NM_000127.3(EXT1):c.1633-2A>G
|
rs1233701691
|
0.00001
|
GRCh37/hg19 8q24.11(chr8:118721155-118839384)x1
|
|
|
GRCh37/hg19 8q24.11(chr8:118796828-118890987)
|
|
|
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
|
|
|
GRCh37/hg19 8q24.11(chr8:119102236-119147280)x1
|
|
|
NC_000008.10:g.(?_118803587)_(118819524_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118812156_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118834836_?)del
|
|
|
NC_000008.10:g.(?_118811951)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_118816941)_(118817152_?)del
|
|
|
NC_000008.10:g.(?_118819436)_(118825220_?)del
|
|
|
NC_000008.10:g.(?_118819436)_(118847810_?)del
|
|
|
NC_000008.10:g.(?_118825091)_(118825220_?)del
|
|
|
NC_000008.10:g.(?_118825208)_119035925del
|
|
|
NC_000008.10:g.(?_118830654)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_118842449)_(118842608_?)del
|
|
|
NC_000008.10:g.(?_118847663)_(118849460_?)del
|
|
|
NC_000008.10:g.(?_119122304)_(119123285_?)del
|
|
|
NC_000008.11:g.(?_117799692)_(117799917_?)del
|
|
|
NC_000008.11:g.(?_117799692)_(118111066_?)del
|
|
|
NC_000008.11:g.(?_117807197)_(117807397_?)del
|
|
|
NC_000008.11:g.(?_117812852)_(117837221_?)dup
|
|
|
NC_000008.11:g.(?_118110065)_(118111066_?)del
|
|
|
NM_000127.2(EXT1):c.1418del
|
rs1811893467
|
|
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg)
|
rs1812200901
|
|
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)
|
rs2129791225
|
|
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp)
|
rs119103288
|
|
NM_000127.3(EXT1):c.1016G>T (p.Gly339Val)
|
|
|
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly)
|
rs119103290
|
|
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.1019G>T (p.Arg340Leu)
|
rs119103287
|
|
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
|
rs978347552
|
|
NM_000127.3(EXT1):c.1036A>G (p.Arg346Gly)
|
rs1554580147
|
|
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile)
|
rs1812200035
|
|
NM_000127.3(EXT1):c.103del (p.Ser35fs)
|
rs1563659821
|
|
NM_000127.3(EXT1):c.1046_1047del (p.Glu349fs)
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|
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NM_000127.3(EXT1):c.1049_1056+1del
|
|
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NM_000127.3(EXT1):c.1052dup (p.Leu351fs)
|
rs2129790994
|
|
NM_000127.3(EXT1):c.1053_1056+1del
|
rs1563575654
|
|
NM_000127.3(EXT1):c.1056+1G>A
|
rs886039354
|
|
NM_000127.3(EXT1):c.1056+1G>T
|
rs886039354
|
|
NM_000127.3(EXT1):c.1056+2T>A
|
rs1554580142
|
|
NM_000127.3(EXT1):c.1056+3A>C
|
rs1554580140
|
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NM_000127.3(EXT1):c.1056G>T (p.Gln352His)
|
rs1812199676
|
|
NM_000127.3(EXT1):c.1057-1G>C
|
rs1587003661
|
|
NM_000127.3(EXT1):c.1057-2A>G
|
rs1587003662
|
|
NM_000127.3(EXT1):c.1057-2A>T
|
rs1587003662
|
|
NM_000127.3(EXT1):c.1063T>C (p.Cys355Arg)
|
rs1587003655
|
|
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)
|
rs2129786671
|
|
NM_000127.3(EXT1):c.1065C>A (p.Cys355Ter)
|
rs11546829
|
|
NM_000127.3(EXT1):c.1073dup (p.Met359fs)
|
rs2129786583
|
|
NM_000127.3(EXT1):c.1076dup (p.Met359fs)
|
rs2129786574
|
|
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
|
|
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NM_000127.3(EXT1):c.1092G>A (p.Trp364Ter)
|
rs1554580035
|
|
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter)
