ClinVar Miner

List of variants reported as likely benign for connective tissue neoplasm by Invitae

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
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HGVS dbSNP
NM_000127.2(EXT1):c.1066G>A (p.Val356Ile) rs61753260
NM_000127.2(EXT1):c.1359C>T (p.Phe453=) rs148922894
NM_000127.2(EXT1):c.1779C>T (p.Pro593=) rs143881630
NM_000127.2(EXT1):c.591C>T (p.Ser197=) rs770795716
NM_000127.2(EXT1):c.609C>T (p.Tyr203=) rs886042484
NM_000127.3(EXT1):c.1014T>G (p.Arg338=)
NM_000127.3(EXT1):c.123C>T (p.Ser41=) rs1186563531
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
NM_000127.3(EXT1):c.1338C>T (p.Asn446=)
NM_000127.3(EXT1):c.147C>T (p.Pro49=)
NM_000127.3(EXT1):c.1503C>T (p.Leu501=)
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile)
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala)
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779
NM_000127.3(EXT1):c.1758T>C (p.Pro586=)
NM_000127.3(EXT1):c.1839G>A (p.Thr613=) rs765677175
NM_000127.3(EXT1):c.1872T>C (p.Ala624=)
NM_000127.3(EXT1):c.1899A>G (p.Leu633=) rs368191286
NM_000127.3(EXT1):c.1920C>T (p.Ala640=)
NM_000127.3(EXT1):c.2010C>T (p.Ile670=)
NM_000127.3(EXT1):c.2172C>T (p.Leu724=)
NM_000127.3(EXT1):c.2199C>T (p.Val733=)
NM_000127.3(EXT1):c.543C>T (p.Leu181=)
NM_000127.3(EXT1):c.768C>T (p.Ile256=) rs566692634
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_000401.3(EXT2):c.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.107C>T (p.Ala36Val) rs201185639
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
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.843-10T>G rs200943294
NM_001285829.1(CEBPA):c.-148G>A rs1432277634
NM_001285829.1(CEBPA):c.-184C>T rs878854699
NM_001285829.1(CEBPA):c.-220T>C rs1387400759
NM_001285829.1(CEBPA):c.-226C>T rs1060504474
NM_001285829.1(CEBPA):c.-229C>A rs1060504476
NM_001285829.1(CEBPA):c.-241C>T rs1318381484
NM_001285829.1(CEBPA):c.-244C>A rs1600024309
NM_001285829.1(CEBPA):c.-247G>C rs1323312485
NM_001285829.1(CEBPA):c.-28C>T rs1207839159
NM_001285829.1(CEBPA):c.-319C>G rs1015459376
NM_001285829.1(CEBPA):c.-319C>T rs1015459376
NM_001285829.1(CEBPA):c.-70C>A rs919975422
NM_002609.4(PDGFRB):c.1244-4G>A rs1580805805
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) rs199873101
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) rs540480924
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) rs142992960
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) rs371192118
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=) rs1580804718
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=)
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) rs199649903
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=) rs753622898
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=)
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=) rs192355633
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) rs555800957
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) rs55830572
