Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.70777118T>A | CA367669744 | AUTS2 | c.16T>A (p.Cys6Ser) c.1948T>A (p.Cys650Ser) c.46T>A (p.Cys16Ser) c.283T>A (p.Cys95Ser) c.41T>A n.616T>A c.529T>A (p.Cys177Ser) c.574T>A (p.Cys192Ser) c.1945T>A (p.Cys649Ser) c.279T>A n.259T>A c.813T>A c.1876T>A (p.Cys626Ser) c.46T>A c.528T>A n.614T>A n.445T>A n.316T>A c.1204T>A (p.Cys402Ser) c.1132T>A (p.Cys378Ser) c.595T>A (p.Cys199Ser) c.1969T>A (p.Cys657Ser) c.1966T>A (p.Cys656Ser) c.1903T>A (p.Cys635Ser) c.1897T>A (p.Cys633Ser) c.1867T>A (p.Cys623Ser) c.1705T>A (p.Cys569Ser) c.1678T>A (p.Cys560Ser) c.1495T>A (p.Cys499Ser) c.1468T>A (p.Cys490Ser) | |
7 | g.70777118T>C | CA367669745 | AUTS2 | c.16T>C (p.Cys6Arg) c.1948T>C (p.Cys650Arg) c.46T>C (p.Cys16Arg) c.283T>C (p.Cys95Arg) c.41T>C n.616T>C c.529T>C (p.Cys177Arg) c.574T>C (p.Cys192Arg) c.1945T>C (p.Cys649Arg) c.279T>C n.259T>C c.813T>C c.1876T>C (p.Cys626Arg) c.46T>C c.528T>C n.614T>C n.445T>C n.316T>C c.1204T>C (p.Cys402Arg) c.1132T>C (p.Cys378Arg) c.595T>C (p.Cys199Arg) c.1969T>C (p.Cys657Arg) c.1966T>C (p.Cys656Arg) c.1903T>C (p.Cys635Arg) c.1897T>C (p.Cys633Arg) c.1867T>C (p.Cys623Arg) c.1705T>C (p.Cys569Arg) c.1678T>C (p.Cys560Arg) c.1495T>C (p.Cys499Arg) c.1468T>C (p.Cys490Arg) | |
7 | g.70777118T>G | CA367669746 | AUTS2 | c.16T>G (p.Cys6Gly) c.1948T>G (p.Cys650Gly) c.46T>G (p.Cys16Gly) c.283T>G (p.Cys95Gly) c.41T>G n.616T>G c.529T>G (p.Cys177Gly) c.574T>G (p.Cys192Gly) c.1945T>G (p.Cys649Gly) c.279T>G n.259T>G c.813T>G c.1876T>G (p.Cys626Gly) c.46T>G c.528T>G n.614T>G n.445T>G n.316T>G c.1204T>G (p.Cys402Gly) c.1132T>G (p.Cys378Gly) c.595T>G (p.Cys199Gly) c.1969T>G (p.Cys657Gly) c.1966T>G (p.Cys656Gly) c.1903T>G (p.Cys635Gly) c.1897T>G (p.Cys633Gly) c.1867T>G (p.Cys623Gly) c.1705T>G (p.Cys569Gly) c.1678T>G (p.Cys560Gly) c.1495T>G (p.Cys499Gly) c.1468T>G (p.Cys490Gly) | |
7 | g.70777119G>A | CA367669747 | AUTS2 | c.17G>A (p.Cys6Tyr) c.1949G>A (p.Cys650Tyr) c.47G>A (p.Cys16Tyr) c.284G>A (p.Cys95Tyr) c.42G>A n.617G>A c.530G>A (p.Cys177Tyr) c.575G>A (p.Cys192Tyr) c.1946G>A (p.Cys649Tyr) c.280G>A n.260G>A c.814G>A c.1877G>A (p.Cys626Tyr) c.47G>A c.529G>A n.615G>A n.446G>A n.317G>A c.1205G>A (p.Cys402Tyr) c.1133G>A (p.Cys378Tyr) c.596G>A (p.Cys199Tyr) c.1970G>A (p.Cys657Tyr) c.1967G>A (p.Cys656Tyr) c.1904G>A (p.Cys635Tyr) c.1898G>A (p.Cys633Tyr) c.1868G>A (p.Cys623Tyr) c.1706G>A (p.Cys569Tyr) c.1679G>A (p.Cys560Tyr) c.1496G>A (p.Cys499Tyr) c.1469G>A (p.Cys490Tyr) | gnomAD v4 COSMIC |
7 | g.70777119G>C | CA367669748 | AUTS2 | c.17G>C (p.Cys6Ser) c.1949G>C (p.Cys650Ser) c.47G>C (p.Cys16Ser) c.284G>C (p.Cys95Ser) c.42G>C n.617G>C c.530G>C (p.Cys177Ser) c.575G>C (p.Cys192Ser) c.1946G>C (p.Cys649Ser) c.280G>C n.260G>C c.814G>C c.1877G>C (p.Cys626Ser) c.47G>C c.529G>C n.615G>C n.446G>C n.317G>C c.1205G>C (p.Cys402Ser) c.1133G>C (p.Cys378Ser) c.596G>C (p.Cys199Ser) c.1970G>C (p.Cys657Ser) c.1967G>C (p.Cys656Ser) c.1904G>C (p.Cys635Ser) c.1898G>C (p.Cys633Ser) c.1868G>C (p.Cys623Ser) c.1706G>C (p.Cys569Ser) c.1679G>C (p.Cys560Ser) c.1496G>C (p.Cys499Ser) c.1469G>C (p.Cys490Ser) | |
7 | g.70777119G>T | CA367669749 | AUTS2 | c.17G>T (p.Cys6Phe) c.1949G>T (p.Cys650Phe) c.47G>T (p.Cys16Phe) c.284G>T (p.Cys95Phe) c.42G>T n.617G>T c.530G>T (p.Cys177Phe) c.575G>T (p.Cys192Phe) c.1946G>T (p.Cys649Phe) c.280G>T n.260G>T c.814G>T c.1877G>T (p.Cys626Phe) c.47G>T c.529G>T n.615G>T n.446G>T n.317G>T c.1205G>T (p.Cys402Phe) c.1133G>T (p.Cys378Phe) c.596G>T (p.Cys199Phe) c.1970G>T (p.Cys657Phe) c.1967G>T (p.Cys656Phe) c.1904G>T (p.Cys635Phe) c.1898G>T (p.Cys633Phe) c.1868G>T (p.Cys623Phe) c.1706G>T (p.Cys569Phe) c.1679G>T (p.Cys560Phe) c.1496G>T (p.Cys499Phe) c.1469G>T (p.Cys490Phe) | |
