| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70777144G>A | CA10602965 | AUTS2 | c.42G>A (p.Trp14Ter) c.1974G>A (p.Trp658Ter) c.72G>A (p.Trp24Ter) c.309G>A (p.Trp103Ter) c.67G>A n.642G>A c.555G>A (p.Trp185Ter) c.600G>A (p.Trp200Ter) c.1971G>A (p.Trp657Ter) n.285G>A c.839G>A c.1902G>A (p.Trp634Ter) c.72G>A n.640G>A n.471G>A n.342G>A c.1230G>A (p.Trp410Ter) c.1158G>A (p.Trp386Ter) c.621G>A (p.Trp207Ter) c.1995G>A (p.Trp665Ter) c.1992G>A (p.Trp664Ter) c.1929G>A (p.Trp643Ter) c.1923G>A (p.Trp641Ter) c.1893G>A (p.Trp631Ter) c.1731G>A (p.Trp577Ter) c.1704G>A (p.Trp568Ter) c.1521G>A (p.Trp507Ter) c.1494G>A (p.Trp498Ter) | ClinVar dbSNP |
| 7 | g.70777144G>C | CA367669806 | AUTS2 | c.42G>C (p.Trp14Cys) c.1974G>C (p.Trp658Cys) c.72G>C (p.Trp24Cys) c.309G>C (p.Trp103Cys) c.67G>C n.642G>C c.555G>C (p.Trp185Cys) c.600G>C (p.Trp200Cys) c.1971G>C (p.Trp657Cys) n.285G>C c.839G>C c.1902G>C (p.Trp634Cys) c.72G>C n.640G>C n.471G>C n.342G>C c.1230G>C (p.Trp410Cys) c.1158G>C (p.Trp386Cys) c.621G>C (p.Trp207Cys) c.1995G>C (p.Trp665Cys) c.1992G>C (p.Trp664Cys) c.1929G>C (p.Trp643Cys) c.1923G>C (p.Trp641Cys) c.1893G>C (p.Trp631Cys) c.1731G>C (p.Trp577Cys) c.1704G>C (p.Trp568Cys) c.1521G>C (p.Trp507Cys) c.1494G>C (p.Trp498Cys) | |
| 7 | g.70777144G= | CA1716145491 | AUTS2 | c.42G= (p.Trp14=) c.1974G= (p.Trp658=) c.72G= (p.Trp24=) c.309G= (p.Trp103=) c.67G= n.642G= c.555G= (p.Trp185=) c.600G= (p.Trp200=) c.1971G= (p.Trp657=) n.285G= c.839G= c.1902G= (p.Trp634=) c.72G= n.640G= n.471G= n.342G= c.1230G= (p.Trp410=) c.1158G= (p.Trp386=) c.621G= (p.Trp207=) c.1995G= (p.Trp665=) c.1992G= (p.Trp664=) c.1929G= (p.Trp643=) c.1923G= (p.Trp641=) c.1893G= (p.Trp631=) c.1731G= (p.Trp577=) c.1704G= (p.Trp568=) c.1521G= (p.Trp507=) c.1494G= (p.Trp498=) | |
| 7 | g.70777144G>T | CA367669807 | AUTS2 | c.42G>T (p.Trp14Cys) c.1974G>T (p.Trp658Cys) c.72G>T (p.Trp24Cys) c.309G>T (p.Trp103Cys) c.67G>T n.642G>T c.555G>T (p.Trp185Cys) c.600G>T (p.Trp200Cys) c.1971G>T (p.Trp657Cys) n.285G>T c.839G>T c.1902G>T (p.Trp634Cys) c.72G>T n.640G>T n.471G>T n.342G>T c.1230G>T (p.Trp410Cys) c.1158G>T (p.Trp386Cys) c.621G>T (p.Trp207Cys) c.1995G>T (p.Trp665Cys) c.1992G>T (p.Trp664Cys) c.1929G>T (p.Trp643Cys) c.1923G>T (p.Trp641Cys) c.1893G>T (p.Trp631Cys) c.1731G>T (p.Trp577Cys) c.1704G>T (p.Trp568Cys) c.1521G>T (p.Trp507Cys) c.1494G>T (p.Trp498Cys) | |
| 7 | g.70777145C>A | CA367669810 | AUTS2 | c.43C>A (p.Gln15Lys) c.1975C>A (p.Gln659Lys) c.73C>A (p.Gln25Lys) c.310C>A (p.Gln104Lys) c.68C>A n.643C>A c.556C>A (p.Gln186Lys) c.601C>A (p.Gln201Lys) c.1972C>A (p.Gln658Lys) n.286C>A c.840C>A c.1903C>A (p.Gln635Lys) c.73C>A n.641C>A n.472C>A n.343C>A c.1231C>A (p.Gln411Lys) c.1159C>A (p.Gln387Lys) c.622C>A (p.Gln208Lys) c.1996C>A (p.Gln666Lys) c.1993C>A (p.Gln665Lys) c.1930C>A (p.Gln644Lys) c.1924C>A (p.Gln642Lys) c.1894C>A (p.Gln632Lys) c.1732C>A (p.Gln578Lys) c.1705C>A (p.Gln569Lys) c.1522C>A (p.Gln508Lys) c.1495C>A (p.Gln499Lys) | |
| 7 | g.70777145C>G | CA367669808 | AUTS2 | c.43C>G (p.Gln15Glu) c.1975C>G (p.Gln659Glu) c.73C>G (p.Gln25Glu) c.310C>G (p.Gln104Glu) c.68C>G n.643C>G c.556C>G (p.Gln186Glu) c.601C>G (p.Gln201Glu) c.1972C>G (p.Gln658Glu) n.286C>G c.840C>G c.1903C>G (p.Gln635Glu) c.73C>G n.641C>G n.472C>G n.343C>G c.1231C>G (p.Gln411Glu) c.1159C>G (p.Gln387Glu) c.622C>G (p.Gln208Glu) c.1996C>G (p.Gln666Glu) c.1993C>G (p.Gln665Glu) c.1930C>G (p.Gln644Glu) c.1924C>G (p.Gln642Glu) c.1894C>G (p.Gln632Glu) c.1732C>G (p.Gln578Glu) c.1705C>G (p.Gln569Glu) c.1522C>G (p.Gln508Glu) c.1495C>G (p.Gln499Glu) | |
