ClinVar Miner

List of variants studied for Pitt-Hopkins syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 577
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HGVS dbSNP gnomAD frequency
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00182
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001083962.2(TCF4):c.1351-19G>A rs200963418 0.00162
NM_001083962.2(TCF4):c.305-14G>A rs187703131 0.00084
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936 0.00067
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) rs202025804 0.00051
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) rs139876825 0.00043
NM_001083962.2(TCF4):c.936C>T (p.Ser312=) rs368270265 0.00043
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00036
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298 0.00034
NM_001083962.2(TCF4):c.414C>G (p.Thr138=) rs201061418 0.00017
NM_001083962.2(TCF4):c.1487-5G>A rs749176054 0.00016
NM_001083962.2(TCF4):c.207+13A>G rs200824801 0.00016
NM_001083962.2(TCF4):c.330A>C (p.Ser110=) rs780528611 0.00016
NM_001083962.2(TCF4):c.990+12T>C rs144346949 0.00016
NM_001083962.2(TCF4):c.208-8A>G rs184943897 0.00015
NM_001083962.2(TCF4):c.1545C>T (p.Ser515=) rs777418647 0.00012
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) rs140862252 0.00012
NM_001083962.2(TCF4):c.146-11C>G rs191464553 0.00011
NM_001083962.2(TCF4):c.790-19T>C rs373683231 0.00010
NM_001083962.2(TCF4):c.923-17G>T rs550597992 0.00010
NM_001083962.2(TCF4):c.1147-17C>A rs375777217 0.00009
NM_001083962.2(TCF4):c.807C>T (p.Ser269=) rs143896861 0.00008
NM_001083962.2(TCF4):c.1245T>C (p.His415=) rs148909575 0.00006
NM_001083962.2(TCF4):c.1281T>C (p.Asn427=) rs781653715 0.00006
NM_001083962.2(TCF4):c.1371T>C (p.Asp457=) rs762922637 0.00006
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=) rs144068462 0.00006
NM_001083962.2(TCF4):c.1866G>A (p.Glu622=) rs140078086 0.00006
NM_001083962.2(TCF4):c.207+16C>G rs372770124 0.00006
NM_001083962.2(TCF4):c.370-14T>C rs796053411 0.00006
NM_001083962.2(TCF4):c.412A>G (p.Thr138Ala) rs146412750 0.00005
NM_001083962.2(TCF4):c.816C>T (p.Asp272=) rs138403996 0.00005
NM_001083962.2(TCF4):c.991-6T>G rs201721676 0.00005
NM_001083962.2(TCF4):c.1157T>C (p.Ile386Thr) rs143594544 0.00004
NM_001083962.2(TCF4):c.1194T>C (p.His398=) rs200225114 0.00004
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val) rs186508321 0.00004
NM_001083962.2(TCF4):c.1487-6C>T rs902297435 0.00004
NM_001083962.2(TCF4):c.1880-13T>C rs552013989 0.00004
NM_001083962.2(TCF4):c.216A>C (p.Gly72=) rs373658921 0.00004
NM_001083962.2(TCF4):c.240G>A (p.Met80Ile) rs532294589 0.00004
NM_001083962.2(TCF4):c.594G>A (p.Ser198=) rs368553922 0.00004
NM_001083962.2(TCF4):c.660C>T (p.Gly220=) rs149861305 0.00004
NM_001083962.2(TCF4):c.945C>T (p.Ala315=) rs200115299 0.00004
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=) rs148308964 0.00003
NM_001083962.2(TCF4):c.1317C>T (p.Thr439=) rs200112082 0.00003
NM_001083962.2(TCF4):c.1486+19G>A rs917376159 0.00003
NM_001083962.2(TCF4):c.1486+4G>C rs201274415 0.00003
NM_001083962.2(TCF4):c.1524T>C (p.Ser508=) rs752370780 0.00003
NM_001083962.2(TCF4):c.1608C>T (p.Asp536=) rs370405835 0.00003
NM_001083962.2(TCF4):c.1659C>T (p.Asp553=) rs755688939 0.00003
NM_001083962.2(TCF4):c.1965C>T (p.Ala655=) rs147289056 0.00003
NM_001083962.2(TCF4):c.1995G>A (p.Ser665=) rs587781188 0.00003
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) rs200889338 0.00003
NM_001083962.2(TCF4):c.550-8C>A rs748083315 0.00003
NM_001083962.2(TCF4):c.655+11G>A rs755601446 0.00003
NM_001083962.2(TCF4):c.903C>T (p.Asn301=) rs781392344 0.00003
NM_001083962.2(TCF4):c.1154G>A (p.Arg385Gln) rs1420909531 0.00002
