ClinVar Miner

List of variants studied for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7050
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059 0.99999
NM_001370259.2(MEN1):c.1299T>C (p.His433=) rs540012 0.97595
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NC_000021.9:g.44285777T>C rs751032 0.90117
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala) rs2959656 0.89377
NC_000003.12:g.122183002G>A rs6776158 0.61708
NM_001001433.3(STX16):c.*1785A>G rs6128397 0.60588
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_000315.4(PTH):c.-5-10G>A rs694 0.50325
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_001001433.3(STX16):c.*2057G>A rs7683 0.42733
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_000383.4(AIRE):c.1096-288G>A rs933150 0.30258
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_001001433.3(STX16):c.*1928C>T rs11578 0.24059
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_004752.4(GCM2):c.-44T>C rs16870746 0.17796
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
NM_000315.4(PTH):c.247C>A (p.Arg83=) rs6256 0.12676
NM_000388.4(CASR):c.1732+16T>C rs2270916 0.11379
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_001001433.3(STX16):c.*183G>T rs1052642 0.10193
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_000388.4(CASR):c.3031= (p.Glu1011=) rs1801726 0.08251
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_001001433.3(STX16):c.*2365A>T rs189786439 0.05203
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_001001433.3(STX16):c.-350C>A rs41296205 0.04872
NM_001001433.2(STX16):c.-744T>C rs6026428 0.03911
NM_000315.4(PTH):c.*319A>G rs16912873 0.03789
NM_001001433.3(STX16):c.*1581G>C rs73302110 0.03645
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) rs41276950 0.03442
NM_004752.4(GCM2):c.607G>A (p.Gly203Ser) rs7744163 0.03045
NM_004752.4(GCM2):c.462G>A (p.Lys154=) rs61734276 0.03037
NM_001370259.2(MEN1):c.435C>T (p.Ser145=) rs61736636 0.02784
NM_001001433.3(STX16):c.*2060T>C rs115404291 0.02468
NM_001370259.2(MEN1):c.1299= (p.His433=) rs540012 0.02405
NM_001001433.3(STX16):c.*70G>A rs114597931 0.02300
NM_001001433.3(STX16):c.*1997A>G rs78816069 0.02027
NM_004752.4(GCM2):c.897T>C (p.Pro299=) rs73440491 0.01873
NM_001370259.2(MEN1):c.-23-14G>C rs886048479 0.01869
NM_024529.5(CDC73):c.*1267A>G rs78218016 0.01764
NM_004752.4(GCM2):c.*634C>T rs76143708 0.01709
NM_001370259.2(MEN1):c.*302C>T rs1804849 0.01607
NM_000383.4(AIRE):c.1096-9G>C rs113512196 0.01593
NM_001001433.3(STX16):c.*2080G>A rs111631847 0.01560
NM_000315.4(PTH):c.276G>A (p.Glu92=) rs76760723 0.01524
NM_000315.4(PTH):c.86+9T>G rs75277526 0.01524
NM_018646.6(TRPV6):c.1092C>T (p.Tyr364=) rs4987663 0.01482
NM_001001433.3(STX16):c.*1899C>T rs138678203 0.01442
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln) rs114786310 0.01421
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_004752.4(GCM2):c.1060A>G (p.Met354Val) rs61734278 0.01292
NM_024529.5(CDC73):c.*580A>T rs191600804 0.01264
NM_000383.4(AIRE):c.652+14C>T rs41277546 0.01242
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_024529.5(CDC73):c.*2950A>G rs144681513 0.01153
NM_024529.5(CDC73):c.*3507G>T rs151216299 0.01140
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_001001433.3(STX16):c.*2543G>C rs75424783 0.01014
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_001001433.3(STX16):c.*1863C>A rs141875151 0.00929
NM_004752.4(GCM2):c.844T>G (p.Tyr282Asp) rs61734277 0.00874
NM_001370259.2(MEN1):c.*307T>G rs1804848 0.00855
NM_000383.4(AIRE):c.1279-18C>T rs72650678 0.00839
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_004752.4(GCM2):c.903C>T (p.Asp301=) rs77910271 0.00552
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_001001433.3(STX16):c.557-7G>C rs41276952 0.00517
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_000383.4(AIRE):c.1401-11C>T rs371136111 0.00444
NM_080425.4(GNAS):c.1221C>G (p.Thr407=) rs200430001 0.00433
NM_024529.5(CDC73):c.*2304T>G rs144363422 0.00424
NM_001001433.3(STX16):c.*3194C>T rs142088857 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_001001433.3(STX16):c.*2183G>A rs147429412 0.00329
NM_001001433.3(STX16):c.*2199C>T rs139818778 0.00317
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_000383.4(AIRE):c.1400+10C>T rs372277949 0.00304
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392 0.00268
NM_004752.4(GCM2):c.943A>G (p.Asn315Asp) rs114070356 0.00258
NM_024529.5(CDC73):c.308-16C>A rs201766013 0.00252
NM_001001433.3(STX16):c.-355C>T rs141733765 0.00250
NM_004752.4(GCM2):c.157G>A (p.Asp53Asn) rs11963186 0.00245
NM_000383.4(AIRE):c.1507G>A (p.Asp503Asn) rs145370269 0.00241
NM_004752.4(GCM2):c.168G>C (p.Lys56Asn) rs11963184 0.00230
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_024529.5(CDC73):c.*2085G>C rs150030810 0.00217
NM_000383.4(AIRE):c.880-18G>A rs139659079 0.00213
NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu) rs142366324 0.00212
NM_001001433.3(STX16):c.*1797C>G rs148109645 0.00211
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_004752.4(GCM2):c.*643A>T rs149605763 0.00205
NM_024529.5(CDC73):c.*3419T>A rs566373225 0.00205
NM_001370259.2(MEN1):c.-24+84C>G rs568093485 0.00202
NM_024529.5(CDC73):c.*12C>A rs193025205 0.00196
NM_024529.5(CDC73):c.*518A>G rs190433473 0.00195
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp) rs41265203 0.00192
NM_080425.4(GNAS):c.484A>G (p.Met162Val) rs138731520 0.00192
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_001001433.3(STX16):c.*2293G>A rs185815575 0.00170
NM_001001433.3(STX16):c.*2885C>T rs188362833 0.00170
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_004752.4(GCM2):c.344-7T>C rs184620420 0.00161
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001370259.2(MEN1):c.-20G>A rs386134244 0.00158
NM_001001433.3(STX16):c.132+15G>A rs139859128 0.00147
NM_024529.5(CDC73):c.*1365T>C rs180929933 0.00143
NM_004752.4(GCM2):c.306G>A (p.Arg102=) rs149143032 0.00142
NM_001370259.2(MEN1):c.*185C>T rs111895237 0.00133
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_001001433.3(STX16):c.-534C>G rs190719996 0.00128
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_024529.5(CDC73):c.*1472T>G rs576716003 0.00117
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030 0.00115
NM_024529.5(CDC73):c.*2446C>T rs572307472 0.00114
NM_000383.4(AIRE):c.510A>G (p.Ala170=) rs146992760 0.00113
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190 0.00110
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001001433.3(STX16):c.*1790A>T rs145827696 0.00102
NM_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000383.4(AIRE):c.789C>T (p.Gly263=) rs138066507 0.00099
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_001001433.3(STX16):c.-63T>C rs181473720 0.00098
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) rs138647604 0.00098
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) rs150951102 0.00094
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562 0.00092
NM_002067.5(GNA11):c.705C>T (p.Tyr235=) rs138168314 0.00091
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676 0.00078
NM_024529.5(CDC73):c.*1132G>T rs1017988008 0.00078
NM_024529.5(CDC73):c.*3266A>G rs532839308 0.00075
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_016592.5(GNAS):c.537G>A (p.Pro179=) rs181594534 0.00072
NM_000315.4(PTH):c.*51A>G rs369469373 0.00071
NM_024529.5(CDC73):c.*3524A>G rs548190260 0.00071
NM_001001433.3(STX16):c.*1886T>C rs150647186 0.00070
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178 0.00069
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) rs79212994 0.00068
NM_000383.4(AIRE):c.1383C>T (p.Ala461=) rs147485628 0.00066
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060 0.00066
NM_004752.4(GCM2):c.156C>T (p.Ser52=) rs147096473 0.00066
NM_002067.5(GNA11):c.885C>T (p.Phe295=) rs147368872 0.00065
NM_000388.4(CASR):c.906C>T (p.Ser302=) rs201067850 0.00063
NM_000388.4(CASR):c.*923T>C rs201230484 0.00061
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000383.4(AIRE):c.1503+16G>A rs565087801 0.00058
NM_024529.5(CDC73):c.-11G>A rs80356643 0.00056
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_001001433.3(STX16):c.*114C>T rs191638951 0.00054
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_001370259.2(MEN1):c.*272T>C rs563783609 0.00051
NM_001001433.3(STX16):c.*1488A>C rs565168524 0.00050
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_001001433.3(STX16):c.585G>A (p.Gln195=) rs147137636 0.00048
NM_001370259.2(MEN1):c.*470A>G rs778272737 0.00048
NM_001370259.2(MEN1):c.1049+9C>T rs200517349 0.00048
NM_000383.4(AIRE):c.1567-18C>T rs372108131 0.00047
NM_024529.5(CDC73):c.513-17A>C rs202192473 0.00046
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_004752.4(GCM2):c.319G>A (p.Asp107Asn) rs61741855 0.00043
NM_024529.5(CDC73):c.*453A>C rs547363180 0.00042
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 0.00041
NM_000383.4(AIRE):c.1279-19G>A rs369136366 0.00039
NM_000388.4(CASR):c.*1201C>T rs886057837 0.00039
NM_001370259.2(MEN1):c.18C>T (p.Ala6=) rs369348210 0.00039
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_001001433.3(STX16):c.594C>T (p.Phe198=) rs146333716 0.00037
NM_000383.4(AIRE):c.599C>T (p.Pro200Leu) rs140196414 0.00036
NM_024529.5(CDC73):c.*1761T>C rs528066706 0.00036
NM_024529.5(CDC73):c.873C>T (p.Asn291=) rs149400412 0.00036
NM_000315.4(PTH):c.*55C>T rs780806029 0.00035
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 0.00035
NM_000388.4(CASR):c.1491C>T (p.Ser497=) rs150337940 0.00035
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_001001433.3(STX16):c.-550G>A rs148071494 0.00034
NM_000383.4(AIRE):c.457A>G (p.Ser153Gly) rs200377867 0.00032
NM_000383.4(AIRE):c.1303G>A (p.Gly435Arg) rs373993732 0.00031
NM_001001433.3(STX16):c.442C>T (p.Arg148Trp) rs141068956 0.00031
NM_000383.4(AIRE):c.133-11C>A rs372109674 0.00029
NM_024529.5(CDC73):c.*1787A>G rs747621423 0.00029
NM_000383.4(AIRE):c.982C>T (p.Arg328Trp) rs74162063 0.00028
NM_001001433.3(STX16):c.*3110G>T rs148669648 0.00028
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204 0.00027
NM_001001433.3(STX16):c.*1049G>A rs559176715 0.00027
NM_080425.4(GNAS):c.1395A>C (p.Pro465=) rs56213454 0.00027
NM_000383.4(AIRE):c.996-7C>T rs568895777 0.00026
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274 0.00026
NM_004752.4(GCM2):c.*217T>A rs866777825 0.00026
NM_004752.4(GCM2):c.*746A>G rs886060975 0.00026
NM_004752.4(GCM2):c.186C>T (p.Ser62=) rs141006427 0.00026
NM_000383.4(AIRE):c.307+13G>A rs371890744 0.00025
NM_000383.4(AIRE):c.507C>T (p.Ser169=) rs566659101 0.00025
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119 0.00024
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088 0.00024
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946 0.00024
NM_000383.4(AIRE):c.793G>A (p.Ala265Thr) rs140835367 0.00024
NM_024529.5(CDC73):c.*1644C>T rs764317616 0.00024
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00024
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389 0.00023
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_004752.4(GCM2):c.1395C>T (p.His465=) rs139538731 0.00023
NM_024529.5(CDC73):c.1066+13A>G rs142414871 0.00023
NM_000383.4(AIRE):c.589G>A (p.Gly197Arg) rs148012328 0.00022
NM_000383.4(AIRE):c.912C>T (p.Asp304=) rs149769247 0.00022
NM_000516.7(GNAS):c.312+17T>C rs78999525 0.00022
NM_001001433.3(STX16):c.*2137C>T rs886056861 0.00022
NM_024529.5(CDC73):c.*3791T>C rs886045739 0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys) rs527488103 0.00022
NM_000388.4(CASR):c.2237C>T (p.Ala746Val) rs139417576 0.00021
NM_001001433.3(STX16):c.*1186C>T rs933579094 0.00021
NM_004064.5(CDKN1B):c.-80C>T rs551236750 0.00021
NM_004752.4(GCM2):c.*639C>T rs551025129 0.00021
NM_000383.4(AIRE):c.169C>G (p.Gln57Glu) rs200955183 0.00020
NM_000383.4(AIRE):c.996-18T>C rs78245838 0.00020
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_001370259.2(MEN1):c.*794G>A rs117705251 0.00020
NM_024529.5(CDC73):c.424-16C>T rs201012067 0.00020
NM_000383.4(AIRE):c.538+7G>A rs575144370 0.00019
NM_001001433.3(STX16):c.360T>C (p.His120=) rs148962992 0.00018
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_024529.5(CDC73):c.*1833A>G rs150894778 0.00018
NM_000383.4(AIRE):c.1244A>G (p.His415Arg) rs149609996 0.00017
NM_000383.4(AIRE):c.538+6C>T rs371847563 0.00017
NM_000388.4(CASR):c.*1169C>T rs200652347 0.00017
NM_000388.4(CASR):c.*1193C>T rs886057835 0.00017
NM_000388.4(CASR):c.*1197C>G rs886057836 0.00017
NM_000516.7(GNAS):c.530+11G>A rs74474807 0.00017
NM_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037 0.00017
NM_004752.4(GCM2):c.1342A>G (p.Met448Val) rs147168542 0.00017
NM_004752.4(GCM2):c.180C>T (p.His60=) rs150244671 0.00017
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000383.4(AIRE):c.180C>T (p.His60=) rs201591958 0.00016
NM_000383.4(AIRE):c.748A>T (p.Ser250Cys) rs141480813 0.00016
NM_000383.4(AIRE):c.908G>A (p.Arg303Gln) rs139808903 0.00016
NM_000388.4(CASR):c.27C>T (p.Val9=) rs141880581 0.00016
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_000516.7(GNAS):c.312+36C>T rs200066108 0.00016
NM_001001433.3(STX16):c.*1223A>G rs879449362 0.00016
NM_001001433.3(STX16):c.*1652G>A rs186800651 0.00016
NM_001001433.3(STX16):c.*56T>C rs886056849 0.00016
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_024529.5(CDC73):c.-143G>C rs778446879 0.00016
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg) rs553396434 0.00015
NM_000383.4(AIRE):c.594C>T (p.Asp198=) rs376083924 0.00015
NM_000383.4(AIRE):c.600G>A (p.Pro200=) rs754331960 0.00015
NM_000383.4(AIRE):c.936C>T (p.Asp312=) rs147889221 0.00015
NM_000388.4(CASR):c.757C>A (p.Gln253Lys) rs202179597 0.00015
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_004752.4(GCM2):c.90+12G>C rs772701925 0.00015
NM_000383.4(AIRE):c.1095+11G>A rs541854967 0.00014
NM_000383.4(AIRE):c.1104G>A (p.Pro368=) rs377079396 0.00014
NM_000383.4(AIRE):c.1477G>A (p.Ala493Thr) rs561652010 0.00014
NM_000383.4(AIRE):c.1567-17G>A rs376402964 0.00014
NM_000383.4(AIRE):c.538G>A (p.Gly180Arg) rs200899780 0.00014
NM_000383.4(AIRE):c.880-7G>A rs141955483 0.00014
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_000388.4(CASR):c.546T>A (p.Ser182=) rs200545177 0.00014
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp) rs188308261 0.00014
NM_001370259.2(MEN1):c.1351-4C>T rs764408631 0.00014
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn) rs774296730 0.00014
NM_002067.5(GNA11):c.570C>T (p.Ile190=) rs201668624 0.00014
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_000244.4(MEN1):c.-47A>G rs1035192873 0.00013
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147 0.00013
NM_000516.7(GNAS):c.1038+17_1038+20del rs773644530 0.00013
NM_000516.7(GNAS):c.213-11C>T rs369370389 0.00013
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_004752.4(GCM2):c.*649T>C rs886060977 0.00013
NM_024529.5(CDC73):c.*2427T>C rs372585994 0.00013
NM_024529.5(CDC73):c.*683G>A rs905879297 0.00013
NM_000383.4(AIRE):c.560C>T (p.Ser187Leu) rs143952576 0.00012
NM_000388.4(CASR):c.2388G>A (p.Lys796=) rs200701164 0.00012
NM_000388.4(CASR):c.2585T>C (p.Phe862Ser) rs201328344 0.00012
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_001370259.2(MEN1):c.-23-135G>A rs587777949 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_002067.5(GNA11):c.501C>T (p.Ile167=) rs756722832 0.00012
NM_024529.5(CDC73):c.*1985T>A rs886045726 0.00012
NM_024529.5(CDC73):c.840G>A (p.Leu280=) rs10921320 0.00012
NM_000383.4(AIRE):c.1158C>T (p.Ala386=) rs199555518 0.00011
NM_000383.4(AIRE):c.1200G>A (p.Pro400=) rs377627680 0.00011
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu) rs368331265 0.00011
NM_000383.4(AIRE):c.1236G>A (p.Ser412=) rs373985995 0.00011
NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln) rs139835427 0.00011
NM_000383.4(AIRE):c.354C>G (p.Val118=) rs528667089 0.00011
NM_000383.4(AIRE):c.372G>A (p.Pro124=) rs775117249 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000383.4(AIRE):c.825G>C (p.Gln275His) rs1027582142 0.00011
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_001001433.3(STX16):c.*2152G>A rs1027698811 0.00011
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_002067.5(GNA11):c.476+13G>A rs371755659 0.00011
NM_004752.4(GCM2):c.*607A>G rs771232878 0.00011
NM_024529.5(CDC73):c.1316+15A>C rs372909512 0.00011
NM_024529.5(CDC73):c.371-4A>G rs374021222 0.00011
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417 0.00010
NM_000383.4(AIRE):c.927C>G (p.Ile309Met) rs74162062 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_001001433.3(STX16):c.*2016G>T rs779563360 0.00010
NM_001001433.3(STX16):c.*648A>C rs980469101 0.00010
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=) rs368783097 0.00010
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_024529.5(CDC73):c.*2420A>C rs536960020 0.00010
NM_024529.5(CDC73):c.*2677G>A rs192018514 0.00010
NM_024529.5(CDC73):c.-30C>T rs770313192 0.00010
NM_024529.5(CDC73):c.1066+10T>C rs376113810 0.00010
NM_024529.5(CDC73):c.684G>A (p.Glu228=) rs368708158 0.00010
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000383.4(AIRE):c.132+18C>T rs535317267 0.00009
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262 0.00009
NM_000383.4(AIRE):c.485C>T (p.Pro162Leu) rs138949170 0.00009
NM_000383.4(AIRE):c.520C>T (p.Arg174Cys) rs752687905 0.00009
NM_000383.4(AIRE):c.615C>T (p.Ala205=) rs143784684 0.00009
NM_000388.4(CASR):c.-137C>T rs201074178 0.00009
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590 0.00009
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000388.4(CASR):c.1788C>T (p.Thr596=) rs142778221 0.00009
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr) rs201449422 0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=) rs140586950 0.00009
NM_001001433.3(STX16):c.*2095C>T rs577869699 0.00009
NM_001001433.3(STX16):c.*952C>A rs886056854 0.00009
NM_001001433.3(STX16):c.-160G>A rs368572667 0.00009
NM_001001433.3(STX16):c.716A>G (p.Glu239Gly) rs202102691 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_002067.5(GNA11):c.240C>T (p.Tyr80=) rs145033220 0.00009
NM_004752.4(GCM2):c.*50G>A rs746217594 0.00009
NM_024529.4(CDC73):c.-190G>C rs886045709 0.00009
NM_024529.5(CDC73):c.*1499T>A rs138503809 0.00009
NM_000383.4(AIRE):c.1203_1278+28del rs1568929576 0.00008
NM_000383.4(AIRE):c.653-16C>T rs368374287 0.00008
NM_000383.4(AIRE):c.659C>T (p.Ser220Phe) rs753236604 0.00008
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_001370259.2(MEN1):c.*438C>T rs886048474 0.00008
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00008
NM_002067.5(GNA11):c.889+14C>T rs369371015 0.00008
NM_024529.5(CDC73):c.1154+18C>G rs145348897 0.00008
NM_024529.5(CDC73):c.876A>G (p.Arg292=) rs909578765 0.00008
NM_080425.4(GNAS):c.1422C>T (p.Pro474=) rs532475771 0.00008
NM_080425.4(GNAS):c.538C>T (p.Gln180Ter) rs200910410 0.00008
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro) rs376517306 0.00008
NM_000383.4(AIRE):c.1094C>T (p.Pro365Leu) rs374475349 0.00007
NM_000383.4(AIRE):c.1095+10C>T rs372932833 0.00007
NM_000383.4(AIRE):c.1323G>A (p.Thr441=) rs201945690 0.00007
NM_000383.4(AIRE):c.137C>T (p.Thr46Met) rs758870962 0.00007
NM_000383.4(AIRE):c.564C>G (p.Val188=) rs201650973 0.00007
NM_000383.4(AIRE):c.652+15G>A rs760027964 0.00007
NM_000383.4(AIRE):c.652+7G>A rs373277723 0.00007
NM_000388.4(CASR):c.2356A>G (p.Ile786Val) rs371882068 0.00007
NM_000388.4(CASR):c.2991C>T (p.Ser997=) rs142305357 0.00007
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000388.4(CASR):c.825T>C (p.Asp275=) rs199836910 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val) rs778728934 0.00007
NM_001370259.2(MEN1):c.1692G>T (p.Leu564=) rs367581776 0.00007
NM_001370259.2(MEN1):c.685C>T (p.Arg229Cys) rs754378887 0.00007
NM_002067.5(GNA11):c.489C>T (p.Asp163=) rs141926949 0.00007
NM_004752.4(GCM2):c.1063G>A (p.Ala355Thr) rs764488668 0.00007
NM_024529.5(CDC73):c.*2625A>G rs531872328 0.00007
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.648T>A (p.Ala216=) rs143149579 0.00007
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_000383.4(AIRE):c.1103C>T (p.Pro368Leu) rs552129156 0.00006
NM_000383.4(AIRE):c.1168A>G (p.Thr390Ala) rs771790456 0.00006
NM_000383.4(AIRE):c.1169C>T (p.Thr390Met) rs201491251 0.00006
NM_000383.4(AIRE):c.1326C>T (p.Asp442=) rs750033525 0.00006
NM_000383.4(AIRE):c.1527C>T (p.Pro509=) rs746856788 0.00006
NM_000383.4(AIRE):c.608G>A (p.Arg203Gln) rs200359179 0.00006
NM_000383.4(AIRE):c.718G>A (p.Gly240Ser) rs142286875 0.00006
NM_000383.4(AIRE):c.756G>A (p.Pro252=) rs765738882 0.00006
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_000383.4(AIRE):c.819G>C (p.Leu273=) rs756188438 0.00006
NM_000388.4(CASR):c.-111C>A rs201098532 0.00006
NM_000388.4(CASR):c.1044C>A (p.Ala348=) rs753606065 0.00006
NM_000388.4(CASR):c.1554A>G (p.Gly518=) rs138099808 0.00006
NM_000388.4(CASR):c.1596G>T (p.Gly532=) rs774666667 0.00006
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) rs200318708 0.00006
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg) rs150979829 0.00006
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg) rs1060502848 0.00006
NM_000388.4(CASR):c.762T>C (p.His254=) rs76438850 0.00006
NM_000516.7(GNAS):c.357G>A (p.Leu119=) rs368741499 0.00006
NM_001001433.3(STX16):c.*173C>G rs765639298 0.00006
NM_001001433.3(STX16):c.*2499C>T rs886056866 0.00006
NM_001001433.3(STX16):c.*3093A>G rs886056869 0.00006
NM_001001433.3(STX16):c.-25A>C rs368579447 0.00006
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=) rs371364206 0.00006
NM_001370259.2(MEN1):c.1546C>G (p.Arg516Gly) rs763160290 0.00006
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=) rs373669288 0.00006
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys) rs773500082 0.00006
NM_001370259.2(MEN1):c.825-11T>C rs375364751 0.00006
NM_002067.5(GNA11):c.605+10G>A rs535105766 0.00006
NM_004752.4(GCM2):c.1144G>A (p.Val382Met) rs371918069 0.00006
NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys) rs750624044 0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080 0.00006
NM_024529.5(CDC73):c.*1083A>T rs367704451 0.00006
NM_024529.5(CDC73):c.*1599A>G rs543573271 0.00006
NM_024529.5(CDC73):c.*2801A>G rs999015399 0.00006
NM_024529.5(CDC73):c.*2962T>C rs147904515 0.00006
NM_024529.5(CDC73):c.*948C>T rs761544591 0.00006
NM_024529.5(CDC73):c.1066+8T>C rs80356647 0.00006
NM_024529.5(CDC73):c.333C>T (p.Ser111=) rs374834265 0.00006
NM_024529.5(CDC73):c.879C>T (p.Tyr293=) rs199551585 0.00006
NM_000383.4(AIRE):c.1048C>T (p.Pro350Ser) rs554591629 0.00005
NM_000383.4(AIRE):c.1107G>T (p.Gly369=) rs767432975 0.00005
NM_000383.4(AIRE):c.1367G>A (p.Arg456His) rs554954634 0.00005
NM_000383.4(AIRE):c.1422C>T (p.Ser474=) rs760924817 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_000383.4(AIRE):c.464-14G>T rs569160989 0.00005
NM_000388.4(CASR):c.*251G>C rs904222689 0.00005
NM_000388.4(CASR):c.1638C>T (p.Cys546=) rs143047343 0.00005
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529 0.00005
