ClinVar Miner

List of variants in gene TBL1XR1 studied for Pierpont syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 326
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HGVS dbSNP gnomAD frequency
NM_024665.7(TBL1XR1):c.766+5A>G rs3749234 0.21092
NM_024665.7(TBL1XR1):c.1416+25C>G rs16827730 0.10956
NM_024665.7(TBL1XR1):c.59-13C>G rs78281312 0.03907
NM_024665.7(TBL1XR1):c.1416+14A>G rs144060569 0.01159
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=) rs61750379 0.00455
NM_024665.7(TBL1XR1):c.1123-14T>G rs117037344 0.00152
NM_024665.7(TBL1XR1):c.1251-8T>A rs148654942 0.00065
NM_024665.7(TBL1XR1):c.1251-13C>G rs764679582 0.00038
NM_024665.7(TBL1XR1):c.865-19C>T rs375720678 0.00034
NM_024665.7(TBL1XR1):c.343G>A (p.Ala115Thr) rs375411293 0.00022
NM_024665.7(TBL1XR1):c.138C>T (p.Pro46=) rs373988821 0.00014
NM_024665.7(TBL1XR1):c.204+20A>C rs377008567 0.00014
NM_024665.7(TBL1XR1):c.606C>T (p.Ser202=) rs561869177 0.00013
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=) rs201359736 0.00009
NM_024665.7(TBL1XR1):c.1185T>C (p.Tyr395=) rs769514144 0.00007
NM_024665.7(TBL1XR1):c.346G>T (p.Ala116Ser) rs372813783 0.00006
NM_024665.7(TBL1XR1):c.59-5T>C rs773473383 0.00006
NM_024665.7(TBL1XR1):c.792G>A (p.Gln264=) rs754559924 0.00006
NM_024665.7(TBL1XR1):c.882C>T (p.Asp294=) rs747230542 0.00006
NM_024665.7(TBL1XR1):c.1250+7C>T rs1451573835 0.00005
NM_024665.7(TBL1XR1):c.1424C>T (p.Ala475Val) rs753533374 0.00005
NM_024665.7(TBL1XR1):c.428-7G>A rs751979734 0.00005
NM_024665.7(TBL1XR1):c.843C>T (p.Ile281=) rs377292061 0.00005
NM_024665.7(TBL1XR1):c.427+6C>T rs574703637 0.00004
NM_024665.7(TBL1XR1):c.428-8C>T rs755172052 0.00004
NM_024665.7(TBL1XR1):c.767-10T>C rs374414651 0.00004
NM_024665.7(TBL1XR1):c.925+13T>C rs774246831 0.00004
NM_024665.7(TBL1XR1):c.1266T>C (p.Ser422=) rs373306105 0.00003
NM_024665.7(TBL1XR1):c.1413G>A (p.Thr471=) rs768492558 0.00003
NM_024665.7(TBL1XR1):c.171A>G (p.Leu57=) rs144606780 0.00003
NM_024665.7(TBL1XR1):c.58+18G>A rs532484549 0.00003
NM_024665.7(TBL1XR1):c.660A>G (p.Gln220=) rs746245898 0.00003
NM_024665.7(TBL1XR1):c.702+13A>G rs751169814 0.00003
NM_024665.7(TBL1XR1):c.714A>G (p.Thr238=) rs750132632 0.00003
NM_024665.7(TBL1XR1):c.798A>G (p.Lys266=) rs779782589 0.00003
NM_024665.7(TBL1XR1):c.925+20C>T rs959944490 0.00003
NM_024665.7(TBL1XR1):c.1251-15T>C rs768431229 0.00002
