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 |
|---|---|---|---|---|---|
| 7 | g.117590362C>A | CA368977029 | CFTR | c.1689C>A (p.Tyr563Ter) c.*1403C>A (n.*1403C>A) c.1506C>A (p.Tyr502Ter) c.1684C>A (p.Gln562Lys) c.*1513C>A (n.*1513C>A) c.1263C>A (p.Tyr421Ter) c.1402-12464C>A (n.1402-12464C>A) c.1599C>A (p.Tyr533Ter) c.1779C>A (p.Tyr593Ter) c.1446C>A (p.Tyr482Ter) | ClinVar gnomAD v4 |
| 7 | g.117590362C= | CA1737392265 | CFTR | c.1689C= (p.Tyr563=) c.*1403C= (n.*1403C=) c.1506C= (p.Tyr502=) c.1684C= (p.Gln562=) c.*1513C= (n.*1513C=) c.1263C= (p.Tyr421=) c.1402-12464C= (n.1402-12464C=) c.1599C= (p.Tyr533=) c.1779C= (p.Tyr593=) c.1446C= (p.Tyr482=) | |
| 7 | g.117590362C>G | CA368977032 | CFTR | c.1689C>G (p.Tyr563Ter) c.*1403C>G (n.*1403C>G) c.1506C>G (p.Tyr502Ter) c.1684C>G (p.Gln562Glu) c.*1513C>G (n.*1513C>G) c.1263C>G (p.Tyr421Ter) c.1402-12464C>G (n.1402-12464C>G) c.1599C>G (p.Tyr533Ter) c.1779C>G (p.Tyr593Ter) c.1446C>G (p.Tyr482Ter) | |
| 7 | g.117590362C>T | CA4451064 | CFTR | c.1689C>T (p.Tyr563=) c.*1403C>T (n.*1403C>T) c.1506C>T (p.Tyr502=) c.1684C>T (p.Gln562Ter) c.*1513C>T (n.*1513C>T) c.1263C>T (p.Tyr421=) c.1402-12464C>T (n.1402-12464C>T) c.1599C>T (p.Tyr533=) c.1779C>T (p.Tyr593=) c.1446C>T (p.Tyr482=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590362_117590363delinsCA | CA1737392264 | CFTR | c.1689_1690delinsCA (p.Tyr563=) c.*1403_*1404delinsCA (n.*1403_*1404delinsCA) c.1506_1507delinsCA (p.Tyr502=) c.1684_1685delinsCA (p.Gln562=) c.*1513_*1514delinsCA (n.*1513_*1514delinsCA) c.1263_1264delinsCA (p.Tyr421=) c.1402-12464_1402-12463delinsCA (n.1402-12464_1402-12463delinsCA) c.1599_1600delinsCA (p.Tyr533=) c.1779_1780delinsCA (p.Tyr593=) c.1446_1447delinsCA (p.Tyr482=) | |
| 7 | g.117590363A= | CA1737392267 | CFTR | c.1690A= (p.Lys564=) c.*1404A= (n.*1404A=) c.1507A= (p.Lys503=) c.1685A= (p.Gln562=) c.*1514A= (n.*1514A=) c.1264A= (p.Lys422=) c.1402-12463A= (n.1402-12463A=) c.1600A= (p.Lys534=) c.1780A= (p.Lys594=) c.1447A= (p.Lys483=) | |
| 7 | g.117590363A>C | CA368977036 | CFTR | c.1690A>C (p.Lys564Gln) c.*1404A>C (n.*1404A>C) c.1507A>C (p.Lys503Gln) c.1685A>C (p.Gln562Pro) c.*1514A>C (n.*1514A>C) c.1264A>C (p.Lys422Gln) c.1402-12463A>C (n.1402-12463A>C) c.1600A>C (p.Lys534Gln) c.1780A>C (p.Lys594Gln) c.1447A>C (p.Lys483Gln) | |
