ClinVar Miner

List of variants reported as likely benign for Gorlin syndrome; Medulloblastoma

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 451
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr) rs34406289 0.00078
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys) rs36049457 0.00039
NM_016169.4(SUFU):c.198C>T (p.Asp66=) rs189500468 0.00031
NM_016169.4(SUFU):c.318-17C>A rs201198734 0.00029
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 0.00023
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu) rs765358771 0.00020
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser) rs143807689 0.00017
NM_016169.4(SUFU):c.255C>T (p.Pro85=) rs113671745 0.00016
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_016169.4(SUFU):c.1297-13T>C rs557592503 0.00012
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly) rs368178771 0.00009
NM_016169.4(SUFU):c.1272C>T (p.Tyr424=) rs771084342 0.00009
NM_016169.4(SUFU):c.183-20_183-19del rs763795960 0.00009
NM_016169.4(SUFU):c.879C>T (p.Ile293=) rs370516021 0.00009
NM_016169.4(SUFU):c.1028G>A (p.Arg343His) rs79299301 0.00008
NM_016169.4(SUFU):c.1023-20T>C rs373445321 0.00007
NM_016169.4(SUFU):c.1113G>A (p.Leu371=) rs745349651 0.00006
NM_016169.4(SUFU):c.757-20C>T rs370544916 0.00006
NM_016169.4(SUFU):c.911-7G>A rs558661774 0.00006
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp) rs148160011 0.00006
NM_016169.4(SUFU):c.1059G>A (p.Thr353=) rs780683814 0.00005
NM_016169.4(SUFU):c.1297-16C>T rs763761235 0.00004
NM_016169.4(SUFU):c.183-17T>C rs767300975 0.00004
NM_016169.4(SUFU):c.537G>A (p.Leu179=) rs139580429 0.00004
NM_016169.4(SUFU):c.777C>T (p.Ile259=) rs749533220 0.00004
NM_016169.4(SUFU):c.855C>T (p.Asp285=) rs200206997 0.00004
NM_016169.4(SUFU):c.1157+3G>A rs764861812 0.00003
NM_016169.4(SUFU):c.126C>G (p.Arg42=) rs779935477 0.00003
NM_016169.4(SUFU):c.1366-8C>T rs1212706214 0.00003
NM_016169.4(SUFU):c.1428C>T (p.Asp476=) rs777069460 0.00003
NM_016169.4(SUFU):c.1446G>A (p.Pro482=) rs761389038 0.00003
NM_016169.4(SUFU):c.411C>T (p.Pro137=) rs946508687 0.00003
NM_016169.4(SUFU):c.474G>A (p.Gly158=) rs375178556 0.00003
NM_016169.4(SUFU):c.543G>A (p.Glu181=) rs1211026296 0.00003
NM_016169.4(SUFU):c.666G>T (p.Leu222=) rs142383792 0.00003
NM_016169.4(SUFU):c.873C>T (p.Ile291=) rs763453891 0.00003
NM_016169.4(SUFU):c.96G>C (p.Pro32=) rs1483435746 0.00003
NM_016169.4(SUFU):c.1008C>T (p.Ala336=) rs770049693 0.00002
NM_016169.4(SUFU):c.1157+7G>A rs371548374 0.00002
NM_016169.4(SUFU):c.1221G>A (p.Thr407=) rs555064651 0.00002
NM_016169.4(SUFU):c.1300C>T (p.Leu434=) rs369670140 0.00002
NM_016169.4(SUFU):c.1437C>T (p.Phe479=) rs768454343 0.00002