NM_000388.4(CASR):c.2070C>G (p.Leu690=) rs1015701331 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000516.7(GNAS):c.1039-4G>A rs575570315 0.00005
NM_000516.7(GNAS):c.576G>T (p.Pro192=) rs558915293 0.00005
NM_001001433.3(STX16):c.*17G>A rs766728803 0.00005
NM_001001433.3(STX16):c.*2276G>C rs886086537 0.00005
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=) rs760183888 0.00005
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) rs199706698 0.00005
NM_002067.5(GNA11):c.287C>T (p.Thr96Met) rs756991534 0.00005
NM_002067.5(GNA11):c.322-5C>T rs773020890 0.00005
NM_004752.4(GCM2):c.*588A>G rs575580806 0.00005
NM_004752.4(GCM2):c.91-7C>T rs549670381 0.00005
NM_024529.5(CDC73):c.*1251A>G rs550417983 0.00005
NM_024529.5(CDC73):c.1031-5C>T rs746118697 0.00005
NM_024529.5(CDC73):c.1150C>T (p.Leu384=) rs377215814 0.00005
NM_024529.5(CDC73):c.1559+7C>A rs542111225 0.00005
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr) rs552813440 0.00005
NM_000383.4(AIRE):c.1081C>T (p.Pro361Ser) rs1267538837 0.00004
NM_000383.4(AIRE):c.1279-8T>G rs374358283 0.00004
NM_000383.4(AIRE):c.1348G>A (p.Ala450Thr) rs758446796 0.00004
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356 0.00004
NM_000383.4(AIRE):c.1403C>T (p.Thr468Met) rs775349581 0.00004
NM_000383.4(AIRE):c.1458G>A (p.Gly486=) rs774298250 0.00004
NM_000383.4(AIRE):c.1503+10G>A rs1319625944 0.00004
NM_000383.4(AIRE):c.166C>T (p.Pro56Ser) rs753460287 0.00004
NM_000383.4(AIRE):c.328C>T (p.Arg110Trp) rs764029559 0.00004
NM_000383.4(AIRE):c.347C>T (p.Pro116Leu) rs151049459 0.00004
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488 0.00004
NM_000383.4(AIRE):c.352G>A (p.Val118Ile) rs370599883 0.00004
NM_000383.4(AIRE):c.488C>A (p.Pro163His) rs771592755 0.00004
NM_000383.4(AIRE):c.531C>T (p.Leu177=) rs538568691 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000383.4(AIRE):c.655G>A (p.Gly219Ser) rs139620961 0.00004
NM_000383.4(AIRE):c.73G>C (p.Ala25Pro) rs761025044 0.00004
NM_000383.4(AIRE):c.740G>A (p.Arg247His) rs763487370 0.00004
NM_000383.4(AIRE):c.947G>A (p.Arg316Gln) rs202027254 0.00004
NM_000388.4(CASR):c.1378-20C>T rs199644797 0.00004
NM_000388.4(CASR):c.1529A>G (p.Tyr510Cys) rs372504955 0.00004
NM_000388.4(CASR):c.1549A>G (p.Lys517Glu) rs768663095 0.00004
NM_000388.4(CASR):c.1732+11C>A rs1032023222 0.00004
NM_000388.4(CASR):c.1733-13G>C rs568934388 0.00004
NM_000388.4(CASR):c.1827G>A (p.Thr609=) rs200868156 0.00004
NM_000388.4(CASR):c.186-19C>T rs372080345 0.00004
NM_000388.4(CASR):c.1913G>A (p.Arg638His) rs201852643 0.00004
NM_000388.4(CASR):c.1974G>T (p.Leu658=) rs770178952 0.00004
NM_000388.4(CASR):c.2769A>G (p.Pro923=) rs199508670 0.00004
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115 0.00004
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000388.4(CASR):c.453G>A (p.Thr151=) rs201849172 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000388.4(CASR):c.705C>A (p.Ile235=) rs199887150 0.00004
NM_000388.4(CASR):c.867G>A (p.Thr289=) rs368612147 0.00004
NM_000516.7(GNAS):c.684C>T (p.Arg228=) rs147984566 0.00004
NM_000516.7(GNAS):c.936T>C (p.Phe312=) rs764458531 0.00004
NM_001001433.3(STX16):c.*1160G>A rs886056855 0.00004
NM_001001433.3(STX16):c.*1378A>T rs750137163 0.00004
NM_001001433.3(STX16):c.*2138G>A rs535827417 0.00004
NM_001001433.3(STX16):c.*441C>G rs886056852 0.00004
NM_001001433.3(STX16):c.-409G>A rs886056844 0.00004
NM_001001433.3(STX16):c.-421C>G rs557592494 0.00004
NM_001001433.3(STX16):c.394-7C>T rs533111939 0.00004
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp) rs149383809 0.00004
NM_001370259.2(MEN1):c.1386C>A (p.Ala462=) rs771827808 0.00004
NM_001370259.2(MEN1):c.1401C>T (p.Ala467=) rs878855190 0.00004
NM_001370259.2(MEN1):c.1416C>T (p.Gly472=) rs764509990 0.00004
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=) rs200280309 0.00004
NM_001370259.2(MEN1):c.1518C>T (p.Thr506=) rs749265222 0.00004
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843 0.00004
NM_001370259.2(MEN1):c.1640A>G (p.Glu547Gly) rs914488914 0.00004
NM_001370259.2(MEN1):c.1800G>T (p.Leu600=) rs148825200 0.00004
NM_001370259.2(MEN1):c.375A>T (p.Ile125=) rs184896922 0.00004
NM_001370259.2(MEN1):c.531G>A (p.Leu177=) rs146568011 0.00004
NM_001370259.2(MEN1):c.642T>C (p.Gly214=) rs931878410 0.00004
NM_001370259.2(MEN1):c.753C>T (p.Thr251=) rs763326062 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_001370259.2(MEN1):c.784-10C>T rs71526470 0.00004
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln) rs771645621 0.00004
NM_002067.5(GNA11):c.889+4C>T rs375701661 0.00004
NM_002067.5(GNA11):c.912G>A (p.Ala304=) rs145170690 0.00004
NM_002067.5(GNA11):c.915G>A (p.Ala305=) rs750757769 0.00004
NM_004752.4(GCM2):c.1364G>A (p.Arg455Gln) rs145103332 0.00004
NM_004752.4(GCM2):c.318C>T (p.Cys106=) rs749600723 0.00004
NM_004752.4(GCM2):c.344-12T>C rs377314144 0.00004
NM_004752.4(GCM2):c.345G>A (p.Lys115=) rs1040019354 0.00004
NM_004752.4(GCM2):c.457-10G>A rs369032326 0.00004
NM_004752.4(GCM2):c.687G>A (p.Gly229=) rs755090999 0.00004
NM_024529.5(CDC73):c.*1074A>T rs886045718 0.00004
NM_024529.5(CDC73):c.*1092A>G rs886045720 0.00004
NM_024529.5(CDC73):c.*2455C>T rs886045729 0.00004
NM_024529.5(CDC73):c.1154+20A>C rs567786660 0.00004
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024529.5(CDC73):c.762A>G (p.Gln254=) rs141847473 0.00004
NM_024529.5(CDC73):c.908-5C>T rs200475944 0.00004
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn) rs201342585 0.00004
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000315.4(PTH):c.69G>A (p.Ser23=) rs377308600 0.00003
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile) rs929430876 0.00003
NM_000383.4(AIRE):c.132+16G>A rs1272044102 0.00003
NM_000383.4(AIRE):c.1327G>A (p.Val443Met) rs557522986 0.00003
NM_000383.4(AIRE):c.1347C>T (p.Cys449=) rs367619299 0.00003
NM_000383.4(AIRE):c.1400+7G>C rs781592443 0.00003
NM_000383.4(AIRE):c.1481G>A (p.Arg494His) rs528762050 0.00003
NM_000383.4(AIRE):c.1563C>T (p.Ser521=) rs746873146 0.00003
NM_000383.4(AIRE):c.1620G>A (p.Ala540=) rs372219460 0.00003
NM_000383.4(AIRE):c.30T>C (p.Leu10=) rs1024577400 0.00003
NM_000383.4(AIRE):c.464-6A>G rs773945988 0.00003
NM_000383.4(AIRE):c.57G>A (p.Ala19=) rs761739665 0.00003
NM_000383.4(AIRE):c.799-18C>T rs752494949 0.00003
NM_000383.4(AIRE):c.799-4G>A rs1359244532 0.00003
NM_000383.4(AIRE):c.872T>C (p.Leu291Pro) rs767272852 0.00003
NM_000383.4(AIRE):c.979C>A (p.Leu327Ile) rs1029648118 0.00003
NM_000388.4(CASR):c.*103A>C rs199899073 0.00003
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp) rs760506005 0.00003
NM_000388.4(CASR):c.1143C>T (p.Gly381=) rs374835228 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1326G>A (p.Gly442=) rs1266818477 0.00003
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile) rs267599574 0.00003
NM_000388.4(CASR):c.1445G>A (p.Cys482Tyr) rs761468327 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.1479C>T (p.Asn493=) rs201076546 0.00003
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271 0.00003
NM_000388.4(CASR):c.1733-4A>G rs911114845 0.00003
NM_000388.4(CASR):c.1943G>T (p.Arg648Leu) rs757736220 0.00003
NM_000388.4(CASR):c.2082C>T (p.Cys694=) rs1389988414 0.00003
NM_000388.4(CASR):c.2104G>A (p.Val702Ile) rs201828974 0.00003
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp) rs201366240 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269 0.00003
NM_000388.4(CASR):c.2717C>T (p.Thr906Met) rs200357435 0.00003
NM_000388.4(CASR):c.2919C>T (p.Val973=) rs201569701 0.00003
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) rs1007139212 0.00003
NM_000388.4(CASR):c.3148T>C (p.Leu1050=) rs1201397873 0.00003
NM_000388.4(CASR):c.3193A>G (p.Ser1065Gly) rs185453682 0.00003
NM_000388.4(CASR):c.493-19T>G rs201735609 0.00003
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) rs762998933 0.00003
NM_000388.4(CASR):c.787A>G (p.Thr263Ala) rs1161925579 0.00003
NM_000516.7(GNAS):c.1131C>T (p.Asn377=) rs140075370 0.00003
NM_000516.7(GNAS):c.660-19C>T rs370723643 0.00003
NM_001001433.3(STX16):c.*1746C>T rs886056858 0.00003
NM_001001433.3(STX16):c.*1898A>G rs886056860 0.00003
NM_001001433.3(STX16):c.*2475T>C rs886056864 0.00003
NM_001001433.3(STX16):c.-693G>A rs149351460 0.00003
NM_001370259.2(MEN1):c.*693T>C rs1229690026 0.00003
NM_001370259.2(MEN1):c.1071C>T (p.Asp357=) rs371964966 0.00003
NM_001370259.2(MEN1):c.1074G>A (p.Glu358=) rs776834299 0.00003
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp) rs566593066 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001370259.2(MEN1):c.1479G>A (p.Pro493=) rs546721780 0.00003
NM_001370259.2(MEN1):c.1552C>T (p.Pro518Ser) rs1204943413 0.00003
NM_001370259.2(MEN1):c.1740G>C (p.Thr580=) rs1114167530 0.00003
NM_001370259.2(MEN1):c.215C>A (p.Pro72His) rs878856863 0.00003
NM_001370259.2(MEN1):c.315C>G (p.Leu105=) rs1238374960 0.00003
NM_001370259.2(MEN1):c.471G>A (p.Val157=) rs878855194 0.00003
NM_001370259.2(MEN1):c.474C>T (p.Ala158=) rs772526802 0.00003
NM_001370259.2(MEN1):c.525C>T (p.Leu175=) rs200155578 0.00003
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser) rs587780844 0.00003
NM_001370259.2(MEN1):c.754G>T (p.Asp252Tyr) rs770368608 0.00003
NM_001370259.2(MEN1):c.759G>A (p.Ser253=) rs201829546 0.00003
NM_001370259.2(MEN1):c.760C>T (p.Leu254=) rs1194394888 0.00003
NM_001370259.2(MEN1):c.808C>T (p.Leu270=) rs371556177 0.00003
NM_001370259.2(MEN1):c.912+10T>C rs1565645317 0.00003
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser) rs773089218 0.00003
NM_002067.5(GNA11):c.462C>T (p.Ser154=) rs200449144 0.00003
NM_002067.5(GNA11):c.889+7C>T rs201814380 0.00003
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) rs1281361203 0.00003
NM_018646.6(TRPV6):c.978_979del (p.Gly327_Asp328insTer) rs1342435095 0.00003
NM_024529.5(CDC73):c.*2963A>G rs886045731 0.00003
NM_024529.5(CDC73):c.*2982T>C rs886045732 0.00003
NM_024529.5(CDC73):c.*463A>G rs879039427 0.00003
NM_024529.5(CDC73):c.1031-10T>C rs370349805 0.00003
NM_024529.5(CDC73):c.1067-8C>T rs780485546 0.00003
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.1417+9C>T rs769784756 0.00003
NM_024529.5(CDC73):c.1418-10C>G rs768713729 0.00003
NM_024529.5(CDC73):c.1418-4A>G rs1269877061 0.00003
NM_024529.5(CDC73):c.1559+8C>G rs751279026 0.00003
NM_024529.5(CDC73):c.1581G>A (p.Ser527=) rs141013612 0.00003
NM_024529.5(CDC73):c.216T>C (p.Pro72=) rs560439847 0.00003
NM_024529.5(CDC73):c.305C>T (p.Ala102Val) rs778134705 0.00003
NM_024529.5(CDC73):c.438G>A (p.Val146=) rs755468043 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_024529.5(CDC73):c.729+17del rs776965442 0.00003
NM_024529.5(CDC73):c.730-7A>G rs745511437 0.00003
NM_024529.5(CDC73):c.908-7T>C rs367790151 0.00003
NM_024529.5(CDC73):c.908-8T>C rs754598606 0.00003
NM_000383.4(AIRE):c.1014C>G (p.Ser338=) rs746054293 0.00002
NM_000383.4(AIRE):c.108C>A (p.Asp36Glu) rs758891043 0.00002
NM_000383.4(AIRE):c.1191G>T (p.Leu397=) rs572680101 0.00002
NM_000383.4(AIRE):c.1193C>T (p.Pro398Leu) rs754391375 0.00002
NM_000383.4(AIRE):c.1302C>T (p.Cys434=) rs370969296 0.00002
NM_000383.4(AIRE):c.1329G>A (p.Val443=) rs370017667 0.00002
NM_000383.4(AIRE):c.1333C>T (p.Arg445Trp) rs921069738 0.00002
NM_000383.4(AIRE):c.1334G>A (p.Arg445Gln) rs753878067 0.00002
NM_000383.4(AIRE):c.1370G>A (p.Cys457Tyr) rs373383785 0.00002
NM_000383.4(AIRE):c.1401-7G>A rs888720163 0.00002
NM_000383.4(AIRE):c.1434C>T (p.Asp478=) rs575870442 0.00002
NM_000383.4(AIRE):c.1454A>T (p.Glu485Val) rs779510704 0.00002
NM_000383.4(AIRE):c.1503+7G>T rs1161056630 0.00002
NM_000383.4(AIRE):c.1516A>G (p.Ser506Gly) rs201602355 0.00002
NM_000383.4(AIRE):c.1566+11C>A rs200735043 0.00002
NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys) rs1416029492 0.00002
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.1623C>G (p.Ala541=) rs1332443962 0.00002
NM_000383.4(AIRE):c.18G>C (p.Ala6=) rs1228505896 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.276G>A (p.Arg92=) rs765892829 0.00002
NM_000383.4(AIRE):c.423C>T (p.Ala141=) rs572002344 0.00002
NM_000383.4(AIRE):c.453C>T (p.Thr151=) rs554372593 0.00002
NM_000383.4(AIRE):c.498G>A (p.Pro166=) rs372169498 0.00002
NM_000383.4(AIRE):c.540G>A (p.Gly180=) rs777290325 0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_000383.4(AIRE):c.653-15G>A rs371094356 0.00002
NM_000383.4(AIRE):c.753C>G (p.Gly251=) rs772650680 0.00002
NM_000383.4(AIRE):c.790G>A (p.Ala264Thr) rs746154390 0.00002
NM_000383.4(AIRE):c.880-20G>C rs749193829 0.00002
NM_000388.4(CASR):c.1023G>T (p.Lys341Asn) rs200196962 0.00002
NM_000388.4(CASR):c.1099C>T (p.Pro367Ser) rs534100808 0.00002
NM_000388.4(CASR):c.1235C>T (p.Thr412Met) rs1473520699 0.00002
NM_000388.4(CASR):c.1377+17T>C rs200650843 0.00002
NM_000388.4(CASR):c.1377G>A (p.Gln459=) rs375297380 0.00002
NM_000388.4(CASR):c.1456G>T (p.Val486Leu) rs201829972 0.00002
NM_000388.4(CASR):c.1732+17T>G rs201033132 0.00002
NM_000388.4(CASR):c.1812G>C (p.Glu604Asp) rs147376568 0.00002
NM_000388.4(CASR):c.1842C>T (p.Ile614=) rs199513106 0.00002
NM_000388.4(CASR):c.1860C>T (p.Ala620=) rs141522130 0.00002
NM_000388.4(CASR):c.1914C>T (p.Arg638=) rs758587851 0.00002
NM_000388.4(CASR):c.1959C>T (p.Leu653=) rs545549211 0.00002
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys) rs757302986 0.00002
NM_000388.4(CASR):c.2145C>T (p.His715=) rs201242061 0.00002
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.2211C>A (p.Val737=) rs371784919 0.00002
NM_000388.4(CASR):c.2298C>T (p.His766=) rs200723499 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) rs763865303 0.00002
NM_000388.4(CASR):c.2669G>A (p.Arg890His) rs567996888 0.00002
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397 0.00002
NM_000388.4(CASR):c.2761G>A (p.Glu921Lys) rs755629322 0.00002
NM_000388.4(CASR):c.276G>A (p.Thr92=) rs201013419 0.00002
NM_000388.4(CASR):c.2802G>A (p.Gln934=) rs201771940 0.00002
NM_000388.4(CASR):c.2820G>A (p.Gln940=) rs573406193 0.00002
NM_000388.4(CASR):c.2921C>T (p.Thr974Ile) rs774943243 0.00002
NM_000388.4(CASR):c.2928A>T (p.Ser976=) rs772563184 0.00002
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) rs193921082 0.00002
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.445G>A (p.Val149Ile) rs749288251 0.00002
NM_000388.4(CASR):c.57C>T (p.Ala19=) rs761576251 0.00002
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) rs775751453 0.00002
NM_000388.4(CASR):c.675A>G (p.Lys225=) rs202226622 0.00002
NM_000388.4(CASR):c.712G>A (p.Asp238Asn) rs373376842 0.00002
NM_000388.4(CASR):c.845A>G (p.Glu282Gly) rs751540983 0.00002
NM_000388.4(CASR):c.873G>C (p.Lys291Asn) rs748306088 0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 0.00002
NM_001001433.3(STX16):c.*1312A>T rs757085474 0.00002
NM_001001433.3(STX16):c.*1896G>A rs543577961 0.00002
NM_001001433.3(STX16):c.*2568C>T rs536513007 0.00002
NM_001001433.3(STX16):c.-621G>A rs567647430 0.00002
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val) rs759337318 0.00002
NM_001370259.2(MEN1):c.1155G>A (p.Ala385=) rs201091135 0.00002
NM_001370259.2(MEN1):c.115T>C (p.Leu39=) rs863224438 0.00002
NM_001370259.2(MEN1):c.1185+4A>G rs863224809 0.00002
NM_001370259.2(MEN1):c.1185+5A>G rs748700116 0.00002
NM_001370259.2(MEN1):c.1186-7C>T rs587780842 0.00002
NM_001370259.2(MEN1):c.1350+6G>A rs746077651 0.00002
NM_001370259.2(MEN1):c.1356G>T (p.Arg452=) rs1180957953 0.00002
NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys) rs765306552 0.00002
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys) rs386833403 0.00002
NM_001370259.2(MEN1):c.1633C>T (p.Pro545Ser) rs1941510179 0.00002
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=) rs767677287 0.00002
NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro) rs752747097 0.00002
NM_001370259.2(MEN1):c.299C>T (p.Ala100Val) rs998337367 0.00002
NM_001370259.2(MEN1):c.352G>A (p.Val118Met) rs1060499975 0.00002
NM_001370259.2(MEN1):c.426C>T (p.Ser142=) rs753252650 0.00002
NM_001370259.2(MEN1):c.639C>T (p.Ala213=) rs746067825 0.00002
NM_001370259.2(MEN1):c.654+9C>T rs202134234 0.00002
NM_001370259.2(MEN1):c.696C>T (p.Arg232=) rs753411991 0.00002
NM_001370259.2(MEN1):c.784-16C>T rs754257177 0.00002
NM_001370259.2(MEN1):c.883C>T (p.Arg295Trp) rs1046929915 0.00002
NM_001370259.2(MEN1):c.989G>A (p.Arg330His) rs373135175 0.00002
NM_001370259.2(MEN1):c.993C>T (p.Asn331=) rs370176253 0.00002
NM_002067.5(GNA11):c.592A>C (p.Asn198His) rs768371546 0.00002
NM_002067.5(GNA11):c.605+5C>T rs759838121 0.00002
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722 0.00002
NM_024529.5(CDC73):c.*1789G>A rs1323646186 0.00002
NM_024529.5(CDC73):c.*3342G>A rs1174982740 0.00002
NM_024529.5(CDC73):c.1031-20A>G rs1558312757 0.00002
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn) rs971586985 0.00002
NM_024529.5(CDC73):c.1179G>A (p.Lys393=) rs200738107 0.00002
NM_024529.5(CDC73):c.1511G>A (p.Arg504His) rs759222387 0.00002
NM_024529.5(CDC73):c.1564A>G (p.Met522Val) rs751152405 0.00002
NM_024529.5(CDC73):c.201G>A (p.Val67=) rs752298916 0.00002
NM_024529.5(CDC73):c.237+7A>G rs1675543660 0.00002
NM_024529.5(CDC73):c.27A>G (p.Arg9=) rs763452834 0.00002
NM_024529.5(CDC73):c.306G>A (p.Ala102=) rs141131532 0.00002
NM_024529.5(CDC73):c.371-7T>C rs757680253 0.00002
NM_024529.5(CDC73):c.424-11G>C rs1188223298 0.00002
NM_024529.5(CDC73):c.432G>A (p.Glu144=) rs934976346 0.00002
NM_024529.5(CDC73):c.450A>G (p.Lys150=) rs779144943 0.00002
NM_024529.5(CDC73):c.729+10A>G rs757532746 0.00002
NM_024529.5(CDC73):c.789T>G (p.Arg263=) rs761846181 0.00002
NM_024529.5(CDC73):c.829-13A>C rs760909144 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024529.5(CDC73):c.93C>T (p.Ser31=) rs550111539 0.00002
NM_024529.5(CDC73):c.973-11T>C rs755543878 0.00002
NM_080425.4(GNAS):c.1275C>T (p.Phe425=) rs867492591 0.00002
NM_000315.4(PTH):c.*97A>G rs574555824 0.00001
NM_000383.4(AIRE):c.1015A>G (p.Ser339Gly) rs919219488 0.00001
NM_000383.4(AIRE):c.1023G>A (p.Leu341=) rs1352758309 0.00001
NM_000383.4(AIRE):c.1035C>T (p.Val345=) rs1480626384 0.00001
NM_000383.4(AIRE):c.1053G>A (p.Arg351=) rs760115494 0.00001
NM_000383.4(AIRE):c.1063C>A (p.Pro355Thr) rs1405678537 0.00001
NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser) rs1405678537 0.00001
NM_000383.4(AIRE):c.1067G>A (p.Arg356Gln) rs752432041 0.00001
NM_000383.4(AIRE):c.1069C>T (p.Pro357Ser) rs200540137 0.00001
NM_000383.4(AIRE):c.1074G>A (p.Gln358=) rs1294643656 0.00001
NM_000383.4(AIRE):c.1095+5G>T rs1057522692 0.00001
NM_000383.4(AIRE):c.1096-16G>A rs374995530 0.00001
NM_000383.4(AIRE):c.1096-1G>A rs780906602 0.00001
NM_000383.4(AIRE):c.1098C>A (p.Leu366=) rs769360966 0.00001
NM_000383.4(AIRE):c.10G>A (p.Asp4Asn) rs1014398252 0.00001
NM_000383.4(AIRE):c.1132A>G (p.Arg378Gly) rs758775963 0.00001
NM_000383.4(AIRE):c.1142C>T (p.Pro381Leu) rs145243072 0.00001
NM_000383.4(AIRE):c.1161C>T (p.Gly387=) rs372895437 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1170G>A (p.Thr390=) rs935084604 0.00001
NM_000383.4(AIRE):c.1179C>T (p.Val393=) rs752897977 0.00001
NM_000383.4(AIRE):c.117C>T (p.Pro39=) rs1033297636 0.00001
NM_000383.4(AIRE):c.1182C>T (p.Tyr394=) rs1482020075 0.00001
NM_000383.4(AIRE):c.118G>C (p.Glu40Gln) rs867495755 0.00001
NM_000383.4(AIRE):c.1194G>A (p.Pro398=) rs375536220 0.00001
NM_000383.4(AIRE):c.1210G>A (p.Ala404Thr) rs1340047804 0.00001
NM_000383.4(AIRE):c.1214C>T (p.Pro405Leu) rs769719554 0.00001
NM_000383.4(AIRE):c.1223G>C (p.Gly408Ala) rs751963717 0.00001
NM_000383.4(AIRE):c.1233C>T (p.Ser411=) rs1446995144 0.00001
NM_000383.4(AIRE):c.1243C>T (p.His415Tyr) rs752398254 0.00001
NM_000383.4(AIRE):c.1246C>T (p.Pro416Ser) rs199621393 0.00001
NM_000383.4(AIRE):c.1248C>G (p.Pro416=) rs74162064 0.00001
NM_000383.4(AIRE):c.1249C>T (p.Leu417=) rs1248107084 0.00001
NM_000383.4(AIRE):c.1271G>A (p.Gly424Asp) rs1208287091 0.00001
NM_000383.4(AIRE):c.1272T>C (p.Gly424=) rs527566053 0.00001
NM_000383.4(AIRE):c.1278+10G>A rs2040561918 0.00001
NM_000383.4(AIRE):c.1278+1G>A rs1184559866 0.00001
NM_000383.4(AIRE):c.1278+6C>T rs372612211 0.00001
NM_000383.4(AIRE):c.1279-20C>T rs1464505488 0.00001
NM_000383.4(AIRE):c.1282C>T (p.Leu428=) rs2040571465 0.00001
NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu) rs751271727 0.00001
NM_000383.4(AIRE):c.1294G>A (p.Ala432Thr) rs1296392334 0.00001
NM_000383.4(AIRE):c.1295C>T (p.Ala432Val) rs531220961 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1311C>T (p.Cys437=) rs771244760 0.00001
NM_000383.4(AIRE):c.132+17C>T rs1234416509 0.00001
NM_000383.4(AIRE):c.1338T>C (p.Cys446=) rs979048802 0.00001
NM_000383.4(AIRE):c.1345T>C (p.Cys449Arg) rs957681340 0.00001
NM_000383.4(AIRE):c.1350C>T (p.Ala450=) rs747182922 0.00001
NM_000383.4(AIRE):c.138G>A (p.Thr46=) rs376741040 0.00001
NM_000383.4(AIRE):c.1392C>A (p.Ser464=) rs759575621 0.00001
NM_000383.4(AIRE):c.1400+17G>A rs772820639 0.00001
NM_000383.4(AIRE):c.1400+19C>T rs368373038 0.00001
NM_000383.4(AIRE):c.1418G>A (p.Arg473Lys) rs750662701 0.00001
NM_000383.4(AIRE):c.1427C>T (p.Ser476Leu) rs754217318 0.00001
NM_000383.4(AIRE):c.1456G>C (p.Gly486Arg) rs749111202 0.00001
NM_000383.4(AIRE):c.1467C>T (p.Ala489=) rs1296834483 0.00001
NM_000383.4(AIRE):c.1480C>T (p.Arg494Cys) rs1465595959 0.00001
NM_000383.4(AIRE):c.1493G>A (p.Gly498Glu) rs1189029187 0.00001
NM_000383.4(AIRE):c.1503+8C>T rs1390347231 0.00001
NM_000383.4(AIRE):c.1503+9C>T rs984302778 0.00001
NM_000383.4(AIRE):c.1504-4C>T rs1314268321 0.00001
NM_000383.4(AIRE):c.1520A>T (p.His507Leu) rs373920616 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1567-4G>A rs372099368 0.00001
NM_000383.4(AIRE):c.1617G>A (p.Pro539=) rs769335225 0.00001
NM_000383.4(AIRE):c.1619C>T (p.Ala540Val) rs376731017 0.00001
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.183C>T (p.Ala61=) rs1471783563 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.21A>G (p.Leu7=) rs1347611962 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln) rs1288735234 0.00001
NM_000383.4(AIRE):c.305A>G (p.Lys102Arg) rs777675955 0.00001
NM_000383.4(AIRE):c.308-12C>T rs753353875 0.00001
NM_000383.4(AIRE):c.308-1G>C rs764588340 0.00001
NM_000383.4(AIRE):c.353T>A (p.Val118Asp) rs772511282 0.00001
NM_000383.4(AIRE):c.424G>A (p.Ala142Thr) rs755258600 0.00001
NM_000383.4(AIRE):c.454G>A (p.Ala152Thr) rs771314896 0.00001
NM_000383.4(AIRE):c.459C>T (p.Ser153=) rs997396625 0.00001
NM_000383.4(AIRE):c.463+16G>C rs761329134 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.468T>C (p.Ser156=) rs1265020470 0.00001
NM_000383.4(AIRE):c.477G>A (p.Lys159=) rs1192838059 0.00001
NM_000383.4(AIRE):c.489C>A (p.Pro163=) rs1006635868 0.00001
NM_000383.4(AIRE):c.51G>C (p.Glu17Asp) rs1036995518 0.00001
NM_000383.4(AIRE):c.534G>A (p.Gly178=) rs1160671214 0.00001
NM_000383.4(AIRE):c.538+3G>A rs557176517 0.00001
NM_000383.4(AIRE):c.590G>C (p.Gly197Ala) rs1185406745 0.00001
NM_000383.4(AIRE):c.624G>A (p.Gly208=) rs769510002 0.00001
NM_000383.4(AIRE):c.627C>T (p.Ile209=) rs775304437 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter) rs1029475010 0.00001
NM_000383.4(AIRE):c.652+8C>T rs1418632354 0.00001
NM_000383.4(AIRE):c.653-10C>G rs760848364 0.00001
NM_000383.4(AIRE):c.653-5C>T rs771182213 0.00001