7 | g.70777120T>A | CA367669750 | AUTS2 | c.18T>A (p.Cys6Ter) c.1950T>A (p.Cys650Ter) c.48T>A (p.Cys16Ter) c.285T>A (p.Cys95Ter) c.43T>A n.618T>A c.531T>A (p.Cys177Ter) c.576T>A (p.Cys192Ter) c.1947T>A (p.Cys649Ter) c.281T>A n.261T>A c.815T>A c.1878T>A (p.Cys626Ter) c.48T>A c.530T>A n.616T>A n.447T>A n.318T>A c.1206T>A (p.Cys402Ter) c.1134T>A (p.Cys378Ter) c.597T>A (p.Cys199Ter) c.1971T>A (p.Cys657Ter) c.1968T>A (p.Cys656Ter) c.1905T>A (p.Cys635Ter) c.1899T>A (p.Cys633Ter) c.1869T>A (p.Cys623Ter) c.1707T>A (p.Cys569Ter) c.1680T>A (p.Cys560Ter) c.1497T>A (p.Cys499Ter) c.1470T>A (p.Cys490Ter) | |
7 | g.70777120T>C | CA455803118 | AUTS2 | c.18T>C (p.Cys6=) c.1950T>C (p.Cys650=) c.48T>C (p.Cys16=) c.285T>C (p.Cys95=) c.43T>C n.618T>C c.531T>C (p.Cys177=) c.576T>C (p.Cys192=) c.1947T>C (p.Cys649=) c.281T>C n.261T>C c.815T>C c.1878T>C (p.Cys626=) c.48T>C c.530T>C n.616T>C n.447T>C n.318T>C c.1206T>C (p.Cys402=) c.1134T>C (p.Cys378=) c.597T>C (p.Cys199=) c.1971T>C (p.Cys657=) c.1968T>C (p.Cys656=) c.1905T>C (p.Cys635=) c.1899T>C (p.Cys633=) c.1869T>C (p.Cys623=) c.1707T>C (p.Cys569=) c.1680T>C (p.Cys560=) c.1497T>C (p.Cys499=) c.1470T>C (p.Cys490=) | |
7 | g.70777120T>G | CA367669751 | AUTS2 | c.18T>G (p.Cys6Trp) c.1950T>G (p.Cys650Trp) c.48T>G (p.Cys16Trp) c.285T>G (p.Cys95Trp) c.43T>G n.618T>G c.531T>G (p.Cys177Trp) c.576T>G (p.Cys192Trp) c.1947T>G (p.Cys649Trp) c.281T>G n.261T>G c.815T>G c.1878T>G (p.Cys626Trp) c.48T>G c.530T>G n.616T>G n.447T>G n.318T>G c.1206T>G (p.Cys402Trp) c.1134T>G (p.Cys378Trp) c.597T>G (p.Cys199Trp) c.1971T>G (p.Cys657Trp) c.1968T>G (p.Cys656Trp) c.1905T>G (p.Cys635Trp) c.1899T>G (p.Cys633Trp) c.1869T>G (p.Cys623Trp) c.1707T>G (p.Cys569Trp) c.1680T>G (p.Cys560Trp) c.1497T>G (p.Cys499Trp) c.1470T>G (p.Cys490Trp) | |
7 | g.70777121G>A | CA367669752 | AUTS2 | c.19G>A (p.Ala7Thr) c.1951G>A (p.Ala651Thr) c.49G>A (p.Ala17Thr) c.286G>A (p.Ala96Thr) c.44G>A n.619G>A c.532G>A (p.Ala178Thr) c.577G>A (p.Ala193Thr) c.1948G>A (p.Ala650Thr) c.282G>A n.262G>A c.816G>A c.1879G>A (p.Ala627Thr) c.49G>A c.531G>A n.617G>A n.448G>A n.319G>A c.1207G>A (p.Ala403Thr) c.1135G>A (p.Ala379Thr) c.598G>A (p.Ala200Thr) c.1972G>A (p.Ala658Thr) c.1969G>A (p.Ala657Thr) c.1906G>A (p.Ala636Thr) c.1900G>A (p.Ala634Thr) c.1870G>A (p.Ala624Thr) c.1708G>A (p.Ala570Thr) c.1681G>A (p.Ala561Thr) c.1498G>A (p.Ala500Thr) c.1471G>A (p.Ala491Thr) | ClinVar dbSNP COSMIC |
7 | g.70777121G>C | CA367669753 | AUTS2 | c.19G>C (p.Ala7Pro) c.1951G>C (p.Ala651Pro) c.49G>C (p.Ala17Pro) c.286G>C (p.Ala96Pro) c.44G>C n.619G>C c.532G>C (p.Ala178Pro) c.577G>C (p.Ala193Pro) c.1948G>C (p.Ala650Pro) c.282G>C n.262G>C c.816G>C c.1879G>C (p.Ala627Pro) c.49G>C c.531G>C n.617G>C n.448G>C n.319G>C c.1207G>C (p.Ala403Pro) c.1135G>C (p.Ala379Pro) c.598G>C (p.Ala200Pro) c.1972G>C (p.Ala658Pro) c.1969G>C (p.Ala657Pro) c.1906G>C (p.Ala636Pro) c.1900G>C (p.Ala634Pro) c.1870G>C (p.Ala624Pro) c.1708G>C (p.Ala570Pro) c.1681G>C (p.Ala561Pro) c.1498G>C (p.Ala500Pro) c.1471G>C (p.Ala491Pro) | gnomAD v4 |
7 | g.70777121G= | CA1716145436 | AUTS2 | c.19G= (p.Ala7=) c.1951G= (p.Ala651=) c.49G= (p.Ala17=) c.286G= (p.Ala96=) c.44G= n.619G= c.532G= (p.Ala178=) c.577G= (p.Ala193=) c.1948G= (p.Ala650=) c.282G= n.262G= c.816G= c.1879G= (p.Ala627=) c.49G= c.531G= n.617G= n.448G= n.319G= c.1207G= (p.Ala403=) c.1135G= (p.Ala379=) c.598G= (p.Ala200=) c.1972G= (p.Ala658=) c.1969G= (p.Ala657=) c.1906G= (p.Ala636=) c.1900G= (p.Ala634=) c.1870G= (p.Ala624=) c.1708G= (p.Ala570=) c.1681G= (p.Ala561=) c.1498G= (p.Ala500=) c.1471G= (p.Ala491=) | |
