ClinVar Miner

List of variants reported as uncertain significance for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1018
Download table as spreadsheet
HGVS dbSNP
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
NC_000005.9:g.(?_149503793)_(149516630_?)dup
NC_000008.10:g.(?_118819446)_(119123285_?)dup
NC_000008.11:g.(?_118110065)_(118111066_?)dup
NC_000011.10:g.44095641G>T
NC_000019.9:g.(?_33532300)_(33793320_?)dup
NC_000019.9:g.(?_33792234)_(33793330_?)dup
NC_012920.1:m.14372C>A rs1556424431
NM_000038.6(APC):c.1553C>T (p.Thr518Met) rs371453363
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031
NM_000038.6(APC):c.245T>C (p.Phe82Ser) rs1179254201
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437
NM_000038.6(APC):c.319T>G (p.Ser107Ala) rs1485866385
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) rs764706774
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) rs1554086241
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) rs769273526
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) rs786202975
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) rs1055180096
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) rs779287035
NM_000038.6(APC):c.791A>G (p.Gln264Arg) rs369345931
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836
NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.8611G>C (p.Glu2871Gln) rs587782860
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
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.-358T>C rs886062639
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.-655C>A rs886062642
NM_000127.2(EXT1):c.-667C>G rs886062643
NM_000127.2(EXT1):c.-678C>T rs886062644
NM_000127.2(EXT1):c.-731G>A rs886062645
NM_000127.2(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
NM_000127.2(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.2(EXT1):c.1135G>A (p.Val379Ile) rs371233961
NM_000127.2(EXT1):c.122G>A (p.Ser41Asn) rs199862937
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.1319G>A (p.Arg440His) rs144550328
NM_000127.2(EXT1):c.1360G>A (p.Val454Ile) rs201504622
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.210A>G (p.Gln70=) rs367543871
NM_000127.2(EXT1):c.214G>A (p.Glu72Lys) rs150818931
NM_000127.2(EXT1):c.839G>C (p.Arg280Thr) rs1586279403
NM_000127.2(EXT1):c.874G>T (p.Val292Phe) rs1586279359
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.1165-3C>G
NM_000127.3(EXT1):c.1165-6T>G
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
NM_000127.3(EXT1):c.1417+6T>C
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
NM_000127.3(EXT1):c.197T>C (p.Val66Ala)
NM_000127.3(EXT1):c.2055+5G>A
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682
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.2195A>G (p.Gln732Arg)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=)
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser)
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.692_694del (p.Asp231del)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu)
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)
NM_000222.2(KIT):c.1553C>T (p.Pro518Leu) rs569408054
NM_000222.2(KIT):c.200C>G (p.Thr67Ser) rs144933028
NM_000222.2(KIT):c.2057G>A (p.Arg686His) rs143772138
NM_000222.2(KIT):c.2104C>G (p.Leu702Val) rs768847037
NM_000222.2(KIT):c.2294A>G (p.Asp765Gly) rs1060502545
NM_000222.2(KIT):c.2836C>T (p.Arg946Ter) rs139000082
NM_000222.2(KIT):c.2863G>T (p.Val955Leu) rs1060502568
NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) rs773828910
NM_000222.2(KIT):c.2887A>G (p.Thr963Ala) rs773709702
NM_000222.2(KIT):c.2900C>G (p.Ser967Cys) rs1232060384
NM_000222.2(KIT):c.302A>G (p.His101Arg) rs1274601103
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517
NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758
NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.3811A>G (p.Met1271Val) rs746583007
NM_000267.3(NF1):c.4138A>T (p.Ser1380Cys) rs1060500310
NM_000267.3(NF1):c.4331A>G (p.Asn1444Ser) rs786202492
NM_000267.3(NF1):c.4346G>A (p.Ser1449Asn) rs876660093
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.4773G>A (p.Arg1591=) rs1555533268
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5666C>G (p.Ser1889Cys) rs751904277
NM_000267.3(NF1):c.575G>A (p.Arg192Gln) rs587781670
NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) rs377662483
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) rs199474793
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.8159C>T (p.Thr2720Met) rs144178015
NM_000267.3(NF1):c.845A>G (p.Gln282Arg) rs779034900
NM_000321.2(RB1):c.269G>T (p.Gly90Val) rs554727080
NM_000321.2(RB1):c.276T>G (p.Ile92Met) rs1555282772
NM_000321.2(RB1):c.752G>A (p.Arg251Gln) rs772678500
