Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1043928A>CCA337835107AGRNc.1904A>C (p.Asp635Ala)
c.1589A>C (p.Asp530Ala)
c.1490A>C (p.Asp497Ala)
c.1031A>C (p.Asp344Ala)
c.170A>C (p.Asp57Ala)
n.1971A>C
n.1975A>C
1g.1043928A>GCA337835122AGRNc.1904A>G (p.Asp635Gly)
c.1589A>G (p.Asp530Gly)
c.1490A>G (p.Asp497Gly)
c.1031A>G (p.Asp344Gly)
c.170A>G (p.Asp57Gly)
n.1971A>G
n.1975A>G
1g.1043928A>TCA337835125AGRNc.1904A>T (p.Asp635Val)
c.1589A>T (p.Asp530Val)
c.1490A>T (p.Asp497Val)
c.1031A>T (p.Asp344Val)
c.170A>T (p.Asp57Val)
n.1971A>T
n.1975A>T
1g.1043929C>ACA16754498AGRNc.1905C>A (p.Asp635Glu)
c.1590C>A (p.Asp530Glu)
c.1491C>A (p.Asp497Glu)
c.1032C>A (p.Asp344Glu)
c.171C>A (p.Asp57Glu)
n.1972C>A
n.1976C>A
 dbSNP
1g.1043929C=CA1148772939AGRNc.1905C= (p.Asp635=)
c.1590C= (p.Asp530=)
c.1491C= (p.Asp497=)
c.1032C= (p.Asp344=)
c.171C= (p.Asp57=)
n.1972C=
n.1976C=
1g.1043929C>GCA337835129AGRNc.1905C>G (p.Asp635Glu)
c.1590C>G (p.Asp530Glu)
c.1491C>G (p.Asp497Glu)
c.1032C>G (p.Asp344Glu)
c.171C>G (p.Asp57Glu)
n.1972C>G
n.1976C>G
1g.1043929C>TCA508376AGRNc.1905C>T (p.Asp635=)
c.1590C>T (p.Asp530=)
c.1491C>T (p.Asp497=)
c.1032C>T (p.Asp344=)
c.171C>T (p.Asp57=)
n.1972C>T
n.1976C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043930_1043935delCA2580061053AGRNc.1906_1911del (p.Gly636_Val637del)
c.1591_1596del (p.Gly531_Val532del)
c.1492_1497del (p.Gly498_Val499del)
c.1033_1038del (p.Gly345_Val346del)
c.172_177del (p.Gly58_Val59del)
n.1973_1978del
n.1977_1982del
 ClinVar
1g.1043930G>ACA16603377AGRNc.1906G>A (p.Gly636Ser)
c.1591G>A (p.Gly531Ser)
c.1492G>A (p.Gly498Ser)
c.1033G>A (p.Gly345Ser)
c.172G>A (p.Gly58Ser)
n.1973G>A
n.1977G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1043930G>CCA337835149AGRNc.1906G>C (p.Gly636Arg)
c.1591G>C (p.Gly531Arg)
c.1492G>C (p.Gly498Arg)
c.1033G>C (p.Gly345Arg)
c.172G>C (p.Gly58Arg)
n.1973G>C
n.1977G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1043930G=CA1148772943AGRNc.1906G= (p.Gly636=)
c.1591G= (p.Gly531=)
c.1492G= (p.Gly498=)
c.1033G= (p.Gly345=)
c.172G= (p.Gly58=)
n.1973G=
n.1977G=
1g.1043930G>TCA337835152AGRNc.1906G>T (p.Gly636Cys)
c.1591G>T (p.Gly531Cys)
c.1492G>T (p.Gly498Cys)
c.1033G>T (p.Gly345Cys)
c.172G>T (p.Gly58Cys)
n.1973G>T
n.1977G>T
 gnomAD v4
1g.1043931G>ACA508377AGRNc.1907G>A (p.Gly636Asp)
c.1592G>A (p.Gly531Asp)
c.1493G>A (p.Gly498Asp)
c.1034G>A (p.Gly345Asp)
c.173G>A (p.Gly58Asp)
n.1974G>A
n.1978G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1043931G>CCA337835153AGRNc.1907G>C (p.Gly636Ala)
c.1592G>C (p.Gly531Ala)
c.1493G>C (p.Gly498Ala)
c.1034G>C (p.Gly345Ala)
c.173G>C (p.Gly58Ala)
n.1974G>C
n.1978G>C
 gnomAD v4
1g.1043931G=CA1148772955AGRNc.1907G= (p.Gly636=)
c.1592G= (p.Gly531=)
c.1493G= (p.Gly498=)
c.1034G= (p.Gly345=)
c.173G= (p.Gly58=)
n.1974G=
n.1978G=
1g.1043931G>TCA337835154AGRNc.1907G>T (p.Gly636Val)
c.1592G>T (p.Gly531Val)
c.1493G>T (p.Gly498Val)
c.1034G>T (p.Gly345Val)
c.173G>T (p.Gly58Val)
n.1974G>T
n.1978G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1043932T>ACA415757201AGRNc.1908T>A (p.Gly636=)
c.1593T>A (p.Gly531=)
c.1494T>A (p.Gly498=)
c.1035T>A (p.Gly345=)
c.174T>A (p.Gly58=)
n.1975T>A
n.1979T>A
1g.1043932T>CCA415757203AGRNc.1908T>C (p.Gly636=)
c.1593T>C (p.Gly531=)
c.1494T>C (p.Gly498=)
c.1035T>C (p.Gly345=)
c.174T>C (p.Gly58=)
n.1975T>C
n.1979T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1043932T>GCA16754508AGRNc.1908T>G (p.Gly636=)
c.1593T>G (p.Gly531=)
c.1494T>G (p.Gly498=)
c.1035T>G (p.Gly345=)
c.174T>G (p.Gly58=)
n.1975T>G
n.1979T>G
 dbSNP
1g.1043932T=CA1148772970AGRNc.1908T= (p.Gly636=)
c.1593T= (p.Gly531=)
c.1494T= (p.Gly498=)
c.1035T= (p.Gly345=)
c.174T= (p.Gly58=)
n.1975T=
n.1979T=
1g.1043933G>ACA337835156AGRNc.1909G>A (p.Val637Ile)
c.1594G>A (p.Val532Ile)
c.1495G>A (p.Val499Ile)
c.1036G>A (p.Val346Ile)
c.175G>A (p.Val59Ile)
n.1976G>A
n.1980G>A
 dbSNP gnomAD v2 gnomAD v4
1g.1043933G>CCA337835157AGRNc.1909G>C (p.Val637Leu)
c.1594G>C (p.Val532Leu)
c.1495G>C (p.Val499Leu)
c.1036G>C (p.Val346Leu)
c.175G>C (p.Val59Leu)
n.1976G>C
n.1980G>C
1g.1043933G=CA1148772987AGRNc.1909G= (p.Val637=)
c.1594G= (p.Val532=)
c.1495G= (p.Val499=)
c.1036G= (p.Val346=)
c.175G= (p.Val59=)
n.1976G=
n.1980G=
1g.1043933G>TCA337835155AGRNc.1909G>T (p.Val637Phe)
c.1594G>T (p.Val532Phe)
c.1495G>T (p.Val499Phe)
c.1036G>T (p.Val346Phe)
c.175G>T (p.Val59Phe)
n.1976G>T
n.1980G>T
 gnomAD v4
1g.1043934T>ACA337835160AGRNc.1910T>A (p.Val637Asp)
c.1595T>A (p.Val532Asp)
c.1496T>A (p.Val499Asp)
c.1037T>A (p.Val346Asp)
c.176T>A (p.Val59Asp)
n.1977T>A
n.1981T>A
1g.1043934T>CCA337835162AGRNc.1910T>C (p.Val637Ala)
c.1595T>C (p.Val532Ala)
c.1496T>C (p.Val499Ala)
c.1037T>C (p.Val346Ala)
c.176T>C (p.Val59Ala)
n.1977T>C
n.1981T>C
1g.1043934T>GCA337835164AGRNc.1910T>G (p.Val637Gly)
c.1595T>G (p.Val532Gly)
c.1496T>G (p.Val499Gly)
c.1037T>G (p.Val346Gly)
c.176T>G (p.Val59Gly)
n.1977T>G
n.1981T>G
1g.1043935C>ACA415757205AGRNc.1911C>A (p.Val637=)
c.1596C>A (p.Val532=)
c.1497C>A (p.Val499=)
c.1038C>A (p.Val346=)
c.177C>A (p.Val59=)
n.1978C>A
n.1982C>A
1g.1043935C=CA1148773038AGRNc.1911C= (p.Val637=)
c.1596C= (p.Val532=)
c.1497C= (p.Val499=)
c.1038C= (p.Val346=)
c.177C= (p.Val59=)
n.1978C=
n.1982C=
1g.1043935C>GCA415757204AGRNc.1911C>G (p.Val637=)
c.1596C>G (p.Val532=)
c.1497C>G (p.Val499=)
c.1038C>G (p.Val346=)
c.177C>G (p.Val59=)
n.1978C>G
n.1982C>G
1g.1043935C>TCA415757206AGRNc.1911C>T (p.Val637=)
c.1596C>T (p.Val532=)
c.1497C>T (p.Val499=)
c.1038C>T (p.Val346=)
c.177C>T (p.Val59=)
n.1978C>T
n.1982C>T
 dbSNP gnomAD v2 gnomAD v4
1g.1043936A=CA1148773041AGRNc.1912A= (p.Thr638=)
c.1597A= (p.Thr533=)
c.1498A= (p.Thr500=)
c.1039A= (p.Thr347=)
c.178A= (p.Thr60=)
n.1979A=
n.1983A=
1g.1043936A>CCA337835167AGRNc.1912A>C (p.Thr638Pro)
c.1597A>C (p.Thr533Pro)
c.1498A>C (p.Thr500Pro)
c.1039A>C (p.Thr347Pro)
c.178A>C (p.Thr60Pro)
n.1979A>C
n.1983A>C
1g.1043936A>GCA337835169AGRNc.1912A>G (p.Thr638Ala)
c.1597A>G (p.Thr533Ala)
c.1498A>G (p.Thr500Ala)
c.1039A>G (p.Thr347Ala)
c.178A>G (p.Thr60Ala)
n.1979A>G
n.1983A>G
 dbSNP gnomAD v3 gnomAD v4
1g.1043936A>TCA337835172AGRNc.1912A>T (p.Thr638Ser)
c.1597A>T (p.Thr533Ser)
c.1498A>T (p.Thr500Ser)
c.1039A>T (p.Thr347Ser)
c.178A>T (p.Thr60Ser)
n.1979A>T
n.1983A>T
1g.1043937C>ACA337835175AGRNc.1913C>A (p.Thr638Asn)
c.1598C>A (p.Thr533Asn)
c.1499C>A (p.Thr500Asn)
c.1040C>A (p.Thr347Asn)
c.179C>A (p.Thr60Asn)
n.1980C>A
n.1984C>A
1g.1043937C=CA1148773043AGRNc.1913C= (p.Thr638=)
c.1598C= (p.Thr533=)
c.1499C= (p.Thr500=)
c.1040C= (p.Thr347=)
c.179C= (p.Thr60=)
n.1980C=
n.1984C=
1g.1043937C>GCA337835179AGRNc.1913C>G (p.Thr638Ser)
c.1598C>G (p.Thr533Ser)
c.1499C>G (p.Thr500Ser)
c.1040C>G (p.Thr347Ser)
c.179C>G (p.Thr60Ser)
n.1980C>G
n.1984C>G
1g.1043937C>TCA337835200AGRNc.1913C>T (p.Thr638Ile)
c.1598C>T (p.Thr533Ile)
c.1499C>T (p.Thr500Ile)
c.1040C>T (p.Thr347Ile)
c.179C>T (p.Thr60Ile)
n.1980C>T
n.1984C>T
 dbSNP gnomAD v4
1g.1043938C>ACA415757209AGRNc.1914C>A (p.Thr638=)
c.1599C>A (p.Thr533=)
c.1500C>A (p.Thr500=)
c.1041C>A (p.Thr347=)
c.180C>A (p.Thr60=)
n.1981C>A
n.1985C>A
 gnomAD v3 gnomAD v4
1g.1043938C>GCA415757210AGRNc.1914C>G (p.Thr638=)
c.1599C>G (p.Thr533=)
c.1500C>G (p.Thr500=)
c.1041C>G (p.Thr347=)
c.180C>G (p.Thr60=)
n.1981C>G
n.1985C>G
1g.1043938C>TCA415757211AGRNc.1914C>T (p.Thr638=)
c.1599C>T (p.Thr533=)
c.1500C>T (p.Thr500=)
c.1041C>T (p.Thr347=)
c.180C>T (p.Thr60=)
n.1981C>T
n.1985C>T
1g.1043944_1043962delCA645511360AGRNc.1920_1938del (p.Ser641LysfsTer?)
c.1605_1623del (p.Ser536LysfsTer?)
c.1506_1524del (p.Ser503LysfsTer?)
c.1047_1065del (p.Ser350LysfsTer?)
c.186_204del (p.Ser63LysfsTer?)
