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.117591958_117591965delinsCAAAACTA | CA1737393826 | CFTR | c.1791_1798delinsCAAAACTA (p.Asn597=) c.*1505_*1512delinsCAAAACTA (n.*1505_*1512delinsCAAAACTA) c.1608_1615delinsCAAAACTA (p.Asn536=) c.*91_*98delinsCAAAACTA (n.*91_*98delinsCAAAACTA) c.*1615_*1622delinsCAAAACTA (n.*1615_*1622delinsCAAAACTA) c.1365_1372delinsCAAAACTA (p.Asn455=) c.1402-10868_1402-10861delinsCAAAACTA (n.1402-10868_1402-10861delinsCAAAACTA) c.1701_1708delinsCAAAACTA (p.Asn567=) c.1881_1888delinsCAAAACTA (p.Asn627=) c.1548_1555delinsCAAAACTA (p.Asn516=) | |
| 7 | g.117591959_117591965del | CA326676 | CFTR | c.1792_1798del (p.Lys598GlyfsTer11) c.*1506_*1512del (n.*1506_*1512del) c.1609_1615del (p.Lys537GlyfsTer11) c.*92_*98del (n.*92_*98del) c.*1616_*1622del (n.*1616_*1622del) c.1366_1372del (p.Lys456GlyfsTer11) c.1402-10867_1402-10861del (n.1402-10867_1402-10861del) c.1702_1708del (p.Lys568GlyfsTer11) c.1882_1888del (p.Lys628GlyfsTer11) c.1549_1555del (p.Lys517GlyfsTer11) | ClinVar dbSNP |
| 7 | g.117591964T>A | CA326677 | CFTR | c.1797T>A (p.Thr599=) c.*1511T>A (n.*1511T>A) c.1614T>A (p.Thr538=) c.*97T>A (n.*97T>A) c.*1621T>A (n.*1621T>A) c.1371T>A (p.Thr457=) c.1402-10862T>A (n.1402-10862T>A) c.1707T>A (p.Thr569=) c.1887T>A (p.Thr629=) c.1554T>A (p.Thr518=) | dbSNP |
| 7 | g.117591964T>C | CA457448820 | CFTR | c.1797T>C (p.Thr599=) c.*1511T>C (n.*1511T>C) c.1614T>C (p.Thr538=) c.*97T>C (n.*97T>C) c.*1621T>C (n.*1621T>C) c.1371T>C (p.Thr457=) c.1402-10862T>C (n.1402-10862T>C) c.1707T>C (p.Thr569=) c.1887T>C (p.Thr629=) c.1554T>C (p.Thr518=) | ClinVar |
| 7 | g.117591964T>G | CA457448821 | CFTR | c.1797T>G (p.Thr599=) c.*1511T>G (n.*1511T>G) c.1614T>G (p.Thr538=) c.*97T>G (n.*97T>G) c.*1621T>G (n.*1621T>G) c.1371T>G (p.Thr457=) c.1402-10862T>G (n.1402-10862T>G) c.1707T>G (p.Thr569=) c.1887T>G (p.Thr629=) c.1554T>G (p.Thr518=) | |
| 7 | g.117591964T= | CA1737393848 | CFTR | c.1797T= (p.Thr599=) c.*1511T= (n.*1511T=) c.1614T= (p.Thr538=) c.*97T= (n.*97T=) c.*1621T= (n.*1621T=) c.1371T= (p.Thr457=) c.1402-10862T= (n.1402-10862T=) c.1707T= (p.Thr569=) c.1887T= (p.Thr629=) c.1554T= (p.Thr518=) | |
| 7 | g.117591965A= | CA1737393851 | CFTR | c.1798A= (p.Arg600=) c.*1512A= (n.*1512A=) c.1615A= (p.Arg539=) c.*98A= (n.*98A=) c.*1622A= (n.*1622A=) c.1372A= (p.Arg458=) c.1402-10861A= (n.1402-10861A=) c.1708A= (p.Arg570=) c.1888A= (p.Arg630=) c.1555A= (p.Arg519=) | |
| 7 | g.117591965A>C | CA457448822 | CFTR | c.1798A>C (p.Arg600=) c.*1512A>C (n.*1512A>C) c.1615A>C (p.Arg539=) c.*98A>C (n.*98A>C) c.*1622A>C (n.*1622A>C) c.1372A>C (p.Arg458=) c.1402-10861A>C (n.1402-10861A>C) c.1708A>C (p.Arg570=) c.1888A>C (p.Arg630=) c.1555A>C (p.Arg519=) | |
