NM_000127.3(EXT1):c.1537-51A>G
|
rs10955837
|
0.50801
|
NM_000127.3(EXT1):c.1722+202T>C
|
rs10955835
|
0.47020
|
NM_000127.3(EXT1):c.1633-154G>A
|
rs4382503
|
0.38686
|
NM_000127.3(EXT1):c.1761G>A (p.Glu587=)
|
rs7837891
|
0.36094
|
NM_000127.3(EXT1):c.1285-116G>A
|
rs4355803
|
0.27438
|
NM_000127.3(EXT1):c.1537-125G>A
|
rs4876757
|
0.26405
|
NM_000127.3(EXT1):c.1056+201A>G
|
rs17452694
|
0.25325
|
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)
|
rs11546829
|
0.23625
|
NM_000127.3(EXT1):c.1165-156G>T
|
rs9642837
|
0.23193
|
NM_000127.3(EXT1):c.1285-301C>T
|
rs4366105
|
0.22457
|
NM_000127.3(EXT1):c.1431C>T (p.Pro477=)
|
rs17439693
|
0.17547
|
NM_000127.3(EXT1):c.1536+261A>G
|
rs2067866
|
0.10658
|
NM_000127.3(EXT1):c.1537-223A>G
|
rs10102974
|
0.10270
|
NM_000127.3(EXT1):c.1417+220T>G
|
rs10107623
|
0.09036
|
NM_000127.3(EXT1):c.1284+285C>T
|
rs17503377
|
0.09008
|
NM_000127.3(EXT1):c.1723-103C>G
|
rs17479145
|
0.08924
|
NM_000127.3(EXT1):c.-266C>T
|
rs76805972
|
0.04072
|
NM_000127.3(EXT1):c.962+78del
|
rs112373962
|
0.03380
|
NM_000127.2(EXT1):c.-774C>G
|
rs112317221
|
0.02171
|
NM_000127.3(EXT1):c.114A>G (p.Glu38=)
|
rs17506447
|
0.01623
|
NM_000127.3(EXT1):c.1164+220A>G
|
rs56857154
|
0.01231
|
NM_000127.3(EXT1):c.1284+127T>C
|
rs17503384
|
0.00931
|
NM_000127.3(EXT1):c.1537-201C>G
|
rs149824224
|
0.00870
|
NM_000127.3(EXT1):c.117A>G (p.Glu39=)
|
rs78429222
|
0.00558
|
NM_000127.3(EXT1):c.963-45T>C
|
rs17503481
|
0.00411
|
NM_000127.3(EXT1):c.1959G>A (p.Glu653=)
|
rs142710059
|
0.00404
|
NM_000127.3(EXT1):c.1782G>A (p.Ala594=)
|
rs61753261
|
0.00058
|
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile)
|
rs61753260
|
0.00024
|
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp)
|
rs142122090
|
0.00009
|
NM_000127.3(EXT1):c.591C>T (p.Ser197=)
|
rs770795716
|
0.00004
|
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val)
|
rs773539946
|
0.00001
|
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu)
|
rs1385688129
|
0.00001
|
NM_000127.3(EXT1):c.*144del
|
rs71739430
|
|
NM_000127.3(EXT1):c.*144dup
|
rs71739430
|
|
NM_000127.3(EXT1):c.1015_1017del (p.Gly339del)
|
rs1057518031
|
|
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
|
rs978347552
|
|
NM_000127.3(EXT1):c.1056+1G>T
|
rs886039354
|
|
NM_000127.3(EXT1):c.1057-2A>C
|
|
|
NM_000127.3(EXT1):c.1057-3C>G
|
|
|
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg)
|
rs1131691337
|
|
NM_000127.3(EXT1):c.1092G>A (p.Trp364Ter)
|
rs1554580035
|
|
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr)
|
rs1812173796
|
|
NM_000127.3(EXT1):c.1147G>T (p.Glu383Ter)
|
rs1057520535
|
|
NM_000127.3(EXT1):c.115del (p.Glu39fs)
|
rs1586280217
|
|
NM_000127.3(EXT1):c.1164+1del
|
rs1057518623
|
|
NM_000127.3(EXT1):c.1165-121A>G
|
rs17503398
|
|
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs)
|
rs1369118661
|
|
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
|
|
|
NM_000127.3(EXT1):c.1235G>A (p.Trp412Ter)
|
rs1563573730
|
|
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter)
|
rs1587001428
|
|
NM_000127.3(EXT1):c.1237del (p.Glu413fs)
|
|
|
NM_000127.3(EXT1):c.1323_1324del (p.Asn441fs)
|
rs1586997875
|
|
NM_000127.3(EXT1):c.1333T>C (p.Trp445Arg)
|
rs1554579012
|
|
NM_000127.3(EXT1):c.1417+1G>T
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1431del (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1431dup (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1461_1465del (p.Thr488fs)
