| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117590373_117590374delinsAT | CA1737392287 | CFTR | c.1700_1701delinsAT (p.Asp567=) c.*1414_*1415delinsAT (n.*1414_*1415delinsAT) c.1517_1518delinsAT (p.Asp506=) c.1695_*1delinsAT (n.[c.1695_*1delinsAT;Ter565=]) c.*1524_*1525delinsAT (n.*1524_*1525delinsAT) c.1274_1275delinsAT (p.Asp425=) c.1402-12453_1402-12452delinsAT (n.1402-12453_1402-12452delinsAT) c.1610_1611delinsAT (p.Asp537=) c.1790_1791delinsAT (p.Asp597=) c.1457_1458delinsAT (p.Asp486=) | |
| 7 | g.117590374T>A | CA368977093 | CFTR | c.1701T>A (p.Asp567Glu) c.*1415T>A (n.*1415T>A) c.1518T>A (p.Asp506Glu) c.*1T>A (n.*1T>A) c.*1525T>A (n.*1525T>A) c.1275T>A (p.Asp425Glu) c.1402-12452T>A (n.1402-12452T>A) c.1611T>A (p.Asp537Glu) c.1791T>A (p.Asp597Glu) c.1458T>A (p.Asp486Glu) | |
| 7 | g.117590374T>C | CA457227404 | CFTR | c.1701T>C (p.Asp567=) c.*1415T>C (n.*1415T>C) c.1518T>C (p.Asp506=) c.*1T>C (n.*1T>C) c.*1525T>C (n.*1525T>C) c.1275T>C (p.Asp425=) c.1402-12452T>C (n.1402-12452T>C) c.1611T>C (p.Asp537=) c.1791T>C (p.Asp597=) c.1458T>C (p.Asp486=) | gnomAD v4 |
| 7 | g.117590374T>G | CA368977096 | CFTR | c.1701T>G (p.Asp567Glu) c.*1415T>G (n.*1415T>G) c.1518T>G (p.Asp506Glu) c.*1T>G (n.*1T>G) c.*1525T>G (n.*1525T>G) c.1275T>G (p.Asp425Glu) c.1402-12452T>G (n.1402-12452T>G) c.1611T>G (p.Asp537Glu) c.1791T>G (p.Asp597Glu) c.1458T>G (p.Asp486Glu) | |
| 7 | g.117590376del | CA326620 | CFTR | c.1703del (p.Leu568CysfsTer4) c.*1417del (n.*1417del) c.1520del (p.Leu507CysfsTer4) c.*3del (n.*3del) c.*1527del (n.*1527del) c.1277del (p.Leu426CysfsTer4) c.1402-12450del (n.1402-12450del) c.1613del (p.Leu538CysfsTer4) c.1793del (p.Leu598CysfsTer4) c.1460del (p.Leu487CysfsTer4) | ClinVar dbSNP |
| 7 | g.117590375T>A | CA368977099 | CFTR | c.1702T>A (p.Leu568Met) c.*1416T>A (n.*1416T>A) c.1519T>A (p.Leu507Met) c.*2T>A (n.*2T>A) c.*1526T>A (n.*1526T>A) c.1276T>A (p.Leu426Met) c.1402-12451T>A (n.1402-12451T>A) c.1612T>A (p.Leu538Met) c.1792T>A (p.Leu598Met) c.1459T>A (p.Leu487Met) | |
| 7 | g.117590375T>C | CA457227407 | CFTR | c.1702T>C (p.Leu568=) c.*1416T>C (n.*1416T>C) c.1519T>C (p.Leu507=) c.*2T>C (n.*2T>C) c.*1526T>C (n.*1526T>C) c.1276T>C (p.Leu426=) c.1402-12451T>C (n.1402-12451T>C) c.1612T>C (p.Leu538=) c.1792T>C (p.Leu598=) c.1459T>C (p.Leu487=) | |
| 7 | g.117590375T>G | CA368977100 | CFTR | c.1702T>G (p.Leu568Val) c.*1416T>G (n.*1416T>G) c.1519T>G (p.Leu507Val) c.*2T>G (n.*2T>G) c.*1526T>G (n.*1526T>G) c.1276T>G (p.Leu426Val) c.1402-12451T>G (n.1402-12451T>G) c.1612T>G (p.Leu538Val) c.1792T>G (p.Leu598Val) c.1459T>G (p.Leu487Val) | |
