| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590400G>A | CA368977222 | CFTR | c.1727G>A (p.Gly576Glu) c.*1441G>A (n.*1441G>A) c.1544G>A (p.Gly515Glu) c.*27G>A (n.*27G>A) c.*1551G>A (n.*1551G>A) c.1301G>A (p.Gly434Glu) c.1402-12426G>A (n.1402-12426G>A) c.1637G>A (p.Gly546Glu) c.1817G>A (p.Gly606Glu) c.1484G>A (p.Gly495Glu) | |
| 7 | g.117590400G>C | CA182838 | CFTR | c.1727G>C (p.Gly576Ala) c.*1441G>C (n.*1441G>C) c.1544G>C (p.Gly515Ala) c.*27G>C (n.*27G>C) c.*1551G>C (n.*1551G>C) c.1301G>C (p.Gly434Ala) c.1402-12426G>C (n.1402-12426G>C) c.1637G>C (p.Gly546Ala) c.1817G>C (p.Gly606Ala) c.1484G>C (p.Gly495Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.[117590400G>C;117592169C>T] | CA1139767766 | CFTR | c.[1727G>C;2002C>T] (p.[Gly576Ala;Arg668Cys]) c.[*1441G>C;*1716C>T] (n.[*1441G>C;*1716C>T]) c.[1544G>C;1819C>T] (p.[Gly515Ala;Arg607Cys]) c.[*27G>C;*302C>T] (n.[*27G>C;*302C>T]) c.[*1551G>C;*1826C>T] (n.[*1551G>C;*1826C>T]) c.[1301G>C;1576C>T] (p.[Gly434Ala;Arg526Cys]) c.[1402-12426G>C;1402-10657C>T] (n.[1402-12426G>C;1402-10657C>T]) c.[1637G>C;1912C>T] (p.[Gly546Ala;Arg638Cys]) c.[1817G>C;2092C>T] (p.[Gly606Ala;Arg698Cys]) c.[1484G>C;1759C>T] (p.[Gly495Ala;Arg587Cys]) | ClinVar |
| 7 | g.117590400G= | CA1737392397 | CFTR | c.1727G= (p.Gly576=) c.*1441G= (n.*1441G=) c.1544G= (p.Gly515=) c.*27G= (n.*27G=) c.*1551G= (n.*1551G=) c.1301G= (p.Gly434=) c.1402-12426G= (n.1402-12426G=) c.1637G= (p.Gly546=) c.1817G= (p.Gly606=) c.1484G= (p.Gly495=) | |
| 7 | g.117590400G>T | CA4451073 | CFTR | c.1727G>T (p.Gly576Val) c.*1441G>T (n.*1441G>T) c.1544G>T (p.Gly515Val) c.*27G>T (n.*27G>T) c.*1551G>T (n.*1551G>T) c.1301G>T (p.Gly434Val) c.1402-12426G>T (n.1402-12426G>T) c.1637G>T (p.Gly546Val) c.1817G>T (p.Gly606Val) c.1484G>T (p.Gly495Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590401A>C | CA457227439 | CFTR | c.1728A>C (p.Gly576=) c.*1442A>C (n.*1442A>C) c.1545A>C (p.Gly515=) c.*28A>C (n.*28A>C) c.*1552A>C (n.*1552A>C) c.1302A>C (p.Gly434=) c.1402-12425A>C (n.1402-12425A>C) c.1638A>C (p.Gly546=) c.1818A>C (p.Gly606=) c.1485A>C (p.Gly495=) | |
| 7 | g.117590401A>G | CA457227438 | CFTR | c.1728A>G (p.Gly576=) c.*1442A>G (n.*1442A>G) c.1545A>G (p.Gly515=) c.*28A>G (n.*28A>G) c.*1552A>G (n.*1552A>G) c.1302A>G (p.Gly434=) c.1402-12425A>G (n.1402-12425A>G) c.1638A>G (p.Gly546=) c.1818A>G (p.Gly606=) c.1485A>G (p.Gly495=) | gnomAD v4 |