n.1987_2005del
n.1991_2009del
 COSMIC
1g.1043939T>ACA337835201AGRNc.1915T>A (p.Tyr639Asn)
c.1600T>A (p.Tyr534Asn)
c.1501T>A (p.Tyr501Asn)
c.1042T>A (p.Tyr348Asn)
c.181T>A (p.Tyr61Asn)
n.1982T>A
n.1986T>A
1g.1043939T>CCA337835202AGRNc.1915T>C (p.Tyr639His)
c.1600T>C (p.Tyr534His)
c.1501T>C (p.Tyr501His)
c.1042T>C (p.Tyr348His)
c.181T>C (p.Tyr61His)
n.1982T>C
n.1986T>C
1g.1043939T>GCA337835203AGRNc.1915T>G (p.Tyr639Asp)
c.1600T>G (p.Tyr534Asp)
c.1501T>G (p.Tyr501Asp)
c.1042T>G (p.Tyr348Asp)
c.181T>G (p.Tyr61Asp)
n.1982T>G
n.1986T>G
1g.1043940A=CA1148773048AGRNc.1916A= (p.Tyr639=)
c.1601A= (p.Tyr534=)
c.1502A= (p.Tyr501=)
c.1043A= (p.Tyr348=)
c.182A= (p.Tyr61=)
n.1983A=
n.1987A=
1g.1043940A>CCA337835206AGRNc.1916A>C (p.Tyr639Ser)
c.1601A>C (p.Tyr534Ser)
c.1502A>C (p.Tyr501Ser)
c.1043A>C (p.Tyr348Ser)
c.182A>C (p.Tyr61Ser)
n.1983A>C
n.1987A>C
1g.1043940A>GCA508378AGRNc.1916A>G (p.Tyr639Cys)
c.1601A>G (p.Tyr534Cys)
c.1502A>G (p.Tyr501Cys)
c.1043A>G (p.Tyr348Cys)
c.182A>G (p.Tyr61Cys)
n.1983A>G
n.1987A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1043940A>TCA337835204AGRNc.1916A>T (p.Tyr639Phe)
c.1601A>T (p.Tyr534Phe)
c.1502A>T (p.Tyr501Phe)
c.1043A>T (p.Tyr348Phe)
c.182A>T (p.Tyr61Phe)
n.1983A>T
n.1987A>T
1g.1043941C>ACA337835209AGRNc.1917C>A (p.Tyr639Ter)
c.1602C>A (p.Tyr534Ter)
c.1503C>A (p.Tyr501Ter)
c.1044C>A (p.Tyr348Ter)
c.183C>A (p.Tyr61Ter)
n.1984C>A
n.1988C>A
 gnomAD v4
1g.1043941C=CA1148773052AGRNc.1917C= (p.Tyr639=)
c.1602C= (p.Tyr534=)
c.1503C= (p.Tyr501=)
c.1044C= (p.Tyr348=)
c.183C= (p.Tyr61=)
n.1984C=
n.1988C=
1g.1043941C>GCA337835210AGRNc.1917C>G (p.Tyr639Ter)
c.1602C>G (p.Tyr534Ter)
c.1503C>G (p.Tyr501Ter)
c.1044C>G (p.Tyr348Ter)
c.183C>G (p.Tyr61Ter)
n.1984C>G
n.1988C>G
1g.1043941C>TCA16754512AGRNc.1917C>T (p.Tyr639=)
c.1602C>T (p.Tyr534=)
c.1503C>T (p.Tyr501=)
c.1044C>T (p.Tyr348=)
c.183C>T (p.Tyr61=)
n.1984C>T
n.1988C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1043942G>ACA508379AGRNc.1918G>A (p.Gly640Ser)
c.1603G>A (p.Gly535Ser)
c.1504G>A (p.Gly502Ser)
c.1045G>A (p.Gly349Ser)
c.184G>A (p.Gly62Ser)
n.1985G>A
n.1989G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043942G>CCA337835213AGRNc.1918G>C (p.Gly640Arg)
c.1603G>C (p.Gly535Arg)
c.1504G>C (p.Gly502Arg)
c.1045G>C (p.Gly349Arg)
c.184G>C (p.Gly62Arg)
n.1985G>C
n.1989G>C
 gnomAD v4
1g.1043942G=CA1148773062AGRNc.1918G= (p.Gly640=)
c.1603G= (p.Gly535=)
c.1504G= (p.Gly502=)
c.1045G= (p.Gly349=)
c.184G= (p.Gly62=)
n.1985G=
n.1989G=
1g.1043942G>TCA337835215AGRNc.1918G>T (p.Gly640Cys)
c.1603G>T (p.Gly535Cys)
c.1504G>T (p.Gly502Cys)
c.1045G>T (p.Gly349Cys)
c.184G>T (p.Gly62Cys)
n.1985G>T
n.1989G>T
 gnomAD v4
1g.1043943G>ACA337835224AGRNc.1919G>A (p.Gly640Asp)
c.1604G>A (p.Gly535Asp)
c.1505G>A (p.Gly502Asp)
c.1046G>A (p.Gly349Asp)
c.185G>A (p.Gly62Asp)
n.1986G>A
n.1990G>A
 dbSNP gnomAD v4
1g.1043943G>CCA337835217AGRNc.1919G>C (p.Gly640Ala)
c.1604G>C (p.Gly535Ala)
c.1505G>C (p.Gly502Ala)
c.1046G>C (p.Gly349Ala)
c.185G>C (p.Gly62Ala)
n.1986G>C
n.1990G>C
1g.1043943G=CA1148773101AGRNc.1919G= (p.Gly640=)
c.1604G= (p.Gly535=)
c.1505G= (p.Gly502=)
c.1046G= (p.Gly349=)
c.185G= (p.Gly62=)
n.1986G=
n.1990G=
1g.1043943G>TCA337835221AGRNc.1919G>T (p.Gly640Val)
c.1604G>T (p.Gly535Val)
c.1505G>T (p.Gly502Val)
c.1046G>T (p.Gly349Val)
c.185G>T (p.Gly62Val)
n.1986G>T
n.1990G>T
 gnomAD v4
1g.1043944C>ACA415757222AGRNc.1920C>A (p.Gly640=)
c.1605C>A (p.Gly535=)
c.1506C>A (p.Gly502=)
c.1047C>A (p.Gly349=)
c.186C>A (p.Gly62=)
n.1987C>A
n.1991C>A
1g.1043944C=CA1148773106AGRNc.1920C= (p.Gly640=)
c.1605C= (p.Gly535=)
c.1506C= (p.Gly502=)
c.1047C= (p.Gly349=)
c.186C= (p.Gly62=)
n.1987C=
n.1991C=
1g.1043944C>GCA508381AGRNc.1920C>G (p.Gly640=)
c.1605C>G (p.Gly535=)
c.1506C>G (p.Gly502=)
c.1047C>G (p.Gly349=)
c.186C>G (p.Gly62=)
n.1987C>G
n.1991C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043944C>TCA508380AGRNc.1920C>T (p.Gly640=)
c.1605C>T (p.Gly535=)
c.1506C>T (p.Gly502=)
c.1047C>T (p.Gly349=)
c.186C>T (p.Gly62=)
n.1987C>T
n.1991C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043945A>CCA337835225AGRNc.1921A>C (p.Ser641Arg)
c.1606A>C (p.Ser536Arg)
c.1507A>C (p.Ser503Arg)
c.1048A>C (p.Ser350Arg)
c.187A>C (p.Ser63Arg)
n.1988A>C
n.1992A>C
1g.1043945A>GCA337835226AGRNc.1921A>G (p.Ser641Gly)
c.1606A>G (p.Ser536Gly)
c.1507A>G (p.Ser503Gly)
c.1048A>G (p.Ser350Gly)
c.187A>G (p.Ser63Gly)
n.1988A>G
n.1992A>G
1g.1043945A>TCA337835228AGRNc.1921A>T (p.Ser641Cys)
c.1606A>T (p.Ser536Cys)
c.1507A>T (p.Ser503Cys)
c.1048A>T (p.Ser350Cys)
c.187A>T (p.Ser63Cys)
n.1988A>T
n.1992A>T
1g.1043946G>ACA337835231AGRNc.1922G>A (p.Ser641Asn)
c.1607G>A (p.Ser536Asn)
c.1508G>A (p.Ser503Asn)
c.1049G>A (p.Ser350Asn)
c.188G>A (p.Ser63Asn)
n.1989G>A
n.1993G>A
1g.1043946G>CCA337835238AGRNc.1922G>C (p.Ser641Thr)
c.1607G>C (p.Ser536Thr)
c.1508G>C (p.Ser503Thr)
c.1049G>C (p.Ser350Thr)
c.188G>C (p.Ser63Thr)
n.1989G>C
n.1993G>C
1g.1043946G>TCA337835233AGRNc.1922G>T (p.Ser641Ile)
c.1607G>T (p.Ser536Ile)
c.1508G>T (p.Ser503Ile)
c.1049G>T (p.Ser350Ile)
c.188G>T (p.Ser63Ile)
n.1989G>T
n.1993G>T
 gnomAD v4
1g.1043947T>ACA337835240AGRNc.1923T>A (p.Ser641Arg)
c.1608T>A (p.Ser536Arg)
c.1509T>A (p.Ser503Arg)
c.1050T>A (p.Ser350Arg)
c.189T>A (p.Ser63Arg)
n.1990T>A
n.1994T>A
1g.1043947T>CCA415757228AGRNc.1923T>C (p.Ser641=)
c.1608T>C (p.Ser536=)
c.1509T>C (p.Ser503=)
c.1050T>C (p.Ser350=)
c.189T>C (p.Ser63=)
n.1990T>C
n.1994T>C
 gnomAD v3 gnomAD v4
1g.1043947T>GCA337835243AGRNc.1923T>G (p.Ser641Arg)
c.1608T>G (p.Ser536Arg)
c.1509T>G (p.Ser503Arg)
c.1050T>G (p.Ser350Arg)
c.189T>G (p.Ser63Arg)
n.1990T>G
n.1994T>G
1g.1043948G>ACA337835244AGRNc.1924G>A (p.Ala642Thr)
c.1609G>A (p.Ala537Thr)
c.1510G>A (p.Ala504Thr)
c.1051G>A (p.Ala351Thr)
c.190G>A (p.Ala64Thr)
n.1991G>A
n.1995G>A
1g.1043948G>CCA337835252AGRNc.1924G>C (p.Ala642Pro)
c.1609G>C (p.Ala537Pro)
c.1510G>C (p.Ala504Pro)
c.1051G>C (p.Ala351Pro)
c.190G>C (p.Ala64Pro)
n.1991G>C
n.1995G>C
1g.1043948G>TCA337835257AGRNc.1924G>T (p.Ala642Ser)
c.1609G>T (p.Ala537Ser)
c.1510G>T (p.Ala504Ser)
c.1051G>T (p.Ala351Ser)
c.190G>T (p.Ala64Ser)
n.1991G>T
n.1995G>T
1g.1043949C>ACA337835274AGRNc.1925C>A (p.Ala642Asp)
c.1610C>A (p.Ala537Asp)
c.1511C>A (p.Ala504Asp)
c.1052C>A (p.Ala351Asp)
c.191C>A (p.Ala64Asp)
n.1992C>A
n.1996C>A
 gnomAD v4
1g.1043949C>GCA337835276AGRNc.1925C>G (p.Ala642Gly)
c.1610C>G (p.Ala537Gly)
c.1511C>G (p.Ala504Gly)
c.1052C>G (p.Ala351Gly)
c.191C>G (p.Ala64Gly)
n.1992C>G
n.1996C>G
1g.1043949C>TCA337835284AGRNc.1925C>T (p.Ala642Val)
c.1610C>T (p.Ala537Val)
c.1511C>T (p.Ala504Val)
c.1052C>T (p.Ala351Val)
c.191C>T (p.Ala64Val)
n.1992C>T
n.1996C>T
 gnomAD v4
1g.1043950C>ACA415757240AGRNc.1926C>A (p.Ala642=)
c.1611C>A (p.Ala537=)
c.1512C>A (p.Ala504=)
c.1053C>A (p.Ala351=)
c.192C>A (p.Ala64=)
n.1993C>A
n.1997C>A
 gnomAD v4
1g.1043950C=CA1148773118AGRNc.1926C= (p.Ala642=)
c.1611C= (p.Ala537=)
c.1512C= (p.Ala504=)
c.1053C= (p.Ala351=)
c.192C= (p.Ala64=)
n.1993C=
n.1997C=
1g.1043950C>GCA415757241AGRNc.1926C>G (p.Ala642=)
c.1611C>G (p.Ala537=)
c.1512C>G (p.Ala504=)
c.1053C>G (p.Ala351=)
c.192C>G (p.Ala64=)
n.1993C>G
n.1997C>G
 gnomAD v3 gnomAD v4
1g.1043950C>TCA415757243AGRNc.1926C>T (p.Ala642=)
c.1611C>T (p.Ala537=)
