| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 7 | g.117590411G>A | CA368977246 | CFTR | c.1738G>A (p.Val580Ile) c.*1452G>A (n.*1452G>A) c.1555G>A (p.Val519Ile) c.*38G>A (n.*38G>A) c.*1562G>A (n.*1562G>A) c.1312G>A (p.Val438Ile) c.1402-12415G>A (n.1402-12415G>A) c.1648G>A (p.Val550Ile) c.1828G>A (p.Val610Ile) c.1495G>A (p.Val499Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117590411G>C | CA368977247 | CFTR | c.1738G>C (p.Val580Leu) c.*1452G>C (n.*1452G>C) c.1555G>C (p.Val519Leu) c.*38G>C (n.*38G>C) c.*1562G>C (n.*1562G>C) c.1312G>C (p.Val438Leu) c.1402-12415G>C (n.1402-12415G>C) c.1648G>C (p.Val550Leu) c.1828G>C (p.Val610Leu) c.1495G>C (p.Val499Leu) | |
| 7 | g.117590411G= | CA1737392465 | CFTR | c.1738G= (p.Val580=) c.*1452G= (n.*1452G=) c.1555G= (p.Val519=) c.*38G= (n.*38G=) c.*1562G= (n.*1562G=) c.1312G= (p.Val438=) c.1402-12415G= (n.1402-12415G=) c.1648G= (p.Val550=) c.1828G= (p.Val610=) c.1495G= (p.Val499=) | |
| 7 | g.117590411G>T | CA368977248 | CFTR | c.1738G>T (p.Val580Phe) c.*1452G>T (n.*1452G>T) c.1555G>T (p.Val519Phe) c.*38G>T (n.*38G>T) c.*1562G>T (n.*1562G>T) c.1312G>T (p.Val438Phe) c.1402-12415G>T (n.1402-12415G>T) c.1648G>T (p.Val550Phe) c.1828G>T (p.Val610Phe) c.1495G>T (p.Val499Phe) | |
| 7 | g.117590412T>A | CA368977249 | CFTR | c.1739T>A (p.Val580Asp) c.*1453T>A (n.*1453T>A) c.1556T>A (p.Val519Asp) c.*39T>A (n.*39T>A) c.*1563T>A (n.*1563T>A) c.1313T>A (p.Val438Asp) c.1402-12414T>A (n.1402-12414T>A) c.1649T>A (p.Val550Asp) c.1829T>A (p.Val610Asp) c.1496T>A (p.Val499Asp) | |
| 7 | g.117590412T>C | CA368977250 | CFTR | c.1739T>C (p.Val580Ala) c.*1453T>C (n.*1453T>C) c.1556T>C (p.Val519Ala) c.*39T>C (n.*39T>C) c.*1563T>C (n.*1563T>C) c.1313T>C (p.Val438Ala) c.1402-12414T>C (n.1402-12414T>C) c.1649T>C (p.Val550Ala) c.1829T>C (p.Val610Ala) c.1496T>C (p.Val499Ala) | |
| 7 | g.117590412T>G | CA368977251 | CFTR | c.1739T>G (p.Val580Gly) c.*1453T>G (n.*1453T>G) c.1556T>G (p.Val519Gly) c.*39T>G (n.*39T>G) c.*1563T>G (n.*1563T>G) c.1313T>G (p.Val438Gly) c.1402-12414T>G (n.1402-12414T>G) c.1649T>G (p.Val550Gly) c.1829T>G (p.Val610Gly) c.1496T>G (p.Val499Gly) | |
| 7 | g.117590415dup | CA326646 | CFTR | c.1742dup (p.Leu581PhefsTer8) c.*1456dup (n.*1456dup) c.1559dup (p.Leu520PhefsTer8) c.*42dup (n.*42dup) c.*1566dup (n.*1566dup) c.1316dup (p.Leu439PhefsTer8) c.1402-12411dup (n.1402-12411dup) c.1652dup (p.Leu551PhefsTer8) c.1832dup (p.Leu611PhefsTer8) c.1499dup (p.Leu500PhefsTer8) | ClinVar dbSNP |