NM_001083962.2(TCF4):c.1218C>T (p.Gly406=) rs201481787 0.00002
NM_001083962.2(TCF4):c.1348A>G (p.Met450Val) rs1466719628 0.00002
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg) rs138570124 0.00002
NM_001083962.2(TCF4):c.145+7A>G rs1418905601 0.00002
NM_001083962.2(TCF4):c.1650-14C>T rs569480730 0.00002
NM_001083962.2(TCF4):c.186A>T (p.Gly62=) rs369630179 0.00002
NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn) rs773462232 0.00002
NM_001083962.2(TCF4):c.499+16G>A rs369712872 0.00002
NM_001083962.2(TCF4):c.789+17C>T rs769657188 0.00002
NM_001083962.2(TCF4):c.836C>T (p.Pro279Leu) rs772975240 0.00002
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) rs750408686 0.00002
NM_001083962.2(TCF4):c.923-11T>C rs755956653 0.00002
NM_001083962.2(TCF4):c.1032C>T (p.Asn344=) rs372738049 0.00001
NM_001083962.2(TCF4):c.1036T>G (p.Ser346Ala) rs2057694590 0.00001
NM_001083962.2(TCF4):c.1070-5A>G rs1416559433 0.00001
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp) rs1016959427 0.00001
NM_001083962.2(TCF4):c.1185T>C (p.Asp395=) rs1341306301 0.00001
NM_001083962.2(TCF4):c.1237G>C (p.Gly413Arg) rs768214584 0.00001
NM_001083962.2(TCF4):c.123A>G (p.Ala41=) rs1603624677 0.00001
NM_001083962.2(TCF4):c.1248G>A (p.Gly416=) rs1325223617 0.00001
NM_001083962.2(TCF4):c.1251C>T (p.Asp417=) rs769451884 0.00001
NM_001083962.2(TCF4):c.1289T>G (p.Met430Arg) rs1272053360 0.00001
NM_001083962.2(TCF4):c.1291G>T (p.Gly431Cys) rs752176058 0.00001
NM_001083962.2(TCF4):c.1318G>A (p.Gly440Ser) rs759754956 0.00001
NM_001083962.2(TCF4):c.1331C>T (p.Ala444Val) rs761498822 0.00001
NM_001083962.2(TCF4):c.1349T>C (p.Met450Thr) rs774283982 0.00001
NM_001083962.2(TCF4):c.1383G>A (p.Leu461=) rs1447151923 0.00001
NM_001083962.2(TCF4):c.1412A>G (p.Gln471Arg) rs1285770614 0.00001
NM_001083962.2(TCF4):c.1413G>C (p.Gln471His) rs905111725 0.00001
NM_001083962.2(TCF4):c.1418C>T (p.Pro473Leu) rs1214980882 0.00001
NM_001083962.2(TCF4):c.1448C>G (p.Thr483Ser) rs773663759 0.00001
NM_001083962.2(TCF4):c.146-20A>G rs758306015 0.00001
NM_001083962.2(TCF4):c.146-5C>T rs753423881 0.00001
NM_001083962.2(TCF4):c.1468C>T (p.Pro490Ser) rs375511149 0.00001
NM_001083962.2(TCF4):c.1486+6T>C rs547850991 0.00001
NM_001083962.2(TCF4):c.1587G>A (p.Ser529=) rs567457339 0.00001
NM_001083962.2(TCF4):c.1598A>G (p.Lys533Arg) rs1568329915 0.00001
NM_001083962.2(TCF4):c.1650-4A>G rs1278454881 0.00001
NM_001083962.2(TCF4):c.1650-6C>T rs1486935210 0.00001
NM_001083962.2(TCF4):c.1656T>C (p.Asn552=) rs1217138981 0.00001
NM_001083962.2(TCF4):c.1722T>C (p.Asn574=) rs997175561 0.00001
NM_001083962.2(TCF4):c.1951C>G (p.Pro651Ala) rs549600113 0.00001
NM_001083962.2(TCF4):c.1966G>A (p.Gly656Ser) rs1317504677 0.00001
NM_001083962.2(TCF4):c.1989C>T (p.Asp663=) rs752325141 0.00001
NM_001083962.2(TCF4):c.200C>T (p.Pro67Leu) rs763329139 0.00001
NM_001083962.2(TCF4):c.209A>G (p.Asn70Ser) rs200359873 0.00001
NM_001083962.2(TCF4):c.212A>G (p.Tyr71Cys) rs763349461 0.00001
NM_001083962.2(TCF4):c.246C>T (p.Ser82=) rs1329250167 0.00001
NM_001083962.2(TCF4):c.304+13T>C rs777450664 0.00001
NM_001083962.2(TCF4):c.305-15C>T rs771654348 0.00001
NM_001083962.2(TCF4):c.369+9G>C rs751625112 0.00001
NM_001083962.2(TCF4):c.36G>C (p.Thr12=) rs373774656 0.00001
NM_001083962.2(TCF4):c.420G>A (p.Ser140=) rs763742755 0.00001
NM_001083962.2(TCF4):c.423C>T (p.Pro141=) rs1489496337 0.00001
NM_001083962.2(TCF4):c.446A>G (p.Tyr149Cys) rs1603286090 0.00001
NM_001083962.2(TCF4):c.456T>C (p.Ser152=) rs984509986 0.00001
NM_001083962.2(TCF4):c.481C>T (p.Leu161Phe) rs755353080 0.00001
NM_001083962.2(TCF4):c.487A>G (p.Ser163Gly) rs1474917865 0.00001
NM_001083962.2(TCF4):c.500-18A>G rs751585776 0.00001
NM_001083962.2(TCF4):c.507G>A (p.Gln169=) rs764947898 0.00001
