Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7752496C>ACA415826016CAMTA1c.1675C>A (p.Arg559=)
c.2014C>A (p.Arg672=)
c.4582C>A (p.Arg1528=)
c.2243C>A
c.*4454C>A (n.*4454C>A)
c.4513C>A (p.Arg1505=)
c.4510C>A (p.Arg1504=)
c.2767C>A (p.Arg923=)
c.1972C>A (p.Arg658=)
c.1993C>A (p.Arg665=)
n.1095C>A
c.1633C>A (p.Arg545=)
c.2267C>A
n.3317C>A
n.2601C>A
c.605C>A
c.125C>A
c.4921C>A (p.Arg1641=)
c.613C>A (p.Arg205=)
c.618C>A
c.1812C>A
c.4942C>A (p.Arg1648=)
c.4930C>A (p.Arg1644=)
c.4870C>A (p.Arg1624=)
c.4852C>A (p.Arg1618=)
c.4603C>A (p.Arg1535=)
c.4831C>A (p.Arg1611=)
c.4597C>A (p.Arg1533=)
c.2050C>A (p.Arg684=)
c.1654C>A (p.Arg552=)
c.2203C>A (p.Arg735=)
c.2182C>A (p.Arg728=)
1g.7752496C=CA1152049611CAMTA1c.1675C= (p.Arg559=)
c.2014C= (p.Arg672=)
c.4582C= (p.Arg1528=)
c.2243C=
c.*4454C= (n.*4454C=)
c.4513C= (p.Arg1505=)
c.4510C= (p.Arg1504=)
c.2767C= (p.Arg923=)
c.1972C= (p.Arg658=)
c.1993C= (p.Arg665=)
n.1095C=
c.1633C= (p.Arg545=)
c.2267C=
n.3317C=
n.2601C=
c.605C=
c.125C=
c.4921C= (p.Arg1641=)
c.613C= (p.Arg205=)
c.618C=
c.1812C=
c.4942C= (p.Arg1648=)
c.4930C= (p.Arg1644=)
c.4870C= (p.Arg1624=)
c.4852C= (p.Arg1618=)
c.4603C= (p.Arg1535=)
c.4831C= (p.Arg1611=)
c.4597C= (p.Arg1533=)
c.2050C= (p.Arg684=)
c.1654C= (p.Arg552=)
c.2203C= (p.Arg735=)
c.2182C= (p.Arg728=)
1g.7752496C>GCA338145334CAMTA1c.1675C>G (p.Arg559Gly)
c.2014C>G (p.Arg672Gly)
c.4582C>G (p.Arg1528Gly)
c.2243C>G
c.*4454C>G (n.*4454C>G)
c.4513C>G (p.Arg1505Gly)
c.4510C>G (p.Arg1504Gly)
c.2767C>G (p.Arg923Gly)
c.1972C>G (p.Arg658Gly)
c.1993C>G (p.Arg665Gly)
n.1095C>G
c.1633C>G (p.Arg545Gly)
c.2267C>G
n.3317C>G
n.2601C>G
c.605C>G
c.125C>G
c.4921C>G (p.Arg1641Gly)
c.613C>G (p.Arg205Gly)
c.618C>G
c.1812C>G
c.4942C>G (p.Arg1648Gly)
c.4930C>G (p.Arg1644Gly)
c.4870C>G (p.Arg1624Gly)
c.4852C>G (p.Arg1618Gly)
c.4603C>G (p.Arg1535Gly)
c.4831C>G (p.Arg1611Gly)
c.4597C>G (p.Arg1533Gly)
c.2050C>G (p.Arg684Gly)
c.1654C>G (p.Arg552Gly)
c.2203C>G (p.Arg735Gly)
c.2182C>G (p.Arg728Gly)
1g.7752496C>TCA16603760CAMTA1c.1675C>T (p.Arg559Ter)
c.2014C>T (p.Arg672Ter)
c.4582C>T (p.Arg1528Ter)
c.2243C>T
c.*4454C>T (n.*4454C>T)
c.4513C>T (p.Arg1505Ter)
c.4510C>T (p.Arg1504Ter)
c.2767C>T (p.Arg923Ter)
c.1972C>T (p.Arg658Ter)
c.1993C>T (p.Arg665Ter)
n.1095C>T
c.1633C>T (p.Arg545Ter)
c.2267C>T
n.3317C>T
n.2601C>T
c.605C>T
c.125C>T
c.4921C>T (p.Arg1641Ter)
c.613C>T (p.Arg205Ter)
c.618C>T
c.1812C>T
c.4942C>T (p.Arg1648Ter)
c.4930C>T (p.Arg1644Ter)
c.4870C>T (p.Arg1624Ter)
c.4852C>T (p.Arg1618Ter)
c.4603C>T (p.Arg1535Ter)
c.4831C>T (p.Arg1611Ter)
c.4597C>T (p.Arg1533Ter)
c.2050C>T (p.Arg684Ter)
c.1654C>T (p.Arg552Ter)
c.2203C>T (p.Arg735Ter)
c.2182C>T (p.Arg728Ter)
 ClinVar dbSNP
1g.7752497G>ACA567285CAMTA1c.1676G>A (p.Arg559Gln)
c.2015G>A (p.Arg672Gln)
c.4583G>A (p.Arg1528Gln)
c.2244G>A
c.*4455G>A (n.*4455G>A)
c.4514G>A (p.Arg1505Gln)
c.4511G>A (p.Arg1504Gln)
c.2768G>A (p.Arg923Gln)
c.1973G>A (p.Arg658Gln)
c.1994G>A (p.Arg665Gln)
n.1096G>A
c.1634G>A (p.Arg545Gln)
c.2268G>A
n.3318G>A
n.2602G>A
c.606G>A
c.126G>A
c.4922G>A (p.Arg1641Gln)
c.614G>A (p.Arg205Gln)
c.619G>A
c.1813G>A
c.4943G>A (p.Arg1648Gln)
c.4931G>A (p.Arg1644Gln)
c.4871G>A (p.Arg1624Gln)
c.4853G>A (p.Arg1618Gln)
c.4604G>A (p.Arg1535Gln)
c.4832G>A (p.Arg1611Gln)
c.4598G>A (p.Arg1533Gln)
c.2051G>A (p.Arg684Gln)
c.1655G>A (p.Arg552Gln)
c.2204G>A (p.Arg735Gln)
c.2183G>A (p.Arg728Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7752497G>CCA338145340CAMTA1c.1676G>C (p.Arg559Pro)
c.2015G>C (p.Arg672Pro)
c.4583G>C (p.Arg1528Pro)
c.2244G>C
c.*4455G>C (n.*4455G>C)
c.4514G>C (p.Arg1505Pro)
c.4511G>C (p.Arg1504Pro)
c.2768G>C (p.Arg923Pro)
c.1973G>C (p.Arg658Pro)
c.1994G>C (p.Arg665Pro)
n.1096G>C
c.1634G>C (p.Arg545Pro)
c.2268G>C
n.3318G>C
n.2602G>C
c.606G>C
c.126G>C
c.4922G>C (p.Arg1641Pro)
c.614G>C (p.Arg205Pro)
c.619G>C
c.1813G>C
c.4943G>C (p.Arg1648Pro)
c.4931G>C (p.Arg1644Pro)
c.4871G>C (p.Arg1624Pro)
c.4853G>C (p.Arg1618Pro)
c.4604G>C (p.Arg1535Pro)
c.4832G>C (p.Arg1611Pro)
c.4598G>C (p.Arg1533Pro)
c.2051G>C (p.Arg684Pro)
c.1655G>C (p.Arg552Pro)
c.2204G>C (p.Arg735Pro)
c.2183G>C (p.Arg728Pro)
1g.7752497G=CA1143648344CAMTA1c.1676G= (p.Arg559=)
c.2015G= (p.Arg672=)
c.4583G= (p.Arg1528=)