| 7 | g.117590401A>T | CA457227437 | CFTR | c.1728A>T (p.Gly576=) c.*1442A>T (n.*1442A>T) c.1545A>T (p.Gly515=) c.*28A>T (n.*28A>T) c.*1552A>T (n.*1552A>T) c.1302A>T (p.Gly434=) c.1402-12425A>T (n.1402-12425A>T) c.1638A>T (p.Gly546=) c.1818A>T (p.Gly606=) c.1485A>T (p.Gly495=) | |
| 7 | g.117590402T>A | CA368977224 | CFTR | c.1729T>A (p.Tyr577Asn) c.*1443T>A (n.*1443T>A) c.1546T>A (p.Tyr516Asn) c.*29T>A (n.*29T>A) c.*1553T>A (n.*1553T>A) c.1303T>A (p.Tyr435Asn) c.1402-12424T>A (n.1402-12424T>A) c.1639T>A (p.Tyr547Asn) c.1819T>A (p.Tyr607Asn) c.1486T>A (p.Tyr496Asn) | |
| 7 | g.117590402T>C | CA368977226 | CFTR | c.1729T>C (p.Tyr577His) c.*1443T>C (n.*1443T>C) c.1546T>C (p.Tyr516His) c.*29T>C (n.*29T>C) c.*1553T>C (n.*1553T>C) c.1303T>C (p.Tyr435His) c.1402-12424T>C (n.1402-12424T>C) c.1639T>C (p.Tyr547His) c.1819T>C (p.Tyr607His) c.1486T>C (p.Tyr496His) | |
| 7 | g.117590402T>G | CA368977228 | CFTR | c.1729T>G (p.Tyr577Asp) c.*1443T>G (n.*1443T>G) c.1546T>G (p.Tyr516Asp) c.*29T>G (n.*29T>G) c.*1553T>G (n.*1553T>G) c.1303T>G (p.Tyr435Asp) c.1402-12424T>G (n.1402-12424T>G) c.1639T>G (p.Tyr547Asp) c.1819T>G (p.Tyr607Asp) c.1486T>G (p.Tyr496Asp) | |
| 7 | g.117590403A= | CA1737392404 | CFTR | c.1730A= (p.Tyr577=) c.*1444A= (n.*1444A=) c.1547A= (p.Tyr516=) c.*30A= (n.*30A=) c.*1554A= (n.*1554A=) c.1304A= (p.Tyr435=) c.1402-12423A= (n.1402-12423A=) c.1640A= (p.Tyr547=) c.1820A= (p.Tyr607=) c.1487A= (p.Tyr496=) | |
| 7 | g.117590403A>C | CA368977230 | CFTR | c.1730A>C (p.Tyr577Ser) c.*1444A>C (n.*1444A>C) c.1547A>C (p.Tyr516Ser) c.*30A>C (n.*30A>C) c.*1554A>C (n.*1554A>C) c.1304A>C (p.Tyr435Ser) c.1402-12423A>C (n.1402-12423A>C) c.1640A>C (p.Tyr547Ser) c.1820A>C (p.Tyr607Ser) c.1487A>C (p.Tyr496Ser) | |
| 7 | g.117590403A>G | CA368977231 | CFTR | c.1730A>G (p.Tyr577Cys) c.*1444A>G (n.*1444A>G) c.1547A>G (p.Tyr516Cys) c.*30A>G (n.*30A>G) c.*1554A>G (n.*1554A>G) c.1304A>G (p.Tyr435Cys) c.1402-12423A>G (n.1402-12423A>G) c.1640A>G (p.Tyr547Cys) c.1820A>G (p.Tyr607Cys) c.1487A>G (p.Tyr496Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117590403A>T | CA326638 | CFTR | c.1730A>T (p.Tyr577Phe) c.*1444A>T (n.*1444A>T) c.1547A>T (p.Tyr516Phe) c.*30A>T (n.*30A>T) c.*1554A>T (n.