NM_001083962.2(TCF4):c.584A>G (p.Asn195Ser) rs148573556 0.00001
NM_001083962.2(TCF4):c.639C>T (p.Ser213=) rs771829952 0.00001
NM_001083962.2(TCF4):c.649A>T (p.Met217Leu) rs768573052 0.00001
NM_001083962.2(TCF4):c.655+4A>T rs748830832 0.00001
NM_001083962.2(TCF4):c.659G>A (p.Gly220Asp) rs1480547602 0.00001
NM_001083962.2(TCF4):c.671G>A (p.Ser224Asn) rs1322809915 0.00001
NM_001083962.2(TCF4):c.687C>A (p.Ser229=) rs200800656 0.00001
NM_001083962.2(TCF4):c.690C>T (p.Ser230=) rs780717189 0.00001
NM_001083962.2(TCF4):c.706C>G (p.Pro236Ala) rs139859596 0.00001
NM_001083962.2(TCF4):c.783A>G (p.Glu261=) rs1177824906 0.00001
NM_001083962.2(TCF4):c.789+18G>A rs541018682 0.00001
NM_001083962.2(TCF4):c.789+8A>G rs775461255 0.00001
NM_001083962.2(TCF4):c.790-4A>G rs765187021 0.00001
NM_001083962.2(TCF4):c.790-6C>A rs553688184 0.00001
NM_001083962.2(TCF4):c.797C>T (p.Pro266Leu) rs201776550 0.00001
NM_001083962.2(TCF4):c.851A>G (p.His284Arg) rs748555967 0.00001
NM_001083962.2(TCF4):c.858T>C (p.Ser286=) rs749844373 0.00001
NM_001083962.2(TCF4):c.865A>G (p.Asn289Asp) rs1182405539 0.00001
NM_001083962.2(TCF4):c.879C>T (p.Thr293=) rs780424841 0.00001
NM_001083962.2(TCF4):c.904G>A (p.Gly302Arg) rs1341198543 0.00001
NM_001083962.2(TCF4):c.922+15T>C rs550736172 0.00001
NM_001083962.2(TCF4):c.937G>A (p.Gly313Arg) rs767178395 0.00001
NM_001083962.2(TCF4):c.946G>A (p.Gly316Ser) rs993457884 0.00001
NM_001083962.2(TCF4):c.969T>G (p.Ala323=) rs775673029 0.00001
NM_001083962.2(TCF4):c.990+19T>C rs1406213131 0.00001
NC_000018.10:g.(?_55228205)_(55403734_?)dup
NC_000018.10:g.(?_55228205)_(55635917_?)del
NC_000018.10:g.(?_55234528)_(55234703_?)del
NC_000018.9:g.(?_52888562)_53256860del
NC_000018.9:g.(?_52895436)_(53303148_?)dup
NC_000018.9:g.(?_52895456)_(53254347_?)del
NC_000018.9:g.(?_52895456)_(53254347_?)dup
NC_000018.9:g.(?_52921708)_(53070769_?)del
NC_000018.9:g.(?_52921708)_(53254347_?)del
NC_000018.9:g.(?_52927160)_(53254347_?)del
NC_000018.9:g.(?_53017570)_(53070769_?)del
NC_000018.9:g.(?_53017570)_(53131388_?)del
NC_000018.9:g.(?_53017570)_(53254347_?)del
NC_000018.9:g.(?_53070665)_(53070769_?)del
NC_000018.9:g.(?_53128230)_(53131388_?)del
NM_001083962.2(TCF4):c.1011T>A (p.Thr337=) rs1600507966
NM_001083962.2(TCF4):c.1013A>G (p.Asn338Ser)
NM_001083962.2(TCF4):c.1023T>C (p.Phe341=) rs2145680767
NM_001083962.2(TCF4):c.1038A>T (p.Ser346=)
NM_001083962.2(TCF4):c.1050C>G (p.Gly350=) rs772434611
NM_001083962.2(TCF4):c.1057C>T (p.Pro353Ser) rs1284661237
NM_001083962.2(TCF4):c.1059A>T (p.Pro353=) rs1298461061
NM_001083962.2(TCF4):c.1062T>C (p.Ser354=)
NM_001083962.2(TCF4):c.1069+19C>T rs2145679069
NM_001083962.2(TCF4):c.1069+20A>G
NM_001083962.2(TCF4):c.1069+8A>T
NM_001083962.2(TCF4):c.107G>A (p.Gly36Glu) rs2097629411
NM_001083962.2(TCF4):c.1080T>C (p.Ala360=)
NM_001083962.2(TCF4):c.1089T>C (p.Ser363=) rs1600406773
NM_001083962.2(TCF4):c.1099G>A (p.Gly367Arg)
NM_001083962.2(TCF4):c.1105G>A (p.Ala369Thr)
NM_001083962.2(TCF4):c.1107C>G (p.Ala369=) rs1289141717
NM_001083962.2(TCF4):c.1107C>T (p.Ala369=)
NM_001083962.2(TCF4):c.1109C>T (p.Ser370Leu) rs1389107188
NM_001083962.2(TCF4):c.110C>T (p.Pro37Leu)
NM_001083962.2(TCF4):c.1110A>G (p.Ser370=) rs2145599617
NM_001083962.2(TCF4):c.1133C>G (p.Pro378Arg)
NM_001083962.2(TCF4):c.1134C>G (p.Pro378=)
NM_001083962.2(TCF4):c.1135_1138dup (p.His380fs) rs2145598769
NM_001083962.2(TCF4):c.1138C>T (p.His380Tyr)
NM_001083962.2(TCF4):c.1146+3A>G rs1568490874
NM_001083962.2(TCF4):c.1147-2A>G rs2145503668
NM_001083962.2(TCF4):c.1147-3C>G rs2056333687
NM_001083962.2(TCF4):c.1147-3C>T
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.1161A>G (p.Glu387=) rs1013941155
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) rs2145503179