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) rs147303614
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) rs144234864
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=)
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) rs370594710
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) rs35731372
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) rs75748462
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) rs776113877
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) rs375836509
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) rs141511317
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=) rs751600349
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=)
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser)
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=)
NM_002609.4(PDGFRB):c.726G>C (p.Val242=) rs149027530
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)
NM_004364.4(CEBPA):c.1020C>A (p.Gly340=) rs1226278699
NM_004364.4(CEBPA):c.117C>A (p.Pro39=) rs1318381484
NM_004364.4(CEBPA):c.120G>T (p.Ala40=) rs1555742292
NM_004364.4(CEBPA):c.138T>A (p.Pro46=) rs1387400759
NM_004364.4(CEBPA):c.153G>C (p.Pro51=) rs1054442664
NM_004364.4(CEBPA):c.153G>T (p.Pro51=) rs1054442664
NM_004364.4(CEBPA):c.159C>T (p.Gly53=) rs1555742279
NM_004364.4(CEBPA):c.165C>T (p.Ile55=) rs1600024047
NM_004364.4(CEBPA):c.180G>T (p.Thr60=) rs1243562179
NM_004364.4(CEBPA):c.252C>T (p.His84=) rs878854700
NM_004364.4(CEBPA):c.27G>A (p.Ala9=) rs1555742328
NM_004364.4(CEBPA):c.27G>T (p.Ala9=) rs1555742328
NM_004364.4(CEBPA):c.318T>C (p.Phe106=) rs1555742225
NM_004364.4(CEBPA):c.345C>T (p.Pro115=) rs1001507122
NM_004364.4(CEBPA):c.357C>T (p.Val119=) rs1600023390
NM_004364.4(CEBPA):c.363C>A (p.Pro121=) rs1042672907
NM_004364.4(CEBPA):c.387C>A (p.Pro129=) rs1060504477
NM_004364.4(CEBPA):c.387C>G (p.Pro129=) rs1060504477
NM_004364.4(CEBPA):c.396C>T (p.Gly132=) rs1060504475
NM_004364.4(CEBPA):c.429G>A (p.Leu143=) rs1429417241
NM_004364.4(CEBPA):c.459G>A (p.Pro153=) rs779373951
NM_004364.4(CEBPA):c.462G>C (p.Ala154=) rs1481499354
NM_004364.4(CEBPA):c.468G>A (p.Arg156=) rs921129497
NM_004364.4(CEBPA):c.501G>A (p.Glu167=) rs1277875501
NM_004364.4(CEBPA):c.522G>A (p.Ala174=) rs1272249243
NM_004364.4(CEBPA):c.522G>T (p.Ala174=) rs1272249243
NM_004364.4(CEBPA):c.534C>T (p.Leu178=) rs1600022850
NM_004364.4(CEBPA):c.547C>A (p.Pro183Thr) rs998501847
NM_004364.4(CEBPA):c.558G>A (p.Pro186=) rs1338027134
NM_004364.4(CEBPA):c.576G>A (p.Pro192=) rs878854703
NM_004364.4(CEBPA):c.576G>T (p.Pro192=) rs878854703
NM_004364.4(CEBPA):c.591G>A (p.Pro197=) rs1253794663
NM_004364.4(CEBPA):c.603G>A (p.Leu201=) rs1555742086
NM_004364.4(CEBPA):c.633G>T (p.Ala211=) rs1345901618
NM_004364.4(CEBPA):c.642C>T (p.Gly214=) rs1301372441
NM_004364.4(CEBPA):c.666C>A (p.Pro222=) rs1184004794
NM_004364.4(CEBPA):c.666C>G (p.Pro222=) rs1184004794
NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) rs535980233
NM_004364.4(CEBPA):c.684G>A (p.Pro228=) rs1199384366