c.2244G=
c.*4455G= (n.*4455G=)
c.4514G= (p.Arg1505=)
c.4511G= (p.Arg1504=)
c.2768G= (p.Arg923=)
c.1973G= (p.Arg658=)
c.1994G= (p.Arg665=)
n.1096G=
c.1634G= (p.Arg545=)
c.2268G=
n.3318G=
n.2602G=
c.606G=
c.126G=
c.4922G= (p.Arg1641=)
c.614G= (p.Arg205=)
c.619G=
c.1813G=
c.4943G= (p.Arg1648=)
c.4931G= (p.Arg1644=)
c.4871G= (p.Arg1624=)
c.4853G= (p.Arg1618=)
c.4604G= (p.Arg1535=)
c.4832G= (p.Arg1611=)
c.4598G= (p.Arg1533=)
c.2051G= (p.Arg684=)
c.1655G= (p.Arg552=)
c.2204G= (p.Arg735=)
c.2183G= (p.Arg728=)
1g.7752497G>TCA338145343CAMTA1c.1676G>T (p.Arg559Leu)
c.2015G>T (p.Arg672Leu)
c.4583G>T (p.Arg1528Leu)
c.2244G>T
c.*4455G>T (n.*4455G>T)
c.4514G>T (p.Arg1505Leu)
c.4511G>T (p.Arg1504Leu)
c.2768G>T (p.Arg923Leu)
c.1973G>T (p.Arg658Leu)
c.1994G>T (p.Arg665Leu)
n.1096G>T
c.1634G>T (p.Arg545Leu)
c.2268G>T
n.3318G>T
n.2602G>T
c.606G>T
c.126G>T
c.4922G>T (p.Arg1641Leu)
c.614G>T (p.Arg205Leu)
c.619G>T
c.1813G>T
c.4943G>T (p.Arg1648Leu)
c.4931G>T (p.Arg1644Leu)
c.4871G>T (p.Arg1624Leu)
c.4853G>T (p.Arg1618Leu)
c.4604G>T (p.Arg1535Leu)
c.4832G>T (p.Arg1611Leu)
c.4598G>T (p.Arg1533Leu)
c.2051G>T (p.Arg684Leu)
c.1655G>T (p.Arg552Leu)
c.2204G>T (p.Arg735Leu)
c.2183G>T (p.Arg728Leu)
1g.7752498A=CA1152049617CAMTA1c.1677A= (p.Arg559=)
c.2016A= (p.Arg672=)
c.4584A= (p.Arg1528=)
c.2245A=
c.*4456A= (n.*4456A=)
c.4515A= (p.Arg1505=)
c.4512A= (p.Arg1504=)
c.2769A= (p.Arg923=)
c.1974A= (p.Arg658=)
c.1995A= (p.Arg665=)
n.1097A=
c.1635A= (p.Arg545=)
c.2269A=
n.3319A=
n.2603A=
c.607A=
c.127A=
c.4923A= (p.Arg1641=)
c.615A= (p.Arg205=)
c.620A=
c.1814A=
c.4944A= (p.Arg1648=)
c.4932A= (p.Arg1644=)
c.4872A= (p.Arg1624=)
c.4854A= (p.Arg1618=)
c.4605A= (p.Arg1535=)
c.4833A= (p.Arg1611=)
c.4599A= (p.Arg1533=)
c.2052A= (p.Arg684=)
c.1656A= (p.Arg552=)
c.2205A= (p.Arg735=)
c.2184A= (p.Arg728=)
1g.7752498A>CCA415826018CAMTA1c.1677A>C (p.Arg559=)
c.2016A>C (p.Arg672=)
c.4584A>C (p.Arg1528=)
c.2245A>C
c.*4456A>C (n.*4456A>C)
c.4515A>C (p.Arg1505=)
c.4512A>C (p.Arg1504=)
c.2769A>C (p.Arg923=)
c.1974A>C (p.Arg658=)
c.1995A>C (p.Arg665=)
n.1097A>C
c.1635A>C (p.Arg545=)
c.2269A>C
n.3319A>C
n.2603A>C
c.607A>C
c.127A>C
c.4923A>C (p.Arg1641=)
c.615A>C (p.Arg205=)
c.620A>C
c.1814A>C
c.4944A>C (p.Arg1648=)
c.4932A>C (p.Arg1644=)
c.4872A>C (p.Arg1624=)
c.4854A>C (p.Arg1618=)
c.4605A>C (p.Arg1535=)
c.4833A>C (p.Arg1611=)
c.4599A>C (p.Arg1533=)
c.2052A>C (p.Arg684=)
c.1656A>C (p.Arg552=)
c.2205A>C (p.Arg735=)
c.2184A>C (p.Arg728=)
1g.7752498A>GCA415826019CAMTA1c.1677A>G (p.Arg559=)
c.2016A>G (p.Arg672=)
c.4584A>G (p.Arg1528=)
c.2245A>G
c.*4456A>G (n.*4456A>G)
c.4515A>G (p.Arg1505=)
c.4512A>G (p.Arg1504=)
c.2769A>G (p.Arg923=)
c.1974A>G (p.Arg658=)
c.1995A>G (p.Arg665=)
n.1097A>G
c.1635A>G (p.Arg545=)
c.2269A>G
n.3319A>G
n.2603A>G
c.607A>G
c.127A>G
c.4923A>G (p.Arg1641=)
c.615A>G (p.Arg205=)
c.620A>G
c.1814A>G
c.4944A>G (p.Arg1648=)
c.4932A>G (p.Arg1644=)
c.4872A>G (p.Arg1624=)
c.4854A>G (p.Arg1618=)
c.4605A>G (p.Arg1535=)
c.4833A>G (p.Arg1611=)
c.4599A>G (p.Arg1533=)
c.2052A>G (p.Arg684=)
c.1656A>G (p.Arg552=)
c.2205A>G (p.Arg735=)
c.2184A>G (p.Arg728=)
 dbSNP
1g.7752498A>TCA415826020CAMTA1c.1677A>T (p.Arg559=)
c.2016A>T (p.Arg672=)
c.4584A>T (p.Arg1528=)
c.2245A>T
c.*4456A>T (n.*4456A>T)
c.4515A>T (p.Arg1505=)
c.4512A>T (p.Arg1504=)
c.2769A>T (p.Arg923=)
c.1974A>T (p.Arg658=)
c.1995A>T (p.Arg665=)
n.1097A>T
c.1635A>T (p.Arg545=)
c.2269A>T
n.3319A>T
n.2603A>T
c.607A>T
c.127A>T
c.4923A>T (p.Arg1641=)
c.615A>T (p.Arg205=)
c.620A>T
c.1814A>T
c.4944A>T (p.Arg1648=)
c.4932A>T (p.Arg1644=)
c.4872A>T (p.Arg1624=)
c.4854A>T (p.Arg1618=)
c.4605A>T (p.Arg1535=)
c.4833A>T (p.Arg1611=)
c.4599A>T (p.Arg1533=)
c.2052A>T (p.Arg684=)
c.1656A>T (p.Arg552=)
c.2205A>T (p.Arg735=)
c.2184A>T (p.Arg728=)
1g.7752499A=CA1152049621CAMTA1c.1678A= (p.Lys560=)
c.2017A= (p.Lys673=)
c.4585A= (p.Lys1529=)
c.2246A=
c.*4457A= (n.*4457A=)
c.4516A= (p.Lys1506=)
c.4513A= (p.Lys1505=)
c.2770A= (p.Lys924=)
c.1975A= (p.Lys659=)
c.1996A= (p.Lys666=)
n.1098A=
c.1636A= (p.Lys546=)
c.2270A=
n.3320A=
n.2604A=
c.608A=
c.128A=
c.4924A= (p.Lys1642=)
c.616A= (p.Lys206=)
c.621A=
c.1815A=
c.4945A= (p.Lys1649=)
c.4933A= (p.Lys1645=)
c.4873A= (p.Lys1625=)
c.4855A= (p.Lys1619=)
