WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117587736_117587831delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA | CA1737390013 | CFTR | c.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 | |
| 7 | g.117587740_117587834del | CA913190192 | CFTR | c.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 |
| 7 | g.117587808C>A | CA368976108 | CFTR | c.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 |
| 7 | g.117587808C= | CA1737390531 | CFTR | c.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=) | |
| 7 | g.117587808C>G | CA368976110 | CFTR | c.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) | |
| 7 | g.117587808C>T | CA325585 | CFTR | c.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 |
| 7 | g.117587808_117587809delinsCA | CA1737390533 | CFTR | c.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=) | |
| 7 | g.117587809A= | CA1737390539 | CFTR | c.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=) | |
| 7 | g.117587809A>C | CA368976115 | CFTR | c.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 |
| 7 | g.117587809A>G | CA368976117 | CFTR | c.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) | |
| 7 | g.117587809A>T | CA368976119 | CFTR | c.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) | |
| 7 | g.117587810del | CA326582 | CFTR | c.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 |
| 7 | g.117587810A>C | CA368976123 | CFTR | c.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) | |
| 7 | g.117587810A>G | CA457227295 | CFTR | c.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 |
| 7 | g.117587810A>T | CA368976125 | CFTR | c.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) | |
| 7 | g.117587811C>A | CA457227296 | CFTR | c.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 |
| 7 | g.117587811C= | CA1737390545 | CFTR | c.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=) | |
| 7 | g.117587811C>G | CA326583 | CFTR | c.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 |
| 7 | g.117587811C>T | CA340635 | CFTR | c.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 |
| 7 | g.117587812G>A | CA325608 | CFTR | c.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 |
| 7 | g.117587812G>C | CA368976131 | CFTR | c.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 |
| 7 | g.117587812G= | CA1737390557 | CFTR | c.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=) | |
| 7 | g.117587812G>T | CA368976132 | CFTR | c.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 |
| 7 | g.117587813A>C | CA457227297 | CFTR | c.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=) | |
| 7 | g.117587813A>G | CA457227298 | CFTR | c.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=) | |
| 7 | g.117587813A>T | CA457227299 | CFTR | c.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=) | |
| 7 | g.117587814G>A | CA368976135 | CFTR | c.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 |
| 7 | g.117587814G>C | CA368976137 | CFTR | c.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) | |
| 7 | g.117587814G= | CA1737390561 | CFTR | c.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=) | |
| 7 | g.117587814G>T | CA368976139 | CFTR | c.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) | |
| 7 | g.117587814_117587815insA | CA326585 | CFTR | c.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 |
| 7 | g.117587815C>A | CA164945024 | CFTR | c.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 |
| 7 | g.117587815C= | CA1737390568 | CFTR | c.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=) | |
| 7 | g.117587815C>G | CA368976145 | CFTR | c.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 |
| 7 | g.117587815C>T | CA368976147 | CFTR | c.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) | |
| 7 | g.117587816A>C | CA457227300 | CFTR | c.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=) | |
| 7 | g.117587816A>G | CA457227301 | CFTR | c.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=) | ClinVar |
| 7 | g.117587816A>T | CA457227302 | CFTR | c.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=) | |
| 7 | g.117587817A= | CA1737390572 | CFTR | c.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=) | |
| 7 | g.117587817A>C | CA457227303 | CFTR | c.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=) | |
| 7 | g.117587817A>G | CA326586 | CFTR | c.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 |
| 7 | g.117587817A>T | CA368976149 | CFTR | c.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 |
| 7 | g.117587818G>A | CA368976153 | CFTR | c.1664G>A (p.Arg555Lys) c.*1378G>A (n.*1378G>A) c.1481G>A (p.Arg494Lys) c.*1488G>A (n.*1488G>A) c.1238G>A (p.Arg413Lys) c.1402-15008G>A (n.1402-15008G>A) c.1574G>A (p.Arg525Lys) c.1754G>A (p.Arg585Lys) c.1421G>A (p.Arg474Lys) | |
| 7 | g.117587818G>C | CA368976156 | CFTR | c.1664G>C (p.Arg555Thr) c.*1378G>C (n.*1378G>C) c.1481G>C (p.Arg494Thr) c.*1488G>C (n.*1488G>C) c.1238G>C (p.Arg413Thr) c.1402-15008G>C (n.1402-15008G>C) c.1574G>C (p.Arg525Thr) c.1754G>C (p.Arg585Thr) c.1421G>C (p.Arg474Thr) | |
| 7 | g.117587818G>T | CA368976158 | CFTR | c.1664G>T (p.Arg555Ile) c.*1378G>T (n.*1378G>T) c.1481G>T (p.Arg494Ile) c.*1488G>T (n.*1488G>T) c.1238G>T (p.Arg413Ile) c.1402-15008G>T (n.1402-15008G>T) c.1574G>T (p.Arg525Ile) c.1754G>T (p.Arg585Ile) c.1421G>T (p.Arg474Ile) | COSMIC |
| 7 | g.117587819A>C | CA368976161 | CFTR | c.1665A>C (p.Arg555Ser) c.*1379A>C (n.*1379A>C) c.1482A>C (p.Arg494Ser) c.*1489A>C (n.*1489A>C) c.1239A>C (p.Arg413Ser) c.1402-15007A>C (n.1402-15007A>C) c.1575A>C (p.Arg525Ser) c.1755A>C (p.Arg585Ser) c.1422A>C (p.Arg474Ser) | COSMIC |
| 7 | g.117587819A>G | CA457227304 | CFTR | c.1665A>G (p.Arg555=) c.*1379A>G (n.*1379A>G) c.1482A>G (p.Arg494=) c.*1489A>G (n.*1489A>G) c.1239A>G (p.Arg413=) c.1402-15007A>G (n.1402-15007A>G) c.1575A>G (p.Arg525=) c.1755A>G (p.Arg585=) c.1422A>G (p.Arg474=) | |
| 7 | g.117587819A>T | CA368976163 | CFTR | c.1665A>T (p.Arg555Ser) c.*1379A>T (n.*1379A>T) c.1482A>T (p.Arg494Ser) c.*1489A>T (n.*1489A>T) c.1239A>T (p.Arg413Ser) c.1402-15007A>T (n.1402-15007A>T) c.1575A>T (p.Arg525Ser) c.1755A>T (p.Arg585Ser) c.1422A>T (p.Arg474Ser) | |
| 7 | g.117587820A= | CA1737390578 | CFTR | c.1666A= (p.Ile556=) c.*1380A= (n.*1380A=) c.1483A= (p.Ile495=) c.*1490A= (n.*1490A=) c.1240A= (p.Ile414=) c.1402-15006A= (n.1402-15006A=) c.1576A= (p.Ile526=) c.1756A= (p.Ile586=) c.1423A= (p.Ile475=) | |
| 7 | g.117587820A>C | CA368976166 | CFTR | c.1666A>C (p.Ile556Leu) c.*1380A>C (n.*1380A>C) c.1483A>C (p.Ile495Leu) c.*1490A>C (n.*1490A>C) c.1240A>C (p.Ile414Leu) c.1402-15006A>C (n.1402-15006A>C) c.1576A>C (p.Ile526Leu) c.1756A>C (p.Ile586Leu) c.1423A>C (p.Ile475Leu) | ClinVar |