NM_024665.7(TBL1XR1):c.1365G>A (p.Arg455=) rs1407933921 0.00002
NM_024665.7(TBL1XR1):c.1416+4T>C rs760434778 0.00002
NM_024665.7(TBL1XR1):c.318A>G (p.Gln106=) rs369839013 0.00002
NM_024665.7(TBL1XR1):c.342C>T (p.Ala114=) rs780887368 0.00002
NM_024665.7(TBL1XR1):c.353C>T (p.Ala118Val) rs749382891 0.00002
NM_024665.7(TBL1XR1):c.356G>C (p.Ser119Thr) rs756214140 0.00002
NM_024665.7(TBL1XR1):c.366A>T (p.Gly122=) rs189284362 0.00002
NM_024665.7(TBL1XR1):c.561-12A>G rs1298509198 0.00002
NM_024665.7(TBL1XR1):c.767-7A>G rs1032321341 0.00002
NM_024665.7(TBL1XR1):c.865-18T>G rs564993517 0.00002
NM_024665.7(TBL1XR1):c.1152C>T (p.Val384=) rs770559682 0.00001
NM_024665.7(TBL1XR1):c.1172A>G (p.Asn391Ser) rs1714446805 0.00001
NM_024665.7(TBL1XR1):c.1220A>G (p.Asn407Ser) rs781011308 0.00001
NM_024665.7(TBL1XR1):c.1228A>C (p.Asn410His) rs954146086 0.00001
NM_024665.7(TBL1XR1):c.1235A>G (p.Asn412Ser) rs1553808729 0.00001
NM_024665.7(TBL1XR1):c.1246G>A (p.Ala416Thr) rs1576982573 0.00001
NM_024665.7(TBL1XR1):c.1251-10C>T rs779947196 0.00001
NM_024665.7(TBL1XR1):c.1392A>G (p.Lys464=) rs776138830 0.00001
NM_024665.7(TBL1XR1):c.1506A>G (p.Ala502=) rs1468675014 0.00001
NM_024665.7(TBL1XR1):c.150T>A (p.Ile50=) rs1025942647 0.00001
NM_024665.7(TBL1XR1):c.1527A>C (p.Val509=) rs768850049 0.00001
NM_024665.7(TBL1XR1):c.1545G>A (p.Ter515=) rs371553222 0.00001
NM_024665.7(TBL1XR1):c.159C>T (p.Ile53=) rs1331072894 0.00001
NM_024665.7(TBL1XR1):c.205-11T>C rs747992136 0.00001
NM_024665.7(TBL1XR1):c.297T>C (p.Tyr99=) rs1418550335 0.00001
NM_024665.7(TBL1XR1):c.341C>T (p.Ala114Val) rs747826896 0.00001
NM_024665.7(TBL1XR1):c.396T>C (p.Asn132=) rs930714302 0.00001
NM_024665.7(TBL1XR1):c.402G>A (p.Glu134=) rs1376215669 0.00001
NM_024665.7(TBL1XR1):c.441T>G (p.Asp147Glu) rs1197826368 0.00001
NM_024665.7(TBL1XR1):c.443T>C (p.Met148Thr) rs375312919 0.00001
NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile) rs1339329131 0.00001
NM_024665.7(TBL1XR1):c.447G>T (p.Met149Ile) rs1716927122 0.00001
NM_024665.7(TBL1XR1):c.560+7T>C rs1009061727 0.00001
NM_024665.7(TBL1XR1):c.594T>C (p.Leu198=) rs1021701037 0.00001
NM_024665.7(TBL1XR1):c.657G>A (p.Gly219=) rs772368300 0.00001
NM_024665.7(TBL1XR1):c.783C>T (p.Thr261=) rs781650987 0.00001
NM_024665.7(TBL1XR1):c.915T>A (p.Pro305=) rs1399203622 0.00001
NM_024665.7(TBL1XR1):c.98A>G (p.His33Arg) rs919621560 0.00001
GRCh37/hg19 3q26.32(chr3:176755939-176756243)x1
