ClinVar Miner

List of variants in gene SUFU studied for Gorlin syndrome; Medulloblastoma

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 967
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_016169.4(SUFU):c.1299T>C (p.Ile433=) rs17114803 0.14628
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_016169.4(SUFU):c.1291T>C (p.Leu431=) rs141950577 0.00487
NM_016169.4(SUFU):c.210T>C (p.Tyr70=) rs35166585 0.00430
NM_016169.4(SUFU):c.528C>T (p.His176=) rs150569584 0.00148
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
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.1445C>T (p.Pro482Leu) rs765358771 0.00020
NM_016169.4(SUFU):c.1308C>T (p.Thr436=) rs142029957 0.00018
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.1121A>G (p.Asn374Ser) rs1265012285 0.00011
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met) rs368020224 0.00011
NM_016169.4(SUFU):c.1245C>T (p.Gly415=) rs144158469 0.00011
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.625C>T (p.His209Tyr) rs770678862 0.00007
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile) rs149449923 0.00006
NM_016169.4(SUFU):c.1113G>A (p.Leu371=) rs745349651 0.00006
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr) rs748099523 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.183-4G>A rs766044613 0.00005
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln) rs141359583 0.00005
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val) rs991500079 0.00004
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.866G>A (p.Arg289Gln) rs149016373 0.00004
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp) rs768170991 0.00004
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr) rs746448939 0.00003
NM_016169.4(SUFU):c.109A>G (p.Ile37Val) rs745793517 0.00003
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.506A>G (p.Asn169Ser) rs142672533 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.896G>A (p.Arg299Gln) rs374946819 0.00003
NM_016169.4(SUFU):c.1008C>T (p.Ala336=) rs770049693 0.00002
NM_016169.4(SUFU):c.1010A>G (p.His337Arg) rs377274250 0.00002
NM_016169.4(SUFU):c.1157+7G>A rs371548374 0.00002
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys) rs766508656 0.00002
NM_016169.4(SUFU):c.1221G>A (p.Thr407=) rs555064651 0.00002
NM_016169.4(SUFU):c.1280A>G (p.His427Arg) rs771305734 0.00002
NM_016169.4(SUFU):c.1300C>T (p.Leu434=) rs369670140 0.00002
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg) rs772598739 0.00002
NM_016169.4(SUFU):c.1437C>T (p.Phe479=) rs768454343 0.00002
NM_016169.4(SUFU):c.169A>G (p.Ile57Val) rs377614167 0.00002
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser) rs141532626 0.00002
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr) rs746322193 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.671G>A (p.Arg224Gln) rs199673680 0.00002
NM_016169.4(SUFU):c.678G>A (p.Val226=) rs201328407 0.00002
NM_016169.4(SUFU):c.682A>G (p.Ile228Val) rs555976050 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.703A>G (p.Ile235Val) rs144666812 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.892C>T (p.Arg298Trp) rs771255988 0.00002
NM_016169.4(SUFU):c.911-16A>C rs777832144 0.00002
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln) rs770246373 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys) rs988284678 0.00002
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe) rs757401093 0.00001
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.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln) rs369910221 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.1022+6T>C rs1216584462 0.00001
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu) rs587778699 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.1027C>T (p.Arg343Cys) rs751728820 0.00001
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln) rs1590082116 0.00001
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln) rs1447671524 0.00001
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr) rs1464341550 0.00001
NM_016169.4(SUFU):c.1073A>G (p.His358Arg) rs1432365875 0.00001
NM_016169.4(SUFU):c.107C>T (p.Ala36Val) rs566714720 0.00001
NM_016169.4(SUFU):c.1085G>A (p.Arg362His) rs755390277 0.00001
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met) rs1554854578 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.1091G>A (p.Arg364Gln) rs749802616 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.1150T>A (p.Cys384Ser) rs375419295 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.1157G>A (p.Arg386Lys) rs767814106 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.1177C>T (p.Arg393Trp) rs201326378 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.1217T>C (p.Ile406Thr) rs1554854758 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.124C>T (p.Arg42Cys) rs2062292519 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.1309G>A (p.Glu437Lys) rs766370528 0.00001
