp582His)
c.1249G>C (p.Asp417His)
c.-86G>C (n.-86G>C)
n.2216G>C
9g.74801929C>TCA373687660TRPM6c.1978G>A (p.Asp660Asn)
c.1963G>A (p.Asp655Asn)
c.1885G>A (p.Asp629Asn)
c.1837G>A (p.Asp613Asn)
c.1744G>A (p.Asp582Asn)
c.1249G>A (p.Asp417Asn)
c.-86G>A (n.-86G>A)
n.2216G>A
9g.74801930A>CCA373687671TRPM6c.1977T>G (p.Asp659Glu)
c.1962T>G (p.Asp654Glu)
c.1884T>G (p.Asp628Glu)
c.1836T>G (p.Asp612Glu)
c.1743T>G (p.Asp581Glu)
c.1248T>G (p.Asp416Glu)
c.-87T>G (n.-87T>G)
n.2215T>G
9g.74801930A>GCA465615379TRPM6c.1977T>C (p.Asp659=)
c.1962T>C (p.Asp654=)
c.1884T>C (p.Asp628=)
c.1836T>C (p.Asp612=)
c.1743T>C (p.Asp581=)
c.1248T>C (p.Asp416=)
c.-87T>C (n.-87T>C)
n.2215T>C
9g.74801930A>TCA373687674TRPM6c.1977T>A (p.Asp659Glu)
c.1962T>A (p.Asp654Glu)
c.1884T>A (p.Asp628Glu)
c.1836T>A (p.Asp612Glu)
c.1743T>A (p.Asp581Glu)
c.1248T>A (p.Asp416Glu)
c.-87T>A (n.-87T>A)
n.2215T>A
9g.74801931T>ACA373687679TRPM6c.1976A>T (p.Asp659Val)
c.1961A>T (p.Asp654Val)
c.1883A>T (p.Asp628Val)
c.1835A>T (p.Asp612Val)
c.1742A>T (p.Asp581Val)
c.1247A>T (p.Asp416Val)
c.-88A>T (n.-88A>T)
n.2214A>T
 gnomAD v4
9g.74801931T>CCA373687684TRPM6c.1976A>G (p.Asp659Gly)
c.1961A>G (p.Asp654Gly)
c.1883A>G (p.Asp628Gly)
c.1835A>G (p.Asp612Gly)
c.1742A>G (p.Asp581Gly)
c.1247A>G (p.Asp416Gly)
c.-88A>G (n.-88A>G)
n.2214A>G
 gnomAD v4
9g.74801931T>GCA373687686TRPM6c.1976A>C (p.Asp659Ala)
c.1961A>C (p.Asp654Ala)
c.1883A>C (p.Asp628Ala)
c.1835A>C (p.Asp612Ala)
c.1742A>C (p.Asp581Ala)
c.1247A>C (p.Asp416Ala)
c.-88A>C (n.-88A>C)
n.2214A>C
9g.74801932C>ACA373687700TRPM6c.1975G>T (p.Asp659Tyr)
c.1960G>T (p.Asp654Tyr)
c.1882G>T (p.Asp628Tyr)
c.1834G>T (p.Asp612Tyr)
c.1741G>T (p.Asp581Tyr)
c.1246G>T (p.Asp416Tyr)
c.-89G>T (n.-89G>T)
n.2213G>T
 COSMIC COSMIC COSMIC
9g.74801932C>GCA373687703TRPM6c.1975G>C (p.Asp659His)
c.1960G>C (p.Asp654His)
c.1882G>C (p.Asp628His)
c.1834G>C (p.Asp612His)
c.1741G>C (p.Asp581His)
c.1246G>C (p.Asp416His)
c.-89G>C (n.-89G>C)
n.2213G>C
9g.74801932C>TCA373687707TRPM6c.1975G>A (p.Asp659Asn)
c.1960G>A (p.Asp654Asn)
c.1882G>A (p.Asp628Asn)
c.1834G>A (p.Asp612Asn)
c.1741G>A (p.Asp581Asn)
c.1246G>A (p.Asp416Asn)
c.-89G>A (n.-89G>A)
n.2213G>A
9g.74801933C>ACA465615380TRPM6c.1974G>T (p.Val658=)
c.1959G>T (p.Val653=)
c.1881G>T (p.Val627=)
c.1833G>T (p.Val611=)
c.1740G>T (p.Val580=)
c.1245G>T (p.Val415=)
c.-90G>T (n.-90G>T)
n.2212G>T
9g.74801933C>GCA465615381TRPM6c.1974G>C (p.Val658=)
c.1959G>C (p.Val653=)
c.1881G>C (p.Val627=)
c.1833G>C (p.Val611=)
c.1740G>C (p.Val580=)
c.1245G>C (p.Val415=)
c.-90G>C (n.-90G>C)
n.2212G>C
9g.74801933C>TCA465615382TRPM6c.1974G>A (p.Val658=)