NC_000003.11:g.(?_176743286)_(176782765_?)dup
NM_024665.7(TBL1XR1):c.1125A>G (p.Ile375Met) rs1714452457
NM_024665.7(TBL1XR1):c.1126T>C (p.Trp376Arg) rs1064795585
NM_024665.7(TBL1XR1):c.113A>G (p.Asn38Ser) rs1717436350
NM_024665.7(TBL1XR1):c.1143C>T (p.Asp381=) rs773941585
NM_024665.7(TBL1XR1):c.1145A>G (p.Asn382Ser) rs1282634331
NM_024665.7(TBL1XR1):c.1150G>T (p.Val384Phe)
NM_024665.7(TBL1XR1):c.1151T>C (p.Val384Ala) rs2108414521
NM_024665.7(TBL1XR1):c.1160T>C (p.Leu387Ser) rs2108414472
NM_024665.7(TBL1XR1):c.1161G>A (p.Leu387=)
NM_024665.7(TBL1XR1):c.1171A>G (p.Asn391Asp)
NM_024665.7(TBL1XR1):c.1173T>C (p.Asn391=)
NM_024665.7(TBL1XR1):c.117A>C (p.Ile39=) rs2108504046
NM_024665.7(TBL1XR1):c.1182T>G (p.Ile394Met) rs973409423
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys) rs1576982808
NM_024665.7(TBL1XR1):c.118_119insGTCAGTCCATTT (p.Asn40delinsSerGlnSerIleTyr) rs1717436007
NM_024665.7(TBL1XR1):c.1195T>A (p.Trp399Arg) rs2108414262
NM_024665.7(TBL1XR1):c.119A>G (p.Asn40Ser) rs2108504030
NM_024665.7(TBL1XR1):c.1217C>G (p.Thr406Ser) rs1020225336
NM_024665.7(TBL1XR1):c.1219A>G (p.Asn407Asp)
NM_024665.7(TBL1XR1):c.1225C>A (p.Pro409Thr)
NM_024665.7(TBL1XR1):c.1225C>G (p.Pro409Ala) rs1008313618
NM_024665.7(TBL1XR1):c.122G>A (p.Gly41Asp) rs1234470093
NM_024665.7(TBL1XR1):c.1240A>C (p.Met414Leu)
NM_024665.7(TBL1XR1):c.124G>A (p.Ala42Thr)
NM_024665.7(TBL1XR1):c.1250+13T>C
NM_024665.7(TBL1XR1):c.1250+17A>G
NM_024665.7(TBL1XR1):c.1250+6A>T
NM_024665.7(TBL1XR1):c.1251-10_1251-7del rs778600858
NM_024665.7(TBL1XR1):c.1251-11T>A rs2108408439
NM_024665.7(TBL1XR1):c.1251-19T>C
NM_024665.7(TBL1XR1):c.1251-9C>T
NM_024665.7(TBL1XR1):c.1257C>T (p.Ser419=) rs2108408341
NM_024665.7(TBL1XR1):c.126C>T (p.Ala42=) rs1553817646
NM_024665.7(TBL1XR1):c.1270G>A (p.Val424Ile) rs753008616
NM_024665.7(TBL1XR1):c.1290C>A (p.Asp430Glu)
NM_024665.7(TBL1XR1):c.129C>G (p.Leu43=) rs769063142
NM_024665.7(TBL1XR1):c.129C>T (p.Leu43=) rs769063142
NM_024665.7(TBL1XR1):c.1301G>A (p.Cys434Tyr) rs1372547105
NM_024665.7(TBL1XR1):c.1302C>T (p.Cys434=)
NM_024665.7(TBL1XR1):c.130G>A (p.Val44Ile) rs1553817638
NM_024665.7(TBL1XR1):c.1323_1325del (p.His441del) rs2108408054
NM_024665.7(TBL1XR1):c.1333G>A (p.Val445Met)
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His) rs1553808301
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys) rs878854402
NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn) rs2108407962