| 7 | g.117590363A>G | CA4451065 | CFTR | c.1690A>G (p.Lys564Glu) c.*1404A>G (n.*1404A>G) c.1507A>G (p.Lys503Glu) c.1685A>G (p.Gln562Arg) c.*1514A>G (n.*1514A>G) c.1264A>G (p.Lys422Glu) c.1402-12463A>G (n.1402-12463A>G) c.1600A>G (p.Lys534Glu) c.1780A>G (p.Lys594Glu) c.1447A>G (p.Lys483Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590363A>T | CA368977039 | CFTR | c.1690A>T (p.Lys564Ter) c.*1404A>T (n.*1404A>T) c.1507A>T (p.Lys503Ter) c.1685A>T (p.Gln562Leu) c.*1514A>T (n.*1514A>T) c.1264A>T (p.Lys422Ter) c.1402-12463A>T (n.1402-12463A>T) c.1600A>T (p.Lys534Ter) c.1780A>T (p.Lys594Ter) c.1447A>T (p.Lys483Ter) | |
| 7 | g.117590365del | CA325695 | CFTR | c.1692del (p.Asp565MetfsTer7) c.*1406del (n.*1406del) c.1509del (p.Asp504MetfsTer7) c.1687del (p.Arg563AspfsTer?) c.*1516del (n.*1516del) c.1266del (p.Asp423MetfsTer7) c.1402-12461del (n.1402-12461del) c.1602del (p.Asp535MetfsTer7) c.1782del (p.Asp595MetfsTer7) c.1449del (p.Asp484MetfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590364A= | CA1737392269 | CFTR | c.1691A= (p.Lys564=) c.*1405A= (n.*1405A=) c.1508A= (p.Lys503=) c.1686A= (p.Gln562=) c.*1515A= (n.*1515A=) c.1265A= (p.Lys422=) c.1402-12462A= (n.1402-12462A=) c.1601A= (p.Lys534=) c.1781A= (p.Lys594=) c.1448A= (p.Lys483=) | |
| 7 | g.117590364A>C | CA368977044 | CFTR | c.1691A>C (p.Lys564Thr) c.*1405A>C (n.*1405A>C) c.1508A>C (p.Lys503Thr) c.1686A>C (p.Gln562His) c.*1515A>C (n.*1515A>C) c.1265A>C (p.Lys422Thr) c.1402-12462A>C (n.1402-12462A>C) c.1601A>C (p.Lys534Thr) c.1781A>C (p.Lys594Thr) c.1448A>C (p.Lys483Thr) | |
| 7 | g.117590364A>G | CA164946289 | CFTR | c.1691A>G (p.Lys564Arg) c.*1405A>G (n.*1405A>G) c.1508A>G (p.Lys503Arg) c.1686A>G (p.Gln562=) c.*1515A>G (n.*1515A>G) c.1265A>G (p.Lys422Arg) c.1402-12462A>G (n.1402-12462A>G) c.1601A>G (p.Lys534Arg) c.1781A>G (p.Lys594Arg) c.1448A>G (p.Lys483Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590364A>T | CA368977047 | CFTR | c.1691A>T (p.Lys564Ile) c.*1405A>T (n.*1405A>T) c.1508A>T (p.Lys503Ile) c.1686A>T (p.Gln562His) c.*1515A>T (n.*1515A>T) c.1265A>T (p.Lys422Ile) c.1402-12462A>T (n.1402-12462A>T) c.1601A>T (p.Lys534Ile) c.1781A>T (p.Lys594Ile) c.1448A>T (p.Lys483Ile) | |
| 7 | g.117590365A>C | CA368977052 | CFTR | c.1692A>C (p.Lys564Asn) c.*1406A>C (n.*1406A>C) c.1509A>C (p.Lys503Asn) c.1687A>C (p.Arg563=) c.*1516A>C (n.*1516A>C) c.1266A>C (p.Lys422Asn) c.1402-12461A>C (n.1402-12461A>C) c.1602A>C (p.Lys534Asn) c.1782A>C (p.Lys594Asn) c.1449A>C (p.Lys483Asn) | |
| 7 | g.117590365A>G | CA457227390 | CFTR | c.1692A>G (p.Lys564=) c.*1406A>G (n.*1406A>G) c.1509A>G (p.Lys503=) c.1687A>G (p.Arg563Gly) c.*1516A>G (n.*1516A>G) c.1266A>G (p.Lys422=) c.1402-12461A>G (n.1402-12461A>G) c.1602A>G (p.Lys534=) c.1782A>G (p.Lys594=) c.1449A>G (p.Lys483=) | |