c.4606A= (p.Lys1536=)
c.4834A= (p.Lys1612=)
c.4600A= (p.Lys1534=)
c.2053A= (p.Lys685=)
c.1657A= (p.Lys553=)
c.2206A= (p.Lys736=)
c.2185A= (p.Lys729=)
1g.7752499A>CCA338145347CAMTA1c.1678A>C (p.Lys560Gln)
c.2017A>C (p.Lys673Gln)
c.4585A>C (p.Lys1529Gln)
c.2246A>C
c.*4457A>C (n.*4457A>C)
c.4516A>C (p.Lys1506Gln)
c.4513A>C (p.Lys1505Gln)
c.2770A>C (p.Lys924Gln)
c.1975A>C (p.Lys659Gln)
c.1996A>C (p.Lys666Gln)
n.1098A>C
c.1636A>C (p.Lys546Gln)
c.2270A>C
n.3320A>C
n.2604A>C
c.608A>C
c.128A>C
c.4924A>C (p.Lys1642Gln)
c.616A>C (p.Lys206Gln)
c.621A>C
c.1815A>C
c.4945A>C (p.Lys1649Gln)
c.4933A>C (p.Lys1645Gln)
c.4873A>C (p.Lys1625Gln)
c.4855A>C (p.Lys1619Gln)
c.4606A>C (p.Lys1536Gln)
c.4834A>C (p.Lys1612Gln)
c.4600A>C (p.Lys1534Gln)
c.2053A>C (p.Lys685Gln)
c.1657A>C (p.Lys553Gln)
c.2206A>C (p.Lys736Gln)
c.2185A>C (p.Lys729Gln)
1g.7752499A>GCA17241507CAMTA1c.1678A>G (p.Lys560Glu)
c.2017A>G (p.Lys673Glu)
c.4585A>G (p.Lys1529Glu)
c.2246A>G
c.*4457A>G (n.*4457A>G)
c.4516A>G (p.Lys1506Glu)
c.4513A>G (p.Lys1505Glu)
c.2770A>G (p.Lys924Glu)
c.1975A>G (p.Lys659Glu)
c.1996A>G (p.Lys666Glu)
n.1098A>G
c.1636A>G (p.Lys546Glu)
c.2270A>G
n.3320A>G
n.2604A>G
c.608A>G
c.128A>G
c.4924A>G (p.Lys1642Glu)
c.616A>G (p.Lys206Glu)
c.621A>G
c.1815A>G
c.4945A>G (p.Lys1649Glu)
c.4933A>G (p.Lys1645Glu)
c.4873A>G (p.Lys1625Glu)
c.4855A>G (p.Lys1619Glu)
c.4606A>G (p.Lys1536Glu)
c.4834A>G (p.Lys1612Glu)
c.4600A>G (p.Lys1534Glu)
c.2053A>G (p.Lys685Glu)
c.1657A>G (p.Lys553Glu)
c.2206A>G (p.Lys736Glu)
c.2185A>G (p.Lys729Glu)
 dbSNP
1g.7752499A>TCA338145351CAMTA1c.1678A>T (p.Lys560Ter)
c.2017A>T (p.Lys673Ter)
c.4585A>T (p.Lys1529Ter)
c.2246A>T
c.*4457A>T (n.*4457A>T)
c.4516A>T (p.Lys1506Ter)
c.4513A>T (p.Lys1505Ter)
c.2770A>T (p.Lys924Ter)
c.1975A>T (p.Lys659Ter)
c.1996A>T (p.Lys666Ter)
n.1098A>T
c.1636A>T (p.Lys546Ter)
c.2270A>T
n.3320A>T
n.2604A>T
c.608A>T
c.128A>T
c.4924A>T (p.Lys1642Ter)
c.616A>T (p.Lys206Ter)
c.621A>T
c.1815A>T
c.4945A>T (p.Lys1649Ter)
c.4933A>T (p.Lys1645Ter)
c.4873A>T (p.Lys1625Ter)
c.4855A>T (p.Lys1619Ter)
c.4606A>T (p.Lys1536Ter)
c.4834A>T (p.Lys1612Ter)
c.4600A>T (p.Lys1534Ter)
c.2053A>T (p.Lys685Ter)
c.1657A>T (p.Lys553Ter)
c.2206A>T (p.Lys736Ter)
c.2185A>T (p.Lys729Ter)
1g.7752500A>CCA338145355CAMTA1c.1679A>C (p.Lys560Thr)
c.2018A>C (p.Lys673Thr)
c.4586A>C (p.Lys1529Thr)
c.2247A>C
c.*4458A>C (n.*4458A>C)
c.4517A>C (p.Lys1506Thr)
c.4514A>C (p.Lys1505Thr)
c.2771A>C (p.Lys924Thr)
c.1976A>C (p.Lys659Thr)
c.1997A>C (p.Lys666Thr)
n.1099A>C
c.1637A>C (p.Lys546Thr)
c.2271A>C
n.3321A>C
n.2605A>C
c.609A>C
c.129A>C
c.4925A>C (p.Lys1642Thr)
c.617A>C (p.Lys206Thr)
c.622A>C
c.1816A>C
c.4946A>C (p.Lys1649Thr)
c.4934A>C (p.Lys1645Thr)
c.4874A>C (p.Lys1625Thr)
c.4856A>C (p.Lys1619Thr)
c.4607A>C (p.Lys1536Thr)
c.4835A>C (p.Lys1612Thr)
c.4601A>C (p.Lys1534Thr)
c.2054A>C (p.Lys685Thr)
c.1658A>C (p.Lys553Thr)
c.2207A>C (p.Lys736Thr)
c.2186A>C (p.Lys729Thr)
1g.7752500A>GCA338145357CAMTA1c.1679A>G (p.Lys560Arg)
c.2018A>G (p.Lys673Arg)
c.4586A>G (p.Lys1529Arg)
c.2247A>G
c.*4458A>G (n.*4458A>G)
c.4517A>G (p.Lys1506Arg)
c.4514A>G (p.Lys1505Arg)
c.2771A>G (p.Lys924Arg)
c.1976A>G (p.Lys659Arg)
c.1997A>G (p.Lys666Arg)
n.1099A>G
c.1637A>G (p.Lys546Arg)
c.2271A>G
n.3321A>G
n.2605A>G
c.609A>G
c.129A>G
c.4925A>G (p.Lys1642Arg)
c.617A>G (p.Lys206Arg)
c.622A>G
c.1816A>G
c.4946A>G (p.Lys1649Arg)
c.4934A>G (p.Lys1645Arg)
c.4874A>G (p.Lys1625Arg)
c.4856A>G (p.Lys1619Arg)
c.4607A>G (p.Lys1536Arg)
c.4835A>G (p.Lys1612Arg)
c.4601A>G (p.Lys1534Arg)
c.2054A>G (p.Lys685Arg)
c.1658A>G (p.Lys553Arg)
c.2207A>G (p.Lys736Arg)
c.2186A>G (p.Lys729Arg)
 gnomAD v4
1g.7752500A>TCA338145360CAMTA1c.1679A>T (p.Lys560Ile)
c.2018A>T (p.Lys673Ile)
c.4586A>T (p.Lys1529Ile)
c.2247A>T
c.*4458A>T (n.*4458A>T)
c.4517A>T (p.Lys1506Ile)
c.4514A>T (p.Lys1505Ile)
c.2771A>T (p.Lys924Ile)
c.1976A>T (p.Lys659Ile)
c.1997A>T (p.Lys666Ile)
n.1099A>T
c.1637A>T (p.Lys546Ile)
c.2271A>T
n.3321A>T
n.2605A>T
c.609A>T
c.129A>T
c.4925A>T (p.Lys1642Ile)
c.617A>T (p.Lys206Ile)
c.622A>T
c.1816A>T
c.4946A>T (p.Lys1649Ile)
c.4934A>T (p.Lys1645Ile)
c.4874A>T (p.Lys1625Ile)
c.4856A>T (p.Lys1619Ile)
c.4607A>T (p.Lys1536Ile)
c.4835A>T (p.Lys1612Ile)
c.4601A>T (p.Lys1534Ile)
c.2054A>T (p.Lys685Ile)
