ClinVar Miner

List of variants in gene SRCAP reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 579
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HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_006662.3(SRCAP):c.7263C>A (p.Arg2421=) rs74947321 0.01380
NM_006662.3(SRCAP):c.6495-8C>A rs75991082 0.00994
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=) rs34734612 0.00864
NM_006662.3(SRCAP):c.7571C>G (p.Ser2524Cys) rs75125670 0.00711
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly) rs117480926 0.00402
NM_006662.3(SRCAP):c.4596A>C (p.Ser1532=) rs114204931 0.00331
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) rs142948420 0.00220
NM_006662.3(SRCAP):c.132C>T (p.Gly44=) rs149628651 0.00180
NM_006662.3(SRCAP):c.5531C>G (p.Ser1844Cys) rs78037619 0.00170
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe) rs149217909 0.00130
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val) rs144657822 0.00123
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=) rs140196853 0.00105
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn) rs142242633 0.00093
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=) rs150765091 0.00074
NM_006662.3(SRCAP):c.1134+6G>C rs143387966 0.00067
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His) rs35892240 0.00064
NM_006662.3(SRCAP):c.4563T>A (p.Pro1521=) rs138541811 0.00064
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469 0.00061
NM_006662.3(SRCAP):c.307-7T>C rs201397245 0.00059
NM_006662.3(SRCAP):c.9229C>A (p.Arg3077=) rs143133981 0.00059
NM_006662.3(SRCAP):c.8363C>T (p.Pro2788Leu) rs141858791 0.00056
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala) rs143277114 0.00051
NM_006662.3(SRCAP):c.633+9T>C rs150267250 0.00046
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser) rs144476508 0.00044
NM_006662.3(SRCAP):c.5420C>T (p.Ala1807Val) rs150467782 0.00039
NM_006662.3(SRCAP):c.5598_5600del (p.Phe1867del) rs565950672 0.00039
NM_006662.3(SRCAP):c.8676T>G (p.Ala2892=) rs140675498 0.00039
NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys) rs201133838 0.00038
NM_006662.3(SRCAP):c.8911C>T (p.His2971Tyr) rs147068687 0.00037
NM_006662.3(SRCAP):c.9297C>T (p.Ser3099=) rs146224299 0.00036
NM_006662.3(SRCAP):c.9487C>G (p.Leu3163Val) rs201927170 0.00036
NM_006662.3(SRCAP):c.2572C>T (p.Arg858Cys) rs200723469 0.00035
NM_006662.3(SRCAP):c.8515G>A (p.Gly2839Ser) rs139886717 0.00034
NM_006662.3(SRCAP):c.492+11C>T rs192794742 0.00033
NM_006662.3(SRCAP):c.8397A>G (p.Pro2799=) rs201825742 0.00033
NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu) rs201670251 0.00032
NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=) rs147473528 0.00032
NM_006662.3(SRCAP):c.6501C>T (p.Ile2167=) rs202092944 0.00031
NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=) rs150187491 0.00030
NM_006662.3(SRCAP):c.8463C>T (p.Pro2821=) rs377100819 0.00030
NM_006662.3(SRCAP):c.8893C>T (p.Arg2965Trp) rs141497857 0.00030
NM_006662.3(SRCAP):c.2655C>A (p.Gly885=) rs144028938 0.00026
NM_006662.3(SRCAP):c.9253A>G (p.Met3085Val) rs369935740 0.00024
NM_006662.3(SRCAP):c.4467A>G (p.Gly1489=) rs555654281 0.00023
NM_006662.3(SRCAP):c.2883C>T (p.Asp961=) rs141067629 0.00022
NM_006662.3(SRCAP):c.6129A>G (p.Gly2043=) rs142252684 0.00021
NM_006662.3(SRCAP):c.6730-19del rs576169158 0.00021
NM_006662.3(SRCAP):c.1135-14C>T rs534965827 0.00019
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) rs139524110 0.00019
NM_006662.3(SRCAP):c.3172C>T (p.Pro1058Ser) rs145506785 0.00017
NM_006662.3(SRCAP):c.5206C>G (p.Pro1736Ala) rs199521388 0.00017
NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr) rs143103128 0.00017
NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=) rs368322185 0.00016
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr) rs368587038 0.00016
NM_006662.3(SRCAP):c.8226A>G (p.Pro2742=) rs146844239 0.00016
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg) rs146421389 0.00015
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val) rs201583296 0.00014
NM_006662.3(SRCAP):c.492+12G>A rs200528955 0.00014
NM_006662.3(SRCAP):c.7536A>C (p.Thr2512=) rs777936953 0.00014
NM_006662.3(SRCAP):c.4079C>T (p.Thr1360Ile) rs202028788 0.00013
NM_006662.3(SRCAP):c.1767A>G (p.Ala589=) rs138290515 0.00012
NM_006662.3(SRCAP):c.3176C>T (p.Pro1059Leu) rs201831987 0.00012
NM_006662.3(SRCAP):c.4621G>A (p.Val1541Met) rs201407582 0.00011
NM_006662.3(SRCAP):c.498G>A (p.Val166=) rs896096717 0.00011
NM_006662.3(SRCAP):c.6715C>T (p.His2239Tyr) rs147999557 0.00011
NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=) rs199928454 0.00011
NM_006662.3(SRCAP):c.*243C>T rs577624873 0.00010
NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=) rs1312053021 0.00009
NM_006662.3(SRCAP):c.4170C>T (p.Pro1390=) rs769774517 0.00009
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=) rs202139170 0.00009
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met) rs201837401 0.00009
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=) rs150413453 0.00009
NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=) rs200333706 0.00009
NM_006662.3(SRCAP):c.3542-5T>C rs141077295 0.00008
NM_006662.3(SRCAP):c.4002G>A (p.Pro1334=) rs141507568 0.00008
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala) rs751529827 0.00008
NM_006662.3(SRCAP):c.606C>T (p.Val202=) rs762595769 0.00008
NM_006662.3(SRCAP):c.6140C>T (p.Thr2047Met) rs144253022 0.00008
NM_006662.3(SRCAP):c.823C>T (p.Pro275Ser) rs187562954 0.00008
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=) rs556745550 0.00007
NM_006662.3(SRCAP):c.4872A>G (p.Ser1624=) rs377094082 0.00007
NM_006662.3(SRCAP):c.1614C>T (p.Ser538=) rs374756213 0.00006
NM_006662.3(SRCAP):c.3012A>G (p.Gln1004=) rs560799747 0.00006
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp) rs556230791 0.00006
NM_006662.3(SRCAP):c.4350A>T (p.Pro1450=) rs767131635 0.00006
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) rs200175704 0.00006
NM_006662.3(SRCAP):c.4940C>T (p.Pro1647Leu) rs200403976 0.00006
NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=) rs773168431 0.00006
NM_006662.3(SRCAP):c.5658+15C>T rs775744605 0.00006
NM_006662.3(SRCAP):c.5918T>C (p.Ile1973Thr) rs772327836 0.00006
NM_006662.3(SRCAP):c.67G>A (p.Gly23Ser) rs138333984 0.00006
NM_006662.3(SRCAP):c.8508T>G (p.Thr2836=) rs758398423 0.00006
NM_006662.3(SRCAP):c.2811C>T (p.Pro937=) rs774859404 0.00005
NM_006662.3(SRCAP):c.3129A>G (p.Gln1043=) rs146588466 0.00005
NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) rs200083101 0.00005
NM_006662.3(SRCAP):c.9000G>A (p.Thr3000=) rs762510712 0.00005
NM_006662.3(SRCAP):c.967C>T (p.Leu323=) rs371751004 0.00005
NM_006662.3(SRCAP):c.1350G>A (p.Gln450=) rs146916680 0.00004
NM_006662.3(SRCAP):c.2322A>G (p.Thr774=) rs770012397 0.00004
NM_006662.3(SRCAP):c.2559C>T (p.Tyr853=) rs769009513 0.00004
NM_006662.3(SRCAP):c.3453G>A (p.Thr1151=) rs752652939 0.00004
NM_006662.3(SRCAP):c.4076G>T (p.Gly1359Val) rs774055207 0.00004
NM_006662.3(SRCAP):c.4680G>A (p.Pro1560=) rs146141702 0.00004
NM_006662.3(SRCAP):c.4830G>A (p.Pro1610=) rs769654779 0.00004
NM_006662.3(SRCAP):c.4941G>A (p.Pro1647=) rs369712363 0.00004
NM_006662.3(SRCAP):c.5303T>C (p.Leu1768Pro) rs587784443 0.00004