| 7 | g.117590365A>T | CA368977050 | CFTR | c.1692A>T (p.Lys564Asn) c.*1406A>T (n.*1406A>T) c.1509A>T (p.Lys503Asn) c.1687A>T (p.Arg563Ter) c.*1516A>T (n.*1516A>T) c.1266A>T (p.Lys422Asn) c.1402-12461A>T (n.1402-12461A>T) c.1602A>T (p.Lys534Asn) c.1782A>T (p.Lys594Asn) c.1449A>T (p.Lys483Asn) | |
| 7 | g.117590366G>A | CA368977053 | CFTR | c.1693G>A (p.Asp565Asn) c.*1407G>A (n.*1407G>A) c.1510G>A (p.Asp504Asn) c.1688G>A (p.Arg563Lys) c.*1517G>A (n.*1517G>A) c.1267G>A (p.Asp423Asn) c.1402-12460G>A (n.1402-12460G>A) c.1603G>A (p.Asp535Asn) c.1783G>A (p.Asp595Asn) c.1450G>A (p.Asp484Asn) | gnomAD v4 |
| 7 | g.117590366G>C | CA4451067 | CFTR | c.1693G>C (p.Asp565His) c.*1407G>C (n.*1407G>C) c.1510G>C (p.Asp504His) c.1688G>C (p.Arg563Thr) c.*1517G>C (n.*1517G>C) c.1267G>C (p.Asp423His) c.1402-12460G>C (n.1402-12460G>C) c.1603G>C (p.Asp535His) c.1783G>C (p.Asp595His) c.1450G>C (p.Asp484His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590366G= | CA1737392271 | CFTR | c.1693G= (p.Asp565=) c.*1407G= (n.*1407G=) c.1510G= (p.Asp504=) c.1688G= (p.Arg563=) c.*1517G= (n.*1517G=) c.1267G= (p.Asp423=) c.1402-12460G= (n.1402-12460G=) c.1603G= (p.Asp535=) c.1783G= (p.Asp595=) c.1450G= (p.Asp484=) | |
| 7 | g.117590366G>T | CA4451066 | CFTR | c.1693G>T (p.Asp565Tyr) c.*1407G>T (n.*1407G>T) c.1510G>T (p.Asp504Tyr) c.1688G>T (p.Arg563Ile) c.*1517G>T (n.*1517G>T) c.1267G>T (p.Asp423Tyr) c.1402-12460G>T (n.1402-12460G>T) c.1603G>T (p.Asp535Tyr) c.1783G>T (p.Asp595Tyr) c.1450G>T (p.Asp484Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590367A= | CA1737392273 | CFTR | c.1694A= (p.Asp565=) c.*1408A= (n.*1408A=) c.1511A= (p.Asp504=) c.1689A= (p.Arg563=) c.*1518A= (n.*1518A=) c.1268A= (p.Asp423=) c.1402-12459A= (n.1402-12459A=) c.1604A= (p.Asp535=) c.1784A= (p.Asp595=) c.1451A= (p.Asp484=) | |
| 7 | g.117590367A>C | CA368977058 | CFTR | c.1694A>C (p.Asp565Ala) c.*1408A>C (n.*1408A>C) c.1511A>C (p.Asp504Ala) c.1689A>C (p.Arg563Ser) c.*1518A>C (n.*1518A>C) c.1268A>C (p.Asp423Ala) c.1402-12459A>C (n.1402-12459A>C) c.1604A>C (p.Asp535Ala) c.1784A>C (p.Asp595Ala) c.1451A>C (p.Asp484Ala) | |
| 7 | g.117590367A>G | CA326611 | CFTR | c.1694A>G (p.Asp565Gly) c.*1408A>G (n.*1408A>G) c.1511A>G (p.Asp504Gly) c.1689A>G (p.Arg563=) c.*1518A>G (n.*1518A>G) c.1268A>G (p.Asp423Gly) c.1402-12459A>G (n.1402-12459A>G) c.1604A>G (p.Asp535Gly) c.1784A>G (p.Asp595Gly) c.1451A>G (p.Asp484Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117590367A>T | CA368977060 | CFTR | c.1694A>T (p.Asp565Val) c.*1408A>T (n.*1408A>T) c.1511A>T (p.Asp504Val) c.1689A>T (p.Arg563Ser) c.*1518A>T (n.*1518A>T) c.1268A>T (p.Asp423Val) c.1402-12459A>T (n.1402-12459A>T) c.1604A>T (p.Asp535Val) c.1784A>T (p.Asp595Val) c.1451A>T (p.Asp484Val) | gnomAD v4 |