|
rs1812174128
|
|
NM_000127.3(EXT1):c.111del (p.Glu38fs)
|
rs1586280235
|
|
NM_000127.3(EXT1):c.1122G>A (p.Trp374Ter)
|
rs2129786370
|
|
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter)
|
rs1812173838
|
|
NM_000127.3(EXT1):c.1126del (p.Gln376fs)
|
rs2129786342
|
|
NM_000127.3(EXT1):c.1147G>T (p.Glu383Ter)
|
rs1057520535
|
|
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs)
|
rs1812173037
|
|
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter)
|
rs2129786157
|
|
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter)
|
rs1817891356
|
|
NM_000127.3(EXT1):c.115del (p.Glu39fs)
|
rs1586280217
|
|
NM_000127.3(EXT1):c.1162C>T (p.Gln388Ter)
|
rs2129786122
|
|
NM_000127.3(EXT1):c.1164+1G>A
|
rs2129786098
|
|
NM_000127.3(EXT1):c.1164+1G>T
|
|
|
NM_000127.3(EXT1):c.1165-1G>A
|
rs1812078423
|
|
NM_000127.3(EXT1):c.1165-1G>C
|
|
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NM_000127.3(EXT1):c.1165-2A>C
|
|
|
NM_000127.3(EXT1):c.1167del (p.Pro390fs)
|
rs1812078315
|
|
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)
|
rs561006425
|
|
NM_000127.3(EXT1):c.1193del (p.Gln398fs)
|
rs2129772368
|
|
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs)
|
rs1369118661
|
|
NM_000127.3(EXT1):c.1217del (p.Gln406fs)
|
rs2129772259
|
|
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter)
|
rs1812077342
|
|
NM_000127.3(EXT1):c.1220del (p.Gln407fs)
|
rs1812077295
|
|
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
|
|
|
NM_000127.3(EXT1):c.1234del (p.Trp412fs)
|
rs1812076996
|
|
NM_000127.3(EXT1):c.1235G>A (p.Trp412Ter)
|
rs1563573730
|
|
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs)
|
rs1812076915
|
|
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter)
|
rs1587001428
|
|
NM_000127.3(EXT1):c.1237del (p.Glu413fs)
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|
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NM_000127.3(EXT1):c.1249del (p.Ser417fs)
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NM_000127.3(EXT1):c.124_962+1815del
|
|
|
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter)
|
|
|
NM_000127.3(EXT1):c.1285-1G>C
|
rs1811943967
|
|
NM_000127.3(EXT1):c.1285-1G>T
|
rs1811943967
|
|
NM_000127.3(EXT1):c.1290_1297del (p.Ile430fs)
|
rs2129749657
|
|
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter)
|
rs1811943921
|
|
NM_000127.3(EXT1):c.1296del (p.Asp432fs)
|
|
|
NM_000127.3(EXT1):c.129del (p.Asn44fs)
|
rs1817890492
|
|
NM_000127.3(EXT1):c.1303_1304dup (p.Lys436fs)
|
rs2129749620
|
|
NM_000127.3(EXT1):c.1307dup (p.His437fs)
|
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter)
|
rs1563571318
|
|
NM_000127.3(EXT1):c.1316C>G (p.Ser439Ter)
|
rs1563571318
|
|
NM_000127.3(EXT1):c.1317dup (p.Arg440fs)
|
|
|
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter)
|
rs1811942900
|
|
NM_000127.3(EXT1):c.1323_1324del (p.Asn441fs)
|
rs1586997875
|
|
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter)
|
rs1811942574
|
|
NM_000127.3(EXT1):c.1350del (p.Gly451fs)
|
rs1811942117
|
|
NM_000127.3(EXT1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_000127.3(EXT1):c.1384_1388del (p.Leu462fs)
|
rs2129749144
|
|
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter)
|
rs1811941012
|
|
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter)
|
rs1811940928
|
|
NM_000127.3(EXT1):c.1401del (p.Tyr468fs)
|
rs1554579004