NM_016169.4(SUFU):c.1317T>C (p.Phe439=) rs748603932 0.00001
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn) rs1311816626 0.00001
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile) rs773805575 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.1379A>G (p.Lys460Arg) rs778125780 0.00001
NM_016169.4(SUFU):c.1386C>T (p.Tyr462=) rs2063824214 0.00001
NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn) rs147404195 0.00001
NM_016169.4(SUFU):c.1429G>A (p.Val477Met) rs1060501117 0.00001
NM_016169.4(SUFU):c.1455G>A (p.Ter485=) rs773021913 0.00001
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu) rs1479128337 0.00001
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser) rs200061483 0.00001
NM_016169.4(SUFU):c.178T>C (p.Tyr60His) rs2062294197 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.217A>C (p.Met73Leu) rs1183694060 0.00001
NM_016169.4(SUFU):c.252C>A (p.Ile84=) rs1437282528 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 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.296A>G (p.Tyr99Cys) rs1464640869 0.00001
NM_016169.4(SUFU):c.300T>A (p.Gly100=) rs775876798 0.00001
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp) rs1564657066 0.00001
NM_016169.4(SUFU):c.316G>A (p.Glu106Lys) rs1040654062 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.318G>T (p.Glu106Asp) rs1188593672 0.00001
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala) rs1425171528 0.00001
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg) rs1171604398 0.00001
NM_016169.4(SUFU):c.363C>A (p.Thr121=) rs910976342 0.00001
NM_016169.4(SUFU):c.368G>A (p.Arg123His) rs745958724 0.00001
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser) rs1590019047 0.00001
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter) rs1060501109 0.00001
NM_016169.4(SUFU):c.437G>A (p.Arg146Gln) rs764847917 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.477C>T (p.Asp159=) rs2063415176 0.00001
NM_016169.4(SUFU):c.480T>C (p.His160=) rs1308247295 0.00001
NM_016169.4(SUFU):c.529A>G (p.Met177Val) rs758672583 0.00001
NM_016169.4(SUFU):c.561C>T (p.Pro187=) rs769503197 0.00001
NM_016169.4(SUFU):c.562G>A (p.Val188Met) rs1462013962 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.601G>A (p.Val201Ile) rs147695965 0.00001
NM_016169.4(SUFU):c.602T>C (p.Val201Ala) rs772840788 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.637C>G (p.Gln213Glu) rs907135467 0.00001
NM_016169.4(SUFU):c.644A>G (p.Asn215Ser) rs1178631893 0.00001
NM_016169.4(SUFU):c.645C>T (p.Asn215=) rs551772204 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.691G>A (p.Gly231Ser) rs1457485957 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.728C>A (p.Thr243Asn) rs544734275 0.00001
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn) rs1283509771 0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln) rs1235137905 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.778G>A (p.Glu260Lys) rs775245784 0.00001
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser) rs762258680 0.00001
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly) rs772598822 0.00001
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp) rs761003435 0.00001
NM_016169.4(SUFU):c.842C>T (p.Pro281Leu) rs752387760 0.00001
NM_016169.4(SUFU):c.843C>T (p.Pro281=) rs1590066015 0.00001
NM_016169.4(SUFU):c.845C>A (p.Pro282His) rs2063472026 0.00001
NM_016169.4(SUFU):c.846C>T (p.Pro282=) rs762558038 0.00001
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly) rs763598499 0.00001
NM_016169.4(SUFU):c.849G>A (p.Glu283=) rs751057597 0.00001
NM_016169.4(SUFU):c.856G>A (p.Glu286Lys) rs564728455 0.00001
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr) rs587778698 0.00001
NM_016169.4(SUFU):c.894G>T (p.Arg298=) rs372636246 0.00001
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser) rs1164574977 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.943G>A (p.Gly315Arg) rs141737156 0.00001
NM_016169.4(SUFU):c.948C>G (p.Leu316=) rs1236947004 0.00001
NM_016169.4(SUFU):c.957C>G (p.Asn319Lys) rs535845342 0.00001
NM_016169.4(SUFU):c.967G>A (p.Val323Ile) rs1420089970 0.00001
NM_016169.4(SUFU):c.975A>G (p.Pro325=) rs1045258578 0.00001
NM_016169.4(SUFU):c.979A>G (p.Ile327Val) rs752846043 0.00001
NM_016169.4(SUFU):c.987T>C (p.Pro329=) rs906267027 0.00001
NM_016169.4(SUFU):c.994C>G (p.Gln332Glu) rs747125633 0.00001
NC_000010.10:g.(?_104262628)_(104309873_?)dup
NC_000010.10:g.(?_104263900)_(104389922_?)del
NC_000010.10:g.(?_104352329)_(104352491_?)del
NC_000010.10:g.(?_104352329)_(104353832_?)del
NC_000010.10:g.(?_104352329)_(104377195_?)dup
NC_000010.10:g.(?_104375015)_(104389912_?)del
NC_000010.10:g.(?_104386922)_(104392580_?)del
NC_000010.11:g.(?_102549960)_(102550116_?)del
NC_000010.11:g.(?_102593630)_(102597299_?)del
NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)
NM_016169.4(SUFU):c.1002C>T (p.Gly334=)
NM_016169.4(SUFU):c.1004T>C (p.Leu335Pro) rs2063496437