| 7 | g.117590368T>A | CA368977063 | CFTR | c.1695T>A (p.Asp565Glu) c.*1409T>A (n.*1409T>A) c.1512T>A (p.Asp504Glu) c.1690T>A (p.Cys564Ser) c.*1519T>A (n.*1519T>A) c.1269T>A (p.Asp423Glu) c.1402-12458T>A (n.1402-12458T>A) c.1605T>A (p.Asp535Glu) c.1785T>A (p.Asp595Glu) c.1452T>A (p.Asp484Glu) | |
| 7 | g.117590368T>C | CA457227391 | CFTR | c.1695T>C (p.Asp565=) c.*1409T>C (n.*1409T>C) c.1512T>C (p.Asp504=) c.1690T>C (p.Cys564Arg) c.*1519T>C (n.*1519T>C) c.1269T>C (p.Asp423=) c.1402-12458T>C (n.1402-12458T>C) c.1605T>C (p.Asp535=) c.1785T>C (p.Asp595=) c.1452T>C (p.Asp484=) | |
| 7 | g.117590368T>G | CA368977066 | CFTR | c.1695T>G (p.Asp565Glu) c.*1409T>G (n.*1409T>G) c.1512T>G (p.Asp504Glu) c.1690T>G (p.Cys564Gly) c.*1519T>G (n.*1519T>G) c.1269T>G (p.Asp423Glu) c.1402-12458T>G (n.1402-12458T>G) c.1605T>G (p.Asp535Glu) c.1785T>G (p.Asp595Glu) c.1452T>G (p.Asp484Glu) | |
| 7 | g.117590369G>A | CA326613 | CFTR | c.1696G>A (p.Ala566Thr) c.*1410G>A (n.*1410G>A) c.1513G>A (p.Ala505Thr) c.1691G>A (p.Cys564Tyr) c.*1520G>A (n.*1520G>A) c.1270G>A (p.Ala424Thr) c.1402-12457G>A (n.1402-12457G>A) c.1606G>A (p.Ala536Thr) c.1786G>A (p.Ala596Thr) c.1453G>A (p.Ala485Thr) | ClinVar dbSNP |
| 7 | g.117590369G>C | CA368977070 | CFTR | c.1696G>C (p.Ala566Pro) c.*1410G>C (n.*1410G>C) c.1513G>C (p.Ala505Pro) c.1691G>C (p.Cys564Ser) c.*1520G>C (n.*1520G>C) c.1270G>C (p.Ala424Pro) c.1402-12457G>C (n.1402-12457G>C) c.1606G>C (p.Ala536Pro) c.1786G>C (p.Ala596Pro) c.1453G>C (p.Ala485Pro) | |
| 7 | g.117590369G= | CA1737392279 | CFTR | c.1696G= (p.Ala566=) c.*1410G= (n.*1410G=) c.1513G= (p.Ala505=) c.1691G= (p.Cys564=) c.*1520G= (n.*1520G=) c.1270G= (p.Ala424=) c.1402-12457G= (n.1402-12457G=) c.1606G= (p.Ala536=) c.1786G= (p.Ala596=) c.1453G= (p.Ala485=) | |
| 7 | g.117590369G>T | CA368977072 | CFTR | c.1696G>T (p.Ala566Ser) c.*1410G>T (n.*1410G>T) c.1513G>T (p.Ala505Ser) c.1691G>T (p.Cys564Phe) c.*1520G>T (n.*1520G>T) c.1270G>T (p.Ala424Ser) c.1402-12457G>T (n.1402-12457G>T) c.1606G>T (p.Ala536Ser) c.1786G>T (p.Ala596Ser) c.1453G>T (p.Ala485Ser) | |
| 7 | g.117590370C>A | CA368977074 | CFTR | c.1697C>A (p.Ala566Asp) c.*1411C>A (n.*1411C>A) c.1514C>A (p.Ala505Asp) c.1692C>A (p.Cys564Ter) c.*1521C>A (n.*1521C>A) c.1271C>A (p.Ala424Asp) c.1402-12456C>A (n.1402-12456C>A) c.1607C>A (p.Ala536Asp) c.1787C>A (p.Ala596Asp) c.1454C>A (p.Ala485Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117590370C= | CA1737392281 | CFTR | c.1697C= (p.Ala566=) c.*1411C= (n.*1411C=) c.1514C= (p.Ala505=) c.1692C= (p.Cys564=) c.*1521C= (n.*1521C=) c.1271C= (p.Ala424=) c.1402-12456C= (n.1402-12456C=) c.1607C= (p.Ala536=) c.1787C= (p.Ala596=) c.1454C= (p.Ala485=) | |