c.1959G>A (p.Val653=)
c.1881G>A (p.Val627=)
c.1833G>A (p.Val611=)
c.1740G>A (p.Val580=)
c.1245G>A (p.Val415=)
c.-90G>A (n.-90G>A)
n.2212G>A
9g.74801934A>CCA373687712TRPM6c.1973T>G (p.Val658Gly)
c.1958T>G (p.Val653Gly)
c.1880T>G (p.Val627Gly)
c.1832T>G (p.Val611Gly)
c.1739T>G (p.Val580Gly)
c.1244T>G (p.Val415Gly)
c.-91T>G (n.-91T>G)
n.2211T>G
9g.74801934A>GCA373687713TRPM6c.1973T>C (p.Val658Ala)
c.1958T>C (p.Val653Ala)
c.1880T>C (p.Val627Ala)
c.1832T>C (p.Val611Ala)
c.1739T>C (p.Val580Ala)
c.1244T>C (p.Val415Ala)
c.-91T>C (n.-91T>C)
n.2211T>C
9g.74801934A>TCA373687716TRPM6c.1973T>A (p.Val658Glu)
c.1958T>A (p.Val653Glu)
c.1880T>A (p.Val627Glu)
c.1832T>A (p.Val611Glu)
c.1739T>A (p.Val580Glu)
c.1244T>A (p.Val415Glu)
c.-91T>A (n.-91T>A)
n.2211T>A
9g.74801935C>ACA373687720TRPM6c.1972G>T (p.Val658Leu)
c.1957G>T (p.Val653Leu)
c.1879G>T (p.Val627Leu)
c.1831G>T (p.Val611Leu)
c.1738G>T (p.Val580Leu)
c.1243G>T (p.Val415Leu)
c.-92G>T (n.-92G>T)
n.2210G>T
 COSMIC COSMIC COSMIC
9g.74801935C=CA1856045861TRPM6c.1972G= (p.Val658=)
c.1957G= (p.Val653=)
c.1879G= (p.Val627=)
c.1831G= (p.Val611=)
c.1738G= (p.Val580=)
c.1243G= (p.Val415=)
c.-92G= (n.-92G=)
n.2210G=
9g.74801935C>GCA373687722TRPM6c.1972G>C (p.Val658Leu)
c.1957G>C (p.Val653Leu)
c.1879G>C (p.Val627Leu)
c.1831G>C (p.Val611Leu)
c.1738G>C (p.Val580Leu)
c.1243G>C (p.Val415Leu)
c.-92G>C (n.-92G>C)
n.2210G>C
9g.74801935C>TCA373687726TRPM6c.1972G>A (p.Val658Met)
c.1957G>A (p.Val653Met)
c.1879G>A (p.Val627Met)
c.1831G>A (p.Val611Met)
c.1738G>A (p.Val580Met)
c.1243G>A (p.Val415Met)
c.-92G>A (n.-92G>A)
n.2210G>A
 dbSNP
9g.74801935_74801936insGGGGGAGCTTTCAAAATCATTAATTGAACATTTCATAGTTAGGAAACTAAAGCCCA5084694TRPM6c.1972_1973insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG (p.Met657_Val658insGlyPheSerPheLeuThrMetLysCysSerIleAsnAspPheGluSerSerPro)
c.1957_1958insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG (p.Met652_Val653insGlyPheSerPheLeuThrMetLysCysSerIleAsnAspPheGluSerSerPro)
c.1879_1880insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG (p.Met626_Val627insGlyPheSerPheLeuThrMetLysCysSerIleAsnAspPheGluSerSerPro)
c.1831_1832insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG (p.Met610_Val611insGlyPheSerPheLeuThrMetLysCysSerIleAsnAspPheGluSerSerPro)
c.1738_1739insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG (p.Met579_Val580insGlyPheSerPheLeuThrMetLysCysSerIleAsnAspPheGluSerSerPro)
c.1243_1244insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG (p.Met414_Val415insGlyPheSerPheLeuThrMetLysCysSerIleAsnAspPheGluSerSerPro)
