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.117591251_117595608delinsCTACATTTGTACTA | CA2580076490 | CFTR | c.1767-683_2619+550delinsCTACATTTGTACTA c.*1481-683_*2333+550delinsCTACATTTGTACTA c.1584-683_2436+550delinsCTACATTTGTACTA c.*67-683_*919+550delinsCTACATTTGTACTA c.*1591-683_*2443+550delinsCTACATTTGTACTA c.1341-683_2193+550delinsCTACATTTGTACTA c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA) c.1677-683_2529+550delinsCTACATTTGTACTA c.1857-683_2709+550delinsCTACATTTGTACTA c.1524-683_2376+550delinsCTACATTTGTACTA | ClinVar |
| 7 | g.117591967_117591968delinsGA | CA1737393856 | CFTR | c.1800_1801delinsGA (p.Arg600=) c.*1514_*1515delinsGA (n.*1514_*1515delinsGA) c.1617_1618delinsGA (p.Arg539=) c.*100_*101delinsGA (n.*100_*101delinsGA) c.*1624_*1625delinsGA (n.*1624_*1625delinsGA) c.1374_1375delinsGA (p.Arg458=) c.1402-10859_1402-10858delinsGA (n.1402-10859_1402-10858delinsGA) c.1710_1711delinsGA (p.Arg570=) c.1890_1891delinsGA (p.Arg630=) c.1557_1558delinsGA (p.Arg519=) | |
| 7 | g.117591968del | CA1139660229 | CFTR | c.1801del (p.Ile601PhefsTer10) c.*1515del (n.*1515del) c.1618del (p.Ile540PhefsTer10) c.*101del (n.*101del) c.*1625del (n.*1625del) c.1375del (p.Ile459PhefsTer10) c.1402-10858del (n.1402-10858del) c.1711del (p.Ile571PhefsTer10) c.1891del (p.Ile631PhefsTer10) c.1558del (p.Ile520PhefsTer10) | ClinVar dbSNP |
| 7 | g.117591968A= | CA1737393862 | CFTR | c.1801A= (p.Ile601=) c.*1515A= (n.*1515A=) c.1618A= (p.Ile540=) c.*101A= (n.*101A=) c.*1625A= (n.*1625A=) c.1375A= (p.Ile459=) c.1402-10858A= (n.1402-10858A=) c.1711A= (p.Ile571=) c.1891A= (p.Ile631=) c.1558A= (p.Ile520=) | |
| 7 | g.117591968A>C | CA368977952 | CFTR | c.1801A>C (p.Ile601Leu) c.*1515A>C (n.*1515A>C) c.1618A>C (p.Ile540Leu) c.*101A>C (n.*101A>C) c.*1625A>C (n.*1625A>C) c.1375A>C (p.Ile459Leu) c.1402-10858A>C (n.1402-10858A>C) c.1711A>C (p.Ile571Leu) c.1891A>C (p.Ile631Leu) c.1558A>C (p.Ile520Leu) | |
| 7 | g.117591968A>G | CA368977959 | CFTR | c.1801A>G (p.Ile601Val) c.*1515A>G (n.*1515A>G) c.1618A>G (p.Ile540Val) c.*101A>G (n.*101A>G) c.*1625A>G (n.*1625A>G) c.1375A>G (p.Ile459Val) c.1402-10858A>G (n.1402-10858A>G) c.1711A>G (p.Ile571Val) c.1891A>G (p.Ile631Val) c.1558A>G (p.Ile520Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117591968A>T | CA326681 | CFTR | c.1801A>T (p.Ile601Phe) c.*1515A>T (n.*1515A>T) c.1618A>T (p.Ile540Phe) c.*101A>T (n.*101A>T) c.*1625A>T (n.*1625A>T) c.1375A>T (p.Ile459Phe) c.1402-10858A>T (n.1402-10858A>T) c.1711A>T (p.Ile571Phe) c.1891A>T (p.Ile631Phe) c.1558A>T (p.Ile520Phe) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117591969T>A | CA368977962 | CFTR | c.1802T>A (p.Ile601Asn) c.*1516T>A (n.*1516T>A) c.1619T>A (p.Ile540Asn) c.*102T>A (n.*102T>A) c.*1626T>A (n.*1626T>A) c.1376T>A (p.Ile459Asn) c.1402-10857T>A (n.1402-10857T>A) c.1712T>A (p.Ile571Asn) c.1892T>A (p.Ile631Asn) c.1559T>A (p.Ile520Asn) | |