|
|
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter)
|
rs1811940837
|
|
NM_000127.3(EXT1):c.1405del (p.Tyr469fs)
|
rs1811940788
|
|
NM_000127.3(EXT1):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_000127.3(EXT1):c.1417+1G>A
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1417+1G>T
|
rs1586997796
|
|
NM_000127.3(EXT1):c.1417+1del
|
rs2129748931
|
|
NM_000127.3(EXT1):c.1417+2T>A
|
rs1554578992
|
|
NM_000127.3(EXT1):c.1418-1G>A
|
rs2129741436
|
|
NM_000127.3(EXT1):c.1418-2A>G
|
rs1554578802
|
|
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter)
|
rs1811893325
|
|
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter)
|
rs1811893325
|
|
NM_000127.3(EXT1):c.1424del (p.Lys475fs)
|
|
|
NM_000127.3(EXT1):c.1431del (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1431dup (p.Ser478fs)
|
rs1554578798
|
|
NM_000127.3(EXT1):c.1434_1440dup (p.Thr481fs)
|
rs1811892597
|
|
NM_000127.3(EXT1):c.1437del (p.Lys479fs)
|
|
|
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.1477C>T (p.Gln493Ter)
|
rs1811890821
|
|
NM_000127.3(EXT1):c.1508_1512del (p.Ala503fs)
|
|
|
NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter)
|
rs2129740737
|
|
NM_000127.3(EXT1):c.1522del (p.Gln508fs)
|
rs2129740749
|
|
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter)
|
rs1383256196
|
|
NM_000127.3(EXT1):c.1536+1G>A
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1536+1G>C
|
rs1811889441
|
|
NM_000127.3(EXT1):c.1537-1G>C
|
rs2129736985
|
|
NM_000127.3(EXT1):c.1537-2A>G
|
rs1554578710
|
|
NM_000127.3(EXT1):c.1550G>A (p.Trp517Ter)
|
|
|
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
|
rs1811865335
|
|
NM_000127.3(EXT1):c.1557T>A (p.Cys519Ter)
|
rs1554578706
|
|
NM_000127.3(EXT1):c.1567del (p.Leu523fs)
|
rs1811864784
|
|
NM_000127.3(EXT1):c.1575del (p.Lys526fs)
|
|
|
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter)
|
rs1563569983
|
|
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter)
|
|
|
NM_000127.3(EXT1):c.1587G>A (p.Trp529Ter)
|
rs763608530
|
|
NM_000127.3(EXT1):c.15dup (p.Arg6fs)
|
rs759834555
|
|
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter)
|
rs1811863055
|
|
NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter)
|
rs2129736434
|
|
NM_000127.3(EXT1):c.1632+1dup
|
rs1811862827
|
|
NM_000127.3(EXT1):c.1632+2T>G
|
|
|
NM_000127.3(EXT1):c.1633-1G>A
|
rs1823354043
|
|
NM_000127.3(EXT1):c.1633-1G>T
|
rs1823354043
|
|
NM_000127.3(EXT1):c.1633-34_1670del
|
rs1554657940
|
|
NM_000127.3(EXT1):c.1642del (p.Ser548fs)
|
|
|
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
|
rs1823353269
|
|
NM_000127.3(EXT1):c.1658dup (p.Tyr553Ter)
|
rs2129720355
|
|
NM_000127.3(EXT1):c.1659C>G (p.Tyr553Ter)
|
rs757115396
|
|
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer)
|
rs1823353089
|
|
NM_000127.3(EXT1):c.165G>A (p.Trp55Ter)
|
rs1586280132
|
|
NM_000127.3(EXT1):c.1664dup (p.Asn555fs)
|
rs1586993159
|
|
NM_000127.3(EXT1):c.1666dup (p.Ile556fs)
|
|
|
NM_000127.3(EXT1):c.1668_1680dup (p.Val561fs)
|
|
|
NM_000127.3(EXT1):c.1670_1687del (p.Ile557_Leu562del)
|
|
|
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs)
|
rs1823352329
|
|
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs)
|
rs1823351882
|
|
NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs)
|
rs1823352107
|
|
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs)
|
rs1823352107