NM_000321.2(RB1):c.850A>G (p.Asn284Asp) rs761609284
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) rs371093730
NM_000368.4(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733
NM_000368.4(TSC1):c.359T>C (p.Leu120Pro) rs1554820262
NM_000388.4(CASR):c.*1011T>A
NM_000388.4(CASR):c.*103A>C rs199899073
NM_000388.4(CASR):c.*1169C>T rs200652347
NM_000388.4(CASR):c.*1193C>T rs886057835
NM_000388.4(CASR):c.*1197C>G rs886057836
NM_000388.4(CASR):c.*1201C>T rs886057837
NM_000388.4(CASR):c.*1298A>G
NM_000388.4(CASR):c.*251G>C
NM_000388.4(CASR):c.*625G>A rs886057833
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.*923T>C rs201230484
NM_000388.4(CASR):c.-10C>T rs753659949
NM_000388.4(CASR):c.-111C>A rs201098532
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-137C>T
NM_000388.4(CASR):c.-154T>A rs186365367
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1733-9A>G rs190731787
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329
NM_000388.4(CASR):c.183C>T (p.Ile61=)
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn)
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357
NM_000401.3(EXT2):c.*368C>T rs886048279
NM_000401.3(EXT2):c.*381T>C rs886048280
NM_000401.3(EXT2):c.*731A>G rs886048281
NM_000401.3(EXT2):c.*93G>A rs886048278
NM_000401.3(EXT2):c.*945G>A rs886048282
NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) rs371996957
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) rs138943091
NM_000401.3(EXT2):c.1208T>C (p.Met403Thr) rs199711832
NM_000401.3(EXT2):c.130G>A (p.Gly44Ser) rs886048274
NM_000401.3(EXT2):c.1390G>A (p.Asp464Asn) rs886048276
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) rs772690312
NM_000401.3(EXT2):c.1663C>T (p.Arg555Cys) rs145507609
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.304G>A (p.Val102Ile) rs200809171
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) rs534539796
NM_000401.3(EXT2):c.382C>T (p.Arg128Cys) rs376292686
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.652_657del (p.Asn218_His219del) rs761364688
NM_000401.3(EXT2):c.670A>G (p.Met224Val) rs1324170921
NM_000401.3(EXT2):c.74G>T (p.Cys25Phe) rs369437823
NM_000401.3(EXT2):c.755C>T (p.Thr252Met) rs202208526
NM_000401.3(EXT2):c.904C>T (p.Leu302=) rs773486418
NM_000401.3(EXT2):c.959C>A (p.Thr320Asn) rs886048275
NM_000435.3(NOTCH3):c.214G>A (p.Val72Met)
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.3(NOTCH3):c.5114+11T>G
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000460.4(THPO):c.*108C>T
NM_000460.4(THPO):c.*191T>G
NM_000460.4(THPO):c.*27A>G
NM_000460.4(THPO):c.*366G>C
NM_000460.4(THPO):c.*404G>A rs573846929
NM_000460.4(THPO):c.*480G>A
NM_000460.4(THPO):c.*500A>G rs886058217
NM_000460.4(THPO):c.-123C>T rs535707667
NM_000460.4(THPO):c.-215T>A rs886058219
NM_000460.4(THPO):c.-56G>A rs187556243
NM_000460.4(THPO):c.13G>A (p.Glu5Lys)
NM_000460.4(THPO):c.14-11C>T
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378
NM_000460.4(THPO):c.303A>G (p.Gln101=) rs775232517
NM_000460.4(THPO):c.517G>A (p.Val173Ile) rs780992873
NM_000460.4(THPO):c.518T>C (p.Val173Ala) rs768776540
NM_000460.4(THPO):c.579C>T (p.Asn193=) rs202166253
NM_000460.4(THPO):c.671G>A (p.Gly224Glu) rs886058218
NM_000460.4(THPO):c.740T>C (p.Leu247Pro)
NM_000460.4(THPO):c.791_794del (p.Pro264fs) rs760659440
NM_000460.4(THPO):c.796C>T (p.Arg266Cys)
NM_000460.4(THPO):c.808G>A (p.Gly270Arg)
NM_000460.4(THPO):c.889A>G (p.Thr297Ala) rs530613857
NM_000460.4(THPO):c.963C>T (p.His321=)
NM_000546.5(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.760A>G (p.Ile254Val) rs746601313
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398
NM_001083602.2(PTCH1):c.-241del rs1554710890
NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del) rs864309497
NM_001127511.3(APC):c.-128G>C rs543098847
NM_001127511.3(APC):c.-204A>G rs554351451
NM_001127511.3(APC):c.1A>G (p.Met1Val) rs189807660
NM_001128849.2(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221
NM_001145661.2(GATA2):c.1232C>T (p.Ala411Val) rs374457534
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) rs201155045
NM_001145661.2(GATA2):c.1348G>A (p.Gly450Arg) rs370164300
NM_001145661.2(GATA2):c.182C>T (p.Ala61Val) rs375349195
NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg) rs753645971
NM_001145661.2(GATA2):c.829A>G (p.Ser277Gly) rs141800945
NM_001195626.3(MLLT10):c.1226G>C (p.Gly409Ala)
NM_001285829.1(CEBPA):c.-102C>T rs1555742243
NM_001285829.1(CEBPA):c.-106C>G rs878854700
NM_001285829.1(CEBPA):c.-140T>G rs1555742258
NM_001285829.1(CEBPA):c.-171G>A rs1452063514
NM_001285829.1(CEBPA):c.-174A>G rs558462037
NM_001285829.1(CEBPA):c.-179C>T rs1060502119
NM_001285829.1(CEBPA):c.-180A>T rs1060502120