c.1512C>T (p.Ala504=)
c.1053C>T (p.Ala351=)
c.192C>T (p.Ala64=)
n.1993C>T
n.1997C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1043951T>ACA337835288AGRNc.1927T>A (p.Cys643Ser)
c.1612T>A (p.Cys538Ser)
c.1513T>A (p.Cys505Ser)
c.1054T>A (p.Cys352Ser)
c.193T>A (p.Cys65Ser)
n.1994T>A
n.1998T>A
1g.1043951T>CCA337835290AGRNc.1927T>C (p.Cys643Arg)
c.1612T>C (p.Cys538Arg)
c.1513T>C (p.Cys505Arg)
c.1054T>C (p.Cys352Arg)
c.193T>C (p.Cys65Arg)
n.1994T>C
n.1998T>C
 gnomAD v4
1g.1043951T>GCA337835292AGRNc.1927T>G (p.Cys643Gly)
c.1612T>G (p.Cys538Gly)
c.1513T>G (p.Cys505Gly)
c.1054T>G (p.Cys352Gly)
c.193T>G (p.Cys65Gly)
n.1994T>G
n.1998T>G
1g.1043952G>ACA337835294AGRNc.1928G>A (p.Cys643Tyr)
c.1613G>A (p.Cys538Tyr)
c.1514G>A (p.Cys505Tyr)
c.1055G>A (p.Cys352Tyr)
c.194G>A (p.Cys65Tyr)
n.1995G>A
n.1999G>A
 gnomAD v4
1g.1043952G>CCA337835297AGRNc.1928G>C (p.Cys643Ser)
c.1613G>C (p.Cys538Ser)
c.1514G>C (p.Cys505Ser)
c.1055G>C (p.Cys352Ser)
c.194G>C (p.Cys65Ser)
n.1995G>C
n.1999G>C
 dbSNP gnomAD v4
1g.1043952G=CA1148773124AGRNc.1928G= (p.Cys643=)
c.1613G= (p.Cys538=)
c.1514G= (p.Cys505=)
c.1055G= (p.Cys352=)
c.194G= (p.Cys65=)
n.1995G=
n.1999G=
1g.1043952G>TCA337835300AGRNc.1928G>T (p.Cys643Phe)
c.1613G>T (p.Cys538Phe)
c.1514G>T (p.Cys505Phe)
c.1055G>T (p.Cys352Phe)
c.194G>T (p.Cys65Phe)
n.1995G>T
n.1999G>T
1g.1043953C>ACA337835307AGRNc.1929C>A (p.Cys643Ter)
c.1614C>A (p.Cys538Ter)
c.1515C>A (p.Cys505Ter)
c.1056C>A (p.Cys352Ter)
c.195C>A (p.Cys65Ter)
n.1996C>A
n.2000C>A
 gnomAD v4
1g.1043953C=CA1143786653AGRNc.1929C= (p.Cys643=)
c.1614C= (p.Cys538=)
c.1515C= (p.Cys505=)
c.1056C= (p.Cys352=)
c.195C= (p.Cys65=)
n.1996C=
n.2000C=
1g.1043953C>GCA337835304AGRNc.1929C>G (p.Cys643Trp)
c.1614C>G (p.Cys538Trp)
c.1515C>G (p.Cys505Trp)
c.1056C>G (p.Cys352Trp)
c.195C>G (p.Cys65Trp)
n.1996C>G
n.2000C>G
1g.1043953C>TCA508382AGRNc.1929C>T (p.Cys643=)
c.1614C>T (p.Cys538=)
c.1515C>T (p.Cys505=)
c.1056C>T (p.Cys352=)
c.195C>T (p.Cys65=)
n.1996C>T
n.2000C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043954G>ACA508383AGRNc.1930G>A (p.Glu644Lys)
c.1615G>A (p.Glu539Lys)
c.1516G>A (p.Glu506Lys)
c.1057G>A (p.Glu353Lys)
c.196G>A (p.Glu66Lys)
n.1997G>A
n.2001G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1043954G>CCA337835311AGRNc.1930G>C (p.Glu644Gln)
c.1615G>C (p.Glu539Gln)
c.1516G>C (p.Glu506Gln)
c.1057G>C (p.Glu353Gln)
c.196G>C (p.Glu66Gln)
n.1997G>C
n.2001G>C
1g.1043954G=CA1148773130AGRNc.1930G= (p.Glu644=)
c.1615G= (p.Glu539=)
c.1516G= (p.Glu506=)
c.1057G= (p.Glu353=)
c.196G= (p.Glu66=)
n.1997G=
n.2001G=
1g.1043954G>TCA337835314AGRNc.1930G>T (p.Glu644Ter)
c.1615G>T (p.Glu539Ter)
c.1516G>T (p.Glu506Ter)
c.1057G>T (p.Glu353Ter)
c.196G>T (p.Glu66Ter)
n.1997G>T
n.2001G>T
 gnomAD v4
1g.1043955A>CCA337835337AGRNc.1931A>C (p.Glu644Ala)
c.1616A>C (p.Glu539Ala)
c.1517A>C (p.Glu506Ala)
c.1058A>C (p.Glu353Ala)
c.197A>C (p.Glu66Ala)
n.1998A>C
n.2002A>C
1g.1043955A>GCA337835338AGRNc.1931A>G (p.Glu644Gly)
c.1616A>G (p.Glu539Gly)
c.1517A>G (p.Glu506Gly)
c.1058A>G (p.Glu353Gly)
c.197A>G (p.Glu66Gly)
n.1998A>G
n.2002A>G
1g.1043955A>TCA337835339AGRNc.1931A>T (p.Glu644Val)
c.1616A>T (p.Glu539Val)
c.1517A>T (p.Glu506Val)
c.1058A>T (p.Glu353Val)
c.197A>T (p.Glu66Val)
n.1998A>T
n.2002A>T
1g.1043956G>ACA415757254AGRNc.1932G>A (p.Glu644=)
c.1617G>A (p.Glu539=)
c.1518G>A (p.Glu506=)
c.1059G>A (p.Glu353=)
c.198G>A (p.Glu66=)
n.1999G>A
n.2003G>A
 ClinVar dbSNP
1g.1043956G>CCA337835340AGRNc.1932G>C (p.Glu644Asp)
c.1617G>C (p.Glu539Asp)
c.1518G>C (p.Glu506Asp)
c.1059G>C (p.Glu353Asp)
c.198G>C (p.Glu66Asp)
n.1999G>C
n.2003G>C
 gnomAD v4
1g.1043956G=CA1148773209AGRNc.1932G= (p.Glu644=)
c.1617G= (p.Glu539=)
c.1518G= (p.Glu506=)
c.1059G= (p.Glu353=)
c.198G= (p.Glu66=)
n.1999G=
n.2003G=
1g.1043956G>TCA337835341AGRNc.1932G>T (p.Glu644Asp)
c.1617G>T (p.Glu539Asp)
c.1518G>T (p.Glu506Asp)
c.1059G>T (p.Glu353Asp)
c.198G>T (p.Glu66Asp)
n.1999G>T
n.2003G>T
1g.1043957C>ACA337835342AGRNc.1933C>A (p.Leu645Ile)
c.1618C>A (p.Leu540Ile)
c.1519C>A (p.Leu507Ile)
c.1060C>A (p.Leu354Ile)
c.199C>A (p.Leu67Ile)
n.2000C>A
n.2004C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1043957C=CA1148773215AGRNc.1933C= (p.Leu645=)
c.1618C= (p.Leu540=)
c.1519C= (p.Leu507=)
c.1060C= (p.Leu354=)
c.199C= (p.Leu67=)
n.2000C=
n.2004C=
1g.1043957C>GCA337835343AGRNc.1933C>G (p.Leu645Val)
c.1618C>G (p.Leu540Val)
c.1519C>G (p.Leu507Val)
c.1060C>G (p.Leu354Val)
c.199C>G (p.Leu67Val)
n.2000C>G
n.2004C>G
1g.1043957C>TCA415757258AGRNc.1933C>T (p.Leu645=)
c.1618C>T (p.Leu540=)
c.1519C>T (p.Leu507=)
c.1060C>T (p.Leu354=)
c.199C>T (p.Leu67=)
n.2000C>T
n.2004C>T
 gnomAD v4
1g.1043958T>ACA337835345AGRNc.1934T>A (p.Leu645Gln)
c.1619T>A (p.Leu540Gln)
c.1520T>A (p.Leu507Gln)
c.1061T>A (p.Leu354Gln)
c.200T>A (p.Leu67Gln)
n.2001T>A
n.2005T>A
 gnomAD v4
1g.1043958T>CCA337835347AGRNc.1934T>C (p.Leu645Pro)
c.1619T>C (p.Leu540Pro)
c.1520T>C (p.Leu507Pro)
c.1061T>C (p.Leu354Pro)
c.200T>C (p.Leu67Pro)
n.2001T>C
n.2005T>C
1g.1043958T>GCA337835349AGRNc.1934T>G (p.Leu645Arg)
c.1619T>G (p.Leu540Arg)
c.1520T>G (p.Leu507Arg)
c.1061T>G (p.Leu354Arg)
c.200T>G (p.Leu67Arg)
n.2001T>G
n.2005T>G
1g.1043959A>CCA415757260AGRNc.1935A>C (p.Leu645=)
c.1620A>C (p.Leu540=)
c.1521A>C (p.Leu507=)
c.1062A>C (p.Leu354=)
c.201A>C (p.Leu67=)
n.2002A>C
n.2006A>C
1g.1043959A>GCA415757262AGRNc.1935A>G (p.Leu645=)
c.1620A>G (p.Leu540=)
c.1521A>G (p.Leu507=)
c.1062A>G (p.Leu354=)
c.201A>G (p.Leu67=)
n.2002A>G
n.2006A>G
1g.1043959A>TCA415757263AGRNc.1935A>T (p.Leu645=)
c.1620A>T (p.Leu540=)
c.1521A>T (p.Leu507=)
c.1062A>T (p.Leu354=)
c.201A>T (p.Leu67=)
n.2002A>T
n.2006A>T
1g.1043960C>ACA415757265AGRNc.1936C>A (p.Arg646=)
c.1621C>A (p.Arg541=)
c.1522C>A (p.Arg508=)
c.1063C>A (p.Arg355=)
c.202C>A (p.Arg68=)
n.2003C>A
n.2007C>A
1g.1043960C=CA1143908216AGRNc.1936C= (p.Arg646=)
c.1621C= (p.Arg541=)
c.1522C= (p.Arg508=)
c.1063C= (p.Arg355=)
c.202C= (p.Arg68=)
n.2003C=
n.2007C=
1g.1043960C>GCA337835350AGRNc.1936C>G (p.Arg646Gly)
c.1621C>G (p.Arg541Gly)
c.1522C>G (p.Arg508Gly)
c.1063C>G (p.Arg355Gly)
c.202C>G (p.Arg68Gly)
n.2003C>G
n.2007C>G
1g.1043960C>TCA508384AGRNc.1936C>T (p.Arg646Trp)
c.1621C>T (p.Arg541Trp)
c.1522C>T (p.Arg508Trp)
c.1063C>T (p.Arg355Trp)
c.202C>T (p.Arg68Trp)
n.2003C>T
n.2007C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043961G>ACA508385AGRNc.1937G>A (p.Arg646Gln)
c.1622G>A (p.Arg541Gln)
c.1523G>A (p.Arg508Gln)
c.1064G>A (p.Arg355Gln)
c.203G>A (p.Arg68Gln)
n.2004G>A
n.2008G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043961G>CCA337835351AGRNc.1937G>C (p.Arg646Pro)
c.1622G>C (p.Arg541Pro)
c.1523G>C (p.Arg508Pro)
c.1064G>C (p.Arg355Pro)
c.203G>C (p.Arg68Pro)
n.2004G>C
n.2008G>C
1g.1043961G=CA1148773222AGRNc.1937G= (p.Arg646=)
c.1622G= (p.Arg541=)
c.1523G= (p.Arg508=)
c.1064G= (p.Arg355=)
c.203G= (p.Arg68=)
n.2004G=
n.2008G=
1g.1043961G>TCA337835352AGRNc.1937G>T (p.Arg646Leu)
c.1622G>T (p.Arg541Leu)
c.1523G>T (p.Arg508Leu)
c.1064G>T (p.Arg355Leu)
c.203G>T (p.Arg68Leu)
n.2004G>T
n.2008G>T
 dbSNP
1g.1043963delCA2642490914AGRNc.1939del (p.Glu647LysfsTer?)
c.1624del (p.Glu542LysfsTer?)
c.1525del (p.Glu509LysfsTer?)
c.1066del (p.Glu356LysfsTer?)
c.205del (p.Glu69LysfsTer?)
