ClinVar Miner

List of variants studied for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 594
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_005055.5(RAPSN):c.193-15C>T rs45547231 0.11040
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_005055.5(RAPSN):c.193-14G>A rs114738594 0.00529
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00332
NM_005055.5(RAPSN):c.913-15A>G rs185204384 0.00203
NM_005055.5(RAPSN):c.960G>A (p.Gly320=) rs145357531 0.00200
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00147
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00062
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln) rs139398367 0.00059
NM_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00044
NM_005055.5(RAPSN):c.1166+16G>A rs377580268 0.00043
NM_005055.5(RAPSN):c.816C>T (p.Ala272=) rs779303374 0.00028
NM_005055.5(RAPSN):c.903G>A (p.Ala301=) rs56040810 0.00028
NM_005055.5(RAPSN):c.776G>A (p.Arg259His) rs766051613 0.00024
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) rs149683345 0.00016
NM_005055.5(RAPSN):c.225G>A (p.Glu75=) rs147923114 0.00014
NM_005055.5(RAPSN):c.691-11C>T rs776781597 0.00012
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=) rs139525851 0.00011
NM_005055.5(RAPSN):c.363C>T (p.Leu121=) rs190548363 0.00011
NM_005055.5(RAPSN):c.640G>A (p.Val214Met) rs201124957 0.00011
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp) rs201725858 0.00010
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln) rs200066826 0.00010
NM_005055.5(RAPSN):c.864G>A (p.Ala288=) rs147966227 0.00010
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00009
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys) rs367565995 0.00009
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys) rs150207592 0.00008
NM_005055.5(RAPSN):c.790-5T>C rs369823690 0.00008
NM_005055.5(RAPSN):c.1166+13G>C rs745720985 0.00007
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp) rs201796294 0.00007
NM_005055.5(RAPSN):c.193-11G>A rs375072276 0.00007
NM_005055.5(RAPSN):c.1166+14G>C rs774372753 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005055.5(RAPSN):c.30C>T (p.Ile10=) rs768838402 0.00006
NM_005055.5(RAPSN):c.690+10C>T rs78293924 0.00006
NM_005055.5(RAPSN):c.756C>T (p.Phe252=) rs758794718 0.00006
NM_005055.5(RAPSN):c.790-19C>A rs756253036 0.00006
NM_005055.5(RAPSN):c.948C>T (p.Ala316=) rs374676714 0.00006
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.192+17T>C rs761705716 0.00005
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile) rs200892332 0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) rs770633491 0.00005
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys) rs200550567 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005055.5(RAPSN):c.690+4G>A rs201803329 0.00005
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00005
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys) rs772054419 0.00005
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser) rs372865599 0.00004
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp) rs145507075 0.00004
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His) rs762532220 0.00004
NM_005055.5(RAPSN):c.216G>A (p.Thr72=) rs141877523 0.00004
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys) rs769989407 0.00004
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser) rs138863694 0.00004
NM_005055.5(RAPSN):c.690+19G>A rs183974908 0.00004
NM_005055.5(RAPSN):c.705C>T (p.Ile235=) rs562539081 0.00004
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp) rs1005550058 0.00004
NM_005055.5(RAPSN):c.789+12G>A rs747658566 0.00004
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu) rs376607111 0.00004
NM_005055.5(RAPSN):c.1050G>C (p.Val350=) rs753196993 0.00003
NM_005055.5(RAPSN):c.1059C>T (p.His353=) rs544722226 0.00003
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly) rs768059942 0.00003
NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys) rs201197735 0.00003
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr) rs145197671 0.00003
NM_005055.5(RAPSN):c.246C>T (p.Leu82=) rs780420252 0.00003
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val) rs543224303 0.00003
NM_005055.5(RAPSN):c.567G>A (p.Ala189=) rs886043559 0.00003
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr) rs545915312 0.00003