7 | g.70777121G>T | CA367669754 | AUTS2 | c.19G>T (p.Ala7Ser) c.1951G>T (p.Ala651Ser) c.49G>T (p.Ala17Ser) c.286G>T (p.Ala96Ser) c.44G>T n.619G>T c.532G>T (p.Ala178Ser) c.577G>T (p.Ala193Ser) c.1948G>T (p.Ala650Ser) c.282G>T n.262G>T c.816G>T c.1879G>T (p.Ala627Ser) c.49G>T c.531G>T n.617G>T n.448G>T n.319G>T c.1207G>T (p.Ala403Ser) c.1135G>T (p.Ala379Ser) c.598G>T (p.Ala200Ser) c.1972G>T (p.Ala658Ser) c.1969G>T (p.Ala657Ser) c.1906G>T (p.Ala636Ser) c.1900G>T (p.Ala634Ser) c.1870G>T (p.Ala624Ser) c.1708G>T (p.Ala570Ser) c.1681G>T (p.Ala561Ser) c.1498G>T (p.Ala500Ser) c.1471G>T (p.Ala491Ser) | |
7 | g.70777122C>A | CA367669755 | AUTS2 | c.20C>A (p.Ala7Asp) c.1952C>A (p.Ala651Asp) c.50C>A (p.Ala17Asp) c.287C>A (p.Ala96Asp) c.45C>A n.620C>A c.533C>A (p.Ala178Asp) c.578C>A (p.Ala193Asp) c.1949C>A (p.Ala650Asp) c.283C>A n.263C>A c.817C>A c.1880C>A (p.Ala627Asp) c.50C>A c.532C>A n.618C>A n.449C>A n.320C>A c.1208C>A (p.Ala403Asp) c.1136C>A (p.Ala379Asp) c.599C>A (p.Ala200Asp) c.1973C>A (p.Ala658Asp) c.1970C>A (p.Ala657Asp) c.1907C>A (p.Ala636Asp) c.1901C>A (p.Ala634Asp) c.1871C>A (p.Ala624Asp) c.1709C>A (p.Ala570Asp) c.1682C>A (p.Ala561Asp) c.1499C>A (p.Ala500Asp) c.1472C>A (p.Ala491Asp) | |
7 | g.70777122C>G | CA367669756 | AUTS2 | c.20C>G (p.Ala7Gly) c.1952C>G (p.Ala651Gly) c.50C>G (p.Ala17Gly) c.287C>G (p.Ala96Gly) c.45C>G n.620C>G c.533C>G (p.Ala178Gly) c.578C>G (p.Ala193Gly) c.1949C>G (p.Ala650Gly) c.283C>G n.263C>G c.817C>G c.1880C>G (p.Ala627Gly) c.50C>G c.532C>G n.618C>G n.449C>G n.320C>G c.1208C>G (p.Ala403Gly) c.1136C>G (p.Ala379Gly) c.599C>G (p.Ala200Gly) c.1973C>G (p.Ala658Gly) c.1970C>G (p.Ala657Gly) c.1907C>G (p.Ala636Gly) c.1901C>G (p.Ala634Gly) c.1871C>G (p.Ala624Gly) c.1709C>G (p.Ala570Gly) c.1682C>G (p.Ala561Gly) c.1499C>G (p.Ala500Gly) c.1472C>G (p.Ala491Gly) | |
7 | g.70777122C>T | CA367669757 | AUTS2 | c.20C>T (p.Ala7Val) c.1952C>T (p.Ala651Val) c.50C>T (p.Ala17Val) c.287C>T (p.Ala96Val) c.45C>T n.620C>T c.533C>T (p.Ala178Val) c.578C>T (p.Ala193Val) c.1949C>T (p.Ala650Val) c.283C>T n.263C>T c.817C>T c.1880C>T (p.Ala627Val) c.50C>T c.532C>T n.618C>T n.449C>T n.320C>T c.1208C>T (p.Ala403Val) c.1136C>T (p.Ala379Val) c.599C>T (p.Ala200Val) c.1973C>T (p.Ala658Val) c.1970C>T (p.Ala657Val) c.1907C>T (p.Ala636Val) c.1901C>T (p.Ala634Val) c.1871C>T (p.Ala624Val) c.1709C>T (p.Ala570Val) c.1682C>T (p.Ala561Val) c.1499C>T (p.Ala500Val) c.1472C>T (p.Ala491Val) | |
7 | g.70777123T>A | CA4280858 | AUTS2 | c.21T>A (p.Ala7=) c.1953T>A (p.Ala651=) c.51T>A (p.Ala17=) c.288T>A (p.Ala96=) c.46T>A n.621T>A c.534T>A (p.Ala178=) c.579T>A (p.Ala193=) c.1950T>A (p.Ala650=) c.284T>A n.264T>A c.818T>A c.1881T>A (p.Ala627=) c.51T>A c.533T>A n.619T>A n.450T>A n.321T>A c.1209T>A (p.Ala403=) c.1137T>A (p.Ala379=) c.600T>A (p.Ala200=) c.1974T>A (p.Ala658=) c.1971T>A (p.Ala657=) c.1908T>A (p.Ala636=) c.1902T>A (p.Ala634=) c.1872T>A (p.Ala624=) c.1710T>A (p.Ala570=) c.1683T>A (p.Ala561=) c.1500T>A (p.Ala500=) c.1473T>A (p.Ala491=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70777123T>C | CA455803121 | AUTS2 | c.21T>C (p.Ala7=) c.1953T>C (p.Ala651=) c.51T>C (p.Ala17=) c.288T>C (p.Ala96=) c.46T>C n.621T>C c.534T>C (p.Ala178=) c.579T>C (p.Ala193=) c.1950T>C (p.Ala650=) c.284T>C n.264T>C c.818T>C c.1881T>C (p.Ala627=) c.51T>C c.533T>C n.619T>C n.450T>C n.321T>C c.1209T>C (p.Ala403=) c.1137T>C (p.Ala379=) c.600T>C (p.Ala200=) c.1974T>C (p.Ala658=) c.1971T>C (p.Ala657=) c.1908T>C (p.Ala636=) c.1902T>C (p.Ala634=) c.1872T>C (p.Ala624=) c.1710T>C (p.Ala570=) c.1683T>C (p.Ala561=) c.1500T>C (p.Ala500=) c.1473T>C (p.Ala491=) | gnomAD v4 |
7 | g.70777123T>G | CA455803120 | AUTS2 | c.21T>G (p.Ala7=) c.1953T>G (p.Ala651=) c.51T>G (p.Ala17=) c.288T>G (p.Ala96=) c.46T>G n.621T>G c.534T>G (p.Ala178=) c.579T>G (p.Ala193=) c.1950T>G (p.Ala650=) c.284T>G n.264T>G c.818T>G c.1881T>G (p.Ala627=) c.51T>G c.533T>G n.619T>G n.450T>G n.321T>G c.1209T>G (p.Ala403=) c.1137T>G (p.Ala379=) c.600T>G (p.Ala200=) c.1974T>G (p.Ala658=) c.1971T>G (p.Ala657=) c.1908T>G (p.Ala636=) c.1902T>G (p.Ala634=) c.1872T>G (p.Ala624=) c.1710T>G (p.Ala570=) c.1683T>G (p.Ala561=) c.1500T>G (p.Ala500=) c.1473T>G (p.Ala491=) | |