c.1658A>T (p.Lys553Ile)
c.2207A>T (p.Lys736Ile)
c.2186A>T (p.Lys729Ile)
1g.7752501A>CCA338145366CAMTA1c.1680A>C (p.Lys560Asn)
c.2019A>C (p.Lys673Asn)
c.4587A>C (p.Lys1529Asn)
c.2248A>C
c.*4459A>C (n.*4459A>C)
c.4518A>C (p.Lys1506Asn)
c.4515A>C (p.Lys1505Asn)
c.2772A>C (p.Lys924Asn)
c.1977A>C (p.Lys659Asn)
c.1998A>C (p.Lys666Asn)
n.1100A>C
c.1638A>C (p.Lys546Asn)
c.2272A>C
n.3322A>C
n.2606A>C
c.610A>C
c.130A>C
c.4926A>C (p.Lys1642Asn)
c.618A>C (p.Lys206Asn)
c.623A>C
c.1817A>C
c.4947A>C (p.Lys1649Asn)
c.4935A>C (p.Lys1645Asn)
c.4875A>C (p.Lys1625Asn)
c.4857A>C (p.Lys1619Asn)
c.4608A>C (p.Lys1536Asn)
c.4836A>C (p.Lys1612Asn)
c.4602A>C (p.Lys1534Asn)
c.2055A>C (p.Lys685Asn)
c.1659A>C (p.Lys553Asn)
c.2208A>C (p.Lys736Asn)
c.2187A>C (p.Lys729Asn)
1g.7752501A>GCA415826021CAMTA1c.1680A>G (p.Lys560=)
c.2019A>G (p.Lys673=)
c.4587A>G (p.Lys1529=)
c.2248A>G
c.*4459A>G (n.*4459A>G)
c.4518A>G (p.Lys1506=)
c.4515A>G (p.Lys1505=)
c.2772A>G (p.Lys924=)
c.1977A>G (p.Lys659=)
c.1998A>G (p.Lys666=)
n.1100A>G
c.1638A>G (p.Lys546=)
c.2272A>G
n.3322A>G
n.2606A>G
c.610A>G
c.130A>G
c.4926A>G (p.Lys1642=)
c.618A>G (p.Lys206=)
c.623A>G
c.1817A>G
c.4947A>G (p.Lys1649=)
c.4935A>G (p.Lys1645=)
c.4875A>G (p.Lys1625=)
c.4857A>G (p.Lys1619=)
c.4608A>G (p.Lys1536=)
c.4836A>G (p.Lys1612=)
c.4602A>G (p.Lys1534=)
c.2055A>G (p.Lys685=)
c.1659A>G (p.Lys553=)
c.2208A>G (p.Lys736=)
c.2187A>G (p.Lys729=)
1g.7752501A>TCA338145363CAMTA1c.1680A>T (p.Lys560Asn)
c.2019A>T (p.Lys673Asn)
c.4587A>T (p.Lys1529Asn)
c.2248A>T
c.*4459A>T (n.*4459A>T)
c.4518A>T (p.Lys1506Asn)
c.4515A>T (p.Lys1505Asn)
c.2772A>T (p.Lys924Asn)
c.1977A>T (p.Lys659Asn)
c.1998A>T (p.Lys666Asn)
n.1100A>T
c.1638A>T (p.Lys546Asn)
c.2272A>T
n.3322A>T
n.2606A>T
c.610A>T
c.130A>T
c.4926A>T (p.Lys1642Asn)
c.618A>T (p.Lys206Asn)
c.623A>T
c.1817A>T
c.4947A>T (p.Lys1649Asn)
c.4935A>T (p.Lys1645Asn)
c.4875A>T (p.Lys1625Asn)
c.4857A>T (p.Lys1619Asn)
c.4608A>T (p.Lys1536Asn)
c.4836A>T (p.Lys1612Asn)
c.4602A>T (p.Lys1534Asn)
c.2055A>T (p.Lys685Asn)
c.1659A>T (p.Lys553Asn)
c.2208A>T (p.Lys736Asn)
c.2187A>T (p.Lys729Asn)
1g.7752502A>CCA338145370CAMTA1c.1681A>C (p.Ile561Leu)
c.2020A>C (p.Ile674Leu)
c.4588A>C (p.Ile1530Leu)
c.2249A>C
c.*4460A>C (n.*4460A>C)
c.4519A>C (p.Ile1507Leu)
c.4516A>C (p.Ile1506Leu)
c.2773A>C (p.Ile925Leu)
c.1978A>C (p.Ile660Leu)
c.1999A>C (p.Ile667Leu)
n.1101A>C
c.1639A>C (p.Ile547Leu)
c.2273A>C
n.3323A>C
n.2607A>C
c.611A>C
c.131A>C
c.4927A>C (p.Ile1643Leu)
c.619A>C (p.Ile207Leu)
c.624A>C
c.1818A>C
c.4948A>C (p.Ile1650Leu)
c.4936A>C (p.Ile1646Leu)
c.4876A>C (p.Ile1626Leu)
c.4858A>C (p.Ile1620Leu)
c.4609A>C (p.Ile1537Leu)
c.4837A>C (p.Ile1613Leu)
c.4603A>C (p.Ile1535Leu)
c.2056A>C (p.Ile686Leu)
c.1660A>C (p.Ile554Leu)
c.2209A>C (p.Ile737Leu)
c.2188A>C (p.Ile730Leu)
1g.7752502A>GCA338145374CAMTA1c.1681A>G (p.Ile561Val)
c.2020A>G (p.Ile674Val)
c.4588A>G (p.Ile1530Val)
c.2249A>G
c.*4460A>G (n.*4460A>G)
c.4519A>G (p.Ile1507Val)
c.4516A>G (p.Ile1506Val)
c.2773A>G (p.Ile925Val)
c.1978A>G (p.Ile660Val)
c.1999A>G (p.Ile667Val)
n.1101A>G
c.1639A>G (p.Ile547Val)
c.2273A>G
n.3323A>G
n.2607A>G
c.611A>G
c.131A>G
c.4927A>G (p.Ile1643Val)
c.619A>G (p.Ile207Val)
c.624A>G
c.1818A>G
c.4948A>G (p.Ile1650Val)
c.4936A>G (p.Ile1646Val)
c.4876A>G (p.Ile1626Val)
c.4858A>G (p.Ile1620Val)
c.4609A>G (p.Ile1537Val)
c.4837A>G (p.Ile1613Val)
c.4603A>G (p.Ile1535Val)
c.2056A>G (p.Ile686Val)
c.1660A>G (p.Ile554Val)
c.2209A>G (p.Ile737Val)
c.2188A>G (p.Ile730Val)
1g.7752502A>TCA338145378CAMTA1c.1681A>T (p.Ile561Leu)
c.2020A>T (p.Ile674Leu)
c.4588A>T (p.Ile1530Leu)
c.2249A>T
c.*4460A>T (n.*4460A>T)
c.4519A>T (p.Ile1507Leu)
c.4516A>T (p.Ile1506Leu)
c.2773A>T (p.Ile925Leu)
c.1978A>T (p.Ile660Leu)
c.1999A>T (p.Ile667Leu)
n.1101A>T
c.1639A>T (p.Ile547Leu)
c.2273A>T
n.3323A>T
n.2607A>T
c.611A>T
c.131A>T
c.4927A>T (p.Ile1643Leu)
c.619A>T (p.Ile207Leu)
c.624A>T
c.1818A>T
c.4948A>T (p.Ile1650Leu)
c.4936A>T (p.Ile1646Leu)
c.4876A>T (p.Ile1626Leu)
c.4858A>T (p.Ile1620Leu)
c.4609A>T (p.Ile1537Leu)
c.4837A>T (p.Ile1613Leu)
c.4603A>T (p.Ile1535Leu)
c.2056A>T (p.Ile686Leu)
c.1660A>T (p.Ile554Leu)
c.2209A>T (p.Ile737Leu)
c.2188A>T (p.Ile730Leu)
1g.7752503T>ACA338145381CAMTA1c.1682T>A (p.Ile561Lys)