NM_016169.4(SUFU):c.405A>G (p.Thr135=) rs760827494 0.00002
NM_016169.4(SUFU):c.441C>T (p.Tyr147=) rs201489422 0.00002
NM_016169.4(SUFU):c.455-18C>T rs760955559 0.00002
NM_016169.4(SUFU):c.597+6G>A rs1038799345 0.00002
NM_016169.4(SUFU):c.678G>A (p.Val226=) rs201328407 0.00002
NM_016169.4(SUFU):c.683+8C>T rs369232884 0.00002
NM_016169.4(SUFU):c.684-14T>G rs2063433799 0.00002
NM_016169.4(SUFU):c.684-17C>G rs1454924481 0.00002
NM_016169.4(SUFU):c.715C>A (p.Arg239=) rs369465986 0.00002
NM_016169.4(SUFU):c.807C>T (p.Val269=) rs919110211 0.00002
NM_016169.4(SUFU):c.1005C>T (p.Leu335=) rs575246362 0.00001
NM_016169.4(SUFU):c.1011C>T (p.His337=) rs747747662 0.00001
NM_016169.4(SUFU):c.1022+12A>G rs2063496960 0.00001
NM_016169.4(SUFU):c.1022+14T>C rs758576759 0.00001
NM_016169.4(SUFU):c.1022+16T>C rs764272302 0.00001
NM_016169.4(SUFU):c.1023-16T>C rs762717407 0.00001
NM_016169.4(SUFU):c.1023-18C>A rs892399500 0.00001
NM_016169.4(SUFU):c.1089G>A (p.Thr363=) rs1438357532 0.00001
NM_016169.4(SUFU):c.1089G>T (p.Thr363=) rs1438357532 0.00001
NM_016169.4(SUFU):c.1104C>T (p.Ser368=) rs746580970 0.00001
NM_016169.4(SUFU):c.1131C>T (p.Ser377=) rs775396007 0.00001
NM_016169.4(SUFU):c.1146T>G (p.Pro382=) rs1159204850 0.00001
NM_016169.4(SUFU):c.1157+14C>A rs2063675828 0.00001
NM_016169.4(SUFU):c.1157+6C>T rs535323089 0.00001
NM_016169.4(SUFU):c.1158-8A>G rs749166919 0.00001
NM_016169.4(SUFU):c.1176A>G (p.Gly392=) rs771819487 0.00001
NM_016169.4(SUFU):c.1188A>C (p.Thr396=) rs1418070936 0.00001
NM_016169.4(SUFU):c.1191T>C (p.Tyr397=) rs895235845 0.00001
NM_016169.4(SUFU):c.1218C>A (p.Ile406=) rs1416629342 0.00001
NM_016169.4(SUFU):c.1227C>G (p.Val409=) rs753190647 0.00001
NM_016169.4(SUFU):c.123C>T (p.Cys41=) rs1412892420 0.00001
NM_016169.4(SUFU):c.1275G>A (p.Ala425=) rs771832461 0.00001
NM_016169.4(SUFU):c.1296+9G>T rs759664715 0.00001
NM_016169.4(SUFU):c.1317T>C (p.Phe439=) rs748603932 0.00001
NM_016169.4(SUFU):c.135C>T (p.Tyr45=) rs1342856960 0.00001
NM_016169.4(SUFU):c.1362G>A (p.Glu454=) rs771380823 0.00001
NM_016169.4(SUFU):c.1365+13G>C rs1370046167 0.00001
NM_016169.4(SUFU):c.1366-18T>C rs778922691 0.00001
NM_016169.4(SUFU):c.1366-4A>G rs201139426 0.00001
NM_016169.4(SUFU):c.1386C>T (p.Tyr462=) rs2063824214 0.00001
NM_016169.4(SUFU):c.1455G>A (p.Ter485=) rs773021913 0.00001
NM_016169.4(SUFU):c.182+11G>A rs766984305 0.00001
NM_016169.4(SUFU):c.182+8C>G rs751208244 0.00001
NM_016169.4(SUFU):c.252C>A (p.Ile84=) rs1437282528 0.00001
NM_016169.4(SUFU):c.267C>T (p.His89=) rs1236109627 0.00001
NM_016169.4(SUFU):c.279C>T (p.Phe93=) rs770218907 0.00001