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer) rs1555764839
NM_001083962.2(TCF4):c.1170A>G (p.Leu390=)
NM_001083962.2(TCF4):c.1171G>T (p.Glu391Ter) rs1555764797
NM_001083962.2(TCF4):c.1174A>C (p.Arg392=) rs1555764741
NM_001083962.2(TCF4):c.117T>C (p.Ser39=)
NM_001083962.2(TCF4):c.1180G>C (p.Asp394His) rs1198693569
NM_001083962.2(TCF4):c.118T>C (p.Leu40=)
NM_001083962.2(TCF4):c.1201C>T (p.Arg401Trp) rs1337772395
NM_001083962.2(TCF4):c.1203del (p.Asn402fs) rs2056315077
NM_001083962.2(TCF4):c.1206C>T (p.Asn402=)
NM_001083962.2(TCF4):c.1231A>G (p.Met411Val) rs2145501402
NM_001083962.2(TCF4):c.1234C>T (p.Pro412Ser)
NM_001083962.2(TCF4):c.1239_1246del (p.Gly416fs)
NM_001083962.2(TCF4):c.1263C>T (p.Ile421=)
NM_001083962.2(TCF4):c.1267G>C (p.Gly423Arg) rs1555764202
NM_001083962.2(TCF4):c.1288A>G (p.Met430Val)
NM_001083962.2(TCF4):c.1294G>C (p.Gly432Arg) rs2145499073
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.2(TCF4):c.129A>T (p.Gly43=)
NM_001083962.2(TCF4):c.1303T>A (p.Ser435Thr)
NM_001083962.2(TCF4):c.1328C>G (p.Ser443Ter) rs1600285757
NM_001083962.2(TCF4):c.1330G>C (p.Ala444Pro)
NM_001083962.2(TCF4):c.1337_1340del (p.Arg446fs)
NM_001083962.2(TCF4):c.1351-10G>A
NM_001083962.2(TCF4):c.1351-10G>T
NM_001083962.2(TCF4):c.1351G>A (p.Val451Met) rs2048852348
NM_001083962.2(TCF4):c.1351G>C (p.Val451Leu)
NM_001083962.2(TCF4):c.1356G>T (p.Gly452=)
NM_001083962.2(TCF4):c.1360C>T (p.His454Tyr)
NM_001083962.2(TCF4):c.1363C>T (p.Arg455Cys)
NM_001083962.2(TCF4):c.136A>G (p.Thr46Ala) rs2097629150
NM_001083962.2(TCF4):c.1370A>G (p.Asp457Gly)
NM_001083962.2(TCF4):c.1374C>T (p.Gly458=)
NM_001083962.2(TCF4):c.1406C>T (p.Pro469Leu) rs2144678172
NM_001083962.2(TCF4):c.1417C>G (p.Pro473Ala)
NM_001083962.2(TCF4):c.1417C>T (p.Pro473Ser) rs2048837169
NM_001083962.2(TCF4):c.1419G>A (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1419G>T (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1420G>C (p.Val474Leu)
NM_001083962.2(TCF4):c.1422del (p.Pro475fs)
NM_001083962.2(TCF4):c.1432C>G (p.Pro478Ala) rs2144677083
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter) rs727505396
NM_001083962.2(TCF4):c.145+18T>G
NM_001083962.2(TCF4):c.145+3A>G rs2147847929
NM_001083962.2(TCF4):c.145+6T>C rs2097628925
NM_001083962.2(TCF4):c.146-11C>T
NM_001083962.2(TCF4):c.146-13C>G rs747950582
NM_001083962.2(TCF4):c.146-13C>T
NM_001083962.2(TCF4):c.146-1G>A
NM_001083962.2(TCF4):c.146-3T>G rs1341051748
NM_001083962.2(TCF4):c.1460T>C (p.Leu487Pro)
NM_001083962.2(TCF4):c.1463A>G (p.Asn488Ser)
NM_001083962.2(TCF4):c.1469C>G (p.Pro490Arg) rs1555722023
NM_001083962.2(TCF4):c.146A>G (p.Asn49Ser) rs932137046
NM_001083962.2(TCF4):c.1476C>A (p.Asp492Glu)
NM_001083962.2(TCF4):c.1481_1482insAA (p.Tyr494Ter) rs2048818361
NM_001083962.2(TCF4):c.1486+14A>G
NM_001083962.2(TCF4):c.1486+15C>T rs2144674263
NM_001083962.2(TCF4):c.1486+1G>T rs2048816852
NM_001083962.2(TCF4):c.1487-14C>G rs2144598116
NM_001083962.2(TCF4):c.1487-14C>T
NM_001083962.2(TCF4):c.1487-7T>G rs2048227413
NM_001083962.2(TCF4):c.1487G>C (p.Gly496Ala) rs2144597295
NM_001083962.2(TCF4):c.148G>T (p.Val50Leu) rs755628496
NM_001083962.2(TCF4):c.1495C>T (p.Pro499Ser) rs1395053525
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=) rs781382144
NM_001083962.2(TCF4):c.1503A>G (p.Leu501=)
NM_001083962.2(TCF4):c.1504C>T (p.Gln502Ter) rs1555718410
NM_001083962.2(TCF4):c.1504del (p.Gln502fs) rs1555718426
NM_001083962.2(TCF4):c.1505dup (p.Gln504fs) rs2144596313
NM_001083962.2(TCF4):c.1508G>T (p.Gly503Val)
NM_001083962.2(TCF4):c.1524T>A (p.Ser508=)
NM_001083962.2(TCF4):c.1527del (p.Ser510fs) rs1568331766
NM_001083962.2(TCF4):c.1532C>G (p.Ser511Cys) rs1555718228
NM_001083962.2(TCF4):c.1552G>T (p.Glu518Ter) rs1555718063