| 7 | g.117590376T>A | CA326618 | CFTR | c.1703T>A (p.Leu568Ter) c.*1417T>A (n.*1417T>A) c.1520T>A (p.Leu507Ter) c.*3T>A (n.*3T>A) c.*1527T>A (n.*1527T>A) c.1277T>A (p.Leu426Ter) c.1402-12450T>A (n.1402-12450T>A) c.1613T>A (p.Leu538Ter) c.1793T>A (p.Leu598Ter) c.1460T>A (p.Leu487Ter) | ClinVar dbSNP |
| 7 | g.117590376T>C | CA368977103 | CFTR | c.1703T>C (p.Leu568Ser) c.*1417T>C (n.*1417T>C) c.1520T>C (p.Leu507Ser) c.*3T>C (n.*3T>C) c.*1527T>C (n.*1527T>C) c.1277T>C (p.Leu426Ser) c.1402-12450T>C (n.1402-12450T>C) c.1613T>C (p.Leu538Ser) c.1793T>C (p.Leu598Ser) c.1460T>C (p.Leu487Ser) | |
| 7 | g.117590376T>G | CA368977105 | CFTR | c.1703T>G (p.Leu568Trp) c.*1417T>G (n.*1417T>G) c.1520T>G (p.Leu507Trp) c.*3T>G (n.*3T>G) c.*1527T>G (n.*1527T>G) c.1277T>G (p.Leu426Trp) c.1402-12450T>G (n.1402-12450T>G) c.1613T>G (p.Leu538Trp) c.1793T>G (p.Leu598Trp) c.1460T>G (p.Leu487Trp) | |
| 7 | g.117590376T= | CA1737392295 | CFTR | c.1703T= (p.Leu568=) c.*1417T= (n.*1417T=) c.1520T= (p.Leu507=) c.*3T= (n.*3T=) c.*1527T= (n.*1527T=) c.1277T= (p.Leu426=) c.1402-12450T= (n.1402-12450T=) c.1613T= (p.Leu538=) c.1793T= (p.Leu598=) c.1460T= (p.Leu487=) | |
| 7 | g.117590377G>A | CA164946339 | CFTR | c.1704G>A (p.Leu568=) c.*1418G>A (n.*1418G>A) c.1521G>A (p.Leu507=) c.*4G>A (n.*4G>A) c.*1528G>A (n.*1528G>A) c.1278G>A (p.Leu426=) c.1402-12449G>A (n.1402-12449G>A) c.1614G>A (p.Leu538=) c.1794G>A (p.Leu598=) c.1461G>A (p.Leu487=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117590377G>C | CA368977108 | CFTR | c.1704G>C (p.Leu568Phe) c.*1418G>C (n.*1418G>C) c.1521G>C (p.Leu507Phe) c.*4G>C (n.*4G>C) c.*1528G>C (n.*1528G>C) c.1278G>C (p.Leu426Phe) c.1402-12449G>C (n.1402-12449G>C) c.1614G>C (p.Leu538Phe) c.1794G>C (p.Leu598Phe) c.1461G>C (p.Leu487Phe) | |
| 7 | g.117590377G= | CA1737392299 | CFTR | c.1704G= (p.Leu568=) c.*1418G= (n.*1418G=) c.1521G= (p.Leu507=) c.*4G= (n.*4G=) c.*1528G= (n.*1528G=) c.1278G= (p.Leu426=) c.1402-12449G= (n.1402-12449G=) c.1614G= (p.Leu538=) c.1794G= (p.Leu598=) c.1461G= (p.Leu487=) | |
| 7 | g.117590377G>T | CA326621 | CFTR | c.1704G>T (p.Leu568Phe) c.*1418G>T (n.*1418G>T) c.1521G>T (p.Leu507Phe) c.*4G>T (n.*4G>T) c.*1528G>T (n.*1528G>T) c.1278G>T (p.Leu426Phe) c.1402-12449G>T (n.1402-12449G>T) c.1614G>T (p.Leu538Phe) c.1794G>T (p.Leu598Phe) c.1461G>T (p.Leu487Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117590378T>A | CA368977111 | CFTR | c.1705T>A (p.Tyr569Asn) c.*1419T>A (n.*1419T>A) c.1522T>A (p.Tyr508Asn) c.*5T>A (n.*5T>A) c.*1529T>A (n.*1529T>A) c.1279T>A (p.Tyr427Asn) c.1402-12448T>A (n.1402-12448T>A) c.1615T>A (p.Tyr539Asn) c.1795T>A (p.Tyr599Asn) c.1462T>A (p.Tyr488Asn) | |
