UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33736196_33741393del | CA1139666016 | ASXL3 | c.1085+1781_3042+950del c.1082+1781_3039+950del c.*206+1781_*2163+950del c.*741+1781_*2698+950del c.1294+1781_3251+950del c.914+1781_2871+950del c.962+1781_2919+950del c.1058+1781_3015+950del c.1004+1781_2961+950del c.965+1781_2922+950del | ClinVar |
| 18 | g.33736199_33741395del | CA915951347 | ASXL3 | c.1085+1784_3042+952del c.1082+1784_3039+952del c.*206+1784_*2163+952del c.*741+1784_*2698+952del c.1294+1784_3251+952del c.914+1784_2871+952del c.962+1784_2919+952del c.1058+1784_3015+952del c.1004+1784_2961+952del c.965+1784_2922+952del | |
| 18 | g.33739076_33739090del | CA8933791 | ASXL3 | c.1675_1689del (p.His559_Glu563del) c.1672_1686del (p.His558_Glu562del) c.*796_*810del (n.*796_*810del) c.*1331_*1345del (n.*1331_*1345del) c.1884_1898del (n.1884_1898del) c.1504_1518del (p.His502_Glu506del) c.1552_1566del (p.His518_Glu522del) c.1648_1662del (p.His550_Glu554del) c.1594_1608del (p.His532_Glu536del) c.1555_1569del (p.His519_Glu523del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33739086C>A | CA353436 | ASXL3 | c.1685C>A (p.Ser562Ter) c.1682C>A (p.Ser561Ter) c.*806C>A (n.*806C>A) c.*1341C>A (n.*1341C>A) c.1894C>A (n.1894C>A) c.1514C>A (p.Ser505Ter) c.1562C>A (p.Ser521Ter) c.1658C>A (p.Ser553Ter) c.1604C>A (p.Ser535Ter) c.1565C>A (p.Ser522Ter) | ClinVar dbSNP |
| 18 | g.33739086C= | CA2294855815 | ASXL3 | c.1685C= (p.Ser562=) c.1682C= (p.Ser561=) c.*806C= (n.*806C=) c.*1341C= (n.*1341C=) c.1894C= (n.1894C=) c.1514C= (p.Ser505=) c.1562C= (p.Ser521=) c.1658C= (p.Ser553=) c.1604C= (p.Ser535=) c.1565C= (p.Ser522=) | |
| 18 | g.33739086C>G | CA402176118 | ASXL3 | c.1685C>G (p.Ser562Ter) c.1682C>G (p.Ser561Ter) c.*806C>G (n.*806C>G) c.*1341C>G (n.*1341C>G) c.1894C>G (n.1894C>G) c.1514C>G (p.Ser505Ter) c.1562C>G (p.Ser521Ter) c.1658C>G (p.Ser553Ter) c.1604C>G (p.Ser535Ter) c.1565C>G (p.Ser522Ter) | |
| 18 | g.33739086C>T | CA402176117 | ASXL3 | c.1685C>T (p.Ser562Leu) c.1682C>T (p.Ser561Leu) c.*806C>T (n.*806C>T) c.*1341C>T (n.*1341C>T) c.1894C>T (n.1894C>T) c.1514C>T (p.Ser505Leu) c.1562C>T (p.Ser521Leu) c.1658C>T (p.Ser553Leu) c.1604C>T (p.Ser535Leu) c.1565C>T (p.Ser522Leu) | |
| 18 | g.33739087A>C | CA503768851 | ASXL3 | c.1686A>C (p.Ser562=) c.1683A>C (p.Ser561=) c.*807A>C (n.*807A>C) c.*1342A>C (n.*1342A>C) c.1895A>C (n.1895A>C) c.1515A>C (p.Ser505=) c.1563A>C (p.Ser521=) c.1659A>C (p.Ser553=) c.1605A>C (p.Ser535=) c.1566A>C (p.Ser522=) | |