NM_001083962.2(TCF4):c.1557del (p.Asp520fs) rs1555717982
NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter) rs796053418
NM_001083962.2(TCF4):c.1578G>A (p.Thr526=)
NM_001083962.2(TCF4):c.1578G>C (p.Thr526=)
NM_001083962.2(TCF4):c.1583C>A (p.Ser528Tyr)
NM_001083962.2(TCF4):c.1585del (p.Ser529fs)
NM_001083962.2(TCF4):c.1593C>T (p.Asp531=)
NM_001083962.2(TCF4):c.1594A>G (p.Lys532Glu) rs1555717654
NM_001083962.2(TCF4):c.1609G>A (p.Asp537Asn) rs2048187425
NM_001083962.2(TCF4):c.160A>T (p.Ser54Cys)
NM_001083962.2(TCF4):c.1617G>A (p.Lys539=) rs1488846085
NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly) rs1568329461
NM_001083962.2(TCF4):c.1621A>T (p.Ile541Phe)
NM_001083962.2(TCF4):c.1649+9A>G
NM_001083962.2(TCF4):c.1650-10T>G
NM_001083962.2(TCF4):c.1650-7C>G
NM_001083962.2(TCF4):c.1650-9G>T rs1568307111
NM_001083962.2(TCF4):c.1660G>A (p.Asp554Asn)
NM_001083962.2(TCF4):c.1665G>C (p.Glu555Asp)
NM_001083962.2(TCF4):c.1674A>C (p.Thr558=)
NM_001083962.2(TCF4):c.1677A>G (p.Pro559=) rs1555711103
NM_001083962.2(TCF4):c.1681del (p.Gln561fs) rs2047128609
NM_001083962.2(TCF4):c.1694G>A (p.Arg565His)
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp) rs2047119736
NM_001083962.2(TCF4):c.1725C>T (p.Ala575=) rs2144407282
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) rs1555710726
NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu) rs1057521070
NM_001083962.2(TCF4):c.1730A>G (p.Glu577Gly)
NM_001083962.2(TCF4):c.1731G>A (p.Glu577=) rs2144406756
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) rs2144406630
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) rs121909123
NM_001083962.2(TCF4):c.1734T>C (p.Arg578=)
NM_001083962.2(TCF4):c.1736T>C (p.Leu579Pro)
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.2(TCF4):c.1740G>C (p.Arg580=)
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys) rs2047109965
NM_001083962.2(TCF4):c.1756G>A (p.Glu586Lys)
NM_001083962.2(TCF4):c.1770G>T (p.Glu590Asp)
NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe) rs2047107163
NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro) rs2047106597
NM_001083962.2(TCF4):c.1777del (p.Arg593fs) rs2047103931
NM_001083962.2(TCF4):c.1778G>A (p.Arg593His) rs1041108937
NM_001083962.2(TCF4):c.1785G>A (p.Val595=)
NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg) rs2144897134
NM_001083962.2(TCF4):c.1802G>T (p.Ser601Ile)
NM_001083962.2(TCF4):c.1806C>G (p.Asp602Glu) rs763359401
NM_001083962.2(TCF4):c.180G>A (p.Gly60=)
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile) rs2144403104
NM_001083962.2(TCF4):c.182A>G (p.Asn61Ser) rs1555672050
NM_001083962.2(TCF4):c.1831C>A (p.Leu611Ile) rs1555710107
NM_001083962.2(TCF4):c.1833C>G (p.Leu611=)
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) rs1568303352
NM_001083962.2(TCF4):c.1842G>A (p.Ala614=)
NM_001083962.2(TCF4):c.1842G>C (p.Ala614=)
NM_001083962.2(TCF4):c.1848C>A (p.Ala616=)
NM_001083962.2(TCF4):c.1848C>T (p.Ala616=) rs759645955
NM_001083962.2(TCF4):c.1867C>T (p.Gln623Ter)
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001083962.2(TCF4):c.1879+10G>C rs986184777
NM_001083962.2(TCF4):c.1879+10G>T
NM_001083962.2(TCF4):c.1879+4A>G
NM_001083962.2(TCF4):c.1879G>C (p.Glu627Gln) rs1555709822
NM_001083962.2(TCF4):c.1880-17G>T rs763236165
NM_001083962.2(TCF4):c.1880-6C>T
NM_001083962.2(TCF4):c.1880-9C>A rs2144368800
NM_001083962.2(TCF4):c.1887T>C (p.Asn629=) rs1188688924
NM_001083962.2(TCF4):c.188del (p.Gly63fs) rs2144896799
NM_001083962.2(TCF4):c.1896G>C (p.Pro632=)
NM_001083962.2(TCF4):c.189A>G (p.Gly63=)
NM_001083962.2(TCF4):c.1905G>C (p.Ala635=) rs151150677
NM_001083962.2(TCF4):c.1944G>A (p.Glu648=)
NM_001083962.2(TCF4):c.1946C>T (p.Pro649Leu) rs2144365633