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln) rs780963721 0.00003
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr) rs771749514 0.00003
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg) rs778371396 0.00003
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val) rs760068830 0.00003
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00003
NM_005055.5(RAPSN):c.966+16G>A rs759757902 0.00003
NM_005055.5(RAPSN):c.967-19C>G rs1397469414 0.00003
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.1002C>T (p.Ser334=) rs376829572 0.00002
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys) rs749939119 0.00002
NM_005055.5(RAPSN):c.1167-17G>A rs770347768 0.00002
NM_005055.5(RAPSN):c.1194C>T (p.Ser398=) rs1013183854 0.00002
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln) rs1380619456 0.00002
NM_005055.5(RAPSN):c.360G>T (p.Gln120His) rs780338213 0.00002
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) rs1479498379 0.00002
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr) rs199506866 0.00002
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294 0.00002
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe) rs376041895 0.00002
NM_005055.5(RAPSN):c.650G>A (p.Arg217His) rs763058066 0.00002
NM_005055.5(RAPSN):c.717C>T (p.His239=) rs576729861 0.00002
NM_005055.5(RAPSN):c.729A>G (p.Pro243=) rs1297914613 0.00002
NM_005055.5(RAPSN):c.784C>T (p.Leu262=) rs938477956 0.00002
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn) rs768011436 0.00002
NM_005055.5(RAPSN):c.912+11G>A rs780444573 0.00002
NM_005055.5(RAPSN):c.912+20A>G rs763929869 0.00002
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His) rs768445220 0.00001
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=) rs746911276 0.00001
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln) rs757902272 0.00001
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=) rs778622975 0.00001
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp) rs529117281 0.00001
NM_005055.5(RAPSN):c.1038G>A (p.Arg346=) rs764482974 0.00001
NM_005055.5(RAPSN):c.1044C>T (p.His348=) rs1014137280 0.00001
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp) rs373648358 0.00001
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=) rs763094966 0.00001
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs) rs1475015182 0.00001
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met) rs768394140 0.00001
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=) rs565321918 0.00001
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val) rs1231669536 0.00001
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=) rs763018407 0.00001
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=) rs150934532 0.00001
NM_005055.5(RAPSN):c.108C>T (p.Ser36=) rs1217801936 0.00001
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys) rs756519962 0.00001
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=) rs150503333 0.00001
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys) rs1392137684 0.00001
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=) rs1048200516 0.00001
NM_005055.5(RAPSN):c.111G>A (p.Ser37=) rs146825957 0.00001
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln) rs1241928450 0.00001
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=) rs1194287140 0.00001
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=) rs1368702539 0.00001
NM_005055.5(RAPSN):c.1166+17G>A rs374895999 0.00001
NM_005055.5(RAPSN):c.1166+18G>A rs536788411 0.00001
NM_005055.5(RAPSN):c.1166+7G>T rs1395269562 0.00001
NM_005055.5(RAPSN):c.1167-20A>G rs954785577 0.00001
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=) rs1353799875 0.00001
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142 0.00001
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser) rs370123138 0.00001
NM_005055.5(RAPSN):c.1182C>T (p.Asn394=) rs530896580 0.00001
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys) rs1165174416 0.00001
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys) rs750941408 0.00001
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=) rs2076326463 0.00001
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr) rs1486159580 0.00001
NM_005055.5(RAPSN):c.125G>A (p.Arg42His) rs201399991 0.00001