7 | g.70777123T= | CA1716145443 | AUTS2 | c.21T= (p.Ala7=) c.1953T= (p.Ala651=) c.51T= (p.Ala17=) c.288T= (p.Ala96=) c.46T= n.621T= c.534T= (p.Ala178=) c.579T= (p.Ala193=) c.1950T= (p.Ala650=) c.284T= n.264T= c.818T= c.1881T= (p.Ala627=) c.51T= c.533T= n.619T= n.450T= n.321T= c.1209T= (p.Ala403=) c.1137T= (p.Ala379=) c.600T= (p.Ala200=) c.1974T= (p.Ala658=) c.1971T= (p.Ala657=) c.1908T= (p.Ala636=) c.1902T= (p.Ala634=) c.1872T= (p.Ala624=) c.1710T= (p.Ala570=) c.1683T= (p.Ala561=) c.1500T= (p.Ala500=) c.1473T= (p.Ala491=) | |
7 | g.70777124A>C | CA367669758 | AUTS2 | c.22A>C (p.Met8Leu) c.1954A>C (p.Met652Leu) c.52A>C (p.Met18Leu) c.289A>C (p.Met97Leu) c.47A>C n.622A>C c.535A>C (p.Met179Leu) c.580A>C (p.Met194Leu) c.1951A>C (p.Met651Leu) c.285A>C n.265A>C c.819A>C c.1882A>C (p.Met628Leu) c.52A>C c.534A>C n.620A>C n.451A>C n.322A>C c.1210A>C (p.Met404Leu) c.1138A>C (p.Met380Leu) c.601A>C (p.Met201Leu) c.1975A>C (p.Met659Leu) c.1972A>C (p.Met658Leu) c.1909A>C (p.Met637Leu) c.1903A>C (p.Met635Leu) c.1873A>C (p.Met625Leu) c.1711A>C (p.Met571Leu) c.1684A>C (p.Met562Leu) c.1501A>C (p.Met501Leu) c.1474A>C (p.Met492Leu) | gnomAD v4 |
7 | g.70777124A>G | CA367669759 | AUTS2 | c.22A>G (p.Met8Val) c.1954A>G (p.Met652Val) c.52A>G (p.Met18Val) c.289A>G (p.Met97Val) c.47A>G n.622A>G c.535A>G (p.Met179Val) c.580A>G (p.Met194Val) c.1951A>G (p.Met651Val) c.285A>G n.265A>G c.819A>G c.1882A>G (p.Met628Val) c.52A>G c.534A>G n.620A>G n.451A>G n.322A>G c.1210A>G (p.Met404Val) c.1138A>G (p.Met380Val) c.601A>G (p.Met201Val) c.1975A>G (p.Met659Val) c.1972A>G (p.Met658Val) c.1909A>G (p.Met637Val) c.1903A>G (p.Met635Val) c.1873A>G (p.Met625Val) c.1711A>G (p.Met571Val) c.1684A>G (p.Met562Val) c.1501A>G (p.Met501Val) c.1474A>G (p.Met492Val) | gnomAD v4 |
7 | g.70777124A>T | CA367669760 | AUTS2 | c.22A>T (p.Met8Leu) c.1954A>T (p.Met652Leu) c.52A>T (p.Met18Leu) c.289A>T (p.Met97Leu) c.47A>T n.622A>T c.535A>T (p.Met179Leu) c.580A>T (p.Met194Leu) c.1951A>T (p.Met651Leu) c.285A>T n.265A>T c.819A>T c.1882A>T (p.Met628Leu) c.52A>T c.534A>T n.620A>T n.451A>T n.322A>T c.1210A>T (p.Met404Leu) c.1138A>T (p.Met380Leu) c.601A>T (p.Met201Leu) c.1975A>T (p.Met659Leu) c.1972A>T (p.Met658Leu) c.1909A>T (p.Met637Leu) c.1903A>T (p.Met635Leu) c.1873A>T (p.Met625Leu) c.1711A>T (p.Met571Leu) c.1684A>T (p.Met562Leu) c.1501A>T (p.Met501Leu) c.1474A>T (p.Met492Leu) | |
7 | g.70777125T>A | CA367669761 | AUTS2 | c.23T>A (p.Met8Lys) c.1955T>A (p.Met652Lys) c.53T>A (p.Met18Lys) c.290T>A (p.Met97Lys) c.48T>A n.623T>A c.536T>A (p.Met179Lys) c.581T>A (p.Met194Lys) c.1952T>A (p.Met651Lys) c.286T>A n.266T>A c.820T>A c.1883T>A (p.Met628Lys) c.53T>A c.535T>A n.621T>A n.452T>A n.323T>A c.1211T>A (p.Met404Lys) c.1139T>A (p.Met380Lys) c.602T>A (p.Met201Lys) c.1976T>A (p.Met659Lys) c.1973T>A (p.Met658Lys) c.1910T>A (p.Met637Lys) c.1904T>A (p.Met635Lys) c.1874T>A (p.Met625Lys) c.1712T>A (p.Met571Lys) c.1685T>A (p.Met562Lys) c.1502T>A (p.Met501Lys) c.1475T>A (p.Met492Lys) | |