| 7 | g.70777145C>T | CA367669809 | AUTS2 | c.43C>T (p.Gln15Ter) c.1975C>T (p.Gln659Ter) c.73C>T (p.Gln25Ter) c.310C>T (p.Gln104Ter) c.68C>T n.643C>T c.556C>T (p.Gln186Ter) c.601C>T (p.Gln201Ter) c.1972C>T (p.Gln658Ter) n.286C>T c.840C>T c.1903C>T (p.Gln635Ter) c.73C>T n.641C>T n.472C>T n.343C>T c.1231C>T (p.Gln411Ter) c.1159C>T (p.Gln387Ter) c.622C>T (p.Gln208Ter) c.1996C>T (p.Gln666Ter) c.1993C>T (p.Gln665Ter) c.1930C>T (p.Gln644Ter) c.1924C>T (p.Gln642Ter) c.1894C>T (p.Gln632Ter) c.1732C>T (p.Gln578Ter) c.1705C>T (p.Gln569Ter) c.1522C>T (p.Gln508Ter) c.1495C>T (p.Gln499Ter) | |
| 7 | g.70777146A= | CA1716145503 | AUTS2 | c.44A= (p.Gln15=) c.1976A= (p.Gln659=) c.74A= (p.Gln25=) c.311A= (p.Gln104=) c.69A= n.644A= c.557A= (p.Gln186=) c.602A= (p.Gln201=) c.1973A= (p.Gln658=) n.287A= c.841A= c.1904A= (p.Gln635=) c.74A= n.642A= n.473A= n.344A= c.1232A= (p.Gln411=) c.1160A= (p.Gln387=) c.623A= (p.Gln208=) c.1997A= (p.Gln666=) c.1994A= (p.Gln665=) c.1931A= (p.Gln644=) c.1925A= (p.Gln642=) c.1895A= (p.Gln632=) c.1733A= (p.Gln578=) c.1706A= (p.Gln569=) c.1523A= (p.Gln508=) c.1496A= (p.Gln499=) | |
| 7 | g.70777146A>C | CA367669811 | AUTS2 | c.44A>C (p.Gln15Pro) c.1976A>C (p.Gln659Pro) c.74A>C (p.Gln25Pro) c.311A>C (p.Gln104Pro) c.69A>C n.644A>C c.557A>C (p.Gln186Pro) c.602A>C (p.Gln201Pro) c.1973A>C (p.Gln658Pro) n.287A>C c.841A>C c.1904A>C (p.Gln635Pro) c.74A>C n.642A>C n.473A>C n.344A>C c.1232A>C (p.Gln411Pro) c.1160A>C (p.Gln387Pro) c.623A>C (p.Gln208Pro) c.1997A>C (p.Gln666Pro) c.1994A>C (p.Gln665Pro) c.1931A>C (p.Gln644Pro) c.1925A>C (p.Gln642Pro) c.1895A>C (p.Gln632Pro) c.1733A>C (p.Gln578Pro) c.1706A>C (p.Gln569Pro) c.1523A>C (p.Gln508Pro) c.1496A>C (p.Gln499Pro) | |
| 7 | g.70777146A>G | CA4280865 | AUTS2 | c.44A>G (p.Gln15Arg) c.1976A>G (p.Gln659Arg) c.74A>G (p.Gln25Arg) c.311A>G (p.Gln104Arg) c.69A>G n.644A>G c.557A>G (p.Gln186Arg) c.602A>G (p.Gln201Arg) c.1973A>G (p.Gln658Arg) n.287A>G c.841A>G c.1904A>G (p.Gln635Arg) c.74A>G n.642A>G n.473A>G n.344A>G c.1232A>G (p.Gln411Arg) c.1160A>G (p.Gln387Arg) c.623A>G (p.Gln208Arg) c.1997A>G (p.Gln666Arg) c.1994A>G (p.Gln665Arg) c.1931A>G (p.Gln644Arg) c.1925A>G (p.Gln642Arg) c.1895A>G (p.Gln632Arg) c.1733A>G (p.Gln578Arg) c.1706A>G (p.Gln569Arg) c.1523A>G (p.Gln508Arg) c.1496A>G (p.Gln499Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.70777146A>T | CA367669812 | AUTS2 | c.44A>T (p.Gln15Leu) c.1976A>T (p.Gln659Leu) c.74A>T (p.Gln25Leu) c.311A>T (p.Gln104Leu) c.69A>T n.644A>T c.557A>T (p.Gln186Leu) c.602A>T (p.Gln201Leu) c.1973A>T (p.Gln658Leu) n.287A>T c.841A>T c.1904A>T (p.Gln635Leu) c.74A>T n.642A>T n.473A>T n.344A>T c.1232A>T (p.Gln411Leu) c.1160A>T (p.Gln387Leu) c.623A>T (p.Gln208Leu) c.1997A>T (p.Gln666Leu) c.1994A>T (p.Gln665Leu) c.1931A>T (p.Gln644Leu) c.1925A>T (p.Gln642Leu) c.1895A>T (p.Gln632Leu) c.1733A>T (p.Gln578Leu) c.1706A>T (p.Gln569Leu) c.1523A>T (p.Gln508Leu) c.1496A>T (p.Gln499Leu) | |
| 7 | g.70777147G>A | CA455803135 | AUTS2 | c.45G>A (p.Gln15=) c.1977G>A (p.Gln659=) c.75G>A (p.Gln25=) c.312G>A (p.Gln104=) c.70G>A n.645G>A c.558G>A (p.Gln186=) c.603G>A (p.Gln201=) c.1974G>A (p.Gln658=) n.288G>A c.842G>A c.1905G>A (p.Gln635=) c.75G>A n.643G>A n.474G>A n.345G>A c.1233G>A (p.Gln411=) c.1161G>A (p.Gln387=) c.624G>A (p.Gln208=) c.1998G>A (p.Gln666=) c.1995G>A (p.Gln665=) c.1932G>A (p.Gln644=) c.1926G>A (p.Gln642=) c.1896G>A (p.Gln632=) c.1734G>A (p.Gln578=) c.1707G>A (p.Gln569=) c.1524G>A (p.Gln508=) c.1497G>A (p.Gln499=) | gnomAD v4 |
| 7 | g.70777147G>C | CA367669813 | AUTS2 | c.45G>C (p.Gln15His) c.1977G>C (p.Gln659His) c.75G>C (p.Gln25His) c.312G>C (p.Gln104His) c.70G>C n.645G>C c.558G>C (p.Gln186His) c.603G>C (p.Gln201His) c.1974G>C (p.Gln658His) n.288G>C c.842G>C c.1905G>C (p.Gln635His) c.75G>C n.643G>C n.474G>C n.345G>C c.1233G>C (p.Gln411His) c.1161G>C (p.Gln387His) c.624G>C (p.Gln208His) c.1998G>C (p.Gln666His) c.1995G>C (p.Gln665His) c.1932G>C (p.Gln644His) c.1926G>C (p.Gln642His) c.1896G>C (p.Gln632His) c.1734G>C (p.Gln578His) c.1707G>C (p.Gln569His) c.1524G>C (p.Gln508His) c.1497G>C (p.Gln499His) | |