| 7 | g.117590378T>C | CA326623 | CFTR | c.1705T>C (p.Tyr569His) c.*1419T>C (n.*1419T>C) c.1522T>C (p.Tyr508His) c.*5T>C (n.*5T>C) c.*1529T>C (n.*1529T>C) c.1279T>C (p.Tyr427His) c.1402-12448T>C (n.1402-12448T>C) c.1615T>C (p.Tyr539His) c.1795T>C (p.Tyr599His) c.1462T>C (p.Tyr488His) | ClinVar dbSNP |
| 7 | g.117590378T>G | CA326624 | CFTR | c.1705T>G (p.Tyr569Asp) c.*1419T>G (n.*1419T>G) c.1522T>G (p.Tyr508Asp) c.*5T>G (n.*5T>G) c.*1529T>G (n.*1529T>G) c.1279T>G (p.Tyr427Asp) c.1402-12448T>G (n.1402-12448T>G) c.1615T>G (p.Tyr539Asp) c.1795T>G (p.Tyr599Asp) c.1462T>G (p.Tyr488Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590378T= | CA1737392305 | CFTR | c.1705T= (p.Tyr569=) c.*1419T= (n.*1419T=) c.1522T= (p.Tyr508=) c.*5T= (n.*5T=) c.*1529T= (n.*1529T=) c.1279T= (p.Tyr427=) c.1402-12448T= (n.1402-12448T=) c.1615T= (p.Tyr539=) c.1795T= (p.Tyr599=) c.1462T= (p.Tyr488=) | |
| 7 | g.117590379A= | CA1737392315 | CFTR | c.1706A= (p.Tyr569=) c.*1420A= (n.*1420A=) c.1523A= (p.Tyr508=) c.*6A= (n.*6A=) c.*1530A= (n.*1530A=) c.1280A= (p.Tyr427=) c.1402-12447A= (n.1402-12447A=) c.1616A= (p.Tyr539=) c.1796A= (p.Tyr599=) c.1463A= (p.Tyr488=) | |
| 7 | g.117590379A>C | CA368977119 | CFTR | c.1706A>C (p.Tyr569Ser) c.*1420A>C (n.*1420A>C) c.1523A>C (p.Tyr508Ser) c.*6A>C (n.*6A>C) c.*1530A>C (n.*1530A>C) c.1280A>C (p.Tyr427Ser) c.1402-12447A>C (n.1402-12447A>C) c.1616A>C (p.Tyr539Ser) c.1796A>C (p.Tyr599Ser) c.1463A>C (p.Tyr488Ser) | |
| 7 | g.117590379A>G | CA326625 | CFTR | c.1706A>G (p.Tyr569Cys) c.*1420A>G (n.*1420A>G) c.1523A>G (p.Tyr508Cys) c.*6A>G (n.*6A>G) c.*1530A>G (n.*1530A>G) c.1280A>G (p.Tyr427Cys) c.1402-12447A>G (n.1402-12447A>G) c.1616A>G (p.Tyr539Cys) c.1796A>G (p.Tyr599Cys) c.1463A>G (p.Tyr488Cys) | ClinVar dbSNP |
| 7 | g.117590379A>T | CA368977117 | CFTR | c.1706A>T (p.Tyr569Phe) c.*1420A>T (n.*1420A>T) c.1523A>T (p.Tyr508Phe) c.*6A>T (n.*6A>T) c.*1530A>T (n.*1530A>T) c.1280A>T (p.Tyr427Phe) c.1402-12447A>T (n.1402-12447A>T) c.1616A>T (p.Tyr539Phe) c.1796A>T (p.Tyr599Phe) c.1463A>T (p.Tyr488Phe) | |
| 7 | g.117590380T>A | CA326626 | CFTR | c.1707T>A (p.Tyr569Ter) c.*1421T>A (n.*1421T>A) c.1524T>A (p.Tyr508Ter) c.*7T>A (n.*7T>A) c.*1531T>A (n.*1531T>A) c.1281T>A (p.Tyr427Ter) c.1402-12446T>A (n.1402-12446T>A) c.1617T>A (p.Tyr539Ter) c.1797T>A (p.Tyr599Ter) c.1464T>A (p.Tyr488Ter) | ClinVar dbSNP |