*1554A>T) c.1304A>T (p.Tyr435Phe) c.1402-12423A>T (n.1402-12423A>T) c.1640A>T (p.Tyr547Phe) c.1820A>T (p.Tyr607Phe) c.1487A>T (p.Tyr496Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590403_117590411delinsTCCTAGATGT | CA2695208334 | CFTR | c.1730_1738delinsTCCTAGATGT (p.Tyr577PhefsTer12) c.*1444_*1452delinsTCCTAGATGT (n.*1444_*1452delinsTCCTAGATGT) c.1547_1555delinsTCCTAGATGT (p.Tyr516PhefsTer12) c.*30_*38delinsTCCTAGATGT (n.*30_*38delinsTCCTAGATGT) c.*1554_*1562delinsTCCTAGATGT (n.*1554_*1562delinsTCCTAGATGT) c.1304_1312delinsTCCTAGATGT (p.Tyr435PhefsTer12) c.1402-12423_1402-12415delinsTCCTAGATGT (n.1402-12423_1402-12415delinsTCCTAGATGT) c.1640_1648delinsTCCTAGATGT (p.Tyr547PhefsTer12) c.1820_1828delinsTCCTAGATGT (p.Tyr607PhefsTer12) c.1487_1495delinsTCCTAGATGT (p.Tyr496PhefsTer12) | |
| 7 | g.117590404C>A | CA368977234 | CFTR | c.1731C>A (p.Tyr577Ter) c.*1445C>A (n.*1445C>A) c.1548C>A (p.Tyr516Ter) c.*31C>A (n.*31C>A) c.*1555C>A (n.*1555C>A) c.1305C>A (p.Tyr435Ter) c.1402-12422C>A (n.1402-12422C>A) c.1641C>A (p.Tyr547Ter) c.1821C>A (p.Tyr607Ter) c.1488C>A (p.Tyr496Ter) | ClinVar dbSNP |
| 7 | g.117590404C= | CA1737392413 | CFTR | c.1731C= (p.Tyr577=) c.*1445C= (n.*1445C=) c.1548C= (p.Tyr516=) c.*31C= (n.*31C=) c.*1555C= (n.*1555C=) c.1305C= (p.Tyr435=) c.1402-12422C= (n.1402-12422C=) c.1641C= (p.Tyr547=) c.1821C= (p.Tyr607=) c.1488C= (p.Tyr496=) | |
| 7 | g.117590404C>G | CA368977237 | CFTR | c.1731C>G (p.Tyr577Ter) c.*1445C>G (n.*1445C>G) c.1548C>G (p.Tyr516Ter) c.*31C>G (n.*31C>G) c.*1555C>G (n.*1555C>G) c.1305C>G (p.Tyr435Ter) c.1402-12422C>G (n.1402-12422C>G) c.1641C>G (p.Tyr547Ter) c.1821C>G (p.Tyr607Ter) c.1488C>G (p.Tyr496Ter) | |
| 7 | g.117590404C>T | CA325696 | CFTR | c.1731C>T (p.Tyr577=) c.*1445C>T (n.*1445C>T) c.1548C>T (p.Tyr516=) c.*31C>T (n.*31C>T) c.*1555C>T (n.*1555C>T) c.1305C>T (p.Tyr435=) c.1402-12422C>T (n.1402-12422C>T) c.1641C>T (p.Tyr547=) c.1821C>T (p.Tyr607=) c.1488C>T (p.Tyr496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590405C>A | CA368977238 | CFTR | c.1732C>A (p.Leu578Ile) c.*1446C>A (n.*1446C>A) c.1549C>A (p.Leu517Ile) c.*32C>A (n.*32C>A) c.*1556C>A (n.*1556C>A) c.1306C>A (p.Leu436Ile) c.1402-12421C>A (n.1402-12421C>A) c.1642C>A (p.Leu548Ile) c.1822C>A (p.Leu608Ile) c.1489C>A (p.Leu497Ile) | |