| 7 | g.117590370C>G | CA368977077 | CFTR | c.1697C>G (p.Ala566Gly) c.*1411C>G (n.*1411C>G) c.1514C>G (p.Ala505Gly) c.1692C>G (p.Cys564Trp) c.*1521C>G (n.*1521C>G) c.1271C>G (p.Ala424Gly) c.1402-12456C>G (n.1402-12456C>G) c.1607C>G (p.Ala536Gly) c.1787C>G (p.Ala596Gly) c.1454C>G (p.Ala485Gly) | |
| 7 | g.117590370C>T | CA368977079 | CFTR | c.1697C>T (p.Ala566Val) c.*1411C>T (n.*1411C>T) c.1514C>T (p.Ala505Val) c.1692C>T (p.Cys564=) c.*1521C>T (n.*1521C>T) c.1271C>T (p.Ala424Val) c.1402-12456C>T (n.1402-12456C>T) c.1607C>T (p.Ala536Val) c.1787C>T (p.Ala596Val) c.1454C>T (p.Ala485Val) | |
| 7 | g.117590371T>A | CA457227397 | CFTR | c.1698T>A (p.Ala566=) c.*1412T>A (n.*1412T>A) c.1515T>A (p.Ala505=) c.1693T>A (p.Ter565Arg) c.*1522T>A (n.*1522T>A) c.1272T>A (p.Ala424=) c.1402-12455T>A (n.1402-12455T>A) c.1608T>A (p.Ala536=) c.1788T>A (p.Ala596=) c.1455T>A (p.Ala485=) | |
| 7 | g.117590371T>C | CA457227400 | CFTR | c.1698T>C (p.Ala566=) c.*1412T>C (n.*1412T>C) c.1515T>C (p.Ala505=) c.1693T>C (p.Ter565Arg) c.*1522T>C (n.*1522T>C) c.1272T>C (p.Ala424=) c.1402-12455T>C (n.1402-12455T>C) c.1608T>C (p.Ala536=) c.1788T>C (p.Ala596=) c.1455T>C (p.Ala485=) | |
| 7 | g.117590371T>G | CA457227398 | CFTR | c.1698T>G (p.Ala566=) c.*1412T>G (n.*1412T>G) c.1515T>G (p.Ala505=) c.1693T>G (p.Ter565Gly) c.*1522T>G (n.*1522T>G) c.1272T>G (p.Ala424=) c.1402-12455T>G (n.1402-12455T>G) c.1608T>G (p.Ala536=) c.1788T>G (p.Ala596=) c.1455T>G (p.Ala485=) | |
| 7 | g.117590372G>A | CA368977082 | CFTR | c.1699G>A (p.Asp567Asn) c.*1413G>A (n.*1413G>A) c.1516G>A (p.Asp506Asn) c.1694G>A (p.Ter565=) c.*1523G>A (n.*1523G>A) c.1273G>A (p.Asp425Asn) c.1402-12454G>A (n.1402-12454G>A) c.1609G>A (p.Asp537Asn) c.1789G>A (p.Asp597Asn) c.1456G>A (p.Asp486Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117590372G>C | CA368977084 | CFTR | c.1699G>C (p.Asp567His) c.*1413G>C (n.*1413G>C) c.1516G>C (p.Asp506His) c.1694G>C (p.Ter565Ser) c.*1523G>C (n.*1523G>C) c.1273G>C (p.Asp425His) c.1402-12454G>C (n.1402-12454G>C) c.1609G>C (p.Asp537His) c.1789G>C (p.Asp597His) c.1456G>C (p.Asp486His) | |
| 7 | g.117590372G= | CA1737392285 | CFTR | c.1699G= (p.Asp567=) c.*1413G= (n.*1413G=) c.1516G= (p.Asp506=) c.1694G= (p.Ter565=) c.*1523G= (n.*1523G=) c.1273G= (p.Asp425=) c.1402-12454G= (n.1402-12454G=) c.1609G= (p.Asp537=) c.1789G= (p.Asp597=) c.1456G= (p.Asp486=) | |
