ClinVar Miner

List of variants in gene EXT1 studied for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 379
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HGVS dbSNP
EXT1, 1-BP DEL, 1364C
EXT1, 1-BP DEL, 2120T
EXT1, 1-BP INS, 2077C
EXT1, 4-BP INS, NT1035
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
NC_000008.10:g.(?_118596815_118825146del
NC_000008.10:g.(?_118788188_118817001del
NC_000008.10:g.(?_118811951)_(118834836_?)del
NC_000008.10:g.(?_118819436)_(118847810_?)del
NC_000008.10:g.(?_118819446)_(119123285_?)dup
NC_000008.10:g.(?_118825208_119035925del
NC_000008.10:g.(?_118842449)_(118842608_?)del
NC_000008.10:g.(?_119120510_119123163del
NC_000008.11:g.(?_117799692)_(117799917_?)del
NC_000008.11:g.(?_117799692)_(117837221_?)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.(?_117830210)_(117837221_?)del
NC_000008.11:g.(?_118110065)_(118111066_?)del
NC_000008.11:g.(?_118110065)_(118111066_?)dup
NC_000008.11:g.117818435dup
NC_000008.11:g.117819794del
NM_000127.2(EXT1):c.*146G>C rs886062634
NM_000127.2(EXT1):c.*151T>C rs751063786
NM_000127.2(EXT1):c.*82C>G rs886062635
NM_000127.2(EXT1):c.-113G>C rs533303304
NM_000127.2(EXT1):c.-129A>G rs886062637
NM_000127.2(EXT1):c.-139A>G rs886062638
NM_000127.2(EXT1):c.-266C>T rs76805972
NM_000127.2(EXT1):c.-324C>G rs144282710
NM_000127.2(EXT1):c.-358T>C rs886062639
NM_000127.2(EXT1):c.-500T>G rs372210548
NM_000127.2(EXT1):c.-509C>G rs78824154
NM_000127.2(EXT1):c.-536G>A rs780662536
NM_000127.2(EXT1):c.-57G>C rs886062636
NM_000127.2(EXT1):c.-612G>A rs886062640
NM_000127.2(EXT1):c.-635C>T rs188740055
NM_000127.2(EXT1):c.-642G>A rs534171475
NM_000127.2(EXT1):c.-655C>A rs886062642
NM_000127.2(EXT1):c.-667C>G rs886062643
NM_000127.2(EXT1):c.-678C>T rs886062644
NM_000127.2(EXT1):c.-722T>C rs192302720
NM_000127.2(EXT1):c.-731G>A rs886062645
NM_000127.2(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.2(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) rs119103287
NM_000127.2(EXT1):c.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.2(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.2(EXT1):c.1036A>G (p.Arg346Gly) rs1554580147
NM_000127.2(EXT1):c.103del (p.Ser35fs) rs1563659821
NM_000127.2(EXT1):c.1053_1056+1del rs1563575654
NM_000127.2(EXT1):c.1056+1G>A rs886039354
NM_000127.2(EXT1):c.1056+2T>A rs1554580142
NM_000127.2(EXT1):c.1056+3A>C rs1554580140
NM_000127.2(EXT1):c.1057-1G>C rs1587003661
NM_000127.2(EXT1):c.1057-2A>G rs1587003662
NM_000127.2(EXT1):c.1063T>C (p.Cys355Arg) rs1587003655
NM_000127.2(EXT1):c.1065C>A (p.Cys355Ter) rs11546829
NM_000127.2(EXT1):c.1065C>T (p.Cys355=) rs11546829
NM_000127.2(EXT1):c.1066G>A (p.Val356Ile) rs61753260
NM_000127.2(EXT1):c.1135G>A (p.Val379Ile) rs371233961
NM_000127.2(EXT1):c.114A>G (p.Glu38=) rs17506447
NM_000127.2(EXT1):c.117A>G (p.Glu39=) rs78429222
NM_000127.2(EXT1):c.122G>A (p.Ser41Asn) rs199862937
NM_000127.2(EXT1):c.1236G>A (p.Trp412Ter) rs1587001428
NM_000127.2(EXT1):c.1239G>T (p.Glu413Asp) rs756701753
NM_000127.2(EXT1):c.1279C>G (p.Leu427Val) rs773539946
NM_000127.2(EXT1):c.1315_1337dup (p.Lys447_His448insHisValThrValTer) rs1563571296
NM_000127.2(EXT1):c.1316C>G (p.Ser439Ter) rs1563571318
NM_000127.2(EXT1):c.1319G>A (p.Arg440His) rs144550328
NM_000127.2(EXT1):c.1359C>T (p.Phe453=) rs148922894
NM_000127.2(EXT1):c.1360G>A (p.Val454Ile) rs201504622
NM_000127.2(EXT1):c.1401del (p.Tyr468fs) rs1554579004
NM_000127.2(EXT1):c.1417+1G>A rs1586997796
NM_000127.2(EXT1):c.1417+2T>A rs1554578992
NM_000127.2(EXT1):c.1418-2A>G rs1554578802
NM_000127.2(EXT1):c.1431C>T (p.Pro477=) rs17439693
NM_000127.2(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.2(EXT1):c.1457C>T (p.Ala486Val) rs188859975
NM_000127.2(EXT1):c.1463C>A (p.Thr488Asn) rs759514310
NM_000127.2(EXT1):c.1468del (p.Leu490fs) rs886039355
NM_000127.2(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.2(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000127.2(EXT1):c.1536+7G>A rs200128437
NM_000127.2(EXT1):c.1537-2A>G rs1554578710
NM_000127.2(EXT1):c.1576A>T (p.Lys526Ter) rs1563569983