NM_005055.5(RAPSN):c.132C>T (p.Arg44=) rs772917848 0.00001
NM_005055.5(RAPSN):c.150C>A (p.Val50=) rs768214983 0.00001
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu) rs750772292 0.00001
NM_005055.5(RAPSN):c.192+12C>T rs774654232 0.00001
NM_005055.5(RAPSN):c.192+13G>A rs750037387 0.00001
NM_005055.5(RAPSN):c.192+7G>T rs767745050 0.00001
NM_005055.5(RAPSN):c.193-16C>A rs926898280 0.00001
NM_005055.5(RAPSN):c.195C>T (p.Phe65=) rs772563068 0.00001
NM_005055.5(RAPSN):c.210C>T (p.Ile70=) rs773975835 0.00001
NM_005055.5(RAPSN):c.219C>G (p.Ala73=) rs2076424955 0.00001
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp) rs778157857 0.00001
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln) rs568433059 0.00001
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys) rs11556408 0.00001
NM_005055.5(RAPSN):c.237C>T (p.Ala79=) rs888989685 0.00001
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn) rs781724566 0.00001
NM_005055.5(RAPSN):c.249G>A (p.Leu83=) rs1160614533 0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys) rs767507908 0.00001
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala) rs770016019 0.00001
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr) rs1341207988 0.00001
NM_005055.5(RAPSN):c.321G>A (p.Lys107=) rs781529364 0.00001
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe) rs1164228546 0.00001
NM_005055.5(RAPSN):c.336G>T (p.Leu112=) rs747080013 0.00001
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp) rs1047615316 0.00001
NM_005055.5(RAPSN):c.345C>A (p.Thr115=) rs1353205717 0.00001
NM_005055.5(RAPSN):c.369C>T (p.Gly123=) rs1211432610 0.00001
NM_005055.5(RAPSN):c.379C>T (p.Leu127=) rs755812852 0.00001
NM_005055.5(RAPSN):c.408C>T (p.Leu136=) rs1466576877 0.00001
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe) rs1256816164 0.00001
NM_005055.5(RAPSN):c.411C>T (p.Ser137=) rs765810820 0.00001
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) rs104894300 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005055.5(RAPSN):c.429G>A (p.Leu143=) rs762052702 0.00001
NM_005055.5(RAPSN):c.438C>T (p.Phe146=) rs1459059463 0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys) rs560525099 0.00001
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys) rs1326936118 0.00001
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys) rs148600999 0.00001
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr) rs780985479 0.00001
NM_005055.5(RAPSN):c.483C>T (p.Leu161=) rs754775068 0.00001
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) rs121909255 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.528C>G (p.Val176=) rs761149747 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.532-12T>C rs768129120 0.00001
NM_005055.5(RAPSN):c.532-5T>C rs1296891027 0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys) rs1452482859 0.00001
NM_005055.5(RAPSN):c.558C>T (p.Pro186=) rs773462623 0.00001
NM_005055.5(RAPSN):c.576T>C (p.Leu192=) rs745749798 0.00001
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile) rs747627949 0.00001
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp) rs756738642 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005055.5(RAPSN):c.645C>T (p.Ala215=) rs1338665465 0.00001
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys) rs766845970 0.00001
NM_005055.5(RAPSN):c.662G>A (p.Arg221His) rs1377574572 0.00001
NM_005055.5(RAPSN):c.669C>T (p.Gly223=) rs1168766907 0.00001
NM_005055.5(RAPSN):c.690+11G>A rs755202774 0.00001
NM_005055.5(RAPSN):c.690+14G>T rs752360126 0.00001
NM_005055.5(RAPSN):c.691-5C>T rs1291023159 0.00001
NM_005055.5(RAPSN):c.708G>A (p.Ala236=) rs770777539 0.00001
NM_005055.5(RAPSN):c.723C>T (p.Asp241=) rs769383562 0.00001
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro) rs780963721 0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) rs559933584 0.00001
NM_005055.5(RAPSN):c.738G>A (p.Ala246=) rs889862832 0.00001
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn) rs750888238 0.00001
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp) rs753956536 0.00001
NM_005055.5(RAPSN):c.76T>C (p.Leu26=) rs202091676 0.00001
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn) rs762865029 0.00001
NM_005055.5(RAPSN):c.789+11C>T rs769894057 0.00001
NM_005055.5(RAPSN):c.789+17G>A rs369690955 0.00001