| 7 | g.117590405C= | CA1737392422 | CFTR | c.1732C= (p.Leu578=) c.*1446C= (n.*1446C=) c.1549C= (p.Leu517=) c.*32C= (n.*32C=) c.*1556C= (n.*1556C=) c.1306C= (p.Leu436=) c.1402-12421C= (n.1402-12421C=) c.1642C= (p.Leu548=) c.1822C= (p.Leu608=) c.1489C= (p.Leu497=) | |
| 7 | g.117590405C>G | CA164946410 | CFTR | c.1732C>G (p.Leu578Val) c.*1446C>G (n.*1446C>G) c.1549C>G (p.Leu517Val) c.*32C>G (n.*32C>G) c.*1556C>G (n.*1556C>G) c.1306C>G (p.Leu436Val) c.1402-12421C>G (n.1402-12421C>G) c.1642C>G (p.Leu548Val) c.1822C>G (p.Leu608Val) c.1489C>G (p.Leu497Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117590405C>T | CA457227441 | CFTR | c.1732C>T (p.Leu578=) c.*1446C>T (n.*1446C>T) c.1549C>T (p.Leu517=) c.*32C>T (n.*32C>T) c.*1556C>T (n.*1556C>T) c.1306C>T (p.Leu436=) c.1402-12421C>T (n.1402-12421C>T) c.1642C>T (p.Leu548=) c.1822C>T (p.Leu608=) c.1489C>T (p.Leu497=) | ClinVar dbSNP |
| 7 | g.117590405_117590407delinsCTA | CA1737392425 | CFTR | c.1732_1734delinsCTA (p.Leu578=) c.*1446_*1448delinsCTA (n.*1446_*1448delinsCTA) c.1549_1551delinsCTA (p.Leu517=) c.*32_*34delinsCTA (n.*32_*34delinsCTA) c.*1556_*1558delinsCTA (n.*1556_*1558delinsCTA) c.1306_1308delinsCTA (p.Leu436=) c.1402-12421_1402-12419delinsCTA (n.1402-12421_1402-12419delinsCTA) c.1642_1644delinsCTA (p.Leu548=) c.1822_1824delinsCTA (p.Leu608=) c.1489_1491delinsCTA (p.Leu497=) | |
| 7 | g.117590406T>A | CA368977239 | CFTR | c.1733T>A (p.Leu578Gln) c.*1447T>A (n.*1447T>A) c.1550T>A (p.Leu517Gln) c.*33T>A (n.*33T>A) c.*1557T>A (n.*1557T>A) c.1307T>A (p.Leu436Gln) c.1402-12420T>A (n.1402-12420T>A) c.1643T>A (p.Leu548Gln) c.1823T>A (p.Leu608Gln) c.1490T>A (p.Leu497Gln) | |
| 7 | g.117590406T>C | CA164946422 | CFTR | c.1733T>C (p.Leu578Pro) c.*1447T>C (n.*1447T>C) c.1550T>C (p.Leu517Pro) c.*33T>C (n.*33T>C) c.*1557T>C (n.*1557T>C) c.1307T>C (p.Leu436Pro) c.1402-12420T>C (n.1402-12420T>C) c.1643T>C (p.Leu548Pro) c.1823T>C (p.Leu608Pro) c.1490T>C (p.Leu497Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117590406T>G | CA368977240 | CFTR | c.1733T>G (p.Leu578Arg) c.*1447T>G (n.*1447T>G) c.1550T>G (p.Leu517Arg) c.*33T>G (n.*33T>G) c.*1557T>G (n.*1557T>G) c.1307T>G (p.Leu436Arg) c.1402-12420T>G (n.1402-12420T>G) c.1643T>G (p.Leu548Arg) c.1823T>G (p.Leu608Arg) c.1490T>G (p.Leu497Arg) | |