|
|
NM_000127.3(EXT1):c.1685T>C (p.Leu562Pro)
|
|
|
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs)
|
rs1554657927
|
|
NM_000127.3(EXT1):c.1692dup (p.Asp565Ter)
|
rs2129720016
|
|
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter)
|
rs1586993117
|
|
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs)
|
rs1823350888
|
|
NM_000127.3(EXT1):c.1722+1G>A
|
|
|
NM_000127.3(EXT1):c.1722+1G>T
|
rs1823350857
|
|
NM_000127.3(EXT1):c.1722+2T>G
|
rs1823350795
|
|
NM_000127.3(EXT1):c.1722+2dup
|
|
|
NM_000127.3(EXT1):c.1723-2A>C
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1723-2A>T
|
rs1823255835
|
|
NM_000127.3(EXT1):c.1726_1727insT (p.Asp576fs)
|
rs1064794137
|
|
NM_000127.3(EXT1):c.1745G>A (p.Trp582Ter)
|
rs1586990402
|
|
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter)
|
rs1586990398
|
|
NM_000127.3(EXT1):c.1762dup (p.Arg588fs)
|
rs2129701760
|
|
NM_000127.3(EXT1):c.1767dup (p.Val590fs)
|
|
|
NM_000127.3(EXT1):c.176del (p.Pro59fs)
|
rs1817889027
|
|
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs)
|
rs1823254431
|
|
NM_000127.3(EXT1):c.1773del (p.Tyr592fs)
|
rs1586990361
|
|
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter)
|
rs1823254238
|
|
NM_000127.3(EXT1):c.1779del (p.Ala594fs)
|
rs2129701642
|
|
NM_000127.3(EXT1):c.1784_1785del (p.Arg595fs)
|
|
|
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter)
|
rs1823253698
|
|
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter)
|
rs1718310043
|
|
NM_000127.3(EXT1):c.1805_1806del (p.Asn601_Ser602insTer)
|
|
|
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter)
|
rs1823253516
|
|
NM_000127.3(EXT1):c.1807A>T (p.Lys603Ter)
|
|
|
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter)
|
rs1554657437
|
|
NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter)
|
rs1586990317
|
|
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter)
|
rs1823253080
|
|
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
|
rs1823253013
|
|
NM_000127.3(EXT1):c.1819_1820del (p.Gly607fs)
|
|
|
NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter)
|
rs2129701251
|
|
NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter)
|
|
|
NM_000127.3(EXT1):c.1836G>A (p.Trp612Ter)
|
rs2129701239
|
|
NM_000127.3(EXT1):c.1844dup (p.Asp615fs)
|
|
|
NM_000127.3(EXT1):c.1845del (p.Tyr616fs)
|
rs2129701119
|
|
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
|
rs1563873580
|
|
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter)
|
rs886039357
|
|
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter)
|
rs2129700894
|
|
NM_000127.3(EXT1):c.1883+1G>A
|
rs1823251265
|
|
NM_000127.3(EXT1):c.1883+1G>T
|
rs1823251265
|
|
NM_000127.3(EXT1):c.1883+2T>C
|
rs1823251224
|
|
NM_000127.3(EXT1):c.1884-1G>A
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1884-1G>C
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1884-1G>T
|
rs1131691623
|
|
NM_000127.3(EXT1):c.1884-2A>G
|
|
|
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs)
|
rs1823215251
|
|
NM_000127.3(EXT1):c.1888dup (p.Tyr630fs)
|
|
|
NM_000127.3(EXT1):c.1900_1901insGG (p.Tyr634fs)
|
|
|
NM_000127.3(EXT1):c.1902C>G (p.Tyr634Ter)
|
rs2129694149
|
|
NM_000127.3(EXT1):c.1906del (p.His636fs)
|
rs2129694129
|
|
NM_000127.3(EXT1):c.1909dup (p.Tyr637fs)
|
|
|
NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter)
|
rs1586989220
|
|
NM_000127.3(EXT1):c.1925del (p.Leu642fs)