NM_004364.4(CEBPA):c.696G>T (p.Val232=) rs1213133617
NM_004364.4(CEBPA):c.705G>T (p.Pro235=) rs1600022049
NM_004364.4(CEBPA):c.723C>G (p.Leu241=) rs1408787997
NM_004364.4(CEBPA):c.735C>T (p.Gly245=) rs925688689
NM_004364.4(CEBPA):c.741G>C (p.Pro247=) rs1600021917
NM_004364.4(CEBPA):c.750C>A (p.Gly250=) rs1280706388
NM_004364.4(CEBPA):c.756G>C (p.Ala252=) rs571969199
NM_004364.4(CEBPA):c.762G>A (p.Lys254=) rs1366451304
NM_004364.4(CEBPA):c.765G>T (p.Gly255=) rs1163957359
NM_004364.4(CEBPA):c.786C>T (p.Asp262=) rs747881336
NM_004364.4(CEBPA):c.789C>T (p.Leu263=) rs552131738
NM_004364.4(CEBPA):c.798T>C (p.Ser266=) rs528683666
NM_004364.4(CEBPA):c.810C>G (p.Gly270=) rs1480870823
NM_004364.4(CEBPA):c.816C>G (p.Gly272=) rs750852645
NM_004364.4(CEBPA):c.819G>A (p.Lys273=) rs1600021510
NM_004364.4(CEBPA):c.831G>T (p.Ser277=) rs764419883
NM_004364.4(CEBPA):c.861_862delinsAA (p.Val287_Arg288=) rs1600021341
NM_004364.4(CEBPA):c.867C>G (p.Arg289=) rs1285276568
NM_004364.4(CEBPA):c.87C>T (p.Ala29=) rs1600024411
NM_004364.4(CEBPA):c.882C>T (p.Ile294=) rs376093748
NM_004364.4(CEBPA):c.888G>A (p.Val296=) rs772999335
NM_004364.4(CEBPA):c.897C>T (p.Ser299=) rs893018541
NM_004364.4(CEBPA):c.909C>T (p.Ala303=) rs371444741
NM_004364.4(CEBPA):c.918C>A (p.Arg306=) rs773844593
NM_004364.4(CEBPA):c.939G>A (p.Lys313=) rs1600021081
NM_004364.4(CEBPA):c.942G>T (p.Val314=) rs377329266
NM_004364.4(CEBPA):c.948G>A (p.Glu316=) rs1600021056
NM_004364.4(CEBPA):c.960C>T (p.Asp320=) rs746447033
NM_004364.4(CEBPA):c.990G>A (p.Gln330=) rs375876732
NM_004364.5(CEBPA):c.1017G>C (p.Arg339=)
NM_004364.5(CEBPA):c.1020C>T (p.Gly340=)
NM_004364.5(CEBPA):c.105G>A (p.Arg35=)
NM_004364.5(CEBPA):c.1071C>T (p.Cys357=)
NM_004364.5(CEBPA):c.1074G>T (p.Ala358=)
NM_004364.5(CEBPA):c.108C>A (p.Gly36=)
NM_004364.5(CEBPA):c.108C>T (p.Gly36=)
NM_004364.5(CEBPA):c.111G>A (p.Ala37=)
NM_004364.5(CEBPA):c.129C>T (p.Pro43=)
NM_004364.5(CEBPA):c.141C>T (p.Ala47=)
NM_004364.5(CEBPA):c.156G>A (p.Leu52=)
NM_004364.5(CEBPA):c.177G>A (p.Glu59=)
NM_004364.5(CEBPA):c.183C>T (p.Ser61=)
NM_004364.5(CEBPA):c.186C>A (p.Ile62=)
NM_004364.5(CEBPA):c.186C>T (p.Ile62=)
NM_004364.5(CEBPA):c.222C>T (p.Asn74=)
NM_004364.5(CEBPA):c.24G>A (p.Glu8=)
NM_004364.5(CEBPA):c.285G>A (p.Val95=)
NM_004364.5(CEBPA):c.294G>A (p.Thr98=)
NM_004364.5(CEBPA):c.296GCG[7] (p.Gly104dup) rs780345232
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.297C>A (p.Gly99=)
NM_004364.5(CEBPA):c.312C>G (p.Gly104=)
NM_004364.5(CEBPA):c.315C>T (p.Asp105=)
NM_004364.5(CEBPA):c.327G>C (p.Pro109=)
NM_004364.5(CEBPA):c.330C>A (p.Gly110=)
NM_004364.5(CEBPA):c.330C>G (p.Gly110=)
NM_004364.5(CEBPA):c.339G>A (p.Ala113=)
NM_004364.5(CEBPA):c.348C>A (p.Gly116=)
NM_004364.5(CEBPA):c.363C>T (p.Pro121=)
NM_004364.5(CEBPA):c.366G>C (p.Gly122=)
NM_004364.5(CEBPA):c.36G>A (p.Arg12=)
NM_004364.5(CEBPA):c.375C>T (p.His125=)
NM_004364.5(CEBPA):c.408C>A (p.Ala136=)
NM_004364.5(CEBPA):c.447C>T (p.Arg149=)
NM_004364.5(CEBPA):c.453G>A (p.Gly151=)
NM_004364.5(CEBPA):c.453G>T (p.Gly151=)
