ClinVar Miner

List of variants studied for connective tissue neoplasm by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 595
Download table as spreadsheet
HGVS dbSNP
NC_000011.10:g.44095641G>T
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.1065C>T (p.Cys355=) rs11546829
NM_000127.2(EXT1):c.1066G>A (p.Val356Ile) rs61753260
NM_000127.2(EXT1):c.114A>G (p.Glu38=) rs17506447
NM_000127.2(EXT1):c.1239G>T (p.Glu413Asp) rs756701753
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.1431C>T (p.Pro477=) rs17439693
NM_000127.2(EXT1):c.1536+7G>A rs200128437
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.1959G>A (p.Glu653=) rs142710059
NM_000127.2(EXT1):c.210A>G (p.Gln70=) rs367543871
NM_000127.2(EXT1):c.214G>A (p.Glu72Lys) rs150818931
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.1266T>A (p.Ile422=)
NM_000127.3(EXT1):c.1417+6T>C
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=)
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779
NM_000127.3(EXT1):c.1749G>C (p.Gln583His)
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly)
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=)
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser)
NM_000127.3(EXT1):c.66T>C (p.Tyr22=)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu)
NM_000388.4(CASR):c.*1011T>A
NM_000388.4(CASR):c.*1015A>G rs9740
NM_000388.4(CASR):c.*103A>C rs199899073
NM_000388.4(CASR):c.*1093C>T rs1802757
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.*1198T>C rs10190
NM_000388.4(CASR):c.*1201C>T rs886057837
NM_000388.4(CASR):c.*1235A>G rs34042920
NM_000388.4(CASR):c.*1298A>G
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*251G>C
NM_000388.4(CASR):c.*574C>G rs6438718
NM_000388.4(CASR):c.*60A>T rs4677948
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.*87C>T rs202045621
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.-378del rs537119483
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
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.1775A>G (p.Asn592Ser) rs117375173
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.2610G>A (p.Glu870=) rs143738711
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999
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.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636
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.573G>A (p.Glu191=) rs141631116
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.748G>A (p.Glu250Lys) rs62269092
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357
NM_000401.3(EXT2):c.*101G>C rs117755165
NM_000401.3(EXT2):c.*129C>G rs141864253
NM_000401.3(EXT2):c.*139C>G rs191451519
NM_000401.3(EXT2):c.*368C>T rs886048279
NM_000401.3(EXT2):c.*381T>C rs886048280
NM_000401.3(EXT2):c.*3C>T rs542907948
NM_000401.3(EXT2):c.*472C>T rs74424177
NM_000401.3(EXT2):c.*56G>A rs77554103
NM_000401.3(EXT2):c.*646C>T rs189528648
NM_000401.3(EXT2):c.*731A>G rs886048281
NM_000401.3(EXT2):c.*795C>A rs76505631
NM_000401.3(EXT2):c.*802A>G rs531942530
NM_000401.3(EXT2):c.*93G>A rs886048278
NM_000401.3(EXT2):c.*945G>A rs886048282
NM_000401.3(EXT2):c.1017C>T (p.Phe339=) rs35436405
NM_000401.3(EXT2):c.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.107C>T (p.Ala36Val) rs201185639
NM_000401.3(EXT2):c.1098T>C (p.Asp366=) rs61733300
NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) rs527624522
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
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.1122G>A (p.Pro374=) rs757323768
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.1209G>T (p.Met403Ile) rs34084767
NM_000401.3(EXT2):c.1222A>G (p.Ser408Gly) rs369029338
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.127C>A (p.Arg43=) rs4755228
NM_000401.3(EXT2):c.1307T>C (p.Ile436Thr) rs530523884
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.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1740C>T (p.Asp580=) rs75987184
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) rs142565472
