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.33738986del | CA1139666021 | ASXL3 | c.1585del (p.Glu529LysfsTer3) c.1582del (p.Glu528LysfsTer3) c.*706del (n.*706del) c.*1241del (n.*1241del) c.1794del (n.1794del) c.1414del (p.Glu472LysfsTer3) c.1462del (p.Glu488LysfsTer3) c.1558del (p.Glu520LysfsTer3) c.1504del (p.Glu502LysfsTer3) c.1465del (p.Glu489LysfsTer3) | ClinVar dbSNP |
| 18 | g.33738986G>A | CA402175894 | ASXL3 | c.1585G>A (p.Glu529Lys) c.1582G>A (p.Glu528Lys) c.*706G>A (n.*706G>A) c.*1241G>A (n.*1241G>A) c.1794G>A (n.1794G>A) c.1414G>A (p.Glu472Lys) c.1462G>A (p.Glu488Lys) c.1558G>A (p.Glu520Lys) c.1504G>A (p.Glu502Lys) c.1465G>A (p.Glu489Lys) | |
| 18 | g.33738986G>C | CA402175895 | ASXL3 | c.1585G>C (p.Glu529Gln) c.1582G>C (p.Glu528Gln) c.*706G>C (n.*706G>C) c.*1241G>C (n.*1241G>C) c.1794G>C (n.1794G>C) c.1414G>C (p.Glu472Gln) c.1462G>C (p.Glu488Gln) c.1558G>C (p.Glu520Gln) c.1504G>C (p.Glu502Gln) c.1465G>C (p.Glu489Gln) | |
| 18 | g.33738986G= | CA2294855771 | ASXL3 | c.1585G= (p.Glu529=) c.1582G= (p.Glu528=) c.*706G= (n.*706G=) c.*1241G= (n.*1241G=) c.1794G= (n.1794G=) c.1414G= (p.Glu472=) c.1462G= (p.Glu488=) c.1558G= (p.Glu520=) c.1504G= (p.Glu502=) c.1465G= (p.Glu489=) | |
| 18 | g.33738986G>T | CA402175896 | ASXL3 | c.1585G>T (p.Glu529Ter) c.1582G>T (p.Glu528Ter) c.*706G>T (n.*706G>T) c.*1241G>T (n.*1241G>T) c.1794G>T (n.1794G>T) c.1414G>T (p.Glu472Ter) c.1462G>T (p.Glu488Ter) c.1558G>T (p.Glu520Ter) c.1504G>T (p.Glu502Ter) c.1465G>T (p.Glu489Ter) | ClinVar dbSNP |
| 18 | g.33738987A= | CA2294855772 | ASXL3 | c.1586A= (p.Glu529=) c.1583A= (p.Glu528=) c.*707A= (n.*707A=) c.*1242A= (n.*1242A=) c.1795A= (n.1795A=) c.1415A= (p.Glu472=) c.1463A= (p.Glu488=) c.1559A= (p.Glu520=) c.1505A= (p.Glu502=) c.1466A= (p.Glu489=) | |
| 18 | g.33738987A>C | CA402175898 | ASXL3 | c.1586A>C (p.Glu529Ala) c.1583A>C (p.Glu528Ala) c.*707A>C (n.*707A>C) c.*1242A>C (n.*1242A>C) c.1795A>C (n.1795A>C) c.1415A>C (p.Glu472Ala) c.1463A>C (p.Glu488Ala) c.1559A>C (p.Glu520Ala) c.1505A>C (p.Glu502Ala) c.1466A>C (p.Glu489Ala) | |
| 18 | g.33738987A>G | CA402175899 | ASXL3 | c.1586A>G (p.Glu529Gly) c.1583A>G (p.Glu528Gly) c.*707A>G (n.*707A>G) c.*1242A>G (n.*1242A>G) c.1795A>G (n.1795A>G) c.1415A>G (p.Glu472Gly) c.1463A>G (p.Glu488Gly) c.1559A>G (p.Glu520Gly) c.1505A>G (p.Glu502Gly) c.1466A>G (p.Glu489Gly) | dbSNP |