NM_001083962.2(TCF4):c.1951C>A (p.Pro651Thr)
NM_001083962.2(TCF4):c.1952C>A (p.Pro651His) rs148802110
NM_001083962.2(TCF4):c.1952dup (p.Leu652fs)
NM_001083962.2(TCF4):c.1969C>G (p.Pro657Ala) rs1220562859
NM_001083962.2(TCF4):c.196A>G (p.Ser66Gly)
NM_001083962.2(TCF4):c.1976C>T (p.Pro659Leu)
NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr) rs755332116
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) rs755332116
NM_001083962.2(TCF4):c.2004G>A (p.Met668Ile)
NM_001083962.2(TCF4):c.2015A>G (p.Ter672=)
NM_001083962.2(TCF4):c.201G>A (p.Pro67=) rs775657966
NM_001083962.2(TCF4):c.201G>T (p.Pro67=)
NM_001083962.2(TCF4):c.207+16C>A
NM_001083962.2(TCF4):c.207+8T>A
NM_001083962.2(TCF4):c.207G>A (p.Arg69=) rs759654604
NM_001083962.2(TCF4):c.208-13A>G
NM_001083962.2(TCF4):c.208-16G>T rs1162459174
NM_001083962.2(TCF4):c.215G>C (p.Gly72Ala)
NM_001083962.2(TCF4):c.21G>A (p.Met7Ile)
NM_001083962.2(TCF4):c.220G>A (p.Gly74Arg) rs2095860701
NM_001083962.2(TCF4):c.223A>G (p.Thr75Ala) rs567398278
NM_001083962.2(TCF4):c.224C>T (p.Thr75Ile) rs1603483692
NM_001083962.2(TCF4):c.235C>G (p.His79Asp) rs957698131
NM_001083962.2(TCF4):c.237C>T (p.His79=) rs1330271200
NM_001083962.2(TCF4):c.242C>A (p.Thr81Asn) rs760934731
NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser)
NM_001083962.2(TCF4):c.259T>C (p.Ser87Pro)
NM_001083962.2(TCF4):c.263A>G (p.His88Arg)
NM_001083962.2(TCF4):c.264T>A (p.His88Gln) rs2144778412
NM_001083962.2(TCF4):c.278C>T (p.Pro93Leu) rs1603483664
NM_001083962.2(TCF4):c.280C>T (p.Pro94Ser) rs779916094
NM_001083962.2(TCF4):c.290A>G (p.Asn97Ser) rs1568107383
NM_001083962.2(TCF4):c.291T>C (p.Asn97=)
NM_001083962.2(TCF4):c.299T>A (p.Ile100Lys)
NM_001083962.2(TCF4):c.304A>C (p.Ser102Arg) rs780638244
NM_001083962.2(TCF4):c.304A>T (p.Ser102Cys)
NM_001083962.2(TCF4):c.305-3C>G
NM_001083962.2(TCF4):c.305-4G>A
NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn) rs796053413
NM_001083962.2(TCF4):c.310A>G (p.Thr104Ala)
NM_001083962.2(TCF4):c.31G>C (p.Gly11Arg)
NM_001083962.2(TCF4):c.320G>C (p.Gly107Ala)
NM_001083962.2(TCF4):c.322T>A (p.Ser108Thr) rs112222111
NM_001083962.2(TCF4):c.327C>T (p.Tyr109=)
NM_001083962.2(TCF4):c.329C>T (p.Ser110Leu)
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) rs1556050492
NM_001083962.2(TCF4):c.343G>C (p.Glu115Gln) rs867124521
NM_001083962.2(TCF4):c.345A>G (p.Glu115=)
NM_001083962.2(TCF4):c.347C>T (p.Ser116Leu)
NM_001083962.2(TCF4):c.350A>C (p.Asn117Thr) rs2093935698
NM_001083962.2(TCF4):c.358G>T (p.Gly120Cys) rs1603448353
NM_001083962.2(TCF4):c.359G>A (p.Gly120Asp)
NM_001083962.2(TCF4):c.361T>G (p.Cys121Gly) rs2146490420
NM_001083962.2(TCF4):c.369+11A>G rs2146489892
NM_001083962.2(TCF4):c.369+12T>G rs777983584
NM_001083962.2(TCF4):c.369+17G>A
NM_001083962.2(TCF4):c.369+17G>C
NM_001083962.2(TCF4):c.369+4A>G
NM_001083962.2(TCF4):c.369+6_369+7del rs773484932
NM_001083962.2(TCF4):c.370-17C>T
NM_001083962.2(TCF4):c.370-18C>A
NM_001083962.2(TCF4):c.370-3T>C
NM_001083962.2(TCF4):c.370-5T>A rs2082203332
NM_001083962.2(TCF4):c.370-8C>T rs2082203924
NM_001083962.2(TCF4):c.374G>A (p.Ser125Asn)
NM_001083962.2(TCF4):c.386G>A (p.Gly129Asp)
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser) rs796053416
NM_001083962.2(TCF4):c.414C>A (p.Thr138=)
NM_001083962.2(TCF4):c.414C>T (p.Thr138=)
NM_001083962.2(TCF4):c.41A>T (p.Lys14Ile) rs1603624809
NM_001083962.2(TCF4):c.41_62del (p.Lys14fs)
NM_001083962.2(TCF4):c.432T>G (p.Pro144=) rs2144786466
NM_001083962.2(TCF4):c.441G>C (p.Gln147His) rs2082192813
NM_001083962.2(TCF4):c.452A>C (p.Tyr151Ser)
NM_001083962.2(TCF4):c.465T>C (p.Asn155=) rs1603286017
NM_001083962.2(TCF4):c.466C>T (p.Pro156Ser)
NM_001083962.2(TCF4):c.470G>A (p.Arg157Gln) rs1438864984
