Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117587736_117587831delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCACA1737390013CFTRc.1585-3_1677delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.*1299-3_*1391delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1402-3_1494delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.*1409-3_*1501delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1159-3_1251delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1402-15090_1402-14995delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA (n.1402-15090_1402-14995delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA)
c.1495-3_1587delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1675-3_1767delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1342-3_1434delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
7g.117587740_117587834delCA913190192CFTRc.1586_1679+1del
c.*1300_*1393+1del
c.1403_1496+1del
c.*1410_*1503+1del
c.1160_1253+1del
c.1402-15086_1402-14992del (n.1402-15086_1402-14992del)
c.1496_1589+1del
c.1676_1769+1del
c.1343_1436+1del
ClinVar dbSNP
7g.117587806delCA326581CFTRc.1652del (p.Gly551ValfsTer8)
c.*1366del (n.*1366del)
c.1469del (p.Gly490ValfsTer8)
c.*1476del (n.*1476del)
c.1226del (p.Gly409ValfsTer8)
c.1402-15020del (n.1402-15020del)
c.1562del (p.Gly521ValfsTer8)
c.1742del (p.Gly581ValfsTer8)
c.1409del (p.Gly470ValfsTer8)
ClinVar dbSNP
7g.117587806G>ACA340634CFTRc.1652G>A (p.Gly551Asp)
c.*1366G>A (n.*1366G>A)
c.1469G>A (p.Gly490Asp)
c.*1476G>A (n.*1476G>A)
c.1226G>A (p.Gly409Asp)
c.1402-15020G>A (n.1402-15020G>A)
c.1562G>A (p.Gly521Asp)
c.1742G>A (p.Gly581Asp)
c.1409G>A (p.Gly470Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117587806G>CCA368976100CFTRc.1652G>C (p.Gly551Ala)
c.*1366G>C (n.*1366G>C)
c.1469G>C (p.Gly490Ala)
c.*1476G>C (n.*1476G>C)
c.1226G>C (p.Gly409Ala)
c.1402-15020G>C (n.1402-15020G>C)
c.1562G>C (p.Gly521Ala)
c.1742G>C (p.Gly581Ala)
c.1409G>C (p.Gly470Ala)
7g.117587806G=CA1737390524CFTRc.1652G= (p.Gly551=)
c.*1366G= (n.*1366G=)
c.1469G= (p.Gly490=)
c.*1476G= (n.*1476G=)
c.1226G= (p.Gly409=)
c.1402-15020G= (n.1402-15020G=)
c.1562G= (p.Gly521=)
c.1742G= (p.Gly581=)
c.1409G= (p.Gly470=)
7g.117587806G>TCA368976106CFTRc.1652G>T (p.Gly551Val)
c.*1366G>T (n.*1366G>T)
c.1469G>T (p.Gly490Val)
c.*1476G>T (n.*1476G>T)
