| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117559480_117559489del | CA326479 | CFTR,CFTR-AS1 | c.1409_1418del (p.Val470GlufsTer?) c.*1123_*1132del (n.*1123_*1132del) c.1226_1235del (p.Val409GlufsTer?) c.1404_1413del (p.Asp469GlufsTer?) c.*1233_*1242del (n.*1233_*1242del) c.983_992del (p.Val328GlufsTer?) c.1319_1328del (p.Val440GlufsTer?) c.1499_1508del (p.Val500GlufsTer?) c.1166_1175del (p.Val389GlufsTer?) n.221+1246_221+1255del | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559489del | CA326480 | CFTR,CFTR-AS1 | c.1418del (p.Gly473GlufsTer?) c.*1132del (n.*1132del) c.1235del (p.Gly412GlufsTer?) c.1413del (p.Arg472GlufsTer?) c.*1242del (n.*1242del) c.992del (p.Gly331GlufsTer?) c.1328del (p.Gly443GlufsTer?) c.1508del (p.Gly503GlufsTer?) c.1175del (p.Gly392GlufsTer?) n.221+1246del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117559489G>A | CA368984346 | CFTR,CFTR-AS1 | c.1418G>A (p.Gly473Glu) c.*1132G>A (n.*1132G>A) c.1235G>A (p.Gly412Glu) c.1413G>A (p.Gly471=) c.*1242G>A (n.*1242G>A) c.992G>A (p.Gly331Glu) c.1328G>A (p.Gly443Glu) c.1508G>A (p.Gly503Glu) c.1175G>A (p.Gly392Glu) n.221+1244C>T | COSMIC |
| 7 | g.117559489G>C | CA368984349 | CFTR,CFTR-AS1 | c.1418G>C (p.Gly473Ala) c.*1132G>C (n.*1132G>C) c.1235G>C (p.Gly412Ala) c.1413G>C (p.Gly471=) c.*1242G>C (n.*1242G>C) c.992G>C (p.Gly331Ala) c.1328G>C (p.Gly443Ala) c.1508G>C (p.Gly503Ala) c.1175G>C (p.Gly392Ala) n.221+1244C>G | |
| 7 | g.117559489G>T | CA368984347 | CFTR,CFTR-AS1 | c.1418G>T (p.Gly473Val) c.*1132G>T (n.*1132G>T) c.1235G>T (p.Gly412Val) c.1413G>T (p.Gly471=) c.*1242G>T (n.*1242G>T) c.992G>T (p.Gly331Val) c.1328G>T (p.Gly443Val) c.1508G>T (p.Gly503Val) c.1175G>T (p.Gly392Val) n.221+1244C>A | |
| 7 | g.117559490A>C | CA457228754 | CFTR,CFTR-AS1 | c.1419A>C (p.Gly473=) c.*1133A>C (n.*1133A>C) c.1236A>C (p.Gly412=) c.1414A>C (p.Arg472=) c.*1243A>C (n.*1243A>C) c.993A>C (p.Gly331=) c.1329A>C (p.Gly443=) c.1509A>C (p.Gly503=) c.1176A>C (p.Gly392=) n.221+1243T>G | |
| 7 | g.117559490A>G | CA457228753 | CFTR,CFTR-AS1 | c.1419A>G (p.Gly473=) c.*1133A>G (n.*1133A>G) c.1236A>G (p.Gly412=) c.1414A>G (p.Arg472Gly) c.*1243A>G (n.*1243A>G) c.993A>G (p.Gly331=) c.1329A>G (p.Gly443=) c.1509A>G (p.Gly503=) c.1176A>G (p.Gly392=) n.221+1243T>C | |
| 7 | g.117559490A>T | CA457228755 | CFTR,CFTR-AS1 | c.1419A>T (p.Gly473=) c.*1133A>T (n.*1133A>T) c.1236A>T (p.Gly412=) c.1414A>T (p.Arg472Ter) c.*1243A>T (n.*1243A>T) c.993A>T (p.Gly331=) c.1329A>T (p.Gly443=) c.1509A>T (p.Gly503=) c.1176A>T (p.Gly392=) n.221+1243T>A | |
