| 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.117591959A= | CA1737393841 | CFTR | c.1792A= (p.Lys598=) c.*1506A= (n.*1506A=) c.1609A= (p.Lys537=) c.*92A= (n.*92A=) c.*1616A= (n.*1616A=) c.1366A= (p.Lys456=) c.1402-10867A= (n.1402-10867A=) c.1702A= (p.Lys568=) c.1882A= (p.Lys628=) c.1549A= (p.Lys517=) | |
| 7 | g.117591959A>C | CA368977871 | CFTR | c.1792A>C (p.Lys598Gln) c.*1506A>C (n.*1506A>C) c.1609A>C (p.Lys537Gln) c.*92A>C (n.*92A>C) c.*1616A>C (n.*1616A>C) c.1366A>C (p.Lys456Gln) c.1402-10867A>C (n.1402-10867A>C) c.1702A>C (p.Lys568Gln) c.1882A>C (p.Lys628Gln) c.1549A>C (p.Lys517Gln) | gnomAD v4 |
| 7 | g.117591959A>G | CA368977872 | CFTR | c.1792A>G (p.Lys598Glu) c.*1506A>G (n.*1506A>G) c.1609A>G (p.Lys537Glu) c.*92A>G (n.*92A>G) c.*1616A>G (n.*1616A>G) c.1366A>G (p.Lys456Glu) c.1402-10867A>G (n.1402-10867A>G) c.1702A>G (p.Lys568Glu) c.1882A>G (p.Lys628Glu) c.1549A>G (p.Lys517Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117591959A>T | CA326674 | CFTR | c.1792A>T (p.Lys598Ter) c.*1506A>T (n.*1506A>T) c.1609A>T (p.Lys537Ter) c.*92A>T (n.*92A>T) c.*1616A>T (n.*1616A>T) c.1366A>T (p.Lys456Ter) c.1402-10867A>T (n.1402-10867A>T) c.1702A>T (p.Lys568Ter) c.1882A>T (p.Lys628Ter) c.1549A>T (p.Lys517Ter) | ClinVar dbSNP |
| 7 | g.117591962dup | CA2695208501 | CFTR | c.1795dup (p.Thr599AsnfsTer2) c.*1509dup (n.*1509dup) c.1612dup (p.Thr538AsnfsTer2) c.*95dup (n.*95dup) c.*1619dup (n.*1619dup) c.1369dup (p.Thr457AsnfsTer2) c.1402-10864dup (n.1402-10864dup) c.1705dup (p.Thr569AsnfsTer2) c.1885dup (p.Thr629AsnfsTer2) c.1552dup (p.Thr518AsnfsTer2) | |
| 7 | g.117591960_117591962dup | CA2695208500 | CFTR | c.1793_1795dup (p.Lys598_Thr599insLys) c.*1507_*1509dup (n.*1507_*1509dup) c.1610_1612dup (p.Lys537_Thr538insLys) c.*93_*95dup (n.*93_*95dup) c.*1617_*1619dup (n.*1617_*1619dup) c.1367_1369dup (p.Lys456_Thr457insLys) c.1402-10866_1402-10864dup (n.1402-10866_1402-10864dup) c.1703_1705dup (p.Lys568_Thr569insLys) c.1883_1885dup (p.Lys628_Thr629insLys) c.1550_1552dup (p.Lys517_Thr518insLys) | |
| 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.117591960A>C | CA368977876 | CFTR | c.1793A>C (p.Lys598Thr) c.*1507A>C (n.*1507A>C) c.1610A>C (p.Lys537Thr) c.*93A>C (n.*93A>C) c.*1617A>C (n.*1617A>C) c.1367A>C (p.Lys456Thr) c.1402-10866A>C (n.1402-10866A>C) c.1703A>C (p.Lys568Thr) c.1883A>C (p.Lys628Thr) c.1550A>C (p.Lys517Thr) | |
| 7 | g.117591960A>G | CA368977879 | CFTR | c.1793A>G (p.Lys598Arg) c.*1507A>G (n.*1507A>G) c.1610A>G (p.Lys537Arg) c.*93A>G (n.*93A>G) c.*1617A>G (n.*1617A>G) c.1367A>G (p.Lys456Arg) c.1402-10866A>G (n.1402-10866A>G) c.1703A>G (p.Lys568Arg) c.1883A>G (p.Lys628Arg) c.1550A>G (p.Lys517Arg) | |
| 7 | g.117591960A>T | CA368977882 | CFTR | c.1793A>T (p.Lys598Ile) c.*1507A>T (n.*1507A>T) c.1610A>T (p.Lys537Ile) c.*93A>T (n.*93A>T) c.*1617A>T (n.*1617A>T) c.1367A>T (p.Lys456Ile) c.1402-10866A>T (n.1402-10866A>T) c.1703A>T (p.Lys568Ile) c.1883A>T (p.Lys628Ile) c.1550A>T (p.Lys517Ile) | |