| 7 | g.117590380T>C | CA4451068 | CFTR | c.1707T>C (p.Tyr569=) c.*1421T>C (n.*1421T>C) c.1524T>C (p.Tyr508=) c.*7T>C (n.*7T>C) c.*1531T>C (n.*1531T>C) c.1281T>C (p.Tyr427=) c.1402-12446T>C (n.1402-12446T>C) c.1617T>C (p.Tyr539=) c.1797T>C (p.Tyr599=) c.1464T>C (p.Tyr488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590380T>G | CA368977126 | CFTR | c.1707T>G (p.Tyr569Ter) c.*1421T>G (n.*1421T>G) c.1524T>G (p.Tyr508Ter) c.*7T>G (n.*7T>G) c.*1531T>G (n.*1531T>G) c.1281T>G (p.Tyr427Ter) c.1402-12446T>G (n.1402-12446T>G) c.1617T>G (p.Tyr539Ter) c.1797T>G (p.Tyr599Ter) c.1464T>G (p.Tyr488Ter) | |
| 7 | g.117590380T= | CA1737392322 | CFTR | c.1707T= (p.Tyr569=) c.*1421T= (n.*1421T=) c.1524T= (p.Tyr508=) c.*7T= (n.*7T=) c.*1531T= (n.*1531T=) c.1281T= (p.Tyr427=) c.1402-12446T= (n.1402-12446T=) c.1617T= (p.Tyr539=) c.1797T= (p.Tyr599=) c.1464T= (p.Tyr488=) | |
| 7 | g.117590382del | CA2684619116 | CFTR | c.1709del (p.Leu570TyrfsTer2) c.*1423del (n.*1423del) c.1526del (p.Leu509TyrfsTer2) c.*9del (n.*9del) c.*1533del (n.*1533del) c.1283del (p.Leu428TyrfsTer2) c.1402-12444del (n.1402-12444del) c.1619del (p.Leu540TyrfsTer2) c.1799del (p.Leu600TyrfsTer2) c.1466del (p.Leu489TyrfsTer2) | gnomAD v4 |
| 7 | g.117590381T>A | CA368977128 | CFTR | c.1708T>A (p.Leu570Ile) c.*1422T>A (n.*1422T>A) c.1525T>A (p.Leu509Ile) c.*8T>A (n.*8T>A) c.*1532T>A (n.*1532T>A) c.1282T>A (p.Leu428Ile) c.1402-12445T>A (n.1402-12445T>A) c.1618T>A (p.Leu540Ile) c.1798T>A (p.Leu600Ile) c.1465T>A (p.Leu489Ile) | |
| 7 | g.117590381T>C | CA457227411 | CFTR | c.1708T>C (p.Leu570=) c.*1422T>C (n.*1422T>C) c.1525T>C (p.Leu509=) c.*8T>C (n.*8T>C) c.*1532T>C (n.*1532T>C) c.1282T>C (p.Leu428=) c.1402-12445T>C (n.1402-12445T>C) c.1618T>C (p.Leu540=) c.1798T>C (p.Leu600=) c.1465T>C (p.Leu489=) | |
| 7 | g.117590381T>G | CA368977130 | CFTR | c.1708T>G (p.Leu570Val) c.*1422T>G (n.*1422T>G) c.1525T>G (p.Leu509Val) c.*8T>G (n.*8T>G) c.*1532T>G (n.*1532T>G) c.1282T>G (p.Leu428Val) c.1402-12445T>G (n.1402-12445T>G) c.1618T>G (p.Leu540Val) c.1798T>G (p.Leu600Val) c.1465T>G (p.Leu489Val) | |
| 7 | g.117590382T>A | CA368977136 | CFTR | c.1709T>A (p.Leu570Ter) c.*1423T>A (n.*1423T>A) c.1526T>A (p.Leu509Ter) c.*9T>A (n.*9T>A) c.*1533T>A (n.*1533T>A) c.1283T>A (p.Leu428Ter) c.1402-12444T>A (n.1402-12444T>A) c.1619T>A (p.Leu540Ter) c.1799T>A (p.Leu600Ter) c.1466T>A (p.Leu489Ter) | |