NM_001285829.1(CEBPA):c.-203T>C rs936973108
NM_001285829.1(CEBPA):c.-242C>T rs1060502125
NM_001285829.1(CEBPA):c.-251G>A rs746522150
NM_001285829.1(CEBPA):c.-258C>T rs996435066
NM_001285829.1(CEBPA):c.-290C>A rs1308550194
NM_001285829.1(CEBPA):c.-295C>A rs867113214
NM_001285829.1(CEBPA):c.-298G>C rs1060502123
NM_001285829.1(CEBPA):c.-306C>T rs1600024559
NM_001285829.1(CEBPA):c.-307C>A rs1245499278
NM_001285829.1(CEBPA):c.-317C>A rs1007915253
NM_001285829.1(CEBPA):c.-317C>G rs1007915253
NM_001285829.1(CEBPA):c.-318C>G rs1379627026
NM_001285829.1(CEBPA):c.-321C>G rs961496947
NM_001285829.1(CEBPA):c.-327C>T rs1555742325
NM_001285829.1(CEBPA):c.-330G>A rs1555742327
NM_001285829.1(CEBPA):c.-33C>T rs1027991203
NM_001285829.1(CEBPA):c.-348G>T rs1415169403
NM_001285829.1(CEBPA):c.-45_-43dup rs1568420047
NM_001285829.1(CEBPA):c.-54G>A rs1455462308
NM_001285829.1(CEBPA):c.-57G>T rs1600023637
NM_001285829.1(CEBPA):c.-65C>T rs1490895935
NM_001285829.1(CEBPA):c.-75G>A rs1356845856
NM_001285829.1(CEBPA):c.-81_-80delinsAA rs878854701
NM_001285829.1(CEBPA):c.201_211delinsCTCGCACC (p.Pro68_Ser71delinsSerHisPro) rs1568419793
NM_001286780.2(ANTXR2):c.-80+121A>T rs886059665
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu) rs1208732776
NM_001291424.1(SH2B3):c.592G>A (p.Glu198Lys) rs72650673
NM_001374353.1(GLI2):c.3784C>T (p.His1262Tyr)
NM_001375462.1(LPP):c.451T>C (p.Ser151Pro)
NM_001754.4(RUNX1):c.1269C>T (p.Arg423=) rs544247912
NM_001754.4(RUNX1):c.182C>T (p.Pro61Leu) rs769213771
NM_001754.4(RUNX1):c.649G>A (p.Gly217Arg) rs749004431
NM_001754.4(RUNX1):c.787C>T (p.Pro263Ser) rs370315332
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro)
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val)
NM_001754.5(RUNX1):c.749G>A rs771614642
NM_002070.4(GNAI2):c.879G>A (p.Gly293=)
NM_002439.5(MSH3):c.178G>C (p.Ala60Pro) rs2001675
NM_002451.4(MTAP):c.*102A>G rs755040797
NM_002451.4(MTAP):c.*1093G>T
NM_002451.4(MTAP):c.*1140A>G rs886063785
NM_002451.4(MTAP):c.*1197C>G rs886063786
NM_002451.4(MTAP):c.*1384G>C rs755911467
NM_002451.4(MTAP):c.*1399C>A
NM_002451.4(MTAP):c.*1453C>T
NM_002451.4(MTAP):c.*1482A>G rs560361151
NM_002451.4(MTAP):c.*1558G>C
NM_002451.4(MTAP):c.*1608del rs886063787
NM_002451.4(MTAP):c.*1621_*1622del rs11358276
NM_002451.4(MTAP):c.*1668T>C
NM_002451.4(MTAP):c.*1760A>G rs886063788
NM_002451.4(MTAP):c.*1831T>A rs886063789
NM_002451.4(MTAP):c.*1836C>G
NM_002451.4(MTAP):c.*2033G>A
NM_002451.4(MTAP):c.*2111A>G
NM_002451.4(MTAP):c.*2171G>A rs886063790
NM_002451.4(MTAP):c.*2183T>C
NM_002451.4(MTAP):c.*2269A>T
NM_002451.4(MTAP):c.*2286A>G
NM_002451.4(MTAP):c.*2333C>G
NM_002451.4(MTAP):c.*2383C>T rs886063791
NM_002451.4(MTAP):c.*2481T>C
NM_002451.4(MTAP):c.*254A>T
NM_002451.4(MTAP):c.*258del rs886063782
NM_002451.4(MTAP):c.*2606G>C rs886063792
NM_002451.4(MTAP):c.*2638G>A rs556394357
NM_002451.4(MTAP):c.*2651G>A rs569725867
NM_002451.4(MTAP):c.*2660C>A
NM_002451.4(MTAP):c.*2693G>A
NM_002451.4(MTAP):c.*2740G>A
NM_002451.4(MTAP):c.*2837T>A rs566068002
NM_002451.4(MTAP):c.*2912G>C rs775831366
NM_002451.4(MTAP):c.*2937C>G
NM_002451.4(MTAP):c.*2968T>C rs554780978
NM_002451.4(MTAP):c.*303G>A
NM_002451.4(MTAP):c.*3052C>T rs182636316
NM_002451.4(MTAP):c.*3057T>A
NM_002451.4(MTAP):c.*3060A>G
NM_002451.4(MTAP):c.*3072G>A rs768885564
NM_002451.4(MTAP):c.*3160T>C
NM_002451.4(MTAP):c.*3206C>T rs886063793
NM_002451.4(MTAP):c.*3276A>G
NM_002451.4(MTAP):c.*3361C>T rs138870323
NM_002451.4(MTAP):c.*3389T>C rs765432220
NM_002451.4(MTAP):c.*3501T>C
NM_002451.4(MTAP):c.*3656A>G
NM_002451.4(MTAP):c.*3692G>A
NM_002451.4(MTAP):c.*3766C>T rs149649469
NM_002451.4(MTAP):c.*3774A>G
NM_002451.4(MTAP):c.*378T>C rs886063783
NM_002451.4(MTAP):c.*3943G>A rs886063794
NM_002451.4(MTAP):c.*395A>G
NM_002451.4(MTAP):c.*730A>G
NM_002451.4(MTAP):c.*795A>T
NM_002451.4(MTAP):c.*912A>G
NM_002451.4(MTAP):c.-108_-103del rs886063780
NM_002451.4(MTAP):c.-52G>C
NM_002451.4(MTAP):c.119A>G (p.Lys40Arg)
NM_002451.4(MTAP):c.187A>G (p.Arg63Gly) rs886063781
NM_002451.4(MTAP):c.224A>G (p.Gln75Arg)
NM_002451.4(MTAP):c.300G>A (p.Glu100=) rs762121645
NM_002451.4(MTAP):c.572C>T (p.Ala191Val) rs200708704
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp) rs146468845
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) rs374802057
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) rs1312583190
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) rs765124485
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) rs770027941
NM_002609.4(PDGFRB):c.2023+5C>T rs369842668
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)
NM_002609.4(PDGFRB):c.2464-3C>T rs571983343
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile)
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val)