| 7 | g.70777147G>T | CA367669814 | AUTS2 | c.45G>T (p.Gln15His) c.1977G>T (p.Gln659His) c.75G>T (p.Gln25His) c.312G>T (p.Gln104His) c.70G>T n.645G>T c.558G>T (p.Gln186His) c.603G>T (p.Gln201His) c.1974G>T (p.Gln658His) n.288G>T c.842G>T c.1905G>T (p.Gln635His) c.75G>T n.643G>T n.474G>T n.345G>T c.1233G>T (p.Gln411His) c.1161G>T (p.Gln387His) c.624G>T (p.Gln208His) c.1998G>T (p.Gln666His) c.1995G>T (p.Gln665His) c.1932G>T (p.Gln644His) c.1926G>T (p.Gln642His) c.1896G>T (p.Gln632His) c.1734G>T (p.Gln578His) c.1707G>T (p.Gln569His) c.1524G>T (p.Gln508His) c.1497G>T (p.Gln499His) | |
| 7 | g.70777148A>C | CA367669815 | AUTS2 | c.46A>C (p.Ile16Leu) c.1978A>C (p.Ile660Leu) c.76A>C (p.Ile26Leu) c.313A>C (p.Ile105Leu) c.71A>C n.646A>C c.559A>C (p.Ile187Leu) c.604A>C (p.Ile202Leu) c.1975A>C (p.Ile659Leu) n.289A>C c.843A>C c.1906A>C (p.Ile636Leu) c.76A>C n.644A>C n.475A>C n.346A>C c.1234A>C (p.Ile412Leu) c.1162A>C (p.Ile388Leu) c.625A>C (p.Ile209Leu) c.1999A>C (p.Ile667Leu) c.1996A>C (p.Ile666Leu) c.1933A>C (p.Ile645Leu) c.1927A>C (p.Ile643Leu) c.1897A>C (p.Ile633Leu) c.1735A>C (p.Ile579Leu) c.1708A>C (p.Ile570Leu) c.1525A>C (p.Ile509Leu) c.1498A>C (p.Ile500Leu) | |
| 7 | g.70777148A>G | CA367669816 | AUTS2 | c.46A>G (p.Ile16Val) c.1978A>G (p.Ile660Val) c.76A>G (p.Ile26Val) c.313A>G (p.Ile105Val) c.71A>G n.646A>G c.559A>G (p.Ile187Val) c.604A>G (p.Ile202Val) c.1975A>G (p.Ile659Val) n.289A>G c.843A>G c.1906A>G (p.Ile636Val) c.76A>G n.644A>G n.475A>G n.346A>G c.1234A>G (p.Ile412Val) c.1162A>G (p.Ile388Val) c.625A>G (p.Ile209Val) c.1999A>G (p.Ile667Val) c.1996A>G (p.Ile666Val) c.1933A>G (p.Ile645Val) c.1927A>G (p.Ile643Val) c.1897A>G (p.Ile633Val) c.1735A>G (p.Ile579Val) c.1708A>G (p.Ile570Val) c.1525A>G (p.Ile509Val) c.1498A>G (p.Ile500Val) | |
| 7 | g.70777148A>T | CA367669817 | AUTS2 | c.46A>T (p.Ile16Phe) c.1978A>T (p.Ile660Phe) c.76A>T (p.Ile26Phe) c.313A>T (p.Ile105Phe) c.71A>T n.646A>T c.559A>T (p.Ile187Phe) c.604A>T (p.Ile202Phe) c.1975A>T (p.Ile659Phe) n.289A>T c.843A>T c.1906A>T (p.Ile636Phe) c.76A>T n.644A>T n.475A>T n.346A>T c.1234A>T (p.Ile412Phe) c.1162A>T (p.Ile388Phe) c.625A>T (p.Ile209Phe) c.1999A>T (p.Ile667Phe) c.1996A>T (p.Ile666Phe) c.1933A>T (p.Ile645Phe) c.1927A>T (p.Ile643Phe) c.1897A>T (p.Ile633Phe) c.1735A>T (p.Ile579Phe) c.1708A>T (p.Ile570Phe) c.1525A>T (p.Ile509Phe) c.1498A>T (p.Ile500Phe) | |
| 7 | g.70777149T>A | CA367669818 | AUTS2 | c.47T>A (p.Ile16Asn) c.1979T>A (p.Ile660Asn) c.77T>A (p.Ile26Asn) c.314T>A (p.Ile105Asn) c.72T>A n.647T>A c.560T>A (p.Ile187Asn) c.605T>A (p.Ile202Asn) c.1976T>A (p.Ile659Asn) n.290T>A c.844T>A c.1907T>A (p.Ile636Asn) c.77T>A n.645T>A n.476T>A n.347T>A c.1235T>A (p.Ile412Asn) c.1163T>A (p.Ile388Asn) c.626T>A (p.Ile209Asn) c.2000T>A (p.Ile667Asn) c.1997T>A (p.Ile666Asn) c.1934T>A (p.Ile645Asn) c.1928T>A (p.Ile643Asn) c.1898T>A (p.Ile633Asn) c.1736T>A (p.Ile579Asn) c.1709T>A (p.Ile570Asn) c.1526T>A (p.Ile509Asn) c.1499T>A (p.Ile500Asn) | |