NM_000383.4(AIRE):c.653-9T>A rs941927668 0.00001
NM_000383.4(AIRE):c.67G>A (p.Asp23Asn) rs975525470 0.00001
NM_000383.4(AIRE):c.789del (p.Ala264fs) rs387906295 0.00001
NM_000383.4(AIRE):c.794C>T (p.Ala265Val) rs775896896 0.00001
NM_000383.4(AIRE):c.798+5G>A rs1490186498 0.00001
NM_000383.4(AIRE):c.799-7C>T rs1287851004 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.840C>T (p.Pro280=) rs772423300 0.00001
NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) rs778148534 0.00001
NM_000383.4(AIRE):c.843C>T (p.Ala281=) rs769454980 0.00001
NM_000383.4(AIRE):c.855C>T (p.Leu285=) rs267606152 0.00001
NM_000383.4(AIRE):c.860G>A (p.Ser287Asn) rs375819189 0.00001
NM_000383.4(AIRE):c.891C>T (p.Asp297=) rs527944302 0.00001
NM_000383.4(AIRE):c.892G>A (p.Glu298Lys) rs763636007 0.00001
NM_000383.4(AIRE):c.900C>T (p.Ala300=) rs536338321 0.00001
NM_000383.4(AIRE):c.90C>T (p.His30=) rs754316070 0.00001
NM_000383.4(AIRE):c.939C>T (p.Gly313=) rs2040535317 0.00001
NM_000383.4(AIRE):c.96G>T (p.Leu32=) rs987241240 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000383.4(AIRE):c.983G>A (p.Arg328Gln) rs775921321 0.00001
NM_000383.4(AIRE):c.993C>T (p.Pro331=) rs761394248 0.00001
NM_000388.4(CASR):c.*1298A>G rs1470056406 0.00001
NM_000388.4(CASR):c.*625G>A rs886057833 0.00001
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.1011C>G (p.Val337=) rs201820733 0.00001
NM_000388.4(CASR):c.1019G>A (p.Arg340Lys) rs768228172 0.00001
NM_000388.4(CASR):c.1027G>A (p.Val343Ile) rs767003690 0.00001
NM_000388.4(CASR):c.1028T>C (p.Val343Ala) rs750427763 0.00001
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) rs193922420 0.00001
NM_000388.4(CASR):c.1075C>T (p.His359Tyr) rs1559959592 0.00001
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002 0.00001
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr) rs1217895146 0.00001
NM_000388.4(CASR):c.1111G>A (p.Asp371Asn) rs768952710 0.00001
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys) rs760190284 0.00001
NM_000388.4(CASR):c.1131C>T (p.His377=) rs766231362 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1146C>G (p.Asp382Glu) rs1386553525 0.00001
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275 0.00001
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) rs377282860 0.00001
NM_000388.4(CASR):c.1173C>T (p.Phe391=) rs998012311 0.00001
NM_000388.4(CASR):c.1175G>A (p.Arg392Gln) rs1287075426 0.00001
NM_000388.4(CASR):c.1179C>G (p.Pro393=) rs1553766873 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000388.4(CASR):c.118A>G (p.Ile40Val) rs1458833527 0.00001
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164 0.00001
NM_000388.4(CASR):c.1213G>A (p.Glu405Lys) rs868784672 0.00001
NM_000388.4(CASR):c.123T>C (p.His41=) rs1331565057 0.00001
NM_000388.4(CASR):c.1281T>C (p.Ile427=) rs771741512 0.00001
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) rs895543540 0.00001
NM_000388.4(CASR):c.1288G>T (p.Ala430Ser) rs201520875 0.00001
NM_000388.4(CASR):c.1297G>C (p.Asp433His) rs199511990 0.00001
NM_000388.4(CASR):c.1320G>A (p.Gly440=) rs200243816 0.00001
NM_000388.4(CASR):c.1322G>A (p.Arg441Lys) rs1230573005 0.00001
NM_000388.4(CASR):c.1334C>A (p.Thr445Asn) rs1471887387 0.00001
NM_000388.4(CASR):c.1338T>C (p.Asn446=) rs762799076 0.00001
NM_000388.4(CASR):c.1340G>A (p.Gly447Asp) rs141315218 0.00001
NM_000388.4(CASR):c.1371G>A (p.Ala457=) rs766477389 0.00001
NM_000388.4(CASR):c.1377+14T>C rs1272240293 0.00001
NM_000388.4(CASR):c.1377+15T>G rs1343974175 0.00001
NM_000388.4(CASR):c.1377+5G>T rs2074639584 0.00001
NM_000388.4(CASR):c.1378-6C>T rs765745520 0.00001
NM_000388.4(CASR):c.1378G>A (p.Val460Ile) rs753189535 0.00001
NM_000388.4(CASR):c.1389C>A (p.His463Gln) rs201572629 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000388.4(CASR):c.1407T>G (p.Phe469Leu) rs1468055232 0.00001
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile) rs145042469 0.00001
NM_000388.4(CASR):c.1423G>A (p.Glu475Lys) rs1406184611 0.00001
NM_000388.4(CASR):c.1428G>A (p.Gln476=) rs1457255751 0.00001
NM_000388.4(CASR):c.1431G>C (p.Val477=) rs1160830428 0.00001
NM_000388.4(CASR):c.1444T>A (p.Cys482Ser) rs774174934 0.00001
NM_000388.4(CASR):c.1449T>G (p.Gly483=) rs771186654 0.00001
NM_000388.4(CASR):c.1452C>T (p.Asp484=) rs776775141 0.00001
NM_000388.4(CASR):c.1460G>A (p.Gly487Glu) rs1206946808 0.00001
NM_000388.4(CASR):c.1469C>T (p.Ser490Phe) rs202112921 0.00001
NM_000388.4(CASR):c.1476C>T (p.Ile492=) rs1576870344 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.151C>T (p.Leu51Phe) rs996249687 0.00001
NM_000388.4(CASR):c.1524C>T (p.Val508=) rs868821997 0.00001
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) rs193922423 0.00001
NM_000388.4(CASR):c.1545C>G (p.Ala515=) rs1158039366 0.00001
NM_000388.4(CASR):c.1548G>A (p.Lys516=) rs1454679281 0.00001
NM_000388.4(CASR):c.1553G>A (p.Gly518Glu) rs377233360 0.00001
NM_000388.4(CASR):c.1572C>G (p.Asn524Lys) rs776534485 0.00001
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys) rs199688157 0.00001
NM_000388.4(CASR):c.1587G>A (p.Leu529=) rs762899043 0.00001
NM_000388.4(CASR):c.1608+3A>G rs2074815932 0.00001
NM_000388.4(CASR):c.1609-27C>T rs4678175 0.00001
NM_000388.4(CASR):c.1609-6C>G rs1423240738 0.00001
NM_000388.4(CASR):c.1609G>A (p.Val537Met) rs1250951106 0.00001
NM_000388.4(CASR):c.1611G>A (p.Val537=) rs1576875688 0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) rs886041637 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.172G>C (p.Val58Leu) rs1161795745 0.00001
NM_000388.4(CASR):c.1732+10C>A rs201859314 0.00001
NM_000388.4(CASR):c.1774A>G (p.Asn592Asp) rs2074921447 0.00001
NM_000388.4(CASR):c.177A>G (p.Glu59=) rs200756928 0.00001
NM_000388.4(CASR):c.1787C>T (p.Thr596Ile) rs1348036340 0.00001
NM_000388.4(CASR):c.1806G>A (p.Glu602=) rs779467828 0.00001
NM_000388.4(CASR):c.1809C>A (p.Ile603=) rs1332311514 0.00001
NM_000388.4(CASR):c.1821G>A (p.Ser607=) rs139515396 0.00001
NM_000388.4(CASR):c.1825A>G (p.Thr609Ala) rs199761731 0.00001
NM_000388.4(CASR):c.1826C>T (p.Thr609Met) rs759904153 0.00001
NM_000388.4(CASR):c.1839G>A (p.Gly613=) rs1173372329 0.00001
NM_000388.4(CASR):c.1840A>T (p.Ile614Phe) rs201564925 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.185+10G>A rs201869423 0.00001
NM_000388.4(CASR):c.185+4A>G rs1576852377 0.00001
NM_000388.4(CASR):c.185+5G>C rs554770681 0.00001
NM_000388.4(CASR):c.186-14C>A rs201342859 0.00001
NM_000388.4(CASR):c.1861G>A (p.Val621Met) rs751538967 0.00001
NM_000388.4(CASR):c.1884C>A (p.Ala628=) rs767444434 0.00001
NM_000388.4(CASR):c.1887T>C (p.Phe629=) rs750220557 0.00001
NM_000388.4(CASR):c.1906A>C (p.Lys636Gln) rs779019180 0.00001
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894 0.00001
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724 0.00001
NM_000388.4(CASR):c.1924A>G (p.Ile642Val) rs894717560 0.00001
NM_000388.4(CASR):c.1962C>A (p.Leu654=) rs746231094 0.00001
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040 0.00001
NM_000388.4(CASR):c.2016C>G (p.Pro672=) rs748910237 0.00001
NM_000388.4(CASR):c.201G>A (p.Gly67=) rs1203051815 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2028G>A (p.Thr676=) rs563112343 0.00001
NM_000388.4(CASR):c.2032C>T (p.Arg678Cys) rs1196241183 0.00001
NM_000388.4(CASR):c.2034C>T (p.Arg678=) rs202119951 0.00001
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys) rs767363250 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.2046G>A (p.Pro682=) rs760450976 0.00001
NM_000388.4(CASR):c.2048C>T (p.Ala683Val) rs1449068520 0.00001
NM_000388.4(CASR):c.204T>C (p.Phe68=) rs746711010 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000388.4(CASR):c.2102G>A (p.Arg701His) rs1284532044 0.00001
NM_000388.4(CASR):c.2106C>T (p.Val702=) rs1353730603 0.00001
NM_000388.4(CASR):c.2134A>G (p.Thr712Ala) rs1060502844 0.00001
NM_000388.4(CASR):c.2135C>A (p.Thr712Asn) rs746383651 0.00001
NM_000388.4(CASR):c.2139C>T (p.Ser713=) rs200384325 0.00001
NM_000388.4(CASR):c.2142C>T (p.Phe714=) rs780374949 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2151G>A (p.Lys717=) rs747627445 0.00001
NM_000388.4(CASR):c.2166C>G (p.Asn722Lys) rs771601139 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.2230T>C (p.Tyr744His) rs1328499732 0.00001
NM_000388.4(CASR):c.2236G>A (p.Ala746Thr) rs562364178 0.00001
NM_000388.4(CASR):c.2239C>T (p.Pro747Ser) rs1576877692 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.2258A>G (p.Asn753Ser) rs2074934867 0.00001
NM_000388.4(CASR):c.2295C>T (p.Cys765=) rs1232096655 0.00001
NM_000388.4(CASR):c.2301G>A (p.Glu767=) rs769706960 0.00001
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr) rs199508583 0.00001
NM_000388.4(CASR):c.2317C>T (p.Leu773=) rs1244281080 0.00001
NM_000388.4(CASR):c.2328G>A (p.Leu776=) rs750548257 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2331C>T (p.Ile777=) rs760608351 0.00001
NM_000388.4(CASR):c.2332G>A (p.Gly778Ser) rs1479933693 0.00001
NM_000388.4(CASR):c.2334C>T (p.Gly778=) rs1174997420 0.00001
NM_000388.4(CASR):c.2355C>T (p.Ala785=) rs1472693542 0.00001
NM_000388.4(CASR):c.2376C>T (p.Phe792=) rs2074937389 0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258 0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) rs1060502856 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000388.4(CASR):c.2410G>T (p.Ala804Ser) rs777219967 0.00001
NM_000388.4(CASR):c.242T>C (p.Ile81Thr) rs2074562857 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.2442C>T (p.Phe814=) rs200151175 0.00001
NM_000388.4(CASR):c.2448C>T (p.Ile816=) rs781343891 0.00001
NM_000388.4(CASR):c.2499C>T (p.Val833=) rs1240932110 0.00001
NM_000388.4(CASR):c.249C>G (p.Ser83Arg) rs1262032476 0.00001
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr) rs1418475623 0.00001
NM_000388.4(CASR):c.2550G>A (p.Ala850=) rs867061333 0.00001
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) rs200777304 0.00001
NM_000388.4(CASR):c.2563A>C (p.Asn855His) rs2074940790 0.00001
NM_000388.4(CASR):c.256G>T (p.Ala86Ser) rs1275539972 0.00001
NM_000388.4(CASR):c.2571C>T (p.Ile857=) rs1367231182 0.00001
NM_000388.4(CASR):c.2597G>A (p.Arg866His) rs387907401 0.00001
NM_000388.4(CASR):c.2607C>T (p.Ile869=) rs1258806535 0.00001
NM_000388.4(CASR):c.2613G>A (p.Glu871=) rs1553769147 0.00001
NM_000388.4(CASR):c.2635C>G (p.His879Asp) rs1553769153 0.00001
NM_000388.4(CASR):c.2637C>T (p.His879=) rs1576878230 0.00001
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr) rs763865303 0.00001
NM_000388.4(CASR):c.2656C>A (p.Arg886=) rs1559969429 0.00001
NM_000388.4(CASR):c.2668C>T (p.Arg890Cys) rs548127959 0.00001
NM_000388.4(CASR):c.2672G>A (p.Arg891His) rs533567836 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2679C>T (p.Asn893=) rs756152178 0.00001
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282 0.00001
NM_000388.4(CASR):c.2680G>T (p.Val894Phe) rs200883282 0.00001
NM_000388.4(CASR):c.2686C>G (p.Arg896Gly) rs749125441 0.00001
NM_000388.4(CASR):c.2693G>T (p.Arg898Leu) rs121909269 0.00001
NM_000388.4(CASR):c.2695T>C (p.Ser899Pro) rs201919386 0.00001
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439 0.00001
NM_000388.4(CASR):c.2718G>A (p.Thr906=) rs1403590168 0.00001
NM_000388.4(CASR):c.2727C>T (p.Thr909=) rs1259364724 0.00001
NM_000388.4(CASR):c.2735C>T (p.Ser912Phe) rs1366210816 0.00001
NM_000388.4(CASR):c.2738C>T (p.Ser913Phe) rs751273631 0.00001
NM_000388.4(CASR):c.275C>T (p.Thr92Met) rs764023058 0.00001
NM_000388.4(CASR):c.2760C>G (p.Ser920Arg) rs749958063 0.00001
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907 0.00001
NM_000388.4(CASR):c.2791A>C (p.Lys931Gln) rs746005172 0.00001
NM_000388.4(CASR):c.2806C>T (p.Leu936=) rs1396995630 0.00001
NM_000388.4(CASR):c.2807T>A (p.Leu936Gln) rs1379368670 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2829G>A (p.Gln943=) rs764614440 0.00001
NM_000388.4(CASR):c.2838G>A (p.Gln946=) rs774889993 0.00001
NM_000388.4(CASR):c.2843T>C (p.Leu948Pro) rs750090767 0.00001
NM_000388.4(CASR):c.2849T>C (p.Leu950Pro) rs753866409 0.00001
NM_000388.4(CASR):c.2851C>A (p.Pro951Thr) rs4987051 0.00001
NM_000388.4(CASR):c.2857C>G (p.Gln953Glu) rs542434118 0.00001
NM_000388.4(CASR):c.2871G>C (p.Gln957His) rs988523065 0.00001
NM_000388.4(CASR):c.2884T>C (p.Cys962Arg) rs758172766 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.2916G>A (p.Thr972=) rs769047966 0.00001
NM_000388.4(CASR):c.2934C>T (p.Ser978=) rs773041784 0.00001
NM_000388.4(CASR):c.2938G>A (p.Asp980Asn) rs1268294939 0.00001
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly) rs766653315 0.00001
NM_000388.4(CASR):c.2964C>G (p.Ala988=) rs202014330 0.00001
NM_000388.4(CASR):c.2978C>T (p.Thr993Met) rs758227966 0.00001
NM_000388.4(CASR):c.2994G>A (p.Leu998=) rs200260696 0.00001
NM_000388.4(CASR):c.3011G>A (p.Ser1004Asn) rs1436155766 0.00001
NM_000388.4(CASR):c.3012C>T (p.Ser1004=) rs1249991104 0.00001
NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala) rs1381478610 0.00001
NM_000388.4(CASR):c.3018G>A (p.Thr1006=) rs748637478 0.00001
NM_000388.4(CASR):c.3024C>T (p.Thr1008=) rs773737550 0.00001
NM_000388.4(CASR):c.3026G>A (p.Arg1009Gln) rs761030318 0.00001
NM_000388.4(CASR):c.3045G>A (p.Pro1015=) rs533848602 0.00001
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712 0.00001
NM_000388.4(CASR):c.3073C>T (p.Leu1025=) rs747388218 0.00001
NM_000388.4(CASR):c.3079G>A (p.Val1027Ile) rs776184769 0.00001
NM_000388.4(CASR):c.3092G>A (p.Gly1031Asp) rs201739901 0.00001
NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser) rs762383457 0.00001
NM_000388.4(CASR):c.3112G>A (p.Gly1038Arg) rs764032437 0.00001
NM_000388.4(CASR):c.3129G>A (p.Glu1043=) rs374529579 0.00001
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801 0.00001
NM_000388.4(CASR):c.3156A>C (p.Pro1052=) rs199497544 0.00001
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) rs769439564 0.00001
NM_000388.4(CASR):c.3208A>T (p.Thr1070Ser) rs557676527 0.00001
NM_000388.4(CASR):c.3210T>A (p.Thr1070=) rs1260226810 0.00001
NM_000388.4(CASR):c.3216A>G (p.Thr1072=) rs1259584809 0.00001
NM_000388.4(CASR):c.333C>T (p.Thr111=) rs758877487 0.00001
NM_000388.4(CASR):c.363T>A (p.Asp121Glu) rs201923228 0.00001
NM_000388.4(CASR):c.375T>G (p.Leu125=) rs780725247 0.00001
NM_000388.4(CASR):c.399G>A (p.Glu133=) rs2074565559 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg) rs769256610 0.00001
NM_000388.4(CASR):c.444C>T (p.Gly148=) rs1189990883 0.00001
NM_000388.4(CASR):c.455C>T (p.Ala152Val) rs761519187 0.00001
NM_000388.4(CASR):c.466C>T (p.Leu156=) rs1289582344 0.00001
NM_000388.4(CASR):c.492+5T>A rs200277155 0.00001
NM_000388.4(CASR):c.492+6C>A rs765346357 0.00001
NM_000388.4(CASR):c.492+9G>A rs2074567187 0.00001
NM_000388.4(CASR):c.492+9del rs762880287 0.00001
NM_000388.4(CASR):c.493-11G>C rs200769140 0.00001
NM_000388.4(CASR):c.512G>C (p.Ser171Thr) rs1220477298 0.00001
NM_000388.4(CASR):c.514A>C (p.Arg172=) rs201851934 0.00001
NM_000388.4(CASR):c.51C>T (p.Thr17=) rs1483411909 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.548T>C (p.Phe183Ser) rs1064794824 0.00001
NM_000388.4(CASR):c.553C>A (p.Arg185=) rs104893707 0.00001
NM_000388.4(CASR):c.572A>G (p.Glu191Gly) rs772067555 0.00001
NM_000388.4(CASR):c.579G>A (p.Gln193=) rs933291696 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.627G>A (p.Val209=) rs1335382846 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.656G>A (p.Gly219Glu) rs1237913277 0.00001
NM_000388.4(CASR):c.657G>A (p.Gly219=) rs768101011 0.00001
NM_000388.4(CASR):c.663G>A (p.Pro221=) rs750830429 0.00001
NM_000388.4(CASR):c.681A>G (p.Arg227=) rs766844902 0.00001
NM_000388.4(CASR):c.693G>A (p.Glu231=) rs1348427911 0.00001
NM_000388.4(CASR):c.732C>T (p.Ser244=) rs1366676707 0.00001
NM_000388.4(CASR):c.735G>A (p.Gln245=) rs1362875083 0.00001
NM_000388.4(CASR):c.738C>T (p.Tyr246=) rs895337411 0.00001
NM_000388.4(CASR):c.752A>G (p.Glu251Gly) rs140418347 0.00001
NM_000388.4(CASR):c.759G>A (p.Gln253=) rs2074626789 0.00001
NM_000388.4(CASR):c.780A>G (p.Gln260=) rs1060504734 0.00001
NM_000388.4(CASR):c.813C>A (p.Ser271=) rs759939185 0.00001
NM_000388.4(CASR):c.828T>C (p.Leu276=) rs767726621 0.00001
NM_000388.4(CASR):c.844G>A (p.Glu282Lys) rs1269873145 0.00001
NM_000388.4(CASR):c.846G>C (p.Glu282Asp) rs199729084 0.00001
NM_000388.4(CASR):c.852C>A (p.Val284=) rs1489604903 0.00001
NM_000388.4(CASR):c.857G>A (p.Arg286His) rs922511747 0.00001
NM_000388.4(CASR):c.866C>T (p.Thr289Met) rs755840531 0.00001
NM_000388.4(CASR):c.882G>A (p.Leu294=) rs371941718 0.00001
NM_000388.4(CASR):c.921G>A (p.Met307Ile) rs751095642 0.00001
NM_000388.4(CASR):c.937G>A (p.Val313Met) rs200838528 0.00001
NM_000388.4(CASR):c.939G>A (p.Val313=) rs750302987 0.00001
NM_000388.4(CASR):c.945C>T (p.Gly315=) rs1053891124 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.960C>T (p.Phe320=) rs753011255 0.00001
NM_000388.4(CASR):c.96T>C (p.Ile32=) rs144604474 0.00001
NM_000388.4(CASR):c.970G>A (p.Ala324Thr) rs758569521 0.00001
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) rs758232331 0.00001
NM_000516.7(GNAS):c.111C>T (p.Tyr37=) rs749235261 0.00001
NM_000516.7(GNAS):c.136C>T (p.Leu46=) rs775009418 0.00001
NM_000516.7(GNAS):c.258-7A>C rs1183884518 0.00001
NM_000516.7(GNAS):c.367G>A (p.Glu123Lys) rs769546153 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000516.7(GNAS):c.660-15C>A rs755766644 0.00001
NM_000516.7(GNAS):c.683G>A (p.Arg228His) rs1317816474 0.00001
NM_000516.7(GNAS):c.738C>T (p.Phe246=) rs772094317 0.00001
NM_001001433.3(STX16):c.*1195A>G rs1488875431 0.00001
NM_001001433.3(STX16):c.*1547C>G rs532426531 0.00001
NM_001001433.3(STX16):c.*217G>A rs145140409 0.00001
NM_001001433.3(STX16):c.*2558T>C rs1276361785 0.00001
NM_001001433.3(STX16):c.*2896A>G rs886056868 0.00001
NM_001001433.3(STX16):c.*539G>A rs571571425 0.00001
NM_001001433.3(STX16):c.*558T>C rs1192979707 0.00001
NM_001001433.3(STX16):c.-494G>A rs1018502247 0.00001
NM_001001433.3(STX16):c.-707G>A rs886056841 0.00001
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp) rs115046538 0.00001
NM_001001433.3(STX16):c.315G>A (p.Lys105=) rs759176630 0.00001
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys) rs759831553 0.00001
NM_001001433.3(STX16):c.593T>C (p.Phe198Ser) rs756954719 0.00001
NM_001001433.3(STX16):c.904A>G (p.Met302Val) rs886056846 0.00001
NM_001370259.2(MEN1):c.*104C>T rs886048477 0.00001
NM_001370259.2(MEN1):c.*400G>A rs1351825181 0.00001
NM_001370259.2(MEN1):c.*89G>A rs886048478 0.00001
NM_001370259.2(MEN1):c.1004G>A (p.Arg335Gln) rs764998893 0.00001
NM_001370259.2(MEN1):c.1020C>A (p.Ala340=) rs1060503796 0.00001
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val) rs377715802 0.00001
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=) rs878855184 0.00001
NM_001370259.2(MEN1):c.1038T>C (p.Thr346=) rs1414483292 0.00001
NM_001370259.2(MEN1):c.1049+11C>A rs1229329826 0.00001
NM_001370259.2(MEN1):c.1049+13C>T rs533537007 0.00001
NM_001370259.2(MEN1):c.1050-19G>C rs1322811280 0.00001
NM_001370259.2(MEN1):c.1060T>C (p.Cys354Arg) rs371503251 0.00001
NM_001370259.2(MEN1):c.1086G>A (p.Lys362=) rs1941672084 0.00001
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile) rs758404089 0.00001
NM_001370259.2(MEN1):c.1128G>A (p.Leu376=) rs754129242 0.00001
NM_001370259.2(MEN1):c.1136C>A (p.Ala379Glu) rs1592640172 0.00001
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr) rs1225964479 0.00001
NM_001370259.2(MEN1):c.114C>G (p.Ser38=) rs1252317486 0.00001
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp) rs761360623 0.00001
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys) rs773978650 0.00001
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) rs761102084 0.00001
NM_001370259.2(MEN1):c.1181G>C (p.Ser394Thr) rs934222398 0.00001
NM_001370259.2(MEN1):c.1185+19A>G rs1456615213 0.00001
NM_001370259.2(MEN1):c.1186-17C>T rs773542607 0.00001
NM_001370259.2(MEN1):c.1186-6G>A rs576193460 0.00001
NM_001370259.2(MEN1):c.1206C>T (p.Ser402=) rs770037856 0.00001
NM_001370259.2(MEN1):c.1207G>A (p.Ala403Thr) rs746135199 0.00001
NM_001370259.2(MEN1):c.1215G>A (p.Gln405=) rs1289898067 0.00001
NM_001370259.2(MEN1):c.121C>T (p.Leu41=) rs1441672096 0.00001
NM_001370259.2(MEN1):c.1226G>A (p.Cys409Tyr) rs1060499988 0.00001
NM_001370259.2(MEN1):c.1230C>T (p.Phe410=) rs878855188 0.00001
NM_001370259.2(MEN1):c.1231G>A (p.Ala411Thr) rs757179911 0.00001
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) rs1060499974 0.00001
NM_001370259.2(MEN1):c.1275G>A (p.Glu425=) rs1236745071 0.00001
NM_001370259.2(MEN1):c.1287G>A (p.Thr429=) rs376598079 0.00001
NM_001370259.2(MEN1):c.1350+12C>A rs1186166424 0.00001
NM_001370259.2(MEN1):c.1350+19G>A rs1331281610 0.00001
NM_001370259.2(MEN1):c.1351-11C>T rs1941574613 0.00001
NM_001370259.2(MEN1):c.1351-16C>G rs766052368 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001370259.2(MEN1):c.1355G>A (p.Arg452Gln) rs775922507 0.00001
NM_001370259.2(MEN1):c.135G>A (p.Glu45=) rs778670301 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln) rs200035619 0.00001
NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln) rs748102589 0.00001
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=) rs754445482 0.00001
NM_001370259.2(MEN1):c.1395C>T (p.Ala465=) rs748820252 0.00001
NM_001370259.2(MEN1):c.1397A>T (p.Glu466Val) rs1352053477 0.00001
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr) rs779589005 0.00001
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=) rs755734265 0.00001
NM_001370259.2(MEN1):c.1447C>T (p.Pro483Ser) rs1565638021 0.00001
NM_001370259.2(MEN1):c.1458G>A (p.Glu486=) rs1413990417 0.00001
NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser) rs587778440 0.00001
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu) rs766604600 0.00001
NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu) rs1060499993 0.00001
NM_001370259.2(MEN1):c.1482G>A (p.Pro494=) rs773363654 0.00001
NM_001370259.2(MEN1):c.1492C>G (p.Pro498Ala) rs771842369 0.00001
NM_001370259.2(MEN1):c.1497A>G (p.Ala499=) rs1057121245 0.00001
NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro) rs1060499994 0.00001
NM_001370259.2(MEN1):c.1539A>T (p.Gly513=) rs1941530792 0.00001
NM_001370259.2(MEN1):c.1542C>T (p.Pro514=) rs1592631827 0.00001
NM_001370259.2(MEN1):c.1558G>A (p.Gly520Arg) rs1427043628 0.00001
NM_001370259.2(MEN1):c.1564G>C (p.Val522Leu) rs1060499983 0.00001
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr) rs760683615 0.00001
NM_001370259.2(MEN1):c.1578C>A (p.Ala526=) rs767655504 0.00001
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln) rs1085307502 0.00001
NM_001370259.2(MEN1):c.1589A>C (p.Glu530Ala) rs1565636654 0.00001
NM_001370259.2(MEN1):c.159C>G (p.Val53=) rs1411927545 0.00001
NM_001370259.2(MEN1):c.1607A>G (p.Gln536Arg) rs762867287 0.00001
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=) rs1055457298 0.00001
NM_001370259.2(MEN1):c.1610T>G (p.Val537Gly) rs775422717 0.00001
NM_001370259.2(MEN1):c.1635G>A (p.Pro545=) rs1349729840 0.00001
NM_001370259.2(MEN1):c.1653C>T (p.Leu551=) rs1592630324 0.00001
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=) rs143423552 0.00001