|
rs1823214768
|
|
NM_000127.3(EXT1):c.1944del (p.Gln648fs)
|
rs1586989202
|
|
NM_000127.3(EXT1):c.194del (p.Phe65fs)
|
|
|
NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs)
|
rs1586989189
|
|
NM_000127.3(EXT1):c.1952del (p.Asn651fs)
|
|
|
NM_000127.3(EXT1):c.1965del (p.Leu656fs)
|
rs1823213816
|
|
NM_000127.3(EXT1):c.1971del (p.Met657fs)
|
rs1823213767
|
|
NM_000127.3(EXT1):c.1998dup (p.Leu667fs)
|
rs2129693616
|
|
NM_000127.3(EXT1):c.1A>C (p.Met1Leu)
|
|
|
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter)
|
rs1131692020
|
|
NM_000127.3(EXT1):c.2004del (p.Pro669fs)
|
rs1563872934
|
|
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter)
|
rs1823212809
|
|
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter)
|
rs1823212774
|
|
NM_000127.3(EXT1):c.202dup (p.Trp68fs)
|
|
|
NM_000127.3(EXT1):c.2034T>G (p.Tyr678Ter)
|
rs1554657213
|
|
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter)
|
rs2130044984
|
|
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs)
|
rs1823212594
|
|
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter)
|
rs1823212414
|
|
NM_000127.3(EXT1):c.2055+52_*298del
|
|
|
NM_000127.3(EXT1):c.2059del (p.Ser687fs)
|
rs1554656288
|
|
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
|
rs1823138986
|
|
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter)
|
rs1817887343
|
|
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)
|
rs1363815113
|
|
NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter)
|
rs1554656266
|
|
NM_000127.3(EXT1):c.2115del (p.Met705fs)
|
rs1823137578
|
|
NM_000127.3(EXT1):c.2119dup (p.Thr707fs)
|
rs1823137520
|
|
NM_000127.3(EXT1):c.2131del (p.Trp711fs)
|
rs2129679904
|
|
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter)
|
rs786205593
|
|
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter)
|
rs2129679879
|
|
NM_000127.3(EXT1):c.218del (p.Asn73fs)
|
rs1554601568
|
|
NM_000127.3(EXT1):c.247del (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.247dup (p.Arg83fs)
|
rs1554601559
|
|
NM_000127.3(EXT1):c.249dup (p.Gln84fs)
|
|
|
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)
|
rs1064793753
|
|
NM_000127.3(EXT1):c.256C>T (p.Arg86Ter)
|
|
|
NM_000127.3(EXT1):c.266dup (p.Asn89fs)
|
rs1817885411
|
|
NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs)
|
rs1586279952
|
|
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter)
|
rs1227875610
|
|
NM_000127.3(EXT1):c.282dup (p.Gly95fs)
|
rs1563659649
|
|
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter)
|
rs1817884837
|
|
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs)
|
rs2130044431
|
|
NM_000127.3(EXT1):c.287del (p.Lys96fs)
|
rs1817884791
|
|
NM_000127.3(EXT1):c.293del (p.Cys98fs)
|
rs2130044416
|
|
NM_000127.3(EXT1):c.313del (p.Asp105fs)
|
rs1554601550
|
|
NM_000127.3(EXT1):c.331A>T (p.Lys111Ter)
|
|
|
NM_000127.3(EXT1):c.335del (p.Asn112fs)
|
|
|
NM_000127.3(EXT1):c.345dup (p.Val116fs)
|
|
|
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter)
|
rs982804750
|
|
NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)
|
|
|
NM_000127.3(EXT1):c.357C>A (p.Tyr119Ter)
|
rs119103289
|
|
NM_000127.3(EXT1):c.357C>G (p.Tyr119Ter)
|
|
|
NM_000127.3(EXT1):c.360dup (p.Gln121fs)
|
rs1817882619
|
|
NM_000127.3(EXT1):c.361C>T (p.Gln121Ter)
|
rs2130043930
|
|
NM_000127.3(EXT1):c.362del (p.Gln121fs)
|
rs1064793465
|
|