NM_016169.4(SUFU):c.1009C>T (p.His337Tyr)
NM_016169.4(SUFU):c.1009del (p.His337fs) rs869300423
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn) rs145082320
NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr) rs145082320
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro) rs369910221
NM_016169.4(SUFU):c.1017G>A (p.Arg339=) rs2063496731
NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)
NM_016169.4(SUFU):c.1018del (p.Ala340fs) rs2135889203
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala) rs2063496822
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+1G>A rs587776578
NM_016169.4(SUFU):c.1022+20del rs1265431746
NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
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.1023-2A>T rs1060501105
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.1025G>T (p.Ser342Ile)
NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)
NM_016169.4(SUFU):c.1028G>C (p.Arg343Pro)
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu) rs79299301
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg)
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly) rs1590082122
NM_016169.4(SUFU):c.1037G>T (p.Ser346Ile)
NM_016169.4(SUFU):c.1041G>C (p.Leu347=)
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys) rs1447671524
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr) rs1419645738
NM_016169.4(SUFU):c.1048G>A (p.Asp350Asn)
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)
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.1057A>T (p.Thr353Ser) rs1043574191
NM_016169.4(SUFU):c.1060G>A (p.Ala354Thr) rs1554854570
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly) rs1554854572
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val) rs1564706425
NM_016169.4(SUFU):c.1063A>T (p.Ile355Phe) rs1564706425
NM_016169.4(SUFU):c.1065C>A (p.Ile355=)
NM_016169.4(SUFU):c.1068T>A (p.Ile356=)
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met) rs2063673886
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser)
NM_016169.4(SUFU):c.106G>A (p.Ala36Thr)
NM_016169.4(SUFU):c.1070_1084del (p.Pro357_Ile361del)
NM_016169.4(SUFU):c.1071C>T (p.Pro357=) rs1590082185
NM_016169.4(SUFU):c.1073A>C (p.His358Pro)
NM_016169.4(SUFU):c.1077G>A (p.Glu359=) rs1590082194
NM_016169.4(SUFU):c.1077del (p.Glu359fs) rs2135930082
NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met) rs1590082200
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu) rs755390277
NM_016169.4(SUFU):c.1087A>G (p.Thr363Ala) rs2135930147
NM_016169.4(SUFU):c.1090C>A (p.Arg364=) rs1305395503
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp) rs1305395503
NM_016169.4(SUFU):c.1094A>C (p.Gln365Pro)
NM_016169.4(SUFU):c.1097T>C (p.Leu366Pro) rs2063674539
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg) rs746580970
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu) rs149449923
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala) rs1554854584
NM_016169.4(SUFU):c.111C>T (p.Ile37=)
NM_016169.4(SUFU):c.1120A>G (p.Asn374Asp) rs2063674917
NM_016169.4(SUFU):c.1121A>C (p.Asn374Thr) rs1265012285
NM_016169.4(SUFU):c.1122C>T (p.Asn374=) rs1590082264
NM_016169.4(SUFU):c.1123del (p.Gln375fs) rs2135930329
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
NM_016169.4(SUFU):c.1127A>T (p.Glu376Val)
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg) rs1256959985
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
NM_016169.4(SUFU):c.1134A>G (p.Gly378=)
NM_016169.4(SUFU):c.1135G>C (p.Ala379Pro)
NM_016169.4(SUFU):c.1139T>A (p.Leu380His) rs2063675268
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys) rs2062292284
NM_016169.4(SUFU):c.1140C>G (p.Leu380=)
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
NM_016169.4(SUFU):c.1142T>C (p.Ile381Thr) rs2135930458
NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu) rs1401882800
NM_016169.4(SUFU):c.1146T>C (p.Pro382=) rs1159204850
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
NM_016169.4(SUFU):c.1149C>T (p.Leu383=)
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg) rs375419295
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+1G>A
NM_016169.4(SUFU):c.1157+20CA[4]
NM_016169.4(SUFU):c.1157+7G>C rs371548374
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
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.1158-3C>T rs936830108
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.1159G>A (p.Gly387Ser)
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp)
NM_016169.4(SUFU):c.1167C>G (p.Leu389=)
NM_016169.4(SUFU):c.1167C>T (p.Leu389=)
NM_016169.4(SUFU):c.116G>T (p.Gly39Val) rs756123785
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
NM_016169.4(SUFU):c.1172A>G (p.His391Arg) rs2063696863
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg) rs2063696912
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
NM_016169.4(SUFU):c.1179G>A (p.Arg393=)
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)