| 7 | g.117590406T= | CA1737392429 | CFTR | c.1733T= (p.Leu578=) c.*1447T= (n.*1447T=) c.1550T= (p.Leu517=) c.*33T= (n.*33T=) c.*1557T= (n.*1557T=) c.1307T= (p.Leu436=) c.1402-12420T= (n.1402-12420T=) c.1643T= (p.Leu548=) c.1823T= (p.Leu608=) c.1490T= (p.Leu497=) | |
| 7 | g.117590406_117590407del | CA913190193 | CFTR | c.1733_1734del (p.Leu578ArgfsTer10) c.*1447_*1448del (n.*1447_*1448del) c.1550_1551del (p.Leu517ArgfsTer10) c.*33_*34del (n.*33_*34del) c.*1557_*1558del (n.*1557_*1558del) c.1307_1308del (p.Leu436ArgfsTer10) c.1402-12420_1402-12419del (n.1402-12420_1402-12419del) c.1643_1644del (p.Leu548ArgfsTer10) c.1823_1824del (p.Leu608ArgfsTer10) c.1490_1491del (p.Leu497ArgfsTer10) | ClinVar dbSNP |
| 7 | g.117590407A= | CA1737392436 | CFTR | c.1734A= (p.Leu578=) c.*1448A= (n.*1448A=) c.1551A= (p.Leu517=) c.*34A= (n.*34A=) c.*1558A= (n.*1558A=) c.1308A= (p.Leu436=) c.1402-12419A= (n.1402-12419A=) c.1644A= (p.Leu548=) c.1824A= (p.Leu608=) c.1491A= (p.Leu497=) | |
| 7 | g.117590407A>C | CA457227444 | CFTR | c.1734A>C (p.Leu578=) c.*1448A>C (n.*1448A>C) c.1551A>C (p.Leu517=) c.*34A>C (n.*34A>C) c.*1558A>C (n.*1558A>C) c.1308A>C (p.Leu436=) c.1402-12419A>C (n.1402-12419A>C) c.1644A>C (p.Leu548=) c.1824A>C (p.Leu608=) c.1491A>C (p.Leu497=) | |
| 7 | g.117590407A>G | CA16612171 | CFTR | c.1734A>G (p.Leu578=) c.*1448A>G (n.*1448A>G) c.1551A>G (p.Leu517=) c.*34A>G (n.*34A>G) c.*1558A>G (n.*1558A>G) c.1308A>G (p.Leu436=) c.1402-12419A>G (n.1402-12419A>G) c.1644A>G (p.Leu548=) c.1824A>G (p.Leu608=) c.1491A>G (p.Leu497=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590407A>T | CA457227445 | CFTR | c.1734A>T (p.Leu578=) c.*1448A>T (n.*1448A>T) c.1551A>T (p.Leu517=) c.*34A>T (n.*34A>T) c.*1558A>T (n.*1558A>T) c.1308A>T (p.Leu436=) c.1402-12419A>T (n.1402-12419A>T) c.1644A>T (p.Leu548=) c.1824A>T (p.Leu608=) c.1491A>T (p.Leu497=) | |
| 7 | g.117590408_117590409del | CA2580076476 | CFTR | c.1735_1736del (p.Asp579CysfsTer9) c.*1449_*1450del (n.*1449_*1450del) c.1552_1553del (p.Asp518CysfsTer9) c.*35_*36del (n.*35_*36del) c.*1559_*1560del (n.*1559_*1560del) c.1309_1310del (p.Asp437CysfsTer9) c.1402-12418_1402-12417del (n.1402-12418_1402-12417del) c.1645_1646del (p.Asp549CysfsTer9) c.1825_1826del (p.Asp609CysfsTer9) c.1492_1493del (p.Asp498CysfsTer9) | ClinVar |