NM_000127.3(EXT1):c.364C>T (p.Gln122Ter)
|
rs1586279835
|
|
NM_000127.3(EXT1):c.369_370del (p.Lys126fs)
|
rs2130043872
|
|
NM_000127.3(EXT1):c.373G>T (p.Glu125Ter)
|
|
|
NM_000127.3(EXT1):c.373del (p.Glu125fs)
|
|
|
NM_000127.3(EXT1):c.373dup (p.Glu125fs)
|
rs2130043834
|
|
NM_000127.3(EXT1):c.379del (p.Ile127fs)
|
|
|
NM_000127.3(EXT1):c.385G>T (p.Glu129Ter)
|
|
|
NM_000127.3(EXT1):c.392dup (p.Tyr131Ter)
|
rs1817881221
|
|
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)
|
rs2130043699
|
|
NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter)
|
rs2130043699
|
|
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer)
|
rs1817881036
|
|
NM_000127.3(EXT1):c.416_419dup (p.Ser141fs)
|
rs2130043564
|
|
NM_000127.3(EXT1):c.416del (p.Glu139fs)
|
rs1817880834
|
|
NM_000127.3(EXT1):c.419del (p.Gly140fs)
|
|
|
NM_000127.3(EXT1):c.435del (p.Ser146fs)
|
rs2130043490
|
|
NM_000127.3(EXT1):c.43_53del (p.Ser15fs)
|
|
|
NM_000127.3(EXT1):c.444dup (p.Ser149fs)
|
|
|
NM_000127.3(EXT1):c.455_456del (p.Cys152fs)
|
|
|
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.461_462del (p.Phe154fs)
|
rs2130043334
|
|
NM_000127.3(EXT1):c.46del (p.Cys16fs)
|
rs1817893887
|
|
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs)
|
rs1817879250
|
|
NM_000127.3(EXT1):c.487dup (p.Arg163fs)
|
rs1817879250
|
|
NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
|
rs1817879125
|
|
NM_000127.3(EXT1):c.49_61del (p.Leu17fs)
|
|
|
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
|
rs1817895168
|
|
NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)
|
|
|
NM_000127.3(EXT1):c.515_527del (p.His172fs)
|
|
|
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter)
|
rs1817878703
|
|
NM_000127.3(EXT1):c.521del (p.Asn173_Leu174insTer)
|
rs1554601526
|
|
NM_000127.3(EXT1):c.528_535del (p.Lys177fs)
|
rs587776540
|
|
NM_000127.3(EXT1):c.533_534dup (p.Gln179fs)
|
rs1554601525
|
|
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.540_962+399del
|
rs2130039927
|
|
NM_000127.3(EXT1):c.542_543del (p.Leu181fs)
|
rs1563659474
|
|
NM_000127.3(EXT1):c.551_552del (p.Leu183_Trp184insTer)
|
|
|
NM_000127.3(EXT1):c.552G>A (p.Trp184Ter)
|
|
|
NM_000127.3(EXT1):c.557_558del (p.Asn186fs)
|
rs2130042921
|
|
NM_000127.3(EXT1):c.55del (p.Leu19fs)
|
|
|
NM_000127.3(EXT1):c.584T>G (p.Leu195Ter)
|
rs1586279621
|
|
NM_000127.3(EXT1):c.593G>T (p.Gly198Val)
|
rs1817876363
|
|
NM_000127.3(EXT1):c.598_669del (p.Trp200_Thr223del)
|
rs1554601502
|
|
NM_000127.3(EXT1):c.600G>A (p.Trp200Ter)
|
rs1817876148
|
|
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs)
|
rs2130045851
|
|
NM_000127.3(EXT1):c.613G>T (p.Glu205Ter)
|
rs2130042683
|
|
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.642_663del (p.Met215fs)
|
rs1586279544
|
|
NM_000127.3(EXT1):c.642_675del (p.Met215fs)
|
rs1586279535
|
|
NM_000127.3(EXT1):c.644_647dup (p.Lys218fs)
|
rs1554601507
|
|
NM_000127.3(EXT1):c.644_654del (p.Met215fs)
|
rs2130042421
|
|
NM_000127.3(EXT1):c.649_662del (p.Ala217fs)
|
rs1817874249
|
|
NM_000127.3(EXT1):c.651_663del (p.Lys218fs)
|
rs1554601504
|
|
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs)
|
rs1817873963
|
|
NM_000127.3(EXT1):c.651_665delinsTT (p.Lys218fs)
|
|
|
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
|
|
|
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter)
|
rs764093488
|
|
NM_000127.3(EXT1):c.674del (p.Asn225fs)