c.2021T>A (p.Ile674Lys)
c.4589T>A (p.Ile1530Lys)
c.2250T>A
c.*4461T>A (n.*4461T>A)
c.4520T>A (p.Ile1507Lys)
c.4517T>A (p.Ile1506Lys)
c.2774T>A (p.Ile925Lys)
c.1979T>A (p.Ile660Lys)
c.2000T>A (p.Ile667Lys)
n.1102T>A
c.1640T>A (p.Ile547Lys)
c.2274T>A
n.3324T>A
n.2608T>A
c.612T>A
c.132T>A
c.4928T>A (p.Ile1643Lys)
c.620T>A (p.Ile207Lys)
c.625T>A
c.1819T>A
c.4949T>A (p.Ile1650Lys)
c.4937T>A (p.Ile1646Lys)
c.4877T>A (p.Ile1626Lys)
c.4859T>A (p.Ile1620Lys)
c.4610T>A (p.Ile1537Lys)
c.4838T>A (p.Ile1613Lys)
c.4604T>A (p.Ile1535Lys)
c.2057T>A (p.Ile686Lys)
c.1661T>A (p.Ile554Lys)
c.2210T>A (p.Ile737Lys)
c.2189T>A (p.Ile730Lys)
1g.7752503T>CCA338145385CAMTA1c.1682T>C (p.Ile561Thr)
c.2021T>C (p.Ile674Thr)
c.4589T>C (p.Ile1530Thr)
c.2250T>C
c.*4461T>C (n.*4461T>C)
c.4520T>C (p.Ile1507Thr)
c.4517T>C (p.Ile1506Thr)
c.2774T>C (p.Ile925Thr)
c.1979T>C (p.Ile660Thr)
c.2000T>C (p.Ile667Thr)
n.1102T>C
c.1640T>C (p.Ile547Thr)
c.2274T>C
n.3324T>C
n.2608T>C
c.612T>C
c.132T>C
c.4928T>C (p.Ile1643Thr)
c.620T>C (p.Ile207Thr)
c.625T>C
c.1819T>C
c.4949T>C (p.Ile1650Thr)
c.4937T>C (p.Ile1646Thr)
c.4877T>C (p.Ile1626Thr)
c.4859T>C (p.Ile1620Thr)
c.4610T>C (p.Ile1537Thr)
c.4838T>C (p.Ile1613Thr)
c.4604T>C (p.Ile1535Thr)
c.2057T>C (p.Ile686Thr)
c.1661T>C (p.Ile554Thr)
c.2210T>C (p.Ile737Thr)
c.2189T>C (p.Ile730Thr)
 gnomAD v4
1g.7752503T>GCA338145390CAMTA1c.1682T>G (p.Ile561Arg)
c.2021T>G (p.Ile674Arg)
c.4589T>G (p.Ile1530Arg)
c.2250T>G
c.*4461T>G (n.*4461T>G)
c.4520T>G (p.Ile1507Arg)
c.4517T>G (p.Ile1506Arg)
c.2774T>G (p.Ile925Arg)
c.1979T>G (p.Ile660Arg)
c.2000T>G (p.Ile667Arg)
n.1102T>G
c.1640T>G (p.Ile547Arg)
c.2274T>G
n.3324T>G
n.2608T>G
c.612T>G
c.132T>G
c.4928T>G (p.Ile1643Arg)
c.620T>G (p.Ile207Arg)
c.625T>G
c.1819T>G
c.4949T>G (p.Ile1650Arg)
c.4937T>G (p.Ile1646Arg)
c.4877T>G (p.Ile1626Arg)
c.4859T>G (p.Ile1620Arg)
c.4610T>G (p.Ile1537Arg)
c.4838T>G (p.Ile1613Arg)
c.4604T>G (p.Ile1535Arg)
c.2057T>G (p.Ile686Arg)
c.1661T>G (p.Ile554Arg)
c.2210T>G (p.Ile737Arg)
c.2189T>G (p.Ile730Arg)
1g.7752504A=CA1152049625CAMTA1c.1683A= (p.Ile561=)
c.2022A= (p.Ile674=)
c.4590A= (p.Ile1530=)
c.2251A=
c.*4462A= (n.*4462A=)
c.4521A= (p.Ile1507=)
c.4518A= (p.Ile1506=)
c.2775A= (p.Ile925=)
c.1980A= (p.Ile660=)
c.2001A= (p.Ile667=)
n.1103A=
c.1641A= (p.Ile547=)
c.2275A=
n.3325A=
n.2609A=
c.613A=
c.133A=
c.4929A= (p.Ile1643=)
c.621A= (p.Ile207=)
c.626A=
c.1820A=
c.4950A= (p.Ile1650=)
c.4938A= (p.Ile1646=)
c.4878A= (p.Ile1626=)
c.4860A= (p.Ile1620=)
c.4611A= (p.Ile1537=)
c.4839A= (p.Ile1613=)
c.4605A= (p.Ile1535=)
c.2058A= (p.Ile686=)
c.1662A= (p.Ile554=)
c.2211A= (p.Ile737=)
c.2190A= (p.Ile730=)
1g.7752504A>CCA415826023CAMTA1c.1683A>C (p.Ile561=)
c.2022A>C (p.Ile674=)
c.4590A>C (p.Ile1530=)
c.2251A>C
c.*4462A>C (n.*4462A>C)
c.4521A>C (p.Ile1507=)
c.4518A>C (p.Ile1506=)
c.2775A>C (p.Ile925=)
c.1980A>C (p.Ile660=)
c.2001A>C (p.Ile667=)
n.1103A>C
c.1641A>C (p.Ile547=)
c.2275A>C
n.3325A>C
n.2609A>C
c.613A>C
c.133A>C
c.4929A>C (p.Ile1643=)
c.621A>C (p.Ile207=)
c.626A>C
c.1820A>C
c.4950A>C (p.Ile1650=)
c.4938A>C (p.Ile1646=)
c.4878A>C (p.Ile1626=)
c.4860A>C (p.Ile1620=)
c.4611A>C (p.Ile1537=)
c.4839A>C (p.Ile1613=)
c.4605A>C (p.Ile1535=)
c.2058A>C (p.Ile686=)
c.1662A>C (p.Ile554=)
c.2211A>C (p.Ile737=)
c.2190A>C (p.Ile730=)
1g.7752504A>GCA338145395CAMTA1c.1683A>G (p.Ile561Met)
c.2022A>G (p.Ile674Met)
c.4590A>G (p.Ile1530Met)
c.2251A>G
c.*4462A>G (n.*4462A>G)
c.4521A>G (p.Ile1507Met)
c.4518A>G (p.Ile1506Met)
c.2775A>G (p.Ile925Met)
c.1980A>G (p.Ile660Met)
c.2001A>G (p.Ile667Met)
n.1103A>G
c.1641A>G (p.Ile547Met)
c.2275A>G
n.3325A>G
n.2609A>G
c.613A>G
c.133A>G
c.4929A>G (p.Ile1643Met)
c.621A>G (p.Ile207Met)
c.626A>G
c.1820A>G
c.4950A>G (p.Ile1650Met)
c.4938A>G (p.Ile1646Met)
c.4878A>G (p.Ile1626Met)
c.4860A>G (p.Ile1620Met)
c.4611A>G (p.Ile1537Met)
c.4839A>G (p.Ile1613Met)
c.4605A>G (p.Ile1535Met)
c.2058A>G (p.Ile686Met)
c.1662A>G (p.Ile554Met)
c.2211A>G (p.Ile737Met)
c.2190A>G (p.Ile730Met)
1g.7752504A>TCA567286CAMTA1c.1683A>T (p.Ile561=)
c.2022A>T (p.Ile674=)
c.4590A>T (p.Ile1530=)
c.2251A>T
c.*4462A>T (n.*4462A>T)
c.4521A>T (p.Ile1507=)
c.4518A>T (p.Ile1506=)
c.2775A>T (p.Ile925=)
c.1980A>T (p.Ile660=)
c.2001A>T (p.Ile667=)