NM_001083962.2(TCF4):c.471A>G (p.Arg157=)
NM_001083962.2(TCF4):c.476G>A (p.Arg159Lys) rs2144785394
NM_001083962.2(TCF4):c.478C>G (p.Pro160Ala)
NM_001083962.2(TCF4):c.496A>G (p.Met166Val)
NM_001083962.2(TCF4):c.499+15T>G
NM_001083962.2(TCF4):c.499+18T>C
NM_001083962.2(TCF4):c.499+5_499+6dup
NM_001083962.2(TCF4):c.499+8A>G rs2144784629
NM_001083962.2(TCF4):c.500-11T>A
NM_001083962.2(TCF4):c.500-12A>G
NM_001083962.2(TCF4):c.500-13C>T
NM_001083962.2(TCF4):c.500-16C>G
NM_001083962.2(TCF4):c.500-4T>A rs2144767675
NM_001083962.2(TCF4):c.508A>G (p.Thr170Ala) rs796053417
NM_001083962.2(TCF4):c.509C>T (p.Thr170Ile)
NM_001083962.2(TCF4):c.513G>C (p.Lys171Asn) rs2082088013
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) rs398123561
NM_001083962.2(TCF4):c.520C>A (p.Arg174=) rs878853149
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) rs878853149
NM_001083962.2(TCF4):c.529C>T (p.Pro177Ser) rs2144766710
NM_001083962.2(TCF4):c.543A>C (p.Pro181=)
NM_001083962.2(TCF4):c.549+18C>G rs2082079229
NM_001083962.2(TCF4):c.549+1_549+2dup rs2082082408
NM_001083962.2(TCF4):c.550-12_550-2del rs2146265987
NM_001083962.2(TCF4):c.550-15G>T
NM_001083962.2(TCF4):c.550-1G>A rs1601260508
NM_001083962.2(TCF4):c.550-20A>T
NM_001083962.2(TCF4):c.550-20_550-17del
NM_001083962.2(TCF4):c.550-20dup
NM_001083962.2(TCF4):c.550-6C>T
NM_001083962.2(TCF4):c.552C>G (p.Val184=)
NM_001083962.2(TCF4):c.554A>G (p.Tyr185Cys) rs1416409753
NM_001083962.2(TCF4):c.555T>A (p.Tyr185Ter)
NM_001083962.2(TCF4):c.571A>G (p.Thr191Ala) rs753332007
NM_001083962.2(TCF4):c.576C>A (p.Ala192=) rs143993583
NM_001083962.2(TCF4):c.576C>T (p.Ala192=) rs143993583
NM_001083962.2(TCF4):c.585T>C (p.Asn195=)
NM_001083962.2(TCF4):c.589G>A (p.Asp197Asn) rs762209412
NM_001083962.2(TCF4):c.5A>T (p.His2Leu) rs762916129
NM_001083962.2(TCF4):c.602_610dup (p.Tyr201_Ser203dup) rs1568652980
NM_001083962.2(TCF4):c.604C>A (p.Pro202Thr)
NM_001083962.2(TCF4):c.604C>T (p.Pro202Ser)
NM_001083962.2(TCF4):c.619G>T (p.Ala207Ser) rs1601257507
NM_001083962.2(TCF4):c.622A>G (p.Thr208Ala) rs1040642298
NM_001083962.2(TCF4):c.622_628dup (p.Thr210fs) rs2146264329
NM_001083962.2(TCF4):c.624C>G (p.Thr208=) rs370453680
NM_001083962.2(TCF4):c.624C>T (p.Thr208=)
NM_001083962.2(TCF4):c.633C>G (p.Phe211Leu)
NM_001083962.2(TCF4):c.634C>T (p.Pro212Ser)
NM_001083962.2(TCF4):c.643T>G (p.Phe215Val) rs1170209002
NM_001083962.2(TCF4):c.649A>C (p.Met217Leu) rs768573052
NM_001083962.2(TCF4):c.649A>G (p.Met217Val)
NM_001083962.2(TCF4):c.650T>C (p.Met217Thr) rs2146263735
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter) rs1064796853
NM_001083962.2(TCF4):c.655+16T>C
NM_001083962.2(TCF4):c.655+1G>A rs587784465
NM_001083962.2(TCF4):c.655+20G>A
NM_001083962.2(TCF4):c.655+9C>T rs2146263379
NM_001083962.2(TCF4):c.656-5T>C rs2061396253
NM_001083962.2(TCF4):c.666C>T (p.His222=)
NM_001083962.2(TCF4):c.670del (p.Ser224fs) rs2146148271
NM_001083962.2(TCF4):c.684C>T (p.Ser228=)
NM_001083962.2(TCF4):c.691A>G (p.Ser231Gly) rs2061384063
NM_001083962.2(TCF4):c.695G>A (p.Gly232Glu) rs2061383201
NM_001083962.2(TCF4):c.696G>A (p.Gly232=) rs2146147297
NM_001083962.2(TCF4):c.698T>C (p.Met233Thr) rs1391010086
NM_001083962.2(TCF4):c.699G>A (p.Met233Ile)
NM_001083962.2(TCF4):c.701A>G (p.Asn234Ser) rs2146147095
NM_001083962.2(TCF4):c.708T>C (p.Pro236=)
NM_001083962.2(TCF4):c.708T>G (p.Pro236=) rs2146146695
NM_001083962.2(TCF4):c.710G>A (p.Gly237Asp)
NM_001083962.2(TCF4):c.712T>C (p.Tyr238His) rs2146146536
NM_001083962.2(TCF4):c.715G>A (p.Ala239Thr)
NM_001083962.2(TCF4):c.717del (p.Gly240fs) rs2061376825
NM_001083962.2(TCF4):c.719G>C (p.Gly240Ala) rs758812309
NM_001083962.2(TCF4):c.72+12C>A
NM_001083962.2(TCF4):c.72+17G>T
NM_001083962.2(TCF4):c.72+8A>C