| 7 | g.117591969T>C | CA326682 | CFTR | c.1802T>C (p.Ile601Thr) c.*1516T>C (n.*1516T>C) c.1619T>C (p.Ile540Thr) c.*102T>C (n.*102T>C) c.*1626T>C (n.*1626T>C) c.1376T>C (p.Ile459Thr) c.1402-10857T>C (n.1402-10857T>C) c.1712T>C (p.Ile571Thr) c.1892T>C (p.Ile631Thr) c.1559T>C (p.Ile520Thr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117591969T>G | CA368977979 | CFTR | c.1802T>G (p.Ile601Ser) c.*1516T>G (n.*1516T>G) c.1619T>G (p.Ile540Ser) c.*102T>G (n.*102T>G) c.*1626T>G (n.*1626T>G) c.1376T>G (p.Ile459Ser) c.1402-10857T>G (n.1402-10857T>G) c.1712T>G (p.Ile571Ser) c.1892T>G (p.Ile631Ser) c.1559T>G (p.Ile520Ser) | |
| 7 | g.117591969T= | CA1737393872 | CFTR | c.1802T= (p.Ile601=) c.*1516T= (n.*1516T=) c.1619T= (p.Ile540=) c.*102T= (n.*102T=) c.*1626T= (n.*1626T=) c.1376T= (p.Ile459=) c.1402-10857T= (n.1402-10857T=) c.1712T= (p.Ile571=) c.1892T= (p.Ile631=) c.1559T= (p.Ile520=) | |
| 7 | g.117591972del | CA2684619353 | CFTR | c.1805del (p.Leu602TrpfsTer9) c.*1519del (n.*1519del) c.1622del (p.Leu541TrpfsTer9) c.*105del (n.*105del) c.*1629del (n.*1629del) c.1379del (p.Leu460TrpfsTer9) c.1402-10854del (n.1402-10854del) c.1715del (p.Leu572TrpfsTer9) c.1895del (p.Leu632TrpfsTer9) c.1562del (p.Leu521TrpfsTer9) | gnomAD v4 |
| 7 | g.117591970T>A | CA457448824 | CFTR | c.1803T>A (p.Ile601=) c.*1517T>A (n.*1517T>A) c.1620T>A (p.Ile540=) c.*103T>A (n.*103T>A) c.*1627T>A (n.*1627T>A) c.1377T>A (p.Ile459=) c.1402-10856T>A (n.1402-10856T>A) c.1713T>A (p.Ile571=) c.1893T>A (p.Ile631=) c.1560T>A (p.Ile520=) | |
| 7 | g.117591970T>C | CA457448825 | CFTR | c.1803T>C (p.Ile601=) c.*1517T>C (n.*1517T>C) c.1620T>C (p.Ile540=) c.*103T>C (n.*103T>C) c.*1627T>C (n.*1627T>C) c.1377T>C (p.Ile459=) c.1402-10856T>C (n.1402-10856T>C) c.1713T>C (p.Ile571=) c.1893T>C (p.Ile631=) c.1560T>C (p.Ile520=) | |
| 7 | g.117591970T>G | CA368977985 | CFTR | c.1803T>G (p.Ile601Met) c.*1517T>G (n.*1517T>G) c.1620T>G (p.Ile540Met) c.*103T>G (n.*103T>G) c.*1627T>G (n.*1627T>G) c.1377T>G (p.Ile459Met) c.1402-10856T>G (n.1402-10856T>G) c.1713T>G (p.Ile571Met) c.1893T>G (p.Ile631Met) c.1560T>G (p.Ile520Met) | |
| 7 | g.117591971T>A | CA368977986 | CFTR | c.1804T>A (p.Leu602Met) c.*1518T>A (n.*1518T>A) c.1621T>A (p.Leu541Met) c.*104T>A (n.*104T>A) c.*1628T>A (n.*1628T>A) c.1378T>A (p.Leu460Met) c.1402-10855T>A (n.1402-10855T>A) c.1714T>A (p.Leu572Met) c.1894T>A (p.Leu632Met) c.1561T>A (p.Leu521Met) | |