NM_004364.5(CEBPA):c.459G>C (p.Pro153=)
NM_004364.5(CEBPA):c.462G>A (p.Ala154=)
NM_004364.5(CEBPA):c.477G>A (p.Val159=)
NM_004364.5(CEBPA):c.525G>A (p.Leu175=)
NM_004364.5(CEBPA):c.528C>A (p.Ala176=)
NM_004364.5(CEBPA):c.555G>A (p.Pro185=)
NM_004364.5(CEBPA):c.567C>T (p.Pro189=)
NM_004364.5(CEBPA):c.57G>A (p.Leu19=)
NM_004364.5(CEBPA):c.594C>A (p.Pro198=)
NM_004364.5(CEBPA):c.609C>G (p.Ala203=)
NM_004364.5(CEBPA):c.666C>T (p.Pro222=)
NM_004364.5(CEBPA):c.720G>T (p.Ala240=)
NM_004364.5(CEBPA):c.723C>A (p.Leu241=)
NM_004364.5(CEBPA):c.729C>T (p.Ala243=)
NM_004364.5(CEBPA):c.766C>T (p.Leu256=)
NM_004364.5(CEBPA):c.777G>T (p.Ala259=)
NM_004364.5(CEBPA):c.780C>T (p.His260=)
NM_004364.5(CEBPA):c.783C>T (p.Pro261=)
NM_004364.5(CEBPA):c.792C>T (p.Arg264=)
NM_004364.5(CEBPA):c.81C>T (p.Ser27=)
NM_004364.5(CEBPA):c.822C>T (p.Ala274=)
NM_004364.5(CEBPA):c.837C>T (p.Asp279=)
NM_004364.5(CEBPA):c.84C>T (p.Ser28=)
NM_004364.5(CEBPA):c.861G>A (p.Val287=)
NM_004364.5(CEBPA):c.894G>A (p.Lys298=)
NM_004364.5(CEBPA):c.900C>G (p.Arg300=)
NM_004364.5(CEBPA):c.945G>A (p.Leu315=)
NM_004364.5(CEBPA):c.954C>T (p.Thr318=)
NM_004364.5(CEBPA):c.963T>C (p.Asn321=)
NM_004364.5(CEBPA):c.987A>G (p.Glu329=)
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.1570C>T (p.Leu524=) rs146372205
NM_005373.2(MPL):c.1803C>T (p.Thr601=) rs140794721
NM_005373.2(MPL):c.549G>A (p.Thr183=) rs147130173
NM_005373.2(MPL):c.677C>A (p.Ser226Tyr) rs141063159
NM_005373.2(MPL):c.754T>C (p.Tyr252His) rs141311765
NM_005373.2(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418
NM_005373.3(MPL):c.1014G>A (p.Glu338=)
NM_005373.3(MPL):c.1023T>C (p.Asn341=)
NM_005373.3(MPL):c.1053C>T (p.Arg351=) rs753608517
NM_005373.3(MPL):c.1116G>A (p.Pro372=)
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171
NM_005373.3(MPL):c.1140C>G (p.Gly380=)
NM_005373.3(MPL):c.1165+10T>C
NM_005373.3(MPL):c.1165+8C>A
NM_005373.3(MPL):c.1166-4G>A rs753315546
NM_005373.3(MPL):c.1167G>A (p.Val389=)
NM_005373.3(MPL):c.1197G>A (p.Arg399=)
NM_005373.3(MPL):c.120T>C (p.Cys40=)
NM_005373.3(MPL):c.1242G>A (p.Ser414=)
NM_005373.3(MPL):c.1242G>C (p.Ser414=)
NM_005373.3(MPL):c.1308+8C>A
NM_005373.3(MPL):c.1308+8C>G
NM_005373.3(MPL):c.1309-6G>A
NM_005373.3(MPL):c.1320G>C (p.Pro440=)
NM_005373.3(MPL):c.1338A>G (p.Gly446=)
NM_005373.3(MPL):c.1356C>T (p.Arg452=)
NM_005373.3(MPL):c.1359G>A (p.Pro453=)
NM_005373.3(MPL):c.1401C>T (p.Gly467=)
NM_005373.3(MPL):c.1446G>A (p.Arg482=)
NM_005373.3(MPL):c.1455C>A (p.Thr485=) rs1420201893
NM_005373.3(MPL):c.1468+10G>A
NM_005373.3(MPL):c.1469-10T>C
NM_005373.3(MPL):c.1488C>T (p.Thr496=)
NM_005373.3(MPL):c.1536G>A (p.Leu512=)
NM_005373.3(MPL):c.1566-7C>T
NM_005373.3(MPL):c.1566-8T>C
NM_005373.3(MPL):c.1572G>C (p.Leu524=)
NM_005373.3(MPL):c.1573A>C (p.Arg525=)
NM_005373.3(MPL):c.1584G>A (p.Leu528=)
NM_005373.3(MPL):c.1629T>C (p.Leu543=)
NM_005373.3(MPL):c.1632G>A (p.Arg544=)
NM_005373.3(MPL):c.1635C>T (p.Asp545=)
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574