| 7 | g.117590413T>A | CA457227453 | CFTR | c.1740T>A (p.Val580=) c.*1454T>A (n.*1454T>A) c.1557T>A (p.Val519=) c.*40T>A (n.*40T>A) c.*1564T>A (n.*1564T>A) c.1314T>A (p.Val438=) c.1402-12413T>A (n.1402-12413T>A) c.1650T>A (p.Val550=) c.1830T>A (p.Val610=) c.1497T>A (p.Val499=) | |
| 7 | g.117590413T>C | CA457227455 | CFTR | c.1740T>C (p.Val580=) c.*1454T>C (n.*1454T>C) c.1557T>C (p.Val519=) c.*40T>C (n.*40T>C) c.*1564T>C (n.*1564T>C) c.1314T>C (p.Val438=) c.1402-12413T>C (n.1402-12413T>C) c.1650T>C (p.Val550=) c.1830T>C (p.Val610=) c.1497T>C (p.Val499=) | |
| 7 | g.117590413T>G | CA457227452 | CFTR | c.1740T>G (p.Val580=) c.*1454T>G (n.*1454T>G) c.1557T>G (p.Val519=) c.*40T>G (n.*40T>G) c.*1564T>G (n.*1564T>G) c.1314T>G (p.Val438=) c.1402-12413T>G (n.1402-12413T>G) c.1650T>G (p.Val550=) c.1830T>G (p.Val610=) c.1497T>G (p.Val499=) | |
| 7 | g.117590414T>A | CA368977252 | CFTR | c.1741T>A (p.Leu581Ile) c.*1455T>A (n.*1455T>A) c.1558T>A (p.Leu520Ile) c.*41T>A (n.*41T>A) c.*1565T>A (n.*1565T>A) c.1315T>A (p.Leu439Ile) c.1402-12412T>A (n.1402-12412T>A) c.1651T>A (p.Leu551Ile) c.1831T>A (p.Leu611Ile) c.1498T>A (p.Leu500Ile) | |
| 7 | g.117590414T>C | CA457227456 | CFTR | c.1741T>C (p.Leu581=) c.*1455T>C (n.*1455T>C) c.1558T>C (p.Leu520=) c.*41T>C (n.*41T>C) c.*1565T>C (n.*1565T>C) c.1315T>C (p.Leu439=) c.1402-12412T>C (n.1402-12412T>C) c.1651T>C (p.Leu551=) c.1831T>C (p.Leu611=) c.1498T>C (p.Leu500=) | |
| 7 | g.117590414T>G | CA368977253 | CFTR | c.1741T>G (p.Leu581Val) c.*1455T>G (n.*1455T>G) c.1558T>G (p.Leu520Val) c.*41T>G (n.*41T>G) c.*1565T>G (n.*1565T>G) c.1315T>G (p.Leu439Val) c.1402-12412T>G (n.1402-12412T>G) c.1651T>G (p.Leu551Val) c.1831T>G (p.Leu611Val) c.1498T>G (p.Leu500Val) | |
| 7 | g.117590415T>A | CA368977254 | CFTR | c.1742T>A (p.Leu581Ter) c.*1456T>A (n.*1456T>A) c.1559T>A (p.Leu520Ter) c.*42T>A (n.*42T>A) c.*1566T>A (n.*1566T>A) c.1316T>A (p.Leu439Ter) c.1402-12411T>A (n.1402-12411T>A) c.1652T>A (p.Leu551Ter) c.1832T>A (p.Leu611Ter) c.1499T>A (p.Leu500Ter) | |
| 7 | g.117590415T>C | CA368977255 | CFTR | c.1742T>C (p.Leu581Ser) c.*1456T>C (n.*1456T>C) c.1559T>C (p.Leu520Ser) c.*42T>C (n.*42T>C) c.*1566T>C (n.*1566T>C) c.1316T>C (p.Leu439Ser) c.1402-12411T>C (n.1402-12411T>C) c.1652T>C (p.Leu551Ser) c.1832T>C (p.Leu611Ser) c.1499T>C (p.Leu500Ser) | |
| 7 | g.117590415T>G | CA368977256 | CFTR | c.1742T>G (p.Leu581Ter) c.*1456T>G (n.*1456T>G) c.1559T>G (p.Leu520Ter) c.*42T>G (n.*42T>G) c.*1566T>G (n.*1566T>G) c.1316T>G (p.Leu439Ter) c.1402-12411T>G (n.1402-12411T>G) c.1652T>G (p.Leu551Ter) c.1832T>G (p.Leu611Ter) c.1499T>G (p.Leu500Ter) | |