NM_000127.2(EXT1):c.1633-2A>G rs1233701691
NM_000127.2(EXT1):c.1633-34_1670del rs1554657940
NM_000127.2(EXT1):c.165G>A (p.Trp55Ter) rs1586280132
NM_000127.2(EXT1):c.1664dup (p.Asn555fs) rs1586993159
NM_000127.2(EXT1):c.1685_1701dup (p.Thr568fs) rs1554657927
NM_000127.2(EXT1):c.1745G>A (p.Trp582Ter) rs1586990402
NM_000127.2(EXT1):c.1761G>A (p.Glu587=) rs7837891
NM_000127.2(EXT1):c.1779C>T (p.Pro593=) rs143881630
NM_000127.2(EXT1):c.1782G>A (p.Ala594=) rs61753261
NM_000127.2(EXT1):c.1810G>T (p.Glu604Ter) rs1554657437
NM_000127.2(EXT1):c.1817G>A (p.Trp606Ter) rs1586990317
NM_000127.2(EXT1):c.1878C>G (p.Tyr626Ter) rs886039357
NM_000127.2(EXT1):c.1884-1G>A rs1131691623
NM_000127.2(EXT1):c.1884-1G>T rs1131691623
NM_000127.2(EXT1):c.1911C>A (p.Tyr637Ter) rs1586989220
NM_000127.2(EXT1):c.1959G>A (p.Glu653=) rs142710059
NM_000127.2(EXT1):c.2000T>A (p.Leu667Ter) rs1131692020
NM_000127.2(EXT1):c.2004del (p.Pro669fs) rs1563872934
NM_000127.2(EXT1):c.2059del (p.Ser687fs) rs1554656288
NM_000127.2(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.2(EXT1):c.2104C>T (p.Gln702Ter) rs1554656266
NM_000127.2(EXT1):c.210A>G (p.Gln70=) rs367543871
NM_000127.2(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.2(EXT1):c.214G>A (p.Glu72Lys) rs150818931
NM_000127.2(EXT1):c.218del (p.Asn73fs) rs1554601568
NM_000127.2(EXT1):c.247dup (p.Arg83fs) rs1554601559
NM_000127.2(EXT1):c.276_277dup (p.Tyr93fs) rs1586279952
NM_000127.2(EXT1):c.279C>G (p.Tyr93Ter) rs1227875610
NM_000127.2(EXT1):c.282dup (p.Gly95fs) rs1563659649
NM_000127.2(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000127.2(EXT1):c.364C>T (p.Gln122Ter) rs1586279835
NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs) rs1563659571
NM_000127.2(EXT1):c.456C>A (p.Cys152Ter) rs1554601534
NM_000127.2(EXT1):c.521del (p.Asn173_Leu174insTer) rs1554601526
NM_000127.2(EXT1):c.528_535del (p.Lys177fs) rs587776540
NM_000127.2(EXT1):c.533_534dup (p.Gln179fs) rs1554601525
NM_000127.2(EXT1):c.572T>C (p.Leu191Ser) rs1563659467
NM_000127.2(EXT1):c.584T>G (p.Leu195Ter) rs1586279621
NM_000127.2(EXT1):c.591C>T (p.Ser197=) rs770795716
NM_000127.2(EXT1):c.598_669del (p.Trp200_Thr223del) rs1554601502
NM_000127.2(EXT1):c.609C>T (p.Tyr203=) rs886042484
NM_000127.2(EXT1):c.642_663del (p.Met215fs) rs1586279544
NM_000127.2(EXT1):c.642_675del (p.Met215fs) rs1586279535
NM_000127.2(EXT1):c.644_647dup (p.Lys218fs) rs1554601507
NM_000127.2(EXT1):c.651_663del (p.Lys218fs) rs1554601504
NM_000127.2(EXT1):c.798del (p.Phe266fs) rs1563659352
NM_000127.2(EXT1):c.838A>G (p.Arg280Gly) rs1554601483
NM_000127.2(EXT1):c.839G>C (p.Arg280Thr) rs1586279403
NM_000127.2(EXT1):c.840G>C (p.Arg280Ser) rs1563659325
NM_000127.2(EXT1):c.846del (p.Leu283fs) rs1554601481
NM_000127.2(EXT1):c.852T>A (p.Tyr284Ter) rs1057520608
NM_000127.2(EXT1):c.854dup (p.His285fs) rs1554601476
NM_000127.2(EXT1):c.874G>T (p.Val292Phe) rs1586279359
NM_000127.2(EXT1):c.913C>T (p.Gln305Ter) rs1554601474
NM_000127.2(EXT1):c.957T>A (p.Tyr319Ter) rs1586279297
NM_000127.2(EXT1):c.962+1G>A rs886039353
NM_000127.2(EXT1):c.962+1G>C rs886039353
NM_000127.2(EXT1):c.962+1G>T rs886039353
NM_000127.2(EXT1):c.962+3_962+6del rs1586279285
NM_000127.2(EXT1):c.962+8_962+11del rs138812713
NM_000127.2(EXT1):c.963-2A>G rs1554580162
NM_000127.2(EXT1):c.988_989insTC (p.Asn330fs) rs1563575697
NM_000127.2(EXT1):c.992C>A (p.Ala331Asp) rs1554580153
NM_000127.3(EXT1):c.*182A>C
NM_000127.3(EXT1):c.-16G>A
NM_000127.3(EXT1):c.-717G>C
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg)
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser)
NM_000127.3(EXT1):c.1018C>T rs119103290
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile)
NM_000127.3(EXT1):c.1056G>T (p.Gln352His)
NM_000127.3(EXT1):c.1057-12dup
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter)
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090
NM_000127.3(EXT1):c.111del (p.Glu38fs) rs1586280235
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter)
NM_000127.3(EXT1):c.1126del (p.Gln376fs)