| 7 | g.117591965A>G | CA326679 | CFTR | c.1798A>G (p.Arg600Gly) c.*1512A>G (n.*1512A>G) c.1615A>G (p.Arg539Gly) c.*98A>G (n.*98A>G) c.*1622A>G (n.*1622A>G) c.1372A>G (p.Arg458Gly) c.1402-10861A>G (n.1402-10861A>G) c.1708A>G (p.Arg570Gly) c.1888A>G (p.Arg630Gly) c.1555A>G (p.Arg519Gly) | ClinVar dbSNP |
| 7 | g.117591965A>T | CA368977930 | CFTR | c.1798A>T (p.Arg600Trp) c.*1512A>T (n.*1512A>T) c.1615A>T (p.Arg539Trp) c.*98A>T (n.*98A>T) c.*1622A>T (n.*1622A>T) c.1372A>T (p.Arg458Trp) c.1402-10861A>T (n.1402-10861A>T) c.1708A>T (p.Arg570Trp) c.1888A>T (p.Arg630Trp) c.1555A>T (p.Arg519Trp) | gnomAD v4 |
| 7 | g.117591966G>A | CA368977936 | CFTR | c.1799G>A (p.Arg600Lys) c.*1513G>A (n.*1513G>A) c.1616G>A (p.Arg539Lys) c.*99G>A (n.*99G>A) c.*1623G>A (n.*1623G>A) c.1373G>A (p.Arg458Lys) c.1402-10860G>A (n.1402-10860G>A) c.1709G>A (p.Arg570Lys) c.1889G>A (p.Arg630Lys) c.1556G>A (p.Arg519Lys) | |
| 7 | g.117591966G>C | CA368977939 | CFTR | c.1799G>C (p.Arg600Thr) c.*1513G>C (n.*1513G>C) c.1616G>C (p.Arg539Thr) c.*99G>C (n.*99G>C) c.*1623G>C (n.*1623G>C) c.1373G>C (p.Arg458Thr) c.1402-10860G>C (n.1402-10860G>C) c.1709G>C (p.Arg570Thr) c.1889G>C (p.Arg630Thr) c.1556G>C (p.Arg519Thr) | |
| 7 | g.117591966G>T | CA368977943 | CFTR | c.1799G>T (p.Arg600Met) c.*1513G>T (n.*1513G>T) c.1616G>T (p.Arg539Met) c.*99G>T (n.*99G>T) c.*1623G>T (n.*1623G>T) c.1373G>T (p.Arg458Met) c.1402-10860G>T (n.1402-10860G>T) c.1709G>T (p.Arg570Met) c.1889G>T (p.Arg630Met) c.1556G>T (p.Arg519Met) | |
| 7 | g.117591967del | CA2695208502 | CFTR | c.1800del (p.Ile601PhefsTer10) c.*1514del (n.*1514del) c.1617del (p.Ile540PhefsTer10) c.*100del (n.*100del) c.*1624del (n.*1624del) c.1374del (p.Ile459PhefsTer10) c.1402-10859del (n.1402-10859del) c.1710del (p.Ile571PhefsTer10) c.1890del (p.Ile631PhefsTer10) c.1557del (p.Ile520PhefsTer10) | |
| 7 | g.117591967G>A | CA457448823 | CFTR | c.1800G>A (p.Arg600=) c.*1514G>A (n.*1514G>A) c.1617G>A (p.Arg539=) c.*100G>A (n.*100G>A) c.*1624G>A (n.*1624G>A) c.1374G>A (p.Arg458=) c.1402-10859G>A (n.1402-10859G>A) c.1710G>A (p.Arg570=) c.1890G>A (p.Arg630=) c.1557G>A (p.Arg519=) | COSMIC |
| 7 | g.117591967G>C | CA368977947 | CFTR | c.1800G>C (p.Arg600Ser) c.*1514G>C (n.*1514G>C) c.1617G>C (p.Arg539Ser) c.*100G>C (n.*100G>C) c.*1624G>C (n.*1624G>C) c.1374G>C (p.Arg458Ser) c.1402-10859G>C (n.1402-10859G>C) c.1710G>C (p.Arg570Ser) c.1890G>C (p.Arg630Ser) c.1557G>C (p.Arg519Ser) | |
| 7 | g.117591967G>T | CA368977948 | CFTR | c.1800G>T (p.Arg600Ser) c.*1514G>T (n.*1514G>T) c.1617G>T (p.Arg539Ser) c.*100G>T (n.*100G>T) c.*1624G>T (n.*1624G>T) c.1374G>T (p.Arg458Ser) c.1402-10859G>T (n.1402-10859G>T) c.1710G>T (p.Arg570Ser) c.1890G>T (p.Arg630Ser) c.1557G>T (p.Arg519Ser) | |
| 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) |