| 7 | g.70777149T>C | CA367669819 | AUTS2 | c.47T>C (p.Ile16Thr) c.1979T>C (p.Ile660Thr) c.77T>C (p.Ile26Thr) c.314T>C (p.Ile105Thr) c.72T>C n.647T>C c.560T>C (p.Ile187Thr) c.605T>C (p.Ile202Thr) c.1976T>C (p.Ile659Thr) n.290T>C c.844T>C c.1907T>C (p.Ile636Thr) c.77T>C n.645T>C n.476T>C n.347T>C c.1235T>C (p.Ile412Thr) c.1163T>C (p.Ile388Thr) c.626T>C (p.Ile209Thr) c.2000T>C (p.Ile667Thr) c.1997T>C (p.Ile666Thr) c.1934T>C (p.Ile645Thr) c.1928T>C (p.Ile643Thr) c.1898T>C (p.Ile633Thr) c.1736T>C (p.Ile579Thr) c.1709T>C (p.Ile570Thr) c.1526T>C (p.Ile509Thr) c.1499T>C (p.Ile500Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.70777149T>G | CA367669820 | AUTS2 | c.47T>G (p.Ile16Ser) c.1979T>G (p.Ile660Ser) c.77T>G (p.Ile26Ser) c.314T>G (p.Ile105Ser) c.72T>G n.647T>G c.560T>G (p.Ile187Ser) c.605T>G (p.Ile202Ser) c.1976T>G (p.Ile659Ser) n.290T>G c.844T>G c.1907T>G (p.Ile636Ser) c.77T>G n.645T>G n.476T>G n.347T>G c.1235T>G (p.Ile412Ser) c.1163T>G (p.Ile388Ser) c.626T>G (p.Ile209Ser) c.2000T>G (p.Ile667Ser) c.1997T>G (p.Ile666Ser) c.1934T>G (p.Ile645Ser) c.1928T>G (p.Ile643Ser) c.1898T>G (p.Ile633Ser) c.1736T>G (p.Ile579Ser) c.1709T>G (p.Ile570Ser) c.1526T>G (p.Ile509Ser) c.1499T>G (p.Ile500Ser) | |
| 7 | g.70777149T= | CA1716145517 | AUTS2 | c.47T= (p.Ile16=) c.1979T= (p.Ile660=) c.77T= (p.Ile26=) c.314T= (p.Ile105=) c.72T= n.647T= c.560T= (p.Ile187=) c.605T= (p.Ile202=) c.1976T= (p.Ile659=) n.290T= c.844T= c.1907T= (p.Ile636=) c.77T= n.645T= n.476T= n.347T= c.1235T= (p.Ile412=) c.1163T= (p.Ile388=) c.626T= (p.Ile209=) c.2000T= (p.Ile667=) c.1997T= (p.Ile666=) c.1934T= (p.Ile645=) c.1928T= (p.Ile643=) c.1898T= (p.Ile633=) c.1736T= (p.Ile579=) c.1709T= (p.Ile570=) c.1526T= (p.Ile509=) c.1499T= (p.Ile500=) | |
| 7 | g.70777150T>A | CA455803136 | AUTS2 | c.48T>A (p.Ile16=) c.1980T>A (p.Ile660=) c.78T>A (p.Ile26=) c.315T>A (p.Ile105=) c.73T>A n.648T>A c.561T>A (p.Ile187=) c.606T>A (p.Ile202=) c.1977T>A (p.Ile659=) n.291T>A c.845T>A c.1908T>A (p.Ile636=) c.78T>A n.646T>A n.477T>A n.348T>A c.1236T>A (p.Ile412=) c.1164T>A (p.Ile388=) c.627T>A (p.Ile209=) c.2001T>A (p.Ile667=) c.1998T>A (p.Ile666=) c.1935T>A (p.Ile645=) c.1929T>A (p.Ile643=) c.1899T>A (p.Ile633=) c.1737T>A (p.Ile579=) c.1710T>A (p.Ile570=) c.1527T>A (p.Ile509=) c.1500T>A (p.Ile500=) | |
| 7 | g.70777150T>C | CA455803137 | AUTS2 | c.48T>C (p.Ile16=) c.1980T>C (p.Ile660=) c.78T>C (p.Ile26=) c.315T>C (p.Ile105=) c.73T>C n.648T>C c.561T>C (p.Ile187=) c.606T>C (p.Ile202=) c.1977T>C (p.Ile659=) n.291T>C c.845T>C c.1908T>C (p.Ile636=) c.78T>C n.646T>C n.477T>C n.348T>C c.1236T>C (p.Ile412=) c.1164T>C (p.Ile388=) c.627T>C (p.Ile209=) c.2001T>C (p.Ile667=) c.1998T>C (p.Ile666=) c.1935T>C (p.Ile645=) c.1929T>C (p.Ile643=) c.1899T>C (p.Ile633=) c.1737T>C (p.Ile579=) c.1710T>C (p.Ile570=) c.1527T>C (p.Ile509=) c.1500T>C (p.Ile500=) | |
| 7 | g.70777150T>G | CA367669821 | AUTS2 | c.48T>G (p.Ile16Met) c.1980T>G (p.Ile660Met) c.78T>G (p.Ile26Met) c.315T>G (p.Ile105Met) c.73T>G n.648T>G c.561T>G (p.Ile187Met) c.606T>G (p.Ile202Met) c.1977T>G (p.Ile659Met) n.291T>G c.845T>G c.1908T>G (p.Ile636Met) c.78T>G n.646T>G n.477T>G n.348T>G c.1236T>G (p.Ile412Met) c.1164T>G (p.Ile388Met) c.627T>G (p.Ile209Met) c.2001T>G (p.Ile667Met) c.1998T>G (p.Ile666Met) c.1935T>G (p.Ile645Met) c.1929T>G (p.Ile643Met) c.1899T>G (p.Ile633Met) c.1737T>G (p.Ile579Met) c.1710T>G (p.Ile570Met) c.1527T>G (p.Ile509Met) c.1500T>G (p.Ile500Met) | |
| 7 | g.70777151T>A | CA367669823 | AUTS2 | c.49T>A (p.Tyr17Asn) c.1981T>A (p.Tyr661Asn) c.79T>A (p.Tyr27Asn) c.316T>A (p.Tyr106Asn) c.74T>A n.649T>A c.562T>A (p.Tyr188Asn) c.607T>A (p.Tyr203Asn) c.1978T>A (p.Tyr660Asn) n.292T>A c.846T>A c.1909T>A (p.Tyr637Asn) c.79T>A n.647T>A n.478T>A n.349T>A c.1237T>A (p.Tyr413Asn) c.1165T>A (p.Tyr389Asn) c.628T>A (p.Tyr210Asn) c.2002T>A (p.Tyr668Asn) c.1999T>A (p.Tyr667Asn) c.1936T>A (p.Tyr646Asn) c.1930T>A (p.Tyr644Asn) c.1900T>A (p.Tyr634Asn) c.1738T>A (p.Tyr580Asn) c.1711T>A (p.Tyr571Asn) c.1528T>A (p.Tyr510Asn) c.1501T>A (p.Tyr501Asn) | |