NM_016169.4(SUFU):c.300T>A (p.Gly100=) rs775876798 0.00001
NM_016169.4(SUFU):c.30C>T (p.Pro10=) rs1315277679 0.00001
NM_016169.4(SUFU):c.317+15C>A rs760470575 0.00001
NM_016169.4(SUFU):c.318-11A>C rs1485269392 0.00001
NM_016169.4(SUFU):c.318-7C>G rs751778806 0.00001
NM_016169.4(SUFU):c.363C>A (p.Thr121=) rs910976342 0.00001
NM_016169.4(SUFU):c.444G>A (p.Val148=) rs757424197 0.00001
NM_016169.4(SUFU):c.454+11dup rs756465918 0.00001
NM_016169.4(SUFU):c.45C>T (p.Pro15=) rs767543227 0.00001
NM_016169.4(SUFU):c.477C>T (p.Asp159=) rs2063415176 0.00001
NM_016169.4(SUFU):c.480T>C (p.His160=) rs1308247295 0.00001
NM_016169.4(SUFU):c.561C>T (p.Pro187=) rs769503197 0.00001
NM_016169.4(SUFU):c.579G>A (p.Gly193=) rs1590061953 0.00001
NM_016169.4(SUFU):c.591C>T (p.Phe197=) rs748830496 0.00001
NM_016169.4(SUFU):c.597+12G>T rs200418460 0.00001
NM_016169.4(SUFU):c.597+18C>T rs761796540 0.00001
NM_016169.4(SUFU):c.598-12C>T rs768142814 0.00001
NM_016169.4(SUFU):c.609C>T (p.Val203=) rs1267238528 0.00001
NM_016169.4(SUFU):c.615T>C (p.Thr205=) rs1187200623 0.00001
NM_016169.4(SUFU):c.683+12T>C rs1164701799 0.00001
NM_016169.4(SUFU):c.683+17G>A rs1027742260 0.00001
NM_016169.4(SUFU):c.684-12C>T rs1211187751 0.00001
NM_016169.4(SUFU):c.684-9T>C rs746032665 0.00001
NM_016169.4(SUFU):c.690C>T (p.Gly230=) rs775675385 0.00001
NM_016169.4(SUFU):c.693C>A (p.Gly231=) rs200885602 0.00001
NM_016169.4(SUFU):c.726G>A (p.Glu242=) rs1166474720 0.00001
NM_016169.4(SUFU):c.753G>A (p.Leu251=) rs2063435526 0.00001
NM_016169.4(SUFU):c.756+10G>C rs764838079 0.00001
NM_016169.4(SUFU):c.756A>G (p.Gln252=) rs1317467424 0.00001
NM_016169.4(SUFU):c.843C>T (p.Pro281=) rs1590066015 0.00001
NM_016169.4(SUFU):c.846C>T (p.Pro282=) rs762558038 0.00001
NM_016169.4(SUFU):c.849G>A (p.Glu283=) rs751057597 0.00001
NM_016169.4(SUFU):c.84G>T (p.Ser28=) rs376752468 0.00001
NM_016169.4(SUFU):c.894G>T (p.Arg298=) rs372636246 0.00001
NM_016169.4(SUFU):c.910+20A>G rs1442018997 0.00001
NM_016169.4(SUFU):c.910+8C>G rs1159461161 0.00001
NM_016169.4(SUFU):c.910+9C>T rs998413406 0.00001
NM_016169.4(SUFU):c.911-19C>T rs1053684007 0.00001
NM_016169.4(SUFU):c.933C>A (p.Thr311=) rs767071744 0.00001
NM_016169.4(SUFU):c.948C>G (p.Leu316=) rs1236947004 0.00001
NM_016169.4(SUFU):c.96G>A (p.Pro32=) rs1483435746 0.00001
NM_016169.4(SUFU):c.975A>G (p.Pro325=) rs1045258578 0.00001
NM_016169.4(SUFU):c.987T>C (p.Pro329=) rs906267027 0.00001
NM_016169.4(SUFU):c.9G>A (p.Glu3=) rs561651427 0.00001
NM_016169.4(SUFU):c.1002C>T (p.Gly334=)
NM_016169.4(SUFU):c.1017G>A (p.Arg339=) rs2063496731
NM_016169.4(SUFU):c.1022+10C>T
NM_016169.4(SUFU):c.1022+12A>C
NM_016169.4(SUFU):c.1022+15G>A