|
rs1817873681
|
|
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter)
|
rs1817873582
|
|
NM_000127.3(EXT1):c.686dup (p.Asn229fs)
|
rs1817873443
|
|
NM_000127.3(EXT1):c.698del (p.Ser233fs)
|
rs1817872999
|
|
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
|
rs1817893036
|
|
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)
|
rs2130042109
|
|
NM_000127.3(EXT1):c.712del (p.Ser238fs)
|
|
|
NM_000127.3(EXT1):c.713del (p.Ser238fs)
|
rs2130042099
|
|
NM_000127.3(EXT1):c.719del (p.Asp240fs)
|
rs1817872593
|
|
NM_000127.3(EXT1):c.739G>T (p.Glu247Ter)
|
|
|
NM_000127.3(EXT1):c.742del (p.Arg248fs)
|
|
|
NM_000127.3(EXT1):c.747del (p.Phe250_Leu251insTer)
|
rs1817872132
|
|
NM_000127.3(EXT1):c.747dup (p.Phe250fs)
|
rs1817872132
|
|
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)
|
rs2130041954
|
|
NM_000127.3(EXT1):c.756del (p.Lys252fs)
|
|
|
NM_000127.3(EXT1):c.757_760dup (p.Asn254fs)
|
|
|
NM_000127.3(EXT1):c.770del (p.Pro257fs)
|
rs2130041891
|
|
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs)
|
rs1817871338
|
|
NM_000127.3(EXT1):c.773_777del (p.Pro258fs)
|
rs2130041831
|
|
NM_000127.3(EXT1):c.787del (p.Met263fs)
|
rs2130041790
|
|
NM_000127.3(EXT1):c.791T>G (p.Leu264Arg)
|
rs377162411
|
|
NM_000127.3(EXT1):c.798del (p.Phe266fs)
|
rs1563659352
|
|
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter)
|
rs1817892723
|
|
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg)
|
rs1554601492
|
|
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.803G>T (p.Gly268Val)
|
rs886039352
|
|
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys)
|
rs1064793786
|
|
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs)
|
rs1817870176
|
|
NM_000127.3(EXT1):c.819_820del (p.Gly274fs)
|
rs886041699
|
|
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer)
|
rs1817870237
|
|
NM_000127.3(EXT1):c.830C>G (p.Ser277Ter)
|
|
|
NM_000127.3(EXT1):c.837dup (p.Arg280fs)
|
rs2130041540
|
|
NM_000127.3(EXT1):c.838A>G (p.Arg280Gly)
|
rs1554601483
|
|
NM_000127.3(EXT1):c.838A>T (p.Arg280Trp)
|
|
|
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser)
|
rs1563659325
|
|
NM_000127.3(EXT1):c.846del (p.Leu283fs)
|
rs1554601481
|
|
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter)
|
rs1057520608
|
|
NM_000127.3(EXT1):c.854dup (p.His285fs)
|
rs1554601476
|
|
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter)
|
rs759708614
|
|
NM_000127.3(EXT1):c.907del (p.Asp303fs)
|
rs2130041164
|
|
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter)
|
rs1817868370
|
|
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter)
|
rs1554601474
|
|
NM_000127.3(EXT1):c.917dup (p.His307fs)
|
rs1554601473
|
|
NM_000127.3(EXT1):c.949del (p.Thr317fs)
|
|
|
NM_000127.3(EXT1):c.957T>A (p.Tyr319Ter)
|
rs1586279297
|
|
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)
|
rs1817866954
|
|
NM_000127.3(EXT1):c.962+1G>A
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+1G>C
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+1G>T
|
rs886039353
|
|
NM_000127.3(EXT1):c.962+3_962+6del
|
rs1586279285
|
|
NM_000127.3(EXT1):c.963-1G>C
|
rs1554580160
|
|
NM_000127.3(EXT1):c.963-2A>G
|
rs1554580162
|
|
NM_000127.3(EXT1):c.972T>A (p.Tyr324Ter)
|
rs1554580158
|
|
NM_000127.3(EXT1):c.988_989insTC (p.Asn330fs)
|
rs1563575697
|
|
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp)
|
rs1554580153
|
|