| 7 | g.70777151T>C | CA367669824 | AUTS2 | c.49T>C (p.Tyr17His) c.1981T>C (p.Tyr661His) c.79T>C (p.Tyr27His) c.316T>C (p.Tyr106His) c.74T>C n.649T>C c.562T>C (p.Tyr188His) c.607T>C (p.Tyr203His) c.1978T>C (p.Tyr660His) n.292T>C c.846T>C c.1909T>C (p.Tyr637His) c.79T>C n.647T>C n.478T>C n.349T>C c.1237T>C (p.Tyr413His) c.1165T>C (p.Tyr389His) c.628T>C (p.Tyr210His) c.2002T>C (p.Tyr668His) c.1999T>C (p.Tyr667His) c.1936T>C (p.Tyr646His) c.1930T>C (p.Tyr644His) c.1900T>C (p.Tyr634His) c.1738T>C (p.Tyr580His) c.1711T>C (p.Tyr571His) c.1528T>C (p.Tyr510His) c.1501T>C (p.Tyr501His) | |
| 7 | g.70777151T>G | CA367669822 | AUTS2 | c.49T>G (p.Tyr17Asp) c.1981T>G (p.Tyr661Asp) c.79T>G (p.Tyr27Asp) c.316T>G (p.Tyr106Asp) c.74T>G n.649T>G c.562T>G (p.Tyr188Asp) c.607T>G (p.Tyr203Asp) c.1978T>G (p.Tyr660Asp) n.292T>G c.846T>G c.1909T>G (p.Tyr637Asp) c.79T>G n.647T>G n.478T>G n.349T>G c.1237T>G (p.Tyr413Asp) c.1165T>G (p.Tyr389Asp) c.628T>G (p.Tyr210Asp) c.2002T>G (p.Tyr668Asp) c.1999T>G (p.Tyr667Asp) c.1936T>G (p.Tyr646Asp) c.1930T>G (p.Tyr644Asp) c.1900T>G (p.Tyr634Asp) c.1738T>G (p.Tyr580Asp) c.1711T>G (p.Tyr571Asp) c.1528T>G (p.Tyr510Asp) c.1501T>G (p.Tyr501Asp) | |
| 7 | g.70777152A>C | CA367669826 | AUTS2 | c.50A>C (p.Tyr17Ser) c.1982A>C (p.Tyr661Ser) c.80A>C (p.Tyr27Ser) c.317A>C (p.Tyr106Ser) c.75A>C n.650A>C c.563A>C (p.Tyr188Ser) c.608A>C (p.Tyr203Ser) c.1979A>C (p.Tyr660Ser) n.293A>C c.847A>C c.1910A>C (p.Tyr637Ser) c.80A>C n.648A>C n.479A>C n.350A>C c.1238A>C (p.Tyr413Ser) c.1166A>C (p.Tyr389Ser) c.629A>C (p.Tyr210Ser) c.2003A>C (p.Tyr668Ser) c.2000A>C (p.Tyr667Ser) c.1937A>C (p.Tyr646Ser) c.1931A>C (p.Tyr644Ser) c.1901A>C (p.Tyr634Ser) c.1739A>C (p.Tyr580Ser) c.1712A>C (p.Tyr571Ser) c.1529A>C (p.Tyr510Ser) c.1502A>C (p.Tyr501Ser) | |
| 7 | g.70777152A>G | CA367669825 | AUTS2 | c.50A>G (p.Tyr17Cys) c.1982A>G (p.Tyr661Cys) c.80A>G (p.Tyr27Cys) c.317A>G (p.Tyr106Cys) c.75A>G n.650A>G c.563A>G (p.Tyr188Cys) c.608A>G (p.Tyr203Cys) c.1979A>G (p.Tyr660Cys) n.293A>G c.847A>G c.1910A>G (p.Tyr637Cys) c.80A>G n.648A>G n.479A>G n.350A>G c.1238A>G (p.Tyr413Cys) c.1166A>G (p.Tyr389Cys) c.629A>G (p.Tyr210Cys) c.2003A>G (p.Tyr668Cys) c.2000A>G (p.Tyr667Cys) c.1937A>G (p.Tyr646Cys) c.1931A>G (p.Tyr644Cys) c.1901A>G (p.Tyr634Cys) c.1739A>G (p.Tyr580Cys) c.1712A>G (p.Tyr571Cys) c.1529A>G (p.Tyr510Cys) c.1502A>G (p.Tyr501Cys) | gnomAD v4 |
| 7 | g.70777152A>T | CA367669827 | AUTS2 | c.50A>T (p.Tyr17Phe) c.1982A>T (p.Tyr661Phe) c.80A>T (p.Tyr27Phe) c.317A>T (p.Tyr106Phe) c.75A>T n.650A>T c.563A>T (p.Tyr188Phe) c.608A>T (p.Tyr203Phe) c.1979A>T (p.Tyr660Phe) n.293A>T c.847A>T c.1910A>T (p.Tyr637Phe) c.80A>T n.648A>T n.479A>T n.350A>T c.1238A>T (p.Tyr413Phe) c.1166A>T (p.Tyr389Phe) c.629A>T (p.Tyr210Phe) c.2003A>T (p.Tyr668Phe) c.2000A>T (p.Tyr667Phe) c.1937A>T (p.Tyr646Phe) c.1931A>T (p.Tyr644Phe) c.1901A>T (p.Tyr634Phe) c.1739A>T (p.Tyr580Phe) c.1712A>T (p.Tyr571Phe) c.1529A>T (p.Tyr510Phe) c.1502A>T (p.Tyr501Phe) | |
| 7 | g.70777159_70777161del | CA2580617853 | AUTS2 | c.57_59del (p.His19del) c.1989_1991del (p.His663del) c.87_89del (p.His29del) c.324_326del (p.His108del) c.82_84del n.657_659del c.570_572del (p.His190del) c.615_617del (p.His205del) c.1986_1988del (p.His662del) n.300_302del c.854_856del c.1917_1919del (p.His639del) c.87_89del n.655_657del n.486_488del n.357_359del c.1245_1247del (p.His415del) c.1173_1175del (p.His391del) c.636_638del (p.His212del) c.2010_2012del (p.His670del) c.2007_2009del (p.His669del) c.1944_1946del (p.His648del) c.1938_1940del (p.His646del) c.1908_1910del (p.His636del) c.1746_1748del (p.His582del) c.1719_1721del (p.His573del) c.1536_1538del (p.His512del) c.1509_1511del (p.His503del) | ClinVar |
