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.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=) | |
| 7 | g.117590391C>G | CA368977184 | CFTR | c.1718C>G (p.Ser573Cys) c.*1432C>G (n.*1432C>G) c.1535C>G (p.Ser512Cys) c.*18C>G (n.*18C>G) c.*1542C>G (n.*1542C>G) c.1292C>G (p.Ser431Cys) c.1402-12435C>G (n.1402-12435C>G) c.1628C>G (p.Ser543Cys) c.1808C>G (p.Ser603Cys) c.1475C>G (p.Ser492Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117590391C>T | CA4451071 | CFTR | c.1718C>T (p.Ser573Phe) c.*1432C>T (n.*1432C>T) c.1535C>T (p.Ser512Phe) c.*18C>T (n.*18C>T) c.*1542C>T (n.*1542C>T) c.1292C>T (p.Ser431Phe) c.1402-12435C>T (n.1402-12435C>T) c.1628C>T (p.Ser543Phe) c.1808C>T (p.Ser603Phe) c.1475C>T (p.Ser492Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590392T>A | CA457227425 | CFTR | c.1719T>A (p.Ser573=) c.*1433T>A (n.*1433T>A) c.1536T>A (p.Ser512=) c.*19T>A (n.*19T>A) c.*1543T>A (n.*1543T>A) c.1293T>A (p.Ser431=) c.1402-12434T>A (n.1402-12434T>A) c.1629T>A (p.Ser543=) c.1809T>A (p.Ser603=) c.1476T>A (p.Ser492=) | ClinVar |
| 7 | g.117590392T>C | CA457227426 | CFTR | c.1719T>C (p.Ser573=) c.*1433T>C (n.*1433T>C) c.1536T>C (p.Ser512=) c.*19T>C (n.*19T>C) c.*1543T>C (n.*1543T>C) c.1293T>C (p.Ser431=) c.1402-12434T>C (n.1402-12434T>C) c.1629T>C (p.Ser543=) c.1809T>C (p.Ser603=) c.1476T>C (p.Ser492=) | |
| 7 | g.117590392T>G | CA457227427 | CFTR | c.1719T>G (p.Ser573=) c.*1433T>G (n.*1433T>G) c.1536T>G (p.Ser512=) c.*19T>G (n.*19T>G) c.*1543T>G (n.*1543T>G) c.1293T>G (p.Ser431=) c.1402-12434T>G (n.1402-12434T>G) c.1629T>G (p.Ser543=) c.1809T>G (p.Ser603=) c.1476T>G (p.Ser492=) | |
| 7 | g.117590393C>A | CA368977187 | CFTR | c.1720C>A (p.Pro574Thr) c.*1434C>A (n.*1434C>A) c.1537C>A (p.Pro513Thr) c.*20C>A (n.*20C>A) c.*1544C>A (n.*1544C>A) c.1294C>A (p.Pro432Thr) c.1402-12433C>A (n.1402-12433C>A) c.1630C>A (p.Pro544Thr) c.1810C>A (p.Pro604Thr) c.1477C>A (p.Pro493Thr) | |
| 7 | g.117590393C= | CA1737392363 | CFTR | c.1720C= (p.Pro574=) c.*1434C= (n.*1434C=) c.1537C= (p.Pro513=) c.*20C= (n.*20C=) c.*1544C= (n.*1544C=) c.1294C= (p.Pro432=) c.1402-12433C= (n.1402-12433C=) c.1630C= (p.Pro544=) c.1810C= (p.Pro604=) c.1477C= (p.Pro493=) | |
| 7 | g.117590393C>G | CA368977188 | CFTR | c.1720C>G (p.Pro574Ala) c.*1434C>G (n.*1434C>G) c.1537C>G (p.Pro513Ala) c.*20C>G (n.*20C>G) c.*1544C>G (n.*1544C>G) c.1294C>G (p.Pro432Ala) c.1402-12433C>G (n.1402-12433C>G) c.1630C>G (p.Pro544Ala) c.1810C>G (p.Pro604Ala) c.1477C>G (p.Pro493Ala) | dbSNP |
| 7 | g.117590393C>T | CA326632 | CFTR | c.1720C>T (p.Pro574Ser) c.*1434C>T (n.*1434C>T) c.1537C>T (p.Pro513Ser) c.*20C>T (n.*20C>T) c.*1544C>T (n.*1544C>T) c.1294C>T (p.Pro432Ser) c.1402-12433C>T (n.1402-12433C>T) c.1630C>T (p.Pro544Ser) c.1810C>T (p.Pro604Ser) c.1477C>T (p.Pro493Ser) | ClinVar dbSNP COSMIC |
| 7 | g.117590393_117590399delinsCCTTTTG | CA1737392366 | CFTR | c.1720_1726delinsCCTTTTG (p.Pro574=) c.*1434_*1440delinsCCTTTTG (n.*1434_*1440delinsCCTTTTG) c.1537_1543delinsCCTTTTG (p.Pro513=) c.*20_*26delinsCCTTTTG (n.*20_*26delinsCCTTTTG) c.*1544_*1550delinsCCTTTTG (n.*1544_*1550delinsCCTTTTG) c.1294_1300delinsCCTTTTG (p.Pro432=) c.1402-12433_1402-12427delinsCCTTTTG (n.1402-12433_1402-12427delinsCCTTTTG) c.1630_1636delinsCCTTTTG (p.Pro544=) c.1810_1816delinsCCTTTTG (p.Pro604=) c.1477_1483delinsCCTTTTG (p.Pro493=) | |