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.1905+11G>A rs372517964
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.2034+11C>G rs764143899
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
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.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.363C>T (p.His121=) rs35455466
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
NM_000401.3(EXT2):c.618G>C (p.Ala206=) rs148121594
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.74G>T (p.Cys25Phe) rs369437823
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.843-10T>G rs200943294
NM_000401.3(EXT2):c.904C>T (p.Leu302=) rs773486418
NM_000401.3(EXT2):c.948C>T (p.Leu316=) rs749093709
NM_000401.3(EXT2):c.959C>A (p.Thr320Asn) rs886048275
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_000460.4(THPO):c.*108C>T
NM_000460.4(THPO):c.*18G>A rs180680111
NM_000460.4(THPO):c.*191T>G
NM_000460.4(THPO):c.*27A>G
NM_000460.4(THPO):c.*35G>A rs6141
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.*482A>T rs3804618
NM_000460.4(THPO):c.*500A>G rs886058217
NM_000460.4(THPO):c.*59G>A rs78565404
NM_000460.4(THPO):c.-123C>T rs535707667
NM_000460.4(THPO):c.-136T>C rs956732
NM_000460.4(THPO):c.-215T>A rs886058219
NM_000460.4(THPO):c.-56G>A rs187556243
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435
NM_000460.4(THPO):c.14-11C>T
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698
NM_000460.4(THPO):c.303A>G (p.Gln101=) rs775232517
NM_000460.4(THPO):c.310C>A (p.Pro104Thr)
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798
NM_000460.4(THPO):c.517G>A (p.Val173Ile) rs780992873
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.852G>A (p.Leu284=)
NM_000460.4(THPO):c.889A>G (p.Thr297Ala) rs530613857
NM_000460.4(THPO):c.963C>T (p.His321=)
NM_001286780.2(ANTXR2):c.-80+121A>T rs886059665
NM_002451.3(MTAP):c.-117T>C rs545625466
NM_002451.4(MTAP):c.*102A>G rs755040797
NM_002451.4(MTAP):c.*1038A>G rs180861815
NM_002451.4(MTAP):c.*1065A>G rs187215052
NM_002451.4(MTAP):c.*1093G>T
NM_002451.4(MTAP):c.*1105del rs200216058
NM_002451.4(MTAP):c.*1140A>G rs886063785
NM_002451.4(MTAP):c.*1181A>G rs182505150
NM_002451.4(MTAP):c.*1197C>G rs886063786
NM_002451.4(MTAP):c.*1225G>A rs556119629
NM_002451.4(MTAP):c.*1341C>T rs111408881
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.*15C>A
NM_002451.4(MTAP):c.*1608del rs886063787
NM_002451.4(MTAP):c.*1621_*1622del rs11358276
NM_002451.4(MTAP):c.*1622del rs11358276
NM_002451.4(MTAP):c.*1643G>T rs79546636
NM_002451.4(MTAP):c.*1668T>C
NM_002451.4(MTAP):c.*1729G>A rs182527165
NM_002451.4(MTAP):c.*1760A>G rs886063788
NM_002451.4(MTAP):c.*17A>G rs553057304
NM_002451.4(MTAP):c.*1831T>A rs886063789
NM_002451.4(MTAP):c.*1836C>G
NM_002451.4(MTAP):c.*1936C>T rs117552951
NM_002451.4(MTAP):c.*2033G>A
NM_002451.4(MTAP):c.*2085G>A rs10117507
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.*2188C>T
NM_002451.4(MTAP):c.*2238C>T rs150727017
NM_002451.4(MTAP):c.*2255A>G rs79020697
NM_002451.4(MTAP):c.*2269A>T
NM_002451.4(MTAP):c.*2279T>G rs529226542
NM_002451.4(MTAP):c.*2286A>G
NM_002451.4(MTAP):c.*2333C>G
NM_002451.4(MTAP):c.*2348dup rs397972510
NM_002451.4(MTAP):c.*2365C>T rs10117550
NM_002451.4(MTAP):c.*2383C>T rs886063791
NM_002451.4(MTAP):c.*2481T>C
NM_002451.4(MTAP):c.*2522A>G rs3802394
NM_002451.4(MTAP):c.*2539A>G rs10123713
NM_002451.4(MTAP):c.*254A>T
NM_002451.4(MTAP):c.*258A>C rs15735
NM_002451.4(MTAP):c.*258del rs886063782
NM_002451.4(MTAP):c.*259C>A rs78195856
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.*2873C>T rs75664572
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.*3093T>C rs4977735
NM_002451.4(MTAP):c.*3144G>A rs148910202
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.*328T>C rs150414950
NM_002451.4(MTAP):c.*3307G>T rs41270139
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.*3829T>C rs6475592
NM_002451.4(MTAP):c.*3851C>G rs76751525
NM_002451.4(MTAP):c.*3862C>T rs560167088