NM_024665.7(TBL1XR1):c.1342G>A (p.Val448Ile) rs1714230654
NM_024665.7(TBL1XR1):c.1344A>G (p.Val448=)
NM_024665.7(TBL1XR1):c.1346C>T (p.Ala449Val)
NM_024665.7(TBL1XR1):c.1364G>A (p.Arg455Lys)
NM_024665.7(TBL1XR1):c.1383T>C (p.Ser461=)
NM_024665.7(TBL1XR1):c.1385T>C (p.Phe462Ser)
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn) rs1560098548
NM_024665.7(TBL1XR1):c.138C>G (p.Pro46=)
NM_024665.7(TBL1XR1):c.139G>A (p.Ala47Thr) rs1253058954
NM_024665.7(TBL1XR1):c.1416+20A>G
NM_024665.7(TBL1XR1):c.1417-10A>G
NM_024665.7(TBL1XR1):c.1417-12dup rs753561692
NM_024665.7(TBL1XR1):c.1417-16_1417-15dup rs753561692
NM_024665.7(TBL1XR1):c.1417-19T>C rs2108378479
NM_024665.7(TBL1XR1):c.1417-7C>G rs761210577
NM_024665.7(TBL1XR1):c.1417A>G (p.Thr473Ala)
NM_024665.7(TBL1XR1):c.1418C>T (p.Thr473Ile) rs1560091765
NM_024665.7(TBL1XR1):c.1425T>C (p.Ala475=)
NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=) rs544818049
NM_024665.7(TBL1XR1):c.1449A>G (p.Thr483=)
NM_024665.7(TBL1XR1):c.145T>C (p.Leu49=)
NM_024665.7(TBL1XR1):c.1488C>T (p.Asp496=)
NM_024665.7(TBL1XR1):c.1512T>C (p.Asp504=)
NM_024665.7(TBL1XR1):c.1518+18T>A
NM_024665.7(TBL1XR1):c.1518+20T>C
NM_024665.7(TBL1XR1):c.1518+3A>G
NM_024665.7(TBL1XR1):c.1518+8_1518+12del
NM_024665.7(TBL1XR1):c.1518A>C (p.Ser506=)
NM_024665.7(TBL1XR1):c.1519-17A>G
NM_024665.7(TBL1XR1):c.1519-21_1519-18del rs777937343
NM_024665.7(TBL1XR1):c.1523G>A (p.Cys508Tyr) rs2108374207
NM_024665.7(TBL1XR1):c.1527A>T (p.Val509=)
NM_024665.7(TBL1XR1):c.1537C>T (p.Arg513Trp)
NM_024665.7(TBL1XR1):c.1539G>C (p.Arg513=) rs2108374139
NM_024665.7(TBL1XR1):c.1542A>G (p.Lys514=)
NM_024665.7(TBL1XR1):c.156C>T (p.Ile52=)
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs) rs2108503904
NM_024665.7(TBL1XR1):c.17A>G (p.Asp6Gly) rs1577062828
NM_024665.7(TBL1XR1):c.180A>G (p.Val60=) rs749015447
NM_024665.7(TBL1XR1):c.186A>G (p.Ala62=)
NM_024665.7(TBL1XR1):c.197T>G (p.Ile66Ser) rs1717428641
NM_024665.7(TBL1XR1):c.198T>A (p.Ile66=)
NM_024665.7(TBL1XR1):c.204+10A>G
NM_024665.7(TBL1XR1):c.204+15T>C
NM_024665.7(TBL1XR1):c.204+20A>G rs377008567
NM_024665.7(TBL1XR1):c.204+8A>G
NM_024665.7(TBL1XR1):c.204+9G>A rs1180832176
NM_024665.7(TBL1XR1):c.204_204+2dup
NM_024665.7(TBL1XR1):c.205-13T>A
NM_024665.7(TBL1XR1):c.205-15A>G
NM_024665.7(TBL1XR1):c.205-3C>T rs1320026361
NM_024665.7(TBL1XR1):c.205-7A>G rs1717116134
NM_024665.7(TBL1XR1):c.205-9C>T