NM_001370259.2(MEN1):c.1701C>T (p.Ala567=) rs757417271 0.00001
NM_001370259.2(MEN1):c.1703C>T (p.Thr568Ile) rs751839903 0.00001
NM_001370259.2(MEN1):c.1740G>A (p.Thr580=) rs1114167530 0.00001
NM_001370259.2(MEN1):c.1749G>C (p.Ser583=) rs765105348 0.00001
NM_001370259.2(MEN1):c.1758G>A (p.Gln586=) rs759563305 0.00001
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro) rs1411766225 0.00001
NM_001370259.2(MEN1):c.1779C>T (p.Ser593=) rs1157546350 0.00001
NM_001370259.2(MEN1):c.177C>G (p.Pro59=) rs749001511 0.00001
NM_001370259.2(MEN1):c.178G>C (p.Glu60Gln) rs1174208039 0.00001
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr) rs1366457977 0.00001
NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu) rs137880635 0.00001
NM_001370259.2(MEN1):c.200C>T (p.Pro67Leu) rs757766498 0.00001
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu) rs150308912 0.00001
NM_001370259.2(MEN1):c.219C>T (p.Gly73=) rs758434243 0.00001
NM_001370259.2(MEN1):c.246C>G (p.Asp82Glu) rs1238113583 0.00001
NM_001370259.2(MEN1):c.249G>T (p.Leu83=) rs386134252 0.00001
NM_001370259.2(MEN1):c.258C>T (p.Ile86=) rs759731868 0.00001
NM_001370259.2(MEN1):c.275G>A (p.Arg92His) rs375628323 0.00001
NM_001370259.2(MEN1):c.300C>G (p.Ala100=) rs773136972 0.00001
NM_001370259.2(MEN1):c.303C>T (p.Val101=) rs1463347315 0.00001
NM_001370259.2(MEN1):c.322C>G (p.Arg108Gly) rs794728647 0.00001
NM_001370259.2(MEN1):c.323G>A (p.Arg108Gln) rs1565651551 0.00001
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu) rs1389398299 0.00001
NM_001370259.2(MEN1):c.336C>G (p.Val112=) rs1200092213 0.00001
NM_001370259.2(MEN1):c.344G>A (p.Arg115His) rs1114167507 0.00001
NM_001370259.2(MEN1):c.345T>C (p.Arg115=) rs748948131 0.00001
NM_001370259.2(MEN1):c.346G>A (p.Glu116Lys) rs1060499992 0.00001
NM_001370259.2(MEN1):c.349C>T (p.Leu117=) rs1941984891 0.00001
NM_001370259.2(MEN1):c.387C>G (p.Leu129=) rs1257890690 0.00001
NM_001370259.2(MEN1):c.390C>T (p.Ser130=) rs771272168 0.00001
NM_001370259.2(MEN1):c.396C>T (p.Ser132=) rs896947172 0.00001
NM_001370259.2(MEN1):c.446-11C>G rs1273035105 0.00001
NM_001370259.2(MEN1):c.446-3C>A rs377461506 0.00001
NM_001370259.2(MEN1):c.465C>T (p.Ser155=) rs936786553 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_001370259.2(MEN1):c.473C>T (p.Ala158Val) rs794728617 0.00001
NM_001370259.2(MEN1):c.476T>C (p.Phe159Ser) rs1555165861 0.00001
NM_001370259.2(MEN1):c.485T>C (p.Val162Ala) rs748648909 0.00001
NM_001370259.2(MEN1):c.48C>T (p.Ile16=) rs1060503797 0.00001
NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp) rs1565648547 0.00001
NM_001370259.2(MEN1):c.49G>A (p.Asp17Asn) rs1399824473 0.00001
NM_001370259.2(MEN1):c.50A>G (p.Asp17Gly) rs1157581823 0.00001
NM_001370259.2(MEN1):c.513G>C (p.Arg171=) rs560870111 0.00001
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser) rs376872829 0.00001
NM_001370259.2(MEN1):c.539A>T (p.Asp180Val) rs1064794683 0.00001
NM_001370259.2(MEN1):c.562C>T (p.Pro188Ser) rs1209606579 0.00001
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg) rs1555165742 0.00001
NM_001370259.2(MEN1):c.570G>A (p.Gly190=) rs547249181 0.00001
NM_001370259.2(MEN1):c.573G>A (p.Glu191=) rs1592651018 0.00001
NM_001370259.2(MEN1):c.609C>T (p.Asn203=) rs749844029 0.00001
NM_001370259.2(MEN1):c.616C>T (p.Arg206Cys) rs1392579402 0.00001
NM_001370259.2(MEN1):c.621G>A (p.Arg207=) rs779966911 0.00001
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser) rs1438685841 0.00001
NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser) rs781493730 0.00001
NM_001370259.2(MEN1):c.654+5T>C rs757049384 0.00001
NM_001370259.2(MEN1):c.655-5C>G rs752563214 0.00001
NM_001370259.2(MEN1):c.681C>T (p.Tyr227=) rs778921501 0.00001
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val) rs760289964 0.00001
NM_001370259.2(MEN1):c.711G>A (p.Ala237=) rs144677807 0.00001
NM_001370259.2(MEN1):c.720G>T (p.Val240=) rs1555165534 0.00001
NM_001370259.2(MEN1):c.726C>T (p.Ala242=) rs1198651608 0.00001
NM_001370259.2(MEN1):c.729C>T (p.Ile243=) rs1353237754 0.00001
NM_001370259.2(MEN1):c.736T>G (p.Ser246Ala) rs1175283759 0.00001
NM_001370259.2(MEN1):c.74C>T (p.Ala25Val) rs1462138625 0.00001
NM_001370259.2(MEN1):c.783+7G>A rs1060503793 0.00001
NM_001370259.2(MEN1):c.784-129T>A rs536461697 0.00001
NM_001370259.2(MEN1):c.801C>G (p.Leu267=) rs760850856 0.00001
NM_001370259.2(MEN1):c.824+12G>A rs768402169 0.00001
NM_001370259.2(MEN1):c.824+19C>G rs1941789202 0.00001
NM_001370259.2(MEN1):c.825-14T>C rs773447061 0.00001
NM_001370259.2(MEN1):c.828C>T (p.Tyr276=) rs1060503789 0.00001
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser) rs368619946 0.00001
NM_001370259.2(MEN1):c.843G>C (p.Gly281=) rs562620826 0.00001
NM_001370259.2(MEN1):c.849G>A (p.Leu283=) rs1592646641 0.00001
NM_001370259.2(MEN1):c.856C>T (p.Leu286=) rs542321016 0.00001
NM_001370259.2(MEN1):c.861G>A (p.Glu287=) rs1336658836 0.00001
NM_001370259.2(MEN1):c.884G>A (p.Arg295Gln) rs1397110438 0.00001
NM_001370259.2(MEN1):c.913-8C>T rs373893527 0.00001
NM_001370259.2(MEN1):c.940C>T (p.Arg314Trp) rs139936447 0.00001
NM_001370259.2(MEN1):c.948A>T (p.Glu316Asp) rs756604268 0.00001
NM_001370259.2(MEN1):c.980A>G (p.Tyr327Cys) rs377403837 0.00001
NM_001370259.2(MEN1):c.984C>T (p.His328=) rs757323408 0.00001
NM_001370259.2(MEN1):c.988C>T (p.Arg330Cys) rs1565644005 0.00001
NM_001370259.2(MEN1):c.990C>A (p.Arg330=) rs1359880787 0.00001
NM_001370259.2(MEN1):c.999T>C (p.Asn333=) rs763133775 0.00001
NM_002067.5(GNA11):c.138C>T (p.Gly46=) rs776843648 0.00001
NM_002067.5(GNA11):c.477-12G>A rs766787225 0.00001
NM_002067.5(GNA11):c.606-6T>C rs371052478 0.00001
NM_002067.5(GNA11):c.805G>A (p.Val269Ile) rs144829732 0.00001
NM_002067.5(GNA11):c.987G>A (p.Thr329=) rs375856122 0.00001
NM_004752.4(GCM2):c.*630T>A rs886060978 0.00001
NM_004752.4(GCM2):c.*717C>T rs886060976 0.00001
NM_004752.4(GCM2):c.116G>A (p.Arg39Gln) rs534895356 0.00001
NM_004752.4(GCM2):c.1504A>C (p.Asn502His) rs533942394 0.00001
NM_016592.5(GNAS):c.362C>T (p.Ser121Phe) rs770140447 0.00001
NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp) rs755916513 0.00001
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_024529.4(CDC73):c.-186C>G rs886045710 0.00001
NM_024529.5(CDC73):c.*1292C>T rs895043816 0.00001
NM_024529.5(CDC73):c.*1535A>G rs1011765527 0.00001
NM_024529.5(CDC73):c.*1660A>G rs1310867519 0.00001
NM_024529.5(CDC73):c.*2651T>G rs886045730 0.00001
NM_024529.5(CDC73):c.*298A>T rs1678035186 0.00001
NM_024529.5(CDC73):c.*3063G>A rs182545034 0.00001
NM_024529.5(CDC73):c.*3714T>C rs886045737 0.00001
NM_024529.5(CDC73):c.*3783C>T rs1337028451 0.00001
NM_024529.5(CDC73):c.*3785A>G rs886045738 0.00001
NM_024529.5(CDC73):c.*3875A>G rs1678100975 0.00001
NM_024529.5(CDC73):c.*972A>G rs886045717 0.00001
NM_024529.5(CDC73):c.-121G>A rs886045711 0.00001
NM_024529.5(CDC73):c.-135C>T rs1675456932 0.00001
NM_024529.5(CDC73):c.-167A>G rs1156904196 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024529.5(CDC73):c.1030+10T>C rs960030007 0.00001
NM_024529.5(CDC73):c.1031-18T>G rs1322891058 0.00001
NM_024529.5(CDC73):c.1031-3C>T rs770103860 0.00001
NM_024529.5(CDC73):c.1047T>G (p.Pro349=) rs1225995248 0.00001
NM_024529.5(CDC73):c.1066+5G>A rs1018448425 0.00001
NM_024529.5(CDC73):c.1067-4A>G rs749519719 0.00001
NM_024529.5(CDC73):c.1067-4del rs758036472 0.00001
NM_024529.5(CDC73):c.1067-9T>C rs1253333879 0.00001
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter) rs771907995 0.00001
NM_024529.5(CDC73):c.1074A>G (p.Arg358=) rs3203682 0.00001
NM_024529.5(CDC73):c.1076C>T (p.Thr359Ile) rs1677294864 0.00001
NM_024529.5(CDC73):c.1080C>G (p.Pro360=) rs1211967086 0.00001
NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) rs776519655 0.00001
NM_024529.5(CDC73):c.1105A>G (p.Thr369Ala) rs762532730 0.00001
NM_024529.5(CDC73):c.111G>A (p.Lys37=) rs1355286253 0.00001
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) rs774536123 0.00001
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu) rs587778167 0.00001
NM_024529.5(CDC73):c.1153A>C (p.Lys385Gln) rs762203137 0.00001
NM_024529.5(CDC73):c.1154+17A>G rs1677296857 0.00001
NM_024529.5(CDC73):c.1155-18A>G rs570158564 0.00001
NM_024529.5(CDC73):c.1167A>C (p.Ser389=) rs762138528 0.00001
NM_024529.5(CDC73):c.116A>G (p.Asn39Ser) rs746972930 0.00001
NM_024529.5(CDC73):c.1184A>G (p.Gln395Arg) rs374856513 0.00001
NM_024529.5(CDC73):c.1194A>G (p.Gln398=) rs1325048946 0.00001
NM_024529.5(CDC73):c.1212A>C (p.Leu404=) rs552978336 0.00001
NM_024529.5(CDC73):c.1215A>T (p.Ile405=) rs765427308 0.00001
NM_024529.5(CDC73):c.1234A>G (p.Met412Val) rs752959843 0.00001
NM_024529.5(CDC73):c.1248C>T (p.Gly416=) rs780906083 0.00001
NM_024529.5(CDC73):c.1254A>C (p.Ala418=) rs1364135790 0.00001
NM_024529.5(CDC73):c.1255A>G (p.Ile419Val) rs1198867364 0.00001
NM_024529.5(CDC73):c.1269A>G (p.Val423=) rs745826358 0.00001
NM_024529.5(CDC73):c.1287C>T (p.Asp429=) rs756002639 0.00001
NM_024529.5(CDC73):c.1308T>A (p.Pro436=) rs991835494 0.00001
NM_024529.5(CDC73):c.131+10G>T rs745330677 0.00001
NM_024529.5(CDC73):c.131+14G>C rs374880255 0.00001
NM_024529.5(CDC73):c.131+17T>C rs748937817 0.00001
NM_024529.5(CDC73):c.131+4A>G rs878855089 0.00001
NM_024529.5(CDC73):c.1316+10T>A rs1404967161 0.00001
NM_024529.5(CDC73):c.1317-6T>C rs1422764501 0.00001
NM_024529.5(CDC73):c.132-10A>T rs757250113 0.00001
NM_024529.5(CDC73):c.132-12T>A rs751268088 0.00001
NM_024529.5(CDC73):c.1351G>A (p.Ala451Thr) rs1553291414 0.00001
NM_024529.5(CDC73):c.1359G>A (p.Gln453=) rs1572217729 0.00001
NM_024529.5(CDC73):c.1374A>G (p.Pro458=) rs1257938148 0.00001
NM_024529.5(CDC73):c.138A>T (p.Gly46=) rs1572142522 0.00001
NM_024529.5(CDC73):c.1405A>G (p.Ile469Val) rs1252554973 0.00001
NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg) rs1678015324 0.00001
NM_024529.5(CDC73):c.1451G>A (p.Arg484His) rs774557338 0.00001
NM_024529.5(CDC73):c.1453C>G (p.Leu485Val) rs761968225 0.00001
NM_024529.5(CDC73):c.1461A>C (p.Pro487=) rs1214206363 0.00001
NM_024529.5(CDC73):c.1464T>C (p.Asn488=) rs1001791306 0.00001
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.1551A>G (p.Thr517=) rs752668844 0.00001
NM_024529.5(CDC73):c.1552T>C (p.Leu518=) rs758050507 0.00001
NM_024529.5(CDC73):c.1559+20A>G rs1281829953 0.00001
NM_024529.5(CDC73):c.1559+4A>G rs1001095861 0.00001
NM_024529.5(CDC73):c.1559+9G>A rs1335505407 0.00001
NM_024529.5(CDC73):c.1560-11del rs772000043 0.00001
NM_024529.5(CDC73):c.1572G>A (p.Lys524=) rs988984386 0.00001
NM_024529.5(CDC73):c.1574A>G (p.His525Arg) rs188778681 0.00001
NM_024529.5(CDC73):c.1575T>G (p.His525Gln) rs1378278674 0.00001
NM_024529.5(CDC73):c.1580C>T (p.Ser527Leu) rs767254478 0.00001
NM_024529.5(CDC73):c.1595G>A (p.Ter532=) rs1358200605 0.00001
NM_024529.5(CDC73):c.187C>T (p.Leu63=) rs779704449 0.00001
NM_024529.5(CDC73):c.198C>T (p.Asn66=) rs1216098981 0.00001
NM_024529.5(CDC73):c.199G>A (p.Val67Met) rs748952219 0.00001
NM_024529.5(CDC73):c.204C>T (p.His68=) rs1052345208 0.00001
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) rs886041158 0.00001
NM_024529.5(CDC73):c.228A>G (p.Arg76=) rs978907694 0.00001
NM_024529.5(CDC73):c.238-16A>C rs1440236127 0.00001
NM_024529.5(CDC73):c.273A>C (p.Arg91=) rs1675670810 0.00001
NM_024529.5(CDC73):c.280C>T (p.Leu94=) rs747811573 0.00001
NM_024529.5(CDC73):c.288A>G (p.Gly96=) rs144194535 0.00001
NM_024529.5(CDC73):c.303A>C (p.Glu101Asp) rs372978307 0.00001
NM_024529.5(CDC73):c.315G>A (p.Ser105=) rs771258964 0.00001
NM_024529.5(CDC73):c.318A>C (p.Ala106=) rs1415842827 0.00001
NM_024529.5(CDC73):c.322A>G (p.Ile108Val) rs1475793228 0.00001
NM_024529.5(CDC73):c.364A>G (p.Thr122Ala) rs763095800 0.00001
NM_024529.5(CDC73):c.36C>T (p.Asn12=) rs1238773294 0.00001
NM_024529.5(CDC73):c.370+17A>G rs760583012 0.00001
NM_024529.5(CDC73):c.371-17T>C rs763780849 0.00001
NM_024529.5(CDC73):c.371-5T>C rs968260282 0.00001
NM_024529.5(CDC73):c.372C>G (p.Val124=) rs746368285 0.00001
NM_024529.5(CDC73):c.382G>A (p.Ala128Thr) rs756584058 0.00001
NM_024529.5(CDC73):c.391G>A (p.Val131Ile) rs769052041 0.00001
NM_024529.5(CDC73):c.416G>A (p.Arg139Gln) rs1675778391 0.00001
NM_024529.5(CDC73):c.423+12G>A rs1442957149 0.00001
NM_024529.5(CDC73):c.424-17C>A rs750008798 0.00001
NM_024529.5(CDC73):c.424-7T>C rs370666592 0.00001
NM_024529.5(CDC73):c.429A>G (p.Glu143=) rs1258202181 0.00001
NM_024529.5(CDC73):c.489G>A (p.Gly163=) rs776075865 0.00001
NM_024529.5(CDC73):c.498G>A (p.Gln166=) rs1553279087 0.00001
NM_024529.5(CDC73):c.501T>C (p.Thr167=) rs200603992 0.00001
NM_024529.5(CDC73):c.512+10C>G rs147939077 0.00001
NM_024529.5(CDC73):c.512+13T>C rs1442435592 0.00001
NM_024529.5(CDC73):c.513-8G>T rs757366134 0.00001
NM_024529.5(CDC73):c.519G>A (p.Leu173=) rs749039338 0.00001
NM_024529.5(CDC73):c.534A>G (p.Ser178=) rs150365980 0.00001
NM_024529.5(CDC73):c.546T>C (p.Ile182=) rs1478351190 0.00001
NM_024529.5(CDC73):c.552A>C (p.Ala184=) rs1170697980 0.00001
NM_024529.5(CDC73):c.609T>C (p.Asp203=) rs1160145790 0.00001
NM_024529.5(CDC73):c.625A>C (p.Lys209Gln) rs1455683303 0.00001
NM_024529.5(CDC73):c.654A>G (p.Val218=) rs1675913850 0.00001
NM_024529.5(CDC73):c.668A>G (p.Asp223Gly) rs776394390 0.00001
NM_024529.5(CDC73):c.690A>G (p.Val230=) rs190156691 0.00001
NM_024529.5(CDC73):c.729+18C>T rs767669963 0.00001
NM_024529.5(CDC73):c.729+20C>T rs750619160 0.00001
NM_024529.5(CDC73):c.729+7A>G rs1060503807 0.00001
NM_024529.5(CDC73):c.730-14C>G rs183077646 0.00001
NM_024529.5(CDC73):c.754A>G (p.Ile252Val) rs374290883 0.00001
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys) rs878855091 0.00001
NM_024529.5(CDC73):c.788G>A (p.Arg263His) rs1307745420 0.00001
NM_024529.5(CDC73):c.78C>T (p.Ile26=) rs1675465371 0.00001
NM_024529.5(CDC73):c.794C>T (p.Pro265Leu) rs1335804597 0.00001
NM_024529.5(CDC73):c.803G>A (p.Arg268Gln) rs750706815 0.00001
NM_024529.5(CDC73):c.806C>G (p.Pro269Arg) rs370333081 0.00001
NM_024529.5(CDC73):c.815A>G (p.Asn272Ser) rs752383339 0.00001
NM_024529.5(CDC73):c.822A>G (p.Ala274=) rs927001605 0.00001
NM_024529.5(CDC73):c.823C>T (p.Pro275Ser) rs758391256 0.00001
NM_024529.5(CDC73):c.825T>C (p.Pro275=) rs945631446 0.00001
NM_024529.5(CDC73):c.829-17A>C rs1676082795 0.00001
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys) rs754070093 0.00001
NM_024529.5(CDC73):c.842G>A (p.Arg281His) rs762716583 0.00001
NM_024529.5(CDC73):c.84G>A (p.Gly28=) rs780205664 0.00001
NM_024529.5(CDC73):c.856A>G (p.Ile286Val) rs1362923384 0.00001
NM_024529.5(CDC73):c.889A>C (p.Arg297=) rs748954863 0.00001
NM_024529.5(CDC73):c.907+20T>C rs772519117 0.00001
NM_024529.5(CDC73):c.908-4G>T rs748472788 0.00001
NM_024529.5(CDC73):c.933T>A (p.Thr311=) rs1409062093 0.00001
NM_024529.5(CDC73):c.972+9A>C rs1266238884 0.00001
NM_024529.5(CDC73):c.973-15C>T rs1316699413 0.00001
NM_024529.5(CDC73):c.973-23487G>A rs765816443 0.00001
NM_024529.5(CDC73):c.987C>T (p.Ala329=) rs1037572907 0.00001
NM_080425.4(GNAS):c.1200C>A (p.Ala400=) rs908810796 0.00001
NM_080425.4(GNAS):c.1323C>T (p.Pro441=) rs146744182 0.00001
NM_080425.4(GNAS):c.475G>A (p.Glu159Lys) rs1135401777 0.00001
NM_080425.4(GNAS):c.98C>A (p.Ala33Asp) rs746548577 0.00001
46;X;t(X;12)(p11.2;q24.33)dn
CDC73, 41-BP DUP/INS
GNAS, 4.7-KB DEL
GNAS, GLN170ALA
GNAS, IVS3AS, A-G, -12
GRCh37/hg19 20q13.32(chr20:57244540-57246216)
NC_000001.10:g.(?_130980840)_(248900000_?)dup
NC_000001.10:g.(?_193091321)_(193219852_?)dup
NC_000001.10:g.(?_193091331)_(193099383_?)dup
NC_000001.10:g.(?_193091331)_(193111206_?)dup
NC_000001.10:g.(?_193091331)_(193121594_?)del
NC_000001.10:g.(?_193091331)_(193172992_?)del
NC_000001.10:g.(?_193094232)_(193094357_?)del
NC_000001.10:g.(?_193094232)_(193219842_?)dup
NC_000001.10:g.(?_193094317)_(193111354_?)del
NC_000001.10:g.(?_193099294)_(193111206_?)del
NC_000001.10:g.(?_193099298)_(193099379_?)del
NC_000001.10:g.(?_193104511)_(193104729_?)del
NC_000001.10:g.(?_193104511)_(193121584_?)dup
NC_000001.10:g.(?_193110960)_(193219842_?)dup
NC_000001.10:g.(?_193110974)_(193219848_?)dup
NC_000001.10:g.(?_193172905)_(193219842_?)dup
NC_000001.10:g.(?_193172915)_(193172992_?)del
NC_000001.10:g.(?_193172915)_(193219842_?)dup
NC_000001.10:g.(?_193172919)_(193205492_?)dup
NC_000001.10:g.(?_193172925)_(193205486_?)dup
NC_000001.10:g.(?_193172925)_(193223945_?)dup
NC_000001.10:g.(?_193181185)_(193181617_?)del
NC_000001.10:g.(?_193181185)_(193219842_?)del
NC_000001.10:g.(?_193181185)_(193219842_?)dup
NC_000001.10:g.(?_193202113)_(193205496_?)del
NC_000001.10:g.(?_193202113)_(193219842_?)del
NC_000001.10:g.(?_193202113)_(193219842_?)dup
NC_000001.10:g.(?_193218850)_(193219852_?)dup
NC_000001.11:g.(?_193122191)_(193122341_?)del
NC_000001.11:g.(?_193122191)_(193125227_?)del
NC_000001.11:g.(?_193122191)_(193150392_?)del
NC_000001.11:g.(?_193122191)_(193152454_?)del
NC_000001.11:g.(?_193122191)_(193152454_?)dup
NC_000001.11:g.(?_193122191)_(193250722_?)del
NC_000001.11:g.(?_193122201)_(193125227_?)del
NC_000001.11:g.(?_193122201)_(193125227_?)dup
NC_000001.11:g.(?_193122201)_(193152454_?)dup
NC_000001.11:g.(?_193122201)_(193250712_?)del
NC_000001.11:g.(?_193122201)_(193250712_?)dup
NC_000001.11:g.(?_193125102)_(193130253_?)del
NC_000001.11:g.(?_193130168)_(193135595_?)del
NC_000001.11:g.(?_193130174)_(193130243_?)del
NC_000001.11:g.(?_193135381)_(193138183_?)del
NC_000001.11:g.(?_193141840)_(193250722_?)dup
NC_000001.11:g.(?_193147857)_(193152454_?)del
NC_000001.11:g.(?_193203785)_(193250722_?)dup
NC_000001.11:g.(?_193236246)_(193236366_?)del
NC_000001.11:g.(?_193249724)_(193250718_?)del
NC_000003.11:g.(?_121489192)_(125313644_?)dup
NC_000003.11:g.(?_121973037)_(121973231_?)dup
NC_000003.11:g.(?_121973037)_(122004038_?)del
NC_000003.11:g.(?_121980355)_(121981279_?)del
NC_000003.11:g.(?_121994639)_(122060414_?)del
NC_000003.12:g.(?_122254180)_(122285201_?)dup
NC_000003.12:g.(?_122282103)_(122285191_?)del
NC_000011.10:g.(?_64803514)_(64804816_?)del
NC_000011.10:g.(?_64803514)_(64810132_?)del
NC_000011.10:g.(?_64804324)_(64810716_?)del
NC_000011.10:g.(?_64804334)_(64810716_?)del
NC_000011.10:g.(?_64804334)_(64810716_?)dup
NC_000011.10:g.(?_64809655)_(64810716_?)del
NC_000011.10:g.(?_64809655)_(64810716_?)dup
NC_000011.10:g.(?_64809659)_(64810115_?)del
NC_000011.10:g.64804807_64804818del rs760199250
NC_000011.10:g.64806369del rs1941733228
NC_000011.9:g.(?_63731700)_(64572142_?)del
NC_000011.9:g.(?_64550219)_(64573119_?)del
NC_000011.9:g.(?_64567607)_(64572007_?)del
NC_000011.9:g.(?_64570260)_(64572077_?)del
NC_000011.9:g.(?_64571796)_(64572298_?)del
NC_000011.9:g.(?_64571806)_(64575581_?)del
NC_000011.9:g.(?_64572175)_(64575826_?)del
NC_000011.9:g.(?_64572622)_(64586228_?)del
NC_000011.9:g.(?_64573097)_(64575581_?)del
NC_000011.9:g.(?_64573385)_(64575394_?)del
NC_000011.9:g.(?_64574479)_(64584006_?)del
NC_000011.9:g.(?_64575120)_(64576450_?)del
NC_000011.9:g.(?_64575343)_(64578188_?)del
NC_000011.9:g.(?_64577559)_(64578852_?)del
NC_000011.9:g.(?_64578102)_(64578188_?)del
NC_000021.8:g.(?_45629566)_(45711113_?)dup
NC_000021.8:g.(?_45629566)_(46330717_?)dup
NC_000021.8:g.(?_45705869)_(45711113_?)del
NC_000021.8:g.(?_45705870)_(45707494_?)del
NC_000021.8:g.(?_45705870)_(45711113_?)del
NC_000021.8:g.(?_45705880)_(45707026_?)del
NC_000021.8:g.(?_45705880)_(45711103_?)del
NC_000021.8:g.(?_45709520)_(45759077_?)dup
NC_000021.8:g.(?_45709640)_(45714378_?)del
NC_000021.8:g.(?_45713652)_(45717630_?)dup
NC_000021.8:g.(?_45716246)_(45717610_?)del
NC_000021.8:g.(?_45717519)_(45717610_?)dup
NC_000021.9:g.(?_44285987)_(44297747_?)del
NC_000021.9:g.(?_44297636)_(44297747_?)dup
NC_000021.9:g.44288345_44288346del
NG_008970.1:g.3172_(10967_10971)del
NG_016194.2:g.[6012_6117gom;19440_19569lom]
NM_000051.4(ATM):c.7381C>A (p.Arg2461Ser)
NM_000244.4(MEN1):c.-35A>C rs679946
NM_000244.4(MEN1):c.-35A>T rs679946
NM_000315.4(PTH):c.-33C>T rs745726399
NM_000315.4(PTH):c.-83T>C rs886048030
NM_000315.4(PTH):c.123C>A (p.Asn41Lys) rs755183877
NM_000315.4(PTH):c.191A>G (p.Asn64Ser) rs1370035454
NM_000315.4(PTH):c.247C>T (p.Arg83Ter) rs6256
NM_000315.4(PTH):c.52T>C (p.Cys18Arg) rs104894271
NM_000315.4(PTH):c.67T>C (p.Ser23Pro) rs104894272
NM_000315.4(PTH):c.86+1G>C rs2134093224
NM_000315.4(PTH):c.86+4_86+7del
NM_000315.4(PTH):c.98T>A (p.Val33Glu)
NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu) rs2107040144
NM_000383.3(AIRE):c.-653_-649dup rs1555871683
NM_000383.3(AIRE):c.-656_-655insCCC rs1016179869
NM_000383.3:c.995+(3_5)delGAGinsTAT
NM_000383.4(AIRE):c.-17_27del (p.Met1fs) rs2040477031
NM_000383.4(AIRE):c.-24_1del (p.Met1fs) rs1555871766
NM_000383.4(AIRE):c.-4C>A rs1004208577
NM_000383.4(AIRE):c.1001C>A (p.Thr334Asn)
NM_000383.4(AIRE):c.1002C>G (p.Thr334=) rs2146382261
NM_000383.4(AIRE):c.1002del (p.Trp335fs) rs769305771
NM_000383.4(AIRE):c.1008G>A (p.Arg336=) rs2146382269
NM_000383.4(AIRE):c.1010G>T (p.Cys337Phe)
NM_000383.4(AIRE):c.1012T>C (p.Ser338Pro)
NM_000383.4(AIRE):c.1017C>G (p.Ser339Arg)
NM_000383.4(AIRE):c.1017C>T (p.Ser339=) rs2040549304
NM_000383.4(AIRE):c.1020C>T (p.Cys340=)
NM_000383.4(AIRE):c.1023G>T (p.Leu341=) rs1352758309
NM_000383.4(AIRE):c.1026G>A (p.Gln342=)
NM_000383.4(AIRE):c.102C>A (p.Asp34Glu)
NM_000383.4(AIRE):c.102C>T (p.Asp34=)
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
NM_000383.4(AIRE):c.1035C>G (p.Val345=) rs1480626384
NM_000383.4(AIRE):c.1044G>T (p.Val348=)
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
NM_000383.4(AIRE):c.1049C>G (p.Pro350Arg) rs1013117342
NM_000383.4(AIRE):c.1051C>G (p.Arg351Gly) rs149078622
NM_000383.4(AIRE):c.1051C>T (p.Arg351Trp)
NM_000383.4(AIRE):c.1052G>A (p.Arg351Gln)
NM_000383.4(AIRE):c.1054_1068del (p.Ala352_Arg356del) rs1481102287
NM_000383.4(AIRE):c.1054_1068dup (p.Ala352_Arg356dup) rs1481102287
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
NM_000383.4(AIRE):c.1062G>A (p.Glu354=) rs867985822
NM_000383.4(AIRE):c.1064C>T (p.Pro355Leu)
NM_000383.4(AIRE):c.1065_1079del (p.Arg356_Pro360del) rs1555872876
NM_000383.4(AIRE):c.1066C>A (p.Arg356=)
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1071C>T (p.Pro357=)
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
NM_000383.4(AIRE):c.1078_1089del (p.Pro360_Glu363del) rs1555872881
NM_000383.4(AIRE):c.107del (p.Asp36fs)
NM_000383.4(AIRE):c.1083C>G (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1084G>A (p.Val362Met) rs763954225
NM_000383.4(AIRE):c.1084G>T (p.Val362Leu) rs763954225
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1086G>A (p.Val362=)
NM_000383.4(AIRE):c.1089G>A (p.Glu363=) rs1317375627
NM_000383.4(AIRE):c.1089G>T (p.Glu363Asp)
NM_000383.4(AIRE):c.108C>G (p.Asp36Glu)
NM_000383.4(AIRE):c.1091C>A (p.Thr364Asn) rs757362732
NM_000383.4(AIRE):c.1091C>G (p.Thr364Ser)
NM_000383.4(AIRE):c.1091C>T (p.Thr364Ile) rs757362732
NM_000383.4(AIRE):c.1092C>G (p.Thr364=) rs1367419200
NM_000383.4(AIRE):c.1092C>T (p.Thr364=)
NM_000383.4(AIRE):c.1094_1095delinsTC (p.Pro365Leu)
NM_000383.4(AIRE):c.1095+10C>A rs372932833
NM_000383.4(AIRE):c.1095+16del
NM_000383.4(AIRE):c.1095+18C>T
NM_000383.4(AIRE):c.1095+19C>T
NM_000383.4(AIRE):c.1095+1G>A rs1022025101
NM_000383.4(AIRE):c.1095+1G>C
NM_000383.4(AIRE):c.1095+23_1095+64del rs1037154559