NM_002451.4(MTAP):c.*3916C>T rs80226037
NM_002451.4(MTAP):c.*393G>C rs78389853
NM_002451.4(MTAP):c.*3943G>A rs886063794
NM_002451.4(MTAP):c.*3946A>C rs10965168
NM_002451.4(MTAP):c.*395A>G
NM_002451.4(MTAP):c.*536G>A rs1134870
NM_002451.4(MTAP):c.*606A>G rs566061531
NM_002451.4(MTAP):c.*657T>C rs146095448
NM_002451.4(MTAP):c.*707A>G rs138936486
NM_002451.4(MTAP):c.*730A>G
NM_002451.4(MTAP):c.*775dup rs58147941
NM_002451.4(MTAP):c.*795A>T
NM_002451.4(MTAP):c.*797C>T rs58555715
NM_002451.4(MTAP):c.*804T>C rs142144597
NM_002451.4(MTAP):c.*884T>A rs1134871
NM_002451.4(MTAP):c.*895G>A rs41270137
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.-5C>G rs375344882
NM_002451.4(MTAP):c.111A>G (p.Pro37=)
NM_002451.4(MTAP):c.119A>G (p.Lys40Arg)
NM_002451.4(MTAP):c.121-10T>C rs201864201
NM_002451.4(MTAP):c.136A>C (p.Ile46Leu)
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954
NM_002451.4(MTAP):c.179+12T>A rs369294437
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.315C>T (p.Gly105=) rs147319145
NM_002451.4(MTAP):c.39A>C (p.Gly13=) rs139020435
NM_002451.4(MTAP):c.561C>T (p.Arg187=) rs10965163
NM_002451.4(MTAP):c.566G>T (p.Trp189Leu) rs184520335
NM_002451.4(MTAP):c.603G>A (p.Glu201=) rs189392570
NM_002451.4(MTAP):c.653C>T (p.Ala218Val) rs143080527
NM_002451.4(MTAP):c.691-13A>G rs77412364
NM_002451.4(MTAP):c.768T>G (p.Pro256=) rs62556500
NM_002451.4(MTAP):c.788G>T (p.Trp263Leu)
NM_003977.4(AIP):c.*60G>C rs146014363
NM_003977.4(AIP):c.*64G>A rs115346238
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-23A>G rs200665479
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-84C>G rs540839310
NM_003977.4(AIP):c.-85C>T
NM_003977.4(AIP):c.102C>G (p.Ala34=) rs886048584
NM_003977.4(AIP):c.132C>T (p.Asp44=) rs11822907
NM_003977.4(AIP):c.144C>T (p.Thr48=) rs772658134
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.301G>A (p.Val101Met) rs147931650
NM_003977.4(AIP):c.366C>T (p.Cys122=) rs748883061
NM_003977.4(AIP):c.36G>A (p.Gly12=) rs79662690
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.468+3G>A rs868823652
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094
NM_003977.4(AIP):c.516C>T (p.Asp172=) rs2276020
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236
NM_003977.4(AIP):c.571C>T (p.Arg191Cys) rs189861025
NM_003977.4(AIP):c.573C>T (p.Arg191=) rs781545373
NM_003977.4(AIP):c.591G>A (p.Glu197=) rs202006716
NM_003977.4(AIP):c.609C>T (p.Tyr203=) rs146317385
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.682C>A (p.Gln228Lys) rs641081
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662
NM_003977.4(AIP):c.753G>A (p.Leu251=) rs147351993
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_003977.4(AIP):c.891C>A (p.Ala297=) rs35665586
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773
NM_003977.4(AIP):c.906G>A (p.Val302=) rs142912418
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_003977.4(AIP):c.920= (p.Arg307=) rs4930199
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585
NM_005373.2(MPL):c.*1054G>A rs139528456
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1116G>A rs144177827
NM_005373.2(MPL):c.*1126A>G rs543250497
NM_005373.2(MPL):c.*1180G>A rs117166528
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1486T>C rs149940158
NM_005373.2(MPL):c.*1506G>A rs115780311
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*1603A>C rs142139493
NM_005373.2(MPL):c.*1674A>T rs536844021
NM_005373.2(MPL):c.*364C>T rs138892634
NM_005373.2(MPL):c.*400C>T rs558390922
NM_005373.2(MPL):c.*573G>A rs192016153
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*662C>T rs1763698
NM_005373.2(MPL):c.*701_*705dup rs752218261
NM_005373.2(MPL):c.*705del rs752218261
NM_005373.2(MPL):c.*709C>T rs185654501
NM_005373.2(MPL):c.*748C>T rs190071085
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.*94C>A rs77858532
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) rs139770726
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.1120A>G (p.Thr374Ala) rs190983971