| 7 | g.117591971T>C | CA457448826 | CFTR | c.1804T>C (p.Leu602=) c.*1518T>C (n.*1518T>C) c.1621T>C (p.Leu541=) c.*104T>C (n.*104T>C) c.*1628T>C (n.*1628T>C) c.1378T>C (p.Leu460=) c.1402-10855T>C (n.1402-10855T>C) c.1714T>C (p.Leu572=) c.1894T>C (p.Leu632=) c.1561T>C (p.Leu521=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117591971T>G | CA368977987 | CFTR | c.1804T>G (p.Leu602Val) c.*1518T>G (n.*1518T>G) c.1621T>G (p.Leu541Val) c.*104T>G (n.*104T>G) c.*1628T>G (n.*1628T>G) c.1378T>G (p.Leu460Val) c.1402-10855T>G (n.1402-10855T>G) c.1714T>G (p.Leu572Val) c.1894T>G (p.Leu632Val) c.1561T>G (p.Leu521Val) | |
| 7 | g.117591971T= | CA1737393878 | CFTR | c.1804T= (p.Leu602=) c.*1518T= (n.*1518T=) c.1621T= (p.Leu541=) c.*104T= (n.*104T=) c.*1628T= (n.*1628T=) c.1378T= (p.Leu460=) c.1402-10855T= (n.1402-10855T=) c.1714T= (p.Leu572=) c.1894T= (p.Leu632=) c.1561T= (p.Leu521=) | |
| 7 | g.117591972T>A | CA368977989 | CFTR | c.1805T>A (p.Leu602Ter) c.*1519T>A (n.*1519T>A) c.1622T>A (p.Leu541Ter) c.*105T>A (n.*105T>A) c.*1629T>A (n.*1629T>A) c.1379T>A (p.Leu460Ter) c.1402-10854T>A (n.1402-10854T>A) c.1715T>A (p.Leu572Ter) c.1895T>A (p.Leu632Ter) c.1562T>A (p.Leu521Ter) | |
| 7 | g.117591972T>C | CA368977994 | CFTR | c.1805T>C (p.Leu602Ser) c.*1519T>C (n.*1519T>C) c.1622T>C (p.Leu541Ser) c.*105T>C (n.*105T>C) c.*1629T>C (n.*1629T>C) c.1379T>C (p.Leu460Ser) c.1402-10854T>C (n.1402-10854T>C) c.1715T>C (p.Leu572Ser) c.1895T>C (p.Leu632Ser) c.1562T>C (p.Leu521Ser) | |
| 7 | g.117591972T>G | CA368977997 | CFTR | c.1805T>G (p.Leu602Trp) c.*1519T>G (n.*1519T>G) c.1622T>G (p.Leu541Trp) c.*105T>G (n.*105T>G) c.*1629T>G (n.*1629T>G) c.1379T>G (p.Leu460Trp) c.1402-10854T>G (n.1402-10854T>G) c.1715T>G (p.Leu572Trp) c.1895T>G (p.Leu632Trp) c.1562T>G (p.Leu521Trp) | |
| 7 | g.117591973G>A | CA457448827 | CFTR | c.1806G>A (p.Leu602=) c.*1520G>A (n.*1520G>A) c.1623G>A (p.Leu541=) c.*106G>A (n.*106G>A) c.*1630G>A (n.*1630G>A) c.1380G>A (p.Leu460=) c.1402-10853G>A (n.1402-10853G>A) c.1716G>A (p.Leu572=) c.1896G>A (p.Leu632=) c.1563G>A (p.Leu521=) | |
| 7 | g.117591973G>C | CA368978001 | CFTR | c.1806G>C (p.Leu602Phe) c.*1520G>C (n.*1520G>C) c.1623G>C (p.Leu541Phe) c.*106G>C (n.*106G>C) c.*1630G>C (n.*1630G>C) c.1380G>C (p.Leu460Phe) c.1402-10853G>C (n.1402-10853G>C) c.1716G>C (p.Leu572Phe) c.1896G>C (p.Leu632Phe) c.1563G>C (p.Leu521Phe) | |