| 7 | g.117591961A>C | CA368977888 | CFTR | c.1794A>C (p.Lys598Asn) c.*1508A>C (n.*1508A>C) c.1611A>C (p.Lys537Asn) c.*94A>C (n.*94A>C) c.*1618A>C (n.*1618A>C) c.1368A>C (p.Lys456Asn) c.1402-10865A>C (n.1402-10865A>C) c.1704A>C (p.Lys568Asn) c.1884A>C (p.Lys628Asn) c.1551A>C (p.Lys517Asn) | |
| 7 | g.117591961A>G | CA457448819 | CFTR | c.1794A>G (p.Lys598=) c.*1508A>G (n.*1508A>G) c.1611A>G (p.Lys537=) c.*94A>G (n.*94A>G) c.*1618A>G (n.*1618A>G) c.1368A>G (p.Lys456=) c.1402-10865A>G (n.1402-10865A>G) c.1704A>G (p.Lys568=) c.1884A>G (p.Lys628=) c.1551A>G (p.Lys517=) | |
| 7 | g.117591961A>T | CA368977892 | CFTR | c.1794A>T (p.Lys598Asn) c.*1508A>T (n.*1508A>T) c.1611A>T (p.Lys537Asn) c.*94A>T (n.*94A>T) c.*1618A>T (n.*1618A>T) c.1368A>T (p.Lys456Asn) c.1402-10865A>T (n.1402-10865A>T) c.1704A>T (p.Lys568Asn) c.1884A>T (p.Lys628Asn) c.1551A>T (p.Lys517Asn) | |
| 7 | g.117591962A>C | CA368977897 | CFTR | c.1795A>C (p.Thr599Pro) c.*1509A>C (n.*1509A>C) c.1612A>C (p.Thr538Pro) c.*95A>C (n.*95A>C) c.*1619A>C (n.*1619A>C) c.1369A>C (p.Thr457Pro) c.1402-10864A>C (n.1402-10864A>C) c.1705A>C (p.Thr569Pro) c.1885A>C (p.Thr629Pro) c.1552A>C (p.Thr518Pro) | gnomAD v4 |
| 7 | g.117591962A>G | CA368977901 | CFTR | c.1795A>G (p.Thr599Ala) c.*1509A>G (n.*1509A>G) c.1612A>G (p.Thr538Ala) c.*95A>G (n.*95A>G) c.*1619A>G (n.*1619A>G) c.1369A>G (p.Thr457Ala) c.1402-10864A>G (n.1402-10864A>G) c.1705A>G (p.Thr569Ala) c.1885A>G (p.Thr629Ala) c.1552A>G (p.Thr518Ala) | |
| 7 | g.117591962A>T | CA368977904 | CFTR | c.1795A>T (p.Thr599Ser) c.*1509A>T (n.*1509A>T) c.1612A>T (p.Thr538Ser) c.*95A>T (n.*95A>T) c.*1619A>T (n.*1619A>T) c.1369A>T (p.Thr457Ser) c.1402-10864A>T (n.1402-10864A>T) c.1705A>T (p.Thr569Ser) c.1885A>T (p.Thr629Ser) c.1552A>T (p.Thr518Ser) | |
| 7 | g.117591963C>A | CA368977908 | CFTR | c.1796C>A (p.Thr599Asn) c.*1510C>A (n.*1510C>A) c.1613C>A (p.Thr538Asn) c.*96C>A (n.*96C>A) c.*1620C>A (n.*1620C>A) c.1370C>A (p.Thr457Asn) c.1402-10863C>A (n.1402-10863C>A) c.1706C>A (p.Thr569Asn) c.1886C>A (p.Thr629Asn) c.1553C>A (p.Thr518Asn) | |
| 7 | g.117591963C= | CA1737393845 | CFTR | c.1796C= (p.Thr599=) c.*1510C= (n.*1510C=) c.1613C= (p.Thr538=) c.*96C= (n.*96C=) c.*1620C= (n.*1620C=) c.1370C= (p.Thr457=) c.1402-10863C= (n.1402-10863C=) c.1706C= (p.Thr569=) c.1886C= (p.Thr629=) c.1553C= (p.Thr518=) | |
| 7 | g.117591963C>G | CA4451098 | CFTR | c.1796C>G (p.Thr599Ser) c.*1510C>G (n.*1510C>G) c.1613C>G (p.Thr538Ser) c.*96C>G (n.*96C>G) c.*1620C>G (n.*1620C>G) c.1370C>G (p.Thr457Ser) c.1402-10863C>G (n.1402-10863C>G) c.1706C>G (p.Thr569Ser) c.1886C>G (p.Thr629Ser) c.1553C>G (p.Thr518Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117591963C>T | CA368977912 | CFTR | c.1796C>T (p.Thr599Ile) c.*1510C>T (n.*1510C>T) c.1613C>T (p.Thr538Ile) c.*96C>T (n.*96C>T) c.*1620C>T (n.*1620C>T) c.1370C>T (p.Thr457Ile) c.1402-10863C>T (n.1402-10863C>T) c.1706C>T (p.Thr569Ile) c.1886C>T (p.Thr629Ile) c.1553C>T (p.Thr518Ile) | |
| 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=) |