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs)
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter)
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter)
NM_000127.3(EXT1):c.115del (p.Glu39fs) rs1586280217
NM_000127.3(EXT1):c.1161A>G (p.Leu387=) rs200256697
NM_000127.3(EXT1):c.1165-3C>G
NM_000127.3(EXT1):c.1165-6T>G
NM_000127.3(EXT1):c.1167del (p.Pro390fs)
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs) rs1369118661
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter)
NM_000127.3(EXT1):c.1220del (p.Gln407fs)
NM_000127.3(EXT1):c.1234del (p.Trp412fs)
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs)
NM_000127.3(EXT1):c.123C>T (p.Ser41=) rs1186563531
NM_000127.3(EXT1):c.124_962+1815del
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
NM_000127.3(EXT1):c.1285-1G>C
NM_000127.3(EXT1):c.1285-1G>T
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter)
NM_000127.3(EXT1):c.129del (p.Asn44fs)
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter)
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter)
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter)
NM_000127.3(EXT1):c.1338C>T (p.Asn446=)
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
NM_000127.3(EXT1):c.1350del (p.Gly451fs)
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter)
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter)
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter)
NM_000127.3(EXT1):c.1405del (p.Tyr469fs)
NM_000127.3(EXT1):c.1417+1G>T
NM_000127.3(EXT1):c.1417+6T>C
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter)
NM_000127.3(EXT1):c.1431del (p.Ser478fs)
NM_000127.3(EXT1):c.1434_1440dup (p.Thr481fs)
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)
NM_000127.3(EXT1):c.147C>T (p.Pro49=)
NM_000127.3(EXT1):c.1503C>G (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.1503C>T (p.Leu501=)
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
NM_000127.3(EXT1):c.1522del (p.Gln508fs)
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter)
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
NM_000127.3(EXT1):c.1567del (p.Leu523fs)
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile)
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter)
NM_000127.3(EXT1):c.1633-1G>A
NM_000127.3(EXT1):c.1633-1G>T
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=)
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer)
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala)
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs)
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs)
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs)
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter)
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs)
NM_000127.3(EXT1):c.1722+1G>T
NM_000127.3(EXT1):c.1722+2T>G
NM_000127.3(EXT1):c.1723-2A>C
NM_000127.3(EXT1):c.1723-2A>T
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) rs1586990398
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
NM_000127.3(EXT1):c.1758T>C (p.Pro586=)
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
NM_000127.3(EXT1):c.176del (p.Pro59fs)
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs)
NM_000127.3(EXT1):c.1773del (p.Tyr592fs) rs1586990361
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter)
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter)
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter)
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter)
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter)
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
NM_000127.3(EXT1):c.1839G>A (p.Thr613=) rs765677175
NM_000127.3(EXT1):c.1845del (p.Tyr616fs)
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
NM_000127.3(EXT1):c.1872T>C (p.Ala624=)
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter)
NM_000127.3(EXT1):c.1883+1G>A
NM_000127.3(EXT1):c.1883+1G>T
NM_000127.3(EXT1):c.1883+2T>C
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs)
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