NM_016169.4(SUFU):c.1185T>C (p.Phe395=) rs760982248
NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn) rs1421345157
NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr) rs1421345157
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly)
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile) rs776868943
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp) rs2063697237
NM_016169.4(SUFU):c.120G>A (p.Glu40=)
NM_016169.4(SUFU):c.1210A>G (p.Met404Val) rs1312190379
NM_016169.4(SUFU):c.1211T>A (p.Met404Lys) rs2063697367
NM_016169.4(SUFU):c.1211T>C (p.Met404Thr)
NM_016169.4(SUFU):c.1214C>T (p.Ala405Val)
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val) rs1060501116
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met)
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
NM_016169.4(SUFU):c.1231A>G (p.Thr411Ala)
NM_016169.4(SUFU):c.1233G>A (p.Thr411=)
NM_016169.4(SUFU):c.1233G>C (p.Thr411=)
NM_016169.4(SUFU):c.1235G>A (p.Gly412Glu) rs1590084228
NM_016169.4(SUFU):c.1239G>A (p.Val413=)
NM_016169.4(SUFU):c.1244G>A (p.Gly415Asp) rs2135935261
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr) rs779490664
NM_016169.4(SUFU):c.1246G>T (p.Ala416Ser) rs779490664
NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp) rs2063698018
NM_016169.4(SUFU):c.1248C>T (p.Ala416=)
NM_016169.4(SUFU):c.124dup (p.Arg42fs) rs2062292476
NM_016169.4(SUFU):c.1252G>C (p.Ala418Pro) rs2063698088
NM_016169.4(SUFU):c.1252G>T (p.Ala418Ser)
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.1263_1264delinsTT (p.Glu421_His422delinsAspTyr)
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg) rs1590084270
NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val) rs1427876079
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr) rs1189930416
NM_016169.4(SUFU):c.1277C>T (p.Ala426Val) rs772895878
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.1291T>G (p.Leu431Val) rs141950577
NM_016169.4(SUFU):c.1293A>G (p.Leu431=) rs2135935555
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)
NM_016169.4(SUFU):c.1296+10C>T
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.1296+3G>A rs2135935586
NM_016169.4(SUFU):c.1296+4_1296+459del rs2063698594
NM_016169.4(SUFU):c.1296+5G>A
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.130C>T (p.Leu44Phe)
NM_016169.4(SUFU):c.1312del (p.Glu438fs) rs2135954200
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
NM_016169.4(SUFU):c.1316T>C (p.Phe439Ser) rs778975698
NM_016169.4(SUFU):c.1318G>A (p.Val440Ile)
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala) rs2135954241
NM_016169.4(SUFU):c.1322A>T (p.Glu441Val) rs2063793808
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile) rs773805575
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe) rs2135954289
NM_016169.4(SUFU):c.1336G>A (p.Asp446Asn) rs2135954318
NM_016169.4(SUFU):c.1339T>G (p.Leu447Val) rs2135954327
NM_016169.4(SUFU):c.1342G>A (p.Glu448Lys) rs2135954335
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu) rs1564711403
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe) rs774611157
NM_016169.4(SUFU):c.1350G>C (p.Leu450Phe) rs2135954349
NM_016169.4(SUFU):c.1351A>G (p.Thr451Ala)
NM_016169.4(SUFU):c.1355C>A (p.Ser452Tyr) rs2135954353
NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)
NM_016169.4(SUFU):c.1365+13G>A
NM_016169.4(SUFU):c.1365+18_1365+19delinsCC
NM_016169.4(SUFU):c.1365+1G>A rs2063794106
NM_016169.4(SUFU):c.1365+6C>A rs2063794144
NM_016169.4(SUFU):c.1365+6C>T
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.136C>A (p.Pro46Thr)
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser)
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg) rs947720538
NM_016169.4(SUFU):c.1371A>G (p.Lys457=)
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile)
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser) rs2063824067
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu) rs2135598488
NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly)
NM_016169.4(SUFU):c.138T>C (p.Pro46=)
NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
NM_016169.4(SUFU):c.1398A>G (p.Glu466=) rs2135959452
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn) rs2062292973
NM_016169.4(SUFU):c.1415C>T (p.Ser472Phe) rs1590094982
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.1429G>T (p.Val477Leu)
NM_016169.4(SUFU):c.1434G>A (p.Val478=)
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn) rs1318484622
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs) rs1324912821
NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg) rs765358771
NM_016169.4(SUFU):c.1446G>T (p.Pro482=)
NM_016169.4(SUFU):c.1448T>C (p.Leu483Pro) rs1060501115
NM_016169.4(SUFU):c.144G>T (p.Gln48His)
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr) rs2135959641
NM_016169.4(SUFU):c.1450_*18del (p.His484_Ter485del) rs2063824850
NM_016169.4(SUFU):c.1452C>T (p.His484=) rs2135959647