c.1226G>T (p.Gly409Val)
c.1402-15020G>T (n.1402-15020G>T)
c.1562G>T (p.Gly521Val)
c.1742G>T (p.Gly581Val)
c.1409G>T (p.Gly470Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117587807T>ACA457227292CFTRc.1653T>A (p.Gly551=)
c.*1367T>A (n.*1367T>A)
c.1470T>A (p.Gly490=)
c.*1477T>A (n.*1477T>A)
c.1227T>A (p.Gly409=)
c.1402-15019T>A (n.1402-15019T>A)
c.1563T>A (p.Gly521=)
c.1743T>A (p.Gly581=)
c.1410T>A (p.Gly470=)
7g.117587807T>CCA457227293CFTRc.1653T>C (p.Gly551=)
c.*1367T>C (n.*1367T>C)
c.1470T>C (p.Gly490=)
c.*1477T>C (n.*1477T>C)
c.1227T>C (p.Gly409=)
c.1402-15019T>C (n.1402-15019T>C)
c.1563T>C (p.Gly521=)
c.1743T>C (p.Gly581=)
c.1410T>C (p.Gly470=)
7g.117587807T>GCA457227294CFTRc.1653T>G (p.Gly551=)
c.*1367T>G (n.*1367T>G)
c.1470T>G (p.Gly490=)
c.*1477T>G (n.*1477T>G)
c.1227T>G (p.Gly409=)
c.1402-15019T>G (n.1402-15019T>G)
c.1563T>G (p.Gly521=)
c.1743T>G (p.Gly581=)
c.1410T>G (p.Gly470=)
7g.117587808C>ACA368976108CFTRc.1654C>A (p.Gln552Lys)
c.*1368C>A (n.*1368C>A)
c.1471C>A (p.Gln491Lys)
c.*1478C>A (n.*1478C>A)
c.1228C>A (p.Gln410Lys)
c.1402-15018C>A (n.1402-15018C>A)
c.1564C>A (p.Gln522Lys)
c.1744C>A (p.Gln582Lys)
c.1411C>A (p.Gln471Lys)
ClinVar dbSNP gnomAD v4
7g.117587808C=CA1737390531CFTRc.1654C= (p.Gln552=)
c.*1368C= (n.*1368C=)
c.1471C= (p.Gln491=)
c.*1478C= (n.*1478C=)
c.1228C= (p.Gln410=)
c.1402-15018C= (n.1402-15018C=)
c.1564C= (p.Gln522=)
c.1744C= (p.Gln582=)
c.1411C= (p.Gln471=)
7g.117587808C>GCA368976110CFTRc.1654C>G (p.Gln552Glu)
c.*1368C>G (n.*1368C>G)
c.1471C>G (p.Gln491Glu)
c.*1478C>G (n.*1478C>G)
c.1228C>G (p.Gln410Glu)
c.1402-15018C>G (n.1402-15018C>G)
c.1564C>G (p.Gln522Glu)
c.1744C>G (p.Gln582Glu)
c.1411C>G (p.Gln471Glu)
7g.117587808C>TCA325585CFTRc.1654C>T (p.Gln552Ter)
c.*1368C>T (n.*1368C>T)
c.1471C>T (p.Gln491Ter)
c.*1478C>T (n.*1478C>T)
c.1228C>T (p.Gln410Ter)
c.1402-15018C>T (n.1402-15018C>T)
c.1564C>T (p.Gln522Ter)
c.1744C>T (p.Gln582Ter)
c.1411C>T (p.Gln471Ter)
ClinVar dbSNP
7g.117587808_117587809delinsCACA1737390533CFTRc.1654_1655delinsCA (p.Gln552=)
c.*1368_*1369delinsCA (n.*1368_*1369delinsCA)
c.1471_1472delinsCA (p.Gln491=)
c.*1478_*1479delinsCA (n.*1478_*1479delinsCA)
c.1228_1229delinsCA (p.Gln410=)
c.1402-15018_1402-15017delinsCA (n.1402-15018_1402-15017delinsCA)
c.1564_1565delinsCA (p.Gln522=)
c.1744_1745delinsCA (p.Gln582=)