NM_006662.3(SRCAP):c.5448A>G (p.Pro1816=) rs768345237 0.00004
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=) rs141985098 0.00004
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) rs183497403 0.00004
NM_006662.3(SRCAP):c.6925-13C>T rs777830913 0.00004
NM_006662.3(SRCAP):c.8455A>G (p.Thr2819Ala) rs779992354 0.00004
NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=) rs778040460 0.00004
NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=) rs368889629 0.00004
NM_006662.3(SRCAP):c.1446C>T (p.Pro482=) rs147749391 0.00003
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=) rs770648545 0.00003
NM_006662.3(SRCAP):c.1905G>A (p.Lys635=) rs886051900 0.00003
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) rs181190579 0.00003
NM_006662.3(SRCAP):c.4853C>T (p.Ala1618Val) rs201158872 0.00003
NM_006662.3(SRCAP):c.5300C>T (p.Thr1767Met) rs181491375 0.00003
NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=) rs1028599771 0.00003
NM_006662.3(SRCAP):c.5478G>C (p.Ser1826=) rs754115748 0.00003
NM_006662.3(SRCAP):c.55-9C>T rs766290034 0.00003
NM_006662.3(SRCAP):c.7287C>T (p.Cys2429=) rs758972811 0.00003
NM_006662.3(SRCAP):c.7523C>T (p.Pro2508Leu) rs201916514 0.00003
NM_006662.3(SRCAP):c.7647T>C (p.Pro2549=) rs780101212 0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) rs138111804 0.00003
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=) rs78465857 0.00003
NM_006662.3(SRCAP):c.1008C>T (p.Leu336=) rs372295102 0.00002
NM_006662.3(SRCAP):c.1110A>G (p.Glu370=) rs768219215 0.00002
NM_006662.3(SRCAP):c.1968G>C (p.Leu656=) rs755309089 0.00002
NM_006662.3(SRCAP):c.2244G>A (p.Ala748=) rs138153762 0.00002
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=) rs368981651 0.00002
NM_006662.3(SRCAP):c.2994G>A (p.Leu998=) rs745483557 0.00002
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=) rs765152833 0.00002
NM_006662.3(SRCAP):c.4041G>A (p.Thr1347=) rs747841580 0.00002
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) rs531238169 0.00002
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys) rs765033647 0.00002
NM_006662.3(SRCAP):c.843C>T (p.Arg281=) rs139542422 0.00002
NM_006662.3(SRCAP):c.1224G>C (p.Glu408Asp) rs557790573 0.00001
NM_006662.3(SRCAP):c.1257T>C (p.Ala419=) rs1356313610 0.00001
NM_006662.3(SRCAP):c.143C>T (p.Pro48Leu) rs1170509653 0.00001
NM_006662.3(SRCAP):c.1493-9A>G rs967636667 0.00001
NM_006662.3(SRCAP):c.1493A>T (p.Asp498Val) rs199716597 0.00001
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) rs771334638 0.00001
NM_006662.3(SRCAP):c.1619C>T (p.Ala540Val) rs746443116 0.00001
NM_006662.3(SRCAP):c.1816-10T>C rs769957391 0.00001
NM_006662.3(SRCAP):c.1824G>A (p.Thr608=) rs770822362 0.00001
NM_006662.3(SRCAP):c.2130+13A>G rs757318968 0.00001
NM_006662.3(SRCAP):c.2493+13A>G rs373123315 0.00001
NM_006662.3(SRCAP):c.2493+7C>A rs777712374 0.00001
NM_006662.3(SRCAP):c.2865C>G (p.Val955=) rs779810136 0.00001
NM_006662.3(SRCAP):c.2874T>C (p.Tyr958=) rs780479156 0.00001
NM_006662.3(SRCAP):c.2886A>T (p.Thr962=) rs747725985 0.00001
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) rs767714019 0.00001
NM_006662.3(SRCAP):c.318C>T (p.Ile106=) rs371291107 0.00001
NM_006662.3(SRCAP):c.3253+18C>G rs769640930 0.00001
NM_006662.3(SRCAP):c.3293G>C (p.Arg1098Pro) rs370202769 0.00001
NM_006662.3(SRCAP):c.3399G>A (p.Val1133=) rs1157911977 0.00001
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser) rs753700157 0.00001
NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=) rs147309641 0.00001
NM_006662.3(SRCAP):c.3537G>A (p.Leu1179=) rs1182990732 0.00001