NM_005055.5(RAPSN):c.790-17C>G rs1159217971 0.00001
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr) rs200695559 0.00001
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter) rs2076433607 0.00001
NM_005055.5(RAPSN):c.813C>T (p.Ser271=) rs760253392 0.00001
NM_005055.5(RAPSN):c.825C>T (p.Ile275=) rs1198578005 0.00001
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu) rs199984356 0.00001
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys) rs1418635230 0.00001
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys) rs751845474 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005055.5(RAPSN):c.897G>A (p.Arg299=) rs1198546329 0.00001
NM_005055.5(RAPSN):c.90A>G (p.Thr30=) rs753896492 0.00001
NM_005055.5(RAPSN):c.912+11G>T rs780444573 0.00001
NM_005055.5(RAPSN):c.912+18C>T rs1361565088 0.00001
NM_005055.5(RAPSN):c.912+6G>A rs781362707 0.00001
NM_005055.5(RAPSN):c.912+8C>T rs375174267 0.00001
NM_005055.5(RAPSN):c.913-18C>T rs570429072 0.00001
NM_005055.5(RAPSN):c.915T>C (p.Ala305=) rs200289519 0.00001
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser) rs766003422 0.00001
NM_005055.5(RAPSN):c.927C>T (p.Ile309=) rs144813373 0.00001
NM_005055.5(RAPSN):c.957G>C (p.Val319=) rs794727796 0.00001
NM_005055.5(RAPSN):c.966+14C>G rs367798233 0.00001
NM_005055.5(RAPSN):c.967-10C>T rs754320492 0.00001
NM_005055.5(RAPSN):c.967-5C>A rs374686678 0.00001
NM_005055.5(RAPSN):c.987C>T (p.His329=) rs1340342787 0.00001
NC_000011.10:g.(?_47437955)_(47438951_?)del
NC_000011.10:g.(?_47437965)_(47438941_?)del
NC_000011.10:g.(?_47447802)_(47449175_?)del
NC_000011.9:g.(?_46880534)_(47470516_?)del
NC_000011.9:g.(?_47431646)_(47470726_?)dup
NC_000011.9:g.(?_47455479)_(47460424_?)del
NC_000011.9:g.(?_47459516)_(47459608_?)del
NC_000011.9:g.(?_47459516)_(47464376_?)del
NC_000011.9:g.(?_47460273)_(47460492_?)del
NC_000011.9:g.(?_47462700)_(47463483_?)del
NC_000011.9:g.(?_47467519)_(47469609_?)del
NC_000011.9:g.(?_47469354)_(47470726_?)del
NC_000011.9:g.(?_47469557)_(47478800_?)del
NM_005055.5(RAPSN):c.-199C>G rs886037842
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys) rs549232026
NM_005055.5(RAPSN):c.1020G>A (p.Gly340=) rs866154432
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs) rs765096923
NM_005055.5(RAPSN):c.102G>A (p.Glu34=) rs2076432091
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly) rs1252992478
NM_005055.5(RAPSN):c.1047T>C (p.Val349=) rs2496086213
NM_005055.5(RAPSN):c.1050G>A (p.Val350=) rs753196993
NM_005055.5(RAPSN):c.105G>A (p.Lys35=) rs2153311746
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter) rs763094966
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln) rs1595896567
NM_005055.5(RAPSN):c.1071G>A (p.Glu357=) rs2496085960
NM_005055.5(RAPSN):c.1074G>A (p.Glu358=) rs1258420045
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=) rs565321918
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=) rs565321918
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=) rs778228002
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu) rs764114482
NM_005055.5(RAPSN):c.1116G>A (p.Glu372=) rs2153306751
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del) rs759488854
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu) rs1241928450
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=) rs2076335581
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=) rs1212601756
NM_005055.5(RAPSN):c.1138C>T (p.Leu380=) rs1334900324
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=) rs1212403963
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys) rs1197895855
NM_005055.5(RAPSN):c.1149C>T (p.Ser383=) rs765481657
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln) rs1432564243
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val) rs1469646172
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe) rs1469646172
NM_005055.5(RAPSN):c.1164C>T (p.Leu388=) rs866022685
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=) rs2153306679
NM_005055.5(RAPSN):c.1166+10C>G rs2496084601
NM_005055.5(RAPSN):c.1166+10C>T rs2496084601
NM_005055.5(RAPSN):c.1166+11C>T
NM_005055.5(RAPSN):c.1166+13G>A rs745720985
NM_005055.5(RAPSN):c.1166+13G>T rs745720985
NM_005055.5(RAPSN):c.1166+14G>A rs774372753
NM_005055.5(RAPSN):c.1166+15G>A rs556595562
NM_005055.5(RAPSN):c.1166+15G>C rs556595562