c.1411_1412delinsCA (p.Gln471=)
7g.117587809A=CA1737390539CFTRc.1655A= (p.Gln552=)
c.*1369A= (n.*1369A=)
c.1472A= (p.Gln491=)
c.*1479A= (n.*1479A=)
c.1229A= (p.Gln410=)
c.1402-15017A= (n.1402-15017A=)
c.1565A= (p.Gln522=)
c.1745A= (p.Gln582=)
c.1412A= (p.Gln471=)
7g.117587809A>CCA368976115CFTRc.1655A>C (p.Gln552Pro)
c.*1369A>C (n.*1369A>C)
c.1472A>C (p.Gln491Pro)
c.*1479A>C (n.*1479A>C)
c.1229A>C (p.Gln410Pro)
c.1402-15017A>C (n.1402-15017A>C)
c.1565A>C (p.Gln522Pro)
c.1745A>C (p.Gln582Pro)
c.1412A>C (p.Gln471Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117587809A>GCA368976117CFTRc.1655A>G (p.Gln552Arg)
c.*1369A>G (n.*1369A>G)
c.1472A>G (p.Gln491Arg)
c.*1479A>G (n.*1479A>G)
c.1229A>G (p.Gln410Arg)
c.1402-15017A>G (n.1402-15017A>G)
c.1565A>G (p.Gln522Arg)
c.1745A>G (p.Gln582Arg)
c.1412A>G (p.Gln471Arg)
7g.117587809A>TCA368976119CFTRc.1655A>T (p.Gln552Leu)
c.*1369A>T (n.*1369A>T)
c.1472A>T (p.Gln491Leu)
c.*1479A>T (n.*1479A>T)
c.1229A>T (p.Gln410Leu)
c.1402-15017A>T (n.1402-15017A>T)
c.1565A>T (p.Gln522Leu)
c.1745A>T (p.Gln582Leu)
c.1412A>T (p.Gln471Leu)
7g.117587810delCA326582CFTRc.1656del (p.Gln552HisfsTer7)
c.*1370del (n.*1370del)
c.1473del (p.Gln491HisfsTer7)
c.*1480del (n.*1480del)
c.1230del (p.Gln410HisfsTer7)
c.1402-15016del (n.1402-15016del)
c.1566del (p.Gln522HisfsTer7)
c.1746del (p.Gln582HisfsTer7)
c.1413del (p.Gln471HisfsTer7)
ClinVar dbSNP
7g.117587810A>CCA368976123CFTRc.1656A>C (p.Gln552His)
c.*1370A>C (n.*1370A>C)
c.1473A>C (p.Gln491His)
c.*1480A>C (n.*1480A>C)
c.1230A>C (p.Gln410His)
c.1402-15016A>C (n.1402-15016A>C)
c.1566A>C (p.Gln522His)
c.1746A>C (p.Gln582His)
c.1413A>C (p.Gln471His)
7g.117587810A>GCA457227295CFTRc.1656A>G (p.Gln552=)
c.*1370A>G (n.*1370A>G)
c.1473A>G (p.Gln491=)
c.*1480A>G (n.*1480A>G)
c.1230A>G (p.Gln410=)
c.1402-15016A>G (n.1402-15016A>G)
c.1566A>G (p.Gln522=)
c.1746A>G (p.Gln582=)
c.1413A>G (p.Gln471=)
ClinVar
7g.117587810A>TCA368976125CFTRc.1656A>T (p.Gln552His)
c.*1370A>T (n.*1370A>T)
c.1473A>T (p.Gln491His)
c.*1480A>T (n.*1480A>T)
c.1230A>T (p.Gln410His)
c.1402-15016A>T (n.1402-15016A>T)
c.1566A>T (p.Gln522His)
c.1746A>T (p.Gln582His)
c.1413A>T (p.Gln471His)
7g.117587811C>ACA457227296CFTRc.1657C>A (p.Arg553=)
c.*1371C>A (n.*1371C>A)
c.1474C>A (p.Arg492=)
c.*1481C>A (n.*1481C>A)
c.1231C>A (p.Arg411=)
c.1402-15015C>A (n.1402-15015C>A)