|
rs1586996629
|
|
NM_000127.3(EXT1):c.1468del (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1468dup (p.Leu490fs)
|
rs886039355
|
|
NM_000127.3(EXT1):c.1469del (p.Leu490fs)
|
rs886039356
|
|
NM_000127.3(EXT1):c.1536+1G>A
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1536+91_1536+99del
|
rs35834568
|
|
NM_000127.3(EXT1):c.1537-149C>G
|
rs17430063
|
|
NM_000127.3(EXT1):c.1537-2A>C
|
rs1554578710
|
|
NM_000127.3(EXT1):c.1557T>A (p.Cys519Ter)
|
rs1554578706
|
|
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs)
|
rs1554657927
|
|
NM_000127.3(EXT1):c.1726_1727insT (p.Asp576fs)
|
rs1064794137
|
|
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter)
|
rs1586990398
|
|
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter)
|
rs1554657437
|
|
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter)
|
rs886039357
|
|
NM_000127.3(EXT1):c.1884-137CAT[6]
|
rs369846524
|
|
NM_000127.3(EXT1):c.1884-1G>C
|
rs1131691623
|
|
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter)
|
rs1131692020
|
|
NM_000127.3(EXT1):c.2034T>G (p.Tyr678Ter)
|
rs1554657213
|
|
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)
|
rs1363815113
|
|
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter)
|
rs2129679879
|
|
NM_000127.3(EXT1):c.2191G>C (p.Asp731His)
|
rs2129679539
|
|
NM_000127.3(EXT1):c.2233C>T (p.Arg745Ter)
|
rs756691505
|
|
NM_000127.3(EXT1):c.237C>A (p.His79Gln)
|
|
|
NM_000127.3(EXT1):c.247del (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.247dup (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)
|
rs1064793753
|
|
NM_000127.3(EXT1):c.256C>A (p.Arg86=)
|
rs760899584
|
|
NM_000127.3(EXT1):c.313del (p.Asp105fs)
|
rs1554601550
|
|
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)
|
rs119103289
|
|
NM_000127.3(EXT1):c.362del (p.Gln121fs)
|
rs1064793465
|
|
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter)
|
rs1554601534
|
|
NM_000127.3(EXT1):c.45_46del (p.Cys16fs)
|
rs2130045941
|
|
NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
|
rs1817879125
|
|
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter)
|
rs886039561
|
|
NM_000127.3(EXT1):c.538_539del (p.Leu181fs)
|
rs886039486
|
|
NM_000127.3(EXT1):c.579dup (p.Asn194Ter)
|
rs1554601519
|
|
NM_000127.3(EXT1):c.61_62insAA (p.Phe21Ter)
|
rs1064795778
|
|
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter)
|
rs2130042549
|
|
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
|
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000127.3(EXT1):c.742del (p.Arg248fs)
|
|
|
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg)
|
rs1554601492
|
|
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu)
|
rs886039352
|
|
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys)
|
rs1064793786
|
|
NM_000127.3(EXT1):c.819_820del (p.Gly274fs)
|
rs886041699
|
|
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser)
|
rs1563659325
|
|
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter)
|
rs1057520608
|
|
NM_000127.3(EXT1):c.854dup (p.His285fs)
|
rs1554601476
|
|
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter)
|
rs1554601474
|
|
NM_000127.3(EXT1):c.917dup (p.His307fs)
|
rs1554601473
|
|
NM_000127.3(EXT1):c.962+1G>T
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+287A>G
|
rs3757991
|
|
NM_000127.3(EXT1):c.962+8_962+11del
|
rs138812713
|
|
NM_000127.3(EXT1):c.963-1G>C
|
rs1554580160
|
|
NM_000127.3(EXT1):c.972T>A (p.Tyr324Ter)
|
rs1554580158
|
|