| 7 | g.117590416A>C | CA368977258 | CFTR | c.1743A>C (p.Leu581Phe) c.*1457A>C (n.*1457A>C) c.1560A>C (p.Leu520Phe) c.*43A>C (n.*43A>C) c.*1567A>C (n.*1567A>C) c.1317A>C (p.Leu439Phe) c.1402-12410A>C (n.1402-12410A>C) c.1653A>C (p.Leu551Phe) c.1833A>C (p.Leu611Phe) c.1500A>C (p.Leu500Phe) | |
| 7 | g.117590416A>G | CA457227460 | CFTR | c.1743A>G (p.Leu581=) c.*1457A>G (n.*1457A>G) c.1560A>G (p.Leu520=) c.*43A>G (n.*43A>G) c.*1567A>G (n.*1567A>G) c.1317A>G (p.Leu439=) c.1402-12410A>G (n.1402-12410A>G) c.1653A>G (p.Leu551=) c.1833A>G (p.Leu611=) c.1500A>G (p.Leu500=) | |
| 7 | g.117590416A>T | CA368977257 | CFTR | c.1743A>T (p.Leu581Phe) c.*1457A>T (n.*1457A>T) c.1560A>T (p.Leu520Phe) c.*43A>T (n.*43A>T) c.*1567A>T (n.*1567A>T) c.1317A>T (p.Leu439Phe) c.1402-12410A>T (n.1402-12410A>T) c.1653A>T (p.Leu551Phe) c.1833A>T (p.Leu611Phe) c.1500A>T (p.Leu500Phe) | ClinVar |
| 7 | g.117590417A= | CA1737392474 | CFTR | c.1744A= (p.Thr582=) c.*1458A= (n.*1458A=) c.1561A= (p.Thr521=) c.*44A= (n.*44A=) c.*1568A= (n.*1568A=) c.1318A= (p.Thr440=) c.1402-12409A= (n.1402-12409A=) c.1654A= (p.Thr552=) c.1834A= (p.Thr612=) c.1501A= (p.Thr501=) | |
| 7 | g.117590417A>C | CA368977259 | CFTR | c.1744A>C (p.Thr582Pro) c.*1458A>C (n.*1458A>C) c.1561A>C (p.Thr521Pro) c.*44A>C (n.*44A>C) c.*1568A>C (n.*1568A>C) c.1318A>C (p.Thr440Pro) c.1402-12409A>C (n.1402-12409A>C) c.1654A>C (p.Thr552Pro) c.1834A>C (p.Thr612Pro) c.1501A>C (p.Thr501Pro) | |
| 7 | g.117590417A>G | CA368977260 | CFTR | c.1744A>G (p.Thr582Ala) c.*1458A>G (n.*1458A>G) c.1561A>G (p.Thr521Ala) c.*44A>G (n.*44A>G) c.*1568A>G (n.*1568A>G) c.1318A>G (p.Thr440Ala) c.1402-12409A>G (n.1402-12409A>G) c.1654A>G (p.Thr552Ala) c.1834A>G (p.Thr612Ala) c.1501A>G (p.Thr501Ala) | |
| 7 | g.117590417A>T | CA326649 | CFTR | c.1744A>T (p.Thr582Ser) c.*1458A>T (n.*1458A>T) c.1561A>T (p.Thr521Ser) c.*44A>T (n.*44A>T) c.*1568A>T (n.*1568A>T) c.1318A>T (p.Thr440Ser) c.1402-12409A>T (n.1402-12409A>T) c.1654A>T (p.Thr552Ser) c.1834A>T (p.Thr612Ser) c.1501A>T (p.Thr501Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590418C>A | CA368977261 | CFTR | c.1745C>A (p.Thr582Lys) c.*1459C>A (n.*1459C>A) c.1562C>A (p.Thr521Lys) c.*45C>A (n.*45C>A) c.*1569C>A (n.*1569C>A) c.1319C>A (p.Thr440Lys) c.1402-12408C>A (n.1402-12408C>A) c.1655C>A (p.Thr552Lys) c.1835C>A (p.Thr612Lys) c.1502C>A (p.Thr501Lys) | |