| 7 | g.70777153C>A | CA367669828 | AUTS2 | c.51C>A (p.Tyr17Ter) c.1983C>A (p.Tyr661Ter) c.81C>A (p.Tyr27Ter) c.318C>A (p.Tyr106Ter) c.76C>A n.651C>A c.564C>A (p.Tyr188Ter) c.609C>A (p.Tyr203Ter) c.1980C>A (p.Tyr660Ter) n.294C>A c.848C>A c.1911C>A (p.Tyr637Ter) c.81C>A n.649C>A n.480C>A n.351C>A c.1239C>A (p.Tyr413Ter) c.1167C>A (p.Tyr389Ter) c.630C>A (p.Tyr210Ter) c.2004C>A (p.Tyr668Ter) c.2001C>A (p.Tyr667Ter) c.1938C>A (p.Tyr646Ter) c.1932C>A (p.Tyr644Ter) c.1902C>A (p.Tyr634Ter) c.1740C>A (p.Tyr580Ter) c.1713C>A (p.Tyr571Ter) c.1530C>A (p.Tyr510Ter) c.1503C>A (p.Tyr501Ter) | |
| 7 | g.70777153C>G | CA367669829 | AUTS2 | c.51C>G (p.Tyr17Ter) c.1983C>G (p.Tyr661Ter) c.81C>G (p.Tyr27Ter) c.318C>G (p.Tyr106Ter) c.76C>G n.651C>G c.564C>G (p.Tyr188Ter) c.609C>G (p.Tyr203Ter) c.1980C>G (p.Tyr660Ter) n.294C>G c.848C>G c.1911C>G (p.Tyr637Ter) c.81C>G n.649C>G n.480C>G n.351C>G c.1239C>G (p.Tyr413Ter) c.1167C>G (p.Tyr389Ter) c.630C>G (p.Tyr210Ter) c.2004C>G (p.Tyr668Ter) c.2001C>G (p.Tyr667Ter) c.1938C>G (p.Tyr646Ter) c.1932C>G (p.Tyr644Ter) c.1902C>G (p.Tyr634Ter) c.1740C>G (p.Tyr580Ter) c.1713C>G (p.Tyr571Ter) c.1530C>G (p.Tyr510Ter) c.1503C>G (p.Tyr501Ter) | |
| 7 | g.70777153C>T | CA455803138 | AUTS2 | c.51C>T (p.Tyr17=) c.1983C>T (p.Tyr661=) c.81C>T (p.Tyr27=) c.318C>T (p.Tyr106=) c.76C>T n.651C>T c.564C>T (p.Tyr188=) c.609C>T (p.Tyr203=) c.1980C>T (p.Tyr660=) n.294C>T c.848C>T c.1911C>T (p.Tyr637=) c.81C>T n.649C>T n.480C>T n.351C>T c.1239C>T (p.Tyr413=) c.1167C>T (p.Tyr389=) c.630C>T (p.Tyr210=) c.2004C>T (p.Tyr668=) c.2001C>T (p.Tyr667=) c.1938C>T (p.Tyr646=) c.1932C>T (p.Tyr644=) c.1902C>T (p.Tyr634=) c.1740C>T (p.Tyr580=) c.1713C>T (p.Tyr571=) c.1530C>T (p.Tyr510=) c.1503C>T (p.Tyr501=) | |
| 7 | g.70777154C>A | CA367669830 | AUTS2 | c.52C>A (p.His18Asn) c.1984C>A (p.His662Asn) c.82C>A (p.His28Asn) c.319C>A (p.His107Asn) c.77C>A n.652C>A c.565C>A (p.His189Asn) c.610C>A (p.His204Asn) c.1981C>A (p.His661Asn) n.295C>A c.849C>A c.1912C>A (p.His638Asn) c.82C>A n.650C>A n.481C>A n.352C>A c.1240C>A (p.His414Asn) c.1168C>A (p.His390Asn) c.631C>A (p.His211Asn) c.2005C>A (p.His669Asn) c.2002C>A (p.His668Asn) c.1939C>A (p.His647Asn) c.1933C>A (p.His645Asn) c.1903C>A (p.His635Asn) c.1741C>A (p.His581Asn) c.1714C>A (p.His572Asn) c.1531C>A (p.His511Asn) c.1504C>A (p.His502Asn) | |
| 7 | g.70777154C>G | CA367669831 | AUTS2 | c.52C>G (p.His18Asp) c.1984C>G (p.His662Asp) c.82C>G (p.His28Asp) c.319C>G (p.His107Asp) c.77C>G n.652C>G c.565C>G (p.His189Asp) c.610C>G (p.His204Asp) c.1981C>G (p.His661Asp) n.295C>G c.849C>G c.1912C>G (p.His638Asp) c.82C>G n.650C>G n.481C>G n.352C>G c.1240C>G (p.His414Asp) c.1168C>G (p.His390Asp) c.631C>G (p.His211Asp) c.2005C>G (p.His669Asp) c.2002C>G (p.His668Asp) c.1939C>G (p.His647Asp) c.1933C>G (p.His645Asp) c.1903C>G (p.His635Asp) c.1741C>G (p.His581Asp) c.1714C>G (p.His572Asp) c.1531C>G (p.His511Asp) c.1504C>G (p.His502Asp) | |
| 7 | g.70777154C>T | CA367669832 | AUTS2 | c.52C>T (p.His18Tyr) c.1984C>T (p.His662Tyr) c.82C>T (p.His28Tyr) c.319C>T (p.His107Tyr) c.77C>T n.652C>T c.565C>T (p.His189Tyr) c.610C>T (p.His204Tyr) c.1981C>T (p.His661Tyr) n.295C>T c.849C>T c.1912C>T (p.His638Tyr) c.82C>T n.650C>T n.481C>T n.352C>T c.1240C>T (p.His414Tyr) c.1168C>T (p.His390Tyr) c.631C>T (p.His211Tyr) c.2005C>T (p.His669Tyr) c.2002C>T (p.His668Tyr) c.1939C>T (p.His647Tyr) c.1933C>T (p.His645Tyr) c.1903C>T (p.His635Tyr) c.1741C>T (p.His581Tyr) c.1714C>T (p.His572Tyr) c.1531C>T (p.His511Tyr) c.1504C>T (p.His502Tyr) | |