c.-92_-91insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG (n.-92_-91insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG)
n.2210_2211insGCTTTAGTTTCCTAACTATGAAATGTTCAATTAATGATTTTGAAAGCTCCCCCG
 ExAC
9g.74801936C>ACA373687737TRPM6c.1971G>T (p.Met657Ile)
c.1956G>T (p.Met652Ile)
c.1878G>T (p.Met626Ile)
c.1830G>T (p.Met610Ile)
c.1737G>T (p.Met579Ile)
c.1242G>T (p.Met414Ile)
c.-93G>T (n.-93G>T)
n.2209G>T
9g.74801936C>GCA373687740TRPM6c.1971G>C (p.Met657Ile)
c.1956G>C (p.Met652Ile)
c.1878G>C (p.Met626Ile)
c.1830G>C (p.Met610Ile)
c.1737G>C (p.Met579Ile)
c.1242G>C (p.Met414Ile)
c.-93G>C (n.-93G>C)
n.2209G>C
9g.74801936C>TCA373687732TRPM6c.1971G>A (p.Met657Ile)
c.1956G>A (p.Met652Ile)
c.1878G>A (p.Met626Ile)
c.1830G>A (p.Met610Ile)
c.1737G>A (p.Met579Ile)
c.1242G>A (p.Met414Ile)
c.-93G>A (n.-93G>A)
n.2209G>A
 gnomAD v4
9g.74801937delCA2579355868TRPM6c.1970del (p.Met657ArgfsTer9)
c.1955del (p.Met652ArgfsTer9)
c.1877del (p.Met626ArgfsTer9)
c.1829del (p.Met610ArgfsTer9)
c.1736del (p.Met579ArgfsTer9)
c.1241del (p.Met414ArgfsTer9)
c.-94del (n.-94del)
n.2208del
9g.74801937A>CCA373687746TRPM6c.1970T>G (p.Met657Arg)
c.1955T>G (p.Met652Arg)
c.1877T>G (p.Met626Arg)
c.1829T>G (p.Met610Arg)
c.1736T>G (p.Met579Arg)
c.1241T>G (p.Met414Arg)
c.-94T>G (n.-94T>G)
n.2208T>G
9g.74801937A>GCA373687749TRPM6c.1970T>C (p.Met657Thr)
c.1955T>C (p.Met652Thr)
c.1877T>C (p.Met626Thr)
c.1829T>C (p.Met610Thr)
c.1736T>C (p.Met579Thr)
c.1241T>C (p.Met414Thr)
c.-94T>C (n.-94T>C)
n.2208T>C
9g.74801937A>TCA373687755TRPM6c.1970T>A (p.Met657Lys)
c.1955T>A (p.Met652Lys)
c.1877T>A (p.Met626Lys)
c.1829T>A (p.Met610Lys)
c.1736T>A (p.Met579Lys)
c.1241T>A (p.Met414Lys)
c.-94T>A (n.-94T>A)
n.2208T>A
9g.74801938T>ACA373687761TRPM6c.1969A>T (p.Met657Leu)
c.1954A>T (p.Met652Leu)
c.1876A>T (p.Met626Leu)
c.1828A>T (p.Met610Leu)
c.1735A>T (p.Met579Leu)
c.1240A>T (p.Met414Leu)
c.-95A>T (n.-95A>T)
n.2207A>T
 dbSNP
9g.74801938T>CCA5084695TRPM6c.1969A>G (p.Met657Val)
c.1954A>G (p.Met652Val)
c.1876A>G (p.Met626Val)
c.1828A>G (p.Met610Val)
c.1735A>G (p.Met579Val)
c.1240A>G (p.Met414Val)
c.-95A>G (n.-95A>G)
n.2207A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.74801938T>GCA373687771TRPM6c.1969A>C (p.Met657Leu)
c.1954A>C (p.Met652Leu)
c.1876A>C (p.Met626Leu)
c.1828A>C (p.Met610Leu)
c.1735A>C (p.Met579Leu)
c.1240A>C (p.Met414Leu)
c.-95A>C (n.-95A>C)
n.2207A>C
 gnomAD v4
9g.74801938T=CA1856045862TRPM6c.1969A= (p.Met657=)
c.1954A= (p.Met652=)
c.1876A= (p.Met626=)
c.1828A= (p.Met610=)
c.1735A= (p.Met579=)
c.1240A= (p.Met414=)
c.-95A= (n.-95A=)
n.2207A=
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

Number of alleles fetched