NM_000127.3(EXT1):c.1899A>G (p.Leu633=) rs368191286
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
NM_000127.3(EXT1):c.1906del (p.His636fs)
NM_000127.3(EXT1):c.1920C>T (p.Ala640=)
NM_000127.3(EXT1):c.1925del (p.Leu642fs)
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
NM_000127.3(EXT1):c.1944del (p.Gln648fs) rs1586989202
NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs) rs1586989189
NM_000127.3(EXT1):c.1965del (p.Leu656fs)
NM_000127.3(EXT1):c.1971del (p.Met657fs)
NM_000127.3(EXT1):c.197T>C (p.Val66Ala)
NM_000127.3(EXT1):c.1998dup (p.Leu667fs)
NM_000127.3(EXT1):c.2010C>T (p.Ile670=)
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter)
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter)
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter)
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs)
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter)
NM_000127.3(EXT1):c.2055+5G>A
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter)
NM_000127.3(EXT1):c.2100G>A (p.Gln700=)
NM_000127.3(EXT1):c.2115del (p.Met705fs)
NM_000127.3(EXT1):c.2119dup (p.Thr707fs)
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
NM_000127.3(EXT1):c.2172C>T (p.Leu724=)
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
NM_000127.3(EXT1):c.2199C>T (p.Val733=)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=)
NM_000127.3(EXT1):c.247del (p.Arg83fs)
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
NM_000127.3(EXT1):c.266dup (p.Asn89fs)
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter)
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs)
NM_000127.3(EXT1):c.287del (p.Lys96fs)
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
NM_000127.3(EXT1):c.330_331insTCTACGT (p.Lys111delinsSerThrTer)
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter)
NM_000127.3(EXT1):c.360dup (p.Gln121fs)
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
NM_000127.3(EXT1):c.444del (p.Ser149fs)
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
NM_000127.3(EXT1):c.46del (p.Cys16fs)
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs)
NM_000127.3(EXT1):c.487dup (p.Arg163fs)
NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter)
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser)
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000127.3(EXT1):c.540_962+399del
NM_000127.3(EXT1):c.542_543del (p.Leu181fs) rs1563659474
NM_000127.3(EXT1):c.543C>T (p.Leu181=)
NM_000127.3(EXT1):c.557_558del (p.Asn186fs)
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
NM_000127.3(EXT1):c.568_570del (p.His190del)
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
NM_000127.3(EXT1):c.593G>T (p.Gly198Val)
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs)
NM_000127.3(EXT1):c.649_662del (p.Ala217fs)
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs)
NM_000127.3(EXT1):c.66T>C (p.Tyr22=)
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter)
NM_000127.3(EXT1):c.674del (p.Asn225fs)
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter)
NM_000127.3(EXT1):c.686dup (p.Asn229fs)
NM_000127.3(EXT1):c.692_694del (p.Asp231del)
NM_000127.3(EXT1):c.698del (p.Ser233fs)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)
NM_000127.3(EXT1):c.741G>A (p.Glu247=) rs148473091
NM_000127.3(EXT1):c.747dup (p.Phe250fs)
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu)
NM_000127.3(EXT1):c.768C>T (p.Ile256=) rs566692634
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs)
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter)
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg)
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs)
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer)
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter)
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)
NM_000127.3(EXT1):c.962+7G>C
NM_000127.3(EXT1):c.963-7dup
NM_000127.3(EXT1):c.978A>G (p.Glu326=)
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
NM_000127.3(EXT1):c.99C>T (p.Ser33=) rs147654656

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