ClinVar Miner

List of variants in gene RAPSN studied for congenital myasthenic syndrome 11

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 600
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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 0.11254
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.*57C>T rs45617144 0.10726
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_005055.5(RAPSN):c.*207C>A rs73459751 0.01891
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.-72C>T rs117947983 0.00803
NM_005055.5(RAPSN):c.193-14G>A rs114738594 0.00529
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00337
NM_005055.5(RAPSN):c.*211G>A rs542424704 0.00276
NM_005055.5(RAPSN):c.913-15A>G rs185204384 0.00221
NM_005055.5(RAPSN):c.960G>A (p.Gly320=) rs145357531 0.00216
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
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.1190G>A (p.Arg397Gln) rs139398367 0.00067
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00046
NM_005055.5(RAPSN):c.1166+16G>A rs377580268 0.00045
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.-23G>A rs370356548 0.00011
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=) rs139525851 0.00010
NM_005055.5(RAPSN):c.640G>A (p.Val214Met) rs201124957 0.00010
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00010
NM_005055.5(RAPSN):c.864G>A (p.Ala288=) rs147966227 0.00010
NM_005055.5(RAPSN):c.1166+13G>C rs745720985 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.1189C>T (p.Arg397Trp) rs201796294 0.00007
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.948C>T (p.Ala316=) rs374676714 0.00006
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 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.363C>T (p.Leu121=) rs190548363 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.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.140G>A (p.Gly47Asp) rs201725858 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.708G>A (p.Ala236=) rs770777539 0.00004
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr) rs771749514 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00004
NM_005055.5(RAPSN):c.*16G>A rs886048386 0.00003
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=) rs565321918 0.00003
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His) rs762532220 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.705C>T (p.Ile235=) rs562539081 0.00003
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr) rs545915312 0.00003
NM_005055.5(RAPSN):c.717C>T (p.His239=) rs576729861 0.00003
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln) rs780963721 0.00003
NM_005055.5(RAPSN):c.729A>G (p.Pro243=) rs1297914613 0.00003
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn) rs768011436 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.966+16G>A rs759757902 0.00003
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.-78G>A rs562440280 0.00002
NM_005055.5(RAPSN):c.1002C>T (p.Ser334=) rs376829572 0.00002
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=) rs763094966 0.00002
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly) rs768059942 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.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.726G>A (p.Arg242=) rs754654883 0.00002
NM_005055.5(RAPSN):c.912+20A>G rs763929869 0.00002
NM_005055.5(RAPSN):c.*80G>C rs886048385 0.00001
NM_005055.5(RAPSN):c.-113C>T rs547817383 0.00001
NM_005055.5(RAPSN):c.-121C>T rs753969285 0.00001
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His) rs768445220 0.00001
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln) rs757902272 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.1070dup (p.Glu358fs) rs1475015182 0.00001
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met) rs768394140 0.00001
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val) rs1231669536 0.00001
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=) rs150934532 0.00001
NM_005055.5(RAPSN):c.1099G>A (p.Gly367Ser) rs369104346 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.1119G>A (p.Lys373=) rs1048200516 0.00001
NM_005055.5(RAPSN):c.111G>A (p.Ser37=) rs146825957 0.00001
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=) rs1368702539 0.00001
NM_005055.5(RAPSN):c.1166+18G>A rs536788411 0.00001
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=) rs1353799875 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.1212C>T (p.Arg404=) rs2076326463 0.00001
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr) rs1486159580 0.00001
NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile) rs1272838959 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+7G>T rs767745050 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.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.33G>C (p.Glu11Asp) rs1047615316 0.00001
NM_005055.5(RAPSN):c.345C>A (p.Thr115=) rs1353205717 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.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.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.690+14G>T rs752360126 0.00001
NM_005055.5(RAPSN):c.691-5C>T rs1291023159 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.781G>A (p.Asp261Asn) rs762865029 0.00001
NM_005055.5(RAPSN):c.789+17G>A rs369690955 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.82G>T (p.Val28Leu) rs199984356 0.00001
NM_005055.5(RAPSN):c.847C>G (p.Leu283Val) rs761730497 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 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+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.927C>T (p.Ile309=) rs144813373 0.00001
NM_005055.5(RAPSN):c.957G>C (p.Val319=) rs794727796 0.00001
NM_005055.5(RAPSN):c.967-10C>T rs754320492 0.00001
NM_005055.5(RAPSN):c.985C>T (p.His329Tyr) rs772147307 0.00001
NM_005055.5(RAPSN):c.987C>T (p.His329=) rs1340342787 0.00001
GRCh37/hg19 11p11.2(chr11:47459526-47460482)
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.(?_47459516)_(47459608_?)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_005055.4(RAPSN):c.-199C>G rs886037842
NM_005055.5(RAPSN):c.-118C>A rs886048389
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys) rs549232026
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)
NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)
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.102G>C (p.Glu34Asp) rs2076432091
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=) rs778622975
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly) rs1252992478
NM_005055.5(RAPSN):c.1047T>C (p.Val349=)
NM_005055.5(RAPSN):c.1050G>A (p.Val350=)
NM_005055.5(RAPSN):c.1050G>C (p.Val350=)
NM_005055.5(RAPSN):c.1059C>T (p.His353=) rs544722226
NM_005055.5(RAPSN):c.105G>A (p.Lys35=) rs2153311746
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)
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=)
NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=) rs565321918
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs) rs786205885
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=) rs763018407
NM_005055.5(RAPSN):c.108C>T (p.Ser36=)
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=) rs778228002
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)
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>A (p.Arg376Gln) rs1241928450
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=) rs1194287140
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=) rs2076335581
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)
NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)
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)
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)
NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)
NM_005055.5(RAPSN):c.1166+10C>G
NM_005055.5(RAPSN):c.1166+10C>T
NM_005055.5(RAPSN):c.1166+13G>A
NM_005055.5(RAPSN):c.1166+13G>T
NM_005055.5(RAPSN):c.1166+14G>A
NM_005055.5(RAPSN):c.1166+14G>C
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
NM_005055.5(RAPSN):c.1166+16G>T
NM_005055.5(RAPSN):c.1166+17G>A
NM_005055.5(RAPSN):c.1166+18G>C
NM_005055.5(RAPSN):c.1166+19G>A
NM_005055.5(RAPSN):c.1166+19del rs760797252
NM_005055.5(RAPSN):c.1166+19dup
NM_005055.5(RAPSN):c.1166+1G>C
NM_005055.5(RAPSN):c.1166+1G>T
NM_005055.5(RAPSN):c.1166+2T>G
NM_005055.5(RAPSN):c.1166+7G>A
NM_005055.5(RAPSN):c.1166+7G>T rs1395269562
NM_005055.5(RAPSN):c.1167-12T>C
NM_005055.5(RAPSN):c.1167-20A>G
NM_005055.5(RAPSN):c.1167-8C>T
NM_005055.5(RAPSN):c.1167-9C>T
NM_005055.5(RAPSN):c.1168del (p.Cys390fs)
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=) rs2153306281
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg) rs768882267
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)
NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)
NM_005055.5(RAPSN):c.1185del (p.Thr396fs) rs2153306243
NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)
NM_005055.5(RAPSN):c.11dup (p.Asp4fs) rs1565689206
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)
NM_005055.5(RAPSN):c.1236A>G (p.Val412=)
NM_005055.5(RAPSN):c.123G>A (p.Gly41=)
NM_005055.5(RAPSN):c.123del (p.Arg42fs)
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
NM_005055.5(RAPSN):c.156C>A (p.Ala52=)
NM_005055.5(RAPSN):c.156C>T (p.Ala52=)
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr) rs2076431469
NM_005055.5(RAPSN):c.171C>T (p.Gly57=)