| 7 | g.117559491G>A | CA164967631 | CFTR,CFTR-AS1 | c.1420G>A (p.Glu474Lys) c.*1134G>A (n.*1134G>A) c.1237G>A (p.Glu413Lys) c.1415G>A (p.Arg472Lys) c.*1244G>A (n.*1244G>A) c.994G>A (p.Glu332Lys) c.1330G>A (p.Glu444Lys) c.1510G>A (p.Glu504Lys) c.1177G>A (p.Glu393Lys) n.221+1242C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.117559491G>C | CA4451003 | CFTR,CFTR-AS1 | c.1420G>C (p.Glu474Gln) c.*1134G>C (n.*1134G>C) c.1237G>C (p.Glu413Gln) c.1415G>C (p.Arg472Thr) c.*1244G>C (n.*1244G>C) c.994G>C (p.Glu332Gln) c.1330G>C (p.Glu444Gln) c.1510G>C (p.Glu504Gln) c.1177G>C (p.Glu393Gln) n.221+1242C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117559491G= | CA1737384170 | CFTR,CFTR-AS1 | c.1420G= (p.Glu474=) c.*1134G= (n.*1134G=) c.1237G= (p.Glu413=) c.1415G= (p.Arg472=) c.*1244G= (n.*1244G=) c.994G= (p.Glu332=) c.1330G= (p.Glu444=) c.1510G= (p.Glu504=) c.1177G= (p.Glu393=) n.221+1242C= | |
| 7 | g.117559491G>T | CA368984352 | CFTR,CFTR-AS1 | c.1420G>T (p.Glu474Ter) c.*1134G>T (n.*1134G>T) c.1237G>T (p.Glu413Ter) c.1415G>T (p.Arg472Ile) c.*1244G>T (n.*1244G>T) c.994G>T (p.Glu332Ter) c.1330G>T (p.Glu444Ter) c.1510G>T (p.Glu504Ter) c.1177G>T (p.Glu393Ter) n.221+1242C>A | ClinVar dbSNP |
| 7 | g.117559492A= | CA1737384180 | CFTR,CFTR-AS1 | c.1421A= (p.Glu474=) c.*1135A= (n.*1135A=) c.1238A= (p.Glu413=) c.1416A= (p.Arg472=) c.*1245A= (n.*1245A=) c.995A= (p.Glu332=) c.1331A= (p.Glu444=) c.1511A= (p.Glu504=) c.1178A= (p.Glu393=) n.221+1241T= | |
| 7 | g.117559492A>C | CA368984353 | CFTR,CFTR-AS1 | c.1421A>C (p.Glu474Ala) c.*1135A>C (n.*1135A>C) c.1238A>C (p.Glu413Ala) c.1416A>C (p.Arg472Ser) c.*1245A>C (n.*1245A>C) c.995A>C (p.Glu332Ala) c.1331A>C (p.Glu444Ala) c.1511A>C (p.Glu504Ala) c.1178A>C (p.Glu393Ala) n.221+1241T>G | |
| 7 | g.117559492A>G | CA368984355 | CFTR,CFTR-AS1 | c.1421A>G (p.Glu474Gly) c.*1135A>G (n.*1135A>G) c.1238A>G (p.Glu413Gly) c.1416A>G (p.Arg472=) c.*1245A>G (n.*1245A>G) c.995A>G (p.Glu332Gly) c.1331A>G (p.Glu444Gly) c.1511A>G (p.Glu504Gly) c.1178A>G (p.Glu393Gly) n.221+1241T>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117559492A>T | CA368984356 | CFTR,CFTR-AS1 | c.1421A>T (p.Glu474Val) c.*1135A>T (n.*1135A>T) c.1238A>T (p.Glu413Val) c.1416A>T (p.Arg472Ser) c.*1245A>T (n.*1245A>T) c.995A>T (p.Glu332Val) c.1331A>T (p.Glu444Val) c.1511A>T (p.Glu504Val) c.1178A>T (p.Glu393Val) n.221+1241T>A | |