NM_006662.3(SRCAP):c.3876G>A (p.Pro1292=) rs572583283 0.00001
NM_006662.3(SRCAP):c.492+9T>G rs372390530 0.00001
NM_006662.3(SRCAP):c.493-4A>G rs1345640704 0.00001
NM_006662.3(SRCAP):c.5385T>C (p.Val1795=) rs886051906 0.00001
NM_006662.3(SRCAP):c.5494C>T (p.Pro1832Ser) rs772086026 0.00001
NM_006662.3(SRCAP):c.55-20A>G rs1340971941 0.00001
NM_006662.3(SRCAP):c.564G>A (p.Gln188=) rs758019448 0.00001
NM_006662.3(SRCAP):c.6729+10G>A rs1474778047 0.00001
NM_006662.3(SRCAP):c.6756G>A (p.Glu2252=) rs770413957 0.00001
NM_006662.3(SRCAP):c.6891G>T (p.Arg2297=) rs1176028341 0.00001
NM_006662.3(SRCAP):c.732G>T (p.Ser244=) rs370705768 0.00001
NM_006662.3(SRCAP):c.7893C>A (p.Thr2631=) rs773623984 0.00001
NM_006662.3(SRCAP):c.7968C>T (p.Pro2656=) rs773890896 0.00001
NM_006662.3(SRCAP):c.798C>T (p.Leu266=) rs768759735 0.00001
NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu) rs587784444 0.00001
NM_006662.3(SRCAP):c.8097A>G (p.Ala2699=) rs140878775 0.00001
NM_006662.3(SRCAP):c.8451G>C (p.Leu2817=) rs541036742 0.00001
NM_006662.3(SRCAP):c.8559A>G (p.Pro2853=) rs765437444 0.00001
NM_006662.3(SRCAP):c.8700C>G (p.Thr2900=) rs370400235 0.00001
NM_006662.3(SRCAP):c.8802G>A (p.Val2934=) rs749527877 0.00001
NM_006662.3(SRCAP):c.8859C>T (p.Thr2953=) rs781692066 0.00001
NM_006662.3(SRCAP):c.9025C>A (p.Arg3009=) rs987420754 0.00001
NM_006662.3(SRCAP):c.9126G>A (p.Arg3042=) rs765830028 0.00001
NM_006662.3(SRCAP):c.9240G>A (p.Lys3080=) rs1596670383 0.00001
NM_006662.3(SRCAP):c.9357G>A (p.Ser3119=) rs762022841 0.00001
NM_006662.3(SRCAP):c.9466C>T (p.Arg3156Cys) rs777257965 0.00001
NM_006662.3(SRCAP):c.9690G>A (p.Thr3230=) rs973709922 0.00001
NM_006662.2(SRCAP):c.1493-18_1493-14delCTTGGins23
NM_006662.3(SRCAP):c.*342C>T
NM_006662.3(SRCAP):c.1056A>G (p.Gln352=)
NM_006662.3(SRCAP):c.1065A>G (p.Ser355=)
NM_006662.3(SRCAP):c.1134+16G>A
NM_006662.3(SRCAP):c.1134+8C>T
NM_006662.3(SRCAP):c.1165C>A (p.Arg389Ser) rs376370021
NM_006662.3(SRCAP):c.1185T>C (p.His395=)
NM_006662.3(SRCAP):c.1228+13C>T
NM_006662.3(SRCAP):c.1239A>G (p.Glu413=)
NM_006662.3(SRCAP):c.1278G>A (p.Glu426=) rs780939002
NM_006662.3(SRCAP):c.1313G>A (p.Arg438Gln)
NM_006662.3(SRCAP):c.1318+18T>C
NM_006662.3(SRCAP):c.1319-6T>C
NM_006662.3(SRCAP):c.1347G>A (p.Gln449=)
NM_006662.3(SRCAP):c.1356A>G (p.Ala452=) rs2151288339
NM_006662.3(SRCAP):c.1362C>T (p.Ala454=)
NM_006662.3(SRCAP):c.1410T>C (p.Val470=)
NM_006662.3(SRCAP):c.144G>A (p.Pro48=)
NM_006662.3(SRCAP):c.1454C>T (p.Ala485Val)
NM_006662.3(SRCAP):c.1455G>A (p.Ala485=)
NM_006662.3(SRCAP):c.1479T>C (p.Ser493=)
NM_006662.3(SRCAP):c.1492+31G>A
NM_006662.3(SRCAP):c.1493-14G>A
NM_006662.3(SRCAP):c.1493-8C>A rs184337406
NM_006662.3(SRCAP):c.1493-8C>T rs184337406
NM_006662.3(SRCAP):c.1509G>C (p.Arg503=) rs2151288471
NM_006662.3(SRCAP):c.152T>C (p.Ile51Thr)
NM_006662.3(SRCAP):c.1531C>T (p.His511Tyr)
NM_006662.3(SRCAP):c.1566A>G (p.Ala522=)
NM_006662.3(SRCAP):c.1589A>G (p.Glu530Gly)
NM_006662.3(SRCAP):c.1608A>G (p.Ser536=)
NM_006662.3(SRCAP):c.1677A>G (p.Glu559=)
NM_006662.3(SRCAP):c.168A>C (p.Ser56=) rs1596640527
NM_006662.3(SRCAP):c.169C>T (p.Leu57=)
NM_006662.3(SRCAP):c.1704T>C (p.Ser568=)
NM_006662.3(SRCAP):c.1746A>G (p.Lys582=) rs2151288573
NM_006662.3(SRCAP):c.1752T>C (p.Ile584=) rs766917767
NM_006662.3(SRCAP):c.1770A>T (p.Ala590=) rs759174701
NM_006662.3(SRCAP):c.1816-11C>T
NM_006662.3(SRCAP):c.1816-17T>C
NM_006662.3(SRCAP):c.1827C>T (p.Pro609=)
NM_006662.3(SRCAP):c.1866G>A (p.Gln622=) rs1596647807
NM_006662.3(SRCAP):c.1878A>G (p.Leu626=) rs1596647814
NM_006662.3(SRCAP):c.189C>A (p.Pro63=) rs79656879
NM_006662.3(SRCAP):c.18C>T (p.Ser6=)
NM_006662.3(SRCAP):c.1968G>T (p.Leu656=)