| 7 | g.117590408G>A | CA368977241 | CFTR | c.1735G>A (p.Asp579Asn) c.*1449G>A (n.*1449G>A) c.1552G>A (p.Asp518Asn) c.*35G>A (n.*35G>A) c.*1559G>A (n.*1559G>A) c.1309G>A (p.Asp437Asn) c.1402-12418G>A (n.1402-12418G>A) c.1645G>A (p.Asp549Asn) c.1825G>A (p.Asp609Asn) c.1492G>A (p.Asp498Asn) | ClinVar |
| 7 | g.117590408G>C | CA368977242 | CFTR | c.1735G>C (p.Asp579His) c.*1449G>C (n.*1449G>C) c.1552G>C (p.Asp518His) c.*35G>C (n.*35G>C) c.*1559G>C (n.*1559G>C) c.1309G>C (p.Asp437His) c.1402-12418G>C (n.1402-12418G>C) c.1645G>C (p.Asp549His) c.1825G>C (p.Asp609His) c.1492G>C (p.Asp498His) | ClinVar |
| 7 | g.117590408G= | CA1737392442 | CFTR | c.1735G= (p.Asp579=) c.*1449G= (n.*1449G=) c.1552G= (p.Asp518=) c.*35G= (n.*35G=) c.*1559G= (n.*1559G=) c.1309G= (p.Asp437=) c.1402-12418G= (n.1402-12418G=) c.1645G= (p.Asp549=) c.1825G= (p.Asp609=) c.1492G= (p.Asp498=) | |
| 7 | g.117590408G>T | CA326640 | CFTR | c.1735G>T (p.Asp579Tyr) c.*1449G>T (n.*1449G>T) c.1552G>T (p.Asp518Tyr) c.*35G>T (n.*35G>T) c.*1559G>T (n.*1559G>T) c.1309G>T (p.Asp437Tyr) c.1402-12418G>T (n.1402-12418G>T) c.1645G>T (p.Asp549Tyr) c.1825G>T (p.Asp609Tyr) c.1492G>T (p.Asp498Tyr) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117590408_117590409insC | CA164946441 | CFTR | c.1735_1736insC (p.Asp579AlafsTer10) c.*1449_*1450insC (n.*1449_*1450insC) c.1552_1553insC (p.Asp518AlafsTer10) c.*35_*36insC (n.*35_*36insC) c.*1559_*1560insC (n.*1559_*1560insC) c.1309_1310insC (p.Asp437AlafsTer10) c.1402-12418_1402-12417insC (n.1402-12418_1402-12417insC) c.1645_1646insC (p.Asp549AlafsTer10) c.1825_1826insC (p.Asp609AlafsTer10) c.1492_1493insC (p.Asp498AlafsTer10) | dbSNP |
| 7 | g.117590409A= | CA1737392451 | CFTR | c.1736A= (p.Asp579=) c.*1450A= (n.*1450A=) c.1553A= (p.Asp518=) c.*36A= (n.*36A=) c.*1560A= (n.*1560A=) c.1310A= (p.Asp437=) c.1402-12417A= (n.1402-12417A=) c.1646A= (p.Asp549=) c.1826A= (p.Asp609=) c.1493A= (p.Asp498=) | |
| 7 | g.117590409A>C | CA326642 | CFTR | c.1736A>C (p.Asp579Ala) c.*1450A>C (n.*1450A>C) c.1553A>C (p.Asp518Ala) c.*36A>C (n.*36A>C) c.*1560A>C (n.*1560A>C) c.1310A>C (p.Asp437Ala) c.1402-12417A>C (n.1402-12417A>C) c.1646A>C (p.Asp549Ala) c.1826A>C (p.Asp609Ala) c.1493A>C (p.Asp498Ala) | dbSNP |