| 7 | g.117559493A= | CA1737384185 | CFTR,CFTR-AS1 | c.1422A= (p.Glu474=) c.*1136A= (n.*1136A=) c.1239A= (p.Glu413=) c.1417A= (p.Thr473=) c.*1246A= (n.*1246A=) c.996A= (p.Glu332=) c.1332A= (p.Glu444=) c.1512A= (p.Glu504=) c.1179A= (p.Glu393=) n.221+1240T= | |
| 7 | g.117559493A>C | CA368984357 | CFTR,CFTR-AS1 | c.1422A>C (p.Glu474Asp) c.*1136A>C (n.*1136A>C) c.1239A>C (p.Glu413Asp) c.1417A>C (p.Thr473Pro) c.*1246A>C (n.*1246A>C) c.996A>C (p.Glu332Asp) c.1332A>C (p.Glu444Asp) c.1512A>C (p.Glu504Asp) c.1179A>C (p.Glu393Asp) n.221+1240T>G | |
| 7 | g.117559493A>G | CA457228756 | CFTR,CFTR-AS1 | c.1422A>G (p.Glu474=) c.*1136A>G (n.*1136A>G) c.1239A>G (p.Glu413=) c.1417A>G (p.Thr473Ala) c.*1246A>G (n.*1246A>G) c.996A>G (p.Glu332=) c.1332A>G (p.Glu444=) c.1512A>G (p.Glu504=) c.1179A>G (p.Glu393=) n.221+1240T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117559493A>T | CA368984358 | CFTR,CFTR-AS1 | c.1422A>T (p.Glu474Asp) c.*1136A>T (n.*1136A>T) c.1239A>T (p.Glu413Asp) c.1417A>T (p.Thr473Ser) c.*1246A>T (n.*1246A>T) c.996A>T (p.Glu332Asp) c.1332A>T (p.Glu444Asp) c.1512A>T (p.Glu504Asp) c.1179A>T (p.Glu393Asp) n.221+1240T>A | |
| 7 | g.117559494del | CA2695199618 | CFTR,CFTR-AS1 | c.1423del (p.Leu475TrpfsTer?) c.*1137del (n.*1137del) c.1240del (p.Leu414TrpfsTer?) c.1418del (p.Thr473MetfsTer?) c.*1247del (n.*1247del) c.997del (p.Leu333TrpfsTer?) c.1333del (p.Leu445TrpfsTer?) c.1513del (p.Leu505TrpfsTer?) c.1180del (p.Leu394TrpfsTer?) n.221+1239del | ClinVar |
| 7 | g.117559494C>A | CA368984360 | CFTR,CFTR-AS1 | c.1423C>A (p.Leu475Met) c.*1137C>A (n.*1137C>A) c.1240C>A (p.Leu414Met) c.1418C>A (p.Thr473Asn) c.*1247C>A (n.*1247C>A) c.997C>A (p.Leu333Met) c.1333C>A (p.Leu445Met) c.1513C>A (p.Leu505Met) c.1180C>A (p.Leu394Met) n.221+1239G>T | gnomAD v4 |
| 7 | g.117559494C>G | CA368984362 | CFTR,CFTR-AS1 | c.1423C>G (p.Leu475Val) c.*1137C>G (n.*1137C>G) c.1240C>G (p.Leu414Val) c.1418C>G (p.Thr473Ser) c.*1247C>G (n.*1247C>G) c.997C>G (p.Leu333Val) c.1333C>G (p.Leu445Val) c.1513C>G (p.Leu505Val) c.1180C>G (p.Leu394Val) n.221+1239G>C | ClinVar |
| 7 | g.117559494C>T | CA457228757 | CFTR,CFTR-AS1 | c.1423C>T (p.Leu475=) c.*1137C>T (n.*1137C>T) c.1240C>T (p.Leu414=) c.1418C>T (p.Thr473Ile) c.*1247C>T (n.*1247C>T) c.997C>T (p.Leu333=) c.1333C>T (p.Leu445=) c.1513C>T (p.Leu505=) c.1180C>T (p.Leu394=) n.221+1239G>A | ClinVar |
| 7 | g.117559495T>A | CA368984365 | CFTR,CFTR-AS1 | c.1424T>A (p.Leu475Gln) c.*1138T>A (n.*1138T>A) c.1241T>A (p.Leu414Gln) c.1419T>A (p.Thr473=) c.*1248T>A (n.*1248T>A) c.998T>A (p.Leu333Gln) c.1334T>A (p.Leu445Gln) c.1514T>A (p.Leu505Gln) c.1181T>A (p.Leu394Gln) n.221+1238A>T | |