n.2006del
n.2010del
 gnomAD v4
1g.1043962G>ACA415757268AGRNc.1938G>A (p.Arg646=)
c.1623G>A (p.Arg541=)
c.1524G>A (p.Arg508=)
c.1065G>A (p.Arg355=)
c.204G>A (p.Arg68=)
n.2005G>A
n.2009G>A
 gnomAD v4
1g.1043962G>CCA415757269AGRNc.1938G>C (p.Arg646=)
c.1623G>C (p.Arg541=)
c.1524G>C (p.Arg508=)
c.1065G>C (p.Arg355=)
c.204G>C (p.Arg68=)
n.2005G>C
n.2009G>C
1g.1043962G>TCA415757271AGRNc.1938G>T (p.Arg646=)
c.1623G>T (p.Arg541=)
c.1524G>T (p.Arg508=)
c.1065G>T (p.Arg355=)
c.204G>T (p.Arg68=)
n.2005G>T
n.2009G>T
1g.1043963G>ACA337835353AGRNc.1939G>A (p.Glu647Lys)
c.1624G>A (p.Glu542Lys)
c.1525G>A (p.Glu509Lys)
c.1066G>A (p.Glu356Lys)
c.205G>A (p.Glu69Lys)
n.2006G>A
n.2010G>A
 ClinVar dbSNP COSMIC
1g.1043963G>CCA337835354AGRNc.1939G>C (p.Glu647Gln)
c.1624G>C (p.Glu542Gln)
c.1525G>C (p.Glu509Gln)
c.1066G>C (p.Glu356Gln)
c.205G>C (p.Glu69Gln)
n.2006G>C
n.2010G>C
1g.1043963G=CA1148773232AGRNc.1939G= (p.Glu647=)
c.1624G= (p.Glu542=)
c.1525G= (p.Glu509=)
c.1066G= (p.Glu356=)
c.205G= (p.Glu69=)
n.2006G=
n.2010G=
1g.1043963G>TCA337835355AGRNc.1939G>T (p.Glu647Ter)
c.1624G>T (p.Glu542Ter)
c.1525G>T (p.Glu509Ter)
c.1066G>T (p.Glu356Ter)
c.205G>T (p.Glu69Ter)
n.2006G>T
n.2010G>T
1g.1043964A>CCA337835376AGRNc.1940A>C (p.Glu647Ala)
c.1625A>C (p.Glu542Ala)
c.1526A>C (p.Glu509Ala)
c.1067A>C (p.Glu356Ala)
c.206A>C (p.Glu69Ala)
n.2007A>C
n.2011A>C
1g.1043964A>GCA337835356AGRNc.1940A>G (p.Glu647Gly)
c.1625A>G (p.Glu542Gly)
c.1526A>G (p.Glu509Gly)
c.1067A>G (p.Glu356Gly)
c.206A>G (p.Glu69Gly)
n.2007A>G
n.2011A>G
1g.1043964A>TCA337835367AGRNc.1940A>T (p.Glu647Val)
c.1625A>T (p.Glu542Val)
c.1526A>T (p.Glu509Val)
c.1067A>T (p.Glu356Val)
c.206A>T (p.Glu69Val)
n.2007A>T
n.2011A>T
1g.1043965A>CCA337835379AGRNc.1941A>C (p.Glu647Asp)
c.1626A>C (p.Glu542Asp)
c.1527A>C (p.Glu509Asp)
c.1068A>C (p.Glu356Asp)
c.207A>C (p.Glu69Asp)
n.2008A>C
n.2012A>C
1g.1043965A>GCA415757277AGRNc.1941A>G (p.Glu647=)
c.1626A>G (p.Glu542=)
c.1527A>G (p.Glu509=)
c.1068A>G (p.Glu356=)
c.207A>G (p.Glu69=)
n.2008A>G
n.2012A>G
 ClinVar
1g.1043965A>TCA337835380AGRNc.1941A>T (p.Glu647Asp)
c.1626A>T (p.Glu542Asp)
c.1527A>T (p.Glu509Asp)
c.1068A>T (p.Glu356Asp)
c.207A>T (p.Glu69Asp)
n.2008A>T
n.2012A>T
1g.1043966G>ACA337835382AGRNc.1942G>A (p.Ala648Thr)
c.1627G>A (p.Ala543Thr)
c.1528G>A (p.Ala510Thr)
c.1069G>A (p.Ala357Thr)
c.208G>A (p.Ala70Thr)
n.2009G>A
n.2013G>A
1g.1043966G>CCA337835383AGRNc.1942G>C (p.Ala648Pro)
c.1627G>C (p.Ala543Pro)
c.1528G>C (p.Ala510Pro)
c.1069G>C (p.Ala357Pro)
c.208G>C (p.Ala70Pro)
n.2009G>C
n.2013G>C
 dbSNP
1g.1043966G>TCA337835385AGRNc.1942G>T (p.Ala648Ser)
c.1627G>T (p.Ala543Ser)
c.1528G>T (p.Ala510Ser)
c.1069G>T (p.Ala357Ser)
c.208G>T (p.Ala70Ser)
n.2009G>T
n.2013G>T
1g.1043967C>ACA337835387AGRNc.1943C>A (p.Ala648Asp)
c.1628C>A (p.Ala543Asp)
c.1529C>A (p.Ala510Asp)
c.1070C>A (p.Ala357Asp)
c.209C>A (p.Ala70Asp)
n.2010C>A
n.2014C>A
1g.1043967C>GCA337835390AGRNc.1943C>G (p.Ala648Gly)
c.1628C>G (p.Ala543Gly)
c.1529C>G (p.Ala510Gly)
c.1070C>G (p.Ala357Gly)
c.209C>G (p.Ala70Gly)
n.2010C>G
n.2014C>G
1g.1043967C>TCA337835388AGRNc.1943C>T (p.Ala648Val)
c.1628C>T (p.Ala543Val)
c.1529C>T (p.Ala510Val)
c.1070C>T (p.Ala357Val)
c.209C>T (p.Ala70Val)
n.2010C>T
n.2014C>T
 gnomAD v4 COSMIC
1g.1043968C>ACA415757285AGRNc.1944C>A (p.Ala648=)
c.1629C>A (p.Ala543=)
c.1530C>A (p.Ala510=)
c.1071C>A (p.Ala357=)
c.210C>A (p.Ala70=)
n.2011C>A
n.2015C>A
 dbSNP gnomAD v2 gnomAD v4
1g.1043968C=CA1144857356AGRNc.1944C= (p.Ala648=)
c.1629C= (p.Ala543=)
c.1530C= (p.Ala510=)
c.1071C= (p.Ala357=)
c.210C= (p.Ala70=)
n.2011C=
n.2015C=
1g.1043968C>GCA415757287AGRNc.1944C>G (p.Ala648=)
c.1629C>G (p.Ala543=)
c.1530C>G (p.Ala510=)
c.1071C>G (p.Ala357=)
c.210C>G (p.Ala70=)
n.2011C>G
n.2015C>G
 gnomAD v4
1g.1043968C>TCA508386AGRNc.1944C>T (p.Ala648=)
c.1629C>T (p.Ala543=)
c.1530C>T (p.Ala510=)
c.1071C>T (p.Ala357=)
c.210C>T (p.Ala70=)
n.2011C>T
n.2015C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043969G>ACA508387AGRNc.1945G>A (p.Ala649Thr)
c.1630G>A (p.Ala544Thr)
c.1531G>A (p.Ala511Thr)
c.1072G>A (p.Ala358Thr)
c.211G>A (p.Ala71Thr)
n.2012G>A
n.2016G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043969G>CCA337835398AGRNc.1945G>C (p.Ala649Pro)
c.1630G>C (p.Ala544Pro)
c.1531G>C (p.Ala511Pro)
c.1072G>C (p.Ala358Pro)
c.211G>C (p.Ala71Pro)
n.2012G>C
n.2016G>C
1g.1043969G=CA1146364327AGRNc.1945G= (p.Ala649=)
c.1630G= (p.Ala544=)
c.1531G= (p.Ala511=)
c.1072G= (p.Ala358=)
c.211G= (p.Ala71=)
n.2012G=
n.2016G=
1g.1043969G>TCA337835400AGRNc.1945G>T (p.Ala649Ser)
c.1630G>T (p.Ala544Ser)
c.1531G>T (p.Ala511Ser)
c.1072G>T (p.Ala358Ser)
c.211G>T (p.Ala71Ser)
n.2012G>T
n.2016G>T
 gnomAD v4
1g.1043970C>ACA337835402AGRNc.1946C>A (p.Ala649Asp)
c.1631C>A (p.Ala544Asp)
c.1532C>A (p.Ala511Asp)
c.1073C>A (p.Ala358Asp)
c.212C>A (p.Ala71Asp)
n.2013C>A
n.2017C>A
1g.1043970C>GCA337835404AGRNc.1946C>G (p.Ala649Gly)
c.1631C>G (p.Ala544Gly)
c.1532C>G (p.Ala511Gly)
c.1073C>G (p.Ala358Gly)
c.212C>G (p.Ala71Gly)
n.2013C>G
n.2017C>G
1g.1043970C>TCA337835405AGRNc.1946C>T (p.Ala649Val)
c.1631C>T (p.Ala544Val)
c.1532C>T (p.Ala511Val)
c.1073C>T (p.Ala358Val)
c.212C>T (p.Ala71Val)
n.2013C>T
n.2017C>T
1g.1043971C>ACA415756946AGRNc.1947C>A (p.Ala649=)
c.1632C>A (p.Ala544=)
c.1533C>A (p.Ala511=)
c.1074C>A (p.Ala358=)
c.213C>A (p.Ala71=)
n.2014C>A
n.2018C>A
1g.1043971C=CA1148773244AGRNc.1947C= (p.Ala649=)
c.1632C= (p.Ala544=)
c.1533C= (p.Ala511=)
c.1074C= (p.Ala358=)
c.213C= (p.Ala71=)
n.2014C=
n.2018C=
1g.1043971C>GCA415756952AGRNc.1947C>G (p.Ala649=)
c.1632C>G (p.Ala544=)
c.1533C>G (p.Ala511=)
c.1074C>G (p.Ala358=)
c.213C>G (p.Ala71=)
n.2014C>G
n.2018C>G
1g.1043971C>TCA415756954AGRNc.1947C>T (p.Ala649=)
c.1632C>T (p.Ala544=)
c.1533C>T (p.Ala511=)
c.1074C>T (p.Ala358=)
c.213C>T (p.Ala71=)
n.2014C>T
n.2018C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1043972T>ACA337835407AGRNc.1948T>A (p.Cys650Ser)
c.1633T>A (p.Cys545Ser)
c.1534T>A (p.Cys512Ser)
c.1075T>A (p.Cys359Ser)
c.214T>A (p.Cys72Ser)
n.2015T>A
n.2019T>A
1g.1043972T>CCA337835409AGRNc.1948T>C (p.Cys650Arg)
c.1633T>C (p.Cys545Arg)
c.1534T>C (p.Cys512Arg)
c.1075T>C (p.Cys359Arg)
c.214T>C (p.Cys72Arg)
n.2015T>C
n.2019T>C
1g.1043972T>GCA337835411AGRNc.1948T>G (p.Cys650Gly)
c.1633T>G (p.Cys545Gly)
c.1534T>G (p.Cys512Gly)
c.1075T>G (p.Cys359Gly)
c.214T>G (p.Cys72Gly)
n.2015T>G
n.2019T>G
1g.1043973G>ACA337835412AGRNc.1949G>A (p.Cys650Tyr)
c.1634G>A (p.Cys545Tyr)
c.1535G>A (p.Cys512Tyr)
c.1076G>A (p.Cys359Tyr)
c.215G>A (p.Cys72Tyr)
n.2016G>A
n.2020G>A
1g.1043973G>CCA337835434AGRNc.1949G>C (p.Cys650Ser)
c.1634G>C (p.Cys545Ser)
c.1535G>C (p.Cys512Ser)
c.1076G>C (p.Cys359Ser)
c.215G>C (p.Cys72Ser)
n.2016G>C
n.2020G>C
1g.1043973G>TCA337835431AGRNc.1949G>T (p.Cys650Phe)
c.1634G>T (p.Cys545Phe)
c.1535G>T (p.Cys512Phe)
c.1076G>T (p.Cys359Phe)
c.215G>T (p.Cys72Phe)
n.2016G>T
n.2020G>T
 gnomAD v4 COSMIC
1g.1043974C>ACA337835436AGRNc.1950C>A (p.Cys650Ter)
c.1635C>A (p.Cys545Ter)
c.1536C>A (p.Cys512Ter)
c.1077C>A (p.Cys359Ter)
c.216C>A (p.Cys72Ter)
n.2017C>A
n.2021C>A
1g.1043974C>GCA337835438AGRNc.1950C>G (p.Cys650Trp)
c.1635C>G (p.Cys545Trp)
c.1536C>G (p.Cys512Trp)
c.1077C>G (p.Cys359Trp)
c.216C>G (p.Cys72Trp)
n.2017C>G
n.2021C>G
1g.1043974C>TCA415756956AGRNc.1950C>T (p.Cys650=)
c.1635C>T (p.Cys545=)
c.1536C>T (p.Cys512=)
c.1077C>T (p.Cys359=)
c.216C>T (p.Cys72=)
n.2017C>T
n.2021C>T
1g.1043975C>ACA337835442AGRNc.1951C>A (p.Leu651Ile)
c.1636C>A (p.Leu546Ile)
c.1537C>A (p.Leu513Ile)
c.1078C>A (p.Leu360Ile)
c.217C>A (p.Leu73Ile)
n.2018C>A
n.2022C>A
1g.1043975C=CA1148773313AGRNc.1951C= (p.Leu651=)
c.1636C= (p.Leu546=)
c.1537C= (p.Leu513=)
c.1078C= (p.Leu360=)
c.217C= (p.Leu73=)
n.2018C=
n.2022C=
1g.1043975C>GCA508388AGRNc.1951C>G (p.Leu651Val)
c.1636C>G (p.Leu546Val)
c.1537C>G (p.Leu513Val)
c.1078C>G (p.Leu360Val)
c.217C>G (p.Leu73Val)
n.2018C>G
n.2022C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1043975C>TCA508389AGRNc.1951C>T (p.Leu651Phe)