| 7 | g.117590394C>A | CA325523 | CFTR | c.1721C>A (p.Pro574His) c.*1435C>A (n.*1435C>A) c.1538C>A (p.Pro513His) c.*21C>A (n.*21C>A) c.*1545C>A (n.*1545C>A) c.1295C>A (p.Pro432His) c.1402-12432C>A (n.1402-12432C>A) c.1631C>A (p.Pro544His) c.1811C>A (p.Pro604His) c.1478C>A (p.Pro493His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117590394C= | CA1737392372 | CFTR | c.1721C= (p.Pro574=) c.*1435C= (n.*1435C=) c.1538C= (p.Pro513=) c.*21C= (n.*21C=) c.*1545C= (n.*1545C=) c.1295C= (p.Pro432=) c.1402-12432C= (n.1402-12432C=) c.1631C= (p.Pro544=) c.1811C= (p.Pro604=) c.1478C= (p.Pro493=) | |
| 7 | g.117590394C>G | CA368977193 | CFTR | c.1721C>G (p.Pro574Arg) c.*1435C>G (n.*1435C>G) c.1538C>G (p.Pro513Arg) c.*21C>G (n.*21C>G) c.*1545C>G (n.*1545C>G) c.1295C>G (p.Pro432Arg) c.1402-12432C>G (n.1402-12432C>G) c.1631C>G (p.Pro544Arg) c.1811C>G (p.Pro604Arg) c.1478C>G (p.Pro493Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117590394C>T | CA368977195 | CFTR | c.1721C>T (p.Pro574Leu) c.*1435C>T (n.*1435C>T) c.1538C>T (p.Pro513Leu) c.*21C>T (n.*21C>T) c.*1545C>T (n.*1545C>T) c.1295C>T (p.Pro432Leu) c.1402-12432C>T (n.1402-12432C>T) c.1631C>T (p.Pro544Leu) c.1811C>T (p.Pro604Leu) c.1478C>T (p.Pro493Leu) | gnomAD v4 COSMIC |
| 7 | g.117590394_117590399del | CA577222019 | CFTR | c.1721_1726del (p.Pro574_Gly576delinsArg) c.*1435_*1440del (n.*1435_*1440del) c.1538_1543del (p.Pro513_Gly515delinsArg) c.*21_*26del (n.*21_*26del) c.*1545_*1550del (n.*1545_*1550del) c.1295_1300del (p.Pro432_Gly434delinsArg) c.1402-12432_1402-12427del (n.1402-12432_1402-12427del) c.1631_1636del (p.Pro544_Gly546delinsArg) c.1811_1816del (p.Pro604_Gly606delinsArg) c.1478_1483del (p.Pro493_Gly495delinsArg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117590395T>A | CA457227430 | CFTR | c.1722T>A (p.Pro574=) c.*1436T>A (n.*1436T>A) c.1539T>A (p.Pro513=) c.*22T>A (n.*22T>A) c.*1546T>A (n.*1546T>A) c.1296T>A (p.Pro432=) c.1402-12431T>A (n.1402-12431T>A) c.1632T>A (p.Pro544=) c.1812T>A (p.Pro604=) c.1479T>A (p.Pro493=) | ClinVar |
| 7 | g.117590395T>C | CA457227432 | CFTR | c.1722T>C (p.Pro574=) c.*1436T>C (n.*1436T>C) c.1539T>C (p.Pro513=) c.*22T>C (n.*22T>C) c.*1546T>C (n.*1546T>C) c.1296T>C (p.Pro432=) c.1402-12431T>C (n.1402-12431T>C) c.1632T>C (p.Pro544=) c.1812T>C (p.Pro604=) c.1479T>C (p.Pro493=) | |
| 7 | g.117590395T>G | CA457227428 | CFTR | c.1722T>G (p.Pro574=) c.*1436T>G (n.*1436T>G) c.1539T>G (p.Pro513=) c.*22T>G (n.*22T>G) c.*1546T>G (n.*1546T>G) c.1296T>G (p.Pro432=) c.1402-12431T>G (n.1402-12431T>G) c.1632T>G (p.Pro544=) c.1812T>G (p.Pro604=) c.1479T>G (p.Pro493=) | |
| 7 | g.117590398del | CA2695208333 | CFTR | c.1725del (p.Phe575LeufsTer4) c.*1439del (n.*1439del) c.1542del (p.Phe514LeufsTer4) c.*25del (n.*25del) c.*1549del (n.*1549del) c.1299del (p.Phe433LeufsTer4) c.1402-12428del (n.1402-12428del) c.1635del (p.Phe545LeufsTer4) c.1815del (p.Phe605LeufsTer4) c.1482del (p.Phe494LeufsTer4) |