NM_000383.4(AIRE):c.1095+23_1095+64dup
NM_000383.4(AIRE):c.1095+4T>G
NM_000383.4(AIRE):c.1095+78del rs5844181
NM_000383.4(AIRE):c.1095+7C>A rs2146382492
NM_000383.4(AIRE):c.1095G>A (p.Pro365=) rs750688330
NM_000383.4(AIRE):c.1096-10T>C rs2146383145
NM_000383.4(AIRE):c.1096-12C>G
NM_000383.4(AIRE):c.1096-14C>T
NM_000383.4(AIRE):c.1096-20T>C
NM_000383.4(AIRE):c.1096-9G>T
NM_000383.4(AIRE):c.1100C>T (p.Pro367Leu)
NM_000383.4(AIRE):c.1101C>T (p.Pro367=)
NM_000383.4(AIRE):c.1102C>G (p.Pro368Ala) rs768381413
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1111A>C (p.Arg371=) rs2146383235
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs) rs1057516411
NM_000383.4(AIRE):c.1119G>A (p.Ala373=) rs765586915
NM_000383.4(AIRE):c.1121G>T (p.Gly374Val)
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
NM_000383.4(AIRE):c.1122A>C (p.Gly374=)
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
NM_000383.4(AIRE):c.1124A>G (p.Glu375Gly)
NM_000383.4(AIRE):c.1125G>A (p.Glu375=) rs1601969062
NM_000383.4(AIRE):c.1128G>C (p.Glu376Asp)
NM_000383.4(AIRE):c.1136G>A (p.Gly379Asp)
NM_000383.4(AIRE):c.1137T>C (p.Gly379=)
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs) rs746933095
NM_000383.4(AIRE):c.1146G>C (p.Gly382=) rs2146383342
NM_000383.4(AIRE):c.1149A>G (p.Glu383=) rs779589936
NM_000383.4(AIRE):c.114C>A (p.Val38=) rs1192858868
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs) rs2146375213
NM_000383.4(AIRE):c.1151C>T (p.Pro384Leu) rs1469479088
NM_000383.4(AIRE):c.1152C>A (p.Pro384=) rs2146383355
NM_000383.4(AIRE):c.1152C>T (p.Pro384=)
NM_000383.4(AIRE):c.1153C>T (p.Leu385=) rs748929295
NM_000383.4(AIRE):c.1155A>G (p.Leu385=) rs1391807242
NM_000383.4(AIRE):c.1158C>A (p.Ala386=)
NM_000383.4(AIRE):c.1158C>G (p.Ala386=) rs199555518
NM_000383.4(AIRE):c.1159G>A (p.Gly387Ser)
NM_000383.4(AIRE):c.1167C>T (p.Asp389=)
NM_000383.4(AIRE):c.116C>T (p.Pro39Leu)
NM_000383.4(AIRE):c.1175T>C (p.Leu392Pro)
NM_000383.4(AIRE):c.1179C>G (p.Val393=) rs752897977
NM_000383.4(AIRE):c.117C>G (p.Pro39=) rs1033297636
NM_000383.4(AIRE):c.117del (p.Glu40fs) rs1248788128
NM_000383.4(AIRE):c.1181A>G (p.Tyr394Cys) rs763440543
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter) rs1482020075
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs) rs2146383463
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1195G>T (p.Ala399Ser)
NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)
NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp) rs2040560125
NM_000383.4(AIRE):c.11A>T (p.Asp4Val) rs2146375006
NM_000383.4(AIRE):c.1202C>G (p.Pro401Arg)
NM_000383.4(AIRE):c.1206T>C (p.Ser402=) rs1327799658
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs) rs1555872997
NM_000383.4(AIRE):c.1214C>A (p.Pro405Gln)
NM_000383.4(AIRE):c.1214del (p.Pro405fs) rs2040560523
NM_000383.4(AIRE):c.1215G>T (p.Pro405=) rs72650676
NM_000383.4(AIRE):c.1218G>A (p.Leu406=)
NM_000383.4(AIRE):c.121G>A (p.Asp41Asn)
NM_000383.4(AIRE):c.1220C>G (p.Pro407Arg) rs2146383548
NM_000383.4(AIRE):c.1224G>A (p.Gly408=)
NM_000383.4(AIRE):c.1225C>T (p.Leu409=) rs1264168197
NM_000383.4(AIRE):c.1227G>A (p.Leu409=) rs762289753
NM_000383.4(AIRE):c.122A>G (p.Asp41Gly)
NM_000383.4(AIRE):c.1230C>T (p.Asp410=) rs2146383558
NM_000383.4(AIRE):c.1233del (p.Ser412fs) rs2146383573
NM_000383.4(AIRE):c.1235del (p.Ser412fs)
NM_000383.4(AIRE):c.1239C>T (p.Ala413=) rs2146383603
NM_000383.4(AIRE):c.123C>T (p.Asp41=)
NM_000383.4(AIRE):c.1242G>A (p.Leu414=)
NM_000383.4(AIRE):c.1245C>T (p.His415=)
NM_000383.4(AIRE):c.1248C>A (p.Pro416=) rs74162064
NM_000383.4(AIRE):c.1249C>A (p.Leu417Ile) rs1248107084
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs) rs2146383561
NM_000383.4(AIRE):c.1252C>T (p.Leu418=)
NM_000383.4(AIRE):c.1256G>A (p.Cys419Tyr) rs756933733
NM_000383.4(AIRE):c.1256G>T (p.Cys419Phe) rs756933733
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter) rs2040561421
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs) rs759281545
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
NM_000383.4(AIRE):c.126G>A (p.Lys42=)
NM_000383.4(AIRE):c.1271G>T (p.Gly424Val)
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) rs1601969308
NM_000383.4(AIRE):c.1278+10G>C
NM_000383.4(AIRE):c.1278+12G>A rs371283816
NM_000383.4(AIRE):c.1278+12G>T
NM_000383.4(AIRE):c.1278+13T>C
NM_000383.4(AIRE):c.1278+16G>A
NM_000383.4(AIRE):c.1278+18G>A
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1278+5dup rs2146383693
NM_000383.4(AIRE):c.1278+7G>A rs564103678
NM_000383.4(AIRE):c.1278+7G>C
NM_000383.4(AIRE):c.1278+8G>A
NM_000383.4(AIRE):c.1279-12T>G
NM_000383.4(AIRE):c.1279-17G>A
NM_000383.4(AIRE):c.1279-20C>G
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1279-4A>G
NM_000383.4(AIRE):c.1279-5C>A
NM_000383.4(AIRE):c.1279-9C>T rs371186900
NM_000383.4(AIRE):c.1285G>T (p.Ala429Ser)
NM_000383.4(AIRE):c.1290T>G (p.Pro430=)
NM_000383.4(AIRE):c.1298G>A (p.Arg433His)
NM_000383.4(AIRE):c.1299T>C (p.Arg433=) rs780148497
NM_000383.4(AIRE):c.1299T>G (p.Arg433=)
NM_000383.4(AIRE):c.12C>T (p.Asp4=) rs768696010
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter)
NM_000383.4(AIRE):c.1302C>G (p.Cys434Trp)
NM_000383.4(AIRE):c.1305G>A (p.Gly435=) rs2146384547
NM_000383.4(AIRE):c.1310G>A (p.Cys437Tyr)
NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
NM_000383.4(AIRE):c.1317T>C (p.Asp439=) rs1474485684
NM_000383.4(AIRE):c.1317T>G (p.Asp439Glu)
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)
NM_000383.4(AIRE):c.132+11C>T rs2146375260
NM_000383.4(AIRE):c.132+12G>A
NM_000383.4(AIRE):c.132+12G>C
NM_000383.4(AIRE):c.132+15C>A
NM_000383.4(AIRE):c.132+15C>G
NM_000383.4(AIRE):c.132+15C>T rs780730527
NM_000383.4(AIRE):c.132+16G>C rs1272044102
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.132+22del
NM_000383.4(AIRE):c.132+2T>C
NM_000383.4(AIRE):c.132+8C>G rs1568926049
NM_000383.4(AIRE):c.132+8C>T
NM_000383.4(AIRE):c.1321A>G (p.Thr441Ala) rs768250058
NM_000383.4(AIRE):c.1323G>C (p.Thr441=)
NM_000383.4(AIRE):c.1327G>C (p.Val443Leu)
NM_000383.4(AIRE):c.1329G>T (p.Val443=) rs370017667
NM_000383.4(AIRE):c.133-126_539-180del
NM_000383.4(AIRE):c.133-14C>A
NM_000383.4(AIRE):c.133-15G>A
NM_000383.4(AIRE):c.133-16T>C
NM_000383.4(AIRE):c.133-18C>T
NM_000383.4(AIRE):c.133-20C>T
NM_000383.4(AIRE):c.133-4G>A
NM_000383.4(AIRE):c.133-6C>T
NM_000383.4(AIRE):c.133-8C>T rs753084849
NM_000383.4(AIRE):c.133-9C>T
NM_000383.4(AIRE):c.1330C>T (p.Leu444=) rs1221626097
NM_000383.4(AIRE):c.1332G>T (p.Leu444=)
NM_000383.4(AIRE):c.1335G>C (p.Arg445=)
NM_000383.4(AIRE):c.1336T>G (p.Cys446Gly) rs1555873106
NM_000383.4(AIRE):c.1341T>C (p.Thr447=) rs2040573330
NM_000383.4(AIRE):c.1344C>G (p.His448Gln) rs201131119
NM_000383.4(AIRE):c.1350C>A (p.Ala450=)
NM_000383.4(AIRE):c.1351G>A (p.Ala451Thr)
NM_000383.4(AIRE):c.1353T>C (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1353T>G (p.Ala451=) rs781502496
NM_000383.4(AIRE):c.1354G>A (p.Ala452Thr) rs1480139411
NM_000383.4(AIRE):c.135G>A (p.Glu45=)
NM_000383.4(AIRE):c.1362C>T (p.His454=) rs2146384697
NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter)
NM_000383.4(AIRE):c.1366C>T (p.Arg456Cys)
NM_000383.4(AIRE):c.1368C>T (p.Arg456=) rs2146384725
NM_000383.4(AIRE):c.136A>T (p.Thr46Ser) rs2146375707
NM_000383.4(AIRE):c.1373A>G (p.His458Arg) rs1601969955
NM_000383.4(AIRE):c.1380A>C (p.Pro460=)
NM_000383.4(AIRE):c.1383C>G (p.Ala461=)
NM_000383.4(AIRE):c.1384G>A (p.Gly462Ser)
NM_000383.4(AIRE):c.1384G>C (p.Gly462Arg)
NM_000383.4(AIRE):c.1386C>T (p.Gly462=)
NM_000383.4(AIRE):c.1387A>T (p.Thr463Ser)
NM_000383.4(AIRE):c.1389C>T (p.Thr463=) rs1464240052
NM_000383.4(AIRE):c.1391C>T (p.Ser464Phe) rs559428418
NM_000383.4(AIRE):c.1392C>G (p.Ser464=) rs759575621
NM_000383.4(AIRE):c.1393C>T (p.Arg465Trp)
NM_000383.4(AIRE):c.1394G>C (p.Arg465Pro)
NM_000383.4(AIRE):c.1395G>A (p.Arg465=)
NM_000383.4(AIRE):c.1396C>T (p.Pro466Ser) rs1411629170
NM_000383.4(AIRE):c.1398C>A (p.Pro466=)
NM_000383.4(AIRE):c.1398dup (p.Gly467fs)
NM_000383.4(AIRE):c.1399G>A (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.1399G>C (p.Gly467Arg) rs202018301
NM_000383.4(AIRE):c.13G>A (p.Ala5Thr)
NM_000383.4(AIRE):c.13_14delinsTT (p.Ala5Leu) rs2146375021
NM_000383.4(AIRE):c.1400+10C>A rs372277949
NM_000383.4(AIRE):c.1400+11G>A
NM_000383.4(AIRE):c.1400+12T>C rs563869880
NM_000383.4(AIRE):c.1400+15T>A
NM_000383.4(AIRE):c.1400+16C>T
NM_000383.4(AIRE):c.1400+17G>T
NM_000383.4(AIRE):c.1400+19C>A
NM_000383.4(AIRE):c.1400+1G>A rs1469386000
NM_000383.4(AIRE):c.1400+20G>A
NM_000383.4(AIRE):c.1400+2T>C
NM_000383.4(AIRE):c.1400+4A>C rs2040574937
NM_000383.4(AIRE):c.1400+6T>A
NM_000383.4(AIRE):c.1400+9G>A rs2146384820
NM_000383.4(AIRE):c.1400G>C (p.Gly467Ala)
NM_000383.4(AIRE):c.1401-10T>G
NM_000383.4(AIRE):c.1401-16T>G
NM_000383.4(AIRE):c.1401-18C>T
NM_000383.4(AIRE):c.1401-19C>A
NM_000383.4(AIRE):c.1401-1G>A
NM_000383.4(AIRE):c.1401-28G>A rs1800526
NM_000383.4(AIRE):c.1401-4G>A rs2146385724
NM_000383.4(AIRE):c.1401-5T>C rs1206047355
NM_000383.4(AIRE):c.1401-5T>G
NM_000383.4(AIRE):c.1401-8T>C
NM_000383.4(AIRE):c.1401-9C>G
NM_000383.4(AIRE):c.1401G>T (p.Gly467=)
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>T (p.Thr468=)
NM_000383.4(AIRE):c.1406del (p.Gly469fs) rs2146385757
NM_000383.4(AIRE):c.1408C>T (p.Leu470=)
NM_000383.4(AIRE):c.1409T>C (p.Leu470Pro)
NM_000383.4(AIRE):c.1412G>A (p.Arg471His)
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
NM_000383.4(AIRE):c.1415G>A (p.Cys472Tyr)
NM_000383.4(AIRE):c.1417A>C (p.Arg473=) rs2146385780
NM_000383.4(AIRE):c.1418G>C (p.Arg473Thr) rs750662701
NM_000383.4(AIRE):c.1422C>G (p.Ser474=)
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter) rs866898746
NM_000383.4(AIRE):c.1435G>A (p.Val479Met)
NM_000383.4(AIRE):c.1435G>T (p.Val479Leu)
NM_000383.4(AIRE):c.1438A>G (p.Thr480Ala)
NM_000383.4(AIRE):c.143_145del (p.His48del) rs1601964364
NM_000383.4(AIRE):c.1440C>A (p.Thr480=) rs1402478750
NM_000383.4(AIRE):c.1443A>G (p.Pro481=) rs2146385828
NM_000383.4(AIRE):c.1447C>A (p.Pro483Thr) rs780816581
NM_000383.4(AIRE):c.1447C>G (p.Pro483Ala)
NM_000383.4(AIRE):c.1448C>G (p.Pro483Arg) rs2146385840
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
NM_000383.4(AIRE):c.1451T>C (p.Val484Ala)
NM_000383.4(AIRE):c.1452G>T (p.Val484=) rs2146385848
NM_000383.4(AIRE):c.1458G>T (p.Gly486=)
NM_000383.4(AIRE):c.1460T>C (p.Val487Ala)
NM_000383.4(AIRE):c.1464G>A (p.Leu488=) rs2146385885
NM_000383.4(AIRE):c.1464G>T (p.Leu488=)
NM_000383.4(AIRE):c.1466C>T (p.Ala489Val) rs2146385893
NM_000383.4(AIRE):c.1468C>T (p.Pro490Ser)
NM_000383.4(AIRE):c.1470_1490del (p.Ser491_Pro497del)
NM_000383.4(AIRE):c.1470dup (p.Ser491fs) rs1555873248
NM_000383.4(AIRE):c.1473C>T (p.Ser491=) rs761718813
NM_000383.4(AIRE):c.1474C>G (p.Pro492Ala)
NM_000383.4(AIRE):c.1476C>A (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1478C>G (p.Ala493Gly)
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1481G>T (p.Arg494Leu) rs528762050
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.1491T>C (p.Pro497=) rs528761924
NM_000383.4(AIRE):c.1497T>C (p.Pro499=)
NM_000383.4(AIRE):c.1497T>G (p.Pro499=) rs926723773
NM_000383.4(AIRE):c.1497del (p.Ala500fs)
NM_000383.4(AIRE):c.149A>G (p.Lys50Arg)
NM_000383.4(AIRE):c.14_15del (p.Ala5fs) rs2146375012
NM_000383.4(AIRE):c.1503+10G>C
NM_000383.4(AIRE):c.1503+11C>T
NM_000383.4(AIRE):c.1503+13G>T
NM_000383.4(AIRE):c.1503+14G>A
NM_000383.4(AIRE):c.1503+16G>T
NM_000383.4(AIRE):c.1503+17C>T
NM_000383.4(AIRE):c.1503+18C>T
NM_000383.4(AIRE):c.1503+1G>A
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1503+9C>A
NM_000383.4(AIRE):c.1504-13T>A
NM_000383.4(AIRE):c.1504-14_1504-13del
NM_000383.4(AIRE):c.1504-17T>C
NM_000383.4(AIRE):c.1504-18C>T
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_000383.4(AIRE):c.1505A>T (p.Asp502Val) rs1444691231
NM_000383.4(AIRE):c.1512T>C (p.Thr504=) rs2040607807
NM_000383.4(AIRE):c.1513del (p.Ala505fs) rs387906294
NM_000383.4(AIRE):c.1515C>A (p.Ala505=)
NM_000383.4(AIRE):c.1517G>T (p.Ser506Ile)
NM_000383.4(AIRE):c.1521C>T (p.His507=) rs751968210
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1525C>T (p.Pro509Ser) rs999281375
NM_000383.4(AIRE):c.1528G>A (p.Ala510Thr)
NM_000383.4(AIRE):c.1528G>C (p.Ala510Pro)
NM_000383.4(AIRE):c.1537A>G (p.Arg513Gly)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1545C>T (p.Asp515=) rs2146388098
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter) rs2040608439
NM_000383.4(AIRE):c.1553C>T (p.Ser518Phe)
NM_000383.4(AIRE):c.1554C>G (p.Ser518=)
NM_000383.4(AIRE):c.1554C>T (p.Ser518=) rs1432714738
NM_000383.4(AIRE):c.1555C>T (p.Leu519Phe)
NM_000383.4(AIRE):c.1558C>T (p.Leu520=)
NM_000383.4(AIRE):c.1563C>A (p.Ser521Arg) rs746873146
NM_000383.4(AIRE):c.1564G>A (p.Glu522Lys)
NM_000383.4(AIRE):c.1566+12C>A
NM_000383.4(AIRE):c.1566+12C>T
NM_000383.4(AIRE):c.1566+12_1566+13del
NM_000383.4(AIRE):c.1566+13C>T
NM_000383.4(AIRE):c.1566+14T>G
NM_000383.4(AIRE):c.1566+15G>A rs2040609241
NM_000383.4(AIRE):c.1566+18C>T
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.1566+2dup rs1057516811
NM_000383.4(AIRE):c.1566+4A>G
NM_000383.4(AIRE):c.1566+5C>T
NM_000383.4(AIRE):c.1566+6G>A
NM_000383.4(AIRE):c.1566+7C>A rs2146388160
NM_000383.4(AIRE):c.1566+9T>A rs2146388175
NM_000383.4(AIRE):c.1567-10T>C
NM_000383.4(AIRE):c.1567-17_1567-15dup rs2146389783
NM_000383.4(AIRE):c.1567-1G>A rs1601973101
NM_000383.4(AIRE):c.1567-2A>G rs1555873650
NM_000383.4(AIRE):c.1575C>T (p.Phe525=) rs1399845704
NM_000383.4(AIRE):c.1578_1579inv (p.Gly527Ser)
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1581C>A (p.Gly527=)
NM_000383.4(AIRE):c.1587G>A (p.Leu529=) rs779142964
NM_000383.4(AIRE):c.1588C>T (p.Gln530Ter) rs1472708073
NM_000383.4(AIRE):c.1595C>T (p.Ala532Val)
NM_000383.4(AIRE):c.159G>A (p.Glu53=) rs1413552217
NM_000383.4(AIRE):c.15G>T (p.Ala5=)
NM_000383.4(AIRE):c.1605C>A (p.Ser535Arg) rs2146389859
NM_000383.4(AIRE):c.1608G>T (p.Met536Ile)
NM_000383.4(AIRE):c.1609G>C (p.Ala537Pro)
NM_000383.4(AIRE):c.1612del (p.Arg538fs) rs1555873662
NM_000383.4(AIRE):c.1613G>A (p.Arg538His)
NM_000383.4(AIRE):c.1615C>A (p.Pro539Thr)
NM_000383.4(AIRE):c.162C>G (p.Gly54=)
NM_000383.4(AIRE):c.1630C>A (p.Pro544Thr)
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.167C>T (p.Pro56Leu) rs2040484477
NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly) rs747941115
NM_000383.4(AIRE):c.174C>G (p.Ala58=)
NM_000383.4(AIRE):c.177C>T (p.Phe59=) rs2146375781
NM_000383.4(AIRE):c.181G>A (p.Ala61Thr)
NM_000383.4(AIRE):c.186C>G (p.Leu62=)
NM_000383.4(AIRE):c.186C>T (p.Leu62=)
NM_000383.4(AIRE):c.187C>A (p.Leu63Met)
NM_000383.4(AIRE):c.190_226del (p.Ser64fs)
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs) rs2146375818
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.202A>G (p.Thr68Ala)
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter) rs2146375836
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del)
NM_000383.4(AIRE):c.20_24del (p.Leu7fs) rs1555871777
NM_000383.4(AIRE):c.21A>C (p.Leu7=)
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
NM_000383.4(AIRE):c.228C>T (p.Asp76=)
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.4(AIRE):c.236G>C (p.Arg79Thr)
NM_000383.4(AIRE):c.237G>A (p.Arg79=)
NM_000383.4(AIRE):c.238G>A (p.Val80Met)
NM_000383.4(AIRE):c.239T>G (p.Val80Gly) rs267606642
NM_000383.4(AIRE):c.23G>A (p.Arg8His)
NM_000383.4(AIRE):c.240G>A (p.Val80=)
NM_000383.4(AIRE):c.241C>T (p.Leu81=)
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.249G>A (p.Lys83=) rs2146375874
NM_000383.4(AIRE):c.24C>G (p.Arg8=)
NM_000383.4(AIRE):c.253_255del (p.Tyr85del) rs2146375885
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.4(AIRE):c.259C>T (p.Leu87=)
NM_000383.4(AIRE):c.25C>T (p.Arg9Trp) rs1942959342
NM_000383.4(AIRE):c.260T>C (p.Leu87Pro) rs2040485564
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
NM_000383.4(AIRE):c.266G>A (p.Arg89His) rs762267080
NM_000383.4(AIRE):c.266G>T (p.Arg89Leu)
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.273C>T (p.Gly91=)
NM_000383.4(AIRE):c.277C>T (p.Leu93=)
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.27G>T (p.Arg9=)
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
NM_000383.4(AIRE):c.282G>A (p.Gln94=) rs776836665
NM_000383.4(AIRE):c.283C>T (p.Pro95Ser)
NM_000383.4(AIRE):c.285C>T (p.Pro95=)
NM_000383.4(AIRE):c.286A>C (p.Ile96Leu) rs2146375950
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro) rs2146375951
NM_000383.4(AIRE):c.291G>A (p.Leu97=)
NM_000383.4(AIRE):c.294C>T (p.Asp98=) rs2146375955
NM_000383.4(AIRE):c.297C>T (p.Ser99=)
NM_000383.4(AIRE):c.2T>A (p.Met1Lys) rs2146374989
NM_000383.4(AIRE):c.2T>C (p.Met1Thr)
NM_000383.4(AIRE):c.2T>G (p.Met1Arg) rs2146374989
NM_000383.4(AIRE):c.303C>T (p.Pro101=)
NM_000383.4(AIRE):c.307+10G>T
NM_000383.4(AIRE):c.307+11G>A
NM_000383.4(AIRE):c.307+17T>C
NM_000383.4(AIRE):c.307+18C>T rs562210054
NM_000383.4(AIRE):c.307+2T>G rs2146375964
NM_000383.4(AIRE):c.307+9_307+10delinsAT rs2146375974
NM_000383.4(AIRE):c.308-11C>G
NM_000383.4(AIRE):c.308-14_308-9dup
NM_000383.4(AIRE):c.308-18C>T
NM_000383.4(AIRE):c.308-3C>T
NM_000383.4(AIRE):c.308-6C>T
NM_000383.4(AIRE):c.308-7G>T
NM_000383.4(AIRE):c.310G>A (p.Val104Met)
NM_000383.4(AIRE):c.312G>A (p.Val104=)
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs) rs1555871928
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) rs1472808103
NM_000383.4(AIRE):c.324G>A (p.Gln108=)
NM_000383.4(AIRE):c.325C>G (p.Pro109Ala)
NM_000383.4(AIRE):c.326C>T (p.Pro109Leu)
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.329G>A (p.Arg110Gln)
NM_000383.4(AIRE):c.332A>C (p.Lys111Thr)
NM_000383.4(AIRE):c.333G>A (p.Lys111=)
NM_000383.4(AIRE):c.336G>A (p.Gly112=)
NM_000383.4(AIRE):c.336G>T (p.Gly112=)
NM_000383.4(AIRE):c.339G>A (p.Arg113=) rs2040488791
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter) rs2146376221
NM_000383.4(AIRE):c.347del (p.Pro116fs) rs1568926472
NM_000383.4(AIRE):c.348G>C (p.Pro116=) rs74162060
NM_000383.4(AIRE):c.348G>T (p.Pro116=)
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.354C>A (p.Val118=) rs528667089
NM_000383.4(AIRE):c.354C>T (p.Val118=) rs528667089
NM_000383.4(AIRE):c.355C>A (p.Pro119Thr)
NM_000383.4(AIRE):c.364T>C (p.Leu122=)
NM_000383.4(AIRE):c.36del (p.Arg12fs) rs2146375064
NM_000383.4(AIRE):c.375A>G (p.Pro125=) rs2146376299
NM_000383.4(AIRE):c.378C>T (p.Pro126=)
NM_000383.4(AIRE):c.384C>T (p.Leu128=) rs2146376310
NM_000383.4(AIRE):c.387C>T (p.Pro129=) rs762735482
NM_000383.4(AIRE):c.390C>A (p.Thr130=) rs2040489548
NM_000383.4(AIRE):c.390C>T (p.Thr130=)
NM_000383.4(AIRE):c.402C>T (p.Ala134=) rs2146376334
NM_000383.4(AIRE):c.415C>G (p.Arg139Gly)
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.416G>C (p.Arg139Pro) rs201965760
NM_000383.4(AIRE):c.41A>C (p.His14Pro)
NM_000383.4(AIRE):c.420T>C (p.Ala140=) rs2146376372
NM_000383.4(AIRE):c.423C>A (p.Ala141=)
NM_000383.4(AIRE):c.425C>T (p.Ala142Val)
NM_000383.4(AIRE):c.42C>T (p.His14=) rs2146375067
NM_000383.4(AIRE):c.438G>A (p.Leu146=) rs2146376401
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly) rs179363875
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.440C>T (p.Thr147Ile)
NM_000383.4(AIRE):c.443C>T (p.Pro148Leu)
NM_000383.4(AIRE):c.444A>C (p.Pro148=) rs2146376404
NM_000383.4(AIRE):c.449del (p.Gly150fs)
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.453C>A (p.Thr151=)
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) rs1057516314
NM_000383.4(AIRE):c.45C>T (p.Arg15=)
NM_000383.4(AIRE):c.461C>T (p.Pro154Leu)
NM_000383.4(AIRE):c.463+10C>T
NM_000383.4(AIRE):c.463+12G>T
NM_000383.4(AIRE):c.463+13C>A
NM_000383.4(AIRE):c.463+5C>A
NM_000383.4(AIRE):c.463+5C>T rs569224551
NM_000383.4(AIRE):c.463+6C>G rs2146376456
NM_000383.4(AIRE):c.463+7del
NM_000383.4(AIRE):c.464-16C>T
NM_000383.4(AIRE):c.464-16del
NM_000383.4(AIRE):c.464-17C>T
NM_000383.4(AIRE):c.464-20C>T
NM_000383.4(AIRE):c.464-2A>T rs1032171597
NM_000383.4(AIRE):c.464-6A>C
NM_000383.4(AIRE):c.464-7C>A
NM_000383.4(AIRE):c.464-7C>T rs768310786
NM_000383.4(AIRE):c.464-8C>G rs1254160382
NM_000383.4(AIRE):c.467C>T (p.Ser156Phe)
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
NM_000383.4(AIRE):c.46_63dup (p.Thr16_Ala21dup) rs2040477781
NM_000383.4(AIRE):c.471A>G (p.Gln157=)
NM_000383.4(AIRE):c.472C>T (p.Leu158=)
NM_000383.4(AIRE):c.473T>C (p.Leu158Pro) rs2040495001
NM_000383.4(AIRE):c.476A>G (p.Lys159Arg)
NM_000383.4(AIRE):c.478G>A (p.Ala160Thr) rs1568926733
NM_000383.4(AIRE):c.47C>G (p.Thr16Arg)
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter) rs2040495130
NM_000383.4(AIRE):c.481_486del (p.Lys161_Pro162del)
NM_000383.4(AIRE):c.483G>A (p.Lys161=) rs2040495155
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
NM_000383.4(AIRE):c.488C>T (p.Pro163Leu)
NM_000383.4(AIRE):c.489del (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.489dup (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.48G>C (p.Thr16=) rs2146375080
NM_000383.4(AIRE):c.491A>G (p.Lys164Arg)
NM_000383.4(AIRE):c.494A>G (p.Lys165Arg)
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
NM_000383.4(AIRE):c.507C>G (p.Ser169Arg)
NM_000383.4(AIRE):c.508G>A (p.Ala170Thr)
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs) rs1179261094
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) rs940485051
NM_000383.4(AIRE):c.512_516dup (p.Gln173fs) rs1555872060
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.519G>A (p.Gln173=) rs2146376946
NM_000383.4(AIRE):c.520C>G (p.Arg174Gly) rs752687905
NM_000383.4(AIRE):c.524T>C (p.Leu175Pro) rs972262344
NM_000383.4(AIRE):c.527C>T (p.Pro176Leu) rs375658223
NM_000383.4(AIRE):c.531C>A (p.Leu177=)
NM_000383.4(AIRE):c.537C>T (p.Asn179=)
NM_000383.4(AIRE):c.538+10G>T
NM_000383.4(AIRE):c.538+14A>C
NM_000383.4(AIRE):c.538+9G>T
NM_000383.4(AIRE):c.539-14G>A
NM_000383.4(AIRE):c.539-15T>C
NM_000383.4(AIRE):c.539-17G>A
NM_000383.4(AIRE):c.539-18G>A
NM_000383.4(AIRE):c.539-20A>G
NM_000383.4(AIRE):c.539-2A>G rs2146377702
NM_000383.4(AIRE):c.539-6T>G
NM_000383.4(AIRE):c.539-8T>C
NM_000383.4(AIRE):c.539-9C>A
NM_000383.4(AIRE):c.539-9C>T rs757848836
NM_000383.4(AIRE):c.539_540delinsAT (p.Gly180Asp) rs2146377706
NM_000383.4(AIRE):c.545A>C (p.Gln182Pro) rs2040502920
NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
NM_000383.4(AIRE):c.550A>G (p.Met184Val) rs2146377723
NM_000383.4(AIRE):c.551T>C (p.Met184Thr)
NM_000383.4(AIRE):c.55G>A (p.Ala19Thr) rs1555871798
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter) rs143952576
NM_000383.4(AIRE):c.564C>A (p.Val188=) rs201650973
NM_000383.4(AIRE):c.580A>G (p.Met194Val)
NM_000383.4(AIRE):c.581T>C (p.Met194Thr) rs1351412367
NM_000383.4(AIRE):c.599dup (p.Ala202fs) rs1213326298
NM_000383.4(AIRE):c.600G>C (p.Pro200=)
NM_000383.4(AIRE):c.603A>G (p.Gly201=)
NM_000383.4(AIRE):c.615C>G (p.Ala205=) rs143784684
NM_000383.4(AIRE):c.616G>A (p.Val206Met)
NM_000383.4(AIRE):c.619G>A (p.Glu207Lys)
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
NM_000383.4(AIRE):c.61del (p.Ala21fs)
NM_000383.4(AIRE):c.621G>A (p.Glu207=)
NM_000383.4(AIRE):c.637C>G (p.Gln213Glu) rs1029475010