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys)
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) rs1561984983
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp)
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) rs1562011077
NM_002609.4(PDGFRB):c.631+1G>A
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) rs1580808180
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_003048.6(SLC9A2):c.2173del (p.Gln725fs) rs864309496
NM_003483.4(HMGA2):c.283-2A>G rs1592471112
NM_003924.3(PHOX2B):c.556G>A (p.Glu186Lys) rs1560465720
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-85C>T
NM_003977.4(AIP):c.102C>G (p.Ala34=) rs886048584
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539
NM_003977.4(AIP):c.249G>A (p.Gly83=)
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.468+3G>A rs868823652
NM_003977.4(AIP):c.469-17T>C rs886037872
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.4(AIP):c.827C>T (p.Ala276Val) rs61741147
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257
NM_004304.5(ALK):c.1283-5T>C rs377214413
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155
NM_004329.2(BMPR1A):c.499A>T (p.Met167Leu) rs200951235
NM_004364.4(CEBPA):c.-39C>A rs41434054
NM_004364.4(CEBPA):c.1000G>A (p.Glu334Lys) rs369632687
NM_004364.4(CEBPA):c.1000G>C (p.Glu334Gln) rs369632687
NM_004364.4(CEBPA):c.1009A>T (p.Thr337Ser) rs587778192
NM_004364.4(CEBPA):c.1018G>A (p.Gly340Ser) rs375833261
NM_004364.4(CEBPA):c.1021A>G (p.Ile341Val) rs372931505
NM_004364.4(CEBPA):c.1045T>C (p.Ser349Pro) rs1060502117
NM_004364.4(CEBPA):c.1055A>G (p.Lys352Arg) rs775099224
NM_004364.4(CEBPA):c.1060A>G (p.Met354Val) rs1060502122
NM_004364.4(CEBPA):c.1064G>A (p.Gly355Asp) rs1358286265
NM_004364.4(CEBPA):c.1073C>T (p.Ala358Val) rs577659401
NM_004364.4(CEBPA):c.109G>A (p.Ala37Thr) rs1404014711
NM_004364.4(CEBPA):c.14A>C (p.Asp5Ala) rs1555742334
NM_004364.4(CEBPA):c.158G>T (p.Gly53Val) rs1600024079
NM_004364.4(CEBPA):c.16T>A (p.Phe6Ile) rs1600024682
NM_004364.4(CEBPA):c.190A>G (p.Ile64Val) rs1600023975
NM_004364.4(CEBPA):c.209C>T (p.Pro70Leu) rs1600023907
NM_004364.4(CEBPA):c.211G>A (p.Ala71Thr) rs1555742260
NM_004364.4(CEBPA):c.22G>A (p.Glu8Lys) rs1600024672
NM_004364.4(CEBPA):c.246C>A (p.Phe82Leu) rs917977456
NM_004364.4(CEBPA):c.257G>T (p.Arg86Leu) rs1424468512
NM_004364.4(CEBPA):c.261G>T (p.Gln87His) rs868242502
NM_004364.4(CEBPA):c.269A>C (p.Lys90Thr) rs1600023742
NM_004364.4(CEBPA):c.305G>A (p.Gly102Asp) rs1358539228
NM_004364.4(CEBPA):c.358A>G (p.Met120Val) rs1555742209
NM_004364.4(CEBPA):c.364G>C (p.Gly122Arg) rs1013724730
NM_004364.4(CEBPA):c.365G>A (p.Gly122Glu) rs1311096326
NM_004364.4(CEBPA):c.368G>T (p.Gly123Val) rs1600023321
NM_004364.4(CEBPA):c.373C>T (p.His125Tyr) rs896656951
NM_004364.4(CEBPA):c.379C>T (p.Pro127Ser) rs1055210725
NM_004364.4(CEBPA):c.382C>T (p.Pro128Ser) rs1362518517
NM_004364.4(CEBPA):c.383C>G (p.Pro128Arg) rs878854702
NM_004364.4(CEBPA):c.385C>T (p.Pro129Ser) rs1328994773
NM_004364.4(CEBPA):c.386C>A (p.Pro129His) rs1600023223
NM_004364.4(CEBPA):c.388G>A (p.Gly130Ser) rs919904139
NM_004364.4(CEBPA):c.392A>T (p.Tyr131Phe) rs1300977671
NM_004364.4(CEBPA):c.413A>T (p.Tyr138Phe) rs908433906
NM_004364.4(CEBPA):c.421G>T (p.Gly141Cys) rs1408671093
NM_004364.4(CEBPA):c.432G>T (p.Glu144Asp) rs1555742184
NM_004364.4(CEBPA):c.448G>T (p.Val150Phe) rs1600023056
NM_004364.4(CEBPA):c.44T>C (p.Met15Thr) rs1600024585
NM_004364.4(CEBPA):c.527C>T (p.Ala176Val) rs957167825
NM_004364.4(CEBPA):c.532C>G (p.Leu178Val) rs1325138029
NM_004364.4(CEBPA):c.535T>C (p.Phe179Leu) rs1033194020
NM_004364.4(CEBPA):c.541T>C (p.Tyr181His) rs1060502124
NM_004364.4(CEBPA):c.544C>A (p.Gln182Lys) rs1600022835
NM_004364.4(CEBPA):c.545A>C (p.Gln182Pro) rs1555742145
NM_004364.4(CEBPA):c.547C>T (p.Pro183Ser) rs998501847
NM_004364.4(CEBPA):c.54C>G (p.His18Gln) rs1600024552
NM_004364.4(CEBPA):c.551C>G (p.Pro184Arg) rs1457318927
NM_004364.4(CEBPA):c.560C>A (p.Pro187Gln) rs1600022732
NM_004364.4(CEBPA):c.569C>T (p.Ser190Leu) rs1555742114
NM_004364.4(CEBPA):c.576_577insTACCCG (p.His193_Pro194insTyrPro) rs1555742103
NM_004364.4(CEBPA):c.593C>T (p.Pro198Leu) rs1568419736
NM_004364.4(CEBPA):c.595_596delinsTT (p.Ala199Leu) rs1060502118
NM_004364.4(CEBPA):c.610C>G (p.Pro204Ala) rs1600022363
NM_004364.4(CEBPA):c.614A>G (p.His205Arg) rs1568419698
NM_004364.4(CEBPA):c.623T>C (p.Phe208Ser) rs1347174767
NM_004364.4(CEBPA):c.631G>C (p.Ala211Pro) rs1568419687
NM_004364.4(CEBPA):c.634C>T (p.His212Tyr) rs1433126196
NM_004364.4(CEBPA):c.646A>G (p.Thr216Ala) rs1600022240
NM_004364.4(CEBPA):c.654G>T (p.Met218Ile) rs1555742071
NM_004364.4(CEBPA):c.655C>A (p.His219Asn) rs1568419664
NM_004364.4(CEBPA):c.664C>T (p.Pro222Ser) rs1568419654
NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) rs535980233
NM_004364.4(CEBPA):c.695T>C (p.Val232Ala) rs1600022098
NM_004364.4(CEBPA):c.709C>A (p.Pro237Thr) rs921077083
NM_004364.4(CEBPA):c.715C>G (p.Pro239Ala) rs1162371435
NM_004364.4(CEBPA):c.724G>A (p.Gly242Ser) rs530569305
NM_004364.4(CEBPA):c.72C>A (p.His24Gln) rs1555742309
NM_004364.4(CEBPA):c.733G>A (p.Gly245Ser) rs1315043080
NM_004364.4(CEBPA):c.73G>C (p.Ala25Pro) rs1600024440
NM_004364.4(CEBPA):c.748G>A (p.Gly250Ser) rs1555742056
NM_004364.4(CEBPA):c.754G>T (p.Ala252Ser) rs1049967
NM_004364.4(CEBPA):c.776C>G (p.Ala259Gly) rs746895795
NM_004364.4(CEBPA):c.780C>A (p.His260Gln) rs1429055509
NM_004364.4(CEBPA):c.786C>A (p.Asp262Glu) rs747881336
NM_004364.4(CEBPA):c.787C>T (p.Leu263Phe) rs1357810737
NM_004364.4(CEBPA):c.790C>T (p.Arg264Cys) rs1228704709
NM_004364.4(CEBPA):c.793_794delinsAT (p.Ala265Met) rs1555742019
NM_004364.4(CEBPA):c.802G>T (p.Gly268Cys) rs1568419433
NM_004364.4(CEBPA):c.803G>T (p.Gly268Val) rs780335632
NM_004364.4(CEBPA):c.815G>T (p.Gly272Val) rs1162467731
NM_004364.4(CEBPA):c.821C>T (p.Ala274Val) rs767673311
NM_004364.4(CEBPA):c.827A>G (p.Lys276Arg) rs201061067
NM_004364.4(CEBPA):c.836A>G (p.Asp279Gly) rs1568419375
NM_004364.4(CEBPA):c.882C>G (p.Ile294Met) rs376093748
NM_004364.4(CEBPA):c.88G>T (p.Ala30Ser) rs1555742305
NM_004364.4(CEBPA):c.890G>T (p.Arg297Leu) rs1600021258
NM_004364.4(CEBPA):c.892A>C (p.Lys298Gln) rs1392203731
NM_004364.4(CEBPA):c.898_913dup (p.Gln305fs) rs1600021166
NM_004364.4(CEBPA):c.913C>G (p.Gln305Glu) rs747606716
NM_004364.4(CEBPA):c.914A>G (p.Gln305Arg) rs1479225242
NM_004364.4(CEBPA):c.926A>G (p.Glu309Gly) rs1568419235
NM_004364.4(CEBPA):c.94G>A (p.Gly32Ser) rs1348778034
NM_004364.4(CEBPA):c.955A>C (p.Ser319Arg) rs1555741962
NM_004364.4(CEBPA):c.985G>A (p.Glu329Lys) rs1568419162
NM_004364.4(CEBPA):c.989A>C (p.Gln330Pro) rs1555741952
NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr)
NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met)
NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp)
NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val)
NM_004364.5(CEBPA):c.1025dup (p.Arg343fs)
NM_004364.5(CEBPA):c.1028G>A (p.Arg343His)
NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu)
NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg)
NM_004364.5(CEBPA):c.103C>T (p.Arg35Trp)
NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln)
NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr)
NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val)
NM_004364.5(CEBPA):c.106G>A (p.Gly36Ser)
NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp)
NM_004364.5(CEBPA):c.113G>A (p.Gly38Asp)
NM_004364.5(CEBPA):c.115C>G (p.Pro39Ala)
NM_004364.5(CEBPA):c.119C>T (p.Ala40Val)
NM_004364.5(CEBPA):c.124C>T (p.Pro42Ser)
NM_004364.5(CEBPA):c.124_125delinsTT (p.Pro42Phe)
NM_004364.5(CEBPA):c.127_138del (p.Pro43_Pro46del)
NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu)
NM_004364.5(CEBPA):c.139G>T (p.Ala47Ser)
NM_004364.5(CEBPA):c.140C>T (p.Ala47Val)
NM_004364.5(CEBPA):c.142G>A (p.Ala48Thr)
NM_004364.5(CEBPA):c.151C>G (p.Pro51Ala)
NM_004364.5(CEBPA):c.151C>T (p.Pro51Ser)
NM_004364.5(CEBPA):c.152C>T (p.Pro51Leu)
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)
NM_004364.5(CEBPA):c.160G>A (p.Gly54Ser)
NM_004364.5(CEBPA):c.171G>C (p.Glu57Asp)
NM_004364.5(CEBPA):c.186C>G (p.Ile62Met)
NM_004364.5(CEBPA):c.187G>C (p.Asp63His)
NM_004364.5(CEBPA):c.196G>A (p.Ala66Thr)
NM_004364.5(CEBPA):c.222CGA[1] (p.Asp75del) rs1600023841
NM_004364.5(CEBPA):c.225C>G (p.Asp75Glu)
NM_004364.5(CEBPA):c.233T>A (p.Leu78Gln)
NM_004364.5(CEBPA):c.236C>G (p.Ala79Gly)
NM_004364.5(CEBPA):c.260A>C (p.Gln87Pro)
NM_004364.5(CEBPA):c.265_267del (p.Glu89del)
NM_004364.5(CEBPA):c.289C>T (p.Pro97Ser)
NM_004364.5(CEBPA):c.290C>T (p.Pro97Leu)
NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg)
NM_004364.5(CEBPA):c.294_296dup (p.Gly104dup)
NM_004364.5(CEBPA):c.295G>A (p.Gly99Ser)
NM_004364.5(CEBPA):c.296GCG[3] (p.Gly102_Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del) rs780345232
NM_004364.5(CEBPA):c.296GCG[5] (p.Gly104del)
NM_004364.5(CEBPA):c.296GCG[9] (p.Gly102_Gly104dup)
NM_004364.5(CEBPA):c.305G>C (p.Gly102Ala)
NM_004364.5(CEBPA):c.310G>A (p.Gly104Ser)
NM_004364.5(CEBPA):c.319G>T (p.Asp107Tyr)
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr)
NM_004364.5(CEBPA):c.325C>G (p.Pro109Ala)
NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg)
NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu)
NM_004364.5(CEBPA):c.331G>T (p.Ala111Ser)
NM_004364.5(CEBPA):c.334C>G (p.Pro112Ala)
NM_004364.5(CEBPA):c.355G>A (p.Val119Ile)
NM_004364.5(CEBPA):c.355G>C (p.Val119Leu)