| 7 | g.117559495T>C | CA368984367 | CFTR,CFTR-AS1 | c.1424T>C (p.Leu475Pro) c.*1138T>C (n.*1138T>C) c.1241T>C (p.Leu414Pro) c.1419T>C (p.Thr473=) c.*1248T>C (n.*1248T>C) c.998T>C (p.Leu333Pro) c.1334T>C (p.Leu445Pro) c.1514T>C (p.Leu505Pro) c.1181T>C (p.Leu394Pro) n.221+1238A>G | |
| 7 | g.117559495T>G | CA368984364 | CFTR,CFTR-AS1 | c.1424T>G (p.Leu475Arg) c.*1138T>G (n.*1138T>G) c.1241T>G (p.Leu414Arg) c.1419T>G (p.Thr473=) c.*1248T>G (n.*1248T>G) c.998T>G (p.Leu333Arg) c.1334T>G (p.Leu445Arg) c.1514T>G (p.Leu505Arg) c.1181T>G (p.Leu394Arg) n.221+1238A>C | |
| 7 | g.117559496G>A | CA457228758 | CFTR,CFTR-AS1 | c.1425G>A (p.Leu475=) c.*1139G>A (n.*1139G>A) c.1242G>A (p.Leu414=) c.1420G>A (p.Gly474Arg) c.*1249G>A (n.*1249G>A) c.999G>A (p.Leu333=) c.1335G>A (p.Leu445=) c.1515G>A (p.Leu505=) c.1182G>A (p.Leu394=) n.221+1237C>T | COSMIC |
| 7 | g.117559496G>C | CA457228760 | CFTR,CFTR-AS1 | c.1425G>C (p.Leu475=) c.*1139G>C (n.*1139G>C) c.1242G>C (p.Leu414=) c.1420G>C (p.Gly474Arg) c.*1249G>C (n.*1249G>C) c.999G>C (p.Leu333=) c.1335G>C (p.Leu445=) c.1515G>C (p.Leu505=) c.1182G>C (p.Leu394=) n.221+1237C>G | |
| 7 | g.117559496G= | CA1737384188 | CFTR,CFTR-AS1 | c.1425G= (p.Leu475=) c.*1139G= (n.*1139G=) c.1242G= (p.Leu414=) c.1420G= (p.Gly474=) c.*1249G= (n.*1249G=) c.999G= (p.Leu333=) c.1335G= (p.Leu445=) c.1515G= (p.Leu505=) c.1182G= (p.Leu394=) n.221+1237C= | |
| 7 | g.117559496G>T | CA457228759 | CFTR,CFTR-AS1 | c.1425G>T (p.Leu475=) c.*1139G>T (n.*1139G>T) c.1242G>T (p.Leu414=) c.1420G>T (p.Gly474Ter) c.*1249G>T (n.*1249G>T) c.999G>T (p.Leu333=) c.1335G>T (p.Leu445=) c.1515G>T (p.Leu505=) c.1182G>T (p.Leu394=) n.221+1237C>A | dbSNP |
| 7 | g.117559497G>A | CA368984371 | CFTR,CFTR-AS1 | c.1426G>A (p.Glu476Lys) c.*1140G>A (n.*1140G>A) c.1243G>A (p.Glu415Lys) c.1421G>A (p.Gly474Glu) c.*1250G>A (n.*1250G>A) c.1000G>A (p.Glu334Lys) c.1336G>A (p.Glu446Lys) c.1516G>A (p.Glu506Lys) c.1183G>A (p.Glu395Lys) n.221+1236C>T | |
| 7 | g.117559497G>C | CA368984368 | CFTR,CFTR-AS1 | c.1426G>C (p.Glu476Gln) c.*1140G>C (n.*1140G>C) c.1243G>C (p.Glu415Gln) c.1421G>C (p.Gly474Ala) c.*1250G>C (n.*1250G>C) c.1000G>C (p.Glu334Gln) c.1336G>C (p.Glu446Gln) c.1516G>C (p.Glu506Gln) c.1183G>C (p.Glu395Gln) n.221+1236C>G | |