c.1636C>T (p.Leu546Phe)
c.1537C>T (p.Leu513Phe)
c.1078C>T (p.Leu360Phe)
c.217C>T (p.Leu73Phe)
n.2018C>T
n.2022C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043976T>ACA337835445AGRNc.1952T>A (p.Leu651His)
c.1637T>A (p.Leu546His)
c.1538T>A (p.Leu513His)
c.1079T>A (p.Leu360His)
c.218T>A (p.Leu73His)
n.2019T>A
n.2023T>A
1g.1043976T>CCA337835446AGRNc.1952T>C (p.Leu651Pro)
c.1637T>C (p.Leu546Pro)
c.1538T>C (p.Leu513Pro)
c.1079T>C (p.Leu360Pro)
c.218T>C (p.Leu73Pro)
n.2019T>C
n.2023T>C
1g.1043976T>GCA337835447AGRNc.1952T>G (p.Leu651Arg)
c.1637T>G (p.Leu546Arg)
c.1538T>G (p.Leu513Arg)
c.1079T>G (p.Leu360Arg)
c.218T>G (p.Leu73Arg)
n.2019T>G
n.2023T>G
1g.1043977C>ACA415756969AGRNc.1953C>A (p.Leu651=)
c.1638C>A (p.Leu546=)
c.1539C>A (p.Leu513=)
c.1080C>A (p.Leu360=)
c.219C>A (p.Leu73=)
n.2020C>A
n.2024C>A
 COSMIC
1g.1043977C>GCA415756971AGRNc.1953C>G (p.Leu651=)
c.1638C>G (p.Leu546=)
c.1539C>G (p.Leu513=)
c.1080C>G (p.Leu360=)
c.219C>G (p.Leu73=)
n.2020C>G
n.2024C>G
 gnomAD v4
1g.1043977C>TCA415756972AGRNc.1953C>T (p.Leu651=)
c.1638C>T (p.Leu546=)
c.1539C>T (p.Leu513=)
c.1080C>T (p.Leu360=)
c.219C>T (p.Leu73=)
n.2020C>T
n.2024C>T
1g.1043978C>ACA337835448AGRNc.1954C>A (p.Gln652Lys)
c.1639C>A (p.Gln547Lys)
c.1540C>A (p.Gln514Lys)
c.1081C>A (p.Gln361Lys)
c.220C>A (p.Gln74Lys)
n.2021C>A
n.2025C>A
1g.1043978C=CA1148773333AGRNc.1954C= (p.Gln652=)
c.1639C= (p.Gln547=)
c.1540C= (p.Gln514=)
c.1081C= (p.Gln361=)
c.220C= (p.Gln74=)
n.2021C=
n.2025C=
1g.1043978C>GCA337835449AGRNc.1954C>G (p.Gln652Glu)
c.1639C>G (p.Gln547Glu)
c.1540C>G (p.Gln514Glu)
c.1081C>G (p.Gln361Glu)
c.220C>G (p.Gln74Glu)
n.2021C>G
n.2025C>G
1g.1043978C>TCA337835450AGRNc.1954C>T (p.Gln652Ter)
c.1639C>T (p.Gln547Ter)
c.1540C>T (p.Gln514Ter)
c.1081C>T (p.Gln361Ter)
c.220C>T (p.Gln74Ter)
n.2021C>T
n.2025C>T
 gnomAD v4
1g.1043979A>CCA337835452AGRNc.1955A>C (p.Gln652Pro)
c.1640A>C (p.Gln547Pro)
c.1541A>C (p.Gln514Pro)
c.1082A>C (p.Gln361Pro)
c.221A>C (p.Gln74Pro)
n.2022A>C
n.2026A>C
1g.1043979A>GCA337835455AGRNc.1955A>G (p.Gln652Arg)
c.1640A>G (p.Gln547Arg)
c.1541A>G (p.Gln514Arg)
c.1082A>G (p.Gln361Arg)
c.221A>G (p.Gln74Arg)
n.2022A>G
n.2026A>G
1g.1043979A>TCA337835463AGRNc.1955A>T (p.Gln652Leu)
c.1640A>T (p.Gln547Leu)
c.1541A>T (p.Gln514Leu)
c.1082A>T (p.Gln361Leu)
c.221A>T (p.Gln74Leu)
n.2022A>T
n.2026A>T
1g.1043984_1044022dupCA508390AGRNc.1960_1998dup (p.Gln666_Ala667insThrGlnIleGluGluAlaArgAlaGlyProCysGluGln)
c.1645_1683dup (p.Gln561_Ala562insThrGlnIleGluGluAlaArgAlaGlyProCysGluGln)
c.1546_1584dup (p.Gln528_Ala529insThrGlnIleGluGluAlaArgAlaGlyProCysGluGln)
c.1087_1125dup (p.Gln375_Ala376insThrGlnIleGluGluAlaArgAlaGlyProCysGluGln)
c.226_264dup (p.Gln88_Ala89insThrGlnIleGluGluAlaArgAlaGlyProCysGluGln)
n.2027_2065dup
n.2031_2069dup
 dbSNP ExAC gnomAD v2
1g.1043980G>ACA415756977AGRNc.1956G>A (p.Gln652=)
c.1641G>A (p.Gln547=)
c.1542G>A (p.Gln514=)
c.1083G>A (p.Gln361=)
c.222G>A (p.Gln74=)
n.2023G>A
n.2027G>A
 dbSNP gnomAD v2
1g.1043980G>CCA337835465AGRNc.1956G>C (p.Gln652His)
c.1641G>C (p.Gln547His)
c.1542G>C (p.Gln514His)
c.1083G>C (p.Gln361His)
c.222G>C (p.Gln74His)
n.2023G>C
n.2027G>C
1g.1043980G=CA1148773341AGRNc.1956G= (p.Gln652=)
c.1641G= (p.Gln547=)
c.1542G= (p.Gln514=)
c.1083G= (p.Gln361=)
c.222G= (p.Gln74=)
n.2023G=
n.2027G=
1g.1043980G>TCA337835464AGRNc.1956G>T (p.Gln652His)
c.1641G>T (p.Gln547His)
c.1542G>T (p.Gln514His)
c.1083G>T (p.Gln361His)
c.222G>T (p.Gln74His)
n.2023G>T
n.2027G>T
 gnomAD v4
1g.1043981C>ACA337835466AGRNc.1957C>A (p.Gln653Lys)
c.1642C>A (p.Gln548Lys)
c.1543C>A (p.Gln515Lys)
c.1084C>A (p.Gln362Lys)
c.223C>A (p.Gln75Lys)
n.2024C>A
n.2028C>A
 gnomAD v4
1g.1043981C>GCA337835467AGRNc.1957C>G (p.Gln653Glu)
c.1642C>G (p.Gln548Glu)
c.1543C>G (p.Gln515Glu)
c.1084C>G (p.Gln362Glu)
c.223C>G (p.Gln75Glu)
n.2024C>G
n.2028C>G
1g.1043981C>TCA337835485AGRNc.1957C>T (p.Gln653Ter)
c.1642C>T (p.Gln548Ter)
c.1543C>T (p.Gln515Ter)
c.1084C>T (p.Gln362Ter)
c.223C>T (p.Gln75Ter)
n.2024C>T
n.2028C>T
 gnomAD v4
1g.1043982A>CCA337835496AGRNc.1958A>C (p.Gln653Pro)
c.1643A>C (p.Gln548Pro)
c.1544A>C (p.Gln515Pro)
c.1085A>C (p.Gln362Pro)
c.224A>C (p.Gln75Pro)
n.2025A>C
n.2029A>C
1g.1043982A>GCA337835497AGRNc.1958A>G (p.Gln653Arg)
c.1643A>G (p.Gln548Arg)
c.1544A>G (p.Gln515Arg)
c.1085A>G (p.Gln362Arg)
c.224A>G (p.Gln75Arg)
n.2025A>G
n.2029A>G
1g.1043982A>TCA337835498AGRNc.1958A>T (p.Gln653Leu)
c.1643A>T (p.Gln548Leu)
c.1544A>T (p.Gln515Leu)
c.1085A>T (p.Gln362Leu)
c.224A>T (p.Gln75Leu)
n.2025A>T
n.2029A>T
1g.1043983G>ACA415756985AGRNc.1959G>A (p.Gln653=)
c.1644G>A (p.Gln548=)
c.1545G>A (p.Gln515=)
c.1086G>A (p.Gln362=)
c.225G>A (p.Gln75=)
n.2026G>A
n.2030G>A
1g.1043983G>CCA337835501AGRNc.1959G>C (p.Gln653His)
c.1644G>C (p.Gln548His)
c.1545G>C (p.Gln515His)
c.1086G>C (p.Gln362His)
c.225G>C (p.Gln75His)
n.2026G>C
n.2030G>C
1g.1043983G>TCA337835502AGRNc.1959G>T (p.Gln653His)
c.1644G>T (p.Gln548His)
c.1545G>T (p.Gln515His)
c.1086G>T (p.Gln362His)
c.225G>T (p.Gln75His)
n.2026G>T
n.2030G>T
 gnomAD v4
1g.1043984A>CCA337835503AGRNc.1960A>C (p.Thr654Pro)
c.1645A>C (p.Thr549Pro)
c.1546A>C (p.Thr516Pro)
c.1087A>C (p.Thr363Pro)
c.226A>C (p.Thr76Pro)
n.2027A>C
n.2031A>C
1g.1043984A>GCA337835505AGRNc.1960A>G (p.Thr654Ala)
c.1645A>G (p.Thr549Ala)
c.1546A>G (p.Thr516Ala)
c.1087A>G (p.Thr363Ala)
c.226A>G (p.Thr76Ala)
n.2027A>G
n.2031A>G
 gnomAD v4
1g.1043984A>TCA337835508AGRNc.1960A>T (p.Thr654Ser)
c.1645A>T (p.Thr549Ser)
c.1546A>T (p.Thr516Ser)
c.1087A>T (p.Thr363Ser)
c.226A>T (p.Thr76Ser)
n.2027A>T
n.2031A>T
1g.1043985C>ACA337835511AGRNc.1961C>A (p.Thr654Lys)
c.1646C>A (p.Thr549Lys)
c.1547C>A (p.Thr516Lys)
c.1088C>A (p.Thr363Lys)
c.227C>A (p.Thr76Lys)
n.2028C>A
n.2032C>A
1g.1043985C=CA1142708299AGRNc.1961C= (p.Thr654=)
c.1646C= (p.Thr549=)
c.1547C= (p.Thr516=)
c.1088C= (p.Thr363=)
c.227C= (p.Thr76=)
n.2028C=
n.2032C=
1g.1043985C>GCA337835513AGRNc.1961C>G (p.Thr654Arg)
c.1646C>G (p.Thr549Arg)
c.1547C>G (p.Thr516Arg)
c.1088C>G (p.Thr363Arg)
c.227C>G (p.Thr76Arg)
n.2028C>G
n.2032C>G
 gnomAD v4
1g.1043985C>TCA508391AGRNc.1961C>T (p.Thr654Ile)
c.1646C>T (p.Thr549Ile)
c.1547C>T (p.Thr516Ile)
c.1088C>T (p.Thr363Ile)
c.227C>T (p.Thr76Ile)
n.2028C>T
n.2032C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043986A=CA1148773349AGRNc.1962A= (p.Thr654=)
c.1647A= (p.Thr549=)
c.1548A= (p.Thr516=)
c.1089A= (p.Thr363=)
c.228A= (p.Thr76=)
n.2029A=
n.2033A=
1g.1043986A>CCA415756987AGRNc.1962A>C (p.Thr654=)
c.1647A>C (p.Thr549=)
c.1548A>C (p.Thr516=)
c.1089A>C (p.Thr363=)
c.228A>C (p.Thr76=)
n.2029A>C
n.2033A>C
1g.1043986A>GCA508392AGRNc.1962A>G (p.Thr654=)
c.1647A>G (p.Thr549=)
c.1548A>G (p.Thr516=)
c.1089A>G (p.Thr363=)
c.228A>G (p.Thr76=)
n.2029A>G
n.2033A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
1g.1043986A>TCA415756988AGRNc.1962A>T (p.Thr654=)
c.1647A>T (p.Thr549=)
c.1548A>T (p.Thr516=)
c.1089A>T (p.Thr363=)
c.228A>T (p.Thr76=)
n.2029A>T
n.2033A>T
1g.1043987C>ACA337835517AGRNc.1963C>A (p.Gln655Lys)
c.1648C>A (p.Gln550Lys)
c.1549C>A (p.Gln517Lys)
c.1090C>A (p.Gln364Lys)
c.229C>A (p.Gln77Lys)
n.2030C>A
n.2034C>A
1g.1043987C=CA1148773371AGRNc.1963C= (p.Gln655=)
c.1648C= (p.Gln550=)
c.1549C= (p.Gln517=)
c.1090C= (p.Gln364=)
c.229C= (p.Gln77=)
n.2030C=
n.2034C=
1g.1043987C>GCA508393AGRNc.1963C>G (p.Gln655Glu)
c.1648C>G (p.Gln550Glu)
c.1549C>G (p.Gln517Glu)
c.1090C>G (p.Gln364Glu)
c.229C>G (p.Gln77Glu)
n.2030C>G
n.2034C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1043987C>TCA337835520AGRNc.1963C>T (p.Gln655Ter)
c.1648C>T (p.Gln550Ter)
c.1549C>T (p.Gln517Ter)
c.1090C>T (p.Gln364Ter)
c.229C>T (p.Gln77Ter)
n.2030C>T
n.2034C>T
 gnomAD v4
1g.1043988A>CCA337835521AGRNc.1964A>C (p.Gln655Pro)
c.1649A>C (p.Gln550Pro)
c.1550A>C (p.Gln517Pro)
c.1091A>C (p.Gln364Pro)
c.230A>C (p.Gln77Pro)
n.2031A>C
n.2035A>C
1g.1043988A>GCA337835523AGRNc.1964A>G (p.Gln655Arg)
c.1649A>G (p.Gln550Arg)
c.1550A>G (p.Gln517Arg)
c.1091A>G (p.Gln364Arg)