7 | g.70777125T>C | CA367669762 | AUTS2 | c.23T>C (p.Met8Thr) c.1955T>C (p.Met652Thr) c.53T>C (p.Met18Thr) c.290T>C (p.Met97Thr) c.48T>C n.623T>C c.536T>C (p.Met179Thr) c.581T>C (p.Met194Thr) c.1952T>C (p.Met651Thr) c.286T>C n.266T>C c.820T>C c.1883T>C (p.Met628Thr) c.53T>C c.535T>C n.621T>C n.452T>C n.323T>C c.1211T>C (p.Met404Thr) c.1139T>C (p.Met380Thr) c.602T>C (p.Met201Thr) c.1976T>C (p.Met659Thr) c.1973T>C (p.Met658Thr) c.1910T>C (p.Met637Thr) c.1904T>C (p.Met635Thr) c.1874T>C (p.Met625Thr) c.1712T>C (p.Met571Thr) c.1685T>C (p.Met562Thr) c.1502T>C (p.Met501Thr) c.1475T>C (p.Met492Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.70777125T>G | CA367669763 | AUTS2 | c.23T>G (p.Met8Arg) c.1955T>G (p.Met652Arg) c.53T>G (p.Met18Arg) c.290T>G (p.Met97Arg) c.48T>G n.623T>G c.536T>G (p.Met179Arg) c.581T>G (p.Met194Arg) c.1952T>G (p.Met651Arg) c.286T>G n.266T>G c.820T>G c.1883T>G (p.Met628Arg) c.53T>G c.535T>G n.621T>G n.452T>G n.323T>G c.1211T>G (p.Met404Arg) c.1139T>G (p.Met380Arg) c.602T>G (p.Met201Arg) c.1976T>G (p.Met659Arg) c.1973T>G (p.Met658Arg) c.1910T>G (p.Met637Arg) c.1904T>G (p.Met635Arg) c.1874T>G (p.Met625Arg) c.1712T>G (p.Met571Arg) c.1685T>G (p.Met562Arg) c.1502T>G (p.Met501Arg) c.1475T>G (p.Met492Arg) | |
7 | g.70777125T= | CA1716145444 | AUTS2 | c.23T= (p.Met8=) c.1955T= (p.Met652=) c.53T= (p.Met18=) c.290T= (p.Met97=) c.48T= n.623T= c.536T= (p.Met179=) c.581T= (p.Met194=) c.1952T= (p.Met651=) c.286T= n.266T= c.820T= c.1883T= (p.Met628=) c.53T= c.535T= n.621T= n.452T= n.323T= c.1211T= (p.Met404=) c.1139T= (p.Met380=) c.602T= (p.Met201=) c.1976T= (p.Met659=) c.1973T= (p.Met658=) c.1910T= (p.Met637=) c.1904T= (p.Met635=) c.1874T= (p.Met625=) c.1712T= (p.Met571=) c.1685T= (p.Met562=) c.1502T= (p.Met501=) c.1475T= (p.Met492=) | |
7 | g.70777126G>A | CA367669764 | AUTS2 | c.24G>A (p.Met8Ile) c.1956G>A (p.Met652Ile) c.54G>A (p.Met18Ile) c.291G>A (p.Met97Ile) c.49G>A n.624G>A c.537G>A (p.Met179Ile) c.582G>A (p.Met194Ile) c.1953G>A (p.Met651Ile) c.287G>A n.267G>A c.821G>A c.1884G>A (p.Met628Ile) c.54G>A c.536G>A n.622G>A n.453G>A n.324G>A c.1212G>A (p.Met404Ile) c.1140G>A (p.Met380Ile) c.603G>A (p.Met201Ile) c.1977G>A (p.Met659Ile) c.1974G>A (p.Met658Ile) c.1911G>A (p.Met637Ile) c.1905G>A (p.Met635Ile) c.1875G>A (p.Met625Ile) c.1713G>A (p.Met571Ile) c.1686G>A (p.Met562Ile) c.1503G>A (p.Met501Ile) c.1476G>A (p.Met492Ile) | |
7 | g.70777126G>C | CA4280859 | AUTS2 | c.24G>C (p.Met8Ile) c.1956G>C (p.Met652Ile) c.54G>C (p.Met18Ile) c.291G>C (p.Met97Ile) c.49G>C n.624G>C c.537G>C (p.Met179Ile) c.582G>C (p.Met194Ile) c.1953G>C (p.Met651Ile) c.287G>C n.267G>C c.821G>C c.1884G>C (p.Met628Ile) c.54G>C c.536G>C n.622G>C n.453G>C n.324G>C c.1212G>C (p.Met404Ile) c.1140G>C (p.Met380Ile) c.603G>C (p.Met201Ile) c.1977G>C (p.Met659Ile) c.1974G>C (p.Met658Ile) c.1911G>C (p.Met637Ile) c.1905G>C (p.Met635Ile) c.1875G>C (p.Met625Ile) c.1713G>C (p.Met571Ile) c.1686G>C (p.Met562Ile) c.1503G>C (p.Met501Ile) c.1476G>C (p.Met492Ile) | dbSNP ExAC gnomAD v2 |
7 | g.70777126G= | CA1716145453 | AUTS2 | c.24G= (p.Met8=) c.1956G= (p.Met652=) c.54G= (p.Met18=) c.291G= (p.Met97=) c.49G= n.624G= c.537G= (p.Met179=) c.582G= (p.Met194=) c.1953G= (p.Met651=) c.287G= n.267G= c.821G= c.1884G= (p.Met628=) c.54G= c.536G= n.622G= n.453G= n.324G= c.1212G= (p.Met404=) c.1140G= (p.Met380=) c.603G= (p.Met201=) c.1977G= (p.Met659=) c.1974G= (p.Met658=) c.1911G= (p.Met637=) c.1905G= (p.Met635=) c.1875G= (p.Met625=) c.1713G= (p.Met571=) c.1686G= (p.Met562=) c.1503G= (p.Met501=) c.1476G= (p.Met492=) | |
7 | g.70777126G>T | CA367669765 | AUTS2 | c.24G>T (p.Met8Ile) c.1956G>T (p.Met652Ile) c.54G>T (p.Met18Ile) c.291G>T (p.Met97Ile) c.49G>T n.624G>T c.537G>T (p.Met179Ile) c.582G>T (p.Met194Ile) c.1953G>T (p.Met651Ile) c.287G>T n.267G>T c.821G>T c.1884G>T (p.Met628Ile) c.54G>T c.536G>T n.622G>T n.453G>T n.324G>T c.1212G>T (p.Met404Ile) c.1140G>T (p.Met380Ile) c.603G>T (p.Met201Ile) c.1977G>T (p.Met659Ile) c.1974G>T (p.Met658Ile) c.1911G>T (p.Met637Ile) c.1905G>T (p.Met635Ile) c.1875G>T (p.Met625Ile) c.1713G>T (p.Met571Ile) c.1686G>T (p.Met562Ile) c.1503G>T (p.Met501Ile) c.1476G>T (p.Met492Ile) | gnomAD v4 |