| 18 | g.33739087A>G | CA503768853 | ASXL3 | c.1686A>G (p.Ser562=) c.1683A>G (p.Ser561=) c.*807A>G (n.*807A>G) c.*1342A>G (n.*1342A>G) c.1895A>G (n.1895A>G) c.1515A>G (p.Ser505=) c.1563A>G (p.Ser521=) c.1659A>G (p.Ser553=) c.1605A>G (p.Ser535=) c.1566A>G (p.Ser522=) | |
| 18 | g.33739087A>T | CA503768855 | ASXL3 | c.1686A>T (p.Ser562=) c.1683A>T (p.Ser561=) c.*807A>T (n.*807A>T) c.*1342A>T (n.*1342A>T) c.1895A>T (n.1895A>T) c.1515A>T (p.Ser505=) c.1563A>T (p.Ser521=) c.1659A>T (p.Ser553=) c.1605A>T (p.Ser535=) c.1566A>T (p.Ser522=) | |
| 18 | g.33739088G>A | CA402176119 | ASXL3 | c.1687G>A (p.Glu563Lys) c.1684G>A (p.Glu562Lys) c.*808G>A (n.*808G>A) c.*1343G>A (n.*1343G>A) c.1896G>A (n.1896G>A) c.1516G>A (p.Glu506Lys) c.1564G>A (p.Glu522Lys) c.1660G>A (p.Glu554Lys) c.1606G>A (p.Glu536Lys) c.1567G>A (p.Glu523Lys) | |
| 18 | g.33739088G>C | CA402176120 | ASXL3 | c.1687G>C (p.Glu563Gln) c.1684G>C (p.Glu562Gln) c.*808G>C (n.*808G>C) c.*1343G>C (n.*1343G>C) c.1896G>C (n.1896G>C) c.1516G>C (p.Glu506Gln) c.1564G>C (p.Glu522Gln) c.1660G>C (p.Glu554Gln) c.1606G>C (p.Glu536Gln) c.1567G>C (p.Glu523Gln) | |
| 18 | g.33739088G>T | CA402176121 | ASXL3 | c.1687G>T (p.Glu563Ter) c.1684G>T (p.Glu562Ter) c.*808G>T (n.*808G>T) c.*1343G>T (n.*1343G>T) c.1896G>T (n.1896G>T) c.1516G>T (p.Glu506Ter) c.1564G>T (p.Glu522Ter) c.1660G>T (p.Glu554Ter) c.1606G>T (p.Glu536Ter) c.1567G>T (p.Glu523Ter) | |
| 18 | g.33739089A>C | CA402176122 | ASXL3 | c.1688A>C (p.Glu563Ala) c.1685A>C (p.Glu562Ala) c.*809A>C (n.*809A>C) c.*1344A>C (n.*1344A>C) c.1897A>C (n.1897A>C) c.1517A>C (p.Glu506Ala) c.1565A>C (p.Glu522Ala) c.1661A>C (p.Glu554Ala) c.1607A>C (p.Glu536Ala) c.1568A>C (p.Glu523Ala) | |
| 18 | g.33739089A>G | CA402176123 | ASXL3 | c.1688A>G (p.Glu563Gly) c.1685A>G (p.Glu562Gly) c.*809A>G (n.*809A>G) c.*1344A>G (n.*1344A>G) c.1897A>G (n.1897A>G) c.1517A>G (p.Glu506Gly) c.1565A>G (p.Glu522Gly) c.1661A>G (p.Glu554Gly) c.1607A>G (p.Glu536Gly) c.1568A>G (p.Glu523Gly) | |
| 18 | g.33739089A>T | CA402176124 | ASXL3 | c.1688A>T (p.Glu563Val) c.1685A>T (p.Glu562Val) c.*809A>T (n.*809A>T) c.*1344A>T (n.*1344A>T) c.1897A>T (n.1897A>T) c.1517A>T (p.Glu506Val) c.1565A>T (p.Glu522Val) c.1661A>T (p.Glu554Val) c.1607A>T (p.Glu536Val) c.1568A>T (p.Glu523Val) | |