NM_005055.5(RAPSN):c.1166+15G>T rs556595562
NM_005055.5(RAPSN):c.1166+16G>T rs377580268
NM_005055.5(RAPSN):c.1166+18G>C rs536788411
NM_005055.5(RAPSN):c.1166+19G>A rs1193531433
NM_005055.5(RAPSN):c.1166+19del rs760797252
NM_005055.5(RAPSN):c.1166+19dup rs760797252
NM_005055.5(RAPSN):c.1166+1G>C rs1325133502
NM_005055.5(RAPSN):c.1166+1G>T rs1325133502
NM_005055.5(RAPSN):c.1166+2T>G rs748561503
NM_005055.5(RAPSN):c.1166+7G>A rs1395269562
NM_005055.5(RAPSN):c.1167-12T>C rs2496081004
NM_005055.5(RAPSN):c.1167-19G>A
NM_005055.5(RAPSN):c.1167-5C>T
NM_005055.5(RAPSN):c.1167-8C>T rs2076327670
NM_005055.5(RAPSN):c.1167-9C>T rs2496080991
NM_005055.5(RAPSN):c.1168del (p.Cys390fs) rs2496080892
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=) rs2153306281
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=) rs867439892
NM_005055.5(RAPSN):c.117C>T (p.Leu39=)
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg) rs768882267
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp) rs768882267
NM_005055.5(RAPSN):c.1185G>A (p.Gly395=) rs1287446389
NM_005055.5(RAPSN):c.1185del (p.Thr396fs) rs2153306243
NM_005055.5(RAPSN):c.1189C>A (p.Arg397=) rs201796294
NM_005055.5(RAPSN):c.11dup (p.Asp4fs) rs1565689206
NM_005055.5(RAPSN):c.1218C>T (p.Ser406=) rs146285971
NM_005055.5(RAPSN):c.1236A>G (p.Val412=) rs2496080173
NM_005055.5(RAPSN):c.123G>A (p.Gly41=) rs2496137437
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu) rs121909254
NM_005055.5(RAPSN):c.141C>T (p.Gly47=)
NM_005055.5(RAPSN):c.156C>A (p.Ala52=) rs779745547
NM_005055.5(RAPSN):c.156C>T (p.Ala52=) rs779745547
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr) rs2076431469
NM_005055.5(RAPSN):c.171C>T (p.Gly57=) rs757645214
NM_005055.5(RAPSN):c.173G>A (p.Arg58His) rs373437117
NM_005055.5(RAPSN):c.174C>A (p.Arg58=) rs2153311690
NM_005055.5(RAPSN):c.174C>T (p.Arg58=)
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His) rs1555143594
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys) rs2153311689
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter) rs2076431110
NM_005055.5(RAPSN):c.180G>A (p.Lys60=) rs2496136774
NM_005055.5(RAPSN):c.183G>A (p.Glu61=) rs2496136728
NM_005055.5(RAPSN):c.189G>A (p.Leu63=) rs2496136682
NM_005055.5(RAPSN):c.192+10C>A rs1202888760
NM_005055.5(RAPSN):c.192+10C>T rs1202888760
NM_005055.5(RAPSN):c.192+11C>T rs1029760444
NM_005055.5(RAPSN):c.192+12del rs776703465
NM_005055.5(RAPSN):c.192+2T>G rs2496136668
NM_005055.5(RAPSN):c.192+5G>T rs752783661
NM_005055.5(RAPSN):c.192+7G>A rs767745050
NM_005055.5(RAPSN):c.192+8T>C rs759724477
NM_005055.5(RAPSN):c.192+9dup rs2153311675
NM_005055.5(RAPSN):c.193-10C>T rs2153311437
NM_005055.5(RAPSN):c.193-12C>T rs1377428703
NM_005055.5(RAPSN):c.193-15C>A rs45547231
NM_005055.5(RAPSN):c.193-16C>T rs926898280
NM_005055.5(RAPSN):c.193-17A>C rs2496132380
NM_005055.5(RAPSN):c.193-18C>T rs2496132394
NM_005055.5(RAPSN):c.193-4G>A rs2496132235
NM_005055.5(RAPSN):c.193-5_201del rs2076425356
NM_005055.5(RAPSN):c.193-8G>T rs2496132269
NM_005055.5(RAPSN):c.198T>G (p.Ala66=) rs1131389
NM_005055.5(RAPSN):c.1A>G (p.Met1Val) rs2496138853
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu) rs1565688293
NM_005055.5(RAPSN):c.210C>A (p.Ile70=) rs773975835
NM_005055.5(RAPSN):c.210del (p.Ile70fs) rs760999895
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn) rs150051760
NM_005055.5(RAPSN):c.226C>T (p.Leu76=) rs2496131780
NM_005055.5(RAPSN):c.228G>A (p.Leu76=) rs2153311384
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter) rs11556408
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn) rs1198989939
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val) rs1007398586
NM_005055.5(RAPSN):c.246C>G (p.Leu82=) rs780420252
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln) rs2076424527
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala) rs2153311355
NM_005055.5(RAPSN):c.258C>T (p.Tyr86=) rs2496131418
NM_005055.5(RAPSN):c.259C>T (p.Leu87=) rs753666562
NM_005055.5(RAPSN):c.265C>T (p.Leu89=) rs543224303
NM_005055.5(RAPSN):c.272G>A (p.Arg91His) rs375218091
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro) rs375218091
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005055.5(RAPSN):c.273C>G (p.Arg91=) rs2496131274
NM_005055.5(RAPSN):c.279C>T (p.Asn93=) rs901210204