c.230A>G (p.Gln77Arg)
n.2031A>G
n.2035A>G
1g.1043988A>TCA337835525AGRNc.1964A>T (p.Gln655Leu)
c.1649A>T (p.Gln550Leu)
c.1550A>T (p.Gln517Leu)
c.1091A>T (p.Gln364Leu)
c.230A>T (p.Gln77Leu)
n.2031A>T
n.2035A>T
1g.1043989G>ACA16754585AGRNc.1965G>A (p.Gln655=)
c.1650G>A (p.Gln550=)
c.1551G>A (p.Gln517=)
c.1092G>A (p.Gln364=)
c.231G>A (p.Gln77=)
n.2032G>A
n.2036G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1043989G>CCA508394AGRNc.1965G>C (p.Gln655His)
c.1650G>C (p.Gln550His)
c.1551G>C (p.Gln517His)
c.1092G>C (p.Gln364His)
c.231G>C (p.Gln77His)
n.2032G>C
n.2036G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1043989G=CA1148464415AGRNc.1965G= (p.Gln655=)
c.1650G= (p.Gln550=)
c.1551G= (p.Gln517=)
c.1092G= (p.Gln364=)
c.231G= (p.Gln77=)
n.2032G=
n.2036G=
1g.1043989G>TCA337835529AGRNc.1965G>T (p.Gln655His)
c.1650G>T (p.Gln550His)
c.1551G>T (p.Gln517His)
c.1092G>T (p.Gln364His)
c.231G>T (p.Gln77His)
n.2032G>T
n.2036G>T
1g.1043990A=CA1148773385AGRNc.1966A= (p.Ile656=)
c.1651A= (p.Ile551=)
c.1552A= (p.Ile518=)
c.1093A= (p.Ile365=)
c.232A= (p.Ile78=)
n.2033A=
n.2037A=
1g.1043990A>CCA337835530AGRNc.1966A>C (p.Ile656Leu)
c.1651A>C (p.Ile551Leu)
c.1552A>C (p.Ile518Leu)
c.1093A>C (p.Ile365Leu)
c.232A>C (p.Ile78Leu)
n.2033A>C
n.2037A>C
 dbSNP gnomAD v3 gnomAD v4
1g.1043990A>GCA337835575AGRNc.1966A>G (p.Ile656Val)
c.1651A>G (p.Ile551Val)
c.1552A>G (p.Ile518Val)
c.1093A>G (p.Ile365Val)
c.232A>G (p.Ile78Val)
n.2033A>G
n.2037A>G
1g.1043990A>TCA337835577AGRNc.1966A>T (p.Ile656Phe)
c.1651A>T (p.Ile551Phe)
c.1552A>T (p.Ile518Phe)
c.1093A>T (p.Ile365Phe)
c.232A>T (p.Ile78Phe)
n.2033A>T
n.2037A>T
 gnomAD v4
1g.1043991T>ACA337835582AGRNc.1967T>A (p.Ile656Asn)
c.1652T>A (p.Ile551Asn)
c.1553T>A (p.Ile518Asn)
c.1094T>A (p.Ile365Asn)
c.233T>A (p.Ile78Asn)
n.2034T>A
n.2038T>A
1g.1043991T>CCA337835579AGRNc.1967T>C (p.Ile656Thr)
c.1652T>C (p.Ile551Thr)
c.1553T>C (p.Ile518Thr)
c.1094T>C (p.Ile365Thr)
c.233T>C (p.Ile78Thr)
n.2034T>C
n.2038T>C
1g.1043991T>GCA337835581AGRNc.1967T>G (p.Ile656Ser)
c.1652T>G (p.Ile551Ser)
c.1553T>G (p.Ile518Ser)
c.1094T>G (p.Ile365Ser)
c.233T>G (p.Ile78Ser)
n.2034T>G
n.2038T>G
1g.1043992C>ACA415757006AGRNc.1968C>A (p.Ile656=)
c.1653C>A (p.Ile551=)
c.1554C>A (p.Ile518=)
c.1095C>A (p.Ile365=)
c.234C>A (p.Ile78=)
n.2035C>A
n.2039C>A
 ClinVar dbSNP
1g.1043992C=CA1148773409AGRNc.1968C= (p.Ile656=)
c.1653C= (p.Ile551=)
c.1554C= (p.Ile518=)
c.1095C= (p.Ile365=)
c.234C= (p.Ile78=)
n.2035C=
n.2039C=
1g.1043992C>GCA508395AGRNc.1968C>G (p.Ile656Met)
c.1653C>G (p.Ile551Met)
c.1554C>G (p.Ile518Met)
c.1095C>G (p.Ile365Met)
c.234C>G (p.Ile78Met)
n.2035C>G
n.2039C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1043992C>TCA508396AGRNc.1968C>T (p.Ile656=)
c.1653C>T (p.Ile551=)
c.1554C>T (p.Ile518=)
c.1095C>T (p.Ile365=)
c.234C>T (p.Ile78=)
n.2035C>T
n.2039C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043993G>ACA508397AGRNc.1969G>A (p.Glu657Lys)
c.1654G>A (p.Glu552Lys)
c.1555G>A (p.Glu519Lys)
c.1096G>A (p.Glu366Lys)
c.235G>A (p.Glu79Lys)
n.2036G>A
n.2040G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1043993G>CCA337835585AGRNc.1969G>C (p.Glu657Gln)
c.1654G>C (p.Glu552Gln)
c.1555G>C (p.Glu519Gln)
c.1096G>C (p.Glu366Gln)
c.235G>C (p.Glu79Gln)
n.2036G>C
n.2040G>C
1g.1043993G=CA1144200592AGRNc.1969G= (p.Glu657=)
c.1654G= (p.Glu552=)
c.1555G= (p.Glu519=)
c.1096G= (p.Glu366=)
c.235G= (p.Glu79=)
n.2036G=
n.2040G=
1g.1043993G>TCA337835587AGRNc.1969G>T (p.Glu657Ter)
c.1654G>T (p.Glu552Ter)
c.1555G>T (p.Glu519Ter)
c.1096G>T (p.Glu366Ter)
c.235G>T (p.Glu79Ter)
n.2036G>T
n.2040G>T
1g.1043994A>CCA337835588AGRNc.1970A>C (p.Glu657Ala)
c.1655A>C (p.Glu552Ala)
c.1556A>C (p.Glu519Ala)
c.1097A>C (p.Glu366Ala)
c.236A>C (p.Glu79Ala)
n.2037A>C
n.2041A>C
1g.1043994A>GCA337835590AGRNc.1970A>G (p.Glu657Gly)
c.1655A>G (p.Glu552Gly)
c.1556A>G (p.Glu519Gly)
c.1097A>G (p.Glu366Gly)
c.236A>G (p.Glu79Gly)
n.2037A>G
n.2041A>G
1g.1043994A>TCA337835592AGRNc.1970A>T (p.Glu657Val)
c.1655A>T (p.Glu552Val)
c.1556A>T (p.Glu519Val)
c.1097A>T (p.Glu366Val)
c.236A>T (p.Glu79Val)
n.2037A>T
n.2041A>T
1g.1043995G>ACA415757013AGRNc.1971G>A (p.Glu657=)
c.1656G>A (p.Glu552=)
c.1557G>A (p.Glu519=)
c.1098G>A (p.Glu366=)
c.237G>A (p.Glu79=)
n.2038G>A
n.2042G>A
1g.1043995G>CCA337835593AGRNc.1971G>C (p.Glu657Asp)
c.1656G>C (p.Glu552Asp)
c.1557G>C (p.Glu519Asp)
c.1098G>C (p.Glu366Asp)
c.237G>C (p.Glu79Asp)
n.2038G>C
n.2042G>C
1g.1043995G>TCA337835596AGRNc.1971G>T (p.Glu657Asp)
c.1656G>T (p.Glu552Asp)
c.1557G>T (p.Glu519Asp)
c.1098G>T (p.Glu366Asp)
c.237G>T (p.Glu79Asp)
n.2038G>T
n.2042G>T
1g.1043996G>ACA337835601AGRNc.1972G>A (p.Glu658Lys)
c.1657G>A (p.Glu553Lys)
c.1558G>A (p.Glu520Lys)
c.1099G>A (p.Glu367Lys)
c.238G>A (p.Glu80Lys)
n.2039G>A
n.2043G>A
 ClinVar
1g.1043996G>CCA337835603AGRNc.1972G>C (p.Glu658Gln)
c.1657G>C (p.Glu553Gln)
c.1558G>C (p.Glu520Gln)
c.1099G>C (p.Glu367Gln)
c.238G>C (p.Glu80Gln)
n.2039G>C
n.2043G>C
 dbSNP gnomAD v2 gnomAD v4
1g.1043996G=CA1148773425AGRNc.1972G= (p.Glu658=)
c.1657G= (p.Glu553=)
c.1558G= (p.Glu520=)
c.1099G= (p.Glu367=)
c.238G= (p.Glu80=)
n.2039G=
n.2043G=
1g.1043996G>TCA337835605AGRNc.1972G>T (p.Glu658Ter)
c.1657G>T (p.Glu553Ter)
c.1558G>T (p.Glu520Ter)
c.1099G>T (p.Glu367Ter)
c.238G>T (p.Glu80Ter)
n.2039G>T
n.2043G>T
1g.1043997A>CCA337835608AGRNc.1973A>C (p.Glu658Ala)
c.1658A>C (p.Glu553Ala)
c.1559A>C (p.Glu520Ala)
c.1100A>C (p.Glu367Ala)
c.239A>C (p.Glu80Ala)
n.2040A>C
n.2044A>C
1g.1043997A>GCA337835610AGRNc.1973A>G (p.Glu658Gly)
c.1658A>G (p.Glu553Gly)
c.1559A>G (p.Glu520Gly)
c.1100A>G (p.Glu367Gly)
c.239A>G (p.Glu80Gly)
n.2040A>G
n.2044A>G
1g.1043997A>TCA337835606AGRNc.1973A>T (p.Glu658Val)
c.1658A>T (p.Glu553Val)
c.1559A>T (p.Glu520Val)
c.1100A>T (p.Glu367Val)
c.239A>T (p.Glu80Val)
n.2040A>T
n.2044A>T
1g.1043998G>ACA415757022AGRNc.1974G>A (p.Glu658=)
c.1659G>A (p.Glu553=)
c.1560G>A (p.Glu520=)
c.1101G>A (p.Glu367=)
c.240G>A (p.Glu80=)
n.2041G>A
n.2045G>A
 ClinVar dbSNP gnomAD v4
1g.1043998G>CCA337835620AGRNc.1974G>C (p.Glu658Asp)
c.1659G>C (p.Glu553Asp)
c.1560G>C (p.Glu520Asp)
c.1101G>C (p.Glu367Asp)
c.240G>C (p.Glu80Asp)
n.2041G>C
n.2045G>C
1g.1043998G=CA1148773435AGRNc.1974G= (p.Glu658=)
c.1659G= (p.Glu553=)
c.1560G= (p.Glu520=)
c.1101G= (p.Glu367=)
c.240G= (p.Glu80=)
n.2041G=
n.2045G=
1g.1043998G>TCA337835618AGRNc.1974G>T (p.Glu658Asp)
c.1659G>T (p.Glu553Asp)
c.1560G>T (p.Glu520Asp)
c.1101G>T (p.Glu367Asp)
c.240G>T (p.Glu80Asp)
n.2041G>T
n.2045G>T
1g.1043999G>ACA337835624AGRNc.1975G>A (p.Ala659Thr)
c.1660G>A (p.Ala554Thr)
c.1561G>A (p.Ala521Thr)
c.1102G>A (p.Ala368Thr)
c.241G>A (p.Ala81Thr)
n.2042G>A
n.2046G>A
 gnomAD v4 COSMIC
1g.1043999G>CCA337835625AGRNc.1975G>C (p.Ala659Pro)
c.1660G>C (p.Ala554Pro)
c.1561G>C (p.Ala521Pro)
c.1102G>C (p.Ala368Pro)
c.241G>C (p.Ala81Pro)
n.2042G>C
n.2046G>C
 gnomAD v4
1g.1043999G>TCA337835627AGRNc.1975G>T (p.Ala659Ser)
c.1660G>T (p.Ala554Ser)
c.1561G>T (p.Ala521Ser)
c.1102G>T (p.Ala368Ser)
c.241G>T (p.Ala81Ser)
n.2042G>T
n.2046G>T
1g.1043999_1044000delinsGCCA1148773443AGRNc.1975_1976delinsGC (p.Ala659=)
c.1660_1661delinsGC (p.Ala554=)
c.1561_1562delinsGC (p.Ala521=)
c.1102_1103delinsGC (p.Ala368=)
c.241_242delinsGC (p.Ala81=)
n.2042_2043delinsGC
n.2046_2047delinsGC
1g.1044000C>ACA337835628AGRNc.1976C>A (p.Ala659Asp)
c.1661C>A (p.Ala554Asp)
c.1562C>A (p.Ala521Asp)
c.1103C>A (p.Ala368Asp)
c.242C>A (p.Ala81Asp)
n.2043C>A
n.2047C>A
 gnomAD v4
1g.1044000C>GCA337835629AGRNc.1976C>G (p.Ala659Gly)
c.1661C>G (p.Ala554Gly)
c.1562C>G (p.Ala521Gly)
c.1103C>G (p.Ala368Gly)
c.242C>G (p.Ala81Gly)
n.2043C>G
n.2047C>G
1g.1044000C>TCA337835631AGRNc.1976C>T (p.Ala659Val)
c.1661C>T (p.Ala554Val)
c.1562C>T (p.Ala521Val)
c.1103C>T (p.Ala368Val)
c.242C>T (p.Ala81Val)
n.2043C>T
n.2047C>T
 gnomAD v4
1g.1044002delCA1148773503AGRNc.1978del (p.Arg660GlyfsTer?)
c.1663del (p.Arg555GlyfsTer?)
c.1564del (p.Arg522GlyfsTer?)
c.1105del (p.Arg369GlyfsTer?)
c.244del (p.Arg82GlyfsTer?)