NM_004364.5(CEBPA):c.361C>G (p.Pro121Ala)
NM_004364.5(CEBPA):c.361C>T (p.Pro121Ser)
NM_004364.5(CEBPA):c.362C>A (p.Pro121His)
NM_004364.5(CEBPA):c.364G>A (p.Gly122Arg)
NM_004364.5(CEBPA):c.368G>A (p.Gly123Glu)
NM_004364.5(CEBPA):c.379C>G (p.Pro127Ala)
NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser)
NM_004364.5(CEBPA):c.388G>T (p.Gly130Cys)
NM_004364.5(CEBPA):c.406G>A (p.Ala136Thr)
NM_004364.5(CEBPA):c.406G>T (p.Ala136Ser)
NM_004364.5(CEBPA):c.407C>G (p.Ala136Gly)
NM_004364.5(CEBPA):c.416T>C (p.Leu139Pro)
NM_004364.5(CEBPA):c.421G>A (p.Gly141Ser)
NM_004364.5(CEBPA):c.425G>A (p.Arg142Lys)
NM_004364.5(CEBPA):c.431A>G (p.Glu144Gly)
NM_004364.5(CEBPA):c.437T>C (p.Leu146Pro)
NM_004364.5(CEBPA):c.43A>C (p.Met15Leu)
NM_004364.5(CEBPA):c.450_468delinsTGAT (p.Gly151_Arg156delinsAsp)
NM_004364.5(CEBPA):c.451G>A (p.Gly151Arg)
NM_004364.5(CEBPA):c.451G>T (p.Gly151Trp)
NM_004364.5(CEBPA):c.455C>T (p.Ala152Val)
NM_004364.5(CEBPA):c.458C>G (p.Pro153Arg)
NM_004364.5(CEBPA):c.45G>A (p.Met15Ile)
NM_004364.5(CEBPA):c.467G>A (p.Arg156Gln)
NM_004364.5(CEBPA):c.484C>A (p.Gln162Lys)
NM_004364.5(CEBPA):c.493C>A (p.Arg165Ser)
NM_004364.5(CEBPA):c.494G>A (p.Arg165His)
NM_004364.5(CEBPA):c.496G>A (p.Glu166Lys)
NM_004364.5(CEBPA):c.529G>C (p.Gly177Arg)
NM_004364.5(CEBPA):c.530G>A (p.Gly177Asp)
NM_004364.5(CEBPA):c.532C>T (p.Leu178Phe)
NM_004364.5(CEBPA):c.533T>C (p.Leu178Pro)
NM_004364.5(CEBPA):c.545A>T (p.Gln182Leu)
NM_004364.5(CEBPA):c.546GCC[10] (p.Pro187_Pro189dup) rs746430067
NM_004364.5(CEBPA):c.546GCC[3] (p.Pro186_Pro189del)
NM_004364.5(CEBPA):c.546GCC[4] (p.Pro187_Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[5] (p.Pro188_Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[6] (p.Pro189del) rs746430067
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004364.5(CEBPA):c.546GCC[9] (p.Pro188_Pro189dup)
NM_004364.5(CEBPA):c.556C>T (p.Pro186Ser)
NM_004364.5(CEBPA):c.557C>T (p.Pro186Leu)
NM_004364.5(CEBPA):c.563C>A (p.Pro188Gln)
NM_004364.5(CEBPA):c.566_567insGCCCTCGCA (p.Ser190_His191insProSerHis)
NM_004364.5(CEBPA):c.568T>C (p.Ser190Pro)
NM_004364.5(CEBPA):c.572ACCCGC[1] (p.191HP[1]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[5] (p.191HP[5]) rs762459325
NM_004364.5(CEBPA):c.572ACCCGC[6] (p.191HP[6])
NM_004364.5(CEBPA):c.583C>T (p.His195Tyr)
NM_004364.5(CEBPA):c.590C>T (p.Pro197Leu)
NM_004364.5(CEBPA):c.595G>A (p.Ala199Thr)
NM_004364.5(CEBPA):c.62G>T (p.Ser21Ile)
NM_004364.5(CEBPA):c.631G>A (p.Ala211Thr)
NM_004364.5(CEBPA):c.641G>T (p.Gly214Val)
NM_004364.5(CEBPA):c.649A>G (p.Thr217Ala)
NM_004364.5(CEBPA):c.64C>T (p.Pro22Ser)
NM_004364.5(CEBPA):c.652A>G (p.Met218Val)
NM_004364.5(CEBPA):c.67C>A (p.Pro23Thr)
NM_004364.5(CEBPA):c.67C>T (p.Pro23Ser)
NM_004364.5(CEBPA):c.68C>T (p.Pro23Leu)
NM_004364.5(CEBPA):c.698C>A (p.Pro233His)
NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp)
NM_004364.5(CEBPA):c.709C>T (p.Pro237Ser)
NM_004364.5(CEBPA):c.710C>G (p.Pro237Arg)
NM_004364.5(CEBPA):c.710CCGCGC[3] (p.237PA[3])
NM_004364.5(CEBPA):c.713C>T (p.Ala238Val)
NM_004364.5(CEBPA):c.716C>T (p.Pro239Leu)
NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr)
NM_004364.5(CEBPA):c.734G>C (p.Gly245Ala)
NM_004364.5(CEBPA):c.743G>A (p.Gly248Asp)
NM_004364.5(CEBPA):c.751A>G (p.Ser251Gly)
NM_004364.5(CEBPA):c.752G>C (p.Ser251Thr)
NM_004364.5(CEBPA):c.763G>A (p.Gly255Arg)
NM_004364.5(CEBPA):c.781C>T (p.Pro261Ser)
NM_004364.5(CEBPA):c.79A>G (p.Ser27Gly)
NM_004364.5(CEBPA):c.802G>A (p.Gly268Ser)
NM_004364.5(CEBPA):c.811G>T (p.Ala271Ser)
NM_004364.5(CEBPA):c.824A>G (p.Lys275Arg)
NM_004364.5(CEBPA):c.868G>T (p.Glu290Ter)
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro)
NM_004364.5(CEBPA):c.893A>G (p.Lys298Arg)
NM_004364.5(CEBPA):c.901G>A (p.Asp301Asn)
NM_004364.5(CEBPA):c.922G>A (p.Val308Met)
NM_004364.5(CEBPA):c.922G>T (p.Val308Leu)
NM_004364.5(CEBPA):c.926A>C (p.Glu309Ala)
NM_004364.5(CEBPA):c.931C>T (p.Gln311Ter)
NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly)
NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu)
NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu)
NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser)
NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp)
NM_004364.5(CEBPA):c.982_985del (p.Val328fs)
NM_004364.5(CEBPA):c.983T>G (p.Val328Gly)
NM_004716.4(PCSK7):c.1634A>C (p.Lys545Thr)
NM_004716.4(PCSK7):c.1678C>G (p.Arg560Gly)
NM_004972.4(JAK2):c.1641+6T>C
NM_004972.4(JAK2):c.2175A>G (p.Glu725=)
NM_004972.4(JAK2):c.3323A>G rs142269166
NM_005188.3(CBL):c.1463C>T (p.Ala488Val) rs377502790
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*701_*705dup rs752218261
NM_005373.2(MPL):c.*705del rs752218261
NM_005373.2(MPL):c.*86C>T rs777930147
NM_005373.2(MPL):c.*871G>A rs540648773