NM_005055.5(RAPSN):c.27G>A (p.Gln9=) rs1452323802
NM_005055.5(RAPSN):c.280del (p.Glu94fs) rs2496131191
NM_005055.5(RAPSN):c.282G>A (p.Glu94=) rs2153311324
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp) rs2153311324
NM_005055.5(RAPSN):c.286C>T (p.Leu96=) rs2496131103
NM_005055.5(RAPSN):c.288del (p.Cys97fs) rs2496131085
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr) rs2153311318
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) rs749287203
NM_005055.5(RAPSN):c.294G>A (p.Glu98=) rs1331228474
NM_005055.5(RAPSN):c.297del (p.His100fs) rs2153311310
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr) rs2076433239
NM_005055.5(RAPSN):c.300_319del (p.His100fs) rs2153311290
NM_005055.5(RAPSN):c.30C>A (p.Ile10=) rs768838402
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg) rs777801296
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter) rs2076423585
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly) rs2076423375
NM_005055.5(RAPSN):c.327C>T (p.Cys109=) rs769245608
NM_005055.5(RAPSN):c.333G>T (p.Gly111=) rs2153311277
NM_005055.5(RAPSN):c.336G>A (p.Leu112=) rs747080013
NM_005055.5(RAPSN):c.339T>C (p.Pro113=) rs2496130651
NM_005055.5(RAPSN):c.345C>T (p.Thr115=) rs1353205717
NM_005055.5(RAPSN):c.354T>G (p.Gly118=) rs2496130547
NM_005055.5(RAPSN):c.357C>T (p.Ala119=) rs1595902752
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter) rs2076422949
NM_005055.5(RAPSN):c.358del (p.Gln120fs) rs2496130523
NM_005055.5(RAPSN):c.360G>A (p.Gln120=) rs780338213
NM_005055.5(RAPSN):c.363C>G (p.Leu121=) rs190548363
NM_005055.5(RAPSN):c.375C>T (p.Val125=) rs1219154180
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro) rs2153311254
NM_005055.5(RAPSN):c.39G>T (p.Gly13=) rs770689515
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile) rs2496138843
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp) rs759579462
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter) rs2153311231
NM_005055.5(RAPSN):c.423G>A (p.Lys141=) rs2153311227
NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGTTCAACTAAGCACTCTACCCTGTTCAACTAAG (p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer) rs2496129933
NM_005055.5(RAPSN):c.429G>C (p.Leu143=) rs762052702
NM_005055.5(RAPSN):c.441G>A (p.Glu147=) rs2076421885
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr) rs1198813718
NM_005055.5(RAPSN):c.447C>T (p.Ala149=) rs2153311191
NM_005055.5(RAPSN):c.450G>A (p.Leu150=) rs1275731323
NM_005055.5(RAPSN):c.452G>A (p.Arg151His)
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser) rs1595902592
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr) rs142635726
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser) rs142635726
NM_005055.5(RAPSN):c.459C>T (p.Ala153=) rs780030892
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del) rs1595902555
NM_005055.5(RAPSN):c.46dup (p.Leu16fs) rs2153311780
NM_005055.5(RAPSN):c.471T>C (p.Asp157=) rs2496129458
NM_005055.5(RAPSN):c.489C>T (p.Cys163=) rs1202436612
NM_005055.5(RAPSN):c.48G>A (p.Leu16=) rs2076432806
NM_005055.5(RAPSN):c.48G>C (p.Leu16=)
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly) rs104894294
NM_005055.5(RAPSN):c.492C>A (p.Arg164=) rs146237774
NM_005055.5(RAPSN):c.495G>A (p.Val165=) rs2496129142
NM_005055.5(RAPSN):c.495G>C (p.Val165=) rs2496129142
NM_005055.5(RAPSN):c.504C>T (p.Ser168=) rs2153311137
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser) rs2153311777
NM_005055.5(RAPSN):c.510C>G (p.Gly170=) rs1335659789
NM_005055.5(RAPSN):c.510C>T (p.Gly170=) rs1335659789
NM_005055.5(RAPSN):c.522C>T (p.Ala174=) rs2496128980
NM_005055.5(RAPSN):c.531+15C>G rs2076419769
NM_005055.5(RAPSN):c.531+17G>A rs2496128831
NM_005055.5(RAPSN):c.531+17G>C rs2496128831
NM_005055.5(RAPSN):c.531+18G>A rs2496128824
NM_005055.5(RAPSN):c.531+19G>C rs2496128814
NM_005055.5(RAPSN):c.531+1G>A rs1421354085
NM_005055.5(RAPSN):c.531+20G>A rs2496128809
NM_005055.5(RAPSN):c.531+7C>G rs2496128887
NM_005055.5(RAPSN):c.531+8T>G rs2153311112
NM_005055.5(RAPSN):c.532-17T>C rs776033390
NM_005055.5(RAPSN):c.532-19C>T rs1422983787
NM_005055.5(RAPSN):c.532-4G>A rs553983766
NM_005055.5(RAPSN):c.532-8C>T rs2496108050
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter) rs1015604630
NM_005055.5(RAPSN):c.537C>T (p.Tyr179=) rs1015604630
NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs) rs2153309143
NM_005055.5(RAPSN):c.549G>C (p.Leu183=) rs1595899529
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs) rs786200904
NM_005055.5(RAPSN):c.54G>A (p.Gln18=) rs2153311774
NM_005055.5(RAPSN):c.558C>G (p.Pro186=) rs773462623
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg) rs1219888816
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly) rs121909257
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser) rs779881502
NM_005055.5(RAPSN):c.570A>G (p.Ala190=) rs1437018541
NM_005055.5(RAPSN):c.570A>T (p.Ala190=) rs1437018541
NM_005055.5(RAPSN):c.573G>A (p.Glu191=) rs2496107722
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser) rs2076375665
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys) rs2496107488
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter) rs1595899478
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys) rs200603527
NM_005055.5(RAPSN):c.609G>A (p.Lys203=) rs2153309106
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=) rs2496107316
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile) rs752415268
NM_005055.5(RAPSN):c.630C>T (p.Tyr210=)
NM_005055.5(RAPSN):c.639C>T (p.Ala213=) rs759851936
NM_005055.5(RAPSN):c.648T>C (p.Tyr216=) rs2496106934
NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs) rs2496106871
NM_005055.5(RAPSN):c.664C>T (p.Leu222=) rs2496106749
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp) rs2153309064
NM_005055.5(RAPSN):c.66A>C (p.Thr22=) rs2496138218
NM_005055.5(RAPSN):c.66A>G (p.Thr22=) rs2496138218
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup) rs1555142799
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn) rs2496106682
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val) rs1565684828
NM_005055.5(RAPSN):c.675C>T (p.Ala225=) rs1463651202
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter) rs2153309050
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly) rs554388545
NM_005055.5(RAPSN):c.690+10C>G rs78293924
NM_005055.5(RAPSN):c.690+14G>A rs752360126
NM_005055.5(RAPSN):c.690+18G>A rs377059228
NM_005055.5(RAPSN):c.691-10del rs1296641423
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005055.5(RAPSN):c.691-16C>G rs1242282594
NM_005055.5(RAPSN):c.691-1G>A rs2076368824
NM_005055.5(RAPSN):c.691-20G>A rs1354209869
NM_005055.5(RAPSN):c.691-2_732dup rs2076367688
NM_005055.5(RAPSN):c.691-4G>A rs886048388
NM_005055.5(RAPSN):c.691-4G>T rs886048388
NM_005055.5(RAPSN):c.691-7C>A rs2153308712
NM_005055.5(RAPSN):c.691-7del rs745323819
NM_005055.5(RAPSN):c.709C>T (p.Leu237=) rs2153308690
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter) rs2076368388
NM_005055.5(RAPSN):c.714G>A (p.Gln238=) rs2153308678
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly) rs1005550058
NM_005055.5(RAPSN):c.726G>A (p.Arg242=) rs754654883
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro) rs2076367706
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter) rs2496102548
NM_005055.5(RAPSN):c.735G>A (p.Gln245=) rs2153308645
NM_005055.5(RAPSN):c.738G>T (p.Ala246=) rs889862832
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro) rs1217675127
NM_005055.5(RAPSN):c.744C>T (p.Cys248=) rs780224551
NM_005055.5(RAPSN):c.745C>T (p.Leu249=) rs2496102361
NM_005055.5(RAPSN):c.747G>C (p.Leu249=) rs1398686820
NM_005055.5(RAPSN):c.750C>T (p.Leu250=) rs2153308626
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr) rs2153308622
NM_005055.5(RAPSN):c.75A>G (p.Ala25=) rs758733129
NM_005055.5(RAPSN):c.765C>A (p.Ile255=) rs1432435738
NM_005055.5(RAPSN):c.768C>T (p.His256=) rs757302008
NM_005055.5(RAPSN):c.774C>T (p.Ser258=) rs2153308610
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly) rs150207592
NM_005055.5(RAPSN):c.783C>T (p.Asp261=) rs2076367030
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val) rs938477956
NM_005055.5(RAPSN):c.789+11C>G rs769894057
NM_005055.5(RAPSN):c.789+17G>T rs369690955
NM_005055.5(RAPSN):c.789+8C>G rs2496101917
NM_005055.5(RAPSN):c.789_789+15dup rs780882080
NM_005055.5(RAPSN):c.78G>A (p.Leu26=) rs750811979
NM_005055.5(RAPSN):c.790-12C>G rs2496101134
NM_005055.5(RAPSN):c.790-13C>T rs767831311
NM_005055.5(RAPSN):c.790-15C>A rs752816353
NM_005055.5(RAPSN):c.790-15C>G rs752816353
NM_005055.5(RAPSN):c.790-15C>T rs752816353
NM_005055.5(RAPSN):c.790-17C>T rs1159217971
