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.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) | ClinVar 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) | ClinVar |
| 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=) | |
| 7 | g.117590386A>T | CA368977154 | CFTR | c.1713A>T (p.Leu571Phe) c.*1427A>T (n.*1427A>T) c.1530A>T (p.Leu510Phe) c.*13A>T (n.*13A>T) c.*1537A>T (n.*1537A>T) c.1287A>T (p.Leu429Phe) c.1402-12440A>T (n.1402-12440A>T) c.1623A>T (p.Leu541Phe) c.1803A>T (p.Leu601Phe) c.1470A>T (p.Leu490Phe) | |
| 7 | g.117590387_117590388del | CA326630 | CFTR | c.1714_1715del (p.Asp572LeufsTer16) c.*1428_*1429del (n.*1428_*1429del) c.1531_1532del (p.Asp511LeufsTer16) c.*14_*15del (n.*14_*15del) c.*1538_*1539del (n.*1538_*1539del) c.1288_1289del (p.Asp430LeufsTer16) c.1402-12439_1402-12438del (n.1402-12439_1402-12438del) c.1624_1625del (p.Asp542LeufsTer16) c.1804_1805del (p.Asp602LeufsTer16) c.1471_1472del (p.Asp491LeufsTer16) | ClinVar dbSNP |
| 7 | g.117590387G>A | CA326631 | CFTR | c.1714G>A (p.Asp572Asn) c.*1428G>A (n.*1428G>A) c.1531G>A (p.Asp511Asn) c.*14G>A (n.*14G>A) c.*1538G>A (n.*1538G>A) c.1288G>A (p.Asp430Asn) c.1402-12439G>A (n.1402-12439G>A) c.1624G>A (p.Asp542Asn) c.1804G>A (p.Asp602Asn) c.1471G>A (p.Asp491Asn) | ClinVar dbSNP |
| 7 | g.117590387G>C | CA368977158 | CFTR | c.1714G>C (p.Asp572His) c.*1428G>C (n.*1428G>C) c.1531G>C (p.Asp511His) c.*14G>C (n.*14G>C) c.*1538G>C (n.*1538G>C) c.1288G>C (p.Asp430His) c.1402-12439G>C (n.1402-12439G>C) c.1624G>C (p.Asp542His) c.1804G>C (p.Asp602His) c.1471G>C (p.Asp491His) | |
| 7 | g.117590387G= | CA1737392344 | CFTR | c.1714G= (p.Asp572=) c.*1428G= (n.*1428G=) c.1531G= (p.Asp511=) c.*14G= (n.*14G=) c.*1538G= (n.*1538G=) c.1288G= (p.Asp430=) c.1402-12439G= (n.1402-12439G=) c.1624G= (p.Asp542=) c.1804G= (p.Asp602=) c.1471G= (p.Asp491=) | |
| 7 | g.117590387G>T | CA368977161 | CFTR | c.1714G>T (p.Asp572Tyr) c.*1428G>T (n.*1428G>T) c.1531G>T (p.Asp511Tyr) c.*14G>T (n.*14G>T) c.*1538G>T (n.*1538G>T) c.1288G>T (p.Asp430Tyr) c.1402-12439G>T (n.1402-12439G>T) c.1624G>T (p.Asp542Tyr) c.1804G>T (p.Asp602Tyr) c.1471G>T (p.Asp491Tyr) | gnomAD v4 |
| 7 | g.117590387_117590392delinsAA | CA2695208332 | CFTR | c.1714_1719delinsAA (p.Asp572AsnfsTer6) c.*1428_*1433delinsAA (n.*1428_*1433delinsAA) c.1531_1536delinsAA (p.Asp511AsnfsTer6) c.*14_*19delinsAA (n.*14_*19delinsAA) c.*1538_*1543delinsAA (n.*1538_*1543delinsAA) c.1288_1293delinsAA (p.Asp430AsnfsTer6) c.1402-12439_1402-12434delinsAA (n.1402-12439_1402-12434delinsAA) c.1624_1629delinsAA (p.Asp542AsnfsTer6) c.1804_1809delinsAA (p.Asp602AsnfsTer6) c.1471_1476delinsAA (p.Asp491AsnfsTer6) | |
| 7 | g.117590388A= | CA1737392350 | CFTR | c.1715A= (p.Asp572=) c.*1429A= (n.*1429A=) c.1532A= (p.Asp511=) c.*15A= (n.*15A=) c.*1539A= (n.*1539A=) c.1289A= (p.Asp430=) c.1402-12438A= (n.1402-12438A=) c.1625A= (p.Asp542=) c.1805A= (p.Asp602=) c.1472A= (p.Asp491=) | |
| 7 | g.117590388A>C | CA368977163 | CFTR | c.1715A>C (p.Asp572Ala) c.*1429A>C (n.*1429A>C) c.1532A>C (p.Asp511Ala) c.*15A>C (n.*15A>C) c.*1539A>C (n.*1539A>C) c.1289A>C (p.Asp430Ala) c.1402-12438A>C (n.1402-12438A>C) c.1625A>C (p.Asp542Ala) c.1805A>C (p.Asp602Ala) c.1472A>C (p.Asp491Ala) | |