NM_016169.4(SUFU):c.1022+20del rs1265431746
NM_016169.4(SUFU):c.1023-12C>T
NM_016169.4(SUFU):c.1023-14T>C
NM_016169.4(SUFU):c.1023-15G>A
NM_016169.4(SUFU):c.1023-18C>G
NM_016169.4(SUFU):c.1023-18C>T rs892399500
NM_016169.4(SUFU):c.1023-19T>C
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.1023-6T>C rs2063672832
NM_016169.4(SUFU):c.1023-8C>T rs1554854552
NM_016169.4(SUFU):c.1023-9G>C rs1590082088
NM_016169.4(SUFU):c.1023G>A (p.Pro341=) rs2135929726
NM_016169.4(SUFU):c.1041G>C (p.Leu347=)
NM_016169.4(SUFU):c.1056C>A (p.Ser352=) rs1590082153
NM_016169.4(SUFU):c.1056C>T (p.Ser352=) rs1590082153
NM_016169.4(SUFU):c.105C>T (p.His35=)
NM_016169.4(SUFU):c.1065C>A (p.Ile355=)
NM_016169.4(SUFU):c.1068T>A (p.Ile356=)
NM_016169.4(SUFU):c.1071C>T (p.Pro357=) rs1590082185
NM_016169.4(SUFU):c.1077G>A (p.Glu359=) rs1590082194
NM_016169.4(SUFU):c.1090C>A (p.Arg364=) rs1305395503
NM_016169.4(SUFU):c.111C>T (p.Ile37=)
NM_016169.4(SUFU):c.1122C>T (p.Asn374=) rs1590082264
NM_016169.4(SUFU):c.1134A>G (p.Gly378=)
NM_016169.4(SUFU):c.1140C>G (p.Leu380=)
NM_016169.4(SUFU):c.1146T>C (p.Pro382=) rs1159204850
NM_016169.4(SUFU):c.1149C>T (p.Leu383=)
NM_016169.4(SUFU):c.1152C>T (p.Cys384=) rs1590082342
NM_016169.4(SUFU):c.1155A>G (p.Leu385=)
NM_016169.4(SUFU):c.1157+11C>T
NM_016169.4(SUFU):c.1157+13del
NM_016169.4(SUFU):c.1157+14C>T rs2063675828
NM_016169.4(SUFU):c.1157+17T>G rs2135930605
NM_016169.4(SUFU):c.1157+20CA[4]
NM_016169.4(SUFU):c.1157+7G>C rs371548374
NM_016169.4(SUFU):c.1158-10C>T rs904045520
NM_016169.4(SUFU):c.1158-10_1158-9insT rs2135934819
NM_016169.4(SUFU):c.1158-11C>T rs2135934809
NM_016169.4(SUFU):c.1158-13T>A
NM_016169.4(SUFU):c.1158-13T>G
NM_016169.4(SUFU):c.1158-15T>C rs998644443
NM_016169.4(SUFU):c.1158-18C>G rs2135934793
NM_016169.4(SUFU):c.1158-18_1158-15dup rs2063696440
NM_016169.4(SUFU):c.1158-4C>T rs768603330
NM_016169.4(SUFU):c.1158-8_1158-7insCTG rs2135934830
NM_016169.4(SUFU):c.1158-9C>T
NM_016169.4(SUFU):c.1158G>A (p.Arg386=) rs773979098
NM_016169.4(SUFU):c.1167C>G (p.Leu389=)
NM_016169.4(SUFU):c.1167C>T (p.Leu389=)
NM_016169.4(SUFU):c.1179G>A (p.Arg393=)
NM_016169.4(SUFU):c.1185T>C (p.Phe395=) rs760982248
NM_016169.4(SUFU):c.120G>A (p.Glu40=)
NM_016169.4(SUFU):c.1233G>C (p.Thr411=)
NM_016169.4(SUFU):c.1239G>A (p.Val413=)
NM_016169.4(SUFU):c.1248C>T (p.Ala416=)
NM_016169.4(SUFU):c.1254C>A (p.Ala418=) rs1554854775
NM_016169.4(SUFU):c.1254C>T (p.Ala418=) rs1554854775
NM_016169.4(SUFU):c.1263G>A (p.Glu421=)
NM_016169.4(SUFU):c.1284A>G (p.Gly428=) rs2135935488
NM_016169.4(SUFU):c.1287C>G (p.Pro429=) rs2135935515
NM_016169.4(SUFU):c.1293A>G (p.Leu431=) rs2135935555
NM_016169.4(SUFU):c.1296+13_1296+91del