7 | g.70777127C>A | CA367669766 | AUTS2 | c.25C>A (p.His9Asn) c.1957C>A (p.His653Asn) c.55C>A (p.His19Asn) c.292C>A (p.His98Asn) c.50C>A n.625C>A c.538C>A (p.His180Asn) c.583C>A (p.His195Asn) c.1954C>A (p.His652Asn) c.288C>A n.268C>A c.822C>A c.1885C>A (p.His629Asn) c.55C>A c.537C>A n.623C>A n.454C>A n.325C>A c.1213C>A (p.His405Asn) c.1141C>A (p.His381Asn) c.604C>A (p.His202Asn) c.1978C>A (p.His660Asn) c.1975C>A (p.His659Asn) c.1912C>A (p.His638Asn) c.1906C>A (p.His636Asn) c.1876C>A (p.His626Asn) c.1714C>A (p.His572Asn) c.1687C>A (p.His563Asn) c.1504C>A (p.His502Asn) c.1477C>A (p.His493Asn) | |
7 | g.70777127C>G | CA367669767 | AUTS2 | c.25C>G (p.His9Asp) c.1957C>G (p.His653Asp) c.55C>G (p.His19Asp) c.292C>G (p.His98Asp) c.50C>G n.625C>G c.538C>G (p.His180Asp) c.583C>G (p.His195Asp) c.1954C>G (p.His652Asp) c.288C>G n.268C>G c.822C>G c.1885C>G (p.His629Asp) c.55C>G c.537C>G n.623C>G n.454C>G n.325C>G c.1213C>G (p.His405Asp) c.1141C>G (p.His381Asp) c.604C>G (p.His202Asp) c.1978C>G (p.His660Asp) c.1975C>G (p.His659Asp) c.1912C>G (p.His638Asp) c.1906C>G (p.His636Asp) c.1876C>G (p.His626Asp) c.1714C>G (p.His572Asp) c.1687C>G (p.His563Asp) c.1504C>G (p.His502Asp) c.1477C>G (p.His493Asp) | |
7 | g.70777127C>T | CA367669768 | AUTS2 | c.25C>T (p.His9Tyr) c.1957C>T (p.His653Tyr) c.55C>T (p.His19Tyr) c.292C>T (p.His98Tyr) c.50C>T n.625C>T c.538C>T (p.His180Tyr) c.583C>T (p.His195Tyr) c.1954C>T (p.His652Tyr) c.288C>T n.268C>T c.822C>T c.1885C>T (p.His629Tyr) c.55C>T c.537C>T n.623C>T n.454C>T n.325C>T c.1213C>T (p.His405Tyr) c.1141C>T (p.His381Tyr) c.604C>T (p.His202Tyr) c.1978C>T (p.His660Tyr) c.1975C>T (p.His659Tyr) c.1912C>T (p.His638Tyr) c.1906C>T (p.His636Tyr) c.1876C>T (p.His626Tyr) c.1714C>T (p.His572Tyr) c.1687C>T (p.His563Tyr) c.1504C>T (p.His502Tyr) c.1477C>T (p.His493Tyr) | |
7 | g.70777128A>C | CA367669769 | AUTS2 | c.26A>C (p.His9Pro) c.1958A>C (p.His653Pro) c.56A>C (p.His19Pro) c.293A>C (p.His98Pro) c.51A>C n.626A>C c.539A>C (p.His180Pro) c.584A>C (p.His195Pro) c.1955A>C (p.His652Pro) c.289A>C n.269A>C c.823A>C c.1886A>C (p.His629Pro) c.56A>C c.538A>C n.624A>C n.455A>C n.326A>C c.1214A>C (p.His405Pro) c.1142A>C (p.His381Pro) c.605A>C (p.His202Pro) c.1979A>C (p.His660Pro) c.1976A>C (p.His659Pro) c.1913A>C (p.His638Pro) c.1907A>C (p.His636Pro) c.1877A>C (p.His626Pro) c.1715A>C (p.His572Pro) c.1688A>C (p.His563Pro) c.1505A>C (p.His502Pro) c.1478A>C (p.His493Pro) | |
7 | g.70777128A>G | CA367669771 | AUTS2 | c.26A>G (p.His9Arg) c.1958A>G (p.His653Arg) c.56A>G (p.His19Arg) c.293A>G (p.His98Arg) c.51A>G n.626A>G c.539A>G (p.His180Arg) c.584A>G (p.His195Arg) c.1955A>G (p.His652Arg) c.289A>G n.269A>G c.823A>G c.1886A>G (p.His629Arg) c.56A>G c.538A>G n.624A>G n.455A>G n.326A>G c.1214A>G (p.His405Arg) c.1142A>G (p.His381Arg) c.605A>G (p.His202Arg) c.1979A>G (p.His660Arg) c.1976A>G (p.His659Arg) c.1913A>G (p.His638Arg) c.1907A>G (p.His636Arg) c.1877A>G (p.His626Arg) c.1715A>G (p.His572Arg) c.1688A>G (p.His563Arg) c.1505A>G (p.His502Arg) c.1478A>G (p.His493Arg) | |
7 | g.70777128A>T | CA367669770 | AUTS2 | c.26A>T (p.His9Leu) c.1958A>T (p.His653Leu) c.56A>T (p.His19Leu) c.293A>T (p.His98Leu) c.51A>T n.626A>T c.539A>T (p.His180Leu) c.584A>T (p.His195Leu) c.1955A>T (p.His652Leu) c.289A>T n.269A>T c.823A>T c.1886A>T (p.His629Leu) c.56A>T c.538A>T n.624A>T n.455A>T n.326A>T c.1214A>T (p.His405Leu) c.1142A>T (p.His381Leu) c.605A>T (p.His202Leu) c.1979A>T (p.His660Leu) c.1976A>T (p.His659Leu) c.1913A>T (p.His638Leu) c.1907A>T (p.His636Leu) c.1877A>T (p.His626Leu) c.1715A>T (p.His572Leu) c.1688A>T (p.His563Leu) c.1505A>T (p.His502Leu) c.1478A>T (p.His493Leu) | |