NM_006662.3(SRCAP):c.1992A>G (p.Lys664=)
NM_006662.3(SRCAP):c.1993+14G>T
NM_006662.3(SRCAP):c.1994-7C>T
NM_006662.3(SRCAP):c.2043C>T (p.Asn681=)
NM_006662.3(SRCAP):c.2064G>C (p.Arg688=)
NM_006662.3(SRCAP):c.2088C>G (p.Leu696=)
NM_006662.3(SRCAP):c.2130+8G>T
NM_006662.3(SRCAP):c.2131-16_2131-13del
NM_006662.3(SRCAP):c.2184G>T (p.Val728=)
NM_006662.3(SRCAP):c.2196C>T (p.His732=)
NM_006662.3(SRCAP):c.2253C>T (p.Ile751=)
NM_006662.3(SRCAP):c.2300+10dup rs557150142
NM_006662.3(SRCAP):c.2301-12G>A rs1417656272
NM_006662.3(SRCAP):c.2301-16_2301-13del
NM_006662.3(SRCAP):c.2362T>C (p.Leu788=)
NM_006662.3(SRCAP):c.2409C>T (p.Phe803=)
NM_006662.3(SRCAP):c.241G>C (p.Asp81His)
NM_006662.3(SRCAP):c.2469A>G (p.Glu823=)
NM_006662.3(SRCAP):c.2472T>G (p.Gly824=)
NM_006662.3(SRCAP):c.2595A>G (p.Gln865=)
NM_006662.3(SRCAP):c.2630+16G>C
NM_006662.3(SRCAP):c.2630+18dup
NM_006662.3(SRCAP):c.2630+9G>A
NM_006662.3(SRCAP):c.2631-13C>G
NM_006662.3(SRCAP):c.2667C>T (p.Ser889=)
NM_006662.3(SRCAP):c.2721C>T (p.Phe907=)
NM_006662.3(SRCAP):c.2743C>T (p.Pro915Ser) rs752848452
NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro) rs756223991
NM_006662.3(SRCAP):c.2775C>T (p.Thr925=)
NM_006662.3(SRCAP):c.2778C>G (p.Ala926=)
NM_006662.3(SRCAP):c.2799G>A (p.Thr933=)
NM_006662.3(SRCAP):c.2817+7A>G
NM_006662.3(SRCAP):c.2818-14C>T
NM_006662.3(SRCAP):c.282C>T (p.Ala94=)
NM_006662.3(SRCAP):c.2851C>T (p.Leu951=) rs2052996888
NM_006662.3(SRCAP):c.2861G>A (p.Arg954His)
NM_006662.3(SRCAP):c.2877G>A (p.Glu959=)
NM_006662.3(SRCAP):c.2946C>T (p.Asp982=)
NM_006662.3(SRCAP):c.294A>G (p.Glu98=)
NM_006662.3(SRCAP):c.2958G>T (p.Arg986=)
NM_006662.3(SRCAP):c.2988-18C>T
NM_006662.3(SRCAP):c.2992C>T (p.Leu998=)
NM_006662.3(SRCAP):c.3033G>A (p.Val1011=) rs2151292640
NM_006662.3(SRCAP):c.303G>A (p.Lys101=)
NM_006662.3(SRCAP):c.3057G>T (p.Leu1019=)
NM_006662.3(SRCAP):c.3063T>A (p.Pro1021=)
NM_006662.3(SRCAP):c.3096C>G (p.Leu1032=)
NM_006662.3(SRCAP):c.3124C>T (p.Pro1042Ser)
NM_006662.3(SRCAP):c.312C>T (p.Ala104=)
NM_006662.3(SRCAP):c.3135G>A (p.Leu1045=)
NM_006662.3(SRCAP):c.3144A>C (p.Ser1048=)
NM_006662.3(SRCAP):c.3177G>A (p.Pro1059=)
NM_006662.3(SRCAP):c.3189A>G (p.Ala1063=)
NM_006662.3(SRCAP):c.3195G>A (p.Arg1065=)
NM_006662.3(SRCAP):c.3243T>C (p.Ser1081=)
NM_006662.3(SRCAP):c.3247C>T (p.Pro1083Ser)
NM_006662.3(SRCAP):c.3249C>A (p.Pro1083=) rs1377055797
NM_006662.3(SRCAP):c.3249C>G (p.Pro1083=)
NM_006662.3(SRCAP):c.3254-6C>G
NM_006662.3(SRCAP):c.3261A>T (p.Pro1087=)
NM_006662.3(SRCAP):c.3285G>C (p.Gly1095=)
NM_006662.3(SRCAP):c.3351C>T (p.Ser1117=)
NM_006662.3(SRCAP):c.33G>A (p.Gln11=)
NM_006662.3(SRCAP):c.3441T>C (p.Thr1147=)
NM_006662.3(SRCAP):c.3519C>A (p.Pro1173=)
NM_006662.3(SRCAP):c.3541+8C>A
NM_006662.3(SRCAP):c.3542-34G>T
NM_006662.3(SRCAP):c.3561C>T (p.Ile1187=)
NM_006662.3(SRCAP):c.3678T>A (p.Leu1226=)
NM_006662.3(SRCAP):c.3687G>A (p.Gly1229=) rs1775800611
NM_006662.3(SRCAP):c.3707-14_3707-13del rs2151293412
NM_006662.3(SRCAP):c.3707-19C>A
NM_006662.3(SRCAP):c.3711T>C (p.Asn1237=)
NM_006662.3(SRCAP):c.3717G>A (p.Val1239=) rs2151293426
NM_006662.3(SRCAP):c.3732A>G (p.Ala1244=)
NM_006662.3(SRCAP):c.3735G>C (p.Gly1245=)
NM_006662.3(SRCAP):c.3786C>T (p.Ala1262=)
NM_006662.3(SRCAP):c.3795G>A (p.Pro1265=)
NM_006662.3(SRCAP):c.3798C>A (p.Thr1266=) rs2151293473
NM_006662.3(SRCAP):c.3804C>T (p.Gly1268=)
NM_006662.3(SRCAP):c.3813T>C (p.Pro1271=)
NM_006662.3(SRCAP):c.3834G>C (p.Ser1278=)
NM_006662.3(SRCAP):c.384A>G (p.Pro128=)
NM_006662.3(SRCAP):c.3864C>T (p.Gly1288=)
NM_006662.3(SRCAP):c.3892+19C>G
NM_006662.3(SRCAP):c.3893-9C>T
NM_006662.3(SRCAP):c.3897A>G (p.Pro1299=)
NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly) rs372507463
NM_006662.3(SRCAP):c.4159+15C>T
NM_006662.3(SRCAP):c.4160-15C>T
NM_006662.3(SRCAP):c.4167C>A (p.Ala1389=)
NM_006662.3(SRCAP):c.4203C>G (p.Leu1401=)
NM_006662.3(SRCAP):c.4206C>T (p.His1402=)
NM_006662.3(SRCAP):c.4230A>G (p.Pro1410=) rs1596655648
NM_006662.3(SRCAP):c.423C>T (p.Cys141=)
NM_006662.3(SRCAP):c.4260C>G (p.Ser1420=)
NM_006662.3(SRCAP):c.4291G>A (p.Val1431Ile)
NM_006662.3(SRCAP):c.4326T>C (p.Ser1442=)
NM_006662.3(SRCAP):c.4341T>G (p.Leu1447=) rs2151294011
NM_006662.3(SRCAP):c.435G>A (p.Gln145=)
NM_006662.3(SRCAP):c.4377C>T (p.Ile1459=)
NM_006662.3(SRCAP):c.4401T>A (p.Ala1467=)
NM_006662.3(SRCAP):c.4404G>T (p.Ser1468=)
NM_006662.3(SRCAP):c.4413T>C (p.Ala1471=)
NM_006662.3(SRCAP):c.4417T>C (p.Leu1473=)
NM_006662.3(SRCAP):c.441C>T (p.Leu147=)
NM_006662.3(SRCAP):c.4422C>G (p.Thr1474=)
NM_006662.3(SRCAP):c.4488T>C (p.Ser1496=)
NM_006662.3(SRCAP):c.4536T>C (p.Ala1512=)
NM_006662.3(SRCAP):c.4578G>A (p.Leu1526=)
NM_006662.3(SRCAP):c.45A>G (p.Leu15=)
NM_006662.3(SRCAP):c.4614C>T (p.Asn1538=)
NM_006662.3(SRCAP):c.4659G>A (p.Ser1553=)
NM_006662.3(SRCAP):c.4737A>C (p.Ala1579=) rs779909225
NM_006662.3(SRCAP):c.4864C>T (p.Leu1622=)
NM_006662.3(SRCAP):c.4884G>A (p.Pro1628=)
NM_006662.3(SRCAP):c.4905G>A (p.Ser1635=)
NM_006662.3(SRCAP):c.4912C>G (p.Pro1638Ala) rs2151294374
NM_006662.3(SRCAP):c.492+11C>A
NM_006662.3(SRCAP):c.492+15G>A rs2151286294
NM_006662.3(SRCAP):c.4954A>G (p.Thr1652Ala)
NM_006662.3(SRCAP):c.4971A>G (p.Pro1657=) rs1338277721
NM_006662.3(SRCAP):c.5001G>A (p.Pro1667=) rs753715138
NM_006662.3(SRCAP):c.5007G>A (p.Pro1669=)
NM_006662.3(SRCAP):c.5018C>T (p.Pro1673Leu)
NM_006662.3(SRCAP):c.5020A>C (p.Ser1674Arg)
NM_006662.3(SRCAP):c.5025G>A (p.Pro1675=)
NM_006662.3(SRCAP):c.5046C>G (p.Ala1682=)
NM_006662.3(SRCAP):c.5112G>A (p.Thr1704=)
NM_006662.3(SRCAP):c.5151A>G (p.Ser1717=) rs1596656674
NM_006662.3(SRCAP):c.5169C>T (p.Ser1723=)
NM_006662.3(SRCAP):c.519C>T (p.His173=)
NM_006662.3(SRCAP):c.5218C>T (p.Leu1740=)
NM_006662.3(SRCAP):c.5235G>T (p.Thr1745=)
NM_006662.3(SRCAP):c.5253_5270dup (p.Pro1752_Ala1757dup) rs779055260
NM_006662.3(SRCAP):c.5256C>T (p.Pro1752=)
NM_006662.3(SRCAP):c.5257C>G (p.Pro1753Ala) rs141977752
NM_006662.3(SRCAP):c.5292A>G (p.Pro1764=)
NM_006662.3(SRCAP):c.5337C>T (p.Leu1779=)
NM_006662.3(SRCAP):c.5343C>T (p.Ala1781=) rs886038572
NM_006662.3(SRCAP):c.5394G>A (p.Leu1798=)
NM_006662.3(SRCAP):c.5397C>T (p.Gly1799=)
NM_006662.3(SRCAP):c.54+17A>T
NM_006662.3(SRCAP):c.5400G>A (p.Pro1800=)
NM_006662.3(SRCAP):c.5415C>G (p.Thr1805=)
NM_006662.3(SRCAP):c.5454C>T (p.Ser1818=)
NM_006662.3(SRCAP):c.5460A>T (p.Ala1820=)
NM_006662.3(SRCAP):c.546G>C (p.Arg182=)
NM_006662.3(SRCAP):c.5490C>T (p.Ala1830=)
NM_006662.3(SRCAP):c.5491G>A (p.Ala1831Thr)
NM_006662.3(SRCAP):c.55-12C>T
NM_006662.3(SRCAP):c.55-14T>G
NM_006662.3(SRCAP):c.5550A>G (p.Thr1850=)
NM_006662.3(SRCAP):c.5561G>A (p.Arg1854His)
NM_006662.3(SRCAP):c.5574C>T (p.Pro1858=)
NM_006662.3(SRCAP):c.5583C>T (p.Pro1861=) rs2053050152
NM_006662.3(SRCAP):c.558G>A (p.Glu186=) rs970267721
NM_006662.3(SRCAP):c.5598G>A (p.Ser1866=)
NM_006662.3(SRCAP):c.5631C>A (p.Pro1877=)
NM_006662.3(SRCAP):c.5631C>T (p.Pro1877=)
NM_006662.3(SRCAP):c.5634A>C (p.Pro1878=)
NM_006662.3(SRCAP):c.5640T>A (p.Pro1880=)
NM_006662.3(SRCAP):c.5658+14C>T
NM_006662.3(SRCAP):c.5658+15del rs2151294724
NM_006662.3(SRCAP):c.5658+18_5658+19del
NM_006662.3(SRCAP):c.5659-15T>C
NM_006662.3(SRCAP):c.5659-4C>G rs1247635318
NM_006662.3(SRCAP):c.5659-5C>T
NM_006662.3(SRCAP):c.5690G>A (p.Arg1897Gln)
