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.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=) | |
| 7 | g.117587823_117587824delinsTC | CA1737390587 | CFTR | c.1669_1670delinsTC (p.Ser557=) c.*1383_*1384delinsTC (n.*1383_*1384delinsTC) c.1486_1487delinsTC (p.Ser496=) c.*1493_*1494delinsTC (n.*1493_*1494delinsTC) c.1243_1244delinsTC (p.Ser415=) c.1402-15003_1402-15002delinsTC (n.1402-15003_1402-15002delinsTC) c.1579_1580delinsTC (p.Ser527=) c.1759_1760delinsTC (p.Ser587=) c.1426_1427delinsTC (p.Ser476=) | |
| 7 | g.117587824del | CA326590 | CFTR | c.1670del (p.Ser557PhefsTer2) c.*1384del (n.*1384del) c.1487del (p.Ser496PhefsTer2) c.*1494del (n.*1494del) c.1244del (p.Ser415PhefsTer2) c.1402-15002del (n.1402-15002del) c.1580del (p.Ser527PhefsTer2) c.1760del (p.Ser587PhefsTer2) c.1427del (p.Ser476PhefsTer2) | ClinVar dbSNP |
| 7 | g.117587824C>A | CA368976190 | CFTR | c.1670C>A (p.Ser557Tyr) c.*1384C>A (n.*1384C>A) c.1487C>A (p.Ser496Tyr) c.*1494C>A (n.*1494C>A) c.1244C>A (p.Ser415Tyr) c.1402-15002C>A (n.1402-15002C>A) c.1580C>A (p.Ser527Tyr) c.1760C>A (p.Ser587Tyr) c.1427C>A (p.Ser476Tyr) | dbSNP gnomAD v4 COSMIC |
| 7 | g.117587824C= | CA1737390595 | CFTR | c.1670C= (p.Ser557=) c.*1384C= (n.*1384C=) c.1487C= (p.Ser496=) c.*1494C= (n.*1494C=) c.1244C= (p.Ser415=) c.1402-15002C= (n.1402-15002C=) c.1580C= (p.Ser527=) c.1760C= (p.Ser587=) c.1427C= (p.Ser476=) | |
| 7 | g.117587824C>G | CA368976185 | CFTR | c.1670C>G (p.Ser557Cys) c.*1384C>G (n.*1384C>G) c.1487C>G (p.Ser496Cys) c.*1494C>G (n.*1494C>G) c.1244C>G (p.Ser415Cys) c.1402-15002C>G (n.1402-15002C>G) c.1580C>G (p.Ser527Cys) c.1760C>G (p.Ser587Cys) c.1427C>G (p.Ser476Cys) | |
| 7 | g.117587824C>T | CA368976187 | CFTR | c.1670C>T (p.Ser557Phe) c.*1384C>T (n.*1384C>T) c.1487C>T (p.Ser496Phe) c.*1494C>T (n.*1494C>T) c.1244C>T (p.Ser415Phe) c.1402-15002C>T (n.1402-15002C>T) c.1580C>T (p.Ser527Phe) c.1760C>T (p.Ser587Phe) c.1427C>T (p.Ser476Phe) | |
| 7 | g.117587825T>A | CA457227308 | CFTR | c.1671T>A (p.Ser557=) c.*1385T>A (n.*1385T>A) c.1488T>A (p.Ser496=) c.*1495T>A (n.*1495T>A) c.1245T>A (p.Ser415=) c.1402-15001T>A (n.1402-15001T>A) c.1581T>A (p.Ser527=) c.1761T>A (p.Ser587=) c.1428T>A (p.Ser476=) | |
| 7 | g.117587825T>C | CA457227309 | CFTR | c.1671T>C (p.Ser557=) c.*1385T>C (n.*1385T>C) c.1488T>C (p.Ser496=) c.*1495T>C (n.*1495T>C) c.1245T>C (p.Ser415=) c.1402-15001T>C (n.1402-15001T>C) c.1581T>C (p.Ser527=) c.1761T>C (p.Ser587=) c.1428T>C (p.Ser476=) | |
| 7 | g.117587825T>G | CA457227307 | CFTR | c.1671T>G (p.Ser557=) c.*1385T>G (n.*1385T>G) c.1488T>G (p.Ser496=) c.*1495T>G (n.*1495T>G) c.1245T>G (p.Ser415=) c.1402-15001T>G (n.1402-15001T>G) c.1581T>G (p.Ser527=) c.1761T>G (p.Ser587=) c.1428T>G (p.Ser476=) | |
| 7 | g.117587827del | CA2684620198 | CFTR | c.1673del (p.Leu558Ter) c.*1387del (n.*1387del) c.1490del (p.Leu497Ter) c.*1497del (n.*1497del) c.1247del (p.Leu416Ter) c.1402-14999del (n.1402-14999del) c.1583del (p.Leu528Ter) c.1763del (p.Leu588Ter) c.1430del (p.Leu477Ter) | gnomAD v4 |