NM_016169.4(SUFU):c.1296+14T>G rs1489647547
NM_016169.4(SUFU):c.1296+18C>A
NM_016169.4(SUFU):c.1296+18dup
NM_016169.4(SUFU):c.1297-12G>A
NM_016169.4(SUFU):c.1297-15C>T
NM_016169.4(SUFU):c.1297-19C>G
NM_016169.4(SUFU):c.1297-5C>T rs1275187815
NM_016169.4(SUFU):c.1297-7T>C
NM_016169.4(SUFU):c.129C>G (p.Arg43=) rs1453485604
NM_016169.4(SUFU):c.129C>T (p.Arg43=) rs1453485604
NM_016169.4(SUFU):c.1302G>A (p.Leu434=) rs780117353
NM_016169.4(SUFU):c.1308C>G (p.Thr436=)
NM_016169.4(SUFU):c.1365+13G>A
NM_016169.4(SUFU):c.1365+6C>A rs2063794144
NM_016169.4(SUFU):c.1365+7T>A
NM_016169.4(SUFU):c.1365+8T>C
NM_016169.4(SUFU):c.1366-13G>C
NM_016169.4(SUFU):c.1366-15T>A
NM_016169.4(SUFU):c.1366-17G>C
NM_016169.4(SUFU):c.1366-6C>T rs1564712471
NM_016169.4(SUFU):c.1371A>G (p.Lys457=)
NM_016169.4(SUFU):c.138T>C (p.Pro46=)
NM_016169.4(SUFU):c.1398A>G (p.Glu466=) rs2135959452
NM_016169.4(SUFU):c.1416C>T (p.Ser472=) rs1318853616
NM_016169.4(SUFU):c.1419C>T (p.Ile473=) rs1342217589
NM_016169.4(SUFU):c.1422G>T (p.Leu474=)
NM_016169.4(SUFU):c.1434G>A (p.Val478=)
NM_016169.4(SUFU):c.1446G>T (p.Pro482=)
NM_016169.4(SUFU):c.1452C>T (p.His484=) rs2135959647
NM_016169.4(SUFU):c.147G>A (p.Pro49=) rs1554840859
NM_016169.4(SUFU):c.153G>A (p.Pro51=)
NM_016169.4(SUFU):c.156C>T (p.Leu52=) rs1589970169
NM_016169.4(SUFU):c.15G>A (p.Arg5=) rs2062288402
NM_016169.4(SUFU):c.171C>T (p.Ile57=) rs1283661186
NM_016169.4(SUFU):c.182+14C>G rs1256929705
NM_016169.4(SUFU):c.182+17G>T rs2135599022
NM_016169.4(SUFU):c.182+18G>C
NM_016169.4(SUFU):c.182+20G>A rs2135599029
NM_016169.4(SUFU):c.182+7T>A rs759858682
NM_016169.4(SUFU):c.182+7T>C rs759858682
NM_016169.4(SUFU):c.182+9T>C rs756923648
NM_016169.4(SUFU):c.183-10T>C rs1060504148
NM_016169.4(SUFU):c.183-11G>T
NM_016169.4(SUFU):c.183-13T>C
NM_016169.4(SUFU):c.183-16G>A rs2135619783
NM_016169.4(SUFU):c.183-18G>C
NM_016169.4(SUFU):c.183-20C>T rs761472045
NM_016169.4(SUFU):c.183-4del rs1345403982
NM_016169.4(SUFU):c.189T>C (p.Gly63=) rs2135619936
NM_016169.4(SUFU):c.192C>T (p.Gly64=) rs2135619956
NM_016169.4(SUFU):c.201C>T (p.Pro67=)
NM_016169.4(SUFU):c.202T>C (p.Leu68=) rs1589975244
NM_016169.4(SUFU):c.207C>T (p.Asp69=) rs778708985
NM_016169.4(SUFU):c.231G>T (p.Val77=)
NM_016169.4(SUFU):c.240T>G (p.Pro80=) rs2135620342
NM_016169.4(SUFU):c.255C>G (p.Pro85=) rs113671745
NM_016169.4(SUFU):c.258G>A (p.Glu86=) rs1183328233
NM_016169.4(SUFU):c.261C>T (p.His87=)
NM_016169.4(SUFU):c.270C>T (p.Tyr90=) rs2135620594
NM_016169.4(SUFU):c.27C>A (p.Ala9=) rs1244167364
NM_016169.4(SUFU):c.285G>A (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.285G>C (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.285G>T (p.Leu95=) rs1589975337