| 7 | g.117559497G>T | CA368984369 | CFTR,CFTR-AS1 | c.1426G>T (p.Glu476Ter) c.*1140G>T (n.*1140G>T) c.1243G>T (p.Glu415Ter) c.1421G>T (p.Gly474Val) c.*1250G>T (n.*1250G>T) c.1000G>T (p.Glu334Ter) c.1336G>T (p.Glu446Ter) c.1516G>T (p.Glu506Ter) c.1183G>T (p.Glu395Ter) n.221+1236C>A | |
| 7 | g.117559500_117559508del | CA2695208318 | CFTR,CFTR-AS1 | c.1429_1437del (p.Pro477_Glu479del) c.*1143_*1151del (n.*1143_*1151del) c.1246_1254del (p.Pro416_Glu418del) c.1424_1432del (p.Ala475_Arg477del) c.*1253_*1261del (n.*1253_*1261del) c.1003_1011del (p.Pro335_Glu337del) c.1339_1347del (p.Pro447_Glu449del) c.1519_1527del (p.Pro507_Glu509del) c.1186_1194del (p.Pro396_Glu398del) n.221+1228_221+1236del | |
| 7 | g.117559498A>C | CA368984372 | CFTR,CFTR-AS1 | c.1427A>C (p.Glu476Ala) c.*1141A>C (n.*1141A>C) c.1244A>C (p.Glu415Ala) c.1422A>C (p.Gly474=) c.*1251A>C (n.*1251A>C) c.1001A>C (p.Glu334Ala) c.1337A>C (p.Glu446Ala) c.1517A>C (p.Glu506Ala) c.1184A>C (p.Glu395Ala) n.221+1235T>G | |
| 7 | g.117559498A>G | CA368984374 | CFTR,CFTR-AS1 | c.1427A>G (p.Glu476Gly) c.*1141A>G (n.*1141A>G) c.1244A>G (p.Glu415Gly) c.1422A>G (p.Gly474=) c.*1251A>G (n.*1251A>G) c.1001A>G (p.Glu334Gly) c.1337A>G (p.Glu446Gly) c.1517A>G (p.Glu506Gly) c.1184A>G (p.Glu395Gly) n.221+1235T>C | |
| 7 | g.117559498A>T | CA368984376 | CFTR,CFTR-AS1 | c.1427A>T (p.Glu476Val) c.*1141A>T (n.*1141A>T) c.1244A>T (p.Glu415Val) c.1422A>T (p.Gly474=) c.*1251A>T (n.*1251A>T) c.1001A>T (p.Glu334Val) c.1337A>T (p.Glu446Val) c.1517A>T (p.Glu506Val) c.1184A>T (p.Glu395Val) n.221+1235T>A | |
| 7 | g.117559499G>A | CA457228761 | CFTR,CFTR-AS1 | c.1428G>A (p.Glu476=) c.*1142G>A (n.*1142G>A) c.1245G>A (p.Glu415=) c.1423G>A (p.Ala475Thr) c.*1252G>A (n.*1252G>A) c.1002G>A (p.Glu334=) c.1338G>A (p.Glu446=) c.1518G>A (p.Glu506=) c.1185G>A (p.Glu395=) n.221+1234C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117559499G>C | CA368984377 | CFTR,CFTR-AS1 | c.1428G>C (p.Glu476Asp) c.*1142G>C (n.*1142G>C) c.1245G>C (p.Glu415Asp) c.1423G>C (p.Ala475Pro) c.*1252G>C (n.*1252G>C) c.1002G>C (p.Glu334Asp) c.1338G>C (p.Glu446Asp) c.1518G>C (p.Glu506Asp) c.1185G>C (p.Glu395Asp) n.221+1234C>G | |
| 7 | g.117559499G= | CA1737384191 | CFTR,CFTR-AS1 | c.1428G= (p.Glu476=) c.*1142G= (n.*1142G=) c.1245G= (p.Glu415=) c.1423G= (p.Ala475=) c.*1252G= (n.*1252G=) c.1002G= (p.Glu334=) c.1338G= (p.Glu446=) c.1518G= (p.Glu506=) c.1185G= (p.Glu395=) n.221+1234C= | |
| 7 | g.117559499G>T | CA368984379 | CFTR,CFTR-AS1 | c.1428G>T (p.Glu476Asp) c.*1142G>T (n.*1142G>T) c.1245G>T (p.Glu415Asp) c.1423G>T (p.Ala475Ser) c.*1252G>T (n.*1252G>T) c.1002G>T (p.Glu334Asp) c.1338G>T (p.Glu446Asp) c.1518G>T (p.Glu506Asp) c.1185G>T (p.Glu395Asp) n.221+1234C>A | |