| 7 | g.70777155A>C | CA367669833 | AUTS2 | c.53A>C (p.His18Pro) c.1985A>C (p.His662Pro) c.83A>C (p.His28Pro) c.320A>C (p.His107Pro) c.78A>C n.653A>C c.566A>C (p.His189Pro) c.611A>C (p.His204Pro) c.1982A>C (p.His661Pro) n.296A>C c.850A>C c.1913A>C (p.His638Pro) c.83A>C n.651A>C n.482A>C n.353A>C c.1241A>C (p.His414Pro) c.1169A>C (p.His390Pro) c.632A>C (p.His211Pro) c.2006A>C (p.His669Pro) c.2003A>C (p.His668Pro) c.1940A>C (p.His647Pro) c.1934A>C (p.His645Pro) c.1904A>C (p.His635Pro) c.1742A>C (p.His581Pro) c.1715A>C (p.His572Pro) c.1532A>C (p.His511Pro) c.1505A>C (p.His502Pro) | |
| 7 | g.70777155A>G | CA367669834 | AUTS2 | c.53A>G (p.His18Arg) c.1985A>G (p.His662Arg) c.83A>G (p.His28Arg) c.320A>G (p.His107Arg) c.78A>G n.653A>G c.566A>G (p.His189Arg) c.611A>G (p.His204Arg) c.1982A>G (p.His661Arg) n.296A>G c.850A>G c.1913A>G (p.His638Arg) c.83A>G n.651A>G n.482A>G n.353A>G c.1241A>G (p.His414Arg) c.1169A>G (p.His390Arg) c.632A>G (p.His211Arg) c.2006A>G (p.His669Arg) c.2003A>G (p.His668Arg) c.1940A>G (p.His647Arg) c.1934A>G (p.His645Arg) c.1904A>G (p.His635Arg) c.1742A>G (p.His581Arg) c.1715A>G (p.His572Arg) c.1532A>G (p.His511Arg) c.1505A>G (p.His502Arg) | |
| 7 | g.70777155A>T | CA367669835 | AUTS2 | c.53A>T (p.His18Leu) c.1985A>T (p.His662Leu) c.83A>T (p.His28Leu) c.320A>T (p.His107Leu) c.78A>T n.653A>T c.566A>T (p.His189Leu) c.611A>T (p.His204Leu) c.1982A>T (p.His661Leu) n.296A>T c.850A>T c.1913A>T (p.His638Leu) c.83A>T n.651A>T n.482A>T n.353A>T c.1241A>T (p.His414Leu) c.1169A>T (p.His390Leu) c.632A>T (p.His211Leu) c.2006A>T (p.His669Leu) c.2003A>T (p.His668Leu) c.1940A>T (p.His647Leu) c.1934A>T (p.His645Leu) c.1904A>T (p.His635Leu) c.1742A>T (p.His581Leu) c.1715A>T (p.His572Leu) c.1532A>T (p.His511Leu) c.1505A>T (p.His502Leu) | |
| 7 | g.70777156C>A | CA367669836 | AUTS2 | c.54C>A (p.His18Gln) c.1986C>A (p.His662Gln) c.84C>A (p.His28Gln) c.321C>A (p.His107Gln) c.79C>A n.654C>A c.567C>A (p.His189Gln) c.612C>A (p.His204Gln) c.1983C>A (p.His661Gln) n.297C>A c.851C>A c.1914C>A (p.His638Gln) c.84C>A n.652C>A n.483C>A n.354C>A c.1242C>A (p.His414Gln) c.1170C>A (p.His390Gln) c.633C>A (p.His211Gln) c.2007C>A (p.His669Gln) c.2004C>A (p.His668Gln) c.1941C>A (p.His647Gln) c.1935C>A (p.His645Gln) c.1905C>A (p.His635Gln) c.1743C>A (p.His581Gln) c.1716C>A (p.His572Gln) c.1533C>A (p.His511Gln) c.1506C>A (p.His502Gln) | |
| 7 | g.70777156C>G | CA367669837 | AUTS2 | c.54C>G (p.His18Gln) c.1986C>G (p.His662Gln) c.84C>G (p.His28Gln) c.321C>G (p.His107Gln) c.79C>G n.654C>G c.567C>G (p.His189Gln) c.612C>G (p.His204Gln) c.1983C>G (p.His661Gln) n.297C>G c.851C>G c.1914C>G (p.His638Gln) c.84C>G n.652C>G n.483C>G n.354C>G c.1242C>G (p.His414Gln) c.1170C>G (p.His390Gln) c.633C>G (p.His211Gln) c.2007C>G (p.His669Gln) c.2004C>G (p.His668Gln) c.1941C>G (p.His647Gln) c.1935C>G (p.His645Gln) c.1905C>G (p.His635Gln) c.1743C>G (p.His581Gln) c.1716C>G (p.His572Gln) c.1533C>G (p.His511Gln) c.1506C>G (p.His502Gln) | |
| 7 | g.70777156C>T | CA455803140 | AUTS2 | c.54C>T (p.His18=) c.1986C>T (p.His662=) c.84C>T (p.His28=) c.321C>T (p.His107=) c.79C>T n.654C>T c.567C>T (p.His189=) c.612C>T (p.His204=) c.1983C>T (p.His661=) n.297C>T c.851C>T c.1914C>T (p.His638=) c.84C>T n.652C>T n.483C>T n.354C>T c.1242C>T (p.His414=) c.1170C>T (p.His390=) c.633C>T (p.His211=) c.2007C>T (p.His669=) c.2004C>T (p.His668=) c.1941C>T (p.His647=) c.1935C>T (p.His645=) c.1905C>T (p.His635=) c.1743C>T (p.His581=) c.1716C>T (p.His572=) c.1533C>T (p.His511=) c.1506C>T (p.His502=) | |
| 7 | g.70777157C>A | CA367669838 | AUTS2 | c.55C>A (p.His19Asn) c.1987C>A (p.His663Asn) c.85C>A (p.His29Asn) c.322C>A (p.His108Asn) c.80C>A n.655C>A c.568C>A (p.His190Asn) c.613C>A (p.His205Asn) c.1984C>A (p.His662Asn) n.298C>A c.852C>A c.1915C>A (p.His639Asn) c.85C>A n.653C>A n.484C>A n.355C>A c.1243C>A (p.His415Asn) c.1171C>A (p.His391Asn) c.634C>A (p.His212Asn) c.2008C>A (p.His670Asn) c.2005C>A (p.His669Asn) c.1942C>A (p.His648Asn) c.1936C>A (p.His646Asn) c.1906C>A (p.His636Asn) c.1744C>A (p.His582Asn) c.1717C>A (p.His573Asn) c.1534C>A (p.His512Asn) c.1507C>A (p.His503Asn) | |