NM_024665.7(TBL1XR1):c.205G>T (p.Asp69Tyr) rs2108497431
NM_024665.7(TBL1XR1):c.208G>T (p.Gly70Cys)
NM_024665.7(TBL1XR1):c.216G>A (p.Leu72=) rs2108497392
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_024665.7(TBL1XR1):c.232A>G (p.Ile78Val) rs935282343
NM_024665.7(TBL1XR1):c.241C>G (p.Leu81Val)
NM_024665.7(TBL1XR1):c.249G>C (p.Leu83=)
NM_024665.7(TBL1XR1):c.257_271del (p.Ala86_Asp90del)
NM_024665.7(TBL1XR1):c.258C>T (p.Ala86=)
NM_024665.7(TBL1XR1):c.259G>A (p.Val87Ile) rs751513385
NM_024665.7(TBL1XR1):c.273A>G (p.Val91=) rs1577029566
NM_024665.7(TBL1XR1):c.277C>G (p.Gln93Glu)
NM_024665.7(TBL1XR1):c.283A>G (p.Arg95Gly) rs2108497148
NM_024665.7(TBL1XR1):c.28T>C (p.Phe10Leu) rs1718967303
NM_024665.7(TBL1XR1):c.303T>G (p.Asp101Glu) rs764319248
NM_024665.7(TBL1XR1):c.307C>G (p.Leu103Val)
NM_024665.7(TBL1XR1):c.308T>C (p.Leu103Pro) rs2108497048
NM_024665.7(TBL1XR1):c.321_338dup (p.Ala118_Ser119insAlaAlaAlaAlaAlaAla)
NM_024665.7(TBL1XR1):c.323C>T (p.Ala108Val) rs1056676313
NM_024665.7(TBL1XR1):c.324_341dup (p.Ala113_Ala118dup) rs1553816164
NM_024665.7(TBL1XR1):c.327_353del (p.Ala110_Ala118del)
NM_024665.7(TBL1XR1):c.327_357dup (p.Gln120fs) rs1577029136
NM_024665.7(TBL1XR1):c.330T>C (p.Ala110=) rs774761056
NM_024665.7(TBL1XR1):c.333T>C (p.Ala111=)
NM_024665.7(TBL1XR1):c.333_350del (p.Ala113_Ala118del) rs1462665726
NM_024665.7(TBL1XR1):c.333_350dup (p.Ala113_Ala118dup) rs1462665726
NM_024665.7(TBL1XR1):c.342_350del (p.Ala116_Ala118del) rs746988856
NM_024665.7(TBL1XR1):c.342_350dup (p.Ala116_Ala118dup) rs746988856
NM_024665.7(TBL1XR1):c.350C>T (p.Ala117Val)
NM_024665.7(TBL1XR1):c.351A>T (p.Ala117=)
NM_024665.7(TBL1XR1):c.353C>A (p.Ala118Asp) rs749382891
NM_024665.7(TBL1XR1):c.354C>T (p.Ala118=)
NM_024665.7(TBL1XR1):c.355A>G (p.Ser119Gly)
NM_024665.7(TBL1XR1):c.356G>A (p.Ser119Asn) rs756214140
NM_024665.7(TBL1XR1):c.360A>G (p.Gln120=)
NM_024665.7(TBL1XR1):c.365G>A (p.Gly122Glu)
NM_024665.7(TBL1XR1):c.38A>G (p.Tyr13Cys) rs1405162373
NM_024665.7(TBL1XR1):c.390A>C (p.Thr130=) rs1335460465
NM_024665.7(TBL1XR1):c.395A>G (p.Asn132Ser)
NM_024665.7(TBL1XR1):c.399G>A (p.Gly133=) rs751925024
NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly) rs1718965342
NM_024665.7(TBL1XR1):c.413C>G (p.Ala138Gly) rs1717082998
NM_024665.7(TBL1XR1):c.417T>C (p.His139=)
NM_024665.7(TBL1XR1):c.41del (p.Arg14fs) rs2108539881
NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs)