| 7 | g.117559500C>A | CA368984381 | CFTR,CFTR-AS1 | c.1429C>A (p.Pro477Thr) c.*1143C>A (n.*1143C>A) c.1246C>A (p.Pro416Thr) c.1424C>A (p.Ala475Asp) c.*1253C>A (n.*1253C>A) c.1003C>A (p.Pro335Thr) c.1339C>A (p.Pro447Thr) c.1519C>A (p.Pro507Thr) c.1186C>A (p.Pro396Thr) n.221+1233G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117559500C= | CA1737384202 | CFTR,CFTR-AS1 | c.1429C= (p.Pro477=) c.*1143C= (n.*1143C=) c.1246C= (p.Pro416=) c.1424C= (p.Ala475=) c.*1253C= (n.*1253C=) c.1003C= (p.Pro335=) c.1339C= (p.Pro447=) c.1519C= (p.Pro507=) c.1186C= (p.Pro396=) n.221+1233G= | |
| 7 | g.117559500C>G | CA368984382 | CFTR,CFTR-AS1 | c.1429C>G (p.Pro477Ala) c.*1143C>G (n.*1143C>G) c.1246C>G (p.Pro416Ala) c.1424C>G (p.Ala475Gly) c.*1253C>G (n.*1253C>G) c.1003C>G (p.Pro335Ala) c.1339C>G (p.Pro447Ala) c.1519C>G (p.Pro507Ala) c.1186C>G (p.Pro396Ala) n.221+1233G>C | dbSNP gnomAD v4 |
| 7 | g.117559500C>T | CA4451004 | CFTR,CFTR-AS1 | c.1429C>T (p.Pro477Ser) c.*1143C>T (n.*1143C>T) c.1246C>T (p.Pro416Ser) c.1424C>T (p.Ala475Val) c.*1253C>T (n.*1253C>T) c.1003C>T (p.Pro335Ser) c.1339C>T (p.Pro447Ser) c.1519C>T (p.Pro507Ser) c.1186C>T (p.Pro396Ser) n.221+1233G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117559501C>A | CA10606584 | CFTR,CFTR-AS1 | c.1430C>A (p.Pro477His) c.*1144C>A (n.*1144C>A) c.1247C>A (p.Pro416His) c.1425C>A (p.Ala475=) c.*1254C>A (n.*1254C>A) c.1004C>A (p.Pro335His) c.1340C>A (p.Pro447His) c.1520C>A (p.Pro507His) c.1187C>A (p.Pro396His) n.221+1232G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117559501C= | CA1737384214 | CFTR,CFTR-AS1 | c.1430C= (p.Pro477=) c.*1144C= (n.*1144C=) c.1247C= (p.Pro416=) c.1425C= (p.Ala475=) c.*1254C= (n.*1254C=) c.1004C= (p.Pro335=) c.1340C= (p.Pro447=) c.1520C= (p.Pro507=) c.1187C= (p.Pro396=) n.221+1232G= | |
| 7 | g.117559501C>G | CA368984386 | CFTR,CFTR-AS1 | c.1430C>G (p.Pro477Arg) c.*1144C>G (n.*1144C>G) c.1247C>G (p.Pro416Arg) c.1425C>G (p.Ala475=) c.*1254C>G (n.*1254C>G) c.1004C>G (p.Pro335Arg) c.1340C>G (p.Pro447Arg) c.1520C>G (p.Pro507Arg) c.1187C>G (p.Pro396Arg) n.221+1232G>C | |
| 7 | g.117559501C>T | CA368984387 | CFTR,CFTR-AS1 | c.1430C>T (p.Pro477Leu) c.*1144C>T (n.*1144C>T) c.1247C>T (p.Pro416Leu) c.1425C>T (p.Ala475=) c.*1254C>T (n.*1254C>T) c.1004C>T (p.Pro335Leu) c.1340C>T (p.Pro447Leu) c.1520C>T (p.Pro507Leu) c.1187C>T (p.Pro396Leu) n.221+1232G>A | ClinVar dbSNP |