NM_000383.4(AIRE):c.63C>A (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.63C>G (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.640G>A (p.Val214Met) rs369232026
NM_000383.4(AIRE):c.645T>C (p.Phe215=)
NM_000383.4(AIRE):c.652+12G>A
NM_000383.4(AIRE):c.652+18G>A
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.652+6C>T
NM_000383.4(AIRE):c.652+9T>C rs2146377909
NM_000383.4(AIRE):c.653-10C>T rs760848364
NM_000383.4(AIRE):c.653-12A>G
NM_000383.4(AIRE):c.653-13C>T
NM_000383.4(AIRE):c.653-15G>T
NM_000383.4(AIRE):c.653-20C>T
NM_000383.4(AIRE):c.653-8C>T
NM_000383.4(AIRE):c.654C>A (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.654C>T (p.Gly218=) rs146377356
NM_000383.4(AIRE):c.657C>A (p.Gly219=)
NM_000383.4(AIRE):c.657C>T (p.Gly219=) rs2146379141
NM_000383.4(AIRE):c.660C>T (p.Ser220=)
NM_000383.4(AIRE):c.66G>T (p.Val22=)
NM_000383.4(AIRE):c.672C>T (p.Ile224=)
NM_000383.4(AIRE):c.680_681delinsAT (p.Gly227Asp) rs2146379169
NM_000383.4(AIRE):c.681C>G (p.Gly227=) rs1055311
NM_000383.4(AIRE):c.682G>T (p.Gly228Trp) rs121434257
NM_000383.4(AIRE):c.685del (p.Glu229fs)
NM_000383.4(AIRE):c.687G>A (p.Glu229=)
NM_000383.4(AIRE):c.68A>G (p.Asp23Gly) rs2040478254
NM_000383.4(AIRE):c.693C>T (p.Tyr231=) rs1601966572
NM_000383.4(AIRE):c.696T>C (p.Thr232=)
NM_000383.4(AIRE):c.699C>T (p.Pro233=) rs2146379208
NM_000383.4(AIRE):c.708C>T (p.Phe236=) rs908180454
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)
NM_000383.4(AIRE):c.712G>C (p.Asp238His)
NM_000383.4(AIRE):c.713A>C (p.Asp238Ala)
NM_000383.4(AIRE):c.716C>A (p.Ser239Tyr) rs2146379236
NM_000383.4(AIRE):c.717C>G (p.Ser239=) rs149130190
NM_000383.4(AIRE):c.722G>T (p.Ser241Ile)
NM_000383.4(AIRE):c.723T>C (p.Ser241=)
NM_000383.4(AIRE):c.727A>G (p.Lys243Glu) rs2040517102
NM_000383.4(AIRE):c.729G>A (p.Lys243=)
NM_000383.4(AIRE):c.72C>T (p.Ser24=)
NM_000383.4(AIRE):c.733A>G (p.Lys245Glu)
NM_000383.4(AIRE):c.734A>G (p.Lys245Arg)
NM_000383.4(AIRE):c.739C>T (p.Arg247Cys)
NM_000383.4(AIRE):c.741C>A (p.Arg247=) rs1417017303
NM_000383.4(AIRE):c.741C>T (p.Arg247=)
NM_000383.4(AIRE):c.742A>G (p.Ser248Gly)
NM_000383.4(AIRE):c.747C>T (p.Ser249=)
NM_000383.4(AIRE):c.747del (p.Ser249fs) rs2146379302
NM_000383.4(AIRE):c.756G>T (p.Pro252=) rs765738882
NM_000383.4(AIRE):c.759G>A (p.Lys253=) rs2146379321
NM_000383.4(AIRE):c.766G>A (p.Val256Ile) rs753558091
NM_000383.4(AIRE):c.768del (p.Arg257fs)
NM_000383.4(AIRE):c.773C>G (p.Ala258Gly) rs1388835954
NM_000383.4(AIRE):c.774C>T (p.Ala258=) rs2040517869
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
NM_000383.4(AIRE):c.783C>A (p.Ala261=)
NM_000383.4(AIRE):c.783C>T (p.Ala261=) rs777866382
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter) rs2146379356
NM_000383.4(AIRE):c.785A>G (p.Gln262Arg) rs2040517979
NM_000383.4(AIRE):c.789C>G (p.Gly263=)
NM_000383.4(AIRE):c.78C>T (p.Phe26=) rs1443107040
NM_000383.4(AIRE):c.795C>T (p.Ala265=) rs201171818
NM_000383.4(AIRE):c.798+10T>C
NM_000383.4(AIRE):c.798+12_798+21del rs1456310412
NM_000383.4(AIRE):c.798+14C>A
NM_000383.4(AIRE):c.798+14C>T
NM_000383.4(AIRE):c.798+17C>G
NM_000383.4(AIRE):c.798+17C>T
NM_000383.4(AIRE):c.798+19C>G
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.798+8C>T
NM_000383.4(AIRE):c.798C>G (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798C>T (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.798dup (p.Gly267fs)
NM_000383.4(AIRE):c.799-16C>T
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000383.4(AIRE):c.799-6T>C rs2146379591
NM_000383.4(AIRE):c.799-8C>T
NM_000383.4(AIRE):c.804A>G (p.Gly268=) rs2146379604
NM_000383.4(AIRE):c.809_810del (p.Glu270fs) rs1057517268
NM_000383.4(AIRE):c.816G>T (p.Arg272Ser) rs1568927979
NM_000383.4(AIRE):c.817C>T (p.Leu273=) rs372819974
NM_000383.4(AIRE):c.819G>T (p.Leu273=) rs756188438
NM_000383.4(AIRE):c.822C>T (p.Gly274=)
NM_000383.4(AIRE):c.823del (p.Gln275fs) rs764819068
NM_000383.4(AIRE):c.827A>G (p.Gln276Arg)
NM_000383.4(AIRE):c.828G>A (p.Gln276=) rs2146379663
NM_000383.4(AIRE):c.831C>T (p.Gly277=) rs1180944731
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.834C>T (p.Ser278=) rs1800520
NM_000383.4(AIRE):c.837T>C (p.Val279=)
NM_000383.4(AIRE):c.850G>A (p.Ala284Thr) rs1311252316
NM_000383.4(AIRE):c.851C>G (p.Ala284Gly)
NM_000383.4(AIRE):c.852C>T (p.Ala284=)
NM_000383.4(AIRE):c.858C>A (p.Pro286=) rs1314044062
NM_000383.4(AIRE):c.865C>A (p.Pro289Thr)
NM_000383.4(AIRE):c.867C>G (p.Pro289=)
NM_000383.4(AIRE):c.867C>T (p.Pro289=)
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
NM_000383.4(AIRE):c.876C>T (p.His292=)
NM_000383.4(AIRE):c.878del (p.Gln293fs)
NM_000383.4(AIRE):c.879+11A>G rs1601966929
NM_000383.4(AIRE):c.879+14C>T
NM_000383.4(AIRE):c.879+15C>T
NM_000383.4(AIRE):c.879+17C>T
NM_000383.4(AIRE):c.879+20G>A
NM_000383.4(AIRE):c.879+7C>T
NM_000383.4(AIRE):c.879+7_879+8insA
NM_000383.4(AIRE):c.879+8C>A
NM_000383.4(AIRE):c.879+8C>T rs760555624
NM_000383.4(AIRE):c.87G>A (p.Leu29=) rs2146375160
NM_000383.4(AIRE):c.880-11G>A
NM_000383.4(AIRE):c.880-16C>T
NM_000383.4(AIRE):c.880-19C>A
NM_000383.4(AIRE):c.880-19C>T rs768876713
NM_000383.4(AIRE):c.880-20G>A
NM_000383.4(AIRE):c.880-451G>A rs267606153
NM_000383.4(AIRE):c.880-6T>C
NM_000383.4(AIRE):c.880-7G>T rs141955483
NM_000383.4(AIRE):c.880-9C>T
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter) rs2040534254
NM_000383.4(AIRE):c.882G>A (p.Lys294=) rs2146380881
NM_000383.4(AIRE):c.889G>A (p.Asp297Asn) rs2040534355
NM_000383.4(AIRE):c.899C>A (p.Ala300Asp) rs868756561
NM_000383.4(AIRE):c.899C>T (p.Ala300Val) rs868756561
NM_000383.4(AIRE):c.901G>C (p.Val301Leu)
NM_000383.4(AIRE):c.903G>C (p.Val301=) rs1368560349
NM_000383.4(AIRE):c.907C>T (p.Arg303Trp)
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000383.4(AIRE):c.924C>T (p.Leu308=)
NM_000383.4(AIRE):c.925A>G (p.Ile309Val) rs936714310
NM_000383.4(AIRE):c.930C>T (p.Cys310=) rs2146380972
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
NM_000383.4(AIRE):c.93G>C (p.Ala31=)
NM_000383.4(AIRE):c.93_94insT (p.Leu32fs)
NM_000383.4(AIRE):c.946C>G (p.Arg316Gly)
NM_000383.4(AIRE):c.946C>T (p.Arg316Trp)
NM_000383.4(AIRE):c.948G>A (p.Arg316=)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.969G>C (p.Leu323=)
NM_000383.4(AIRE):c.969_975del (p.Ser324fs) rs2146381019
NM_000383.4(AIRE):c.96G>C (p.Leu32=)
NM_000383.4(AIRE):c.977del (p.Pro326fs) rs1057517011
NM_000383.4(AIRE):c.978G>A (p.Pro326=) rs972756453
NM_000383.4(AIRE):c.981C>T (p.Leu327=)
NM_000383.4(AIRE):c.984G>A (p.Arg328=) rs2146381050
NM_000383.4(AIRE):c.985G>A (p.Glu329Lys)
NM_000383.4(AIRE):c.987G>A (p.Glu329=) rs2146381060
NM_000383.4(AIRE):c.995+11_995+18del
NM_000383.4(AIRE):c.995+12C>A
NM_000383.4(AIRE):c.995+12C>T
NM_000383.4(AIRE):c.995+15C>T
NM_000383.4(AIRE):c.995+1G>A
NM_000383.4(AIRE):c.995+1G>C
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458
NM_000383.4(AIRE):c.996-14G>A
NM_000383.4(AIRE):c.996-15T>C
NM_000383.4(AIRE):c.996-1G>A
NM_000383.4(AIRE):c.996-20_996-17del
NM_000383.4(AIRE):c.996-4G>A rs1057104935
NM_000383.4(AIRE):c.996-6G>A rs781400305
NM_000383.4(AIRE):c.996-7C>A rs568895777
NM_000383.4(AIRE):c.996-9C>T
NM_000383.4(AIRE):c.999G>A (p.Gly333=)
NM_000383.4(AIRE):c.999G>T (p.Gly333=) rs1445602810
NM_000383.4(AIRE):c.9G>A (p.Thr3=)
NM_000383.4(AIRE):c.9G>C (p.Thr3=)
NM_000388.4(CASR):c.*1011T>A rs922763349
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-378del rs537119483
NM_000388.4(CASR):c.1002G>A (p.Leu334=) rs2107632694
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.1009G>T (p.Val337Phe) rs770237878
NM_000388.4(CASR):c.1010T>C (p.Val337Ala) rs2107632701
NM_000388.4(CASR):c.1012C>T (p.His338Tyr)
NM_000388.4(CASR):c.1014T>C (p.His338=) rs1553766831
NM_000388.4(CASR):c.1016C>T (p.Pro339Leu) rs2074632633
NM_000388.4(CASR):c.1017C>A (p.Pro339=) rs1465688551
NM_000388.4(CASR):c.1017C>T (p.Pro339=) rs1465688551
NM_000388.4(CASR):c.1018A>G (p.Arg340Gly) rs1060502853
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1020G>A (p.Arg340=)
NM_000388.4(CASR):c.1022A>G (p.Lys341Arg)
NM_000388.4(CASR):c.1024T>C (p.Ser342Pro) rs2074632920
NM_000388.4(CASR):c.1029C>A (p.Val343=)
NM_000388.4(CASR):c.1032C>T (p.His344=) rs2107632776
NM_000388.4(CASR):c.1034A>G (p.Asn345Ser)
NM_000388.4(CASR):c.1034A>T (p.Asn345Ile) rs1390562571
NM_000388.4(CASR):c.1036G>C (p.Gly346Arg)
NM_000388.4(CASR):c.103G>T (p.Gly35Trp)
NM_000388.4(CASR):c.1043C>T (p.Ala348Val) rs1576858988
NM_000388.4(CASR):c.1043_1044delinsAA (p.Ala348Glu) rs2107632802
NM_000388.4(CASR):c.1044C>T (p.Ala348=)
NM_000388.4(CASR):c.1045A>G (p.Lys349Glu) rs1576859001
NM_000388.4(CASR):c.1048G>T (p.Glu350Ter)
NM_000388.4(CASR):c.104G>A (p.Gly35Glu)
NM_000388.4(CASR):c.1050G>A (p.Glu350=)
NM_000388.4(CASR):c.1054T>C (p.Trp352Arg) rs2107632817
NM_000388.4(CASR):c.1054del (p.Trp352fs) rs2107632814
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter) rs2107632822
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala) rs193922419
NM_000388.4(CASR):c.1062A>G (p.Glu354=)
NM_000388.4(CASR):c.1063A>G (p.Thr355Ala) rs1576859014
NM_000388.4(CASR):c.1064C>G (p.Thr355Arg)
NM_000388.4(CASR):c.1071C>T (p.Asn357=)
NM_000388.4(CASR):c.1074C>T (p.Cys358=) rs886044221
NM_000388.4(CASR):c.1076A>G (p.His359Arg) rs1576859031
NM_000388.4(CASR):c.1076A>T (p.His359Leu) rs1576859031
NM_000388.4(CASR):c.1078C>T (p.Leu360Phe)
NM_000388.4(CASR):c.107G>T (p.Gly36Val) rs1559955372
NM_000388.4(CASR):c.1080C>A (p.Leu360=) rs2107632855
NM_000388.4(CASR):c.1080C>G (p.Leu360=) rs2107632855
NM_000388.4(CASR):c.1081C>T (p.Gln361Ter) rs2107632860
NM_000388.4(CASR):c.1084G>A (p.Glu362Lys) rs2107632864
NM_000388.4(CASR):c.1087G>A (p.Gly363Ser) rs757475954
NM_000388.4(CASR):c.1088G>A (p.Gly363Asp) rs2074633801
NM_000388.4(CASR):c.108dup (p.Leu37fs) rs886041823
NM_000388.4(CASR):c.1092A>C (p.Ala364=) rs2107632879
NM_000388.4(CASR):c.1096G>A (p.Gly366Arg) rs2074633882
NM_000388.4(CASR):c.10T>C (p.Tyr4His) rs1559955224
NM_000388.4(CASR):c.1100C>A (p.Pro367His)
NM_000388.4(CASR):c.1100C>T (p.Pro367Leu)
NM_000388.4(CASR):c.1103T>C (p.Leu368Ser) rs1576859083
NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)
NM_000388.4(CASR):c.1105C>T (p.Pro369Ser) rs1217895146
NM_000388.4(CASR):c.1108G>A (p.Val370Met) rs2074634164
NM_000388.4(CASR):c.1108G>C (p.Val370Leu)
NM_000388.4(CASR):c.1109T>C (p.Val370Ala)
NM_000388.4(CASR):c.110T>C (p.Leu37Pro)
NM_000388.4(CASR):c.1113C>T (p.Asp371=) rs1320065729
NM_000388.4(CASR):c.1114A>C (p.Thr372Pro) rs571007208
NM_000388.4(CASR):c.1114A>G (p.Thr372Ala)
NM_000388.4(CASR):c.1114dup (p.Thr372fs)
NM_000388.4(CASR):c.1115C>A (p.Thr372Asn) rs2074634402
NM_000388.4(CASR):c.1115C>T (p.Thr372Ile) rs2074634402
NM_000388.4(CASR):c.1116C>G (p.Thr372=)
NM_000388.4(CASR):c.1116C>T (p.Thr372=) rs539867627
NM_000388.4(CASR):c.111C>T (p.Leu37=) rs2074530079
NM_000388.4(CASR):c.1124G>C (p.Arg375Thr)
NM_000388.4(CASR):c.1124G>T (p.Arg375Ile) rs760190284
NM_000388.4(CASR):c.1126G>A (p.Gly376Ser) rs2107632942
NM_000388.4(CASR):c.1127G>A (p.Gly376Asp)
NM_000388.4(CASR):c.1127G>T (p.Gly376Val) rs2074634579
NM_000388.4(CASR):c.112_113insC (p.Phe38fs) rs2107624936
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) rs201338034
NM_000388.4(CASR):c.1135G>A (p.Glu379Lys) rs1189291559
NM_000388.4(CASR):c.1138A>G (p.Ser380Gly) rs2074634758
NM_000388.4(CASR):c.1143C>A (p.Gly381=) rs374835228
NM_000388.4(CASR):c.1144G>T (p.Asp382Tyr)
NM_000388.4(CASR):c.1145A>G (p.Asp382Gly)
NM_000388.4(CASR):c.1149G>A (p.Arg383=)
NM_000388.4(CASR):c.114T>A (p.Phe38Leu)
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn) rs1553766867
NM_000388.4(CASR):c.1155C>A (p.Ser385Arg)
NM_000388.4(CASR):c.1155C>T (p.Ser385=)
NM_000388.4(CASR):c.1156A>C (p.Asn386His) rs2107632989
NM_000388.4(CASR):c.115C>T (p.Pro39Ser) rs121909262
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1164G>C (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1164G>T (p.Ser388=)
NM_000388.4(CASR):c.1165A>G (p.Thr389Ala)
NM_000388.4(CASR):c.1166C>G (p.Thr389Arg) rs2107633014
NM_000388.4(CASR):c.1168G>A (p.Ala390Thr) rs202228006
NM_000388.4(CASR):c.1169C>A (p.Ala390Asp) rs757533550
NM_000388.4(CASR):c.1169C>G (p.Ala390Gly) rs757533550
NM_000388.4(CASR):c.1170C>T (p.Ala390=) rs1264660850
NM_000388.4(CASR):c.1172T>C (p.Phe391Ser) rs2074635544
NM_000388.4(CASR):c.1174C>A (p.Arg392=) rs1559959758
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter) rs1559959758
NM_000388.4(CASR):c.1175G>T (p.Arg392Leu) rs1287075426
NM_000388.4(CASR):c.1176A>T (p.Arg392=) rs1576859254
NM_000388.4(CASR):c.1177C>A (p.Pro393Thr) rs2107633043
NM_000388.4(CASR):c.1179C>A (p.Pro393=)
NM_000388.4(CASR):c.1179C>T (p.Pro393=) rs1553766873
NM_000388.4(CASR):c.117T>G (p.Pro39=)
NM_000388.4(CASR):c.1180C>G (p.Leu394Val) rs1559959773
NM_000388.4(CASR):c.1180C>T (p.Leu394Phe) rs1559959773
NM_000388.4(CASR):c.1181T>A (p.Leu394His) rs2107633055
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg) rs1057517712
NM_000388.4(CASR):c.1187C>G (p.Thr396Arg) rs1576859271
NM_000388.4(CASR):c.1190G>A (p.Gly397Glu) rs1210105383
NM_000388.4(CASR):c.1191G>A (p.Gly397=)
NM_000388.4(CASR):c.1192G>T (p.Asp398Tyr) rs201177696
NM_000388.4(CASR):c.1193A>T (p.Asp398Val)
NM_000388.4(CASR):c.1198A>G (p.Asn400Asp)
NM_000388.4(CASR):c.1198A>T (p.Asn400Tyr)
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile) rs576643925
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys) rs1171102282
NM_000388.4(CASR):c.1204A>G (p.Ser402Gly)
NM_000388.4(CASR):c.1205G>A (p.Ser402Asn) rs2074636407
NM_000388.4(CASR):c.1206C>G (p.Ser402Arg) rs755403770
NM_000388.4(CASR):c.1207A>C (p.Ser403Arg) rs779219555
NM_000388.4(CASR):c.1209T>C (p.Ser403=) rs387907400
NM_000388.4(CASR):c.1209T>G (p.Ser403Arg) rs387907400
NM_000388.4(CASR):c.1211T>G (p.Val404Gly) rs2074636577
NM_000388.4(CASR):c.1212C>G (p.Val404=) rs967661303
NM_000388.4(CASR):c.1212C>T (p.Val404=) rs967661303
NM_000388.4(CASR):c.1214A>G (p.Glu405Gly) rs2074636705
NM_000388.4(CASR):c.1219C>G (p.Pro407Ala) rs977386230
NM_000388.4(CASR):c.121C>A (p.His41Asn)
NM_000388.4(CASR):c.1224C>T (p.Tyr408=) rs2107633125
NM_000388.4(CASR):c.1225A>G (p.Ile409Val) rs1576859345
NM_000388.4(CASR):c.1226T>C (p.Ile409Thr)
NM_000388.4(CASR):c.1231T>A (p.Tyr411Asn)
NM_000388.4(CASR):c.1231T>G (p.Tyr411Asp)
NM_000388.4(CASR):c.1232A>G (p.Tyr411Cys)
NM_000388.4(CASR):c.1233C>T (p.Tyr411=) rs2107633138
NM_000388.4(CASR):c.1236G>A (p.Thr412=) rs200443784
NM_000388.4(CASR):c.1236G>T (p.Thr412=) rs200443784
NM_000388.4(CASR):c.1237C>T (p.His413Tyr) rs2107633148
NM_000388.4(CASR):c.1238A>T (p.His413Leu) rs1553766896
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1251C>T (p.Ser417=) rs2107633167
NM_000388.4(CASR):c.1254C>T (p.Tyr418=) rs1325695500
NM_000388.4(CASR):c.1257T>C (p.Asn419=) rs1350678512
NM_000388.4(CASR):c.1259T>A (p.Val420Glu)
NM_000388.4(CASR):c.125T>C (p.Phe42Ser) rs1553765909
NM_000388.4(CASR):c.1260G>A (p.Val420=)
NM_000388.4(CASR):c.1264T>G (p.Leu422Val)
NM_000388.4(CASR):c.1267G>A (p.Ala423Thr) rs2074637455
NM_000388.4(CASR):c.1268_1270del (p.Ala423del)
NM_000388.4(CASR):c.1278C>T (p.Ser426=) rs748460866
NM_000388.4(CASR):c.1279A>G (p.Ile427Val) rs2074637558
NM_000388.4(CASR):c.127G>A (p.Gly43Arg) rs866899753
NM_000388.4(CASR):c.1280T>C (p.Ile427Thr) rs1553766906
NM_000388.4(CASR):c.1284C>T (p.Ala428=) rs2107633210
NM_000388.4(CASR):c.1286A>G (p.His429Arg)
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1287_1288insA (p.Ala430fs)
NM_000388.4(CASR):c.1288G>A (p.Ala430Thr) rs201520875
NM_000388.4(CASR):c.1293G>A (p.Leu431=)
NM_000388.4(CASR):c.1297G>T (p.Asp433Tyr)
NM_000388.4(CASR):c.1301T>C (p.Ile434Thr) rs1375250506
NM_000388.4(CASR):c.1302A>G (p.Ile434Met) rs2074638026
NM_000388.4(CASR):c.1304A>G (p.Tyr435Cys)
NM_000388.4(CASR):c.1304A>T (p.Tyr435Phe) rs1553766913
NM_000388.4(CASR):c.1305T>C (p.Tyr435=) rs1553766914
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) rs1553766916
NM_000388.4(CASR):c.1309T>A (p.Cys437Ser) rs1559959958
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg) rs1559959958
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1311C>T (p.Cys437=) rs2107633255
NM_000388.4(CASR):c.1312T>C (p.Leu438=) rs1304302853
NM_000388.4(CASR):c.1316C>A (p.Pro439His) rs2074638314
NM_000388.4(CASR):c.1317T>C (p.Pro439=) rs765170020
NM_000388.4(CASR):c.1318G>C (p.Gly440Arg)
NM_000388.4(CASR):c.1319G>A (p.Gly440Glu)
NM_000388.4(CASR):c.131T>A (p.Val44Glu) rs2074530498
NM_000388.4(CASR):c.1327C>T (p.Leu443Phe) rs267599574
NM_000388.4(CASR):c.1328T>C (p.Leu443Pro) rs2107633278
NM_000388.4(CASR):c.1331T>G (p.Phe444Cys)
NM_000388.4(CASR):c.1333A>C (p.Thr445Pro)
NM_000388.4(CASR):c.1334C>T (p.Thr445Ile) rs1471887387
NM_000388.4(CASR):c.1337A>G (p.Asn446Ser) rs1553766925
NM_000388.4(CASR):c.1341C>T (p.Gly447=) rs1576859552
NM_000388.4(CASR):c.1343C>G (p.Ser448Cys)
NM_000388.4(CASR):c.134C>A (p.Ala45Glu) rs779995504
NM_000388.4(CASR):c.134C>T (p.Ala45Val) rs779995504
NM_000388.4(CASR):c.1351G>T (p.Asp451Tyr) rs540006567
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) rs756206452
NM_000388.4(CASR):c.1354A>T (p.Ile452Phe)
NM_000388.4(CASR):c.1355T>A (p.Ile452Asn)
NM_000388.4(CASR):c.1363G>C (p.Val455Leu) rs2107633315
NM_000388.4(CASR):c.1364T>C (p.Val455Ala) rs2107633318
NM_000388.4(CASR):c.1370C>T (p.Ala457Val) rs1553766930
NM_000388.4(CASR):c.1375C>A (p.Gln459Lys) rs2074639368
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg) rs2107633334
NM_000388.4(CASR):c.1377+13C>T
NM_000388.4(CASR):c.1377+14T>G
NM_000388.4(CASR):c.1377+19T>C rs2074639946
NM_000388.4(CASR):c.1377+1G>A
NM_000388.4(CASR):c.1377+1G>T rs2074639464
NM_000388.4(CASR):c.1377+20A>C
NM_000388.4(CASR):c.1377+3G>A rs199824580
NM_000388.4(CASR):c.1377+4C>G rs1445251048
NM_000388.4(CASR):c.1377+4C>T rs1445251048
NM_000388.4(CASR):c.1377G>T (p.Gln459His)
NM_000388.4(CASR):c.1378-11C>T rs2107643342
NM_000388.4(CASR):c.1378-16C>A
NM_000388.4(CASR):c.1378-16C>G rs200620953
NM_000388.4(CASR):c.1378-1G>C rs2074810403
NM_000388.4(CASR):c.1378-7T>C rs1227939510
NM_000388.4(CASR):c.1378-9C>T
NM_000388.4(CASR):c.1381C>T (p.Leu461=) rs2107643359
NM_000388.4(CASR):c.1382T>A (p.Leu461Gln) rs1553768082
NM_000388.4(CASR):c.1382T>C (p.Leu461Pro) rs1553768082
NM_000388.4(CASR):c.1386G>A (p.Lys462=)
NM_000388.4(CASR):c.1389C>T (p.His463=) rs201572629
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) rs778165189
NM_000388.4(CASR):c.1391T>G (p.Leu464Arg)
NM_000388.4(CASR):c.1392A>G (p.Leu464=) rs2107643383
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1394G>T (p.Arg465Leu)
NM_000388.4(CASR):c.1395G>A (p.Arg465=) rs387907391
NM_000388.4(CASR):c.1395G>C (p.Arg465=)
NM_000388.4(CASR):c.1398T>C (p.His466=) rs760939658
NM_000388.4(CASR):c.1402A>C (p.Asn468His) rs2074810921
NM_000388.4(CASR):c.1405T>G (p.Phe469Val)
NM_000388.4(CASR):c.1406T>G (p.Phe469Cys) rs1376231303
NM_000388.4(CASR):c.1408A>T (p.Thr470Ser) rs2074811205
NM_000388.4(CASR):c.1410A>C (p.Thr470=) rs199886514
NM_000388.4(CASR):c.1415A>C (p.Asn472Thr)
NM_000388.4(CASR):c.1416T>C (p.Asn472=) rs1576870201
NM_000388.4(CASR):c.1417A>G (p.Met473Val) rs2074811389
NM_000388.4(CASR):c.1418T>C (p.Met473Thr) rs2074811449
NM_000388.4(CASR):c.1418T>G (p.Met473Arg)
NM_000388.4(CASR):c.1419G>A (p.Met473Ile) rs1559965073
NM_000388.4(CASR):c.141A>C (p.Lys47Asn) rs104893702
NM_000388.4(CASR):c.1420G>A (p.Gly474Arg) rs2107643437
NM_000388.4(CASR):c.1423G>C (p.Glu475Gln) rs1406184611
NM_000388.4(CASR):c.1425G>A (p.Glu475=) rs2107643445
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1429G>A (p.Val477Met) rs1416680566
NM_000388.4(CASR):c.142G>A (p.Asp48Asn)
NM_000388.4(CASR):c.1437T>C (p.Phe479=) rs143360516
NM_000388.4(CASR):c.1439A>T (p.Asp480Val) rs2074811961
NM_000388.4(CASR):c.1440T>A (p.Asp480Glu)
NM_000388.4(CASR):c.1443G>A (p.Glu481=)
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg) rs774174934
NM_000388.4(CASR):c.1445G>T (p.Cys482Phe)
NM_000388.4(CASR):c.1449T>C (p.Gly483=) rs771186654
NM_000388.4(CASR):c.1453C>T (p.Leu485=) rs2107643506
NM_000388.4(CASR):c.1455G>A (p.Leu485=)
NM_000388.4(CASR):c.1458G>A (p.Val486=) rs2074812399
NM_000388.4(CASR):c.145C>G (p.Gln49Glu) rs1553765913
NM_000388.4(CASR):c.1463A>T (p.Asn488Ile) rs146739893
NM_000388.4(CASR):c.1464C>T (p.Asn488=)
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) rs1553768108
NM_000388.4(CASR):c.1467T>C (p.Tyr489=) rs1576870324
NM_000388.4(CASR):c.1478A>C (p.Asn493Thr) rs140347078
NM_000388.4(CASR):c.147A>G (p.Gln49=)
NM_000388.4(CASR):c.1483C>T (p.His495Tyr)
NM_000388.4(CASR):c.1486C>T (p.Leu496Phe)
NM_000388.4(CASR):c.1487T>C (p.Leu496Pro) rs2107643566
NM_000388.4(CASR):c.1490C>A (p.Ser497Tyr)
NM_000388.4(CASR):c.1491C>A (p.Ser497=) rs150337940
NM_000388.4(CASR):c.1493C>A (p.Pro498Gln)
NM_000388.4(CASR):c.1495G>A (p.Glu499Lys) rs2107643577
NM_000388.4(CASR):c.1496A>C (p.Glu499Ala) rs1471885969
NM_000388.4(CASR):c.1496A>G (p.Glu499Gly)
NM_000388.4(CASR):c.1497G>C (p.Glu499Asp) rs2074813113
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.149A>G (p.Asp50Gly) rs1174370617
NM_000388.4(CASR):c.149A>T (p.Asp50Val) rs1174370617
NM_000388.4(CASR):c.1500T>A (p.Asp500Glu) rs200240922
NM_000388.4(CASR):c.1505C>T (p.Ser502Phe) rs1576870394
NM_000388.4(CASR):c.1506C>A (p.Ser502=) rs1576870401
NM_000388.4(CASR):c.1506C>T (p.Ser502=)
NM_000388.4(CASR):c.1507A>G (p.Ile503Val) rs200910001
NM_000388.4(CASR):c.1507del (p.Ile503fs)
NM_000388.4(CASR):c.1509C>G (p.Ile503Met) rs757499017
NM_000388.4(CASR):c.1509C>T (p.Ile503=) rs757499017
NM_000388.4(CASR):c.1510G>C (p.Val504Leu) rs201536450
NM_000388.4(CASR):c.1512G>A (p.Val504=) rs2074813597
NM_000388.4(CASR):c.1513T>C (p.Phe505Leu) rs2107643628
NM_000388.4(CASR):c.1515T>C (p.Phe505=)
NM_000388.4(CASR):c.1517A>C (p.Lys506Thr) rs750090892
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg) rs193922423
NM_000388.4(CASR):c.1526G>A (p.Gly509Glu) rs1060502845
NM_000388.4(CASR):c.1526G>C (p.Gly509Ala)
NM_000388.4(CASR):c.1527G>A (p.Gly509=) rs2107643649
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp) rs1576870447
NM_000388.4(CASR):c.1536C>T (p.Asn512=) rs887358400
NM_000388.4(CASR):c.1537G>A (p.Val513Ile) rs866241407
NM_000388.4(CASR):c.1539C>T (p.Val513=) rs1553768122
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)
NM_000388.4(CASR):c.1542T>C (p.Tyr514=)
NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter) rs2074814252
NM_000388.4(CASR):c.154A>G (p.Lys52Glu)
NM_000388.4(CASR):c.1550A>T (p.Lys517Met) rs2107643696
NM_000388.4(CASR):c.1551G>A (p.Lys517=)
NM_000388.4(CASR):c.1552G>A (p.Gly518Arg) rs2074814547
NM_000388.4(CASR):c.1557A>G (p.Glu519=)
NM_000388.4(CASR):c.1557_1560del (p.Glu519fs) rs2107643705
NM_000388.4(CASR):c.155A>G (p.Lys52Arg) rs1553765922
NM_000388.4(CASR):c.155A>T (p.Lys52Ile)
NM_000388.4(CASR):c.1560A>G (p.Arg520=)
NM_000388.4(CASR):c.1561C>G (p.Leu521Val)
NM_000388.4(CASR):c.1561C>T (p.Leu521Phe)
NM_000388.4(CASR):c.1563C>T (p.Leu521=)
NM_000388.4(CASR):c.1564T>G (p.Phe522Val) rs746054548
NM_000388.4(CASR):c.1565T>C (p.Phe522Ser)
NM_000388.4(CASR):c.1565T>G (p.Phe522Cys)
NM_000388.4(CASR):c.1566C>A (p.Phe522Leu) rs769907714
NM_000388.4(CASR):c.1566C>T (p.Phe522=)
NM_000388.4(CASR):c.1567A>G (p.Ile523Val) rs2107643730