| 7 | g.117590388A>G | CA368977165 | CFTR | c.1715A>G (p.Asp572Gly) c.*1429A>G (n.*1429A>G) c.1532A>G (p.Asp511Gly) c.*15A>G (n.*15A>G) c.*1539A>G (n.*1539A>G) c.1289A>G (p.Asp430Gly) c.1402-12438A>G (n.1402-12438A>G) c.1625A>G (p.Asp542Gly) c.1805A>G (p.Asp602Gly) c.1472A>G (p.Asp491Gly) | ClinVar dbSNP |
| 7 | g.117590388A>T | CA368977168 | CFTR | c.1715A>T (p.Asp572Val) c.*1429A>T (n.*1429A>T) c.1532A>T (p.Asp511Val) c.*15A>T (n.*15A>T) c.*1539A>T (n.*1539A>T) c.1289A>T (p.Asp430Val) c.1402-12438A>T (n.1402-12438A>T) c.1625A>T (p.Asp542Val) c.1805A>T (p.Asp602Val) c.1472A>T (p.Asp491Val) | |
| 7 | g.117590389C>A | CA368977170 | CFTR | c.1716C>A (p.Asp572Glu) c.*1430C>A (n.*1430C>A) c.1533C>A (p.Asp511Glu) c.*16C>A (n.*16C>A) c.*1540C>A (n.*1540C>A) c.1290C>A (p.Asp430Glu) c.1402-12437C>A (n.1402-12437C>A) c.1626C>A (p.Asp542Glu) c.1806C>A (p.Asp602Glu) c.1473C>A (p.Asp491Glu) | |
| 7 | g.117590389C= | CA1737392353 | CFTR | c.1716C= (p.Asp572=) c.*1430C= (n.*1430C=) c.1533C= (p.Asp511=) c.*16C= (n.*16C=) c.*1540C= (n.*1540C=) c.1290C= (p.Asp430=) c.1402-12437C= (n.1402-12437C=) c.1626C= (p.Asp542=) c.1806C= (p.Asp602=) c.1473C= (p.Asp491=) | |
| 7 | g.117590389C>G | CA4451070 | CFTR | c.1716C>G (p.Asp572Glu) c.*1430C>G (n.*1430C>G) c.1533C>G (p.Asp511Glu) c.*16C>G (n.*16C>G) c.*1540C>G (n.*1540C>G) c.1290C>G (p.Asp430Glu) c.1402-12437C>G (n.1402-12437C>G) c.1626C>G (p.Asp542Glu) c.1806C>G (p.Asp602Glu) c.1473C>G (p.Asp491Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117590389C>T | CA457227422 | CFTR | c.1716C>T (p.Asp572=) c.*1430C>T (n.*1430C>T) c.1533C>T (p.Asp511=) c.*16C>T (n.*16C>T) c.*1540C>T (n.*1540C>T) c.1290C>T (p.Asp430=) c.1402-12437C>T (n.1402-12437C>T) c.1626C>T (p.Asp542=) c.1806C>T (p.Asp602=) c.1473C>T (p.Asp491=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117590390T>A | CA368977178 | CFTR | c.1717T>A (p.Ser573Thr) c.*1431T>A (n.*1431T>A) c.1534T>A (p.Ser512Thr) c.*17T>A (n.*17T>A) c.*1541T>A (n.*1541T>A) c.1291T>A (p.Ser431Thr) c.1402-12436T>A (n.1402-12436T>A) c.1627T>A (p.Ser543Thr) c.1807T>A (p.Ser603Thr) c.1474T>A (p.Ser492Thr) | |
| 7 | g.117590390T>C | CA368977176 | CFTR | c.1717T>C (p.Ser573Pro) c.*1431T>C (n.*1431T>C) c.1534T>C (p.Ser512Pro) c.*17T>C (n.*17T>C) c.*1541T>C (n.*1541T>C) c.1291T>C (p.Ser431Pro) c.1402-12436T>C (n.1402-12436T>C) c.1627T>C (p.Ser543Pro) c.1807T>C (p.Ser603Pro) c.1474T>C (p.Ser492Pro) | |
| 7 | g.117590390T>G | CA368977173 | CFTR | c.1717T>G (p.Ser573Ala) c.*1431T>G (n.*1431T>G) c.1534T>G (p.Ser512Ala) c.*17T>G (n.*17T>G) c.*1541T>G (n.*1541T>G) c.1291T>G (p.Ser431Ala) c.1402-12436T>G (n.1402-12436T>G) c.1627T>G (p.Ser543Ala) c.1807T>G (p.Ser603Ala) c.1474T>G (p.Ser492Ala) | |
| 7 | g.117590391C>A | CA368977181 | CFTR | c.1718C>A (p.Ser573Tyr) c.*1432C>A (n.*1432C>A) c.1535C>A (p.Ser512Tyr) c.*18C>A (n.*18C>A) c.*1542C>A (n.*1542C>A) c.1292C>A (p.Ser431Tyr) c.1402-12435C>A (n.1402-12435C>A) c.1628C>A (p.Ser543Tyr) c.1808C>A (p.Ser603Tyr) c.1475C>A (p.Ser492Tyr) | |
| 7 | g.117590391C= | CA1737392359 | CFTR | c.1718C= (p.Ser573=) c.*1432C= (n.*1432C=) c.1535C= (p.Ser512=) c.*18C= (n.*18C=) c.*1542C= (n.*1542C=) c.1292C= (p.Ser431=) c.1402-12435C= (n.1402-12435C=) c.1628C= (p.Ser543=) c.1808C= (p.Ser603=) c.1475C= (p.Ser492=) |