| 7 | g.117591973G>T | CA368978005 | CFTR | c.1806G>T (p.Leu602Phe) c.*1520G>T (n.*1520G>T) c.1623G>T (p.Leu541Phe) c.*106G>T (n.*106G>T) c.*1630G>T (n.*1630G>T) c.1380G>T (p.Leu460Phe) c.1402-10853G>T (n.1402-10853G>T) c.1716G>T (p.Leu572Phe) c.1896G>T (p.Leu632Phe) c.1563G>T (p.Leu521Phe) | ClinVar |
| 7 | g.117591974del | CA2580076498 | CFTR | c.1807del (p.Val603SerfsTer8) c.*1521del (n.*1521del) c.1624del (p.Val542SerfsTer8) c.*107del (n.*107del) c.*1631del (n.*1631del) c.1381del (p.Val461SerfsTer8) c.1402-10852del (n.1402-10852del) c.1717del (p.Val573SerfsTer8) c.1897del (p.Val633SerfsTer8) c.1564del (p.Val522SerfsTer8) | ClinVar |
| 7 | g.117591974G>A | CA4451099 | CFTR | c.1807G>A (p.Val603Ile) c.*1521G>A (n.*1521G>A) c.1624G>A (p.Val542Ile) c.*107G>A (n.*107G>A) c.*1631G>A (n.*1631G>A) c.1381G>A (p.Val461Ile) c.1402-10852G>A (n.1402-10852G>A) c.1717G>A (p.Val573Ile) c.1897G>A (p.Val633Ile) c.1564G>A (p.Val522Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117591974G>C | CA368978013 | CFTR | c.1807G>C (p.Val603Leu) c.*1521G>C (n.*1521G>C) c.1624G>C (p.Val542Leu) c.*107G>C (n.*107G>C) c.*1631G>C (n.*1631G>C) c.1381G>C (p.Val461Leu) c.1402-10852G>C (n.1402-10852G>C) c.1717G>C (p.Val573Leu) c.1897G>C (p.Val633Leu) c.1564G>C (p.Val522Leu) | |
| 7 | g.117591974G= | CA1737393883 | CFTR | c.1807G= (p.Val603=) c.*1521G= (n.*1521G=) c.1624G= (p.Val542=) c.*107G= (n.*107G=) c.*1631G= (n.*1631G=) c.1381G= (p.Val461=) c.1402-10852G= (n.1402-10852G=) c.1717G= (p.Val573=) c.1897G= (p.Val633=) c.1564G= (p.Val522=) | |
| 7 | g.117591974G>T | CA326684 | CFTR | c.1807G>T (p.Val603Phe) c.*1521G>T (n.*1521G>T) c.1624G>T (p.Val542Phe) c.*107G>T (n.*107G>T) c.*1631G>T (n.*1631G>T) c.1381G>T (p.Val461Phe) c.1402-10852G>T (n.1402-10852G>T) c.1717G>T (p.Val573Phe) c.1897G>T (p.Val633Phe) c.1564G>T (p.Val522Phe) | ClinVar dbSNP |
| 7 | g.117591975T>A | CA368978016 | CFTR | c.1808T>A (p.Val603Asp) c.*1522T>A (n.*1522T>A) c.1625T>A (p.Val542Asp) c.*108T>A (n.*108T>A) c.*1632T>A (n.*1632T>A) c.1382T>A (p.Val461Asp) c.1402-10851T>A (n.1402-10851T>A) c.1718T>A (p.Val573Asp) c.1898T>A (p.Val633Asp) c.1565T>A (p.Val522Asp) | |
| 7 | g.117591975T>C | CA4451100 | CFTR | c.1808T>C (p.Val603Ala) c.*1522T>C (n.*1522T>C) c.1625T>C (p.Val542Ala) c.*108T>C (n.*108T>C) c.*1632T>C (n.*1632T>C) c.1382T>C (p.Val461Ala) c.1402-10851T>C (n.1402-10851T>C) c.1718T>C (p.Val573Ala) c.1898T>C (p.Val633Ala) c.1565T>C (p.Val522Ala) | dbSNP ExAC gnomAD v2 |
| 7 | g.117591975T>G | CA368978021 | CFTR | c.1808T>G (p.Val603Gly) c.*1522T>G (n.*1522T>G) c.1625T>G (p.Val542Gly) c.*108T>G (n.*108T>G) c.*1632T>G (n.*1632T>G) c.1382T>G (p.Val461Gly) c.1402-10851T>G (n.1402-10851T>G) c.1718T>G (p.Val573Gly) c.1898T>G (p.Val633Gly) c.1565T>G (p.Val522Gly) | |