7 | g.70777129T>A | CA367669772 | AUTS2 | c.27T>A (p.His9Gln) c.1959T>A (p.His653Gln) c.57T>A (p.His19Gln) c.294T>A (p.His98Gln) c.52T>A n.627T>A c.540T>A (p.His180Gln) c.585T>A (p.His195Gln) c.1956T>A (p.His652Gln) c.290T>A n.270T>A c.824T>A c.1887T>A (p.His629Gln) c.57T>A c.539T>A n.625T>A n.456T>A n.327T>A c.1215T>A (p.His405Gln) c.1143T>A (p.His381Gln) c.606T>A (p.His202Gln) c.1980T>A (p.His660Gln) c.1977T>A (p.His659Gln) c.1914T>A (p.His638Gln) c.1908T>A (p.His636Gln) c.1878T>A (p.His626Gln) c.1716T>A (p.His572Gln) c.1689T>A (p.His563Gln) c.1506T>A (p.His502Gln) c.1479T>A (p.His493Gln) | |
7 | g.70777129T>C | CA4280860 | AUTS2 | c.27T>C (p.His9=) c.1959T>C (p.His653=) c.57T>C (p.His19=) c.294T>C (p.His98=) c.52T>C n.627T>C c.540T>C (p.His180=) c.585T>C (p.His195=) c.1956T>C (p.His652=) c.290T>C n.270T>C c.824T>C c.1887T>C (p.His629=) c.57T>C c.539T>C n.625T>C n.456T>C n.327T>C c.1215T>C (p.His405=) c.1143T>C (p.His381=) c.606T>C (p.His202=) c.1980T>C (p.His660=) c.1977T>C (p.His659=) c.1914T>C (p.His638=) c.1908T>C (p.His636=) c.1878T>C (p.His626=) c.1716T>C (p.His572=) c.1689T>C (p.His563=) c.1506T>C (p.His502=) c.1479T>C (p.His493=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.70777129T>G | CA367669773 | AUTS2 | c.27T>G (p.His9Gln) c.1959T>G (p.His653Gln) c.57T>G (p.His19Gln) c.294T>G (p.His98Gln) c.52T>G n.627T>G c.540T>G (p.His180Gln) c.585T>G (p.His195Gln) c.1956T>G (p.His652Gln) c.290T>G n.270T>G c.824T>G c.1887T>G (p.His629Gln) c.57T>G c.539T>G n.625T>G n.456T>G n.327T>G c.1215T>G (p.His405Gln) c.1143T>G (p.His381Gln) c.606T>G (p.His202Gln) c.1980T>G (p.His660Gln) c.1977T>G (p.His659Gln) c.1914T>G (p.His638Gln) c.1908T>G (p.His636Gln) c.1878T>G (p.His626Gln) c.1716T>G (p.His572Gln) c.1689T>G (p.His563Gln) c.1506T>G (p.His502Gln) c.1479T>G (p.His493Gln) | |
7 | g.70777129T= | CA1716145460 | AUTS2 | c.27T= (p.His9=) c.1959T= (p.His653=) c.57T= (p.His19=) c.294T= (p.His98=) c.52T= n.627T= c.540T= (p.His180=) c.585T= (p.His195=) c.1956T= (p.His652=) c.290T= n.270T= c.824T= c.1887T= (p.His629=) c.57T= c.539T= n.625T= n.456T= n.327T= c.1215T= (p.His405=) c.1143T= (p.His381=) c.606T= (p.His202=) c.1980T= (p.His660=) c.1977T= (p.His659=) c.1914T= (p.His638=) c.1908T= (p.His636=) c.1878T= (p.His626=) c.1716T= (p.His572=) c.1689T= (p.His563=) c.1506T= (p.His502=) c.1479T= (p.His493=) | |
7 | g.70777130G>A | CA367669774 | AUTS2 | c.28G>A (p.Val10Ile) c.1960G>A (p.Val654Ile) c.58G>A (p.Val20Ile) c.295G>A (p.Val99Ile) c.53G>A n.628G>A c.541G>A (p.Val181Ile) c.586G>A (p.Val196Ile) c.1957G>A (p.Val653Ile) c.291G>A n.271G>A c.825G>A c.1888G>A (p.Val630Ile) c.58G>A c.540G>A n.626G>A n.457G>A n.328G>A c.1216G>A (p.Val406Ile) c.1144G>A (p.Val382Ile) c.607G>A (p.Val203Ile) c.1981G>A (p.Val661Ile) c.1978G>A (p.Val660Ile) c.1915G>A (p.Val639Ile) c.1909G>A (p.Val637Ile) c.1879G>A (p.Val627Ile) c.1717G>A (p.Val573Ile) c.1690G>A (p.Val564Ile) c.1507G>A (p.Val503Ile) c.1480G>A (p.Val494Ile) | ClinVar |
7 | g.70777130G>C | CA367669775 | AUTS2 | c.28G>C (p.Val10Leu) c.1960G>C (p.Val654Leu) c.58G>C (p.Val20Leu) c.295G>C (p.Val99Leu) c.53G>C n.628G>C c.541G>C (p.Val181Leu) c.586G>C (p.Val196Leu) c.1957G>C (p.Val653Leu) c.291G>C n.271G>C c.825G>C c.1888G>C (p.Val630Leu) c.58G>C c.540G>C n.626G>C n.457G>C n.328G>C c.1216G>C (p.Val406Leu) c.1144G>C (p.Val382Leu) c.607G>C (p.Val203Leu) c.1981G>C (p.Val661Leu) c.1978G>C (p.Val660Leu) c.1915G>C (p.Val639Leu) c.1909G>C (p.Val637Leu) c.1879G>C (p.Val627Leu) c.1717G>C (p.Val573Leu) c.1690G>C (p.Val564Leu) c.1507G>C (p.Val503Leu) c.1480G>C (p.Val494Leu) | |
7 | g.70777130G>T | CA367669776 | AUTS2 | c.28G>T (p.Val10Phe) c.1960G>T (p.Val654Phe) c.58G>T (p.Val20Phe) c.295G>T (p.Val99Phe) c.53G>T n.628G>T c.541G>T (p.Val181Phe) c.586G>T (p.Val196Phe) c.1957G>T (p.Val653Phe) c.291G>T n.271G>T c.825G>T c.1888G>T (p.Val630Phe) c.58G>T c.540G>T n.626G>T n.457G>T n.328G>T c.1216G>T (p.Val406Phe) c.1144G>T (p.Val382Phe) c.607G>T (p.Val203Phe) c.1981G>T (p.Val661Phe) c.1978G>T (p.Val660Phe) c.1915G>T (p.Val639Phe) c.1909G>T (p.Val637Phe) c.1879G>T (p.Val627Phe) c.1717G>T (p.Val573Phe) c.1690G>T (p.Val564Phe) c.1507G>T (p.Val503Phe) c.1480G>T (p.Val494Phe) | |