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
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.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1570C>T (p.Leu524=) rs146372205
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
NM_005373.2(MPL):c.1666G>T (p.Val556Phe) rs150004498
NM_005373.2(MPL):c.1794C>T (p.Cys598=) rs143457144
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.210G>A (p.Pro70=) rs6086
NM_005373.2(MPL):c.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.690+11C>T rs144769485
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851
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.*1521A>G
NM_058172.6(ANTXR2):c.*1558C>T
NM_058172.6(ANTXR2):c.*1563A>G
NM_058172.6(ANTXR2):c.*1663G>A
NM_058172.6(ANTXR2):c.*1671T>G
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.*2245G>A
NM_058172.6(ANTXR2):c.*2256T>C
NM_058172.6(ANTXR2):c.*2303A>C
NM_058172.6(ANTXR2):c.*2306A>G
NM_058172.6(ANTXR2):c.*2429G>A
NM_058172.6(ANTXR2):c.*242A>G
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.*28C>T
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.*336C>T
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.*3649T>A
NM_058172.6(ANTXR2):c.*3695T>C
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.*3902C>T
NM_058172.6(ANTXR2):c.*3953G>A
NM_058172.6(ANTXR2):c.*4056T>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.*4272C>T
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.*4630A>T
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.*4856C>T
NM_058172.6(ANTXR2):c.*4917G>A
NM_058172.6(ANTXR2):c.*5223G>T
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.*5425G>A
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.*5547T>C
NM_058172.6(ANTXR2):c.*559G>A
NM_058172.6(ANTXR2):c.*5602C>G
NM_058172.6(ANTXR2):c.*5761A>G
NM_058172.6(ANTXR2):c.*677C>T
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.*784T>G
NM_058172.6(ANTXR2):c.*785T>C
NM_058172.6(ANTXR2):c.*947T>C
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C
NM_058172.6(ANTXR2):c.-230_-229del rs80314910
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.-319C>G rs11557908
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410G>A rs72869605
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.-590A>T rs142313419
NM_058172.6(ANTXR2):c.-5G>A rs765908500
NM_058172.6(ANTXR2):c.-634C>T
NM_058172.6(ANTXR2):c.-82C>A rs13140055
NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly)
NM_058172.6(ANTXR2):c.1179+3T>C
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.1360G>A (p.Ala454Thr)
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp)
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055
NM_058172.6(ANTXR2):c.225-4G>A rs141355689
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.324T>C (p.Asp108=) rs184413338
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646
NM_058172.6(ANTXR2):c.378+8A>C rs4594664
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val)
NM_058172.6(ANTXR2):c.637-10del rs373672335
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.796+9C>T rs113482034
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg) rs202143525
NM_058172.6(ANTXR2):c.945+7A>G
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841
NM_207122.1(EXT2):c.-148G>A rs115238130
NM_207122.1(EXT2):c.-197C>G rs78395259
NM_207122.1(EXT2):c.-307G>T rs569630494
NM_207122.1(EXT2):c.-31+7G>T rs58861092
NM_207122.1(EXT2):c.-311G>A rs3923808
NM_207122.1(EXT2):c.-331T>C rs10458911
NM_207122.1(EXT2):c.-61C>G rs12800404
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.1249C>T (p.Arg417Trp)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln)
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.1726G>A (p.Glu576Lys)
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.2019-14T>C
NM_207122.2(EXT2):c.201G>A (p.Pro67=)
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu)

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