| 7 | g.117591975T= | CA1737393890 | CFTR | c.1808T= (p.Val603=) c.*1522T= (n.*1522T=) c.1625T= (p.Val542=) c.*108T= (n.*108T=) c.*1632T= (n.*1632T=) c.1382T= (p.Val461=) c.1402-10851T= (n.1402-10851T=) c.1718T= (p.Val573=) c.1898T= (p.Val633=) c.1565T= (p.Val522=) | |
| 7 | g.117591976C>A | CA457448828 | CFTR | c.1809C>A (p.Val603=) c.*1523C>A (n.*1523C>A) c.1626C>A (p.Val542=) c.*109C>A (n.*109C>A) c.*1633C>A (n.*1633C>A) c.1383C>A (p.Val461=) c.1402-10850C>A (n.1402-10850C>A) c.1719C>A (p.Val573=) c.1899C>A (p.Val633=) c.1566C>A (p.Val522=) | gnomAD v4 |
| 7 | g.117591976C= | CA1737393893 | CFTR | c.1809C= (p.Val603=) c.*1523C= (n.*1523C=) c.1626C= (p.Val542=) c.*109C= (n.*109C=) c.*1633C= (n.*1633C=) c.1383C= (p.Val461=) c.1402-10850C= (n.1402-10850C=) c.1719C= (p.Val573=) c.1899C= (p.Val633=) c.1566C= (p.Val522=) | |
| 7 | g.117591976C>G | CA457448829 | CFTR | c.1809C>G (p.Val603=) c.*1523C>G (n.*1523C>G) c.1626C>G (p.Val542=) c.*109C>G (n.*109C>G) c.*1633C>G (n.*1633C>G) c.1383C>G (p.Val461=) c.1402-10850C>G (n.1402-10850C>G) c.1719C>G (p.Val573=) c.1899C>G (p.Val633=) c.1566C>G (p.Val522=) | |
| 7 | g.117591976C>T | CA4451101 | CFTR | c.1809C>T (p.Val603=) c.*1523C>T (n.*1523C>T) c.1626C>T (p.Val542=) c.*109C>T (n.*109C>T) c.*1633C>T (n.*1633C>T) c.1383C>T (p.Val461=) c.1402-10850C>T (n.1402-10850C>T) c.1719C>T (p.Val573=) c.1899C>T (p.Val633=) c.1566C>T (p.Val522=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117591977A= | CA1737393901 | CFTR | c.1810A= (p.Thr604=) c.*1524A= (n.*1524A=) c.1627A= (p.Thr543=) c.*110A= (n.*110A=) c.*1634A= (n.*1634A=) c.1384A= (p.Thr462=) c.1402-10849A= (n.1402-10849A=) c.1720A= (p.Thr574=) c.1900A= (p.Thr634=) c.1567A= (p.Thr523=) | |
| 7 | g.117591977A>C | CA368978040 | CFTR | c.1810A>C (p.Thr604Pro) c.*1524A>C (n.*1524A>C) c.1627A>C (p.Thr543Pro) c.*110A>C (n.*110A>C) c.*1634A>C (n.*1634A>C) c.1384A>C (p.Thr462Pro) c.1402-10849A>C (n.1402-10849A>C) c.1720A>C (p.Thr574Pro) c.1900A>C (p.Thr634Pro) c.1567A>C (p.Thr523Pro) | ClinVar dbSNP |
| 7 | g.117591977A>G | CA368978037 | CFTR | c.1810A>G (p.Thr604Ala) c.*1524A>G (n.*1524A>G) c.1627A>G (p.Thr543Ala) c.*110A>G (n.*110A>G) c.*1634A>G (n.*1634A>G) c.1384A>G (p.Thr462Ala) c.1402-10849A>G (n.1402-10849A>G) c.1720A>G (p.Thr574Ala) c.1900A>G (p.Thr634Ala) c.1567A>G (p.Thr523Ala) | |