| 7 | g.70777157C>G | CA367669839 | AUTS2 | c.55C>G (p.His19Asp) c.1987C>G (p.His663Asp) c.85C>G (p.His29Asp) c.322C>G (p.His108Asp) c.80C>G n.655C>G c.568C>G (p.His190Asp) c.613C>G (p.His205Asp) c.1984C>G (p.His662Asp) n.298C>G c.852C>G c.1915C>G (p.His639Asp) c.85C>G n.653C>G n.484C>G n.355C>G c.1243C>G (p.His415Asp) c.1171C>G (p.His391Asp) c.634C>G (p.His212Asp) c.2008C>G (p.His670Asp) c.2005C>G (p.His669Asp) c.1942C>G (p.His648Asp) c.1936C>G (p.His646Asp) c.1906C>G (p.His636Asp) c.1744C>G (p.His582Asp) c.1717C>G (p.His573Asp) c.1534C>G (p.His512Asp) c.1507C>G (p.His503Asp) | |
| 7 | g.70777157C>T | CA367669840 | AUTS2 | c.55C>T (p.His19Tyr) c.1987C>T (p.His663Tyr) c.85C>T (p.His29Tyr) c.322C>T (p.His108Tyr) c.80C>T n.655C>T c.568C>T (p.His190Tyr) c.613C>T (p.His205Tyr) c.1984C>T (p.His662Tyr) n.298C>T c.852C>T c.1915C>T (p.His639Tyr) c.85C>T n.653C>T n.484C>T n.355C>T c.1243C>T (p.His415Tyr) c.1171C>T (p.His391Tyr) c.634C>T (p.His212Tyr) c.2008C>T (p.His670Tyr) c.2005C>T (p.His669Tyr) c.1942C>T (p.His648Tyr) c.1936C>T (p.His646Tyr) c.1906C>T (p.His636Tyr) c.1744C>T (p.His582Tyr) c.1717C>T (p.His573Tyr) c.1534C>T (p.His512Tyr) c.1507C>T (p.His503Tyr) | gnomAD v4 |
| 7 | g.70777158A>C | CA367669841 | AUTS2 | c.56A>C (p.His19Pro) c.1988A>C (p.His663Pro) c.86A>C (p.His29Pro) c.323A>C (p.His108Pro) c.81A>C n.656A>C c.569A>C (p.His190Pro) c.614A>C (p.His205Pro) c.1985A>C (p.His662Pro) n.299A>C c.853A>C c.1916A>C (p.His639Pro) c.86A>C n.654A>C n.485A>C n.356A>C c.1244A>C (p.His415Pro) c.1172A>C (p.His391Pro) c.635A>C (p.His212Pro) c.2009A>C (p.His670Pro) c.2006A>C (p.His669Pro) c.1943A>C (p.His648Pro) c.1937A>C (p.His646Pro) c.1907A>C (p.His636Pro) c.1745A>C (p.His582Pro) c.1718A>C (p.His573Pro) c.1535A>C (p.His512Pro) c.1508A>C (p.His503Pro) | |
| 7 | g.70777158A>G | CA367669843 | AUTS2 | c.56A>G (p.His19Arg) c.1988A>G (p.His663Arg) c.86A>G (p.His29Arg) c.323A>G (p.His108Arg) c.81A>G n.656A>G c.569A>G (p.His190Arg) c.614A>G (p.His205Arg) c.1985A>G (p.His662Arg) n.299A>G c.853A>G c.1916A>G (p.His639Arg) c.86A>G n.654A>G n.485A>G n.356A>G c.1244A>G (p.His415Arg) c.1172A>G (p.His391Arg) c.635A>G (p.His212Arg) c.2009A>G (p.His670Arg) c.2006A>G (p.His669Arg) c.1943A>G (p.His648Arg) c.1937A>G (p.His646Arg) c.1907A>G (p.His636Arg) c.1745A>G (p.His582Arg) c.1718A>G (p.His573Arg) c.1535A>G (p.His512Arg) c.1508A>G (p.His503Arg) | |
| 7 | g.70777158A>T | CA367669842 | AUTS2 | c.56A>T (p.His19Leu) c.1988A>T (p.His663Leu) c.86A>T (p.His29Leu) c.323A>T (p.His108Leu) c.81A>T n.656A>T c.569A>T (p.His190Leu) c.614A>T (p.His205Leu) c.1985A>T (p.His662Leu) n.299A>T c.853A>T c.1916A>T (p.His639Leu) c.86A>T n.654A>T n.485A>T n.356A>T c.1244A>T (p.His415Leu) c.1172A>T (p.His391Leu) c.635A>T (p.His212Leu) c.2009A>T (p.His670Leu) c.2006A>T (p.His669Leu) c.1943A>T (p.His648Leu) c.1937A>T (p.His646Leu) c.1907A>T (p.His636Leu) c.1745A>T (p.His582Leu) c.1718A>T (p.His573Leu) c.1535A>T (p.His512Leu) c.1508A>T (p.His503Leu) | |
| 7 | g.70777159C>A | CA367669844 | AUTS2 | c.57C>A (p.His19Gln) c.1989C>A (p.His663Gln) c.87C>A (p.His29Gln) c.324C>A (p.His108Gln) c.82C>A n.657C>A c.570C>A (p.His190Gln) c.615C>A (p.His205Gln) c.1986C>A (p.His662Gln) n.300C>A c.854C>A c.1917C>A (p.His639Gln) c.87C>A n.655C>A n.486C>A n.357C>A c.1245C>A (p.His415Gln) c.1173C>A (p.His391Gln) c.636C>A (p.His212Gln) c.2010C>A (p.His670Gln) c.2007C>A (p.His669Gln) c.1944C>A (p.His648Gln) c.1938C>A (p.His646Gln) c.1908C>A (p.His636Gln) c.1746C>A (p.His582Gln) c.1719C>A (p.His573Gln) c.1536C>A (p.His512Gln) c.1509C>A (p.His503Gln) |