NM_005373.2(MPL):c.*882C>T rs777894453
NM_005373.2(MPL):c.*924C>G rs886046354
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1178C>T (p.Thr393Ile) rs779132175
NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) rs886046350
NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) rs886046351
NM_005373.2(MPL):c.1336G>A (p.Gly446Arg) rs561818288
NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1460C>T (p.Thr487Ile) rs770428240
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.173C>T (p.Ala58Val) rs6087
NM_005373.2(MPL):c.1744_1745del (p.Leu582fs) rs770402221
NM_005373.2(MPL):c.1805T>C (p.Met602Thr) rs770770219
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.212G>A (p.Arg71Gln) rs368753117
NM_005373.2(MPL):c.622C>A (p.Gln208Lys) rs111460954
NM_005373.2(MPL):c.655C>G (p.Gln219Glu) rs142737453
NM_005373.2(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.2(MPL):c.92T>C (p.Leu31Pro) rs878854771
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005373.3(MPL):c.1169G>A (p.Arg390His)
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile)
NM_005373.3(MPL):c.464A>T (p.Glu155Val)
NM_005373.3(MPL):c.548C>T (p.Thr183Met)
NM_005373.3(MPL):c.809G>A (p.Gly270Glu)
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)
NM_005373.3(MPL):c.988A>T (p.Ile330Phe)
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005896.4(IDH1):c.839C>T (p.Ser280Phe)
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) rs730881705
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) rs876658337
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) rs730881690
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705
NM_007194.4(CHEK2):c.1375+3A>G rs876659868
NM_007194.4(CHEK2):c.1376-13A>G rs1064793330
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) rs149991239
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) rs781678896
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) rs750984976
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696
NM_015338.5(ASXL1):c.1910C>G (p.Ala637Gly) rs769053835
NM_015885.4(PCF11):c.3225del (p.Phe1075fs) rs864309498
NM_016169.3(SUFU):c.839G>A (p.Arg280Gln) rs145704867
NM_016734.3(PAX5):c.701T>C (p.Leu234Pro) rs753068558
NM_017849.3(TMEM127):c.121A>G (p.Ile41Val) rs760633411
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys) rs992633976
NM_021926.4(ALX4):c.2T>C (p.Met1Thr)
NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe)
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) rs557257494
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536
NM_022455.4(NSD1):c.1478C>T (p.Pro493Leu) rs140583358
NM_022455.4(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.4(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231
NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)
NM_022904.3(RASAL3):c.-5C>G rs76267899
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp)
NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp)
NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) rs768223019
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.937-14G>A
NM_024426.6(WT1):c.1388G>C (p.Arg463Pro) rs1037084691
NM_024535.5(CORO7):c.2772+50C>T rs1555468179
NM_032638.5(GATA2):c.308C>T (p.Ala103Val)
NM_032638.5(GATA2):c.553C>T (p.Pro185Ser)
NM_033360.4(KRAS):c.112-5C>T rs376520586
NM_054021.1(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_058172.6(ANTXR2):c.*1085T>C
NM_058172.6(ANTXR2):c.*1099C>T
NM_058172.6(ANTXR2):c.*1113C>T
NM_058172.6(ANTXR2):c.*1114G>A
NM_058172.6(ANTXR2):c.*1126T>A
NM_058172.6(ANTXR2):c.*1133G>A
NM_058172.6(ANTXR2):c.*1136C>T
NM_058172.6(ANTXR2):c.*1295T>C
NM_058172.6(ANTXR2):c.*130A>G
NM_058172.6(ANTXR2):c.*1397G>A
NM_058172.6(ANTXR2):c.*1476G>A
NM_058172.6(ANTXR2):c.*1501G>T
NM_058172.6(ANTXR2):c.*1682T>C
NM_058172.6(ANTXR2):c.*1795G>A
NM_058172.6(ANTXR2):c.*2187A>C
NM_058172.6(ANTXR2):c.*2225A>G
NM_058172.6(ANTXR2):c.*2226A>T
NM_058172.6(ANTXR2):c.*2256T>C
NM_058172.6(ANTXR2):c.*2306A>G
NM_058172.6(ANTXR2):c.*2429G>A
NM_058172.6(ANTXR2):c.*2446C>T
NM_058172.6(ANTXR2):c.*245A>G
NM_058172.6(ANTXR2):c.*2550T>C
NM_058172.6(ANTXR2):c.*263C>T
NM_058172.6(ANTXR2):c.*2666A>C
NM_058172.6(ANTXR2):c.*2839G>T
NM_058172.6(ANTXR2):c.*2888G>A
NM_058172.6(ANTXR2):c.*2899A>G
NM_058172.6(ANTXR2):c.*2959C>G
NM_058172.6(ANTXR2):c.*3105A>G
NM_058172.6(ANTXR2):c.*3212T>C
NM_058172.6(ANTXR2):c.*3371C>A
NM_058172.6(ANTXR2):c.*3468A>G
NM_058172.6(ANTXR2):c.*3473A>G
NM_058172.6(ANTXR2):c.*3533G>A
NM_058172.6(ANTXR2):c.*3544A>G
NM_058172.6(ANTXR2):c.*3597T>G
NM_058172.6(ANTXR2):c.*3602A>G
NM_058172.6(ANTXR2):c.*3606A>G
NM_058172.6(ANTXR2):c.*3707G>A
NM_058172.6(ANTXR2):c.*380T>C
NM_058172.6(ANTXR2):c.*3843G>A
NM_058172.6(ANTXR2):c.*3888T>G