| 18 | g.33738987A>T | CA402175897 | ASXL3 | c.1586A>T (p.Glu529Val) c.1583A>T (p.Glu528Val) c.*707A>T (n.*707A>T) c.*1242A>T (n.*1242A>T) c.1795A>T (n.1795A>T) c.1415A>T (p.Glu472Val) c.1463A>T (p.Glu488Val) c.1559A>T (p.Glu520Val) c.1505A>T (p.Glu502Val) c.1466A>T (p.Glu489Val) | |
| 18 | g.33738988A>C | CA402175900 | ASXL3 | c.1587A>C (p.Glu529Asp) c.1584A>C (p.Glu528Asp) c.*708A>C (n.*708A>C) c.*1243A>C (n.*1243A>C) c.1796A>C (n.1796A>C) c.1416A>C (p.Glu472Asp) c.1464A>C (p.Glu488Asp) c.1560A>C (p.Glu520Asp) c.1506A>C (p.Glu502Asp) c.1467A>C (p.Glu489Asp) | |
| 18 | g.33738988A>G | CA503768664 | ASXL3 | c.1587A>G (p.Glu529=) c.1584A>G (p.Glu528=) c.*708A>G (n.*708A>G) c.*1243A>G (n.*1243A>G) c.1796A>G (n.1796A>G) c.1416A>G (p.Glu472=) c.1464A>G (p.Glu488=) c.1560A>G (p.Glu520=) c.1506A>G (p.Glu502=) c.1467A>G (p.Glu489=) | gnomAD v4 |
| 18 | g.33738988A>T | CA402175901 | ASXL3 | c.1587A>T (p.Glu529Asp) c.1584A>T (p.Glu528Asp) c.*708A>T (n.*708A>T) c.*1243A>T (n.*1243A>T) c.1796A>T (n.1796A>T) c.1416A>T (p.Glu472Asp) c.1464A>T (p.Glu488Asp) c.1560A>T (p.Glu520Asp) c.1506A>T (p.Glu502Asp) c.1467A>T (p.Glu489Asp) | |
| 18 | g.33738989G>A | CA402175902 | ASXL3 | c.1588G>A (p.Glu530Lys) c.1585G>A (p.Glu529Lys) c.*709G>A (n.*709G>A) c.*1244G>A (n.*1244G>A) c.1797G>A (n.1797G>A) c.1417G>A (p.Glu473Lys) c.1465G>A (p.Glu489Lys) c.1561G>A (p.Glu521Lys) c.1507G>A (p.Glu503Lys) c.1468G>A (p.Glu490Lys) | |
| 18 | g.33738989G>C | CA402175903 | ASXL3 | c.1588G>C (p.Glu530Gln) c.1585G>C (p.Glu529Gln) c.*709G>C (n.*709G>C) c.*1244G>C (n.*1244G>C) c.1797G>C (n.1797G>C) c.1417G>C (p.Glu473Gln) c.1465G>C (p.Glu489Gln) c.1561G>C (p.Glu521Gln) c.1507G>C (p.Glu503Gln) c.1468G>C (p.Glu490Gln) | |
| 18 | g.33738989G= | CA2294855773 | ASXL3 | c.1588G= (p.Glu530=) c.1585G= (p.Glu529=) c.*709G= (n.*709G=) c.*1244G= (n.*1244G=) c.1797G= (n.1797G=) c.1417G= (p.Glu473=) c.1465G= (p.Glu489=) c.1561G= (p.Glu521=) c.1507G= (p.Glu503=) c.1468G= (p.Glu490=) | |
| 18 | g.33738989G>T | CA402175904 | ASXL3 | c.1588G>T (p.Glu530Ter) c.1585G>T (p.Glu529Ter) c.*709G>T (n.*709G>T) c.*1244G>T (n.*1244G>T) c.1797G>T (n.1797G>T) c.1417G>T (p.Glu473Ter) c.1465G>T (p.Glu489Ter) c.1561G>T (p.Glu521Ter) c.1507G>T (p.Glu503Ter) c.1468G>T (p.Glu490Ter) | ClinVar dbSNP COSMIC COSMIC |