n.1103A>T
c.1641A>T (p.Ile547=)
c.2275A>T
n.3325A>T
n.2609A>T
c.613A>T
c.133A>T
c.4929A>T (p.Ile1643=)
c.621A>T (p.Ile207=)
c.626A>T
c.1820A>T
c.4950A>T (p.Ile1650=)
c.4938A>T (p.Ile1646=)
c.4878A>T (p.Ile1626=)
c.4860A>T (p.Ile1620=)
c.4611A>T (p.Ile1537=)
c.4839A>T (p.Ile1613=)
c.4605A>T (p.Ile1535=)
c.2058A>T (p.Ile686=)
c.1662A>T (p.Ile554=)
c.2211A>T (p.Ile737=)
c.2190A>T (p.Ile730=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.7752505A=CA1152049631CAMTA1c.1684A= (p.Met562=)
c.2023A= (p.Met675=)
c.4591A= (p.Met1531=)
c.2252A=
c.*4463A= (n.*4463A=)
c.4522A= (p.Met1508=)
c.4519A= (p.Met1507=)
c.2776A= (p.Met926=)
c.1981A= (p.Met661=)
c.2002A= (p.Met668=)
n.1104A=
c.1642A= (p.Met548=)
c.2276A=
n.3326A=
n.2610A=
c.614A=
c.134A=
c.4930A= (p.Met1644=)
c.622A= (p.Met208=)
c.627A=
c.1821A=
c.4951A= (p.Met1651=)
c.4939A= (p.Met1647=)
c.4879A= (p.Met1627=)
c.4861A= (p.Met1621=)
c.4612A= (p.Met1538=)
c.4840A= (p.Met1614=)
c.4606A= (p.Met1536=)
c.2059A= (p.Met687=)
c.1663A= (p.Met555=)
c.2212A= (p.Met738=)
c.2191A= (p.Met731=)
1g.7752505A>CCA338145404CAMTA1c.1684A>C (p.Met562Leu)
c.2023A>C (p.Met675Leu)
c.4591A>C (p.Met1531Leu)
c.2252A>C
c.*4463A>C (n.*4463A>C)
c.4522A>C (p.Met1508Leu)
c.4519A>C (p.Met1507Leu)
c.2776A>C (p.Met926Leu)
c.1981A>C (p.Met661Leu)
c.2002A>C (p.Met668Leu)
n.1104A>C
c.1642A>C (p.Met548Leu)
c.2276A>C
n.3326A>C
n.2610A>C
c.614A>C
c.134A>C
c.4930A>C (p.Met1644Leu)
c.622A>C (p.Met208Leu)
c.627A>C
c.1821A>C
c.4951A>C (p.Met1651Leu)
c.4939A>C (p.Met1647Leu)
c.4879A>C (p.Met1627Leu)
c.4861A>C (p.Met1621Leu)
c.4612A>C (p.Met1538Leu)
c.4840A>C (p.Met1614Leu)
c.4606A>C (p.Met1536Leu)
c.2059A>C (p.Met687Leu)
c.1663A>C (p.Met555Leu)
c.2212A>C (p.Met738Leu)
c.2191A>C (p.Met731Leu)
1g.7752505A>GCA338145407CAMTA1c.1684A>G (p.Met562Val)
c.2023A>G (p.Met675Val)
c.4591A>G (p.Met1531Val)
c.2252A>G
c.*4463A>G (n.*4463A>G)
c.4522A>G (p.Met1508Val)
c.4519A>G (p.Met1507Val)
c.2776A>G (p.Met926Val)
c.1981A>G (p.Met661Val)
c.2002A>G (p.Met668Val)
n.1104A>G
c.1642A>G (p.Met548Val)
c.2276A>G
n.3326A>G
n.2610A>G
c.614A>G
c.134A>G
c.4930A>G (p.Met1644Val)
c.622A>G (p.Met208Val)
c.627A>G
c.1821A>G
c.4951A>G (p.Met1651Val)
c.4939A>G (p.Met1647Val)
c.4879A>G (p.Met1627Val)
c.4861A>G (p.Met1621Val)
c.4612A>G (p.Met1538Val)
c.4840A>G (p.Met1614Val)
c.4606A>G (p.Met1536Val)
c.2059A>G (p.Met687Val)
c.1663A>G (p.Met555Val)
c.2212A>G (p.Met738Val)
c.2191A>G (p.Met731Val)
 dbSNP gnomAD v4
1g.7752505A>TCA338145410CAMTA1c.1684A>T (p.Met562Leu)
c.2023A>T (p.Met675Leu)
c.4591A>T (p.Met1531Leu)
c.2252A>T
c.*4463A>T (n.*4463A>T)
c.4522A>T (p.Met1508Leu)
c.4519A>T (p.Met1507Leu)
c.2776A>T (p.Met926Leu)
c.1981A>T (p.Met661Leu)
c.2002A>T (p.Met668Leu)
n.1104A>T
c.1642A>T (p.Met548Leu)
c.2276A>T
n.3326A>T
n.2610A>T
c.614A>T
c.134A>T
c.4930A>T (p.Met1644Leu)
c.622A>T (p.Met208Leu)
c.627A>T
c.1821A>T
c.4951A>T (p.Met1651Leu)
c.4939A>T (p.Met1647Leu)
c.4879A>T (p.Met1627Leu)
c.4861A>T (p.Met1621Leu)
c.4612A>T (p.Met1538Leu)
c.4840A>T (p.Met1614Leu)
c.4606A>T (p.Met1536Leu)
c.2059A>T (p.Met687Leu)
c.1663A>T (p.Met555Leu)
c.2212A>T (p.Met738Leu)
c.2191A>T (p.Met731Leu)
1g.7752506T>ACA338145413CAMTA1c.1685T>A (p.Met562Lys)
c.2024T>A (p.Met675Lys)
c.4592T>A (p.Met1531Lys)
c.2253T>A
c.*4464T>A (n.*4464T>A)
c.4523T>A (p.Met1508Lys)
c.4520T>A (p.Met1507Lys)
c.2777T>A (p.Met926Lys)
c.1982T>A (p.Met661Lys)
c.2003T>A (p.Met668Lys)
n.1105T>A
c.1643T>A (p.Met548Lys)
c.2277T>A
n.3327T>A
n.2611T>A
c.615T>A
c.135T>A
c.4931T>A (p.Met1644Lys)
c.623T>A (p.Met208Lys)
c.628T>A
c.1822T>A
c.4952T>A (p.Met1651Lys)
c.4940T>A (p.Met1647Lys)
c.4880T>A (p.Met1627Lys)
c.4862T>A (p.Met1621Lys)
c.4613T>A (p.Met1538Lys)
c.4841T>A (p.Met1614Lys)
c.4607T>A (p.Met1536Lys)
c.2060T>A (p.Met687Lys)
c.1664T>A (p.Met555Lys)
c.2213T>A (p.Met738Lys)
c.2192T>A (p.Met731Lys)
1g.7752506T>CCA338145417CAMTA1c.1685T>C (p.Met562Thr)
c.2024T>C (p.Met675Thr)
c.4592T>C (p.Met1531Thr)
c.2253T>C
c.*4464T>C (n.*4464T>C)
c.4523T>C (p.Met1508Thr)
c.4520T>C (p.Met1507Thr)
c.2777T>C (p.Met926Thr)
c.1982T>C (p.Met661Thr)
c.2003T>C (p.Met668Thr)
n.1105T>C
c.1643T>C (p.Met548Thr)
c.2277T>C
n.3327T>C
n.2611T>C
c.615T>C
c.135T>C
c.4931T>C (p.Met1644Thr)