| 18 | g.33739090A>C | CA402176125 | ASXL3 | c.1689A>C (p.Glu563Asp) c.1686A>C (p.Glu562Asp) c.*810A>C (n.*810A>C) c.*1345A>C (n.*1345A>C) c.1898A>C (n.1898A>C) c.1518A>C (p.Glu506Asp) c.1566A>C (p.Glu522Asp) c.1662A>C (p.Glu554Asp) c.1608A>C (p.Glu536Asp) c.1569A>C (p.Glu523Asp) | |
| 18 | g.33739090A>G | CA503768859 | ASXL3 | c.1689A>G (p.Glu563=) c.1686A>G (p.Glu562=) c.*810A>G (n.*810A>G) c.*1345A>G (n.*1345A>G) c.1898A>G (n.1898A>G) c.1518A>G (p.Glu506=) c.1566A>G (p.Glu522=) c.1662A>G (p.Glu554=) c.1608A>G (p.Glu536=) c.1569A>G (p.Glu523=) | |
| 18 | g.33739090A>T | CA402176126 | ASXL3 | c.1689A>T (p.Glu563Asp) c.1686A>T (p.Glu562Asp) c.*810A>T (n.*810A>T) c.*1345A>T (n.*1345A>T) c.1898A>T (n.1898A>T) c.1518A>T (p.Glu506Asp) c.1566A>T (p.Glu522Asp) c.1662A>T (p.Glu554Asp) c.1608A>T (p.Glu536Asp) c.1569A>T (p.Glu523Asp) | |
| 18 | g.33739091A= | CA2294855816 | ASXL3 | c.1690A= (p.Thr564=) c.1687A= (p.Thr563=) c.*811A= (n.*811A=) c.*1346A= (n.*1346A=) c.1899A= (n.1899A=) c.1519A= (p.Thr507=) c.1567A= (p.Thr523=) c.1663A= (p.Thr555=) c.1609A= (p.Thr537=) c.1570A= (p.Thr524=) | |
| 18 | g.33739091A>C | CA402176127 | ASXL3 | c.1690A>C (p.Thr564Pro) c.1687A>C (p.Thr563Pro) c.*811A>C (n.*811A>C) c.*1346A>C (n.*1346A>C) c.1899A>C (n.1899A>C) c.1519A>C (p.Thr507Pro) c.1567A>C (p.Thr523Pro) c.1663A>C (p.Thr555Pro) c.1609A>C (p.Thr537Pro) c.1570A>C (p.Thr524Pro) | |
| 18 | g.33739091A>G | CA8933793 | ASXL3 | c.1690A>G (p.Thr564Ala) c.1687A>G (p.Thr563Ala) c.*811A>G (n.*811A>G) c.*1346A>G (n.*1346A>G) c.1899A>G (n.1899A>G) c.1519A>G (p.Thr507Ala) c.1567A>G (p.Thr523Ala) c.1663A>G (p.Thr555Ala) c.1609A>G (p.Thr537Ala) c.1570A>G (p.Thr524Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33739091A>T | CA402176128 | ASXL3 | c.1690A>T (p.Thr564Ser) c.1687A>T (p.Thr563Ser) c.*811A>T (n.*811A>T) c.*1346A>T (n.*1346A>T) c.1899A>T (n.1899A>T) c.1519A>T (p.Thr507Ser) c.1567A>T (p.Thr523Ser) c.1663A>T (p.Thr555Ser) c.1609A>T (p.Thr537Ser) c.1570A>T (p.Thr524Ser) | |
| 18 | g.33739092C>A | CA402176129 | ASXL3 | c.1691C>A (p.Thr564Asn) c.1688C>A (p.Thr563Asn) c.*812C>A (n.*812C>A) c.*1347C>A (n.*1347C>A) c.1900C>A (n.1900C>A) c.1520C>A (p.Thr507Asn) c.1568C>A (p.Thr523Asn) c.1664C>A (p.Thr555Asn) c.1610C>A (p.Thr537Asn) c.1571C>A (p.Thr524Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33739092C= | CA2294855817 | ASXL3 | c.1691C= (p.Thr564=) c.1688C= (p.Thr563=) c.*812C= (n.*812C=) c.*1347C= (n.*1347C=) c.1900C= (n.1900C=) c.1520C= (p.Thr507=) c.1568C= (p.Thr523=) c.1664C= (p.Thr555=) c.1610C= (p.Thr537=) c.1571C= (p.Thr524=) | |