| 18 | g.33738990A>C | CA402175907 | ASXL3 | c.1589A>C (p.Glu530Ala) c.1586A>C (p.Glu529Ala) c.*710A>C (n.*710A>C) c.*1245A>C (n.*1245A>C) c.1798A>C (n.1798A>C) c.1418A>C (p.Glu473Ala) c.1466A>C (p.Glu489Ala) c.1562A>C (p.Glu521Ala) c.1508A>C (p.Glu503Ala) c.1469A>C (p.Glu490Ala) | |
| 18 | g.33738990A>G | CA402175905 | ASXL3 | c.1589A>G (p.Glu530Gly) c.1586A>G (p.Glu529Gly) c.*710A>G (n.*710A>G) c.*1245A>G (n.*1245A>G) c.1798A>G (n.1798A>G) c.1418A>G (p.Glu473Gly) c.1466A>G (p.Glu489Gly) c.1562A>G (p.Glu521Gly) c.1508A>G (p.Glu503Gly) c.1469A>G (p.Glu490Gly) | gnomAD v4 |
| 18 | g.33738990A>T | CA402175906 | ASXL3 | c.1589A>T (p.Glu530Val) c.1586A>T (p.Glu529Val) c.*710A>T (n.*710A>T) c.*1245A>T (n.*1245A>T) c.1798A>T (n.1798A>T) c.1418A>T (p.Glu473Val) c.1466A>T (p.Glu489Val) c.1562A>T (p.Glu521Val) c.1508A>T (p.Glu503Val) c.1469A>T (p.Glu490Val) | |
| 18 | g.33738991A>C | CA402175908 | ASXL3 | c.1590A>C (p.Glu530Asp) c.1587A>C (p.Glu529Asp) c.*711A>C (n.*711A>C) c.*1246A>C (n.*1246A>C) c.1799A>C (n.1799A>C) c.1419A>C (p.Glu473Asp) c.1467A>C (p.Glu489Asp) c.1563A>C (p.Glu521Asp) c.1509A>C (p.Glu503Asp) c.1470A>C (p.Glu490Asp) | |
| 18 | g.33738991A>G | CA503768669 | ASXL3 | c.1590A>G (p.Glu530=) c.1587A>G (p.Glu529=) c.*711A>G (n.*711A>G) c.*1246A>G (n.*1246A>G) c.1799A>G (n.1799A>G) c.1419A>G (p.Glu473=) c.1467A>G (p.Glu489=) c.1563A>G (p.Glu521=) c.1509A>G (p.Glu503=) c.1470A>G (p.Glu490=) | |
| 18 | g.33738991A>T | CA402175909 | ASXL3 | c.1590A>T (p.Glu530Asp) c.1587A>T (p.Glu529Asp) c.*711A>T (n.*711A>T) c.*1246A>T (n.*1246A>T) c.1799A>T (n.1799A>T) c.1419A>T (p.Glu473Asp) c.1467A>T (p.Glu489Asp) c.1563A>T (p.Glu521Asp) c.1509A>T (p.Glu503Asp) c.1470A>T (p.Glu490Asp) | |
| 18 | g.33738992A>C | CA402175910 | ASXL3 | c.1591A>C (p.Met531Leu) c.1588A>C (p.Met530Leu) c.*712A>C (n.*712A>C) c.*1247A>C (n.*1247A>C) c.1800A>C (n.1800A>C) c.1420A>C (p.Met474Leu) c.1468A>C (p.Met490Leu) c.1564A>C (p.Met522Leu) c.1510A>C (p.Met504Leu) c.1471A>C (p.Met491Leu) | |
| 18 | g.33738992A>G | CA402175911 | ASXL3 | c.1591A>G (p.Met531Val) c.1588A>G (p.Met530Val) c.*712A>G (n.*712A>G) c.*1247A>G (n.*1247A>G) c.1800A>G (n.1800A>G) c.1420A>G (p.Met474Val) c.1468A>G (p.Met490Val) c.1564A>G (p.Met522Val) c.1510A>G (p.Met504Val) c.1471A>G (p.Met491Val) | gnomAD v4 |