NM_058172.6(ANTXR2):c.*3953G>A
NM_058172.6(ANTXR2):c.*4058A>T
NM_058172.6(ANTXR2):c.*4194C>T
NM_058172.6(ANTXR2):c.*4201A>G
NM_058172.6(ANTXR2):c.*4223T>C
NM_058172.6(ANTXR2):c.*4264T>A
NM_058172.6(ANTXR2):c.*4332G>A
NM_058172.6(ANTXR2):c.*4462A>G
NM_058172.6(ANTXR2):c.*4504C>T
NM_058172.6(ANTXR2):c.*4576A>G
NM_058172.6(ANTXR2):c.*4668T>C
NM_058172.6(ANTXR2):c.*4703T>A
NM_058172.6(ANTXR2):c.*4712C>T
NM_058172.6(ANTXR2):c.*4847C>T
NM_058172.6(ANTXR2):c.*4917G>A
NM_058172.6(ANTXR2):c.*5266A>C
NM_058172.6(ANTXR2):c.*5310T>G
NM_058172.6(ANTXR2):c.*5358A>G
NM_058172.6(ANTXR2):c.*5413A>G
NM_058172.6(ANTXR2):c.*5524C>T
NM_058172.6(ANTXR2):c.*5525G>A
NM_058172.6(ANTXR2):c.*5527A>G
NM_058172.6(ANTXR2):c.*559G>A
NM_058172.6(ANTXR2):c.*5761A>G
NM_058172.6(ANTXR2):c.*702A>C
NM_058172.6(ANTXR2):c.*703C>T
NM_058172.6(ANTXR2):c.*728G>A
NM_058172.6(ANTXR2):c.*752C>G
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C
NM_058172.6(ANTXR2):c.-261G>T
NM_058172.6(ANTXR2):c.-262A>G rs886059660
NM_058172.6(ANTXR2):c.-266G>A
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410dup rs886059662
NM_058172.6(ANTXR2):c.-441C>T rs778888047
NM_058172.6(ANTXR2):c.-442C>G rs886059663
NM_058172.6(ANTXR2):c.-455C>T rs886059664
NM_058172.6(ANTXR2):c.-505G>C rs780730755
NM_058172.6(ANTXR2):c.-5G>A rs765908500
NM_058172.6(ANTXR2):c.-634C>T
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly)
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala)
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr)
NM_058172.6(ANTXR2):c.1347+9C>T rs112023055
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp)
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val)
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp)
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) rs886059658
NM_058172.6(ANTXR2):c.252G>A (p.Val84=) rs886059657
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val)
NM_058172.6(ANTXR2):c.637-21dup rs373672335
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile)
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) rs377185226
NM_058172.6(ANTXR2):c.796+3A>C
NM_058172.6(ANTXR2):c.945+7A>G
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841
NM_080425.3(GNAS):c.1200C>A (p.Ala400=) rs908810796
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter) rs1568748859
NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val) rs864309493
NM_172349.2(NSD1):c.31-22C>A rs144524958
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343
NM_207122.1(EXT2):c.-307G>T rs569630494
NM_207122.2(EXT2):c.*1153A>T rs185285766
NM_207122.2(EXT2):c.*339C>T
NM_207122.2(EXT2):c.*440A>G
NM_207122.2(EXT2):c.*672G>C
NM_207122.2(EXT2):c.*838T>G
NM_207122.2(EXT2):c.*862T>G
NM_207122.2(EXT2):c.*882G>T
NM_207122.2(EXT2):c.-45G>T
NM_207122.2(EXT2):c.1117G>A (p.Val373Met)
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr)
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys)
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys)
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=)
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys)
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys)
NM_207122.2(EXT2):c.1575T>A (p.Pro525=)
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp)
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys)
NM_207122.2(EXT2):c.1935G>A (p.Lys645=)
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
NM_207122.2(EXT2):c.198G>C (p.Val66=)
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu)
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val)
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr)
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp)
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln)
NM_207122.2(EXT2):c.261G>A (p.Met87Ile)
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr)
NM_207122.2(EXT2):c.343G>A (p.Val115Met)
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile)
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)
NM_207122.2(EXT2):c.520A>T (p.Met174Leu)
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del)
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser)
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
NM_207122.2(EXT2):c.65A>G (p.His22Arg)
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg)
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg)
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp)
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys)
NM_207122.2(EXT2):c.886G>C (p.Val296Leu)
NM_207122.2(EXT2):c.890G>A (p.Arg297His)
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu)
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)

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