| 7 | g.117587826_117587827del | CA2580076324 | CFTR | c.1672_1673del (p.Leu558SerfsTer9) c.*1386_*1387del (n.*1386_*1387del) c.1489_1490del (p.Leu497SerfsTer9) c.1672_1673del (p.Leu558SerfsTer12) c.*1496_*1497del (n.*1496_*1497del) c.1246_1247del (p.Leu416SerfsTer9) c.1402-15000_1402-14999del (n.1402-15000_1402-14999del) c.1582_1583del (p.Leu528SerfsTer9) c.1762_1763del (p.Leu588SerfsTer9) c.1429_1430del (p.Leu477SerfsTer9) | ClinVar |
| 7 | g.117587826T>A | CA368976193 | CFTR | c.1672T>A (p.Leu558Ile) c.*1386T>A (n.*1386T>A) c.1489T>A (p.Leu497Ile) c.*1496T>A (n.*1496T>A) c.1246T>A (p.Leu416Ile) c.1402-15000T>A (n.1402-15000T>A) c.1582T>A (p.Leu528Ile) c.1762T>A (p.Leu588Ile) c.1429T>A (p.Leu477Ile) | |
| 7 | g.117587826T>C | CA457227310 | CFTR | c.1672T>C (p.Leu558=) c.*1386T>C (n.*1386T>C) c.1489T>C (p.Leu497=) c.*1496T>C (n.*1496T>C) c.1246T>C (p.Leu416=) c.1402-15000T>C (n.1402-15000T>C) c.1582T>C (p.Leu528=) c.1762T>C (p.Leu588=) c.1429T>C (p.Leu477=) | gnomAD v4 |
| 7 | g.117587826T>G | CA368976195 | CFTR | c.1672T>G (p.Leu558Val) c.*1386T>G (n.*1386T>G) c.1489T>G (p.Leu497Val) c.*1496T>G (n.*1496T>G) c.1246T>G (p.Leu416Val) c.1402-15000T>G (n.1402-15000T>G) c.1582T>G (p.Leu528Val) c.1762T>G (p.Leu588Val) c.1429T>G (p.Leu477Val) | gnomAD v4 |
| 7 | g.117587827T>A | CA368976197 | CFTR | c.1673T>A (p.Leu558Ter) c.*1387T>A (n.*1387T>A) c.1490T>A (p.Leu497Ter) c.*1497T>A (n.*1497T>A) c.1247T>A (p.Leu416Ter) c.1402-14999T>A (n.1402-14999T>A) c.1583T>A (p.Leu528Ter) c.1763T>A (p.Leu588Ter) c.1430T>A (p.Leu477Ter) | ClinVar |
| 7 | g.117587827T>C | CA325694 | CFTR | c.1673T>C (p.Leu558Ser) c.*1387T>C (n.*1387T>C) c.1490T>C (p.Leu497Ser) c.*1497T>C (n.*1497T>C) c.1247T>C (p.Leu416Ser) c.1402-14999T>C (n.1402-14999T>C) c.1583T>C (p.Leu528Ser) c.1763T>C (p.Leu588Ser) c.1430T>C (p.Leu477Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117587827T>G | CA368976199 | CFTR | c.1673T>G (p.Leu558Ter) c.*1387T>G (n.*1387T>G) c.1490T>G (p.Leu497Ter) c.*1497T>G (n.*1497T>G) c.1247T>G (p.Leu416Ter) c.1402-14999T>G (n.1402-14999T>G) c.1583T>G (p.Leu528Ter) c.1763T>G (p.Leu588Ter) c.1430T>G (p.Leu477Ter) | |
| 7 | g.117587827T= | CA1737390599 | CFTR | c.1673T= (p.Leu558=) c.*1387T= (n.*1387T=) c.1490T= (p.Leu497=) c.*1497T= (n.*1497T=) c.1247T= (p.Leu416=) c.1402-14999T= (n.1402-14999T=) c.1583T= (p.Leu528=) c.1763T= (p.Leu588=) c.1430T= (p.Leu477=) | |
| 7 | g.117587827_117587828delinsTA | CA1737390602 | CFTR | c.1673_1674delinsTA (p.Leu558=) c.*1387_*1388delinsTA (n.*1387_*1388delinsTA) c.1490_1491delinsTA (p.Leu497=) c.*1497_*1498delinsTA (n.*1497_*1498delinsTA) c.1247_1248delinsTA (p.Leu416=) c.1402-14999_1402-14998delinsTA (n.1402-14999_1402-14998delinsTA) c.1583_1584delinsTA (p.Leu528=) c.1763_1764delinsTA (p.Leu588=) c.1430_1431delinsTA (p.Leu477=) | |
| 7 | g.117587828del | CA326591 | CFTR | c.1674del (p.Ala559GlnfsTer13) c.*1388del (n.*1388del) c.1491del (p.Ala498GlnfsTer13) c.1674del (p.Ala559GlnfsTer?) c.*1498del (n.*1498del) c.1248del (p.Ala417GlnfsTer13) c.1402-14998del (n.1402-14998del) c.1584del (p.Ala529GlnfsTer13) c.1764del (p.Ala589GlnfsTer13) c.1431del (p.Ala478GlnfsTer13) | ClinVar dbSNP |