| 7 | g.117590382T>C | CA368977132 | CFTR | c.1709T>C (p.Leu570Ser) c.*1423T>C (n.*1423T>C) c.1526T>C (p.Leu509Ser) c.*9T>C (n.*9T>C) c.*1533T>C (n.*1533T>C) c.1283T>C (p.Leu428Ser) c.1402-12444T>C (n.1402-12444T>C) c.1619T>C (p.Leu540Ser) c.1799T>C (p.Leu600Ser) c.1466T>C (p.Leu489Ser) | ClinVar COSMIC |
| 7 | g.117590382T>G | CA368977134 | CFTR | c.1709T>G (p.Leu570Ter) c.*1423T>G (n.*1423T>G) c.1526T>G (p.Leu509Ter) c.*9T>G (n.*9T>G) c.*1533T>G (n.*1533T>G) c.1283T>G (p.Leu428Ter) c.1402-12444T>G (n.1402-12444T>G) c.1619T>G (p.Leu540Ter) c.1799T>G (p.Leu600Ter) c.1466T>G (p.Leu489Ter) | |
| 7 | g.117590383del | CA2695208331 | CFTR | c.1710del (p.Leu570PhefsTer2) c.*1424del (n.*1424del) c.1527del (p.Leu509PhefsTer2) c.*10del (n.*10del) c.*1534del (n.*1534del) c.1284del (p.Leu428PhefsTer2) c.1402-12443del (n.1402-12443del) c.1620del (p.Leu540PhefsTer2) c.1800del (p.Leu600PhefsTer2) c.1467del (p.Leu489PhefsTer2) | |
| 7 | g.117590383A>C | CA368977139 | CFTR | c.1710A>C (p.Leu570Phe) c.*1424A>C (n.*1424A>C) c.1527A>C (p.Leu509Phe) c.*10A>C (n.*10A>C) c.*1534A>C (n.*1534A>C) c.1284A>C (p.Leu428Phe) c.1402-12443A>C (n.1402-12443A>C) c.1620A>C (p.Leu540Phe) c.1800A>C (p.Leu600Phe) c.1467A>C (p.Leu489Phe) | |
| 7 | g.117590383A>G | CA457227414 | CFTR | c.1710A>G (p.Leu570=) c.*1424A>G (n.*1424A>G) c.1527A>G (p.Leu509=) c.*10A>G (n.*10A>G) c.*1534A>G (n.*1534A>G) c.1284A>G (p.Leu428=) c.1402-12443A>G (n.1402-12443A>G) c.1620A>G (p.Leu540=) c.1800A>G (p.Leu600=) c.1467A>G (p.Leu489=) | |
| 7 | g.117590383A>T | CA368977140 | CFTR | c.1710A>T (p.Leu570Phe) c.*1424A>T (n.*1424A>T) c.1527A>T (p.Leu509Phe) c.*10A>T (n.*10A>T) c.*1534A>T (n.*1534A>T) c.1284A>T (p.Leu428Phe) c.1402-12443A>T (n.1402-12443A>T) c.1620A>T (p.Leu540Phe) c.1800A>T (p.Leu600Phe) c.1467A>T (p.Leu489Phe) | |
| 7 | g.117590384T>A | CA368977142 | CFTR | c.1711T>A (p.Leu571Ile) c.*1425T>A (n.*1425T>A) c.1528T>A (p.Leu510Ile) c.*11T>A (n.*11T>A) c.*1535T>A (n.*1535T>A) c.1285T>A (p.Leu429Ile) c.1402-12442T>A (n.1402-12442T>A) c.1621T>A (p.Leu541Ile) c.1801T>A (p.Leu601Ile) c.1468T>A (p.Leu490Ile) | |
| 7 | g.117590384T>C | CA4451069 | CFTR | c.1711T>C (p.Leu571=) c.*1425T>C (n.*1425T>C) c.1528T>C (p.Leu510=) c.*11T>C (n.*11T>C) c.*1535T>C (n.*1535T>C) c.1285T>C (p.Leu429=) c.1402-12442T>C (n.1402-12442T>C) c.1621T>C (p.Leu541=) c.1801T>C (p.Leu601=) c.1468T>C (p.Leu490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590384T>G | CA368977145 | CFTR | c.1711T>G (p.Leu571Val) c.*1425T>G (n.*1425T>G) c.1528T>G (p.Leu510Val) c.*11T>G (n.*11T>G) c.*1535T>G (n.*1535T>G) c.1285T>G (p.Leu429Val) c.1402-12442T>G (n.1402-12442T>G) c.1621T>G (p.Leu541Val) c.1801T>G (p.Leu601Val) c.1468T>G (p.Leu490Val) | |