| 18 | g.33738992A>T | CA402175912 | ASXL3 | c.1591A>T (p.Met531Leu) c.1588A>T (p.Met530Leu) c.*712A>T (n.*712A>T) c.*1247A>T (n.*1247A>T) c.1800A>T (n.1800A>T) c.1420A>T (p.Met474Leu) c.1468A>T (p.Met490Leu) c.1564A>T (p.Met522Leu) c.1510A>T (p.Met504Leu) c.1471A>T (p.Met491Leu) | |
| 18 | g.33738993T>A | CA402175913 | ASXL3 | c.1592T>A (p.Met531Lys) c.1589T>A (p.Met530Lys) c.*713T>A (n.*713T>A) c.*1248T>A (n.*1248T>A) c.1801T>A (n.1801T>A) c.1421T>A (p.Met474Lys) c.1469T>A (p.Met490Lys) c.1565T>A (p.Met522Lys) c.1511T>A (p.Met504Lys) c.1472T>A (p.Met491Lys) | |
| 18 | g.33738993T>C | CA8933775 | ASXL3 | c.1592T>C (p.Met531Thr) c.1589T>C (p.Met530Thr) c.*713T>C (n.*713T>C) c.*1248T>C (n.*1248T>C) c.1801T>C (n.1801T>C) c.1421T>C (p.Met474Thr) c.1469T>C (p.Met490Thr) c.1565T>C (p.Met522Thr) c.1511T>C (p.Met504Thr) c.1472T>C (p.Met491Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33738993T>G | CA402175914 | ASXL3 | c.1592T>G (p.Met531Arg) c.1589T>G (p.Met530Arg) c.*713T>G (n.*713T>G) c.*1248T>G (n.*1248T>G) c.1801T>G (n.1801T>G) c.1421T>G (p.Met474Arg) c.1469T>G (p.Met490Arg) c.1565T>G (p.Met522Arg) c.1511T>G (p.Met504Arg) c.1472T>G (p.Met491Arg) | |
| 18 | g.33738993T= | CA2294855774 | ASXL3 | c.1592T= (p.Met531=) c.1589T= (p.Met530=) c.*713T= (n.*713T=) c.*1248T= (n.*1248T=) c.1801T= (n.1801T=) c.1421T= (p.Met474=) c.1469T= (p.Met490=) c.1565T= (p.Met522=) c.1511T= (p.Met504=) c.1472T= (p.Met491=) | |
| 18 | g.33738994G>A | CA402175915 | ASXL3 | c.1593G>A (p.Met531Ile) c.1590G>A (p.Met530Ile) c.*714G>A (n.*714G>A) c.*1249G>A (n.*1249G>A) c.1802G>A (n.1802G>A) c.1422G>A (p.Met474Ile) c.1470G>A (p.Met490Ile) c.1566G>A (p.Met522Ile) c.1512G>A (p.Met504Ile) c.1473G>A (p.Met491Ile) | |
| 18 | g.33738994G>C | CA402175917 | ASXL3 | c.1593G>C (p.Met531Ile) c.1590G>C (p.Met530Ile) c.*714G>C (n.*714G>C) c.*1249G>C (n.*1249G>C) c.1802G>C (n.1802G>C) c.1422G>C (p.Met474Ile) c.1470G>C (p.Met490Ile) c.1566G>C (p.Met522Ile) c.1512G>C (p.Met504Ile) c.1473G>C (p.Met491Ile) | |
| 18 | g.33738994G>T | CA402175916 | ASXL3 | c.1593G>T (p.Met531Ile) c.1590G>T (p.Met530Ile) c.*714G>T (n.*714G>T) c.*1249G>T (n.*1249G>T) c.1802G>T (n.1802G>T) c.1422G>T (p.Met474Ile) c.1470G>T (p.Met490Ile) c.1566G>T (p.Met522Ile) c.1512G>T (p.Met504Ile) c.1473G>T (p.Met491Ile) | |
| 18 | g.33738995A= | CA2294855775 | ASXL3 | c.1594A= (p.Thr532=) c.1591A= (p.Thr531=) c.*715A= (n.*715A=) c.*1250A= (n.*1250A=) c.1803A= (n.1803A=) c.1423A= (p.Thr475=) c.1471A= (p.Thr491=) c.1567A= (p.Thr523=) c.1513A= (p.Thr505=) c.1474A= (p.Thr492=) | |