n.2045del
n.2049del
 dbSNP
1g.1044001C>ACA415757031AGRNc.1977C>A (p.Ala659=)
c.1662C>A (p.Ala554=)
c.1563C>A (p.Ala521=)
c.1104C>A (p.Ala368=)
c.243C>A (p.Ala81=)
n.2044C>A
n.2048C>A
1g.1044001C=CA1148773524AGRNc.1977C= (p.Ala659=)
c.1662C= (p.Ala554=)
c.1563C= (p.Ala521=)
c.1104C= (p.Ala368=)
c.243C= (p.Ala81=)
n.2044C=
n.2048C=
1g.1044001C>GCA415757032AGRNc.1977C>G (p.Ala659=)
c.1662C>G (p.Ala554=)
c.1563C>G (p.Ala521=)
c.1104C>G (p.Ala368=)
c.243C>G (p.Ala81=)
n.2044C>G
n.2048C>G
1g.1044001C>TCA415757034AGRNc.1977C>T (p.Ala659=)
c.1662C>T (p.Ala554=)
c.1563C>T (p.Ala521=)
c.1104C>T (p.Ala368=)
c.243C>T (p.Ala81=)
n.2044C>T
n.2048C>T
 dbSNP gnomAD v2
1g.1044002C>ACA415757036AGRNc.1978C>A (p.Arg660=)
c.1663C>A (p.Arg555=)
c.1564C>A (p.Arg522=)
c.1105C>A (p.Arg369=)
c.244C>A (p.Arg82=)
n.2045C>A
n.2049C>A
1g.1044002C=CA1144787484AGRNc.1978C= (p.Arg660=)
c.1663C= (p.Arg555=)
c.1564C= (p.Arg522=)
c.1105C= (p.Arg369=)
c.244C= (p.Arg82=)
n.2045C=
n.2049C=
1g.1044002C>GCA337835633AGRNc.1978C>G (p.Arg660Gly)
c.1663C>G (p.Arg555Gly)
c.1564C>G (p.Arg522Gly)
c.1105C>G (p.Arg369Gly)
c.244C>G (p.Arg82Gly)
n.2045C>G
n.2049C>G
1g.1044002C>TCA508398AGRNc.1978C>T (p.Arg660Trp)
c.1663C>T (p.Arg555Trp)
c.1564C>T (p.Arg522Trp)
c.1105C>T (p.Arg369Trp)
c.244C>T (p.Arg82Trp)
n.2045C>T
n.2049C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044003G>ACA508399AGRNc.1979G>A (p.Arg660Gln)
c.1664G>A (p.Arg555Gln)
c.1565G>A (p.Arg522Gln)
c.1106G>A (p.Arg369Gln)
c.245G>A (p.Arg82Gln)
n.2046G>A
n.2050G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044003G>CCA337835634AGRNc.1979G>C (p.Arg660Pro)
c.1664G>C (p.Arg555Pro)
c.1565G>C (p.Arg522Pro)
c.1106G>C (p.Arg369Pro)
c.245G>C (p.Arg82Pro)
n.2046G>C
n.2050G>C
1g.1044003G=CA1143764897AGRNc.1979G= (p.Arg660=)
c.1664G= (p.Arg555=)
c.1565G= (p.Arg522=)
c.1106G= (p.Arg369=)
c.245G= (p.Arg82=)
n.2046G=
n.2050G=
1g.1044003G>TCA508400AGRNc.1979G>T (p.Arg660Leu)
c.1664G>T (p.Arg555Leu)
c.1565G>T (p.Arg522Leu)
c.1106G>T (p.Arg369Leu)
c.245G>T (p.Arg82Leu)
n.2046G>T
n.2050G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044004G>ACA415757049AGRNc.1980G>A (p.Arg660=)
c.1665G>A (p.Arg555=)
c.1566G>A (p.Arg522=)
c.1107G>A (p.Arg369=)
c.246G>A (p.Arg82=)
n.2047G>A
n.2051G>A
1g.1044004G>CCA415757047AGRNc.1980G>C (p.Arg660=)
c.1665G>C (p.Arg555=)
c.1566G>C (p.Arg522=)
c.1107G>C (p.Arg369=)
c.246G>C (p.Arg82=)
n.2047G>C
n.2051G>C
1g.1044004G>TCA415757048AGRNc.1980G>T (p.Arg660=)
c.1665G>T (p.Arg555=)
c.1566G>T (p.Arg522=)
c.1107G>T (p.Arg369=)
c.246G>T (p.Arg82=)
n.2047G>T
n.2051G>T
 gnomAD v4
1g.1044005G>ACA337835637AGRNc.1981G>A (p.Ala661Thr)
c.1666G>A (p.Ala556Thr)
c.1567G>A (p.Ala523Thr)
c.1108G>A (p.Ala370Thr)
c.247G>A (p.Ala83Thr)
n.2048G>A
n.2052G>A
 gnomAD v4
1g.1044005G>CCA337835639AGRNc.1981G>C (p.Ala661Pro)
c.1666G>C (p.Ala556Pro)
c.1567G>C (p.Ala523Pro)
c.1108G>C (p.Ala370Pro)
c.247G>C (p.Ala83Pro)
n.2048G>C
n.2052G>C
1g.1044005G>TCA337835636AGRNc.1981G>T (p.Ala661Ser)
c.1666G>T (p.Ala556Ser)
c.1567G>T (p.Ala523Ser)
c.1108G>T (p.Ala370Ser)
c.247G>T (p.Ala83Ser)
n.2048G>T
n.2052G>T
 gnomAD v4
1g.1044006C>ACA337835640AGRNc.1982C>A (p.Ala661Glu)
c.1667C>A (p.Ala556Glu)
c.1568C>A (p.Ala523Glu)
c.1109C>A (p.Ala370Glu)
c.248C>A (p.Ala83Glu)
n.2049C>A
n.2053C>A
 gnomAD v4
1g.1044006C=CA1148773541AGRNc.1982C= (p.Ala661=)
c.1667C= (p.Ala556=)
c.1568C= (p.Ala523=)
c.1109C= (p.Ala370=)
c.248C= (p.Ala83=)
n.2049C=
n.2053C=
1g.1044006C>GCA337835642AGRNc.1982C>G (p.Ala661Gly)
c.1667C>G (p.Ala556Gly)
c.1568C>G (p.Ala523Gly)
c.1109C>G (p.Ala370Gly)
c.248C>G (p.Ala83Gly)
n.2049C>G
n.2053C>G
1g.1044006C>TCA508401AGRNc.1982C>T (p.Ala661Val)
c.1667C>T (p.Ala556Val)
c.1568C>T (p.Ala523Val)
c.1109C>T (p.Ala370Val)
c.248C>T (p.Ala83Val)
n.2049C>T
n.2053C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044007A=CA1148773549AGRNc.1983A= (p.Ala661=)
c.1668A= (p.Ala556=)
c.1569A= (p.Ala523=)
c.1110A= (p.Ala370=)
c.249A= (p.Ala83=)
n.2050A=
n.2054A=
1g.1044007A>CCA415757057AGRNc.1983A>C (p.Ala661=)
c.1668A>C (p.Ala556=)
c.1569A>C (p.Ala523=)
c.1110A>C (p.Ala370=)
c.249A>C (p.Ala83=)
n.2050A>C
n.2054A>C
1g.1044007A>GCA415757059AGRNc.1983A>G (p.Ala661=)
c.1668A>G (p.Ala556=)
c.1569A>G (p.Ala523=)
c.1110A>G (p.Ala370=)
c.249A>G (p.Ala83=)
n.2050A>G
n.2054A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1044007A>TCA415757061AGRNc.1983A>T (p.Ala661=)
c.1668A>T (p.Ala556=)
c.1569A>T (p.Ala523=)
c.1110A>T (p.Ala370=)
c.249A>T (p.Ala83=)
n.2050A>T
n.2054A>T
1g.1044008G>ACA337835643AGRNc.1984G>A (p.Gly662Arg)
c.1669G>A (p.Gly557Arg)
c.1570G>A (p.Gly524Arg)
c.1111G>A (p.Gly371Arg)
c.250G>A (p.Gly84Arg)
n.2051G>A
n.2055G>A
 gnomAD v4
1g.1044008G>CCA337835644AGRNc.1984G>C (p.Gly662Arg)
c.1669G>C (p.Gly557Arg)
c.1570G>C (p.Gly524Arg)
c.1111G>C (p.Gly371Arg)
c.250G>C (p.Gly84Arg)
n.2051G>C
n.2055G>C
1g.1044008G>TCA337835645AGRNc.1984G>T (p.Gly662Trp)
c.1669G>T (p.Gly557Trp)
c.1570G>T (p.Gly524Trp)
c.1111G>T (p.Gly371Trp)
c.250G>T (p.Gly84Trp)
n.2051G>T
n.2055G>T
 gnomAD v4
1g.1044009G>ACA508402AGRNc.1985G>A (p.Gly662Glu)
c.1670G>A (p.Gly557Glu)
c.1571G>A (p.Gly524Glu)
c.1112G>A (p.Gly371Glu)
c.251G>A (p.Gly84Glu)
n.2052G>A
n.2056G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044009G>CCA337835663AGRNc.1985G>C (p.Gly662Ala)
c.1670G>C (p.Gly557Ala)
c.1571G>C (p.Gly524Ala)
c.1112G>C (p.Gly371Ala)
c.251G>C (p.Gly84Ala)
n.2052G>C
n.2056G>C
1g.1044009G=CA1148773556AGRNc.1985G= (p.Gly662=)
c.1670G= (p.Gly557=)
c.1571G= (p.Gly524=)
c.1112G= (p.Gly371=)
c.251G= (p.Gly84=)
n.2052G=
n.2056G=
1g.1044009G>TCA337835656AGRNc.1985G>T (p.Gly662Val)
c.1670G>T (p.Gly557Val)
c.1571G>T (p.Gly524Val)
c.1112G>T (p.Gly371Val)
c.251G>T (p.Gly84Val)
n.2052G>T
n.2056G>T
1g.1044010G>ACA508403AGRNc.1986G>A (p.Gly662=)
c.1671G>A (p.Gly557=)
c.1572G>A (p.Gly524=)
c.1113G>A (p.Gly371=)
c.252G>A (p.Gly84=)
n.2053G>A
n.2057G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044010G>CCA415757077AGRNc.1986G>C (p.Gly662=)
c.1671G>C (p.Gly557=)
c.1572G>C (p.Gly524=)
c.1113G>C (p.Gly371=)
c.252G>C (p.Gly84=)
n.2053G>C
n.2057G>C
1g.1044010G=CA1148773558AGRNc.1986G= (p.Gly662=)
c.1671G= (p.Gly557=)
c.1572G= (p.Gly524=)
c.1113G= (p.Gly371=)
c.252G= (p.Gly84=)
n.2053G=
n.2057G=
1g.1044010G>TCA415757078AGRNc.1986G>T (p.Gly662=)
c.1671G>T (p.Gly557=)
c.1572G>T (p.Gly524=)
c.1113G>T (p.Gly371=)
c.252G>T (p.Gly84=)
n.2053G>T
n.2057G>T
1g.1044011C>ACA337835665AGRNc.1987C>A (p.Pro663Thr)
c.1672C>A (p.Pro558Thr)
c.1573C>A (p.Pro525Thr)
c.1114C>A (p.Pro372Thr)
c.253C>A (p.Pro85Thr)
n.2054C>A
n.2058C>A
1g.1044011C=CA1148773568AGRNc.1987C= (p.Pro663=)
c.1672C= (p.Pro558=)
c.1573C= (p.Pro525=)
c.1114C= (p.Pro372=)
c.253C= (p.Pro85=)
n.2054C=
n.2058C=
1g.1044011C>GCA337835667AGRNc.1987C>G (p.Pro663Ala)
c.1672C>G (p.Pro558Ala)
c.1573C>G (p.Pro525Ala)
c.1114C>G (p.Pro372Ala)
c.253C>G (p.Pro85Ala)
n.2054C>G
n.2058C>G
1g.1044011C>TCA337835669AGRNc.1987C>T (p.Pro663Ser)
c.1672C>T (p.Pro558Ser)
c.1573C>T (p.Pro525Ser)
c.1114C>T (p.Pro372Ser)
c.253C>T (p.Pro85Ser)
n.2054C>T
n.2058C>T
 dbSNP gnomAD v3 gnomAD v4
1g.1044012C>ACA337835674AGRNc.1988C>A (p.Pro663Gln)
c.1673C>A (p.Pro558Gln)
c.1574C>A (p.Pro525Gln)
c.1115C>A (p.Pro372Gln)
c.254C>A (p.Pro85Gln)
n.2055C>A
n.2059C>A
1g.1044012C=CA1148773576AGRNc.1988C= (p.Pro663=)
c.1673C= (p.Pro558=)
c.1574C= (p.Pro525=)
c.1115C= (p.Pro372=)
c.254C= (p.Pro85=)
n.2055C=
n.2059C=
1g.1044012C>GCA337835672AGRNc.1988C>G (p.Pro663Arg)
c.1673C>G (p.Pro558Arg)
c.1574C>G (p.Pro525Arg)
c.1115C>G (p.Pro372Arg)
c.254C>G (p.Pro85Arg)
n.2055C>G
n.2059C>G
1g.1044012C>TCA508404AGRNc.1988C>T (p.Pro663Leu)
c.1673C>T (p.Pro558Leu)
c.1574C>T (p.Pro525Leu)
c.1115C>T (p.Pro372Leu)
c.254C>T (p.Pro85Leu)
n.2055C>T
n.2059C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044013G>ACA508405AGRNc.1989G>A (p.Pro663=)
c.1674G>A (p.Pro558=)
c.1575G>A (p.Pro525=)
c.1116G>A (p.Pro372=)
c.255G>A (p.Pro85=)
n.2056G>A
n.2060G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044013G>CCA415757079AGRNc.1989G>C (p.Pro663=)
c.1674G>C (p.Pro558=)
c.1575G>C (p.Pro525=)
c.1116G>C (p.Pro372=)
c.255G>C (p.Pro85=)
n.2056G>C
n.2060G>C
 gnomAD v4
1g.1044013G=CA1143988214AGRNc.1989G= (p.Pro663=)
c.1674G= (p.Pro558=)
c.1575G= (p.Pro525=)
c.1116G= (p.Pro372=)
c.255G= (p.Pro85=)
n.2056G=
n.2060G=
1g.1044013G>TCA415757081AGRNc.1989G>T (p.Pro663=)
c.1674G>T (p.Pro558=)
c.1575G>T (p.Pro525=)
c.1116G>T (p.Pro372=)
c.255G>T (p.Pro85=)
n.2056G>T
n.2060G>T
 gnomAD v4
1g.1044014T>ACA337835675AGRNc.1990T>A (p.Cys664Ser)
c.1675T>A (p.Cys559Ser)
c.1576T>A (p.Cys526Ser)
c.1117T>A (p.Cys373Ser)
c.256T>A (p.Cys86Ser)