NM_000388.4(CASR):c.156A>G (p.Lys52=) rs2107625024
NM_000388.4(CASR):c.1572C>T (p.Asn524=) rs776534485
NM_000388.4(CASR):c.1574A>C (p.Glu525Ala)
NM_000388.4(CASR):c.1574A>G (p.Glu525Gly)
NM_000388.4(CASR):c.1575G>A (p.Glu525=) rs898193456
NM_000388.4(CASR):c.1576G>A (p.Glu526Lys) rs201568219
NM_000388.4(CASR):c.1581A>T (p.Lys527Asn) rs1553768128
NM_000388.4(CASR):c.1592G>A (p.Ser531Asn) rs764669682
NM_000388.4(CASR):c.1592G>C (p.Ser531Thr)
NM_000388.4(CASR):c.1596G>A (p.Gly532=) rs774666667
NM_000388.4(CASR):c.1598T>A (p.Phe533Tyr)
NM_000388.4(CASR):c.1598T>C (p.Phe533Ser) rs2107643782
NM_000388.4(CASR):c.159A>C (p.Ser53=)
NM_000388.4(CASR):c.15_16delinsGG (p.Ser5_Cys6delinsArgGly)
NM_000388.4(CASR):c.1601C>T (p.Ser534Phe)
NM_000388.4(CASR):c.1605G>T (p.Arg535Ser)
NM_000388.4(CASR):c.1606G>A (p.Glu536Lys)
NM_000388.4(CASR):c.1608+10G>A rs2074816255
NM_000388.4(CASR):c.1608+14A>G rs1350749810
NM_000388.4(CASR):c.1608+16C>G
NM_000388.4(CASR):c.1608+1G>A
NM_000388.4(CASR):c.1608+2T>C
NM_000388.4(CASR):c.1608+4G>T rs878853974
NM_000388.4(CASR):c.1608+5G>A rs2107643797
NM_000388.4(CASR):c.1608+5del rs2074816023
NM_000388.4(CASR):c.1608+7G>T
NM_000388.4(CASR):c.1608+9T>A rs1407921987
NM_000388.4(CASR):c.1609-10T>G rs1576875662
NM_000388.4(CASR):c.1609-11C>G
NM_000388.4(CASR):c.1609-13G>A rs1274123257
NM_000388.4(CASR):c.1609-2A>G rs761084315
NM_000388.4(CASR):c.1609-4C>T rs200534176
NM_000388.4(CASR):c.1609-5T>C
NM_000388.4(CASR):c.1609-7C>T
NM_000388.4(CASR):c.1609G>C (p.Val537Leu)
NM_000388.4(CASR):c.1611G>C (p.Val537=) rs1576875688
NM_000388.4(CASR):c.1618T>A (p.Ser540Thr)
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe) rs1057518409
NM_000388.4(CASR):c.1620C>T (p.Ser540=) rs1576875710
NM_000388.4(CASR):c.1622A>C (p.Asn541Thr) rs201202700
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1624_1626del (p.Cys542del) rs1060502846
NM_000388.4(CASR):c.1626C>T (p.Cys542=) rs1576875732
NM_000388.4(CASR):c.1628G>C (p.Ser543Thr) rs1576875740
NM_000388.4(CASR):c.162G>C (p.Arg54Ser) rs2074531100
NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr) rs2107648244
NM_000388.4(CASR):c.1637G>T (p.Cys546Phe) rs2107648244
NM_000388.4(CASR):c.1639C>T (p.Leu547=)
NM_000388.4(CASR):c.163C>T (p.Pro55Ser)
NM_000388.4(CASR):c.1640T>C (p.Leu547Pro) rs2074897267
NM_000388.4(CASR):c.1641G>A (p.Leu547=)
NM_000388.4(CASR):c.1642G>A (p.Ala548Thr) rs200647941
NM_000388.4(CASR):c.1642G>T (p.Ala548Ser) rs200647941
NM_000388.4(CASR):c.1643C>A (p.Ala548Glu)
NM_000388.4(CASR):c.1645G>A (p.Gly549Arg) rs2107648261
NM_000388.4(CASR):c.1646G>A (p.Gly549Glu) rs2107648266
NM_000388.4(CASR):c.1647G>T (p.Gly549=) rs1553768722
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu) rs1060502847
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys) rs1060502861
NM_000388.4(CASR):c.1653G>A (p.Arg551=) rs1576875790
NM_000388.4(CASR):c.1658G>T (p.Gly553Val) rs1576875807
NM_000388.4(CASR):c.1660A>T (p.Ile554Phe) rs2074897865
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr) rs2074897929
NM_000388.4(CASR):c.1663A>G (p.Ile555Val) rs777646067
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1668G>C (p.Glu556Asp) rs186279271
NM_000388.4(CASR):c.1669G>A (p.Gly557Arg) rs2107648307
NM_000388.4(CASR):c.1669G>T (p.Gly557Trp)
NM_000388.4(CASR):c.166del (p.Glu56fs) rs193922424
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu) rs1576875835
NM_000388.4(CASR):c.1671G>A (p.Gly557=)
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly) rs1553768726
NM_000388.4(CASR):c.1677C>T (p.Pro559=)
NM_000388.4(CASR):c.1679C>A (p.Thr560Asn) rs768820665
NM_000388.4(CASR):c.167A>T (p.Glu56Val) rs2107625061
NM_000388.4(CASR):c.1681T>G (p.Cys561Gly) rs2074898625
NM_000388.4(CASR):c.1682G>A (p.Cys561Tyr)
NM_000388.4(CASR):c.1683C>T (p.Cys561=) rs2107648334
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) rs193922427
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu) rs2074898883
NM_000388.4(CASR):c.1688T>C (p.Phe563Ser) rs1553768731
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly) rs1559967708
NM_000388.4(CASR):c.1694G>A (p.Cys565Tyr) rs1553768736
NM_000388.4(CASR):c.1698G>A (p.Val566=) rs2074899115
NM_000388.4(CASR):c.1699G>A (p.Glu567Lys) rs868390788
NM_000388.4(CASR):c.16T>G (p.Cys6Gly) rs1559955229
NM_000388.4(CASR):c.1701G>A (p.Glu567=)
NM_000388.4(CASR):c.1702T>G (p.Cys568Gly) rs1060502851
NM_000388.4(CASR):c.1703G>A (p.Cys568Tyr) rs2107648373
NM_000388.4(CASR):c.1704T>C (p.Cys568=) rs2107648376
NM_000388.4(CASR):c.1705C>T (p.Pro569Ser) rs1271168512
NM_000388.4(CASR):c.1711G>A (p.Gly571Arg)
NM_000388.4(CASR):c.1713G>A (p.Gly571=) rs200878919
NM_000388.4(CASR):c.1714G>C (p.Glu572Gln) rs2107648387
NM_000388.4(CASR):c.1716G>A (p.Glu572=) rs946945741
NM_000388.4(CASR):c.1723G>A (p.Asp575Asn) rs2074899710
NM_000388.4(CASR):c.1728G>C (p.Glu576Asp) rs2074899858
NM_000388.4(CASR):c.1732+10C>T rs201859314
NM_000388.4(CASR):c.1732+12C>A
NM_000388.4(CASR):c.1732+12C>T rs1336922681
NM_000388.4(CASR):c.1732+13C>T
NM_000388.4(CASR):c.1732+15C>T
NM_000388.4(CASR):c.1732+15_1732+16delinsAC rs2107648439
NM_000388.4(CASR):c.1732+1_1732+10delinsTG rs1064792970
NM_000388.4(CASR):c.1732+20G>T
NM_000388.4(CASR):c.1732+6G>A
NM_000388.4(CASR):c.1732+6G>T
NM_000388.4(CASR):c.1732+7G>C
NM_000388.4(CASR):c.1732+9A>G rs2074900202
NM_000388.4(CASR):c.1733-10C>T rs1559968171
NM_000388.4(CASR):c.1733-12G>A rs2107649328
NM_000388.4(CASR):c.1733-13G>A
NM_000388.4(CASR):c.1733-16C>T
NM_000388.4(CASR):c.1733-7T>A rs2074920505
NM_000388.4(CASR):c.1733A>G (p.Asp578Gly) rs2107649336
NM_000388.4(CASR):c.1739G>A (p.Ser580Asn)
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser) rs2074920676
NM_000388.4(CASR):c.1744T>C (p.Cys582Arg)
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1748A>G (p.Asn583Ser) rs2074920846
NM_000388.4(CASR):c.1749C>T (p.Asn583=)
NM_000388.4(CASR):c.1751A>C (p.Lys584Thr)
NM_000388.4(CASR):c.1753T>A (p.Cys585Ser)
NM_000388.4(CASR):c.1755C>G (p.Cys585Trp)
NM_000388.4(CASR):c.1758A>G (p.Pro586=)
NM_000388.4(CASR):c.1759dup (p.Asp587fs) rs2107649366
NM_000388.4(CASR):c.175G>A (p.Glu59Lys) rs2107625081
NM_000388.4(CASR):c.1761T>A (p.Asp587Glu)
NM_000388.4(CASR):c.1764C>T (p.Asp588=)
NM_000388.4(CASR):c.1767C>T (p.Phe589=) rs1465788605
NM_000388.4(CASR):c.176A>G (p.Glu59Gly)
NM_000388.4(CASR):c.1772C>T (p.Ser591Phe)
NM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer) rs2107649385
NM_000388.4(CASR):c.1775A>T (p.Asn592Ile)
NM_000388.4(CASR):c.1776T>A (p.Asn592Lys) rs2107649392
NM_000388.4(CASR):c.1782C>T (p.Asn594=)
NM_000388.4(CASR):c.1783del (p.His595fs) rs2107649406
NM_000388.4(CASR):c.1787CCT[1] (p.Ser597del)
NM_000388.4(CASR):c.1789T>C (p.Ser597Pro) rs1553768903
NM_000388.4(CASR):c.1793G>A (p.Cys598Tyr) rs2107649418
NM_000388.4(CASR):c.1796T>C (p.Ile599Thr) rs2107649420
NM_000388.4(CASR):c.179G>T (p.Cys60Phe) rs772906030
NM_000388.4(CASR):c.1800C>G (p.Ala600=)
NM_000388.4(CASR):c.1802del (p.Lys601fs) rs2107649423
NM_000388.4(CASR):c.1803G>A (p.Lys601=) rs2074922113
NM_000388.4(CASR):c.1803G>C (p.Lys601Asn)
NM_000388.4(CASR):c.1809C>T (p.Ile603=) rs1332311514
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1817T>C (p.Leu606Pro) rs2107649441
NM_000388.4(CASR):c.1818G>A (p.Leu606=)
NM_000388.4(CASR):c.181A>C (p.Ile61Leu) rs2074531605
NM_000388.4(CASR):c.1820C>A (p.Ser607Ter)
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.1822T>C (p.Trp608Arg) rs2107649456
NM_000388.4(CASR):c.1824G>C (p.Trp608Cys)
NM_000388.4(CASR):c.1826C>A (p.Thr609Lys) rs759904153
NM_000388.4(CASR):c.1826C>G (p.Thr609Arg) rs759904153
NM_000388.4(CASR):c.1829A>C (p.Glu610Ala)
NM_000388.4(CASR):c.1831C>T (p.Pro611Ser)
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser) rs104893698
NM_000388.4(CASR):c.1837G>C (p.Gly613Arg) rs1060502842
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
NM_000388.4(CASR):c.183C>T (p.Ile61=) rs2074531684
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1843G>C (p.Ala615Pro)
NM_000388.4(CASR):c.1843G>T (p.Ala615Ser)
NM_000388.4(CASR):c.1844C>T (p.Ala615Val)
NM_000388.4(CASR):c.1846C>G (p.Leu616Val) rs104893703
NM_000388.4(CASR):c.1847_1850del (p.Leu616fs)
NM_000388.4(CASR):c.1848C>A (p.Leu616=) rs2107649505
NM_000388.4(CASR):c.184A>C (p.Arg62=)
NM_000388.4(CASR):c.185+10G>T rs201869423
NM_000388.4(CASR):c.185+11G>A
NM_000388.4(CASR):c.185+12G>A
NM_000388.4(CASR):c.185+13G>A
NM_000388.4(CASR):c.185+15C>A rs199849269
NM_000388.4(CASR):c.185+15C>G rs199849269
NM_000388.4(CASR):c.185+15C>T
NM_000388.4(CASR):c.185+17A>G rs2107625126
NM_000388.4(CASR):c.185+1G>A
NM_000388.4(CASR):c.185+20C>T
NM_000388.4(CASR):c.185+5_185+18del rs1576852370
NM_000388.4(CASR):c.185+7_185+9del rs1576852373
NM_000388.4(CASR):c.185+9_185+10del rs2107625112
NM_000388.4(CASR):c.1851C>A (p.Thr617=) rs1553768940
NM_000388.4(CASR):c.1852C>G (p.Leu618Val) rs2074923685
NM_000388.4(CASR):c.1852C>T (p.Leu618Phe)
NM_000388.4(CASR):c.1852del (p.Leu618fs) rs2107649518
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.1854C>T (p.Leu618=) rs1553768941
NM_000388.4(CASR):c.185G>A (p.Arg62Lys)
NM_000388.4(CASR):c.186-10T>C rs2107627405
NM_000388.4(CASR):c.186-13T>G
NM_000388.4(CASR):c.186-15T>C
NM_000388.4(CASR):c.186-16T>G rs2107627398
NM_000388.4(CASR):c.186-17CTT[2] rs769243052
NM_000388.4(CASR):c.186-18A>G
NM_000388.4(CASR):c.186-1G>A
NM_000388.4(CASR):c.186-1G>C
NM_000388.4(CASR):c.186-1G>T rs797044441
NM_000388.4(CASR):c.186-2A>G rs1350886416
NM_000388.4(CASR):c.186-3C>T
NM_000388.4(CASR):c.186-4C>A
NM_000388.4(CASR):c.186-8T>C rs2107627408
NM_000388.4(CASR):c.1860C>G (p.Ala620=) rs141522130
NM_000388.4(CASR):c.1861G>C (p.Val621Leu)
NM_000388.4(CASR):c.1864C>T (p.Leu622=)
NM_000388.4(CASR):c.1868G>A (p.Gly623Asp) rs2107649545
NM_000388.4(CASR):c.1868G>C (p.Gly623Ala) rs2107649545
NM_000388.4(CASR):c.1868del (p.Gly623fs) rs2074923990
NM_000388.4(CASR):c.186G>A (p.Arg62=) rs1414007336
NM_000388.4(CASR):c.1876C>A (p.Leu626Met) rs2107649551
NM_000388.4(CASR):c.1878G>A (p.Leu626=)
NM_000388.4(CASR):c.1880C>A (p.Thr627Lys) rs2074924073
NM_000388.4(CASR):c.1880C>T (p.Thr627Ile) rs2074924073
NM_000388.4(CASR):c.1884C>T (p.Ala628=)
NM_000388.4(CASR):c.1888G>A (p.Val630Met) rs1559968392
NM_000388.4(CASR):c.1888G>C (p.Val630Leu) rs1559968392
NM_000388.4(CASR):c.1888G>T (p.Val630Leu)
NM_000388.4(CASR):c.188A>G (p.Tyr63Cys) rs1291192328
NM_000388.4(CASR):c.1891C>G (p.Leu631Val) rs755874864
NM_000388.4(CASR):c.1891C>T (p.Leu631=)
NM_000388.4(CASR):c.1893G>A (p.Leu631=) rs2107649583
NM_000388.4(CASR):c.1894G>A (p.Gly632Ser) rs2074924501
NM_000388.4(CASR):c.1898T>A (p.Val633Glu)
NM_000388.4(CASR):c.1898T>G (p.Val633Gly)
NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs) rs2074924614
NM_000388.4(CASR):c.189T>A (p.Tyr63Ter)
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.1902dup (p.Ile635fs)
NM_000388.4(CASR):c.1903A>C (p.Ile635Leu) rs2074924739
NM_000388.4(CASR):c.1903A>G (p.Ile635Val) rs2074924739
NM_000388.4(CASR):c.1908G>A (p.Lys636=)
NM_000388.4(CASR):c.190A>G (p.Asn64Asp) rs2107627423
NM_000388.4(CASR):c.1911C>G (p.Phe637Leu) rs2074924937
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000388.4(CASR):c.1914C>A (p.Arg638=)
NM_000388.4(CASR):c.1916A>G (p.Asn639Ser) rs1559968444
NM_000388.4(CASR):c.1916A>T (p.Asn639Ile)
NM_000388.4(CASR):c.1918A>G (p.Thr640Ala)
NM_000388.4(CASR):c.1919C>A (p.Thr640Lys) rs1559968450
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile) rs1559968450
NM_000388.4(CASR):c.1925T>C (p.Ile642Thr) rs2107649633
NM_000388.4(CASR):c.1927G>A (p.Val643Ile)
NM_000388.4(CASR):c.192T>C (p.Asn64=)
NM_000388.4(CASR):c.1932G>A (p.Lys644=)
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp) rs193922430
NM_000388.4(CASR):c.1935C>T (p.Ala645=)
NM_000388.4(CASR):c.1936A>G (p.Thr646Ala) rs200113544
NM_000388.4(CASR):c.193T>A (p.Phe65Ile)
NM_000388.4(CASR):c.1941C>A (p.Asn647Lys)
NM_000388.4(CASR):c.1941C>T (p.Asn647=)
NM_000388.4(CASR):c.1942C>A (p.Arg648=) rs104893705
NM_000388.4(CASR):c.1942C>G (p.Arg648Gly)
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln) rs757736220
NM_000388.4(CASR):c.1944A>C (p.Arg648=) rs2074925850
NM_000388.4(CASR):c.1948C>T (p.Leu650Phe) rs1553768963
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro) rs2107649656
NM_000388.4(CASR):c.1951T>C (p.Ser651Pro) rs2074926028
NM_000388.4(CASR):c.1952C>A (p.Ser651Tyr) rs2074926080
NM_000388.4(CASR):c.1952C>T (p.Ser651Phe) rs2074926080
NM_000388.4(CASR):c.1957C>T (p.Leu653Phe) rs1553768964
NM_000388.4(CASR):c.1960C>T (p.Leu654Phe) rs1553768966
NM_000388.4(CASR):c.1962C>T (p.Leu654=) rs746231094
NM_000388.4(CASR):c.1963C>G (p.Leu655Val)
NM_000388.4(CASR):c.1965C>G (p.Leu655=) rs1339304346
NM_000388.4(CASR):c.1968C>A (p.Phe656Leu) rs2074926557
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.1972C>A (p.Leu658Met) rs201609857
NM_000388.4(CASR):c.1972C>T (p.Leu658=)
NM_000388.4(CASR):c.1972del (p.Leu658fs) rs1553768972
NM_000388.4(CASR):c.1974G>A (p.Leu658=)
NM_000388.4(CASR):c.1977C>G (p.Leu659=) rs1576877263
NM_000388.4(CASR):c.1977C>T (p.Leu659=) rs1576877263
NM_000388.4(CASR):c.197G>A (p.Arg66His) rs1276839362
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) rs1276839362
NM_000388.4(CASR):c.1981T>A (p.Cys661Ser) rs2107649710
NM_000388.4(CASR):c.1983C>A (p.Cys661Ter) rs2074926931
NM_000388.4(CASR):c.1984T>G (p.Phe662Val)
NM_000388.4(CASR):c.1987T>A (p.Ser663Thr) rs2074927053
NM_000388.4(CASR):c.1998G>C (p.Leu666=)
NM_000388.4(CASR):c.1999T>C (p.Phe667Leu) rs1576877276
NM_000388.4(CASR):c.1999TTC[1] (p.Phe668del) rs2074927295
NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs) rs1559956508
NM_000388.4(CASR):c.2000T>C (p.Phe667Ser) rs2074927361
NM_000388.4(CASR):c.2004C>T (p.Phe668=) rs2107649757
NM_000388.4(CASR):c.2005A>C (p.Ile669Leu) rs1576877284
NM_000388.4(CASR):c.2005A>G (p.Ile669Val) rs1576877284
NM_000388.4(CASR):c.2006T>C (p.Ile669Thr) rs2107649763
NM_000388.4(CASR):c.2007C>T (p.Ile669=) rs967478601
NM_000388.4(CASR):c.2008G>A (p.Gly670Arg) rs2074927550
NM_000388.4(CASR):c.2008G>C (p.Gly670Arg) rs2074927550
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) rs104893700
NM_000388.4(CASR):c.2009G>T (p.Gly670Val) rs104893700
NM_000388.4(CASR):c.2010_2011del (p.Glu671fs) rs2074927630
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr) rs193922431
NM_000388.4(CASR):c.2014C>T (p.Pro672Ser) rs193922431
NM_000388.4(CASR):c.2015C>G (p.Pro672Arg) rs2107649789
NM_000388.4(CASR):c.2015C>T (p.Pro672Leu)
NM_000388.4(CASR):c.2018A>G (p.Gln673Arg) rs1576877306
NM_000388.4(CASR):c.2019G>C (p.Gln673His) rs2107649800
NM_000388.4(CASR):c.2021A>T (p.Asp674Val) rs2107649801
NM_000388.4(CASR):c.2022C>A (p.Asp674Glu) rs1576877311
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg) rs2107649805
NM_000388.4(CASR):c.2026A>T (p.Thr676Ser) rs2074927990
NM_000388.4(CASR):c.2027C>T (p.Thr676Met) rs768204447
NM_000388.4(CASR):c.2028G>C (p.Thr676=)
NM_000388.4(CASR):c.2030del (p.Cys677fs) rs2107649818
NM_000388.4(CASR):c.2033G>A (p.Arg678His) rs1278025825
NM_000388.4(CASR):c.2036T>C (p.Leu679Pro) rs1553768983
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg) rs1553768983
NM_000388.4(CASR):c.2043G>T (p.Gln681His) rs121909261
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu) rs1553768989
NM_000388.4(CASR):c.2045del (p.Pro682fs)
NM_000388.4(CASR):c.2046_2047delinsTT (p.Ala683Ser)
NM_000388.4(CASR):c.2049C>A (p.Ala683=)
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
NM_000388.4(CASR):c.2054G>C (p.Gly685Ala) rs1576877377
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.2058C>T (p.Ile686=) rs2107649875
NM_000388.4(CASR):c.205C>A (p.Arg69Ser)
NM_000388.4(CASR):c.205C>T (p.Arg69Cys) rs1313627454
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg) rs2074930161
NM_000388.4(CASR):c.2063T>C (p.Phe688Ser)
NM_000388.4(CASR):c.2063T>G (p.Phe688Cys)
NM_000388.4(CASR):c.2064C>G (p.Phe688Leu) rs150869744
NM_000388.4(CASR):c.2064_2065delinsTA (p.Val689Met)
NM_000388.4(CASR):c.2065G>A (p.Val689Met) rs2107649885
NM_000388.4(CASR):c.2068C>T (p.Leu690Phe) rs1467832380
NM_000388.4(CASR):c.2072G>C (p.Cys691Ser)
NM_000388.4(CASR):c.2074A>G (p.Ile692Val)
NM_000388.4(CASR):c.2076C>T (p.Ile692=) rs1553768999
NM_000388.4(CASR):c.2079A>C (p.Ser693=)
NM_000388.4(CASR):c.2083_2106dup (p.Ile695_Val702dup) rs1553769002
NM_000388.4(CASR):c.2084T>C (p.Ile695Thr) rs2107649915
NM_000388.4(CASR):c.2085C>G (p.Ile695Met) rs2074930623
NM_000388.4(CASR):c.2087T>A (p.Leu696Gln) rs2107649925
NM_000388.4(CASR):c.2095A>C (p.Thr699Pro)
NM_000388.4(CASR):c.2096C>T (p.Thr699Ile) rs2107649929
NM_000388.4(CASR):c.2097C>T (p.Thr699=) rs1576877434
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.209G>C (p.Trp70Ser)
NM_000388.4(CASR):c.20G>A (p.Cys7Tyr) rs2074528024
NM_000388.4(CASR):c.20G>C (p.Cys7Ser) rs2074528024
NM_000388.4(CASR):c.20G>T (p.Cys7Phe) rs2074528024
NM_000388.4(CASR):c.2100C>T (p.Asn700=)
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2105T>C (p.Val702Ala) rs1559968643
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro) rs886043656
NM_000388.4(CASR):c.2109C>G (p.Leu703=)
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro) rs1559968657
NM_000388.4(CASR):c.2114T>C (p.Val705Ala)
NM_000388.4(CASR):c.2114_2122del (p.Val705_Glu707del)
NM_000388.4(CASR):c.2118T>C (p.Phe706=)
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr) rs2074931493
NM_000388.4(CASR):c.2127G>A (p.Lys709=)
NM_000388.4(CASR):c.2130C>A (p.Ile710=)
NM_000388.4(CASR):c.2130C>T (p.Ile710=) rs2107649987
NM_000388.4(CASR):c.2130_2131delinsAA (p.Pro711Thr) rs2074931664
NM_000388.4(CASR):c.2131C>T (p.Pro711Ser)
NM_000388.4(CASR):c.2135C>G (p.Thr712Ser) rs746383651
NM_000388.4(CASR):c.213A>G (p.Leu71=)
NM_000388.4(CASR):c.2143C>A (p.His715Asn) rs2074932182
NM_000388.4(CASR):c.2143C>T (p.His715Tyr) rs2074932182
NM_000388.4(CASR):c.2146C>G (p.Arg716Gly) rs768333005
NM_000388.4(CASR):c.2146C>T (p.Arg716Cys) rs768333005
NM_000388.4(CASR):c.2147G>C (p.Arg716Pro) rs201670662
NM_000388.4(CASR):c.2148C>T (p.Arg716=) rs2107650027
NM_000388.4(CASR):c.2148dup (p.Lys717fs) rs2107650029
NM_000388.4(CASR):c.2151G>C (p.Lys717Asn)
NM_000388.4(CASR):c.2153G>T (p.Trp718Leu) rs961879608
NM_000388.4(CASR):c.2154G>C (p.Trp718Cys) rs2074932551
NM_000388.4(CASR):c.2158G>A (p.Gly720Arg) rs2074932631
NM_000388.4(CASR):c.2159G>A (p.Gly720Glu)
NM_000388.4(CASR):c.2160G>A (p.Gly720=) rs1447996348
NM_000388.4(CASR):c.2163C>T (p.Leu721=) rs1427860271
NM_000388.4(CASR):c.2167C>T (p.Leu723=) rs2107650065
NM_000388.4(CASR):c.2168T>G (p.Leu723Arg) rs2107650069
NM_000388.4(CASR):c.2179C>T (p.Leu727=) rs1177992998
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln) rs104893718
NM_000388.4(CASR):c.2181G>A (p.Leu727=)
NM_000388.4(CASR):c.2182G>A (p.Val728Ile) rs1576877587
NM_000388.4(CASR):c.2182G>C (p.Val728Leu) rs1576877587
NM_000388.4(CASR):c.2182G>T (p.Val728Phe)
NM_000388.4(CASR):c.2184T>A (p.Val728=)
NM_000388.4(CASR):c.2185T>C (p.Phe729Leu)
NM_000388.4(CASR):c.2187C>T (p.Phe729=)
NM_000388.4(CASR):c.2188C>T (p.Leu730Phe)
NM_000388.4(CASR):c.2191T>A (p.Cys731Ser)
NM_000388.4(CASR):c.2193C>T (p.Cys731=)
NM_000388.4(CASR):c.2194A>G (p.Thr732Ala) rs1576877607
NM_000388.4(CASR):c.2199C>A (p.Phe733Leu) rs1576877611
NM_000388.4(CASR):c.21C>T (p.Cys7=) rs1381043518
NM_000388.4(CASR):c.2200A>T (p.Met734Leu) rs1286818613
NM_000388.4(CASR):c.2202G>A (p.Met734Ile) rs542541990
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys) rs1553769052
NM_000388.4(CASR):c.2204A>C (p.Gln735Pro)
NM_000388.4(CASR):c.220A>G (p.Met74Val) rs745377913
NM_000388.4(CASR):c.2211C>T (p.Val737=)
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2216G>C (p.Cys739Ser) rs375468610
NM_000388.4(CASR):c.2229C>G (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2229C>T (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2231A>T (p.Tyr744Phe) rs751816764
NM_000388.4(CASR):c.2235C>G (p.Thr745=) rs201702964
NM_000388.4(CASR):c.2235C>T (p.Thr745=) rs201702964
NM_000388.4(CASR):c.2238G>A (p.Ala746=) rs149557554
NM_000388.4(CASR):c.2238G>T (p.Ala746=) rs149557554
NM_000388.4(CASR):c.2239C>G (p.Pro747Ala) rs1576877692
NM_000388.4(CASR):c.223A>G (p.Ile75Val)
NM_000388.4(CASR):c.2241C>G (p.Pro747=) rs1559968833
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.2242C>T (p.Pro748Ser) rs2074934184
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) rs193922433
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu) rs193922433
NM_000388.4(CASR):c.2244G>A (p.Pro748=) rs2036400
NM_000388.4(CASR):c.2244G>T (p.Pro748=) rs2036400
NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala) rs2107650178
NM_000388.4(CASR):c.2244del (p.Ser749fs)
NM_000388.4(CASR):c.2247A>C (p.Ser749=)
NM_000388.4(CASR):c.2248A>G (p.Ser750Gly)
NM_000388.4(CASR):c.224T>C (p.Ile75Thr) rs2107627470
NM_000388.4(CASR):c.2250C>A (p.Ser750Arg) rs1559968879
NM_000388.4(CASR):c.2253C>T (p.Tyr751=)
NM_000388.4(CASR):c.2254C>A (p.Arg752Ser) rs193922434
NM_000388.4(CASR):c.2254C>G (p.Arg752Gly) rs193922434
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys) rs193922434
NM_000388.4(CASR):c.2254del (p.Arg752fs) rs2107650195
NM_000388.4(CASR):c.2255G>C (p.Arg752Pro) rs771529256
NM_000388.4(CASR):c.2261A>C (p.Gln754Pro) rs777361297
NM_000388.4(CASR):c.2262G>A (p.Gln754=) rs1487359017
NM_000388.4(CASR):c.2264A>G (p.Glu755Gly) rs2074935054
NM_000388.4(CASR):c.2265G>A (p.Glu755=) rs201366240
NM_000388.4(CASR):c.2268G>A (p.Leu756=) rs2107650239
NM_000388.4(CASR):c.2269G>A (p.Glu757Lys) rs2074935149
NM_000388.4(CASR):c.2272G>A (p.Asp758Asn)
NM_000388.4(CASR):c.2275G>A (p.Glu759Lys)
NM_000388.4(CASR):c.2278A>G (p.Ile760Val) rs1453953571
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571
NM_000388.4(CASR):c.2280C>A (p.Ile760=) rs1553769074
NM_000388.4(CASR):c.2280C>G (p.Ile760Met) rs1553769074
NM_000388.4(CASR):c.2281A>C (p.Ile761Leu)
NM_000388.4(CASR):c.2282T>A (p.Ile761Asn)
NM_000388.4(CASR):c.2282T>C (p.Ile761Thr)
NM_000388.4(CASR):c.2287A>C (p.Ile763Leu)
NM_000388.4(CASR):c.2288T>G (p.Ile763Ser)
NM_000388.4(CASR):c.2290A>C (p.Thr764Pro) rs2074935297
NM_000388.4(CASR):c.2291C>T (p.Thr764Met)
NM_000388.4(CASR):c.2292G>A (p.Thr764=) rs199615189
NM_000388.4(CASR):c.2292G>C (p.Thr764=) rs199615189
NM_000388.4(CASR):c.2292G>T (p.Thr764=)
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg) rs1363412937
NM_000388.4(CASR):c.2296C>A (p.His766Asn) rs776652154
NM_000388.4(CASR):c.2296C>T (p.His766Tyr) rs776652154
NM_000388.4(CASR):c.2297_2298dup (p.Glu767fs) rs2107650280
NM_000388.4(CASR):c.2298C>G (p.His766Gln)
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys) rs2074935748
NM_000388.4(CASR):c.229G>T (p.Ala77Ser) rs2074562595
NM_000388.4(CASR):c.2300A>C (p.Glu767Ala) rs2107650290
NM_000388.4(CASR):c.2304C>G (p.Gly768=) rs1576877799
NM_000388.4(CASR):c.2315C>T (p.Ala772Val) rs1336598166
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) rs104893699
NM_000388.4(CASR):c.2320G>A (p.Gly774Ser)
NM_000388.4(CASR):c.2322C>A (p.Gly774=)
NM_000388.4(CASR):c.2323T>G (p.Phe775Val)
NM_000388.4(CASR):c.2324T>C (p.Phe775Ser)
