ClinVar Miner

List of variants in gene EXT1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 338
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HGVS dbSNP gnomAD frequency
NM_000127.3(EXT1):c.1633-2A>G rs1233701691 0.00001
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)
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
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)
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.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>C
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.1234del (p.Trp412fs) rs1812076996
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.1249del (p.Ser417fs)
NM_000127.3(EXT1):c.124_962+1815del
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter)
NM_000127.3(EXT1):c.1285-1G>T rs1811943967
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.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.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.1437del (p.Lys479fs)
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.1567del (p.Leu523fs) rs1811864784
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter) rs1563569983
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter)
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.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.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>T rs1131691623
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.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.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.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.2059del (p.Ser687fs) rs1554656288
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.331A>T (p.Lys111Ter)
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>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.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.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.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.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.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.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_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.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.739G>T (p.Glu247Ter)
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.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.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.963-2A>G rs1554580162
NM_000127.3(EXT1):c.988_989insTC (p.Asn330fs) rs1563575697
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp) rs1554580153

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