NM_005373.3(MPL):c.1653+7G>A
NM_005373.3(MPL):c.1654-5C>A
NM_005373.3(MPL):c.1654-5C>T
NM_005373.3(MPL):c.1704T>C (p.Leu568=) rs1428589548
NM_005373.3(MPL):c.1719G>A (p.Lys573=)
NM_005373.3(MPL):c.174G>A (p.Ala58=) rs141077413
NM_005373.3(MPL):c.1773C>T (p.Tyr591=)
NM_005373.3(MPL):c.1809C>G (p.Pro603=)
NM_005373.3(MPL):c.1818G>A (p.Val606=)
NM_005373.3(MPL):c.198G>A (p.Leu66=)
NM_005373.3(MPL):c.231C>T (p.Cys77=) rs747378368
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640
NM_005373.3(MPL):c.255C>T (p.Pro85=)
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904
NM_005373.3(MPL):c.279C>T (p.Cys93=)
NM_005373.3(MPL):c.27C>T (p.Val9=)
NM_005373.3(MPL):c.306T>A (p.Arg102=)
NM_005373.3(MPL):c.315T>C (p.Phe105=)
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905
NM_005373.3(MPL):c.333G>A (p.Val111=)
NM_005373.3(MPL):c.391+7G>A
NM_005373.3(MPL):c.392-9T>C
NM_005373.3(MPL):c.408C>A (p.Pro136=)
NM_005373.3(MPL):c.408C>G (p.Pro136=)
NM_005373.3(MPL):c.420G>A (p.Lys140=)
NM_005373.3(MPL):c.423C>T (p.Ala141=)
NM_005373.3(MPL):c.468G>A (p.Glu156=)
NM_005373.3(MPL):c.492C>T (p.Phe164=)
NM_005373.3(MPL):c.501C>T (p.Tyr167=)
NM_005373.3(MPL):c.513T>C (p.Tyr171=)
NM_005373.3(MPL):c.531G>A (p.Lys177=)
NM_005373.3(MPL):c.534C>T (p.Asn178=)
NM_005373.3(MPL):c.540T>C (p.Thr180=)
NM_005373.3(MPL):c.561G>A (p.Leu187=) rs1570465392
NM_005373.3(MPL):c.579C>T (p.Cys193=)
NM_005373.3(MPL):c.723C>T (p.Cys241=)
NM_005373.3(MPL):c.768G>A (p.Leu256=) rs1570465882
NM_005373.3(MPL):c.774C>T (p.Ser258=) rs746721066
NM_005373.3(MPL):c.79+7T>C
NM_005373.3(MPL):c.795C>T (p.Leu265=)
NM_005373.3(MPL):c.80-7T>C
NM_005373.3(MPL):c.921C>T (p.Asp307=)
NM_005373.3(MPL):c.933C>T (p.Ser311=)
NM_005373.3(MPL):c.936A>G (p.Gln312=)
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505
NM_005373.3(MPL):c.972C>T (p.Pro324=)
NM_005373.3(MPL):c.978C>T (p.Asp326=)
NM_005373.3(MPL):c.984C>T (p.Tyr328=)
NM_005373.3(MPL):c.987C>A (p.Pro329=)
NM_005373.3(MPL):c.999C>T (p.Asn333=)
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
NM_207122.2(EXT2):c.1306-7C>G
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786
NM_207122.2(EXT2):c.1495+7dup
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534
NM_207122.2(EXT2):c.1704T>A (p.Gly568=)
NM_207122.2(EXT2):c.1743G>A (p.Lys581=)
NM_207122.2(EXT2):c.1764T>C (p.Asn588=)
NM_207122.2(EXT2):c.182G>A (p.Arg61His)
NM_207122.2(EXT2):c.2013G>A (p.Val671=) rs371019537
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) rs746317053
NM_207122.2(EXT2):c.2136C>T (p.Phe712=)
NM_207122.2(EXT2):c.246T>C (p.Asp82=)
NM_207122.2(EXT2):c.267G>A (p.Thr89=)
NM_207122.2(EXT2):c.306C>T (p.Asn102=)
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371
NM_207122.2(EXT2):c.423C>T (p.Asp141=) rs199916419
NM_207122.2(EXT2):c.444C>T (p.Asn148=)
NM_207122.2(EXT2):c.687C>T (p.Ser229=)
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
NM_207122.2(EXT2):c.936A>G (p.Leu312=)
NM_207122.2(EXT2):c.93C>T (p.Ser31=)

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