7 | g.70777131T>A | CA367669777 | AUTS2 | c.29T>A (p.Val10Asp) c.1961T>A (p.Val654Asp) c.59T>A (p.Val20Asp) c.296T>A (p.Val99Asp) c.54T>A n.629T>A c.542T>A (p.Val181Asp) c.587T>A (p.Val196Asp) c.1958T>A (p.Val653Asp) c.292T>A n.272T>A c.826T>A c.1889T>A (p.Val630Asp) c.59T>A c.541T>A n.627T>A n.458T>A n.329T>A c.1217T>A (p.Val406Asp) c.1145T>A (p.Val382Asp) c.608T>A (p.Val203Asp) c.1982T>A (p.Val661Asp) c.1979T>A (p.Val660Asp) c.1916T>A (p.Val639Asp) c.1910T>A (p.Val637Asp) c.1880T>A (p.Val627Asp) c.1718T>A (p.Val573Asp) c.1691T>A (p.Val564Asp) c.1508T>A (p.Val503Asp) c.1481T>A (p.Val494Asp) | |
7 | g.70777131T>C | CA367669778 | AUTS2 | c.29T>C (p.Val10Ala) c.1961T>C (p.Val654Ala) c.59T>C (p.Val20Ala) c.296T>C (p.Val99Ala) c.54T>C n.629T>C c.542T>C (p.Val181Ala) c.587T>C (p.Val196Ala) c.1958T>C (p.Val653Ala) c.292T>C n.272T>C c.826T>C c.1889T>C (p.Val630Ala) c.59T>C c.541T>C n.627T>C n.458T>C n.329T>C c.1217T>C (p.Val406Ala) c.1145T>C (p.Val382Ala) c.608T>C (p.Val203Ala) c.1982T>C (p.Val661Ala) c.1979T>C (p.Val660Ala) c.1916T>C (p.Val639Ala) c.1910T>C (p.Val637Ala) c.1880T>C (p.Val627Ala) c.1718T>C (p.Val573Ala) c.1691T>C (p.Val564Ala) c.1508T>C (p.Val503Ala) c.1481T>C (p.Val494Ala) | |
7 | g.70777131T>G | CA367669779 | AUTS2 | c.29T>G (p.Val10Gly) c.1961T>G (p.Val654Gly) c.59T>G (p.Val20Gly) c.296T>G (p.Val99Gly) c.54T>G n.629T>G c.542T>G (p.Val181Gly) c.587T>G (p.Val196Gly) c.1958T>G (p.Val653Gly) c.292T>G n.272T>G c.826T>G c.1889T>G (p.Val630Gly) c.59T>G c.541T>G n.627T>G n.458T>G n.329T>G c.1217T>G (p.Val406Gly) c.1145T>G (p.Val382Gly) c.608T>G (p.Val203Gly) c.1982T>G (p.Val661Gly) c.1979T>G (p.Val660Gly) c.1916T>G (p.Val639Gly) c.1910T>G (p.Val637Gly) c.1880T>G (p.Val627Gly) c.1718T>G (p.Val573Gly) c.1691T>G (p.Val564Gly) c.1508T>G (p.Val503Gly) c.1481T>G (p.Val494Gly) | |
7 | g.70777132T>A | CA455803126 | AUTS2 | c.30T>A (p.Val10=) c.1962T>A (p.Val654=) c.60T>A (p.Val20=) c.297T>A (p.Val99=) c.55T>A n.630T>A c.543T>A (p.Val181=) c.588T>A (p.Val196=) c.1959T>A (p.Val653=) c.293T>A n.273T>A c.827T>A c.1890T>A (p.Val630=) c.60T>A c.542T>A n.628T>A n.459T>A n.330T>A c.1218T>A (p.Val406=) c.1146T>A (p.Val382=) c.609T>A (p.Val203=) c.1983T>A (p.Val661=) c.1980T>A (p.Val660=) c.1917T>A (p.Val639=) c.1911T>A (p.Val637=) c.1881T>A (p.Val627=) c.1719T>A (p.Val573=) c.1692T>A (p.Val564=) c.1509T>A (p.Val503=) c.1482T>A (p.Val494=) | |
7 | g.70777132T>C | CA455803127 | AUTS2 | c.30T>C (p.Val10=) c.1962T>C (p.Val654=) c.60T>C (p.Val20=) c.297T>C (p.Val99=) c.55T>C n.630T>C c.543T>C (p.Val181=) c.588T>C (p.Val196=) c.1959T>C (p.Val653=) c.293T>C n.273T>C c.827T>C c.1890T>C (p.Val630=) c.60T>C c.542T>C n.628T>C n.459T>C n.330T>C c.1218T>C (p.Val406=) c.1146T>C (p.Val382=) c.609T>C (p.Val203=) c.1983T>C (p.Val661=) c.1980T>C (p.Val660=) c.1917T>C (p.Val639=) c.1911T>C (p.Val637=) c.1881T>C (p.Val627=) c.1719T>C (p.Val573=) c.1692T>C (p.Val564=) c.1509T>C (p.Val503=) c.1482T>C (p.Val494=) | |
7 | g.70777132T>G | CA455803128 | AUTS2 | c.30T>G (p.Val10=) c.1962T>G (p.Val654=) c.60T>G (p.Val20=) c.297T>G (p.Val99=) c.55T>G n.630T>G c.543T>G (p.Val181=) c.588T>G (p.Val196=) c.1959T>G (p.Val653=) c.293T>G n.273T>G c.827T>G c.1890T>G (p.Val630=) c.60T>G c.542T>G n.628T>G n.459T>G n.330T>G c.1218T>G (p.Val406=) c.1146T>G (p.Val382=) c.609T>G (p.Val203=) c.1983T>G (p.Val661=) c.1980T>G (p.Val660=) c.1917T>G (p.Val639=) c.1911T>G (p.Val637=) c.1881T>G (p.Val627=) c.1719T>G (p.Val573=) c.1692T>G (p.Val564=) c.1509T>G (p.Val503=) c.1482T>G (p.Val494=) |