NM_207122.2(EXT2):c.1425A>G (p.Glu475=)
|
rs533065326
|
0.00027
|
NM_207122.2(EXT2):c.1407C>T (p.Leu469=)
|
rs148753786
|
0.00011
|
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
|
rs146086025
|
0.00008
|
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)
|
rs141256266
|
0.00006
|
NM_207122.2(EXT2):c.1341G>A (p.Pro447=)
|
rs774039598
|
0.00005
|
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu)
|
rs772530256
|
0.00005
|
NM_207122.2(EXT2):c.1495+9C>G
|
rs768311130
|
0.00004
|
NM_207122.2(EXT2):c.1461C>T (p.Val487=)
|
rs150758739
|
0.00003
|
NM_207122.2(EXT2):c.1306-7C>G
|
rs771232346
|
0.00002
|
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly)
|
rs760086935
|
0.00002
|
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=)
|
rs1166915261
|
0.00002
|
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)
|
rs772690312
|
0.00002
|
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu)
|
rs1053473840
|
0.00001
|
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu)
|
rs1955475218
|
0.00001
|
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val)
|
rs779292816
|
0.00001
|
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser)
|
rs1360036719
|
0.00001
|
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser)
|
rs1590640131
|
0.00001
|
NC_000011.10:g.(?_44144227)_(44198038_?)del
|
|
|
NM_207122.2(EXT2):c.1306-13T>C
|
rs749657208
|
|
NM_207122.2(EXT2):c.1306-14C>A
|
|
|
NM_207122.2(EXT2):c.1306-14C>T
|
|
|
NM_207122.2(EXT2):c.1306-8T>C
|
|
|
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
|
|
|
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
|
|
|
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys)
|
rs775111831
|
|
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
|
|
|
NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)
|
|
|
NM_207122.2(EXT2):c.1338C>T (p.Leu446=)
|
rs1955474586
|
|
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
|
|
|
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
|
|
|
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
|
|
|
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
|
|
|
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
|
|
|
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
|
|
|
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
|
|
|
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
|
|
|
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
|
|
|
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
|
|
|
NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)
|
|
|
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
|
|
|
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
|
|
|
NM_207122.2(EXT2):c.1440C>T (p.Pro480=)
|
rs2135185399
|
|
NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)
|
|
|
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
|
|
|
NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)
|
|
|
NM_207122.2(EXT2):c.1458T>A (p.Leu486=)
|
rs1343630556
|
|
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
|
|
|
NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)
|
|
|
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg)
|
rs2135185580
|
|
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
|
|
|
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
|
|
|
NM_207122.2(EXT2):c.1489_1495+12del
|
|
|
NM_207122.2(EXT2):c.1495+12T>C
|
|
|
NM_207122.2(EXT2):c.1495+7dup
|
rs1376958816
|
|
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)
|
rs1314735230
|
|