| 18 | g.33739092C>G | CA402176130 | ASXL3 | c.1691C>G (p.Thr564Ser) c.1688C>G (p.Thr563Ser) c.*812C>G (n.*812C>G) c.*1347C>G (n.*1347C>G) c.1900C>G (n.1900C>G) c.1520C>G (p.Thr507Ser) c.1568C>G (p.Thr523Ser) c.1664C>G (p.Thr555Ser) c.1610C>G (p.Thr537Ser) c.1571C>G (p.Thr524Ser) | |
| 18 | g.33739092C>T | CA8933794 | ASXL3 | c.1691C>T (p.Thr564Ile) c.1688C>T (p.Thr563Ile) c.*812C>T (n.*812C>T) c.*1347C>T (n.*1347C>T) c.1900C>T (n.1900C>T) c.1520C>T (p.Thr507Ile) c.1568C>T (p.Thr523Ile) c.1664C>T (p.Thr555Ile) c.1610C>T (p.Thr537Ile) c.1571C>T (p.Thr524Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.33739093T>A | CA503768866 | ASXL3 | c.1692T>A (p.Thr564=) c.1689T>A (p.Thr563=) c.*813T>A (n.*813T>A) c.*1348T>A (n.*1348T>A) c.1901T>A (n.1901T>A) c.1521T>A (p.Thr507=) c.1569T>A (p.Thr523=) c.1665T>A (p.Thr555=) c.1611T>A (p.Thr537=) c.1572T>A (p.Thr524=) | |
| 18 | g.33739093T>C | CA503768867 | ASXL3 | c.1692T>C (p.Thr564=) c.1689T>C (p.Thr563=) c.*813T>C (n.*813T>C) c.*1348T>C (n.*1348T>C) c.1901T>C (n.1901T>C) c.1521T>C (p.Thr507=) c.1569T>C (p.Thr523=) c.1665T>C (p.Thr555=) c.1611T>C (p.Thr537=) c.1572T>C (p.Thr524=) | |
| 18 | g.33739093T>G | CA8933795 | ASXL3 | c.1692T>G (p.Thr564=) c.1689T>G (p.Thr563=) c.*813T>G (n.*813T>G) c.*1348T>G (n.*1348T>G) c.1901T>G (n.1901T>G) c.1521T>G (p.Thr507=) c.1569T>G (p.Thr523=) c.1665T>G (p.Thr555=) c.1611T>G (p.Thr537=) c.1572T>G (p.Thr524=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33739093T= | CA2294855818 | ASXL3 | c.1692T= (p.Thr564=) c.1689T= (p.Thr563=) c.*813T= (n.*813T=) c.*1348T= (n.*1348T=) c.1901T= (n.1901T=) c.1521T= (p.Thr507=) c.1569T= (p.Thr523=) c.1665T= (p.Thr555=) c.1611T= (p.Thr537=) c.1572T= (p.Thr524=) | |
| 18 | g.33739094G>A | CA297786913 | ASXL3 | c.1693G>A (p.Ala565Thr) c.1690G>A (p.Ala564Thr) c.*814G>A (n.*814G>A) c.*1349G>A (n.*1349G>A) c.1902G>A (n.1902G>A) c.1522G>A (p.Ala508Thr) c.1570G>A (p.Ala524Thr) c.1666G>A (p.Ala556Thr) c.1612G>A (p.Ala538Thr) c.1573G>A (p.Ala525Thr) | dbSNP |
| 18 | g.33739094G>C | CA402176131 | ASXL3 | c.1693G>C (p.Ala565Pro) c.1690G>C (p.Ala564Pro) c.*814G>C (n.*814G>C) c.*1349G>C (n.*1349G>C) c.1902G>C (n.1902G>C) c.1522G>C (p.Ala508Pro) c.1570G>C (p.Ala524Pro) c.1666G>C (p.Ala556Pro) c.1612G>C (p.Ala538Pro) c.1573G>C (p.Ala525Pro) | |