NM_024665.7(TBL1XR1):c.427+15_427+17del
NM_024665.7(TBL1XR1):c.427+9A>T rs2108496137
NM_024665.7(TBL1XR1):c.428-19C>T
NM_024665.7(TBL1XR1):c.428-20A>G
NM_024665.7(TBL1XR1):c.428-20_428-17del
NM_024665.7(TBL1XR1):c.428-7G>T rs751979734
NM_024665.7(TBL1XR1):c.434A>T (p.His145Leu)
NM_024665.7(TBL1XR1):c.459G>A (p.Gly153=)
NM_024665.7(TBL1XR1):c.478A>C (p.Asn160His) rs2108492417
NM_024665.7(TBL1XR1):c.490G>C (p.Val164Leu) rs2108492388
NM_024665.7(TBL1XR1):c.513A>G (p.Glu171=)
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu) rs1716920045
NM_024665.7(TBL1XR1):c.519T>C (p.Phe173=) rs765740107
NM_024665.7(TBL1XR1):c.521T>A (p.Ile174Asn) rs1716918794
NM_024665.7(TBL1XR1):c.526G>T (p.Ala176Ser)
NM_024665.7(TBL1XR1):c.533A>G (p.Asn178Ser)
NM_024665.7(TBL1XR1):c.542G>A (p.Ser181Asn) rs1367919718
NM_024665.7(TBL1XR1):c.549C>G (p.Leu183=)
NM_024665.7(TBL1XR1):c.549C>T (p.Leu183=)
NM_024665.7(TBL1XR1):c.549_551del (p.Leu184del)
NM_024665.7(TBL1XR1):c.555A>G (p.Ala185=) rs1047926029
NM_024665.7(TBL1XR1):c.558A>G (p.Ser186=) rs760252840
NM_024665.7(TBL1XR1):c.559G>C (p.Gly187Arg) rs2108492204
NM_024665.7(TBL1XR1):c.560+15G>T
NM_024665.7(TBL1XR1):c.560+17G>C
NM_024665.7(TBL1XR1):c.560+19T>C
NM_024665.7(TBL1XR1):c.561-11T>C
NM_024665.7(TBL1XR1):c.561-12A>C rs1298509198
NM_024665.7(TBL1XR1):c.561-13C>T
NM_024665.7(TBL1XR1):c.561-13del rs2108490955
NM_024665.7(TBL1XR1):c.561-15T>C rs201736942
NM_024665.7(TBL1XR1):c.561-5dup
NM_024665.7(TBL1XR1):c.58+14dup
NM_024665.7(TBL1XR1):c.58+8C>T rs2108539820
NM_024665.7(TBL1XR1):c.585A>C (p.Ile195=)
NM_024665.7(TBL1XR1):c.59-13_59-9del rs759688772
NM_024665.7(TBL1XR1):c.59-15_59-14del rs775386912
NM_024665.7(TBL1XR1):c.59-22_59-19del
NM_024665.7(TBL1XR1):c.59-3T>C rs2108504149
NM_024665.7(TBL1XR1):c.59-3dup
NM_024665.7(TBL1XR1):c.59-5T>G
NM_024665.7(TBL1XR1):c.59-8G>T
NM_024665.7(TBL1XR1):c.59-8_59-7insGT
NM_024665.7(TBL1XR1):c.595A>C (p.Ser199Arg)
NM_024665.7(TBL1XR1):c.604A>C (p.Ser202Arg) rs2108490815
NM_024665.7(TBL1XR1):c.619A>G (p.Thr207Ala)
NM_024665.7(TBL1XR1):c.621A>G (p.Thr207=)
NM_024665.7(TBL1XR1):c.626_629del (p.Leu209fs) rs1716848997
NM_024665.7(TBL1XR1):c.629T>G (p.Val210Gly)
NM_024665.7(TBL1XR1):c.64dup (p.Ser22fs)
NM_024665.7(TBL1XR1):c.665T>A (p.Val222Asp)
NM_024665.7(TBL1XR1):c.671G>T (p.Ser224Ile)
NM_024665.7(TBL1XR1):c.678G>C (p.Lys226Asn)
NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn) rs2108490656
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe) rs1553815393
NM_024665.7(TBL1XR1):c.693A>G (p.Leu231=) rs2108490620
NM_024665.7(TBL1XR1):c.699_700delinsTT (p.Trp233_Asn234delinsCysTyr)
NM_024665.7(TBL1XR1):c.6T>C (p.Ser2=) rs2108539980
NM_024665.7(TBL1XR1):c.700A>G (p.Asn234Asp) rs752153431
NM_024665.7(TBL1XR1):c.702+12T>C rs2108490586
NM_024665.7(TBL1XR1):c.702+17C>T
NM_024665.7(TBL1XR1):c.703-10del
NM_024665.7(TBL1XR1):c.703-2A>G rs1577018466
NM_024665.7(TBL1XR1):c.703-4G>A
NM_024665.7(TBL1XR1):c.703A>G (p.Ser235Gly)
NM_024665.7(TBL1XR1):c.704G>A (p.Ser235Asn)
NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp) rs1716484744
NM_024665.7(TBL1XR1):c.712A>C (p.Thr238Pro) rs1716484332
NM_024665.7(TBL1XR1):c.712A>G (p.Thr238Ala)
NM_024665.7(TBL1XR1):c.714A>C (p.Thr238=)
NM_024665.7(TBL1XR1):c.714A>T (p.Thr238=) rs750132632
NM_024665.7(TBL1XR1):c.718C>T (p.Leu240=)
NM_024665.7(TBL1XR1):c.724A>G (p.Thr242Ala)
NM_024665.7(TBL1XR1):c.732C>T (p.Ser244=)
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys) rs878854401
NM_024665.7(TBL1XR1):c.75A>G (p.Ala25=)
NM_024665.7(TBL1XR1):c.766+13T>C
NM_024665.7(TBL1XR1):c.766+17C>T
NM_024665.7(TBL1XR1):c.766+7G>A
NM_024665.7(TBL1XR1):c.766+9A>G
NM_024665.7(TBL1XR1):c.767-23_767-18del
NM_024665.7(TBL1XR1):c.767-9G>A
NM_024665.7(TBL1XR1):c.776_780dup (p.Thr261fs)
NM_024665.7(TBL1XR1):c.780C>T (p.Ser260=)
NM_024665.7(TBL1XR1):c.787G>A (p.Gly263Arg) rs2108479602
NM_024665.7(TBL1XR1):c.813A>G (p.Ala271=) rs369700699
NM_024665.7(TBL1XR1):c.818A>G (p.Lys273Arg)
NM_024665.7(TBL1XR1):c.819A>G (p.Lys273=) rs1036763376
NM_024665.7(TBL1XR1):c.827A>G (p.Lys276Arg)
NM_024665.7(TBL1XR1):c.830_831del (p.Lys277fs)
NM_024665.7(TBL1XR1):c.840C>T (p.Phe280=) rs1716458483
NM_024665.7(TBL1XR1):c.846A>G (p.Leu282=)
NM_024665.7(TBL1XR1):c.84T>C (p.Phe28=) rs1049402673
NM_024665.7(TBL1XR1):c.864+1G>A
NM_024665.7(TBL1XR1):c.864+7del
NM_024665.7(TBL1XR1):c.865-13_865-8del rs774465473
NM_024665.7(TBL1XR1):c.865-14C>T
NM_024665.7(TBL1XR1):c.865-20del rs1376809747
NM_024665.7(TBL1XR1):c.865-5C>G rs1221661271
NM_024665.7(TBL1XR1):c.865-6T>A
NM_024665.7(TBL1XR1):c.887A>G (p.His296Arg)
NM_024665.7(TBL1XR1):c.906A>G (p.Gln302=)
NM_024665.7(TBL1XR1):c.925+12A>T
NM_024665.7(TBL1XR1):c.925+3A>G
NM_024665.7(TBL1XR1):c.925+7T>C rs1716296692

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