n.2057T>A
n.2061T>A
1g.1044014T>CCA337835676AGRNc.1990T>C (p.Cys664Arg)
c.1675T>C (p.Cys559Arg)
c.1576T>C (p.Cys526Arg)
c.1117T>C (p.Cys373Arg)
c.256T>C (p.Cys86Arg)
n.2057T>C
n.2061T>C
1g.1044014T>GCA337835679AGRNc.1990T>G (p.Cys664Gly)
c.1675T>G (p.Cys559Gly)
c.1576T>G (p.Cys526Gly)
c.1117T>G (p.Cys373Gly)
c.256T>G (p.Cys86Gly)
n.2057T>G
n.2061T>G
1g.1044015G>ACA337835681AGRNc.1991G>A (p.Cys664Tyr)
c.1676G>A (p.Cys559Tyr)
c.1577G>A (p.Cys526Tyr)
c.1118G>A (p.Cys373Tyr)
c.257G>A (p.Cys86Tyr)
n.2058G>A
n.2062G>A
1g.1044015G>CCA337835682AGRNc.1991G>C (p.Cys664Ser)
c.1676G>C (p.Cys559Ser)
c.1577G>C (p.Cys526Ser)
c.1118G>C (p.Cys373Ser)
c.257G>C (p.Cys86Ser)
n.2058G>C
n.2062G>C
1g.1044015G>TCA337835684AGRNc.1991G>T (p.Cys664Phe)
c.1676G>T (p.Cys559Phe)
c.1577G>T (p.Cys526Phe)
c.1118G>T (p.Cys373Phe)
c.257G>T (p.Cys86Phe)
n.2058G>T
n.2062G>T
 gnomAD v4
1g.1044016C>ACA337835685AGRNc.1992C>A (p.Cys664Ter)
c.1677C>A (p.Cys559Ter)
c.1578C>A (p.Cys526Ter)
c.1119C>A (p.Cys373Ter)
c.258C>A (p.Cys86Ter)
n.2059C>A
n.2063C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044016C=CA1148773593AGRNc.1992C= (p.Cys664=)
c.1677C= (p.Cys559=)
c.1578C= (p.Cys526=)
c.1119C= (p.Cys373=)
c.258C= (p.Cys86=)
n.2059C=
n.2063C=
1g.1044016C>GCA337835687AGRNc.1992C>G (p.Cys664Trp)
c.1677C>G (p.Cys559Trp)
c.1578C>G (p.Cys526Trp)
c.1119C>G (p.Cys373Trp)
c.258C>G (p.Cys86Trp)
n.2059C>G
n.2063C>G
 gnomAD v4
1g.1044016C>TCA508406AGRNc.1992C>T (p.Cys664=)
c.1677C>T (p.Cys559=)
c.1578C>T (p.Cys526=)
c.1119C>T (p.Cys373=)
c.258C>T (p.Cys86=)
n.2059C>T
n.2063C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044017G>ACA205668AGRNc.1993G>A (p.Glu665Lys)
c.1678G>A (p.Glu560Lys)
c.1579G>A (p.Glu527Lys)
c.1120G>A (p.Glu374Lys)
c.259G>A (p.Glu87Lys)
n.2060G>A
n.2064G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044017G>CCA337835691AGRNc.1993G>C (p.Glu665Gln)
c.1678G>C (p.Glu560Gln)
c.1579G>C (p.Glu527Gln)
c.1120G>C (p.Glu374Gln)
c.259G>C (p.Glu87Gln)
n.2060G>C
n.2064G>C
 gnomAD v4
1g.1044017G=CA1141921943AGRNc.1993G= (p.Glu665=)
c.1678G= (p.Glu560=)
c.1579G= (p.Glu527=)
c.1120G= (p.Glu374=)
c.259G= (p.Glu87=)
n.2060G=
n.2064G=
1g.1044017G>TCA337835693AGRNc.1993G>T (p.Glu665Ter)
c.1678G>T (p.Glu560Ter)
c.1579G>T (p.Glu527Ter)
c.1120G>T (p.Glu374Ter)
c.259G>T (p.Glu87Ter)
n.2060G>T
n.2064G>T
 gnomAD v4
1g.1044018A>CCA337835704AGRNc.1994A>C (p.Glu665Ala)
c.1679A>C (p.Glu560Ala)
c.1580A>C (p.Glu527Ala)
c.1121A>C (p.Glu374Ala)
c.260A>C (p.Glu87Ala)
n.2061A>C
n.2065A>C
1g.1044018A>GCA337835696AGRNc.1994A>G (p.Glu665Gly)
c.1679A>G (p.Glu560Gly)
c.1580A>G (p.Glu527Gly)
c.1121A>G (p.Glu374Gly)
c.260A>G (p.Glu87Gly)
n.2061A>G
n.2065A>G
1g.1044018A>TCA337835703AGRNc.1994A>T (p.Glu665Val)
c.1679A>T (p.Glu560Val)
c.1580A>T (p.Glu527Val)
c.1121A>T (p.Glu374Val)
c.260A>T (p.Glu87Val)
n.2061A>T
n.2065A>T
1g.1044019G>ACA415757090AGRNc.1995G>A (p.Glu665=)
c.1680G>A (p.Glu560=)
c.1581G>A (p.Glu527=)
c.1122G>A (p.Glu374=)
c.261G>A (p.Glu87=)
n.2062G>A
n.2066G>A
1g.1044019G>CCA337835706AGRNc.1995G>C (p.Glu665Asp)
c.1680G>C (p.Glu560Asp)
c.1581G>C (p.Glu527Asp)
c.1122G>C (p.Glu374Asp)
c.261G>C (p.Glu87Asp)
n.2062G>C
n.2066G>C
1g.1044019G=CA1148773625AGRNc.1995G= (p.Glu665=)
c.1680G= (p.Glu560=)
c.1581G= (p.Glu527=)
c.1122G= (p.Glu374=)
c.261G= (p.Glu87=)
n.2062G=
n.2066G=
1g.1044019G>TCA508407AGRNc.1995G>T (p.Glu665Asp)
c.1680G>T (p.Glu560Asp)
c.1581G>T (p.Glu527Asp)
c.1122G>T (p.Glu374Asp)
c.261G>T (p.Glu87Asp)
n.2062G>T
n.2066G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044020C>ACA337835709AGRNc.1996C>A (p.Gln666Lys)
c.1681C>A (p.Gln561Lys)
c.1582C>A (p.Gln528Lys)
c.1123C>A (p.Gln375Lys)
c.262C>A (p.Gln88Lys)
n.2063C>A
n.2067C>A
1g.1044020C=CA1141651030AGRNc.1996C= (p.Gln666=)
c.1681C= (p.Gln561=)
c.1582C= (p.Gln528=)
c.1123C= (p.Gln375=)
c.262C= (p.Gln88=)
n.2063C=
n.2067C=
1g.1044020C>GCA508408AGRNc.1996C>G (p.Gln666Glu)
c.1681C>G (p.Gln561Glu)
c.1582C>G (p.Gln528Glu)
c.1123C>G (p.Gln375Glu)
c.262C>G (p.Gln88Glu)
n.2063C>G
n.2067C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1044020C>TCA337835712AGRNc.1996C>T (p.Gln666Ter)
c.1681C>T (p.Gln561Ter)
c.1582C>T (p.Gln528Ter)
c.1123C>T (p.Gln375Ter)
c.262C>T (p.Gln88Ter)
n.2063C>T
n.2067C>T
 COSMIC
1g.1044021A=CA1148773659AGRNc.1997A= (p.Gln666=)
c.1682A= (p.Gln561=)
c.1583A= (p.Gln528=)
c.1124A= (p.Gln375=)
c.263A= (p.Gln88=)
n.2064A=
n.2068A=
1g.1044021A>CCA337835724AGRNc.1997A>C (p.Gln666Pro)
c.1682A>C (p.Gln561Pro)
c.1583A>C (p.Gln528Pro)
c.1124A>C (p.Gln375Pro)
c.263A>C (p.Gln88Pro)
n.2064A>C
n.2068A>C
1g.1044021A>GCA337835725AGRNc.1997A>G (p.Gln666Arg)
c.1682A>G (p.Gln561Arg)
c.1583A>G (p.Gln528Arg)
c.1124A>G (p.Gln375Arg)
c.263A>G (p.Gln88Arg)
n.2064A>G
n.2068A>G
 dbSNP gnomAD v4
1g.1044021A>TCA337835728AGRNc.1997A>T (p.Gln666Leu)
c.1682A>T (p.Gln561Leu)
c.1583A>T (p.Gln528Leu)
c.1124A>T (p.Gln375Leu)
c.263A>T (p.Gln88Leu)
n.2064A>T
n.2068A>T
1g.1044022G>ACA415757094AGRNc.1998G>A (p.Gln666=)
c.1683G>A (p.Gln561=)
c.1584G>A (p.Gln528=)
c.1125G>A (p.Gln375=)
c.264G>A (p.Gln88=)
n.2065G>A
n.2069G>A
 gnomAD v4
1g.1044022G>CCA508409AGRNc.1998G>C (p.Gln666His)
c.1683G>C (p.Gln561His)
c.1584G>C (p.Gln528His)
c.1125G>C (p.Gln375His)
c.264G>C (p.Gln88His)
n.2065G>C
n.2069G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1044022G=CA1148773665AGRNc.1998G= (p.Gln666=)
c.1683G= (p.Gln561=)
c.1584G= (p.Gln528=)
c.1125G= (p.Gln375=)
c.264G= (p.Gln88=)
n.2065G=
n.2069G=
1g.1044022G>TCA337835730AGRNc.1998G>T (p.Gln666His)
c.1683G>T (p.Gln561His)
c.1584G>T (p.Gln528His)
c.1125G>T (p.Gln375His)
c.264G>T (p.Gln88His)
n.2065G>T
n.2069G>T
1g.1044023G>ACA337835733AGRNc.1999G>A (p.Ala667Thr)
c.1684G>A (p.Ala562Thr)
c.1585G>A (p.Ala529Thr)
c.1126G>A (p.Ala376Thr)
c.265G>A (p.Ala89Thr)
n.2066G>A
n.2070G>A
 dbSNP gnomAD v2
1g.1044023G>CCA337835734AGRNc.1999G>C (p.Ala667Pro)
c.1684G>C (p.Ala562Pro)
c.1585G>C (p.Ala529Pro)
c.1126G>C (p.Ala376Pro)
c.265G>C (p.Ala89Pro)
n.2066G>C
n.2070G>C
1g.1044023G=CA1148773670AGRNc.1999G= (p.Ala667=)
c.1684G= (p.Ala562=)
c.1585G= (p.Ala529=)
c.1126G= (p.Ala376=)
c.265G= (p.Ala89=)
n.2066G=
n.2070G=
1g.1044023G>TCA337835736AGRNc.1999G>T (p.Ala667Ser)
c.1684G>T (p.Ala562Ser)
c.1585G>T (p.Ala529Ser)
c.1126G>T (p.Ala376Ser)
c.265G>T (p.Ala89Ser)
n.2066G>T
n.2070G>T
 dbSNP gnomAD v2 gnomAD v4
1g.1044024G>ACA337835738AGRNc.1999+1G>A (n.1999+1G>A)
c.1684+1G>A (n.1684+1G>A)
c.1585+1G>A (n.1585+1G>A)
c.1126+1G>A (n.1126+1G>A)
c.265+1G>A (n.265+1G>A)
n.2066+1G>A
n.2070+1G>A
1g.1044024G>CCA337835740AGRNc.1999+1G>C (n.1999+1G>C)
c.1684+1G>C (n.1684+1G>C)
c.1585+1G>C (n.1585+1G>C)
c.1126+1G>C (n.1126+1G>C)
c.265+1G>C (n.265+1G>C)
n.2066+1G>C
n.2070+1G>C
1g.1044024G>TCA337835737AGRNc.1999+1G>T (n.1999+1G>T)
c.1684+1G>T (n.1684+1G>T)
c.1585+1G>T (n.1585+1G>T)
c.1126+1G>T (n.1126+1G>T)
c.265+1G>T (n.265+1G>T)
n.2066+1G>T
n.2070+1G>T
1g.1044025T>ACA337835744AGRNc.1999+2T>A (n.1999+2T>A)
c.1684+2T>A (n.1684+2T>A)
c.1585+2T>A (n.1585+2T>A)
c.1126+2T>A (n.1126+2T>A)
c.265+2T>A (n.265+2T>A)
n.2066+2T>A
n.2070+2T>A
1g.1044025T>CCA337835743AGRNc.1999+2T>C (n.1999+2T>C)
c.1684+2T>C (n.1684+2T>C)
c.1585+2T>C (n.1585+2T>C)
c.1126+2T>C (n.1126+2T>C)
c.265+2T>C (n.265+2T>C)
n.2066+2T>C
n.2070+2T>C
 gnomAD v4
1g.1044025T>GCA337835747AGRNc.1999+2T>G (n.1999+2T>G)
c.1684+2T>G (n.1684+2T>G)
c.1585+2T>G (n.1585+2T>G)
c.1126+2T>G (n.1126+2T>G)
c.265+2T>G (n.265+2T>G)
n.2066+2T>G
n.2070+2T>G
1g.1044027G>ACA2573130455AGRNc.1999+4G>A (n.1999+4G>A)
c.1684+4G>A (n.1684+4G>A)
c.1585+4G>A (n.1585+4G>A)
c.1126+4G>A (n.1126+4G>A)
c.265+4G>A (n.265+4G>A)
n.2066+4G>A
n.2070+4G>A
 ClinVar dbSNP
1g.1044027G=CA1140623884AGRNc.1999+4G= (n.1999+4G=)
c.1684+4G= (n.1684+4G=)
c.1585+4G= (n.1585+4G=)
c.1126+4G= (n.1126+4G=)
c.265+4G= (n.265+4G=)
n.2066+4G=
n.2070+4G=
1g.1044027G>TCA16754649AGRNc.1999+4G>T (n.1999+4G>T)
c.1684+4G>T (n.1684+4G>T)
c.1585+4G>T (n.1585+4G>T)
c.1126+4G>T (n.1126+4G>T)
c.265+4G>T (n.265+4G>T)
n.2066+4G>T
n.2070+4G>T
 dbSNP
1g.1044028G>ACA520658913AGRNc.1999+5G>A (n.1999+5G>A)
c.1684+5G>A (n.1684+5G>A)
c.1585+5G>A (n.1585+5G>A)
c.1126+5G>A (n.1126+5G>A)
c.265+5G>A (n.265+5G>A)
n.2066+5G>A
n.2070+5G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1044028G=CA1148773729AGRNc.1999+5G= (n.1999+5G=)
c.1684+5G= (n.1684+5G=)
c.1585+5G= (n.1585+5G=)
c.1126+5G= (n.1126+5G=)
c.265+5G= (n.265+5G=)
n.2066+5G=
n.2070+5G=
1g.1044028G>TCA2642490950AGRNc.1999+5G>T (n.1999+5G>T)
c.1684+5G>T (n.1684+5G>T)
c.1585+5G>T (n.1585+5G>T)
c.1126+5G>T (n.1126+5G>T)
c.265+5G>T (n.265+5G>T)
n.2066+5G>T
n.2070+5G>T
 gnomAD v4

Number of alleles fetched