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
NM_016169.4(SUFU):c.145C>G (p.Pro49Ala)
NM_016169.4(SUFU):c.147G>A (p.Pro49=) rs1554840859
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser) rs2062293449
NM_016169.4(SUFU):c.153G>A (p.Pro51=)
NM_016169.4(SUFU):c.154_155delinsAC (p.Leu52Thr) rs2135598653
NM_016169.4(SUFU):c.155T>A (p.Leu52His) rs2135598661
NM_016169.4(SUFU):c.156C>T (p.Leu52=) rs1589970169
NM_016169.4(SUFU):c.157C>T (p.Gln53Ter) rs2135598685
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg) rs1589970174
NM_016169.4(SUFU):c.160G>A (p.Val54Ile) rs2135598727
NM_016169.4(SUFU):c.171C>G (p.Ile57Met) rs1283661186
NM_016169.4(SUFU):c.171C>T (p.Ile57=) rs1283661186
NM_016169.4(SUFU):c.171dup (p.Val58fs) rs1554840869
NM_016169.4(SUFU):c.172G>A (p.Val58Ile)
NM_016169.4(SUFU):c.172G>C (p.Val58Leu) rs766897671
NM_016169.4(SUFU):c.173T>A (p.Val58Asp) rs2135598841
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter) rs1564654588
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)
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+1G>A rs2135598885
NM_016169.4(SUFU):c.182+20G>A rs2135599029
NM_016169.4(SUFU):c.182+3A>C rs1589970228
NM_016169.4(SUFU):c.182+3A>G rs1589970228
NM_016169.4(SUFU):c.182+4T>C rs1268149623
NM_016169.4(SUFU):c.182+6C>T rs889720087
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.183-1G>A rs1554841447
NM_016169.4(SUFU):c.183-1G>T
NM_016169.4(SUFU):c.183-20C>T rs761472045
NM_016169.4(SUFU):c.183-2A>C rs2135619894
NM_016169.4(SUFU):c.183-4_247del
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.200C>G (p.Pro67Arg) rs1564656995
NM_016169.4(SUFU):c.201C>T (p.Pro67=)
NM_016169.4(SUFU):c.202T>C (p.Leu68=) rs1589975244
NM_016169.4(SUFU):c.202T>G (p.Leu68Val) rs1589975244
NM_016169.4(SUFU):c.207C>T (p.Asp69=) rs778708985
NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)
NM_016169.4(SUFU):c.215G>A (p.Ser72Asn) rs1589975269
NM_016169.4(SUFU):c.217A>T (p.Met73Leu) rs1183694060
NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
NM_016169.4(SUFU):c.227A>C (p.Asn76Thr)
NM_016169.4(SUFU):c.229G>A (p.Val77Met)
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
NM_016169.4(SUFU):c.231G>T (p.Val77=)
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu) rs2062368710
NM_016169.4(SUFU):c.236G>C (p.Ser79Thr) rs2135620312
NM_016169.4(SUFU):c.238C>A (p.Pro80Thr)
NM_016169.4(SUFU):c.240T>G (p.Pro80=) rs2135620342
NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)
NM_016169.4(SUFU):c.242C>G (p.Ser81Cys) rs2062368817
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
NM_016169.4(SUFU):c.247A>C (p.Asn83His) rs2135620366
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp) rs2135620366
NM_016169.4(SUFU):c.253C>G (p.Pro85Ala) rs1187640052
NM_016169.4(SUFU):c.253C>T (p.Pro85Ser) rs1187640052
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu)
NM_016169.4(SUFU):c.255C>G (p.Pro85=) rs113671745
NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
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.271A>G (p.Ile91Val) rs759030707
NM_016169.4(SUFU):c.272T>A (p.Ile91Asn) rs781318691
NM_016169.4(SUFU):c.273C>G (p.Ile91Met) rs2062369595
NM_016169.4(SUFU):c.274A>G (p.Ser92Gly) rs2062369652
NM_016169.4(SUFU):c.276C>G (p.Ser92Arg) rs1060501106
NM_016169.4(SUFU):c.279C>A (p.Phe93Leu) rs770218907
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
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.287G>C (p.Ser96Thr) rs2135620752
NM_016169.4(SUFU):c.295T>C (p.Tyr99His) rs2062370032
NM_016169.4(SUFU):c.305A>G (p.Asn102Ser) rs146181245
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
NM_016169.4(SUFU):c.316G>C (p.Glu106Gln) rs1040654062
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+1G>A rs2135621012
NM_016169.4(SUFU):c.317+5G>T rs2062370553
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.317A>G (p.Glu106Gly)
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.318-1G>C rs2135742927
NM_016169.4(SUFU):c.318-22_318-19del
NM_016169.4(SUFU):c.318-3C>T
NM_016169.4(SUFU):c.318-9G>A
NM_016169.4(SUFU):c.318G>A (p.Glu106=) rs1188593672
NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)
NM_016169.4(SUFU):c.327A>G (p.Gly109=) rs2135743007
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu) rs2062895698
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn) rs781192849
NM_016169.4(SUFU):c.341del (p.Ser114fs) rs1060501108
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)
NM_016169.4(SUFU):c.350G>C (p.Gly117Ala) rs1564676348
NM_016169.4(SUFU):c.352T>C (p.Phe118Leu) rs2062895967
NM_016169.4(SUFU):c.357G>A (p.Glu119=)
NM_016169.4(SUFU):c.358T>G (p.Leu120Val) rs1415947980
NM_016169.4(SUFU):c.363C>G (p.Thr121=)
NM_016169.4(SUFU):c.363C>T (p.Thr121=) rs910976342
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu) rs1216193400
NM_016169.4(SUFU):c.369_370delinsAT (p.Arg123_Leu124=) rs2135743228
NM_016169.4(SUFU):c.375G>A (p.Lys125=) rs184867271