c.623T>C (p.Met208Thr)
c.628T>C
c.1822T>C
c.4952T>C (p.Met1651Thr)
c.4940T>C (p.Met1647Thr)
c.4880T>C (p.Met1627Thr)
c.4862T>C (p.Met1621Thr)
c.4613T>C (p.Met1538Thr)
c.4841T>C (p.Met1614Thr)
c.4607T>C (p.Met1536Thr)
c.2060T>C (p.Met687Thr)
c.1664T>C (p.Met555Thr)
c.2213T>C (p.Met738Thr)
c.2192T>C (p.Met731Thr)
1g.7752506T>GCA338145420CAMTA1c.1685T>G (p.Met562Arg)
c.2024T>G (p.Met675Arg)
c.4592T>G (p.Met1531Arg)
c.2253T>G
c.*4464T>G (n.*4464T>G)
c.4523T>G (p.Met1508Arg)
c.4520T>G (p.Met1507Arg)
c.2777T>G (p.Met926Arg)
c.1982T>G (p.Met661Arg)
c.2003T>G (p.Met668Arg)
n.1105T>G
c.1643T>G (p.Met548Arg)
c.2277T>G
n.3327T>G
n.2611T>G
c.615T>G
c.135T>G
c.4931T>G (p.Met1644Arg)
c.623T>G (p.Met208Arg)
c.628T>G
c.1822T>G
c.4952T>G (p.Met1651Arg)
c.4940T>G (p.Met1647Arg)
c.4880T>G (p.Met1627Arg)
c.4862T>G (p.Met1621Arg)
c.4613T>G (p.Met1538Arg)
c.4841T>G (p.Met1614Arg)
c.4607T>G (p.Met1536Arg)
c.2060T>G (p.Met687Arg)
c.1664T>G (p.Met555Arg)
c.2213T>G (p.Met738Arg)
c.2192T>G (p.Met731Arg)
1g.7752507G>ACA338145428CAMTA1c.1686G>A (p.Met562Ile)
c.2025G>A (p.Met675Ile)
c.4593G>A (p.Met1531Ile)
c.2254G>A
c.*4465G>A (n.*4465G>A)
c.4524G>A (p.Met1508Ile)
c.4521G>A (p.Met1507Ile)
c.2778G>A (p.Met926Ile)
c.1983G>A (p.Met661Ile)
c.2004G>A (p.Met668Ile)
n.1106G>A
c.1644G>A (p.Met548Ile)
c.2278G>A
n.3328G>A
n.2612G>A
c.616G>A
c.136G>A
c.4932G>A (p.Met1644Ile)
c.624G>A (p.Met208Ile)
c.629G>A
c.1823G>A
c.4953G>A (p.Met1651Ile)
c.4941G>A (p.Met1647Ile)
c.4881G>A (p.Met1627Ile)
c.4863G>A (p.Met1621Ile)
c.4614G>A (p.Met1538Ile)
c.4842G>A (p.Met1614Ile)
c.4608G>A (p.Met1536Ile)
c.2061G>A (p.Met687Ile)
c.1665G>A (p.Met555Ile)
c.2214G>A (p.Met738Ile)
c.2193G>A (p.Met731Ile)
 dbSNP
1g.7752507G>CCA338145430CAMTA1c.1686G>C (p.Met562Ile)
c.2025G>C (p.Met675Ile)
c.4593G>C (p.Met1531Ile)
c.2254G>C
c.*4465G>C (n.*4465G>C)
c.4524G>C (p.Met1508Ile)
c.4521G>C (p.Met1507Ile)
c.2778G>C (p.Met926Ile)
c.1983G>C (p.Met661Ile)
c.2004G>C (p.Met668Ile)
n.1106G>C
c.1644G>C (p.Met548Ile)
c.2278G>C
n.3328G>C
n.2612G>C
c.616G>C
c.136G>C
c.4932G>C (p.Met1644Ile)
c.624G>C (p.Met208Ile)
c.629G>C
c.1823G>C
c.4953G>C (p.Met1651Ile)
c.4941G>C (p.Met1647Ile)
c.4881G>C (p.Met1627Ile)
c.4863G>C (p.Met1621Ile)
c.4614G>C (p.Met1538Ile)
c.4842G>C (p.Met1614Ile)
c.4608G>C (p.Met1536Ile)
c.2061G>C (p.Met687Ile)
c.1665G>C (p.Met555Ile)
c.2214G>C (p.Met738Ile)
c.2193G>C (p.Met731Ile)
1g.7752507G=CA1152049633CAMTA1c.1686G= (p.Met562=)
c.2025G= (p.Met675=)
c.4593G= (p.Met1531=)
c.2254G=
c.*4465G= (n.*4465G=)
c.4524G= (p.Met1508=)
c.4521G= (p.Met1507=)
c.2778G= (p.Met926=)
c.1983G= (p.Met661=)
c.2004G= (p.Met668=)
n.1106G=
c.1644G= (p.Met548=)
c.2278G=
n.3328G=
n.2612G=
c.616G=
c.136G=
c.4932G= (p.Met1644=)
c.624G= (p.Met208=)
c.629G=
c.1823G=
c.4953G= (p.Met1651=)
c.4941G= (p.Met1647=)
c.4881G= (p.Met1627=)
c.4863G= (p.Met1621=)
c.4614G= (p.Met1538=)
c.4842G= (p.Met1614=)
c.4608G= (p.Met1536=)
c.2061G= (p.Met687=)
c.1665G= (p.Met555=)
c.2214G= (p.Met738=)
c.2193G= (p.Met731=)
1g.7752507G>TCA338145425CAMTA1c.1686G>T (p.Met562Ile)
c.2025G>T (p.Met675Ile)
c.4593G>T (p.Met1531Ile)
c.2254G>T
c.*4465G>T (n.*4465G>T)
c.4524G>T (p.Met1508Ile)
c.4521G>T (p.Met1507Ile)
c.2778G>T (p.Met926Ile)
c.1983G>T (p.Met661Ile)
c.2004G>T (p.Met668Ile)
n.1106G>T
c.1644G>T (p.Met548Ile)
c.2278G>T
n.3328G>T
n.2612G>T
c.616G>T
c.136G>T
c.4932G>T (p.Met1644Ile)
c.624G>T (p.Met208Ile)
c.629G>T
c.1823G>T
c.4953G>T (p.Met1651Ile)
c.4941G>T (p.Met1647Ile)
c.4881G>T (p.Met1627Ile)
c.4863G>T (p.Met1621Ile)
c.4614G>T (p.Met1538Ile)
c.4842G>T (p.Met1614Ile)
c.4608G>T (p.Met1536Ile)
c.2061G>T (p.Met687Ile)
c.1665G>T (p.Met555Ile)
c.2214G>T (p.Met738Ile)
c.2193G>T (p.Met731Ile)
1g.7752508A>CCA415826027CAMTA1c.1687A>C (p.Arg563=)
c.2026A>C (p.Arg676=)
c.4594A>C (p.Arg1532=)
c.2255A>C
c.*4466A>C (n.*4466A>C)
c.4525A>C (p.Arg1509=)
c.4522A>C (p.Arg1508=)
c.2779A>C (p.Arg927=)
c.1984A>C (p.Arg662=)
c.2005A>C (p.Arg669=)
n.1107A>C
c.1645A>C (p.Arg549=)
c.2279A>C
n.3329A>C
n.2613A>C
c.617A>C
c.137A>C
c.4933A>C (p.Arg1645=)
c.625A>C (p.Arg209=)
c.630A>C
c.1824A>C
c.4954A>C (p.Arg1652=)
c.4942A>C (p.Arg1648=)
c.4882A>C (p.Arg1628=)
c.4864A>C (p.Arg1622=)
c.4615A>C (p.Arg1539=)
c.4843A>C (p.Arg1615=)