c.1567C>A (p.Arg523=)
c.1747C>A (p.Arg583=)
c.1414C>A (p.Arg472=)
gnomAD v4
7g.117587811C=CA1737390545CFTRc.1657C= (p.Arg553=)
c.*1371C= (n.*1371C=)
c.1474C= (p.Arg492=)
c.*1481C= (n.*1481C=)
c.1231C= (p.Arg411=)
c.1402-15015C= (n.1402-15015C=)
c.1567C= (p.Arg523=)
c.1747C= (p.Arg583=)
c.1414C= (p.Arg472=)
7g.117587811C>GCA326583CFTRc.1657C>G (p.Arg553Gly)
c.*1371C>G (n.*1371C>G)
c.1474C>G (p.Arg492Gly)
c.*1481C>G (n.*1481C>G)
c.1231C>G (p.Arg411Gly)
c.1402-15015C>G (n.1402-15015C>G)
c.1567C>G (p.Arg523Gly)
c.1747C>G (p.Arg583Gly)
c.1414C>G (p.Arg472Gly)
ClinVar dbSNP gnomAD v4
7g.117587811C>TCA340635CFTRc.1657C>T (p.Arg553Ter)
c.*1371C>T (n.*1371C>T)
c.1474C>T (p.Arg492Ter)
c.*1481C>T (n.*1481C>T)
c.1231C>T (p.Arg411Ter)
c.1402-15015C>T (n.1402-15015C>T)
c.1567C>T (p.Arg523Ter)
c.1747C>T (p.Arg583Ter)
c.1414C>T (p.Arg472Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117587812G>ACA325608CFTRc.1658G>A (p.Arg553Gln)
c.*1372G>A (n.*1372G>A)
c.1475G>A (p.Arg492Gln)
c.*1482G>A (n.*1482G>A)
c.1232G>A (p.Arg411Gln)
c.1402-15014G>A (n.1402-15014G>A)
c.1568G>A (p.Arg523Gln)
c.1748G>A (p.Arg583Gln)
c.1415G>A (p.Arg472Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117587812G>CCA368976131CFTRc.1658G>C (p.Arg553Pro)
c.*1372G>C (n.*1372G>C)
c.1475G>C (p.Arg492Pro)
c.*1482G>C (n.*1482G>C)
c.1232G>C (p.Arg411Pro)
c.1402-15014G>C (n.1402-15014G>C)
c.1568G>C (p.Arg523Pro)
c.1748G>C (p.Arg583Pro)
c.1415G>C (p.Arg472Pro)
dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117587812G=CA1737390557CFTRc.1658G= (p.Arg553=)
c.*1372G= (n.*1372G=)
c.1475G= (p.Arg492=)
c.*1482G= (n.*1482G=)
c.1232G= (p.Arg411=)
c.1402-15014G= (n.1402-15014G=)
c.1568G= (p.Arg523=)
c.1748G= (p.Arg583=)
c.1415G= (p.Arg472=)
7g.117587812G>TCA368976132CFTRc.1658G>T (p.Arg553Leu)
c.*1372G>T (n.*1372G>T)
c.1475G>T (p.Arg492Leu)
c.*1482G>T (n.*1482G>T)
c.1232G>T (p.Arg411Leu)
c.1402-15014G>T (n.1402-15014G>T)
c.1568G>T (p.Arg523Leu)
c.1748G>T (p.Arg583Leu)
c.1415G>T (p.Arg472Leu)
gnomAD v4
7g.117587813A>CCA457227297CFTRc.1659A>C (p.Arg553=)
c.*1373A>C (n.*1373A>C)
c.1476A>C (p.Arg492=)
c.*1483A>C (n.*1483A>C)
c.1233A>C (p.Arg411=)
c.1402-15013A>C (n.1402-15013A>C)
c.1569A>C (p.Arg523=)
c.1749A>C (p.Arg583=)
c.1416A>C (p.Arg472=)
7g.117587813A>GCA457227298CFTRc.1659A>G (p.Arg553=)
c.*1373A>G (n.*1373A>G)
c.1476A>G (p.Arg492=)