| 18 | g.33738995A>C | CA402175918 | ASXL3 | c.1594A>C (p.Thr532Pro) c.1591A>C (p.Thr531Pro) c.*715A>C (n.*715A>C) c.*1250A>C (n.*1250A>C) c.1803A>C (n.1803A>C) c.1423A>C (p.Thr475Pro) c.1471A>C (p.Thr491Pro) c.1567A>C (p.Thr523Pro) c.1513A>C (p.Thr505Pro) c.1474A>C (p.Thr492Pro) | |
| 18 | g.33738995A>G | CA8933776 | ASXL3 | c.1594A>G (p.Thr532Ala) c.1591A>G (p.Thr531Ala) c.*715A>G (n.*715A>G) c.*1250A>G (n.*1250A>G) c.1803A>G (n.1803A>G) c.1423A>G (p.Thr475Ala) c.1471A>G (p.Thr491Ala) c.1567A>G (p.Thr523Ala) c.1513A>G (p.Thr505Ala) c.1474A>G (p.Thr492Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33738995A>T | CA402175919 | ASXL3 | c.1594A>T (p.Thr532Ser) c.1591A>T (p.Thr531Ser) c.*715A>T (n.*715A>T) c.*1250A>T (n.*1250A>T) c.1803A>T (n.1803A>T) c.1423A>T (p.Thr475Ser) c.1471A>T (p.Thr491Ser) c.1567A>T (p.Thr523Ser) c.1513A>T (p.Thr505Ser) c.1474A>T (p.Thr492Ser) | |
| 18 | g.33738996C>A | CA402175920 | ASXL3 | c.1595C>A (p.Thr532Lys) c.1592C>A (p.Thr531Lys) c.*716C>A (n.*716C>A) c.*1251C>A (n.*1251C>A) c.1804C>A (n.1804C>A) c.1424C>A (p.Thr475Lys) c.1472C>A (p.Thr491Lys) c.1568C>A (p.Thr523Lys) c.1514C>A (p.Thr505Lys) c.1475C>A (p.Thr492Lys) | |
| 18 | g.33738996C>G | CA402175921 | ASXL3 | c.1595C>G (p.Thr532Arg) c.1592C>G (p.Thr531Arg) c.*716C>G (n.*716C>G) c.*1251C>G (n.*1251C>G) c.1804C>G (n.1804C>G) c.1424C>G (p.Thr475Arg) c.1472C>G (p.Thr491Arg) c.1568C>G (p.Thr523Arg) c.1514C>G (p.Thr505Arg) c.1475C>G (p.Thr492Arg) | |
| 18 | g.33738996C>T | CA402175922 | ASXL3 | c.1595C>T (p.Thr532Ile) c.1592C>T (p.Thr531Ile) c.*716C>T (n.*716C>T) c.*1251C>T (n.*1251C>T) c.1804C>T (n.1804C>T) c.1424C>T (p.Thr475Ile) c.1472C>T (p.Thr491Ile) c.1568C>T (p.Thr523Ile) c.1514C>T (p.Thr505Ile) c.1475C>T (p.Thr492Ile) | |
| 18 | g.33738997A= | CA2294855776 | ASXL3 | c.1596A= (p.Thr532=) c.1593A= (p.Thr531=) c.*717A= (n.*717A=) c.*1252A= (n.*1252A=) c.1805A= (n.1805A=) c.1425A= (p.Thr475=) c.1473A= (p.Thr491=) c.1569A= (p.Thr523=) c.1515A= (p.Thr505=) c.1476A= (p.Thr492=) | |