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys) rs1280071055
NM_016169.4(SUFU):c.383C>A (p.Thr128Asn)
NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
NM_016169.4(SUFU):c.397C>T (p.Pro133Ser) rs2135743325
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu)
NM_016169.4(SUFU):c.399A>G (p.Pro133=)
NM_016169.4(SUFU):c.402A>G (p.Pro134=)
NM_016169.4(SUFU):c.406T>C (p.Trp136Arg)
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter) rs2135743382
NM_016169.4(SUFU):c.409C>T (p.Pro137Ser) rs1564676427
NM_016169.4(SUFU):c.411C>A (p.Pro137=) rs946508687
NM_016169.4(SUFU):c.413C>T (p.Ala138Val)
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe) rs1060501111
NM_016169.4(SUFU):c.425A>G (p.Gln142Arg) rs2135743469
NM_016169.4(SUFU):c.426G>A (p.Gln142=) rs2135743475
NM_016169.4(SUFU):c.429C>G (p.Gly143=)
NM_016169.4(SUFU):c.429C>T (p.Gly143=) rs2062896951
NM_016169.4(SUFU):c.430T>G (p.Leu144Val) rs2135743501
NM_016169.4(SUFU):c.438A>T (p.Arg146=) rs775280499
NM_016169.4(SUFU):c.442G>A (p.Val148Met) rs763813479
NM_016169.4(SUFU):c.442G>T (p.Val148Leu) rs763813479
NM_016169.4(SUFU):c.447C>T (p.Phe149=) rs2062897233
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
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+1G>A rs1564676479
NM_016169.4(SUFU):c.454+20TGCTG[3]
NM_016169.4(SUFU):c.454+4_454+5del
NM_016169.4(SUFU):c.454+6A>T rs2062897274
NM_016169.4(SUFU):c.454+6_454+8del rs2135743623
NM_016169.4(SUFU):c.454+7G>T
NM_016169.4(SUFU):c.454+8G>A rs1172897703
NM_016169.4(SUFU):c.455-10T>A
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.460A>G (p.Thr154Ala)
NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys) rs2063414949
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg) rs1554852266
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly) rs2063415039
NM_016169.4(SUFU):c.469A>T (p.Ser157Cys)
NM_016169.4(SUFU):c.479A>G (p.His160Arg)
NM_016169.4(SUFU):c.490C>T (p.His164Tyr) rs2063415325
NM_016169.4(SUFU):c.492C>T (p.His164=)
NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
NM_016169.4(SUFU):c.516A>C (p.Ser172=)
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile) rs587778697
NM_016169.4(SUFU):c.521T>A (p.Ile174Asn) rs2063415661
NM_016169.4(SUFU):c.521T>C (p.Ile174Thr) rs2063415661
NM_016169.4(SUFU):c.531G>C (p.Met177Ile)
NM_016169.4(SUFU):c.541G>A (p.Glu181Lys)
NM_016169.4(SUFU):c.544G>A (p.Asp182Asn) rs2135867046
NM_016169.4(SUFU):c.546C>T (p.Asp182=) rs2135867056
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu) rs2063416132
NM_016169.4(SUFU):c.551A>C (p.Gln184Pro) rs2063416174
NM_016169.4(SUFU):c.553A>T (p.Met185Leu)
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
NM_016169.4(SUFU):c.558G>A (p.Gln186=)
NM_016169.4(SUFU):c.561C>G (p.Pro187=) rs769503197
NM_016169.4(SUFU):c.563T>C (p.Val188Ala) rs2063416415
NM_016169.4(SUFU):c.570A>G (p.Thr190=)
NM_016169.4(SUFU):c.573C>T (p.Pro191=) rs1170074019
NM_016169.4(SUFU):c.576dup (p.Gly193fs) rs2135867295
NM_016169.4(SUFU):c.581T>C (p.Val194Ala)
NM_016169.4(SUFU):c.581del (p.Val194fs)
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs) rs1554852279
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro) rs2135867363
NM_016169.4(SUFU):c.586A>G (p.Thr196Ala) rs2135867363
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile) rs2063416715
NM_016169.4(SUFU):c.588C>G (p.Thr196=)
NM_016169.4(SUFU):c.592C>G (p.Leu198Val)
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+15G>A
NM_016169.4(SUFU):c.597+19G>A
NM_016169.4(SUFU):c.597+19G>T
NM_016169.4(SUFU):c.597+1G>C rs1590062006
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.597G>A (p.Gln199=) rs1060501112
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.600C>G (p.Ile200Met) rs149513330
NM_016169.4(SUFU):c.603T>C (p.Val201=) rs1554852370
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile) rs1478836560
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys) rs1590062858
NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
NM_016169.4(SUFU):c.624A>C (p.Leu208=)
NM_016169.4(SUFU):c.624A>G (p.Leu208=) rs761722899
NM_016169.4(SUFU):c.626A>C (p.His209Pro) rs1590062872
NM_016169.4(SUFU):c.633C>T (p.Ala211=) rs2135870571
NM_016169.4(SUFU):c.635A>G (p.Gln212Arg) rs2063428727
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter) rs907135467
NM_016169.4(SUFU):c.639G>A (p.Gln213=) rs1590062886
NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys) rs551772204
NM_016169.4(SUFU):c.646G>A (p.Gly216Arg) rs2063429038
NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
NM_016169.4(SUFU):c.649_661del (p.Gln217fs) rs1590062899
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.661G>A (p.Glu221Lys)
NM_016169.4(SUFU):c.663G>A (p.Glu221=)
NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
NM_016169.4(SUFU):c.664C>G (p.Leu222Val) rs765345575
NM_016169.4(SUFU):c.664C>T (p.Leu222=) rs765345575
NM_016169.4(SUFU):c.666G>C (p.Leu222=)
NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
NM_016169.4(SUFU):c.669G>A (p.Leu223=) rs1432212427
NM_016169.4(SUFU):c.669G>C (p.Leu223=)
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp) rs1590062935
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser) rs2063429642
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg) rs1432427138
NM_016169.4(SUFU):c.677T>C (p.Val226Ala) rs895181370
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+1G>A rs2135870923
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+7A>T
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.684-2A>G rs1590063305
NM_016169.4(SUFU):c.684-5C>T
NM_016169.4(SUFU):c.684-6C>T
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly) rs1590063307
NM_016169.4(SUFU):c.686C>T (p.Ala229Val) rs1590063307
NM_016169.4(SUFU):c.687T>C (p.Ala229=)
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala) rs1060501110
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser) rs1060501110
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu) rs1240436102
NM_016169.4(SUFU):c.696C>T (p.Pro232=) rs2063434189
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg) rs1590063333
NM_016169.4(SUFU):c.702G>T (p.Leu234=)
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
NM_016169.4(SUFU):c.708T>C (p.Thr236=) rs2135872255
NM_016169.4(SUFU):c.711C>T (p.Asp237=)
NM_016169.4(SUFU):c.712A>G (p.Met238Val) rs2063434374
NM_016169.4(SUFU):c.713T>C (p.Met238Thr) rs2063434396
NM_016169.4(SUFU):c.714G>A (p.Met238Ile)
NM_016169.4(SUFU):c.715C>G (p.Arg239Gly) rs369465986
NM_016169.4(SUFU):c.715C>T (p.Arg239Trp) rs369465986
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084
NM_016169.4(SUFU):c.720G>A (p.Arg240=)
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser) rs762294261
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr) rs2063435042
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser) rs1303650670
NM_016169.4(SUFU):c.741C>G (p.Ile247Met) rs2135872473
NM_016169.4(SUFU):c.741C>T (p.Ile247=) rs2135872473
NM_016169.4(SUFU):c.742G>C (p.Asp248His) rs1283509771
NM_016169.4(SUFU):c.743A>G (p.Asp248Gly) rs2135872517
NM_016169.4(SUFU):c.748C>T (p.His250Tyr) rs2135872528
NM_016169.4(SUFU):c.749A>G (p.His250Arg) rs750808785
NM_016169.4(SUFU):c.753G>C (p.Leu251=) rs2063435526
NM_016169.4(SUFU):c.753_756+2dup rs2063435496
NM_016169.4(SUFU):c.756+10G>T
NM_016169.4(SUFU):c.756+12G>C
NM_016169.4(SUFU):c.756+19A>G
NM_016169.4(SUFU):c.756A>C (p.Gln252His) rs1317467424
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.757-5A>G rs1590065871
NM_016169.4(SUFU):c.757-6A>G rs2135881035
NM_016169.4(SUFU):c.757-7C>T rs2135881029
NM_016169.4(SUFU):c.757G>A (p.Glu253Lys)
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly) rs2135881068
NM_016169.4(SUFU):c.761G>C (p.Arg254Thr) rs2135881076
NM_016169.4(SUFU):c.762A>G (p.Arg254=) rs2135881090
NM_016169.4(SUFU):c.771A>G (p.Lys257=)
NM_016169.4(SUFU):c.773G>C (p.Gly258Ala)
NM_016169.4(SUFU):c.774C>A (p.Gly258=) rs2063470954
NM_016169.4(SUFU):c.775A>G (p.Ile259Val)
NM_016169.4(SUFU):c.777C>A (p.Ile259=)
NM_016169.4(SUFU):c.777C>G (p.Ile259Met) rs749533220
NM_016169.4(SUFU):c.778G>C (p.Glu260Gln) rs775245784
NM_016169.4(SUFU):c.781A>C (p.Thr261Pro) rs2063471103
NM_016169.4(SUFU):c.782C>T (p.Thr261Ile) rs2135881195
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)
NM_016169.4(SUFU):c.795C>T (p.Asn265=) rs2135881259
NM_016169.4(SUFU):c.803G>A (p.Gly268Asp)
NM_016169.4(SUFU):c.804T>C (p.Gly268=) rs2135881315
NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)
NM_016169.4(SUFU):c.810T>G (p.Ser270Arg) rs2063471312
NM_016169.4(SUFU):c.811_818dup (p.Cys273fs) rs2063471372
NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)
NM_016169.4(SUFU):c.815A>C (p.Lys272Thr)
NM_016169.4(SUFU):c.815A>G (p.Lys272Arg) rs2063471403
NM_016169.4(SUFU):c.820G>A (p.Ala274Thr)
NM_016169.4(SUFU):c.822C>T (p.Ala274=) rs2135881424
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter) rs1564698683
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter) rs1590065940
NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
NM_016169.4(SUFU):c.827A>T (p.Asp276Val) rs772598822
NM_016169.4(SUFU):c.828T>C (p.Asp276=)
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
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.836G>A (p.Ser279Asn) rs1486885056
NM_016169.4(SUFU):c.837C>G (p.Ser279Arg) rs1564698718
NM_016169.4(SUFU):c.838C>A (p.Arg280=)
NM_016169.4(SUFU):c.840G>T (p.Arg280=)
NM_016169.4(SUFU):c.841C>A (p.Pro281Thr) rs2063471841
NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)
NM_016169.4(SUFU):c.841C>T (p.Pro281Ser) rs2063471841
NM_016169.4(SUFU):c.843C>A (p.Pro281=) rs1590066015
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala) rs1215810497
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.846dup (p.Glu283fs) rs1477199832
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys) rs1554852789