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.175T>C (p.Tyr59His) rs1555143594
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys) rs2153311689
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)
NM_005055.5(RAPSN):c.180G>A (p.Lys60=)
NM_005055.5(RAPSN):c.183G>A (p.Glu61=)
NM_005055.5(RAPSN):c.189G>A (p.Leu63=)
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
NM_005055.5(RAPSN):c.192+12del
NM_005055.5(RAPSN):c.192+13G>A
NM_005055.5(RAPSN):c.192+17T>C
NM_005055.5(RAPSN):c.192+2T>G
NM_005055.5(RAPSN):c.192+5G>T
NM_005055.5(RAPSN):c.192+7G>A
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.193-11G>A
NM_005055.5(RAPSN):c.193-12C>T
NM_005055.5(RAPSN):c.193-15C>A rs45547231
NM_005055.5(RAPSN):c.193-16C>A
NM_005055.5(RAPSN):c.193-16C>T
NM_005055.5(RAPSN):c.193-17A>C
NM_005055.5(RAPSN):c.193-18C>T
NM_005055.5(RAPSN):c.193-2A>C rs1595902947
NM_005055.5(RAPSN):c.193-4G>A
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.193-8G>T
NM_005055.5(RAPSN):c.198T>G (p.Ala66=) rs1131389
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu) rs1565688293
NM_005055.5(RAPSN):c.210C>A (p.Ile70=)
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=)
NM_005055.5(RAPSN):c.228G>A (p.Leu76=) rs2153311384
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)
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.249G>A (p.Leu83=)
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)
NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)
NM_005055.5(RAPSN):c.259C>T (p.Leu87=)
NM_005055.5(RAPSN):c.265C>T (p.Leu89=)
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=)
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.280G>A (p.Glu94Lys)
NM_005055.5(RAPSN):c.280del (p.Glu94fs)
NM_005055.5(RAPSN):c.282G>A (p.Glu94=) rs2153311324
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)
NM_005055.5(RAPSN):c.286C>T (p.Leu96=)
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
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)
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=)
NM_005055.5(RAPSN):c.336G>T (p.Leu112=) rs747080013
NM_005055.5(RAPSN):c.339T>C (p.Pro113=)
NM_005055.5(RAPSN):c.345C>T (p.Thr115=)
NM_005055.5(RAPSN):c.354T>G (p.Gly118=)
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)
NM_005055.5(RAPSN):c.360G>A (p.Gln120=)
NM_005055.5(RAPSN):c.363C>G (p.Leu121=) rs190548363
NM_005055.5(RAPSN):c.369C>T (p.Gly123=)
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) rs1479498379
NM_005055.5(RAPSN):c.375C>T (p.Val125=)
NM_005055.5(RAPSN):c.379C>T (p.Leu127=)
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)
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)
NM_005055.5(RAPSN):c.411C>T (p.Ser137=)
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)
NM_005055.5(RAPSN):c.429G>C (p.Leu143=) rs762052702
NM_005055.5(RAPSN):c.441G>A (p.Glu147=)
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=)
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=)
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.490C>G (p.Arg164Gly) rs104894294
NM_005055.5(RAPSN):c.492C>A (p.Arg164=) rs146237774
NM_005055.5(RAPSN):c.495G>A (p.Val165=)
NM_005055.5(RAPSN):c.495G>C (p.Val165=)
NM_005055.5(RAPSN):c.504C>T (p.Ser168=) rs2153311137
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)
NM_005055.5(RAPSN):c.510C>G (p.Gly170=) rs1335659789
NM_005055.5(RAPSN):c.510C>T (p.Gly170=)
NM_005055.5(RAPSN):c.522C>T (p.Ala174=)
NM_005055.5(RAPSN):c.531+15C>G
NM_005055.5(RAPSN):c.531+17G>A
NM_005055.5(RAPSN):c.531+17G>C
NM_005055.5(RAPSN):c.531+18G>A
NM_005055.5(RAPSN):c.531+19G>C
NM_005055.5(RAPSN):c.531+1G>A
NM_005055.5(RAPSN):c.531+20G>A
NM_005055.5(RAPSN):c.531+7C>G
NM_005055.5(RAPSN):c.531+8T>G rs2153311112
NM_005055.5(RAPSN):c.532-17T>C
NM_005055.5(RAPSN):c.532-19C>T
NM_005055.5(RAPSN):c.532-4G>A rs553983766
NM_005055.5(RAPSN):c.532-5T>C rs1296891027
NM_005055.5(RAPSN):c.532-8C>T
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=)
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=)
NM_005055.5(RAPSN):c.573G>A (p.Glu191=)
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser) rs2076375665
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter) rs1595899478
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
NM_005055.5(RAPSN):c.609G>A (p.Lys203=) rs2153309106
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile) rs752415268
NM_005055.5(RAPSN):c.639C>T (p.Ala213=)
NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)
NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)
NM_005055.5(RAPSN):c.664C>T (p.Leu222=)
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp) rs2153309064
NM_005055.5(RAPSN):c.669C>T (p.Gly223=) rs1168766907
NM_005055.5(RAPSN):c.66A>C (p.Thr22=)