NM_005055.5(RAPSN):c.790-6C>T rs2076365864
NM_005055.5(RAPSN):c.790-9G>C rs2496101120
NM_005055.5(RAPSN):c.798C>T (p.Phe266=) rs1487536762
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser) rs2496100984
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter) rs2076432332
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=) rs104894301
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu) rs1397711588
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu) rs1397711588
NM_005055.5(RAPSN):c.822C>T (p.Ser274=) rs778371396
NM_005055.5(RAPSN):c.831C>A (p.Thr277=) rs148078235
NM_005055.5(RAPSN):c.834G>A (p.Glu278=) rs2496100352
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met) rs755310896
NM_005055.5(RAPSN):c.837C>T (p.Ile279=) rs755310896
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg) rs1262674788
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter) rs1262674788
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu) rs143668632
NM_005055.5(RAPSN):c.846C>T (p.Arg282=) rs1595898465
NM_005055.5(RAPSN):c.847C>T (p.Leu283=) rs761730497
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg) rs1294627986
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter) rs1555142603
NM_005055.5(RAPSN):c.864G>T (p.Ala288=) rs147966227
NM_005055.5(RAPSN):c.865C>T (p.Leu289=) rs2153308454
NM_005055.5(RAPSN):c.867G>A (p.Leu289=) rs2496100083
NM_005055.5(RAPSN):c.868C>T (p.Leu290=) rs2496100073
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala) rs374604570
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter) rs2496099964
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter) rs2496099950
NM_005055.5(RAPSN):c.894C>T (p.Ala298=) rs2496099874
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val) rs778113748
NM_005055.5(RAPSN):c.903G>T (p.Ala301=) rs56040810
NM_005055.5(RAPSN):c.911_912+1dup rs2153308410
NM_005055.5(RAPSN):c.912+15T>C rs2076363482
NM_005055.5(RAPSN):c.912+9G>A rs751790521
NM_005055.5(RAPSN):c.912+9G>C rs751790521
NM_005055.5(RAPSN):c.912+9G>T rs751790521
NM_005055.5(RAPSN):c.912G>A (p.Lys304=) rs1273342588
NM_005055.5(RAPSN):c.913-10C>T
NM_005055.5(RAPSN):c.913-1G>C rs2496097284
NM_005055.5(RAPSN):c.913-4C>T rs2496097295
NM_005055.5(RAPSN):c.913-7del rs2496097305
NM_005055.5(RAPSN):c.913-8C>A rs2153308235
NM_005055.5(RAPSN):c.916C>T (p.Leu306=) rs1262478144
NM_005055.5(RAPSN):c.919G>C (p.Asp307His) rs1565683625
NM_005055.5(RAPSN):c.924C>T (p.Ala308=) rs1219253417
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr) rs2496097143
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val) rs369486243
NM_005055.5(RAPSN):c.948C>A (p.Ala316=) rs374676714
NM_005055.5(RAPSN):c.94del (p.Val32fs)
NM_005055.5(RAPSN):c.966+19T>C rs747980188
NM_005055.5(RAPSN):c.966+1_966+2delinsAG rs2153308170
NM_005055.5(RAPSN):c.966+7C>G rs1595898047
NM_005055.5(RAPSN):c.966+7C>T rs1595898047
NM_005055.5(RAPSN):c.967-20T>C rs2496087203
NM_005055.5(RAPSN):c.967-4C>G rs2496087083
NM_005055.5(RAPSN):c.967-5C>T rs374686678
NM_005055.5(RAPSN):c.967-6C>A rs2496087107
NM_005055.5(RAPSN):c.967-7G>A rs1374385127
NM_005055.5(RAPSN):c.967-7G>C rs1374385127
NM_005055.5(RAPSN):c.967-7G>T rs1374385127
NM_005055.5(RAPSN):c.967-9G>C rs1462206787
NM_005055.5(RAPSN):c.96G>T (p.Val32=) rs2076432156
NM_005055.5(RAPSN):c.972C>T (p.Ser324=) rs2076338821
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter) rs1217462358
NM_005055.5(RAPSN):c.975G>A (p.Gln325=) rs528431446
NM_005055.5(RAPSN):c.984G>A (p.Leu328=) rs1469910398
NM_005055.5(RAPSN):c.984G>T (p.Leu328=) rs1469910398
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg) rs2076338568
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer) rs2496086825
NM_005055.5(RAPSN):c.991C>T (p.Leu331=) rs1595896703
NM_005055.5(RAPSN):c.993G>T (p.Leu331=) rs867698000
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg) rs1013180221
NM_005055.5(RAPSN):c.996C>T (p.Ser332=) rs1013180221
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys) rs201947904
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln) rs201947904
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904
NM_005055.5(RAPSN):c.999G>A (p.Glu333=) rs1347587879
NM_005055.5(RAPSN):c.99G>A (p.Leu33=) rs2153311752

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.