| 7 | g.117590418C= | CA1737392483 | CFTR | c.1745C= (p.Thr582=) c.*1459C= (n.*1459C=) c.1562C= (p.Thr521=) c.*45C= (n.*45C=) c.*1569C= (n.*1569C=) c.1319C= (p.Thr440=) c.1402-12408C= (n.1402-12408C=) c.1655C= (p.Thr552=) c.1835C= (p.Thr612=) c.1502C= (p.Thr501=) | |
| 7 | g.117590418C>G | CA326651 | CFTR | c.1745C>G (p.Thr582Arg) c.*1459C>G (n.*1459C>G) c.1562C>G (p.Thr521Arg) c.*45C>G (n.*45C>G) c.*1569C>G (n.*1569C>G) c.1319C>G (p.Thr440Arg) c.1402-12408C>G (n.1402-12408C>G) c.1655C>G (p.Thr552Arg) c.1835C>G (p.Thr612Arg) c.1502C>G (p.Thr501Arg) | ClinVar dbSNP |
| 7 | g.117590418C>T | CA326653 | CFTR | c.1745C>T (p.Thr582Ile) c.*1459C>T (n.*1459C>T) c.1562C>T (p.Thr521Ile) c.*45C>T (n.*45C>T) c.*1569C>T (n.*1569C>T) c.1319C>T (p.Thr440Ile) c.1402-12408C>T (n.1402-12408C>T) c.1655C>T (p.Thr552Ile) c.1835C>T (p.Thr612Ile) c.1502C>T (p.Thr501Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590418_117590419delinsCA | CA1737392489 | CFTR | c.1745_1746delinsCA (p.Thr582=) c.*1459_*1460delinsCA (n.*1459_*1460delinsCA) c.1562_1563delinsCA (p.Thr521=) c.*45_*46delinsCA (n.*45_*46delinsCA) c.*1569_*1570delinsCA (n.*1569_*1570delinsCA) c.1319_1320delinsCA (p.Thr440=) c.1402-12408_1402-12407delinsCA (n.1402-12408_1402-12407delinsCA) c.1655_1656delinsCA (p.Thr552=) c.1835_1836delinsCA (p.Thr612=) c.1502_1503delinsCA (p.Thr501=) | |
| 7 | g.117590419del | CA1737392493 | CFTR | c.1746del (p.Glu583LysfsTer12) c.*1460del (n.*1460del) c.1563del (p.Glu522LysfsTer12) c.*46del (n.*46del) c.*1570del (n.*1570del) c.1320del (p.Glu441LysfsTer12) c.1402-12407del (n.1402-12407del) c.1656del (p.Glu553LysfsTer12) c.1836del (p.Glu613LysfsTer12) c.1503del (p.Glu502LysfsTer12) | dbSNP |
| 7 | g.117590419A= | CA1737392496 | CFTR | c.1746A= (p.Thr582=) c.*1460A= (n.*1460A=) c.1563A= (p.Thr521=) c.*46A= (n.*46A=) c.*1570A= (n.*1570A=) c.1320A= (p.Thr440=) c.1402-12407A= (n.1402-12407A=) c.1656A= (p.Thr552=) c.1836A= (p.Thr612=) c.1503A= (p.Thr501=) | |
| 7 | g.117590419A>C | CA4451074 | CFTR | c.1746A>C (p.Thr582=) c.*1460A>C (n.*1460A>C) c.1563A>C (p.Thr521=) c.*46A>C (n.*46A>C) c.*1570A>C (n.*1570A>C) c.1320A>C (p.Thr440=) c.1402-12407A>C (n.1402-12407A>C) c.1656A>C (p.Thr552=) c.1836A>C (p.Thr612=) c.1503A>C (p.Thr501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590419A>G | CA457227464 | CFTR | c.1746A>G (p.Thr582=) c.*1460A>G (n.*1460A>G) c.1563A>G (p.Thr521=) c.*46A>G (n.*46A>G) c.*1570A>G (n.*1570A>G) c.1320A>G (p.Thr440=) c.1402-12407A>G (n.1402-12407A>G) c.1656A>G (p.Thr552=) c.1836A>G (p.Thr612=) c.1503A>G (p.Thr501=) | ClinVar |