| 7 | g.117590384T= | CA1737392327 | CFTR | c.1711T= (p.Leu571=) c.*1425T= (n.*1425T=) c.1528T= (p.Leu510=) c.*11T= (n.*11T=) c.*1535T= (n.*1535T=) c.1285T= (p.Leu429=) c.1402-12442T= (n.1402-12442T=) c.1621T= (p.Leu541=) c.1801T= (p.Leu601=) c.1468T= (p.Leu490=) | |
| 7 | g.117590385T>A | CA368977147 | CFTR | c.1712T>A (p.Leu571Ter) c.*1426T>A (n.*1426T>A) c.1529T>A (p.Leu510Ter) c.*12T>A (n.*12T>A) c.*1536T>A (n.*1536T>A) c.1286T>A (p.Leu429Ter) c.1402-12441T>A (n.1402-12441T>A) c.1622T>A (p.Leu541Ter) c.1802T>A (p.Leu601Ter) c.1469T>A (p.Leu490Ter) | |
| 7 | g.117590385T>C | CA326629 | CFTR | c.1712T>C (p.Leu571Ser) c.*1426T>C (n.*1426T>C) c.1529T>C (p.Leu510Ser) c.*12T>C (n.*12T>C) c.*1536T>C (n.*1536T>C) c.1286T>C (p.Leu429Ser) c.1402-12441T>C (n.1402-12441T>C) c.1622T>C (p.Leu541Ser) c.1802T>C (p.Leu601Ser) c.1469T>C (p.Leu490Ser) | ClinVar dbSNP |
| 7 | g.117590385T>G | CA368977148 | CFTR | c.1712T>G (p.Leu571Ter) c.*1426T>G (n.*1426T>G) c.1529T>G (p.Leu510Ter) c.*12T>G (n.*12T>G) c.*1536T>G (n.*1536T>G) c.1286T>G (p.Leu429Ter) c.1402-12441T>G (n.1402-12441T>G) c.1622T>G (p.Leu541Ter) c.1802T>G (p.Leu601Ter) c.1469T>G (p.Leu490Ter) | |
| 7 | g.117590385T= | CA1737392332 | CFTR | c.1712T= (p.Leu571=) c.*1426T= (n.*1426T=) c.1529T= (p.Leu510=) c.*12T= (n.*12T=) c.*1536T= (n.*1536T=) c.1286T= (p.Leu429=) c.1402-12441T= (n.1402-12441T=) c.1622T= (p.Leu541=) c.1802T= (p.Leu601=) c.1469T= (p.Leu490=) | |
| 7 | g.117590385_117590387delinsTAG | CA1737392334 | CFTR | c.1712_1714delinsTAG (p.Leu571=) c.*1426_*1428delinsTAG (n.*1426_*1428delinsTAG) c.1529_1531delinsTAG (p.Leu510=) c.*12_*14delinsTAG (n.*12_*14delinsTAG) c.*1536_*1538delinsTAG (n.*1536_*1538delinsTAG) c.1286_1288delinsTAG (p.Leu429=) c.1402-12441_1402-12439delinsTAG (n.1402-12441_1402-12439delinsTAG) c.1622_1624delinsTAG (p.Leu541=) c.1802_1804delinsTAG (p.Leu601=) c.1469_1471delinsTAG (p.Leu490=) | |
| 7 | g.117590386A>C | CA368977152 | CFTR | c.1713A>C (p.Leu571Phe) c.*1427A>C (n.*1427A>C) c.1530A>C (p.Leu510Phe) c.*13A>C (n.*13A>C) c.*1537A>C (n.*1537A>C) c.1287A>C (p.Leu429Phe) c.1402-12440A>C (n.1402-12440A>C) c.1623A>C (p.Leu541Phe) c.1803A>C (p.Leu601Phe) c.1470A>C (p.Leu490Phe) | |
| 7 | g.117590386A>G | CA457227418 | CFTR | c.1713A>G (p.Leu571=) c.*1427A>G (n.*1427A>G) c.1530A>G (p.Leu510=) c.*13A>G (n.*13A>G) c.*1537A>G (n.*1537A>G) c.1287A>G (p.Leu429=) c.1402-12440A>G (n.1402-12440A>G) c.1623A>G (p.Leu541=) c.1803A>G (p.Leu601=) c.1470A>G (p.Leu490=) |