| 7 | g.117590372G>T | CA368977085 | CFTR | c.1699G>T (p.Asp567Tyr) c.*1413G>T (n.*1413G>T) c.1516G>T (p.Asp506Tyr) c.1694G>T (p.Ter565Leu) c.*1523G>T (n.*1523G>T) c.1273G>T (p.Asp425Tyr) c.1402-12454G>T (n.1402-12454G>T) c.1609G>T (p.Asp537Tyr) c.1789G>T (p.Asp597Tyr) c.1456G>T (p.Asp486Tyr) | gnomAD v4 |
| 7 | g.117590373A= | CA1737392289 | CFTR | c.1700A= (p.Asp567=) c.*1414A= (n.*1414A=) c.1517A= (p.Asp506=) c.1695A= (p.Ter565=) c.*1524A= (n.*1524A=) c.1274A= (p.Asp425=) c.1402-12453A= (n.1402-12453A=) c.1610A= (p.Asp537=) c.1790A= (p.Asp597=) c.1457A= (p.Asp486=) | |
| 7 | g.117590373A>C | CA368977086 | CFTR | c.1700A>C (p.Asp567Ala) c.*1414A>C (n.*1414A>C) c.1517A>C (p.Asp506Ala) c.1695A>C (p.Ter565Cys) c.*1524A>C (n.*1524A>C) c.1274A>C (p.Asp425Ala) c.1402-12453A>C (n.1402-12453A>C) c.1610A>C (p.Asp537Ala) c.1790A>C (p.Asp597Ala) c.1457A>C (p.Asp486Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117590373A>G | CA368977089 | CFTR | c.1700A>G (p.Asp567Gly) c.*1414A>G (n.*1414A>G) c.1517A>G (p.Asp506Gly) c.1695A>G (p.Ter565Trp) c.*1524A>G (n.*1524A>G) c.1274A>G (p.Asp425Gly) c.1402-12453A>G (n.1402-12453A>G) c.1610A>G (p.Asp537Gly) c.1790A>G (p.Asp597Gly) c.1457A>G (p.Asp486Gly) | |
| 7 | g.117590373A>T | CA368977091 | CFTR | c.1700A>T (p.Asp567Val) c.*1414A>T (n.*1414A>T) c.1517A>T (p.Asp506Val) c.1695A>T (p.Ter565Cys) c.*1524A>T (n.*1524A>T) c.1274A>T (p.Asp425Val) c.1402-12453A>T (n.1402-12453A>T) c.1610A>T (p.Asp537Val) c.1790A>T (p.Asp597Val) c.1457A>T (p.Asp486Val) | |
| 7 | g.117590373_117590374delinsAT | CA1737392287 | CFTR | c.1700_1701delinsAT (p.Asp567=) c.*1414_*1415delinsAT (n.*1414_*1415delinsAT) c.1517_1518delinsAT (p.Asp506=) c.1695_*1delinsAT (n.[c.1695_*1delinsAT;Ter565=]) c.*1524_*1525delinsAT (n.*1524_*1525delinsAT) c.1274_1275delinsAT (p.Asp425=) c.1402-12453_1402-12452delinsAT (n.1402-12453_1402-12452delinsAT) c.1610_1611delinsAT (p.Asp537=) c.1790_1791delinsAT (p.Asp597=) c.1457_1458delinsAT (p.Asp486=) | |
| 7 | g.117590374T>A | CA368977093 | CFTR | c.1701T>A (p.Asp567Glu) c.*1415T>A (n.*1415T>A) c.1518T>A (p.Asp506Glu) c.*1T>A (n.*1T>A) c.*1525T>A (n.*1525T>A) c.1275T>A (p.Asp425Glu) c.1402-12452T>A (n.1402-12452T>A) c.1611T>A (p.Asp537Glu) c.1791T>A (p.Asp597Glu) c.1458T>A (p.Asp486Glu) | |
| 7 | g.117590374T>C | CA457227404 | CFTR | c.1701T>C (p.Asp567=) c.*1415T>C (n.*1415T>C) c.1518T>C (p.Asp506=) c.*1T>C (n.*1T>C) c.*1525T>C (n.*1525T>C) c.1275T>C (p.Asp425=) c.1402-12452T>C (n.1402-12452T>C) c.1611T>C (p.Asp537=) c.1791T>C (p.Asp597=) c.1458T>C (p.Asp486=) | gnomAD v4 |