NM_016169.4(SUFU):c.847G>C (p.Glu283Gln) rs1554852789
NM_016169.4(SUFU):c.847dup (p.Glu283fs) rs2063472158
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)
NM_016169.4(SUFU):c.852_860dup (p.Asp285_Asp287dup) rs2135881773
NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup) rs1363458155
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu) rs200206997
NM_016169.4(SUFU):c.858G>A (p.Glu286=)
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp) rs1007675139
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn) rs750436246
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs) rs2135881899
NM_016169.4(SUFU):c.862A>T (p.Ser288Cys) rs2135881950
NM_016169.4(SUFU):c.865C>G (p.Arg289Gly) rs755961394
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp) rs755961394
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly) rs1406131774
NM_016169.4(SUFU):c.869G>A (p.Ser290Asn) rs749461207
NM_016169.4(SUFU):c.870C>T (p.Ser290=) rs970618921
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr) rs193921097
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe) rs193921097
NM_016169.4(SUFU):c.876C>T (p.Cys292=)
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn) rs1487599100
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp) rs761234425
NM_016169.4(SUFU):c.882C>T (p.Gly294=) rs2135882176
NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)
NM_016169.4(SUFU):c.885A>C (p.Thr295=)
NM_016169.4(SUFU):c.885A>G (p.Thr295=) rs2135882202
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter) rs2135882212
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg) rs2135882221
NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu) rs1590066137
NM_016169.4(SUFU):c.891C>G (p.Pro297=) rs1590066144
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly)
NM_016169.4(SUFU):c.892del (p.Arg298fs) rs2063473101
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln) rs1197687313
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs) rs2135882232
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
NM_016169.4(SUFU):c.895C>G (p.Arg299Gly)
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter) rs1590066162
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs) rs1564698850
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
NM_016169.4(SUFU):c.900C>T (p.Leu300=) rs1174044335
NM_016169.4(SUFU):c.902C>G (p.Ser301Cys) rs1554852823
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe) rs1554852823
NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)
NM_016169.4(SUFU):c.910+13A>G
NM_016169.4(SUFU):c.910+15T>G
NM_016169.4(SUFU):c.910+4G>A rs1060501104
NM_016169.4(SUFU):c.910+5G>A rs2135882479
NM_016169.4(SUFU):c.910+7G>A
NM_016169.4(SUFU):c.910+7G>C
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn)
NM_016169.4(SUFU):c.910G>T (p.Asp304Tyr)
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.911-1G>T
NM_016169.4(SUFU):c.911-2A>C
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.913A>G (p.Thr305Ala) rs1590067989
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser) rs1590067989
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
NM_016169.4(SUFU):c.924C>G (p.Ile308Met)
NM_016169.4(SUFU):c.927G>A (p.Arg309=)
NM_016169.4(SUFU):c.928G>C (p.Glu310Gln) rs376797758
NM_016169.4(SUFU):c.933C>T (p.Thr311=) rs767071744
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer) rs2135888594
NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)
NM_016169.4(SUFU):c.939G>A (p.Arg313=)
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys) rs369741612
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu) rs2135888649
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe) rs1554853004
NM_016169.4(SUFU):c.948C>T (p.Leu316=) rs1236947004
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del) rs2063495678
NM_016169.4(SUFU):c.951G>A (p.Glu317=)
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser) rs1479527039
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn) rs753862598
NM_016169.4(SUFU):c.959G>C (p.Ser320Thr) rs753862598
NM_016169.4(SUFU):c.960C>A (p.Ser320Arg) rs754716152
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)
NM_016169.4(SUFU):c.965C>A (p.Pro322His) rs2135888788
NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)
NM_016169.4(SUFU):c.969C>G (p.Val323=)
NM_016169.4(SUFU):c.970C>T (p.Leu324Phe) rs2063495996
NM_016169.4(SUFU):c.972T>C (p.Leu324=)
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu) rs2135888846
NM_016169.4(SUFU):c.978A>G (p.Pro326=)
NM_016169.4(SUFU):c.978A>T (p.Pro326=) rs2135888873
NM_016169.4(SUFU):c.983A>G (p.Asn328Ser) rs2135888901
NM_016169.4(SUFU):c.985C>G (p.Pro329Ala) rs2063496120
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser)
NM_016169.4(SUFU):c.987T>G (p.Pro329=) rs906267027
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg) rs1060501107
NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.