| 7 | g.117591977A>T | CA368978029 | CFTR | c.1810A>T (p.Thr604Ser) c.*1524A>T (n.*1524A>T) c.1627A>T (p.Thr543Ser) c.*110A>T (n.*110A>T) c.*1634A>T (n.*1634A>T) c.1384A>T (p.Thr462Ser) c.1402-10849A>T (n.1402-10849A>T) c.1720A>T (p.Thr574Ser) c.1900A>T (p.Thr634Ser) c.1567A>T (p.Thr523Ser) | |
| 7 | g.117591978del | CA2739278626 | CFTR | c.1811del (p.Thr604IlefsTer7) c.*1525del (n.*1525del) c.1628del (p.Thr543IlefsTer7) c.*111del (n.*111del) c.*1635del (n.*1635del) c.1385del (p.Thr462IlefsTer7) c.1402-10848del (n.1402-10848del) c.1721del (p.Thr574IlefsTer7) c.1901del (p.Thr634IlefsTer7) c.1568del (p.Thr523IlefsTer7) | ClinVar |
| 7 | g.117591978C>A | CA368978046 | CFTR | c.1811C>A (p.Thr604Asn) c.*1525C>A (n.*1525C>A) c.1628C>A (p.Thr543Asn) c.*111C>A (n.*111C>A) c.*1635C>A (n.*1635C>A) c.1385C>A (p.Thr462Asn) c.1402-10848C>A (n.1402-10848C>A) c.1721C>A (p.Thr574Asn) c.1901C>A (p.Thr634Asn) c.1568C>A (p.Thr523Asn) | |
| 7 | g.117591978C= | CA1737393908 | CFTR | c.1811C= (p.Thr604=) c.*1525C= (n.*1525C=) c.1628C= (p.Thr543=) c.*111C= (n.*111C=) c.*1635C= (n.*1635C=) c.1385C= (p.Thr462=) c.1402-10848C= (n.1402-10848C=) c.1721C= (p.Thr574=) c.1901C= (p.Thr634=) c.1568C= (p.Thr523=) | |
| 7 | g.117591978C>G | CA326686 | CFTR | c.1811C>G (p.Thr604Ser) c.*1525C>G (n.*1525C>G) c.1628C>G (p.Thr543Ser) c.*111C>G (n.*111C>G) c.*1635C>G (n.*1635C>G) c.1385C>G (p.Thr462Ser) c.1402-10848C>G (n.1402-10848C>G) c.1721C>G (p.Thr574Ser) c.1901C>G (p.Thr634Ser) c.1568C>G (p.Thr523Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117591978C>T | CA326688 | CFTR | c.1811C>T (p.Thr604Ile) c.*1525C>T (n.*1525C>T) c.1628C>T (p.Thr543Ile) c.*111C>T (n.*111C>T) c.*1635C>T (n.*1635C>T) c.1385C>T (p.Thr462Ile) c.1402-10848C>T (n.1402-10848C>T) c.1721C>T (p.Thr574Ile) c.1901C>T (p.Thr634Ile) c.1568C>T (p.Thr523Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117591979T>A | CA457448830 | CFTR | c.1812T>A (p.Thr604=) c.*1526T>A (n.*1526T>A) c.1629T>A (p.Thr543=) c.*112T>A (n.*112T>A) c.*1636T>A (n.*1636T>A) c.1386T>A (p.Thr462=) c.1402-10847T>A (n.1402-10847T>A) c.1722T>A (p.Thr574=) c.1902T>A (p.Thr634=) c.1569T>A (p.Thr523=) | |
| 7 | g.117591979T>C | CA457448832 | CFTR | c.1812T>C (p.Thr604=) c.*1526T>C (n.*1526T>C) c.1629T>C (p.Thr543=) c.*112T>C (n.*112T>C) c.*1636T>C (n.*1636T>C) c.1386T>C (p.Thr462=) c.1402-10847T>C (n.1402-10847T>C) c.1722T>C (p.Thr574=) c.1902T>C (p.Thr634=) c.1569T>C (p.Thr523=) | |
| 7 | g.117591979T>G | CA457448831 | CFTR | c.1812T>G (p.Thr604=) c.*1526T>G (n.*1526T>G) c.1629T>G (p.Thr543=) c.*112T>G (n.*112T>G) c.*1636T>G (n.*1636T>G) c.1386T>G (p.Thr462=) c.1402-10847T>G (n.1402-10847T>G) c.1722T>G (p.Thr574=) c.1902T>G (p.Thr634=) c.1569T>G (p.Thr523=) |