| 18 | g.33739094G= | CA2294855819 | ASXL3 | c.1693G= (p.Ala565=) c.1690G= (p.Ala564=) c.*814G= (n.*814G=) c.*1349G= (n.*1349G=) c.1902G= (n.1902G=) c.1522G= (p.Ala508=) c.1570G= (p.Ala524=) c.1666G= (p.Ala556=) c.1612G= (p.Ala538=) c.1573G= (p.Ala525=) | |
| 18 | g.33739094G>T | CA402176132 | ASXL3 | c.1693G>T (p.Ala565Ser) c.1690G>T (p.Ala564Ser) c.*814G>T (n.*814G>T) c.*1349G>T (n.*1349G>T) c.1902G>T (n.1902G>T) c.1522G>T (p.Ala508Ser) c.1570G>T (p.Ala524Ser) c.1666G>T (p.Ala556Ser) c.1612G>T (p.Ala538Ser) c.1573G>T (p.Ala525Ser) | gnomAD v4 |
| 18 | g.33739095C>A | CA297786917 | ASXL3 | c.1694C>A (p.Ala565Glu) c.1691C>A (p.Ala564Glu) c.*815C>A (n.*815C>A) c.*1350C>A (n.*1350C>A) c.1903C>A (n.1903C>A) c.1523C>A (p.Ala508Glu) c.1571C>A (p.Ala524Glu) c.1667C>A (p.Ala556Glu) c.1613C>A (p.Ala538Glu) c.1574C>A (p.Ala525Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.33739095C= | CA2294855820 | ASXL3 | c.1694C= (p.Ala565=) c.1691C= (p.Ala564=) c.*815C= (n.*815C=) c.*1350C= (n.*1350C=) c.1903C= (n.1903C=) c.1523C= (p.Ala508=) c.1571C= (p.Ala524=) c.1667C= (p.Ala556=) c.1613C= (p.Ala538=) c.1574C= (p.Ala525=) | |
| 18 | g.33739095C>G | CA402176133 | ASXL3 | c.1694C>G (p.Ala565Gly) c.1691C>G (p.Ala564Gly) c.*815C>G (n.*815C>G) c.*1350C>G (n.*1350C>G) c.1903C>G (n.1903C>G) c.1523C>G (p.Ala508Gly) c.1571C>G (p.Ala524Gly) c.1667C>G (p.Ala556Gly) c.1613C>G (p.Ala538Gly) c.1574C>G (p.Ala525Gly) | |
| 18 | g.33739095C>T | CA297786947 | ASXL3 | c.1694C>T (p.Ala565Val) c.1691C>T (p.Ala564Val) c.*815C>T (n.*815C>T) c.*1350C>T (n.*1350C>T) c.1903C>T (n.1903C>T) c.1523C>T (p.Ala508Val) c.1571C>T (p.Ala524Val) c.1667C>T (p.Ala556Val) c.1613C>T (p.Ala538Val) c.1574C>T (p.Ala525Val) | dbSNP gnomAD v4 |
| 18 | g.33739096A>C | CA503768508 | ASXL3 | c.1695A>C (p.Ala565=) c.1692A>C (p.Ala564=) c.*816A>C (n.*816A>C) c.*1351A>C (n.*1351A>C) c.1904A>C (n.1904A>C) c.1524A>C (p.Ala508=) c.1572A>C (p.Ala524=) c.1668A>C (p.Ala556=) c.1614A>C (p.Ala538=) c.1575A>C (p.Ala525=) | |
| 18 | g.33739096A>G | CA503768509 | ASXL3 | c.1695A>G (p.Ala565=) c.1692A>G (p.Ala564=) c.*816A>G (n.*816A>G) c.*1351A>G (n.*1351A>G) c.1904A>G (n.1904A>G) c.1524A>G (p.Ala508=) c.1572A>G (p.Ala524=) c.1668A>G (p.Ala556=) c.1614A>G (p.Ala538=) c.1575A>G (p.Ala525=) | |
| 18 | g.33739096A>T | CA503768511 | ASXL3 | c.1695A>T (p.Ala565=) c.1692A>T (p.Ala564=) c.*816A>T (n.*816A>T) c.*1351A>T (n.*1351A>T) c.1904A>T (n.1904A>T) c.1524A>T (p.Ala508=) c.1572A>T (p.Ala524=) c.1668A>T (p.Ala556=) c.1614A>T (p.Ala538=) c.1575A>T (p.Ala525=) | |