| 18 | g.33738997A>C | CA503768682 | ASXL3 | c.1596A>C (p.Thr532=) c.1593A>C (p.Thr531=) c.*717A>C (n.*717A>C) c.*1252A>C (n.*1252A>C) c.1805A>C (n.1805A>C) c.1425A>C (p.Thr475=) c.1473A>C (p.Thr491=) c.1569A>C (p.Thr523=) c.1515A>C (p.Thr505=) c.1476A>C (p.Thr492=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33738997A>G | CA503768683 | ASXL3 | c.1596A>G (p.Thr532=) c.1593A>G (p.Thr531=) c.*717A>G (n.*717A>G) c.*1252A>G (n.*1252A>G) c.1805A>G (n.1805A>G) c.1425A>G (p.Thr475=) c.1473A>G (p.Thr491=) c.1569A>G (p.Thr523=) c.1515A>G (p.Thr505=) c.1476A>G (p.Thr492=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.33738997A>T | CA503768684 | ASXL3 | c.1596A>T (p.Thr532=) c.1593A>T (p.Thr531=) c.*717A>T (n.*717A>T) c.*1252A>T (n.*1252A>T) c.1805A>T (n.1805A>T) c.1425A>T (p.Thr475=) c.1473A>T (p.Thr491=) c.1569A>T (p.Thr523=) c.1515A>T (p.Thr505=) c.1476A>T (p.Thr492=) | |
| 18 | g.33738997_33739000delinsAGTT | CA2294855777 | ASXL3 | c.1596_1599delinsAGTT (p.Thr532=) c.1593_1596delinsAGTT (p.Thr531=) c.*717_*720delinsAGTT (n.*717_*720delinsAGTT) c.*1252_*1255delinsAGTT (n.*1252_*1255delinsAGTT) c.1805_1808delinsAGTT (n.1805_1808delinsAGTT) c.1425_1428delinsAGTT (p.Thr475=) c.1473_1476delinsAGTT (p.Thr491=) c.1569_1572delinsAGTT (p.Thr523=) c.1515_1518delinsAGTT (p.Thr505=) c.1476_1479delinsAGTT (p.Thr492=) | |
| 18 | g.33738998G>A | CA402175923 | ASXL3 | c.1597G>A (p.Val533Ile) c.1594G>A (p.Val532Ile) c.*718G>A (n.*718G>A) c.*1253G>A (n.*1253G>A) c.1806G>A (n.1806G>A) c.1426G>A (p.Val476Ile) c.1474G>A (p.Val492Ile) c.1570G>A (p.Val524Ile) c.1516G>A (p.Val506Ile) c.1477G>A (p.Val493Ile) | gnomAD v4 |
| 18 | g.33738998G>C | CA402175924 | ASXL3 | c.1597G>C (p.Val533Leu) c.1594G>C (p.Val532Leu) c.*718G>C (n.*718G>C) c.*1253G>C (n.*1253G>C) c.1806G>C (n.1806G>C) c.1426G>C (p.Val476Leu) c.1474G>C (p.Val492Leu) c.1570G>C (p.Val524Leu) c.1516G>C (p.Val506Leu) c.1477G>C (p.Val493Leu) | |
| 18 | g.33738998G>T | CA402175925 | ASXL3 | c.1597G>T (p.Val533Phe) c.1594G>T (p.Val532Phe) c.*718G>T (n.*718G>T) c.*1253G>T (n.*1253G>T) c.1806G>T (n.1806G>T) c.1426G>T (p.Val476Phe) c.1474G>T (p.Val492Phe) c.1570G>T (p.Val524Phe) c.1516G>T (p.Val506Phe) c.1477G>T (p.Val493Phe) | |
| 18 | g.33739001_33739003del | CA503768685 | ASXL3 | c.1600_1602del (p.Val534del) c.1597_1599del (p.Val533del) c.*721_*723del (n.*721_*723del) c.*1256_*1258del (n.*1256_*1258del) c.1809_1811del (n.1809_1811del) c.1429_1431del (p.Val477del) c.1477_1479del (p.Val493del) c.1573_1575del (p.Val525del) c.1519_1521del (p.Val507del) c.1480_1482del (p.Val494del) | dbSNP gnomAD v4 |