NM_005055.5(RAPSN):c.66A>G (p.Thr22=)
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup) rs1555142799
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val) rs1565684828
NM_005055.5(RAPSN):c.675C>T (p.Ala225=)
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter) rs2153309050
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)
NM_005055.5(RAPSN):c.690+10C>G rs78293924
NM_005055.5(RAPSN):c.690+11G>A
NM_005055.5(RAPSN):c.690+14G>A
NM_005055.5(RAPSN):c.690+18G>A
NM_005055.5(RAPSN):c.691-10del
NM_005055.5(RAPSN):c.691-11C>T
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005055.5(RAPSN):c.691-16C>G
NM_005055.5(RAPSN):c.691-1G>A
NM_005055.5(RAPSN):c.691-20G>A
NM_005055.5(RAPSN):c.691-2_732dup rs2076367688
NM_005055.5(RAPSN):c.691-4G>A
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
NM_005055.5(RAPSN):c.709C>T (p.Leu237=)
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)
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro) rs2076367706
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
NM_005055.5(RAPSN):c.735G>A (p.Gln245=)
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=)
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=)
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.76T>C (p.Leu26=) rs202091676
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)
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)
NM_005055.5(RAPSN):c.784C>T (p.Leu262=)
NM_005055.5(RAPSN):c.789+11C>G
NM_005055.5(RAPSN):c.789+11C>T
NM_005055.5(RAPSN):c.789+12G>A
NM_005055.5(RAPSN):c.789+17G>T
NM_005055.5(RAPSN):c.789+8C>G
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
NM_005055.5(RAPSN):c.790-13C>T
NM_005055.5(RAPSN):c.790-15C>A
NM_005055.5(RAPSN):c.790-15C>G rs752816353
NM_005055.5(RAPSN):c.790-15C>T
NM_005055.5(RAPSN):c.790-17C>G
NM_005055.5(RAPSN):c.790-17C>T
NM_005055.5(RAPSN):c.790-19C>A
NM_005055.5(RAPSN):c.790-6C>T rs2076365864
NM_005055.5(RAPSN):c.790-9G>C
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr) rs200695559
NM_005055.5(RAPSN):c.798C>T (p.Phe266=) rs1487536762
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)
NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter) rs104894301
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=) rs104894301
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu) rs1397711588
NM_005055.5(RAPSN):c.822C>T (p.Ser274=)
NM_005055.5(RAPSN):c.825C>T (p.Ile275=)
NM_005055.5(RAPSN):c.831C>A (p.Thr277=) rs148078235
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys) rs1418635230
NM_005055.5(RAPSN):c.834G>A (p.Glu278=)
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.844C>T (p.Arg282Cys)
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=)
NM_005055.5(RAPSN):c.865C>T (p.Leu289=) rs2153308454
NM_005055.5(RAPSN):c.867G>A (p.Leu289=)
NM_005055.5(RAPSN):c.868C>T (p.Leu290=)
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala) rs374604570
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)
NM_005055.5(RAPSN):c.894C>T (p.Ala298=)
NM_005055.5(RAPSN):c.897G>A (p.Arg299=)
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
NM_005055.5(RAPSN):c.903G>T (p.Ala301=)
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
NM_005055.5(RAPSN):c.911_912+1dup rs2153308410
NM_005055.5(RAPSN):c.912+11G>A
NM_005055.5(RAPSN):c.912+15T>C
NM_005055.5(RAPSN):c.912+18C>T
NM_005055.5(RAPSN):c.912+9G>A rs751790521
NM_005055.5(RAPSN):c.912+9G>C
NM_005055.5(RAPSN):c.912+9G>T rs751790521
NM_005055.5(RAPSN):c.912G>A (p.Lys304=) rs1273342588
NM_005055.5(RAPSN):c.913-1G>C
NM_005055.5(RAPSN):c.913-4C>T
NM_005055.5(RAPSN):c.913-7del
NM_005055.5(RAPSN):c.913-8C>A rs2153308235
NM_005055.5(RAPSN):c.915T>C (p.Ala305=)
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=)
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)
NM_005055.5(RAPSN):c.948C>A (p.Ala316=) rs374676714
NM_005055.5(RAPSN):c.966+14C>G
NM_005055.5(RAPSN):c.966+19T>C
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
NM_005055.5(RAPSN):c.967-19C>G
NM_005055.5(RAPSN):c.967-20T>C
NM_005055.5(RAPSN):c.967-4C>G
NM_005055.5(RAPSN):c.967-5C>A
NM_005055.5(RAPSN):c.967-5C>T rs374686678
NM_005055.5(RAPSN):c.967-6C>A
NM_005055.5(RAPSN):c.967-7G>A
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
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)
NM_005055.5(RAPSN):c.975G>A (p.Gln325=) rs528431446
NM_005055.5(RAPSN):c.984G>A (p.Leu328=)
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)
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=)
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
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=)
NM_005055.5(RAPSN):c.99G>A (p.Leu33=) rs2153311752

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