NM_016169.4(SUFU):c.317+11G>A
NM_016169.4(SUFU):c.317+12C>T
NM_016169.4(SUFU):c.317+15C>T
NM_016169.4(SUFU):c.317+18G>C rs765919055
NM_016169.4(SUFU):c.317+7A>G
NM_016169.4(SUFU):c.317+9A>C rs1333202541
NM_016169.4(SUFU):c.317+9A>G
NM_016169.4(SUFU):c.318-10T>C rs2062894940
NM_016169.4(SUFU):c.318-11A>G
NM_016169.4(SUFU):c.318-11del
NM_016169.4(SUFU):c.318-17C>T
NM_016169.4(SUFU):c.318-19del
NM_016169.4(SUFU):c.318-22_318-19del
NM_016169.4(SUFU):c.318-9G>A
NM_016169.4(SUFU):c.318G>A (p.Glu106=) rs1188593672
NM_016169.4(SUFU):c.327A>G (p.Gly109=) rs2135743007
NM_016169.4(SUFU):c.33C>T (p.Gly11=) rs12780566
NM_016169.4(SUFU):c.357G>A (p.Glu119=)
NM_016169.4(SUFU):c.363C>G (p.Thr121=)
NM_016169.4(SUFU):c.363C>T (p.Thr121=) rs910976342
NM_016169.4(SUFU):c.369_370delinsAT (p.Arg123_Leu124=) rs2135743228
NM_016169.4(SUFU):c.36C>G (p.Pro12=) rs1564654365
NM_016169.4(SUFU):c.36C>T (p.Pro12=)
NM_016169.4(SUFU):c.375G>A (p.Lys125=) rs184867271
NM_016169.4(SUFU):c.399A>G (p.Pro133=)
NM_016169.4(SUFU):c.402A>G (p.Pro134=)
NM_016169.4(SUFU):c.411C>A (p.Pro137=) rs946508687
NM_016169.4(SUFU):c.426G>A (p.Gln142=) rs2135743475
NM_016169.4(SUFU):c.429C>G (p.Gly143=)
NM_016169.4(SUFU):c.42G>A (p.Ala14=) rs1179829804
NM_016169.4(SUFU):c.438A>T (p.Arg146=) rs775280499
NM_016169.4(SUFU):c.447C>T (p.Phe149=) rs2062897233
NM_016169.4(SUFU):c.454+10C>T rs2135743674
NM_016169.4(SUFU):c.454+13G>C
NM_016169.4(SUFU):c.454+13_454+14dup rs780518303
NM_016169.4(SUFU):c.454+15C>T
NM_016169.4(SUFU):c.454+18G>T
NM_016169.4(SUFU):c.454+20TGCTG[3]
NM_016169.4(SUFU):c.454+7G>T
NM_016169.4(SUFU):c.454+8G>A rs1172897703
NM_016169.4(SUFU):c.455-11C>G
NM_016169.4(SUFU):c.455-13A>G
NM_016169.4(SUFU):c.455-13A>T
NM_016169.4(SUFU):c.455-15G>A
NM_016169.4(SUFU):c.455-17T>G rs2135866499
NM_016169.4(SUFU):c.455-19C>A rs370818590
NM_016169.4(SUFU):c.455-19C>T
NM_016169.4(SUFU):c.455-20T>A
NM_016169.4(SUFU):c.455-5C>T rs2135866563
NM_016169.4(SUFU):c.455-6C>T rs2135866556
NM_016169.4(SUFU):c.455-9C>T
NM_016169.4(SUFU):c.45C>A (p.Pro15=)
NM_016169.4(SUFU):c.48G>C (p.Pro16=)
NM_016169.4(SUFU):c.48G>T (p.Pro16=) rs1467238395
NM_016169.4(SUFU):c.492C>T (p.His164=)
NM_016169.4(SUFU):c.516A>C (p.Ser172=)
NM_016169.4(SUFU):c.546C>T (p.Asp182=) rs2135867056
NM_016169.4(SUFU):c.54T>C (p.Pro18=) rs1453186079
NM_016169.4(SUFU):c.558G>A (p.Gln186=)
NM_016169.4(SUFU):c.561C>G (p.Pro187=) rs769503197
NM_016169.4(SUFU):c.570A>G (p.Thr190=)
NM_016169.4(SUFU):c.573C>T (p.Pro191=) rs1170074019
NM_016169.4(SUFU):c.588C>G (p.Thr196=)
NM_016169.4(SUFU):c.597+11G>A rs754485815