| 18 | g.33739097G>A | CA402176134 | ASXL3 | c.1696G>A (p.Val566Ile) c.1693G>A (p.Val565Ile) c.*817G>A (n.*817G>A) c.*1352G>A (n.*1352G>A) c.1905G>A (n.1905G>A) c.1525G>A (p.Val509Ile) c.1573G>A (p.Val525Ile) c.1669G>A (p.Val557Ile) c.1615G>A (p.Val539Ile) c.1576G>A (p.Val526Ile) | gnomAD v4 |
| 18 | g.33739097G>C | CA402176135 | ASXL3 | c.1696G>C (p.Val566Leu) c.1693G>C (p.Val565Leu) c.*817G>C (n.*817G>C) c.*1352G>C (n.*1352G>C) c.1905G>C (n.1905G>C) c.1525G>C (p.Val509Leu) c.1573G>C (p.Val525Leu) c.1669G>C (p.Val557Leu) c.1615G>C (p.Val539Leu) c.1576G>C (p.Val526Leu) | gnomAD v4 COSMIC COSMIC |
| 18 | g.33739097G>T | CA402176136 | ASXL3 | c.1696G>T (p.Val566Leu) c.1693G>T (p.Val565Leu) c.*817G>T (n.*817G>T) c.*1352G>T (n.*1352G>T) c.1905G>T (n.1905G>T) c.1525G>T (p.Val509Leu) c.1573G>T (p.Val525Leu) c.1669G>T (p.Val557Leu) c.1615G>T (p.Val539Leu) c.1576G>T (p.Val526Leu) | |
| 18 | g.33739098T>A | CA402176137 | ASXL3 | c.1697T>A (p.Val566Glu) c.1694T>A (p.Val565Glu) c.*818T>A (n.*818T>A) c.*1353T>A (n.*1353T>A) c.1906T>A (n.1906T>A) c.1526T>A (p.Val509Glu) c.1574T>A (p.Val525Glu) c.1670T>A (p.Val557Glu) c.1616T>A (p.Val539Glu) c.1577T>A (p.Val526Glu) | |
| 18 | g.33739098T>C | CA402176138 | ASXL3 | c.1697T>C (p.Val566Ala) c.1694T>C (p.Val565Ala) c.*818T>C (n.*818T>C) c.*1353T>C (n.*1353T>C) c.1906T>C (n.1906T>C) c.1526T>C (p.Val509Ala) c.1574T>C (p.Val525Ala) c.1670T>C (p.Val557Ala) c.1616T>C (p.Val539Ala) c.1577T>C (p.Val526Ala) | |
| 18 | g.33739098T>G | CA402176139 | ASXL3 | c.1697T>G (p.Val566Gly) c.1694T>G (p.Val565Gly) c.*818T>G (n.*818T>G) c.*1353T>G (n.*1353T>G) c.1906T>G (n.1906T>G) c.1526T>G (p.Val509Gly) c.1574T>G (p.Val525Gly) c.1670T>G (p.Val557Gly) c.1616T>G (p.Val539Gly) c.1577T>G (p.Val526Gly) | |
| 18 | g.33739098_33739100delinsTAG | CA2294855821 | ASXL3 | c.1697_1699delinsTAG (p.Val566=) c.1694_1696delinsTAG (p.Val565=) c.*818_*820delinsTAG (n.*818_*820delinsTAG) c.*1353_*1355delinsTAG (n.*1353_*1355delinsTAG) c.1906_1908delinsTAG (n.1906_1908delinsTAG) c.1526_1528delinsTAG (p.Val509=) c.1574_1576delinsTAG (p.Val525=) c.1670_1672delinsTAG (p.Val557=) c.1616_1618delinsTAG (p.Val539=) c.1577_1579delinsTAG (p.Val526=) | |
| 18 | g.33739099A>C | CA503768518 | ASXL3 | c.1698A>C (p.Val566=) c.1695A>C (p.Val565=) c.*819A>C (n.*819A>C) c.*1354A>C (n.*1354A>C) c.1907A>C (n.1907A>C) c.1527A>C (p.Val509=) c.1575A>C (p.Val525=) c.1671A>C (p.Val557=) c.1617A>C (p.Val539=) c.1578A>C (p.Val526=) |