c.*1483A>G (n.*1483A>G)
c.1233A>G (p.Arg411=)
c.1402-15013A>G (n.1402-15013A>G)
c.1569A>G (p.Arg523=)
c.1749A>G (p.Arg583=)
c.1416A>G (p.Arg472=)
7g.117587813A>TCA457227299CFTRc.1659A>T (p.Arg553=)
c.*1373A>T (n.*1373A>T)
c.1476A>T (p.Arg492=)
c.*1483A>T (n.*1483A>T)
c.1233A>T (p.Arg411=)
c.1402-15013A>T (n.1402-15013A>T)
c.1569A>T (p.Arg523=)
c.1749A>T (p.Arg583=)
c.1416A>T (p.Arg472=)
7g.117587814G>ACA368976135CFTRc.1660G>A (p.Ala554Thr)
c.*1374G>A (n.*1374G>A)
c.1477G>A (p.Ala493Thr)
c.*1484G>A (n.*1484G>A)
c.1234G>A (p.Ala412Thr)
c.1402-15012G>A (n.1402-15012G>A)
c.1570G>A (p.Ala524Thr)
c.1750G>A (p.Ala584Thr)
c.1417G>A (p.Ala473Thr)
gnomAD v4
7g.117587814G>CCA368976137CFTRc.1660G>C (p.Ala554Pro)
c.*1374G>C (n.*1374G>C)
c.1477G>C (p.Ala493Pro)
c.*1484G>C (n.*1484G>C)
c.1234G>C (p.Ala412Pro)
c.1402-15012G>C (n.1402-15012G>C)
c.1570G>C (p.Ala524Pro)
c.1750G>C (p.Ala584Pro)
c.1417G>C (p.Ala473Pro)
7g.117587814G=CA1737390561CFTRc.1660G= (p.Ala554=)
c.*1374G= (n.*1374G=)
c.1477G= (p.Ala493=)
c.*1484G= (n.*1484G=)
c.1234G= (p.Ala412=)
c.1402-15012G= (n.1402-15012G=)
c.1570G= (p.Ala524=)
c.1750G= (p.Ala584=)
c.1417G= (p.Ala473=)
7g.117587814G>TCA368976139CFTRc.1660G>T (p.Ala554Ser)
c.*1374G>T (n.*1374G>T)
c.1477G>T (p.Ala493Ser)
c.*1484G>T (n.*1484G>T)
c.1234G>T (p.Ala412Ser)
c.1402-15012G>T (n.1402-15012G>T)
c.1570G>T (p.Ala524Ser)
c.1750G>T (p.Ala584Ser)
c.1417G>T (p.Ala473Ser)
7g.117587814_117587815insACA326585CFTRc.1660_1661insA (p.Ala554AspfsTer14)
c.*1374_*1375insA (n.*1374_*1375insA)
c.1477_1478insA (p.Ala493AspfsTer14)
c.1660_1661insA (p.Ala554AspfsTer17)
c.*1484_*1485insA (n.*1484_*1485insA)
c.1234_1235insA (p.Ala412AspfsTer14)
c.1402-15012_1402-15011insA (n.1402-15012_1402-15011insA)
c.1570_1571insA (p.Ala524AspfsTer14)
c.1750_1751insA (p.Ala584AspfsTer14)
c.1417_1418insA (p.Ala473AspfsTer14)
ClinVar dbSNP
7g.117587815C>ACA164945024CFTRc.1661C>A (p.Ala554Glu)
c.*1375C>A (n.*1375C>A)
c.1478C>A (p.Ala493Glu)
c.*1485C>A (n.*1485C>A)
c.1235C>A (p.Ala412Glu)
c.1402-15011C>A (n.1402-15011C>A)
c.1571C>A (p.Ala524Glu)
c.1751C>A (p.Ala584Glu)
c.1418C>A (p.Ala473Glu)
dbSNP
7g.117587815C=CA1737390568CFTRc.1661C= (p.Ala554=)
c.*1375C= (n.*1375C=)
c.1478C= (p.Ala493=)
c.*1485C= (n.*1485C=)
c.1235C= (p.Ala412=)
c.1402-15011C= (n.1402-15011C=)
c.1571C= (p.Ala524=)