NM_016169.4(SUFU):c.597+12G>C
NM_016169.4(SUFU):c.597+13T>C
NM_016169.4(SUFU):c.597+19G>A
NM_016169.4(SUFU):c.597+19G>T
NM_016169.4(SUFU):c.597+5G>A rs1590062007
NM_016169.4(SUFU):c.597+6dup
NM_016169.4(SUFU):c.597+8A>C rs2135867474
NM_016169.4(SUFU):c.597+9C>A
NM_016169.4(SUFU):c.597+9C>T rs768196164
NM_016169.4(SUFU):c.598-12C>G
NM_016169.4(SUFU):c.598-14A>G
NM_016169.4(SUFU):c.598-18T>C
NM_016169.4(SUFU):c.598-4T>C rs2135870306
NM_016169.4(SUFU):c.598-4T>G rs2135870306
NM_016169.4(SUFU):c.598-6C>T rs2135870298
NM_016169.4(SUFU):c.598-8G>C rs2135870288
NM_016169.4(SUFU):c.598-8G>T rs2135870288
NM_016169.4(SUFU):c.600C>A (p.Ile200=)
NM_016169.4(SUFU):c.603T>C (p.Val201=) rs1554852370
NM_016169.4(SUFU):c.60G>T (p.Pro20=) rs1589969926
NM_016169.4(SUFU):c.624A>C (p.Leu208=)
NM_016169.4(SUFU):c.624A>G (p.Leu208=) rs761722899
NM_016169.4(SUFU):c.633C>T (p.Ala211=) rs2135870571
NM_016169.4(SUFU):c.639G>A (p.Gln213=) rs1590062886
NM_016169.4(SUFU):c.63T>C (p.Thr21=) rs1589969931
NM_016169.4(SUFU):c.654C>A (p.Gly218=) rs1227186441
NM_016169.4(SUFU):c.654C>T (p.Gly218=) rs1227186441
NM_016169.4(SUFU):c.660G>A (p.Leu220=) rs2135870749
NM_016169.4(SUFU):c.663G>A (p.Glu221=)
NM_016169.4(SUFU):c.664C>T (p.Leu222=) rs765345575
NM_016169.4(SUFU):c.666G>C (p.Leu222=)
NM_016169.4(SUFU):c.669G>A (p.Leu223=) rs1432212427
NM_016169.4(SUFU):c.669G>C (p.Leu223=)
NM_016169.4(SUFU):c.66C>A (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.66C>G (p.Ala22=)
NM_016169.4(SUFU):c.66C>T (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.678G>T (p.Val226=)
NM_016169.4(SUFU):c.681T>C (p.Pro227=)
NM_016169.4(SUFU):c.683+10C>A
NM_016169.4(SUFU):c.683+10del
NM_016169.4(SUFU):c.683+18G>A
NM_016169.4(SUFU):c.683+19T>C
NM_016169.4(SUFU):c.683+21_683+24dup
NM_016169.4(SUFU):c.683+3G>A rs1590062961
NM_016169.4(SUFU):c.683+7A>G rs764695403
NM_016169.4(SUFU):c.683+8C>G
NM_016169.4(SUFU):c.684-11C>T
NM_016169.4(SUFU):c.684-11del rs1650612996
NM_016169.4(SUFU):c.684-20T>C
NM_016169.4(SUFU):c.684-5C>T
NM_016169.4(SUFU):c.684-6C>T
NM_016169.4(SUFU):c.687T>C (p.Ala229=)
NM_016169.4(SUFU):c.696C>T (p.Pro232=) rs2063434189
NM_016169.4(SUFU):c.69C>G (p.Pro23=)
NM_016169.4(SUFU):c.69C>T (p.Pro23=) rs1320688671
NM_016169.4(SUFU):c.6G>A (p.Ala2=) rs746555296
NM_016169.4(SUFU):c.702G>T (p.Leu234=)
NM_016169.4(SUFU):c.708T>C (p.Thr236=) rs2135872255
NM_016169.4(SUFU):c.711C>T (p.Asp237=)
NM_016169.4(SUFU):c.720G>A (p.Arg240=)
NM_016169.4(SUFU):c.72G>A (p.Pro24=) rs1322344970
NM_016169.4(SUFU):c.741C>T (p.Ile247=) rs2135872473
NM_016169.4(SUFU):c.753G>C (p.Leu251=) rs2063435526
NM_016169.4(SUFU):c.756+12G>C
NM_016169.4(SUFU):c.756+19A>G