c.4609A>C (p.Arg1537=)
c.2062A>C (p.Arg688=)
c.1666A>C (p.Arg556=)
c.2215A>C (p.Arg739=)
c.2194A>C (p.Arg732=)
 gnomAD v4
1g.7752508A>GCA338145433CAMTA1c.1687A>G (p.Arg563Gly)
c.2026A>G (p.Arg676Gly)
c.4594A>G (p.Arg1532Gly)
c.2255A>G
c.*4466A>G (n.*4466A>G)
c.4525A>G (p.Arg1509Gly)
c.4522A>G (p.Arg1508Gly)
c.2779A>G (p.Arg927Gly)
c.1984A>G (p.Arg662Gly)
c.2005A>G (p.Arg669Gly)
n.1107A>G
c.1645A>G (p.Arg549Gly)
c.2279A>G
n.3329A>G
n.2613A>G
c.617A>G
c.137A>G
c.4933A>G (p.Arg1645Gly)
c.625A>G (p.Arg209Gly)
c.630A>G
c.1824A>G
c.4954A>G (p.Arg1652Gly)
c.4942A>G (p.Arg1648Gly)
c.4882A>G (p.Arg1628Gly)
c.4864A>G (p.Arg1622Gly)
c.4615A>G (p.Arg1539Gly)
c.4843A>G (p.Arg1615Gly)
c.4609A>G (p.Arg1537Gly)
c.2062A>G (p.Arg688Gly)
c.1666A>G (p.Arg556Gly)
c.2215A>G (p.Arg739Gly)
c.2194A>G (p.Arg732Gly)
1g.7752508A>TCA338145437CAMTA1c.1687A>T (p.Arg563Trp)
c.2026A>T (p.Arg676Trp)
c.4594A>T (p.Arg1532Trp)
c.2255A>T
c.*4466A>T (n.*4466A>T)
c.4525A>T (p.Arg1509Trp)
c.4522A>T (p.Arg1508Trp)
c.2779A>T (p.Arg927Trp)
c.1984A>T (p.Arg662Trp)
c.2005A>T (p.Arg669Trp)
n.1107A>T
c.1645A>T (p.Arg549Trp)
c.2279A>T
n.3329A>T
n.2613A>T
c.617A>T
c.137A>T
c.4933A>T (p.Arg1645Trp)
c.625A>T (p.Arg209Trp)
c.630A>T
c.1824A>T
c.4954A>T (p.Arg1652Trp)
c.4942A>T (p.Arg1648Trp)
c.4882A>T (p.Arg1628Trp)
c.4864A>T (p.Arg1622Trp)
c.4615A>T (p.Arg1539Trp)
c.4843A>T (p.Arg1615Trp)
c.4609A>T (p.Arg1537Trp)
c.2062A>T (p.Arg688Trp)
c.1666A>T (p.Arg556Trp)
c.2215A>T (p.Arg739Trp)
c.2194A>T (p.Arg732Trp)
1g.7752509G>ACA567287CAMTA1c.1688G>A (p.Arg563Lys)
c.2027G>A (p.Arg676Lys)
c.4595G>A (p.Arg1532Lys)
c.2256G>A
c.*4467G>A (n.*4467G>A)
c.4526G>A (p.Arg1509Lys)
c.4523G>A (p.Arg1508Lys)
c.2780G>A (p.Arg927Lys)
c.1985G>A (p.Arg662Lys)
c.2006G>A (p.Arg669Lys)
n.1108G>A
c.1646G>A (p.Arg549Lys)
c.2280G>A
n.3330G>A
n.2614G>A
c.618G>A
c.138G>A
c.4934G>A (p.Arg1645Lys)
c.626G>A (p.Arg209Lys)
c.631G>A
c.1825G>A
c.4955G>A (p.Arg1652Lys)
c.4943G>A (p.Arg1648Lys)
c.4883G>A (p.Arg1628Lys)
c.4865G>A (p.Arg1622Lys)
c.4616G>A (p.Arg1539Lys)
c.4844G>A (p.Arg1615Lys)
c.4610G>A (p.Arg1537Lys)
c.2063G>A (p.Arg688Lys)
c.1667G>A (p.Arg556Lys)
c.2216G>A (p.Arg739Lys)
c.2195G>A (p.Arg732Lys)
 dbSNP ExAC
1g.7752509G>CCA338145450CAMTA1c.1688G>C (p.Arg563Thr)
c.2027G>C (p.Arg676Thr)
c.4595G>C (p.Arg1532Thr)
c.2256G>C
c.*4467G>C (n.*4467G>C)
c.4526G>C (p.Arg1509Thr)
c.4523G>C (p.Arg1508Thr)
c.2780G>C (p.Arg927Thr)
c.1985G>C (p.Arg662Thr)
c.2006G>C (p.Arg669Thr)
n.1108G>C
c.1646G>C (p.Arg549Thr)
c.2280G>C
n.3330G>C
n.2614G>C
c.618G>C
c.138G>C
c.4934G>C (p.Arg1645Thr)
c.626G>C (p.Arg209Thr)
c.631G>C
c.1825G>C
c.4955G>C (p.Arg1652Thr)
c.4943G>C (p.Arg1648Thr)
c.4883G>C (p.Arg1628Thr)
c.4865G>C (p.Arg1622Thr)
c.4616G>C (p.Arg1539Thr)
c.4844G>C (p.Arg1615Thr)
c.4610G>C (p.Arg1537Thr)
c.2063G>C (p.Arg688Thr)
c.1667G>C (p.Arg556Thr)
c.2216G>C (p.Arg739Thr)
c.2195G>C (p.Arg732Thr)
1g.7752509G=CA1142348976CAMTA1c.1688G= (p.Arg563=)
c.2027G= (p.Arg676=)
c.4595G= (p.Arg1532=)
c.2256G=
c.*4467G= (n.*4467G=)
c.4526G= (p.Arg1509=)
c.4523G= (p.Arg1508=)
c.2780G= (p.Arg927=)
c.1985G= (p.Arg662=)
c.2006G= (p.Arg669=)
n.1108G=
c.1646G= (p.Arg549=)
c.2280G=
n.3330G=
n.2614G=
c.618G=
c.138G=
c.4934G= (p.Arg1645=)
c.626G= (p.Arg209=)
c.631G=
c.1825G=
c.4955G= (p.Arg1652=)
c.4943G= (p.Arg1648=)
c.4883G= (p.Arg1628=)
c.4865G= (p.Arg1622=)
c.4616G= (p.Arg1539=)
c.4844G= (p.Arg1615=)
c.4610G= (p.Arg1537=)
c.2063G= (p.Arg688=)
c.1667G= (p.Arg556=)
c.2216G= (p.Arg739=)
c.2195G= (p.Arg732=)
1g.7752509G>TCA338145445CAMTA1c.1688G>T (p.Arg563Met)
c.2027G>T (p.Arg676Met)
c.4595G>T (p.Arg1532Met)
c.2256G>T
c.*4467G>T (n.*4467G>T)
c.4526G>T (p.Arg1509Met)
c.4523G>T (p.Arg1508Met)
c.2780G>T (p.Arg927Met)
c.1985G>T (p.Arg662Met)
c.2006G>T (p.Arg669Met)
n.1108G>T
c.1646G>T (p.Arg549Met)
c.2280G>T
n.3330G>T
n.2614G>T
c.618G>T
c.138G>T
c.4934G>T (p.Arg1645Met)
c.626G>T (p.Arg209Met)
c.631G>T
c.1825G>T
c.4955G>T (p.Arg1652Met)
c.4943G>T (p.Arg1648Met)
c.4883G>T (p.Arg1628Met)
c.4865G>T (p.Arg1622Met)
c.4616G>T (p.Arg1539Met)
c.4844G>T (p.Arg1615Met)
c.4610G>T (p.Arg1537Met)
c.2063G>T (p.Arg688Met)
c.1667G>T (p.Arg556Met)
c.2216G>T (p.Arg739Met)
c.2195G>T (p.Arg732Met)

Number of alleles fetched