NM_006662.3(SRCAP):c.5708G>A (p.Arg1903Gln)
NM_006662.3(SRCAP):c.5715C>T (p.Phe1905=)
NM_006662.3(SRCAP):c.5718A>G (p.Gln1906=)
NM_006662.3(SRCAP):c.5751G>T (p.Val1917=)
NM_006662.3(SRCAP):c.5787C>G (p.Pro1929=)
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=) rs1276291921
NM_006662.3(SRCAP):c.5870G>A (p.Arg1957Gln)
NM_006662.3(SRCAP):c.5877A>G (p.Val1959=)
NM_006662.3(SRCAP):c.588C>T (p.Ser196=)
NM_006662.3(SRCAP):c.5924+16T>G
NM_006662.3(SRCAP):c.5961C>T (p.Pro1987=)
NM_006662.3(SRCAP):c.5986C>T (p.Pro1996Ser)
NM_006662.3(SRCAP):c.6006T>A (p.Arg2002=)
NM_006662.3(SRCAP):c.6024G>A (p.Glu2008=)
NM_006662.3(SRCAP):c.6063G>A (p.Leu2021=)
NM_006662.3(SRCAP):c.6066C>T (p.His2022=)
NM_006662.3(SRCAP):c.6082A>G (p.Met2028Val)
NM_006662.3(SRCAP):c.6127+15C>T
NM_006662.3(SRCAP):c.6127+165G>A
NM_006662.3(SRCAP):c.6127+9G>A rs777647637
NM_006662.3(SRCAP):c.6127+9G>T rs777647637
NM_006662.3(SRCAP):c.6128-124T>C
NM_006662.3(SRCAP):c.6141G>A (p.Thr2047=)
NM_006662.3(SRCAP):c.6151C>T (p.Leu2051=) rs2151298227
NM_006662.3(SRCAP):c.6165C>G (p.Leu2055=)
NM_006662.3(SRCAP):c.6285T>A (p.Val2095=)
NM_006662.3(SRCAP):c.6297+17C>T
NM_006662.3(SRCAP):c.6298-13C>G
NM_006662.3(SRCAP):c.6298-20T>A
NM_006662.3(SRCAP):c.6298-6T>G
NM_006662.3(SRCAP):c.634-20C>A
NM_006662.3(SRCAP):c.634-9C>T
NM_006662.3(SRCAP):c.63G>A (p.Ser21=)
NM_006662.3(SRCAP):c.6423T>C (p.Asn2141=) rs1596664196
NM_006662.3(SRCAP):c.6438T>C (p.Ala2146=)
NM_006662.3(SRCAP):c.6494+18C>T
NM_006662.3(SRCAP):c.6494+7C>T
NM_006662.3(SRCAP):c.6495-10C>A rs1270339802
NM_006662.3(SRCAP):c.6495-19G>A
NM_006662.3(SRCAP):c.6495-5C>G rs189024516
NM_006662.3(SRCAP):c.6495-5C>T rs189024516
NM_006662.3(SRCAP):c.6495-7C>A
NM_006662.3(SRCAP):c.6525C>T (p.Asn2175=)
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=) rs886044120
NM_006662.3(SRCAP):c.6609+15C>A
NM_006662.3(SRCAP):c.6610-14G>A
NM_006662.3(SRCAP):c.6610-17T>C
NM_006662.3(SRCAP):c.6610-18C>G
NM_006662.3(SRCAP):c.6610-6C>T
NM_006662.3(SRCAP):c.6610-7C>G
NM_006662.3(SRCAP):c.6663C>T (p.Ser2221=) rs755312139
NM_006662.3(SRCAP):c.66C>T (p.Asp22=)
NM_006662.3(SRCAP):c.6730-8C>G
NM_006662.3(SRCAP):c.6768A>C (p.Ala2256=)
NM_006662.3(SRCAP):c.6780C>G (p.Ala2260=)
NM_006662.3(SRCAP):c.6816T>C (p.Asn2272=)
NM_006662.3(SRCAP):c.6888C>T (p.Ser2296=)
NM_006662.3(SRCAP):c.6915C>T (p.Leu2305=) rs915038749
NM_006662.3(SRCAP):c.6925-19C>G
NM_006662.3(SRCAP):c.6972G>A (p.Leu2324=)
NM_006662.3(SRCAP):c.6993G>A (p.Glu2331=)
NM_006662.3(SRCAP):c.7008+11C>G
NM_006662.3(SRCAP):c.7009-12C>G
NM_006662.3(SRCAP):c.7009-13C>A
NM_006662.3(SRCAP):c.7009-14C>A rs771141103
NM_006662.3(SRCAP):c.7026C>T (p.Ala2342=)
NM_006662.3(SRCAP):c.7066C>T (p.Leu2356=)
NM_006662.3(SRCAP):c.7092G>C (p.Pro2364=)
NM_006662.3(SRCAP):c.7114T>C (p.Cys2372Arg) rs572129697
NM_006662.3(SRCAP):c.7125T>A (p.Gly2375=)
NM_006662.3(SRCAP):c.7131C>T (p.Gly2377=)
NM_006662.3(SRCAP):c.7133C>T (p.Thr2378Ile)
NM_006662.3(SRCAP):c.7176G>C (p.Gly2392=)
NM_006662.3(SRCAP):c.7188T>C (p.Ser2396=)
NM_006662.3(SRCAP):c.7221A>G (p.Gln2407=) rs779526189
NM_006662.3(SRCAP):c.7242C>T (p.Val2414=)
NM_006662.3(SRCAP):c.7268C>T (p.Thr2423Ile) rs2053170273
NM_006662.3(SRCAP):c.7286G>A (p.Cys2429Tyr)
NM_006662.3(SRCAP):c.7311C>T (p.Pro2437=)
NM_006662.3(SRCAP):c.7314G>A (p.Arg2438=)
NM_006662.3(SRCAP):c.7353G>A (p.Pro2451=)
NM_006662.3(SRCAP):c.7460C>G (p.Pro2487Arg)
NM_006662.3(SRCAP):c.7460C>T (p.Pro2487Leu)
NM_006662.3(SRCAP):c.7481G>C (p.Cys2494Ser)
NM_006662.3(SRCAP):c.7484C>G (p.Ser2495Cys)
NM_006662.3(SRCAP):c.7494C>T (p.Ala2498=)
NM_006662.3(SRCAP):c.7515T>C (p.Cys2505=)
NM_006662.3(SRCAP):c.7539G>A (p.Pro2513=)