NM_016169.4(SUFU):c.757-11_757-7del rs1060501103
NM_016169.4(SUFU):c.757-15G>T rs1564698642
NM_016169.4(SUFU):c.757-17T>G rs2135880991
NM_016169.4(SUFU):c.757-4G>T rs1554852773
NM_016169.4(SUFU):c.757-6A>G rs2135881035
NM_016169.4(SUFU):c.757-7C>T rs2135881029
NM_016169.4(SUFU):c.762A>G (p.Arg254=) rs2135881090
NM_016169.4(SUFU):c.771A>G (p.Lys257=)
NM_016169.4(SUFU):c.774C>A (p.Gly258=) rs2063470954
NM_016169.4(SUFU):c.777C>A (p.Ile259=)
NM_016169.4(SUFU):c.78C>T (p.Phe26=) rs2135597954
NM_016169.4(SUFU):c.795C>T (p.Asn265=) rs2135881259
NM_016169.4(SUFU):c.804T>C (p.Gly268=) rs2135881315
NM_016169.4(SUFU):c.81T>G (p.Ala27=)
NM_016169.4(SUFU):c.822C>T (p.Ala274=) rs2135881424
NM_016169.4(SUFU):c.828T>C (p.Asp276=)
NM_016169.4(SUFU):c.831C>T (p.Asp277=) rs1340330498
NM_016169.4(SUFU):c.832C>T (p.Leu278=) rs1060504147
NM_016169.4(SUFU):c.834G>A (p.Leu278=)
NM_016169.4(SUFU):c.834G>C (p.Leu278=) rs773747013
NM_016169.4(SUFU):c.838C>A (p.Arg280=)
NM_016169.4(SUFU):c.840G>T (p.Arg280=)
NM_016169.4(SUFU):c.843C>A (p.Pro281=) rs1590066015
NM_016169.4(SUFU):c.846C>A (p.Pro282=) rs762558038
NM_016169.4(SUFU):c.846C>G (p.Pro282=) rs762558038
NM_016169.4(SUFU):c.84G>C (p.Ser28=) rs376752468
NM_016169.4(SUFU):c.858G>A (p.Glu286=)
NM_016169.4(SUFU):c.870C>T (p.Ser290=) rs970618921
NM_016169.4(SUFU):c.876C>T (p.Cys292=)
NM_016169.4(SUFU):c.87C>T (p.Leu29=) rs2135598027
NM_016169.4(SUFU):c.882C>T (p.Gly294=) rs2135882176
NM_016169.4(SUFU):c.885A>C (p.Thr295=)
NM_016169.4(SUFU):c.885A>G (p.Thr295=) rs2135882202
NM_016169.4(SUFU):c.891C>G (p.Pro297=) rs1590066144
NM_016169.4(SUFU):c.900C>T (p.Leu300=) rs1174044335
NM_016169.4(SUFU):c.90T>C (p.Phe30=) rs1589970035
NM_016169.4(SUFU):c.910+13A>G
NM_016169.4(SUFU):c.910+15T>G
NM_016169.4(SUFU):c.910+7G>A
NM_016169.4(SUFU):c.910+7G>C
NM_016169.4(SUFU):c.911-10G>A
NM_016169.4(SUFU):c.911-10G>T rs747454071
NM_016169.4(SUFU):c.911-12G>A rs1455480257
NM_016169.4(SUFU):c.911-14T>C
NM_016169.4(SUFU):c.911-17T>C rs2063494764
NM_016169.4(SUFU):c.911-4G>A
NM_016169.4(SUFU):c.911-4G>T rs2135888490
NM_016169.4(SUFU):c.911-8C>T rs771361493
NM_016169.4(SUFU):c.912C>T (p.Asp304=)
NM_016169.4(SUFU):c.927G>A (p.Arg309=)
NM_016169.4(SUFU):c.933C>T (p.Thr311=) rs767071744
NM_016169.4(SUFU):c.939G>A (p.Arg313=)
NM_016169.4(SUFU):c.948C>T (p.Leu316=) rs1236947004
NM_016169.4(SUFU):c.951G>A (p.Glu317=)
NM_016169.4(SUFU):c.969C>G (p.Val323=)
NM_016169.4(SUFU):c.972T>C (p.Leu324=)
NM_016169.4(SUFU):c.978A>G (p.Pro326=)
NM_016169.4(SUFU):c.978A>T (p.Pro326=) rs2135888873
NM_016169.4(SUFU):c.987T>G (p.Pro329=) rs906267027

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