| 7 | g.117590409A>G | CA326644 | CFTR | c.1736A>G (p.Asp579Gly) c.*1450A>G (n.*1450A>G) c.1553A>G (p.Asp518Gly) c.*36A>G (n.*36A>G) c.*1560A>G (n.*1560A>G) c.1310A>G (p.Asp437Gly) c.1402-12417A>G (n.1402-12417A>G) c.1646A>G (p.Asp549Gly) c.1826A>G (p.Asp609Gly) c.1493A>G (p.Asp498Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117590409A>T | CA368977243 | CFTR | c.1736A>T (p.Asp579Val) c.*1450A>T (n.*1450A>T) c.1553A>T (p.Asp518Val) c.*36A>T (n.*36A>T) c.*1560A>T (n.*1560A>T) c.1310A>T (p.Asp437Val) c.1402-12417A>T (n.1402-12417A>T) c.1646A>T (p.Asp549Val) c.1826A>T (p.Asp609Val) c.1493A>T (p.Asp498Val) | |
| 7 | g.117590410T>A | CA368977244 | CFTR | c.1737T>A (p.Asp579Glu) c.*1451T>A (n.*1451T>A) c.1554T>A (p.Asp518Glu) c.*37T>A (n.*37T>A) c.*1561T>A (n.*1561T>A) c.1311T>A (p.Asp437Glu) c.1402-12416T>A (n.1402-12416T>A) c.1647T>A (p.Asp549Glu) c.1827T>A (p.Asp609Glu) c.1494T>A (p.Asp498Glu) | |
| 7 | g.117590410T>C | CA457227448 | CFTR | c.1737T>C (p.Asp579=) c.*1451T>C (n.*1451T>C) c.1554T>C (p.Asp518=) c.*37T>C (n.*37T>C) c.*1561T>C (n.*1561T>C) c.1311T>C (p.Asp437=) c.1402-12416T>C (n.1402-12416T>C) c.1647T>C (p.Asp549=) c.1827T>C (p.Asp609=) c.1494T>C (p.Asp498=) | ClinVar dbSNP |
| 7 | g.117590410T>G | CA368977245 | CFTR | c.1737T>G (p.Asp579Glu) c.*1451T>G (n.*1451T>G) c.1554T>G (p.Asp518Glu) c.*37T>G (n.*37T>G) c.*1561T>G (n.*1561T>G) c.1311T>G (p.Asp437Glu) c.1402-12416T>G (n.1402-12416T>G) c.1647T>G (p.Asp549Glu) c.1827T>G (p.Asp609Glu) c.1494T>G (p.Asp498Glu) | |
| 7 | g.117590410T= | CA1737392456 | CFTR | c.1737T= (p.Asp579=) c.*1451T= (n.*1451T=) c.1554T= (p.Asp518=) c.*37T= (n.*37T=) c.*1561T= (n.*1561T=) c.1311T= (p.Asp437=) c.1402-12416T= (n.1402-12416T=) c.1647T= (p.Asp549=) c.1827T= (p.Asp609=) c.1494T= (p.Asp498=) | |
| 7 | g.117590410_117590411delinsTG | CA1737392455 | CFTR | c.1737_1738delinsTG (p.Asp579=) c.*1451_*1452delinsTG (n.*1451_*1452delinsTG) c.1554_1555delinsTG (p.Asp518=) c.*37_*38delinsTG (n.*37_*38delinsTG) c.*1561_*1562delinsTG (n.*1561_*1562delinsTG) c.1311_1312delinsTG (p.Asp437=) c.1402-12416_1402-12415delinsTG (n.1402-12416_1402-12415delinsTG) c.1647_1648delinsTG (p.Asp549=) c.1827_1828delinsTG (p.Asp609=) c.1494_1495delinsTG (p.Asp498=) | |
| 7 | g.117590411del | CA326645 | CFTR | c.1738del (p.Val580PhefsTer2) c.*1452del (n.*1452del) c.1555del (p.Val519PhefsTer2) c.*38del (n.*38del) c.*1562del (n.*1562del) c.1312del (p.Val438PhefsTer2) c.1402-12415del (n.1402-12415del) c.1648del (p.Val550PhefsTer2) c.1828del (p.Val610PhefsTer2) c.1495del (p.Val499PhefsTer2) | ClinVar dbSNP |