NM_006662.3(SRCAP):c.7544C>T (p.Pro2515Leu)
NM_006662.3(SRCAP):c.7572C>G (p.Ser2524=) rs769282513
NM_006662.3(SRCAP):c.7584G>A (p.Leu2528=)
NM_006662.3(SRCAP):c.7596T>G (p.Pro2532=)
NM_006662.3(SRCAP):c.7614C>T (p.Ala2538=)
NM_006662.3(SRCAP):c.768C>G (p.Thr256=)
NM_006662.3(SRCAP):c.768C>T (p.Thr256=)
NM_006662.3(SRCAP):c.7695G>A (p.Glu2565=)
NM_006662.3(SRCAP):c.7696C>T (p.Leu2566=)
NM_006662.3(SRCAP):c.7765G>A (p.Ala2589Thr)
NM_006662.3(SRCAP):c.780A>G (p.Ala260=)
NM_006662.3(SRCAP):c.7830C>T (p.Thr2610=) rs751674138
NM_006662.3(SRCAP):c.7831T>C (p.Leu2611=) rs1596668407
NM_006662.3(SRCAP):c.7854T>C (p.Asn2618=)
NM_006662.3(SRCAP):c.7870G>A (p.Ala2624Thr)
NM_006662.3(SRCAP):c.789C>A (p.Ser263=) rs2151287407
NM_006662.3(SRCAP):c.7929C>G (p.Pro2643=)
NM_006662.3(SRCAP):c.7929C>T (p.Pro2643=)
NM_006662.3(SRCAP):c.7954C>T (p.Leu2652=)
NM_006662.3(SRCAP):c.7981G>A (p.Asp2661Asn)
NM_006662.3(SRCAP):c.8040C>T (p.Ala2680=)
NM_006662.3(SRCAP):c.8074G>C (p.Glu2692Gln)
NM_006662.3(SRCAP):c.8103A>G (p.Pro2701=)
NM_006662.3(SRCAP):c.8130G>A (p.Ser2710=)
NM_006662.3(SRCAP):c.8145A>G (p.Ser2715=)
NM_006662.3(SRCAP):c.8209C>A (p.Arg2737=)
NM_006662.3(SRCAP):c.8262G>A (p.Leu2754=) rs2151300619
NM_006662.3(SRCAP):c.8265A>T (p.Val2755=)
NM_006662.3(SRCAP):c.8287C>T (p.Leu2763=) rs1567254267
NM_006662.3(SRCAP):c.8305_8313dup (p.Gln2769_Arg2771dup) rs542757742
NM_006662.3(SRCAP):c.8313G>A (p.Arg2771=)
NM_006662.3(SRCAP):c.8329C>T (p.Leu2777=)
NM_006662.3(SRCAP):c.833C>G (p.Pro278Arg)
NM_006662.3(SRCAP):c.8372C>T (p.Pro2791Leu)
NM_006662.3(SRCAP):c.846G>C (p.Leu282=)
NM_006662.3(SRCAP):c.8472C>G (p.Pro2824=) rs1259771574
NM_006662.3(SRCAP):c.8482C>T (p.Arg2828Cys) rs144623507
NM_006662.3(SRCAP):c.8523C>T (p.Pro2841=)
NM_006662.3(SRCAP):c.8547C>T (p.Leu2849=) rs1485729553
NM_006662.3(SRCAP):c.856+20C>G
NM_006662.3(SRCAP):c.8568G>A (p.Val2856=)
NM_006662.3(SRCAP):c.857-4A>G
NM_006662.3(SRCAP):c.857-4A>T rs774278541
NM_006662.3(SRCAP):c.8589C>G (p.Pro2863=)
NM_006662.3(SRCAP):c.8598G>A (p.Lys2866=)
NM_006662.3(SRCAP):c.861G>A (p.Gly287=) rs1596645552
NM_006662.3(SRCAP):c.8640A>T (p.Ala2880=)
NM_006662.3(SRCAP):c.8694T>G (p.Pro2898=) rs1596669583
NM_006662.3(SRCAP):c.8701C>T (p.Leu2901=)
NM_006662.3(SRCAP):c.8769A>G (p.Pro2923=)
NM_006662.3(SRCAP):c.8787C>T (p.Pro2929=)
NM_006662.3(SRCAP):c.87T>C (p.Pro29=) rs1596640438
NM_006662.3(SRCAP):c.8811_8812delinsGC (p.Arg2937_Arg2938=) rs2151301002
NM_006662.3(SRCAP):c.8907C>G (p.Pro2969=) rs886051907
NM_006662.3(SRCAP):c.8937A>G (p.Pro2979=)
NM_006662.3(SRCAP):c.8975CTGTCACCA[1] (p.2992TVT[1]) rs559460451
NM_006662.3(SRCAP):c.8982C>T (p.Thr2994=)
NM_006662.3(SRCAP):c.9003C>G (p.Ser3001=)
NM_006662.3(SRCAP):c.9021G>A (p.Arg3007=)
NM_006662.3(SRCAP):c.9072C>T (p.Val3024=) rs1596670103
NM_006662.3(SRCAP):c.9099C>T (p.Leu3033=)
NM_006662.3(SRCAP):c.9123A>G (p.Arg3041=)
NM_006662.3(SRCAP):c.9234A>G (p.Gly3078=)
NM_006662.3(SRCAP):c.9246A>C (p.Gly3082=)
NM_006662.3(SRCAP):c.924A>G (p.Gln308=)
NM_006662.3(SRCAP):c.9390A>G (p.Pro3130=)
NM_006662.3(SRCAP):c.9447T>C (p.Pro3149=)
NM_006662.3(SRCAP):c.9462G>A (p.Arg3154=)
NM_006662.3(SRCAP):c.9471A>G (p.Leu3157=)
NM_006662.3(SRCAP):c.9477C>G (p.Pro3159=)
NM_006662.3(SRCAP):c.9487C>T (p.Leu3163=)
NM_006662.3(SRCAP):c.9531A>C (p.Ser3177=) rs763783084
NM_006662.3(SRCAP):c.9552T>C (p.Asp3184=)
NM_006662.3(SRCAP):c.9573T>G (p.Pro3191=)
NM_006662.3(SRCAP):c.9576C>A (p.Gly3192=)
NM_006662.3(SRCAP):c.9645C>T (p.Ser3215=) rs1349056203
NM_006662.3(SRCAP):c.977G>T (p.Arg326Leu)
NM_006662.3(SRCAP):c.993A>C (p.Pro331=)

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