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.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 |
| 7 | g.117587820A>G | CA200903 | CFTR | c.1666A>G (p.Ile556Val) c.*1380A>G (n.*1380A>G) c.1483A>G (p.Ile495Val) c.*1490A>G (n.*1490A>G) c.1240A>G (p.Ile414Val) c.1402-15006A>G (n.1402-15006A>G) c.1576A>G (p.Ile526Val) c.1756A>G (p.Ile586Val) c.1423A>G (p.Ile475Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117587820A>T | CA368976169 | CFTR | c.1666A>T (p.Ile556Phe) c.*1380A>T (n.*1380A>T) c.1483A>T (p.Ile495Phe) c.*1490A>T (n.*1490A>T) c.1240A>T (p.Ile414Phe) c.1402-15006A>T (n.1402-15006A>T) c.1576A>T (p.Ile526Phe) c.1756A>T (p.Ile586Phe) c.1423A>T (p.Ile475Phe) | |
| 7 | g.117587821T>A | CA368976172 | CFTR | c.1667T>A (p.Ile556Asn) c.*1381T>A (n.*1381T>A) c.1484T>A (p.Ile495Asn) c.*1491T>A (n.*1491T>A) c.1241T>A (p.Ile414Asn) c.1402-15005T>A (n.1402-15005T>A) c.1577T>A (p.Ile526Asn) c.1757T>A (p.Ile586Asn) c.1424T>A (p.Ile475Asn) | |
| 7 | g.117587821T>C | CA368976173 | CFTR | c.1667T>C (p.Ile556Thr) c.*1381T>C (n.*1381T>C) c.1484T>C (p.Ile495Thr) c.*1491T>C (n.*1491T>C) c.1241T>C (p.Ile414Thr) c.1402-15005T>C (n.1402-15005T>C) c.1577T>C (p.Ile526Thr) c.1757T>C (p.Ile586Thr) c.1424T>C (p.Ile475Thr) | |
| 7 | g.117587821T>G | CA368976175 | CFTR | c.1667T>G (p.Ile556Ser) c.*1381T>G (n.*1381T>G) c.1484T>G (p.Ile495Ser) c.*1491T>G (n.*1491T>G) c.1241T>G (p.Ile414Ser) c.1402-15005T>G (n.1402-15005T>G) c.1577T>G (p.Ile526Ser) c.1757T>G (p.Ile586Ser) c.1424T>G (p.Ile475Ser) | |
| 7 | g.117587822T>A | CA457227305 | CFTR | c.1668T>A (p.Ile556=) c.*1382T>A (n.*1382T>A) c.1485T>A (p.Ile495=) c.*1492T>A (n.*1492T>A) c.1242T>A (p.Ile414=) c.1402-15004T>A (n.1402-15004T>A) c.1578T>A (p.Ile526=) c.1758T>A (p.Ile586=) c.1425T>A (p.Ile475=) | |
| 7 | g.117587822T>C | CA457227306 | CFTR | c.1668T>C (p.Ile556=) c.*1382T>C (n.*1382T>C) c.1485T>C (p.Ile495=) c.*1492T>C (n.*1492T>C) c.1242T>C (p.Ile414=) c.1402-15004T>C (n.1402-15004T>C) c.1578T>C (p.Ile526=) c.1758T>C (p.Ile586=) c.1425T>C (p.Ile475=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117587822T>G | CA368976176 | CFTR | c.1668T>G (p.Ile556Met) c.*1382T>G (n.*1382T>G) c.1485T>G (p.Ile495Met) c.*1492T>G (n.*1492T>G) c.1242T>G (p.Ile414Met) c.1402-15004T>G (n.1402-15004T>G) c.1578T>G (p.Ile526Met) c.1758T>G (p.Ile586Met) c.1425T>G (p.Ile475Met) | |
| 7 | g.117587822T= | CA1737390583 | CFTR | c.1668T= (p.Ile556=) c.*1382T= (n.*1382T=) c.1485T= (p.Ile495=) c.*1492T= (n.*1492T=) c.1242T= (p.Ile414=) c.1402-15004T= (n.1402-15004T=) c.1578T= (p.Ile526=) c.1758T= (p.Ile586=) c.1425T= (p.Ile475=) | |
| 7 | g.117587823T>A | CA4451052 | CFTR | c.1669T>A (p.Ser557Thr) c.*1383T>A (n.*1383T>A) c.1486T>A (p.Ser496Thr) c.*1493T>A (n.*1493T>A) c.1243T>A (p.Ser415Thr) c.1402-15003T>A (n.1402-15003T>A) c.1579T>A (p.Ser527Thr) c.1759T>A (p.Ser587Thr) c.1426T>A (p.Ser476Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117587823T>C | CA368976182 | CFTR | c.1669T>C (p.Ser557Pro) c.*1383T>C (n.*1383T>C) c.1486T>C (p.Ser496Pro) c.*1493T>C (n.*1493T>C) c.1243T>C (p.Ser415Pro) c.1402-15003T>C (n.1402-15003T>C) c.1579T>C (p.Ser527Pro) c.1759T>C (p.Ser587Pro) c.1426T>C (p.Ser476Pro) | |
| 7 | g.117587823T>G | CA368976179 | CFTR | c.1669T>G (p.Ser557Ala) c.*1383T>G (n.*1383T>G) c.1486T>G (p.Ser496Ala) c.*1493T>G (n.*1493T>G) c.1243T>G (p.Ser415Ala) c.1402-15003T>G (n.1402-15003T>G) c.1579T>G (p.Ser527Ala) c.1759T>G (p.Ser587Ala) c.1426T>G (p.Ser476Ala) | |
| 7 | g.117587823T= | CA1737390588 | CFTR | c.1669T= (p.Ser557=) c.*1383T= (n.*1383T=) c.1486T= (p.Ser496=) c.*1493T= (n.*1493T=) c.1243T= (p.Ser415=) c.1402-15003T= (n.1402-15003T=) c.1579T= (p.Ser527=) c.1759T= (p.Ser587=) c.1426T= (p.Ser476=) |