NM_001083962.2(TCF4):c.72+8_72+11del rs749161770
NM_001083962.2(TCF4):c.721A>T (p.Met241Leu) rs2061374229
NM_001083962.2(TCF4):c.723G>A (p.Met241Ile)
NM_001083962.2(TCF4):c.726G>A (p.Leu242=) rs765833827
NM_001083962.2(TCF4):c.73-11G>T rs2097629844
NM_001083962.2(TCF4):c.73-12T>G rs2147848648
NM_001083962.2(TCF4):c.73-16T>G
NM_001083962.2(TCF4):c.73-20T>C
NM_001083962.2(TCF4):c.73-21_73-19del rs767011774
NM_001083962.2(TCF4):c.738T>C (p.Ser246=) rs1555796836
NM_001083962.2(TCF4):c.73A>G (p.Met25Val) rs2097629744
NM_001083962.2(TCF4):c.73A>T (p.Met25Leu)
NM_001083962.2(TCF4):c.740dup (p.His247fs) rs1568620774
NM_001083962.2(TCF4):c.742_743del (p.Ile248fs) rs1568620706
NM_001083962.2(TCF4):c.747A>G (p.Pro249=)
NM_001083962.2(TCF4):c.753C>T (p.Ser251=) rs760906445
NM_001083962.2(TCF4):c.760T>C (p.Tyr254His) rs1601098241
NM_001083962.2(TCF4):c.762del (p.Cys255fs) rs2061366129
NM_001083962.2(TCF4):c.770dup (p.His258fs) rs2146144310
NM_001083962.2(TCF4):c.776C>T (p.Pro259Leu)
NM_001083962.2(TCF4):c.781G>C (p.Glu261Gln)
NM_001083962.2(TCF4):c.789+15C>T
NM_001083962.2(TCF4):c.789+7C>T rs762736069
NM_001083962.2(TCF4):c.789+9G>C
NM_001083962.2(TCF4):c.789G>A (p.Leu263=)
NM_001083962.2(TCF4):c.790-17del rs2145958975
NM_001083962.2(TCF4):c.790-1G>A rs2145958521
NM_001083962.2(TCF4):c.790-6C>G rs553688184
NM_001083962.2(TCF4):c.790A>T (p.Ser264Cys)
NM_001083962.2(TCF4):c.798A>G (p.Pro266=)
NM_001083962.2(TCF4):c.802C>T (p.His268Tyr)
NM_001083962.2(TCF4):c.810A>G (p.Ser270=) rs2145957942
NM_001083962.2(TCF4):c.817A>G (p.Ile273Val)
NM_001083962.2(TCF4):c.81A>C (p.Ser27=)
NM_001083962.2(TCF4):c.823T>G (p.Ser275Ala) rs2059990078
NM_001083962.2(TCF4):c.837G>A (p.Pro279=) rs1304005322
NM_001083962.2(TCF4):c.839T>C (p.Met280Thr) rs1568580200
NM_001083962.2(TCF4):c.83C>T (p.Pro28Leu)
NM_001083962.2(TCF4):c.844A>G (p.Thr282Ala)
NM_001083962.2(TCF4):c.84T>C (p.Pro28=) rs199540114
NM_001083962.2(TCF4):c.84T>G (p.Pro28=)
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr) rs869312695
NM_001083962.2(TCF4):c.854G>A (p.Arg285His)
NM_001083962.2(TCF4):c.869A>G (p.His290Arg) rs2059981842
NM_001083962.2(TCF4):c.878C>A (p.Thr293Asn)
NM_001083962.2(TCF4):c.887del (p.Cys296fs) rs2145956310
NM_001083962.2(TCF4):c.890C>T (p.Thr297Met) rs756279357
NM_001083962.2(TCF4):c.8A>G (p.His3Arg) rs2097656766
NM_001083962.2(TCF4):c.900C>A (p.Ala300=) rs1405612686
NM_001083962.2(TCF4):c.902A>G (p.Asn301Ser) rs1555789091
NM_001083962.2(TCF4):c.922+12A>G
NM_001083962.2(TCF4):c.922+15del rs2145954618
NM_001083962.2(TCF4):c.922+20A>G
NM_001083962.2(TCF4):c.922+5G>A rs2059972276
NM_001083962.2(TCF4):c.923-1G>A
NM_001083962.2(TCF4):c.923-20T>A
NM_001083962.2(TCF4):c.923-2A>G rs1600578193
NM_001083962.2(TCF4):c.925A>G (p.Asn309Asp)
NM_001083962.2(TCF4):c.930A>G (p.Arg310=)
NM_001083962.2(TCF4):c.939G>A (p.Gly313=) rs1470608351
NM_001083962.2(TCF4):c.939_947del (p.Ala314_Gly316del)
NM_001083962.2(TCF4):c.93C>T (p.Ser31=)
NM_001083962.2(TCF4):c.941C>T (p.Ala314Val)
NM_001083962.2(TCF4):c.955C>A (p.Gln319Lys) rs2145729894
NM_001083962.2(TCF4):c.972G>A (p.Leu324=)
NM_001083962.2(TCF4):c.975G>A (p.Gly325=)
NM_001083962.2(TCF4):c.990+10T>G rs2145728874
NM_001083962.2(TCF4):c.990+12T>A rs144346949
NM_001083962.2(TCF4):c.990+16C>T
NM_001083962.2(TCF4):c.991-11A>T
NM_001083962.2(TCF4):c.991-18T>C
NM_001083962.2(TCF4):c.991-18del
NM_001083962.2(TCF4):c.991-18dup rs138389096
NM_001083962.2(TCF4):c.991-1del rs2145681074
NM_001083962.2(TCF4):c.991-8_991-4del rs766726309
NM_001083962.2(TCF4):c.995A>G (p.Tyr332Cys) rs1568510320
NM_001083962.2(TCF4):c.998C>T (p.Ser333Phe) rs2057699910
NM_001083962.2(TCF4):c.9C>G (p.His3Gln) rs1361892226

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