c.1751C= (p.Ala584=)
c.1418C= (p.Ala473=)
7g.117587815C>GCA368976145CFTRc.1661C>G (p.Ala554Gly)
c.*1375C>G (n.*1375C>G)
c.1478C>G (p.Ala493Gly)
c.*1485C>G (n.*1485C>G)
c.1235C>G (p.Ala412Gly)
c.1402-15011C>G (n.1402-15011C>G)
c.1571C>G (p.Ala524Gly)
c.1751C>G (p.Ala584Gly)
c.1418C>G (p.Ala473Gly)
ClinVar
7g.117587815C>TCA368976147CFTRc.1661C>T (p.Ala554Val)
c.*1375C>T (n.*1375C>T)
c.1478C>T (p.Ala493Val)
c.*1485C>T (n.*1485C>T)
c.1235C>T (p.Ala412Val)
c.1402-15011C>T (n.1402-15011C>T)
c.1571C>T (p.Ala524Val)
c.1751C>T (p.Ala584Val)
c.1418C>T (p.Ala473Val)
7g.117587816A>CCA457227300CFTRc.1662A>C (p.Ala554=)
c.*1376A>C (n.*1376A>C)
c.1479A>C (p.Ala493=)
c.*1486A>C (n.*1486A>C)
c.1236A>C (p.Ala412=)
c.1402-15010A>C (n.1402-15010A>C)
c.1572A>C (p.Ala524=)
c.1752A>C (p.Ala584=)
c.1419A>C (p.Ala473=)
7g.117587816A>GCA457227301CFTRc.1662A>G (p.Ala554=)
c.*1376A>G (n.*1376A>G)
c.1479A>G (p.Ala493=)
c.*1486A>G (n.*1486A>G)
c.1236A>G (p.Ala412=)
c.1402-15010A>G (n.1402-15010A>G)
c.1572A>G (p.Ala524=)
c.1752A>G (p.Ala584=)
c.1419A>G (p.Ala473=)
7g.117587816A>TCA457227302CFTRc.1662A>T (p.Ala554=)
c.*1376A>T (n.*1376A>T)
c.1479A>T (p.Ala493=)
c.*1486A>T (n.*1486A>T)
c.1236A>T (p.Ala412=)
c.1402-15010A>T (n.1402-15010A>T)
c.1572A>T (p.Ala524=)
c.1752A>T (p.Ala584=)
c.1419A>T (p.Ala473=)
7g.117587817A=CA1737390572CFTRc.1663A= (p.Arg555=)
c.*1377A= (n.*1377A=)
c.1480A= (p.Arg494=)
c.*1487A= (n.*1487A=)
c.1237A= (p.Arg413=)
c.1402-15009A= (n.1402-15009A=)
c.1573A= (p.Arg525=)
c.1753A= (p.Arg585=)
c.1420A= (p.Arg474=)
7g.117587817A>CCA457227303CFTRc.1663A>C (p.Arg555=)
c.*1377A>C (n.*1377A>C)
c.1480A>C (p.Arg494=)
c.*1487A>C (n.*1487A>C)
c.1237A>C (p.Arg413=)
c.1402-15009A>C (n.1402-15009A>C)
c.1573A>C (p.Arg525=)
c.1753A>C (p.Arg585=)
c.1420A>C (p.Arg474=)
7g.117587817A>GCA326586CFTRc.1663A>G (p.Arg555Gly)
c.*1377A>G (n.*1377A>G)
c.1480A>G (p.Arg494Gly)
c.*1487A>G (n.*1487A>G)
c.1237A>G (p.Arg413Gly)
c.1402-15009A>G (n.1402-15009A>G)
c.1573A>G (p.Arg525Gly)
c.1753A>G (p.Arg585Gly)
c.1420A>G (p.Arg474Gly)
ClinVar dbSNP
7g.117587817A>TCA368976149CFTRc.1663A>T (p.Arg555Ter)
c.*1377A>T (n.*1377A>T)
c.1480A>T (p.Arg494Ter)
c.*1487A>T (n.*1487A>T)
c.1237A>T (p.Arg413Ter)
c.1402-15009A>T (n.1402-15009A>T)
c.1573A>T (p.Arg525Ter)
c.1753A>T (p.Arg585Ter)
c.1420A>T (p.Arg474Ter)
ClinVar

Number of alleles fetched