NM_000388.4(CASR):c.2325C>G (p.Phe775Leu) rs767586088
NM_000388.4(CASR):c.2326C>T (p.Leu776=)
NM_000388.4(CASR):c.2329A>C (p.Ile777Leu) rs2074936383
NM_000388.4(CASR):c.2330T>C (p.Ile777Thr)
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg) rs1479933693
NM_000388.4(CASR):c.2332G>T (p.Gly778Cys)
NM_000388.4(CASR):c.2333G>A (p.Gly778Asp) rs2074936560
NM_000388.4(CASR):c.2337C>T (p.Tyr779=)
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) rs754332943
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) rs754332943
NM_000388.4(CASR):c.233T>C (p.Ile78Thr) rs2074562667
NM_000388.4(CASR):c.2341T>A (p.Cys781Ser) rs2107650358
NM_000388.4(CASR):c.2343C>T (p.Cys781=) rs1553769084
NM_000388.4(CASR):c.2346G>C (p.Leu782=)
NM_000388.4(CASR):c.2347C>T (p.Leu783=)
NM_000388.4(CASR):c.2349G>A (p.Leu783=) rs2074937009
NM_000388.4(CASR):c.2358C>T (p.Ile786=) rs2107650380
NM_000388.4(CASR):c.235G>A (p.Glu79Lys) rs2074562715
NM_000388.4(CASR):c.2361C>T (p.Cys787=) rs1211380440
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu) rs104893711
NM_000388.4(CASR):c.2363T>C (p.Phe788Ser)
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) rs104893701
NM_000388.4(CASR):c.2366T>C (p.Phe789Ser)
NM_000388.4(CASR):c.2368T>C (p.Phe790Leu)
NM_000388.4(CASR):c.2369T>G (p.Phe790Cys)
NM_000388.4(CASR):c.2370T>G (p.Phe790Leu)
NM_000388.4(CASR):c.2373C>T (p.Ala791=) rs1553769095
NM_000388.4(CASR):c.2378A>T (p.Lys793Met)
NM_000388.4(CASR):c.2379G>A (p.Lys793=) rs2107650412
NM_000388.4(CASR):c.237G>A (p.Glu79=) rs2074562746
NM_000388.4(CASR):c.237G>C (p.Glu79Asp) rs2074562746
NM_000388.4(CASR):c.2380T>G (p.Ser794Ala)
NM_000388.4(CASR):c.2382C>T (p.Ser794=)
NM_000388.4(CASR):c.2383C>G (p.Arg795Gly) rs121909258
NM_000388.4(CASR):c.2384G>A (p.Arg795Gln)
NM_000388.4(CASR):c.2384G>C (p.Arg795Pro)
NM_000388.4(CASR):c.2389C>A (p.Leu797Met) rs866506433
NM_000388.4(CASR):c.2389C>T (p.Leu797=)
NM_000388.4(CASR):c.238G>C (p.Glu80Gln)
NM_000388.4(CASR):c.2393C>G (p.Pro798Arg) rs1060502856
NM_000388.4(CASR):c.2394G>A (p.Pro798=) rs1353910174
NM_000388.4(CASR):c.2397G>A (p.Glu799=)
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp) rs752953216
NM_000388.4(CASR):c.239A>C (p.Glu80Ala) rs1576854303
NM_000388.4(CASR):c.2404A>G (p.Asn802Asp) rs2074937924
NM_000388.4(CASR):c.2406T>C (p.Asn802=)
NM_000388.4(CASR):c.2409A>G (p.Glu803=)
NM_000388.4(CASR):c.2410G>A (p.Ala804Thr) rs777219967
NM_000388.4(CASR):c.2414A>G (p.Lys805Arg)
NM_000388.4(CASR):c.2415G>A (p.Lys805=) rs1467118491
NM_000388.4(CASR):c.2415del (p.Lys805fs) rs2107650472
NM_000388.4(CASR):c.2417T>A (p.Phe806Tyr) rs104893693
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser) rs104893693
NM_000388.4(CASR):c.2417T>G (p.Phe806Cys) rs104893693
NM_000388.4(CASR):c.2418C>T (p.Phe806=) rs2107650480
NM_000388.4(CASR):c.2421C>T (p.Ile807=) rs1559969145
NM_000388.4(CASR):c.2425T>A (p.Phe809Ile) rs2074938402
NM_000388.4(CASR):c.2429G>A (p.Ser810Asn) rs2074938472
NM_000388.4(CASR):c.2429G>C (p.Ser810Thr)
NM_000388.4(CASR):c.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.2434C>T (p.Leu812Phe) rs1385228926
NM_000388.4(CASR):c.2436C>G (p.Leu812=)
NM_000388.4(CASR):c.2439C>A (p.Ile813=)
NM_000388.4(CASR):c.2439C>T (p.Ile813=) rs1228810304
NM_000388.4(CASR):c.2440TTC[1] (p.Phe815del)
NM_000388.4(CASR):c.2444T>C (p.Phe815Ser)
NM_000388.4(CASR):c.2446A>G (p.Ile816Val) rs2107650518
NM_000388.4(CASR):c.2448C>A (p.Ile816=) rs781343891
NM_000388.4(CASR):c.2448C>G (p.Ile816Met) rs781343891
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2449G>C (p.Val817Leu) rs1057518933
NM_000388.4(CASR):c.244_247del (p.Asn82fs)
NM_000388.4(CASR):c.2451C>T (p.Val817=)
NM_000388.4(CASR):c.2454G>T (p.Trp818Cys)
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala) rs2074939020
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe) rs104893710
NM_000388.4(CASR):c.2460C>T (p.Ser820=)
NM_000388.4(CASR):c.2461T>G (p.Phe821Val) rs2074939089
NM_000388.4(CASR):c.2464A>G (p.Ile822Val) rs2074939118
NM_000388.4(CASR):c.2465T>C (p.Ile822Thr) rs1553769120
NM_000388.4(CASR):c.2466T>C (p.Ile822=)
NM_000388.4(CASR):c.246C>G (p.Asn82Lys)
NM_000388.4(CASR):c.2470G>A (p.Ala824Thr) rs2107650576
NM_000388.4(CASR):c.2470G>C (p.Ala824Pro)
NM_000388.4(CASR):c.2471C>G (p.Ala824Gly) rs2074939274
NM_000388.4(CASR):c.2471C>T (p.Ala824Val) rs2074939274
NM_000388.4(CASR):c.2472C>T (p.Ala824=) rs2107650582
NM_000388.4(CASR):c.2475T>C (p.Tyr825=)
NM_000388.4(CASR):c.2477C>G (p.Ala826Gly) rs2074939465
NM_000388.4(CASR):c.2477C>T (p.Ala826Val) rs2074939465
NM_000388.4(CASR):c.2484C>A (p.Thr828=)
NM_000388.4(CASR):c.2487T>C (p.Tyr829=) rs2107650596
NM_000388.4(CASR):c.2490C>A (p.Gly830=)
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser) rs2107650603
NM_000388.4(CASR):c.2496T>C (p.Phe832=) rs2074939583
NM_000388.4(CASR):c.2497G>C (p.Val833Leu) rs1187496835
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) rs2074939751
NM_000388.4(CASR):c.2503G>C (p.Ala835Pro) rs2074939751
NM_000388.4(CASR):c.2505C>A (p.Ala835=)
NM_000388.4(CASR):c.2506G>A (p.Val836Ile)
NM_000388.4(CASR):c.2506G>C (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2508A>G (p.Val836=)
NM_000388.4(CASR):c.2509G>A (p.Glu837Lys)
NM_000388.4(CASR):c.250A>C (p.Ser84Arg) rs1559956545
NM_000388.4(CASR):c.2511G>A (p.Glu837=) rs2107650636
NM_000388.4(CASR):c.2511G>T (p.Glu837Asp)
NM_000388.4(CASR):c.2513T>C (p.Val838Ala)
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn) rs2107650645
NM_000388.4(CASR):c.2518del (p.Ala840fs)
NM_000388.4(CASR):c.2519C>T (p.Ala840Val) rs1553769127
NM_000388.4(CASR):c.2521A>T (p.Ile841Phe)
NM_000388.4(CASR):c.2526G>A (p.Leu842=) rs1457253066
NM_000388.4(CASR):c.2526G>T (p.Leu842=)
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000388.4(CASR):c.2530G>A (p.Ala844Thr)
NM_000388.4(CASR):c.2533A>C (p.Ser845Arg) rs1576878096
NM_000388.4(CASR):c.2533_2545del (p.Ser845fs) rs2107650671
NM_000388.4(CASR):c.2534G>A (p.Ser845Asn)
NM_000388.4(CASR):c.2535C>T (p.Ser845=)
NM_000388.4(CASR):c.2539G>A (p.Gly847Ser)
NM_000388.4(CASR):c.2545C>T (p.Leu849=)
NM_000388.4(CASR):c.2546T>A (p.Leu849Gln)
NM_000388.4(CASR):c.2546T>C (p.Leu849Pro) rs2074940343
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu) rs373819680
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.2549C>T (p.Ala850Val)
NM_000388.4(CASR):c.2552G>C (p.Cys851Ser)
NM_000388.4(CASR):c.2556C>T (p.Ile852=) rs1172993116
NM_000388.4(CASR):c.2559C>G (p.Phe853Leu) rs2074940685
NM_000388.4(CASR):c.2560T>A (p.Phe854Ile) rs565491972
NM_000388.4(CASR):c.2564A>G (p.Asn855Ser) rs2074940832
NM_000388.4(CASR):c.2565C>G (p.Asn855Lys)
NM_000388.4(CASR):c.2565C>T (p.Asn855=) rs760806852
NM_000388.4(CASR):c.2568G>A (p.Lys856=)
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn) rs766445416
NM_000388.4(CASR):c.2570T>G (p.Ile857Ser) rs766445416
NM_000388.4(CASR):c.2575A>C (p.Ile859Leu) rs1576878156
NM_000388.4(CASR):c.2575A>G (p.Ile859Val)
NM_000388.4(CASR):c.2576T>A (p.Ile859Asn) rs2107650756
NM_000388.4(CASR):c.2581C>G (p.Leu861Val) rs2074941334
NM_000388.4(CASR):c.2582T>C (p.Leu861Pro)
NM_000388.4(CASR):c.2583C>T (p.Leu861=) rs2107650764
NM_000388.4(CASR):c.2589G>A (p.Lys863=)
NM_000388.4(CASR):c.258C>A (p.Ala86=) rs1060504736
NM_000388.4(CASR):c.2592A>G (p.Pro864=)
NM_000388.4(CASR):c.2594C>G (p.Ser865Cys) rs2074941438
NM_000388.4(CASR):c.2594C>T (p.Ser865Phe) rs2074941438
NM_000388.4(CASR):c.2596C>T (p.Arg866Cys) rs1576878170
NM_000388.4(CASR):c.2597G>C (p.Arg866Pro) rs387907401
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu) rs387907401
NM_000388.4(CASR):c.2597_2598delinsTT (p.Arg866Leu) rs1553769144
NM_000388.4(CASR):c.2598C>T (p.Arg866=) rs2107650803
NM_000388.4(CASR):c.25G>T (p.Val9Phe)
NM_000388.4(CASR):c.2604C>G (p.Thr868=) rs957447440
NM_000388.4(CASR):c.2604C>T (p.Thr868=) rs957447440
NM_000388.4(CASR):c.2608G>A (p.Glu870Lys)
NM_000388.4(CASR):c.2614G>A (p.Val872Met)
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys) rs2074941878
NM_000388.4(CASR):c.2618G>A (p.Arg873His)
NM_000388.4(CASR):c.2618G>C (p.Arg873Pro) rs2107650838
NM_000388.4(CASR):c.2623A>C (p.Ser875Arg) rs2107650843
NM_000388.4(CASR):c.2625C>T (p.Ser875=) rs1313041878
NM_000388.4(CASR):c.2626_2633del (p.Thr876fs)
NM_000388.4(CASR):c.2627C>T (p.Thr876Ile) rs1576878212
NM_000388.4(CASR):c.2628C>A (p.Thr876=)
NM_000388.4(CASR):c.2628C>G (p.Thr876=)
NM_000388.4(CASR):c.2628C>T (p.Thr876=) rs758631679
NM_000388.4(CASR):c.2629G>A (p.Ala877Thr) rs2107650865
NM_000388.4(CASR):c.2631A>C (p.Ala877=)
NM_000388.4(CASR):c.2637C>A (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro) rs763865303
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) rs104893704
NM_000388.4(CASR):c.2645A>G (p.Lys882Arg) rs1553769162
NM_000388.4(CASR):c.264T>C (p.Leu88=) rs2107627524
NM_000388.4(CASR):c.2650G>T (p.Ala884Ser)
NM_000388.4(CASR):c.2651del (p.Ala884fs)
NM_000388.4(CASR):c.2652T>G (p.Ala884=)
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp) rs1559969429
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln) rs1057520791
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.2658G>A (p.Arg886=) rs2074942754
NM_000388.4(CASR):c.2658G>T (p.Arg886=)
NM_000388.4(CASR):c.2659G>A (p.Ala887Thr)
NM_000388.4(CASR):c.265C>A (p.Pro89Thr) rs2074563203
NM_000388.4(CASR):c.2660C>A (p.Ala887Asp)
NM_000388.4(CASR):c.2663C>T (p.Thr888Met)
NM_000388.4(CASR):c.2664G>A (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2664G>C (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2664G>T (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2665_2680del (p.Leu889fs) rs1576878270
NM_000388.4(CASR):c.266C>G (p.Pro89Arg)
NM_000388.4(CASR):c.2671C>T (p.Arg891Cys) rs1360294910
NM_000388.4(CASR):c.267C>T (p.Pro89=) rs2107627535
NM_000388.4(CASR):c.2680G>C (p.Val894Leu) rs200883282
NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del) rs1553769169
NM_000388.4(CASR):c.2684C>G (p.Ser895Cys) rs1553769171
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.2686del (p.Arg896fs) rs193922438
NM_000388.4(CASR):c.2688C>A (p.Arg896=) rs1037117955
NM_000388.4(CASR):c.2692C>T (p.Arg898Trp) rs747205055
NM_000388.4(CASR):c.2696C>G (p.Ser899Cys) rs2107651026
NM_000388.4(CASR):c.269A>G (p.Asn90Ser)
NM_000388.4(CASR):c.26T>A (p.Val9Asp)
NM_000388.4(CASR):c.2702G>A (p.Ser901Asn)
NM_000388.4(CASR):c.2707G>C (p.Gly903Arg)
NM_000388.4(CASR):c.2709A>G (p.Gly903=) rs1576878358
NM_000388.4(CASR):c.270C>T (p.Asn90=) rs201944670
NM_000388.4(CASR):c.2712C>T (p.Gly904=) rs1027208202
NM_000388.4(CASR):c.2713T>C (p.Ser905Pro) rs2107651054
NM_000388.4(CASR):c.2714C>T (p.Ser905Phe) rs1559969541
NM_000388.4(CASR):c.2717C>A (p.Thr906Lys) rs200357435
NM_000388.4(CASR):c.271T>C (p.Leu91=) rs200375728
NM_000388.4(CASR):c.2725A>G (p.Thr909Ala) rs1559969557
NM_000388.4(CASR):c.2726C>A (p.Thr909Asn) rs201067523
NM_000388.4(CASR):c.2726C>G (p.Thr909Ser)
NM_000388.4(CASR):c.2726C>T (p.Thr909Ile)
NM_000388.4(CASR):c.2727C>G (p.Thr909=)
NM_000388.4(CASR):c.2729C>G (p.Pro910Arg) rs1219288084
NM_000388.4(CASR):c.2730C>T (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2731TCC[4] (p.Ser913_Ile914insSer)
NM_000388.4(CASR):c.2736C>T (p.Ser912=) rs764332910
NM_000388.4(CASR):c.2739C>A (p.Ser913=) rs2074944827
NM_000388.4(CASR):c.2739C>T (p.Ser913=) rs2074944827
NM_000388.4(CASR):c.273G>A (p.Leu91=)
NM_000388.4(CASR):c.273G>C (p.Leu91Phe) rs2107627555
NM_000388.4(CASR):c.2741T>A (p.Ile914Asn)
NM_000388.4(CASR):c.2741T>C (p.Ile914Thr) rs2074944863
NM_000388.4(CASR):c.2742C>T (p.Ile914=) rs539528196
NM_000388.4(CASR):c.2744G>C (p.Ser915Thr) rs2107651117
NM_000388.4(CASR):c.2744GCA[3] (p.Ser916_Lys917insSer)
NM_000388.4(CASR):c.2749A>G (p.Lys917Glu)
NM_000388.4(CASR):c.2750A>G (p.Lys917Arg)
NM_000388.4(CASR):c.2759G>A (p.Ser920Asn) rs767241288
NM_000388.4(CASR):c.2760C>T (p.Ser920=) rs749958063
NM_000388.4(CASR):c.2763A>G (p.Glu921=)
NM_000388.4(CASR):c.276G>T (p.Thr92=) rs201013419
NM_000388.4(CASR):c.2770T>C (p.Phe924Leu) rs778591886
NM_000388.4(CASR):c.2770T>G (p.Phe924Val)
NM_000388.4(CASR):c.2771T>C (p.Phe924Ser)
NM_000388.4(CASR):c.2772C>T (p.Phe924=)
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter) rs2107651172
NM_000388.4(CASR):c.277C>T (p.Leu93=) rs201153680
NM_000388.4(CASR):c.2780C>T (p.Pro927Leu)
NM_000388.4(CASR):c.2780_2857dup (p.Pro927_Gln952dup) rs1576878469
NM_000388.4(CASR):c.2781C>G (p.Pro927=) rs771142444
NM_000388.4(CASR):c.2781C>T (p.Pro927=)
NM_000388.4(CASR):c.2783A>G (p.Glu928Gly)
NM_000388.4(CASR):c.2784G>C (p.Glu928Asp)
NM_000388.4(CASR):c.2785A>G (p.Arg929Gly)
NM_000388.4(CASR):c.2788C>G (p.Gln930Glu) rs2074945839
NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del)
NM_000388.4(CASR):c.2792AGC[6] (p.Gln934_Pro935insGlnGln)
NM_000388.4(CASR):c.2794C>G (p.Gln932Glu) rs2107651215
NM_000388.4(CASR):c.2795A>C (p.Gln932Pro)
NM_000388.4(CASR):c.2801A>C (p.Gln934Pro)
NM_000388.4(CASR):c.2803C>T (p.Pro935Ser)
NM_000388.4(CASR):c.2804C>T (p.Pro935Leu) rs201950717
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2805G>A (p.Pro935=) rs1358539214
NM_000388.4(CASR):c.2805G>C (p.Pro935=)
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
NM_000388.4(CASR):c.2810C>T (p.Ala937Val)
NM_000388.4(CASR):c.2812C>A (p.Leu938Ile) rs2074946372
NM_000388.4(CASR):c.2814A>C (p.Leu938=) rs2107651263
NM_000388.4(CASR):c.2817C>T (p.Thr939=) rs1576878565
NM_000388.4(CASR):c.2818C>T (p.Gln940Ter) rs1576878568
NM_000388.4(CASR):c.281G>A (p.Gly94Glu) rs1576854356
NM_000388.4(CASR):c.2821C>G (p.Gln941Glu) rs2107651279
NM_000388.4(CASR):c.2825AGC[4] (p.Gln946del)
NM_000388.4(CASR):c.2825AGC[6] (p.Gln946dup) rs747740545
NM_000388.4(CASR):c.2825AGC[7] (p.Gln946_Pro947insGlnGln)
NM_000388.4(CASR):c.2826G>A (p.Glu942=) rs2107651299
NM_000388.4(CASR):c.2826G>T (p.Glu942Asp) rs2107651299
NM_000388.4(CASR):c.282A>G (p.Gly94=)
NM_000388.4(CASR):c.282A>T (p.Gly94=)
NM_000388.4(CASR):c.2830C>A (p.Gln944Lys) rs2107651308
NM_000388.4(CASR):c.2830C>T (p.Gln944Ter)
NM_000388.4(CASR):c.2831A>G (p.Gln944Arg)
NM_000388.4(CASR):c.2833C>A (p.Gln945Lys) rs2107651317
NM_000388.4(CASR):c.2840C>A (p.Pro947His) rs767292478
NM_000388.4(CASR):c.2840_2860dup (p.Pro947_Gln953dup) rs2074946815
NM_000388.4(CASR):c.2841C>G (p.Pro947=) rs1553769221
NM_000388.4(CASR):c.2842_2880dup (p.Leu948_Pro960dup) rs1559969726
NM_000388.4(CASR):c.2844G>C (p.Leu948=) rs140586950
NM_000388.4(CASR):c.2845A>G (p.Thr949Ala)
NM_000388.4(CASR):c.2846C>A (p.Thr949Asn)
NM_000388.4(CASR):c.284A>G (p.Tyr95Cys) rs1060502850
NM_000388.4(CASR):c.2852C>G (p.Pro951Arg)
NM_000388.4(CASR):c.2852C>T (p.Pro951Leu)
NM_000388.4(CASR):c.2853A>G (p.Pro951=)
NM_000388.4(CASR):c.2856G>A (p.Gln952=) rs2074947335
NM_000388.4(CASR):c.2863C>T (p.Arg955Ter) rs2074947445
NM_000388.4(CASR):c.2864G>A (p.Arg955Gln) rs866599196
NM_000388.4(CASR):c.2866T>G (p.Ser956Ala) rs1559969778
NM_000388.4(CASR):c.2867C>A (p.Ser956Tyr) rs2074947543
NM_000388.4(CASR):c.286A>C (p.Arg96=) rs2107627583
NM_000388.4(CASR):c.2870AGC[2] (p.Gln959del) rs2107651405
NM_000388.4(CASR):c.2872C>A (p.Gln958Lys) rs2074947724
NM_000388.4(CASR):c.2874G>A (p.Gln958=) rs2074947758
NM_000388.4(CASR):c.2875C>A (p.Gln959Lys) rs2107651420
NM_000388.4(CASR):c.2877del (p.Gln959fs) rs2107651423
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser) rs1352202616
NM_000388.4(CASR):c.2879C>T (p.Pro960Leu)
NM_000388.4(CASR):c.2881A>G (p.Arg961Gly) rs2074947830
NM_000388.4(CASR):c.2888A>G (p.Lys963Arg)
NM_000388.4(CASR):c.2888_*474del (p.Lys963fs)
NM_000388.4(CASR):c.2889G>C (p.Lys963Asn) rs1060502859
NM_000388.4(CASR):c.2889G>T (p.Lys963Asn)
NM_000388.4(CASR):c.288G>A (p.Arg96=) rs375151193
NM_000388.4(CASR):c.2890C>G (p.Gln964Glu) rs2074948026
NM_000388.4(CASR):c.2895G>A (p.Lys965=) rs1251254766
NM_000388.4(CASR):c.2895G>T (p.Lys965Asn) rs1251254766
NM_000388.4(CASR):c.2898C>T (p.Val966=) rs1576878768
NM_000388.4(CASR):c.28C>A (p.Leu10Ile) rs1327682547
NM_000388.4(CASR):c.28C>T (p.Leu10Phe) rs1327682547
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2901C>T (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2903T>C (p.Phe968Ser) rs2107651496
NM_000388.4(CASR):c.2904T>C (p.Phe968=) rs769965955
NM_000388.4(CASR):c.2904T>G (p.Phe968Leu)
NM_000388.4(CASR):c.2904_2924del (p.Gly969_Phe975del) rs2074948607
NM_000388.4(CASR):c.2905G>A (p.Gly969Ser)
NM_000388.4(CASR):c.2909G>A (p.Ser970Asn)
NM_000388.4(CASR):c.2910C>T (p.Ser970=) rs200686461
NM_000388.4(CASR):c.2915C>G (p.Thr972Arg)
NM_000388.4(CASR):c.2919C>A (p.Val973=)
NM_000388.4(CASR):c.291A>G (p.Ile97Met) rs1370844938
NM_000388.4(CASR):c.2938del (p.Asp980fs)
NM_000388.4(CASR):c.293T>A (p.Phe98Tyr) rs2074563967
NM_000388.4(CASR):c.293T>C (p.Phe98Ser) rs2074563967
NM_000388.4(CASR):c.2942A>T (p.Glu981Val) rs766653315
NM_000388.4(CASR):c.2944C>A (p.Pro982Thr) rs387907395
NM_000388.4(CASR):c.2945C>G (p.Pro982Arg)
NM_000388.4(CASR):c.2948A>G (p.Gln983Arg) rs878853975
NM_000388.4(CASR):c.2949G>A (p.Gln983=)
NM_000388.4(CASR):c.2949GAA[1] (p.Lys984del)
NM_000388.4(CASR):c.294T>G (p.Phe98Leu) rs878853976
NM_000388.4(CASR):c.2951A>G (p.Lys984Arg) rs1553769261
NM_000388.4(CASR):c.2952G>A (p.Lys984=) rs2107651573
NM_000388.4(CASR):c.2952G>C (p.Lys984Asn)
NM_000388.4(CASR):c.2955_2956delinsTT (p.Ala986Ser) rs2107651579
NM_000388.4(CASR):c.2956G>A (p.Ala986Thr) rs1801725
NM_000388.4(CASR):c.2957C>A (p.Ala986Asp) rs1268409560
NM_000388.4(CASR):c.2959A>G (p.Met987Val) rs2107651596
NM_000388.4(CASR):c.2960T>G (p.Met987Arg) rs2074949750
NM_000388.4(CASR):c.2961G>A (p.Met987Ile)
NM_000388.4(CASR):c.2963C>T (p.Ala988Val)
NM_000388.4(CASR):c.296A>T (p.Asp99Val) rs2107627605
NM_000388.4(CASR):c.2971A>C (p.Asn991His) rs1553769276
NM_000388.4(CASR):c.2973T>A (p.Asn991Lys)
NM_000388.4(CASR):c.2973T>C (p.Asn991=) rs1257108488
NM_000388.4(CASR):c.2976T>C (p.Ser992=) rs2107651635
NM_000388.4(CASR):c.2979G>A (p.Thr993=) rs917914806
NM_000388.4(CASR):c.2979G>C (p.Thr993=)
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.2981A>C (p.His994Pro)
NM_000388.4(CASR):c.2983C>A (p.Gln995Lys)
NM_000388.4(CASR):c.2985G>C (p.Gln995His) rs201341173
NM_000388.4(CASR):c.2986A>C (p.Asn996His) rs2074950435
NM_000388.4(CASR):c.298A>T (p.Thr100Ser) rs1433686492
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
NM_000388.4(CASR):c.2990C>G (p.Ser997Cys) rs1244383237
NM_000388.4(CASR):c.2990C>T (p.Ser997Phe)
NM_000388.4(CASR):c.2993T>A (p.Leu998Gln)
NM_000388.4(CASR):c.2995G>A (p.Glu999Lys) rs2074950648
NM_000388.4(CASR):c.2996A>C (p.Glu999Ala) rs201052958
NM_000388.4(CASR):c.2996A>G (p.Glu999Gly) rs201052958
NM_000388.4(CASR):c.2996A>T (p.Glu999Val) rs201052958
NM_000388.4(CASR):c.2998G>A (p.Ala1000Thr)
NM_000388.4(CASR):c.2T>C (p.Met1Thr)
NM_000388.4(CASR):c.2T>G (p.Met1Arg)
NM_000388.4(CASR):c.3000C>G (p.Ala1000=) rs2107651678
NM_000388.4(CASR):c.3001C>G (p.Gln1001Glu) rs756322971
NM_000388.4(CASR):c.3001C>T (p.Gln1001Ter)
NM_000388.4(CASR):c.3002A>C (p.Gln1001Pro) rs1176923284
NM_000388.4(CASR):c.3004A>C (p.Lys1002Gln) rs1467916973
NM_000388.4(CASR):c.3004A>G (p.Lys1002Glu) rs1467916973
NM_000388.4(CASR):c.3008G>A (p.Ser1003Asn) rs2074950882
NM_000388.4(CASR):c.300T>G (p.Thr100=) rs2107627615
NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg) rs780255825
NM_000388.4(CASR):c.3010A>T (p.Ser1004Cys) rs780255825
NM_000388.4(CASR):c.3013G>C (p.Asp1005His) rs201990892
NM_000388.4(CASR):c.3018G>T (p.Thr1006=) rs748637478
NM_000388.4(CASR):c.3020T>A (p.Leu1007Gln) rs200238591
NM_000388.4(CASR):c.3021G>T (p.Leu1007=)
NM_000388.4(CASR):c.3022A>C (p.Thr1008Pro)
NM_000388.4(CASR):c.3025C>G (p.Arg1009Gly) rs1256856876
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter) rs1256856876
NM_000388.4(CASR):c.3029A>G (p.His1010Arg) rs547957679
NM_000388.4(CASR):c.302G>C (p.Cys101Ser)
NM_000388.4(CASR):c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln) rs386665242
NM_000388.4(CASR):c.3033G>A (p.Glu1011=)
NM_000388.4(CASR):c.3034C>A (p.Pro1012Thr) rs763977493
NM_000388.4(CASR):c.3034C>G (p.Pro1012Ala)
NM_000388.4(CASR):c.3035C>A (p.Pro1012Gln) rs1576879134
NM_000388.4(CASR):c.3036A>G (p.Pro1012=)
NM_000388.4(CASR):c.303C>T (p.Cys101=) rs754033243
NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile) rs202219108
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe) rs202219108
NM_000388.4(CASR):c.3042C>A (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3042C>G (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3042C>T (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3044del (p.Pro1015fs) rs2074952162
NM_000388.4(CASR):c.3047T>C (p.Leu1016Pro) rs755151413
NM_000388.4(CASR):c.3048G>A (p.Leu1016=)
NM_000388.4(CASR):c.3050A>C (p.Gln1017Pro) rs779116209
NM_000388.4(CASR):c.3052T>C (p.Cys1018Arg)
NM_000388.4(CASR):c.3052T>G (p.Cys1018Gly)
NM_000388.4(CASR):c.3056G>A (p.Gly1019Glu)
NM_000388.4(CASR):c.3058G>C (p.Glu1020Gln) rs1060502858
NM_000388.4(CASR):c.3058del (p.Glu1020fs)
NM_000388.4(CASR):c.3062C>A (p.Thr1021Lys) rs759009566
NM_000388.4(CASR):c.3062C>G (p.Thr1021Arg) rs759009566
NM_000388.4(CASR):c.3062C>T (p.Thr1021Met) rs759009566
NM_000388.4(CASR):c.3063G>A (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3063G>C (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn) rs2107651862
NM_000388.4(CASR):c.3069A>G (p.Leu1023=)
NM_000388.4(CASR):c.306C>T (p.Asn102=)
NM_000388.4(CASR):c.3070G>T (p.Asp1024Tyr) rs2107651875
NM_000388.4(CASR):c.3072T>C (p.Asp1024=)
NM_000388.4(CASR):c.3073C>G (p.Leu1025Val)
NM_000388.4(CASR):c.3078C>A (p.Thr1026=) rs771319302
NM_000388.4(CASR):c.3082C>T (p.Gln1028Ter) rs1290267062
NM_000388.4(CASR):c.3082del (p.Gln1028fs) rs2107651889
NM_000388.4(CASR):c.3083A>G (p.Gln1028Arg) rs2074953171
NM_000388.4(CASR):c.3085G>A (p.Glu1029Lys) rs2107651900
NM_000388.4(CASR):c.3086A>C (p.Glu1029Ala) rs2107651904
NM_000388.4(CASR):c.3086A>G (p.Glu1029Gly)
NM_000388.4(CASR):c.3087A>T (p.Glu1029Asp) rs200786703
NM_000388.4(CASR):c.3088A>G (p.Thr1030Ala) rs2074953253
NM_000388.4(CASR):c.3088dup (p.Thr1030fs) rs2107651905
NM_000388.4(CASR):c.3089C>G (p.Thr1030Arg) rs2107651914
NM_000388.4(CASR):c.3089C>T (p.Thr1030Ile)
NM_000388.4(CASR):c.3090A>G (p.Thr1030=)
NM_000388.4(CASR):c.3093T>A (p.Gly1031=)
NM_000388.4(CASR):c.3093T>C (p.Gly1031=) rs1576879215
NM_000388.4(CASR):c.3096G>A (p.Leu1032=)
NM_000388.4(CASR):c.3096G>T (p.Leu1032=) rs2107651933
NM_000388.4(CASR):c.309C>G (p.Thr103=)
NM_000388.4(CASR):c.309C>T (p.Thr103=) rs373057548
NM_000388.4(CASR):c.3100G>A (p.Gly1034Arg)
NM_000388.4(CASR):c.3104C>A (p.Pro1035His)
NM_000388.4(CASR):c.3106G>A (p.Val1036Met)
NM_000388.4(CASR):c.310G>A (p.Val104Ile) rs2074564250
NM_000388.4(CASR):c.3112G>T (p.Gly1038Ter) rs764032437
NM_000388.4(CASR):c.3114A>G (p.Gly1038=) rs2107651950
NM_000388.4(CASR):c.3118C>T (p.Gln1040Ter) rs1007139212
NM_000388.4(CASR):c.3120G>A (p.Gln1040=)
NM_000388.4(CASR):c.3120G>T (p.Gln1040His) rs2107651962
NM_000388.4(CASR):c.3121C>A (p.Arg1041=) rs193921082
NM_000388.4(CASR):c.3122G>A (p.Arg1041Gln) rs761580803
NM_000388.4(CASR):c.3124C>G (p.Pro1042Ala) rs2074953862
NM_000388.4(CASR):c.3124C>T (p.Pro1042Ser) rs2074953862
NM_000388.4(CASR):c.3133G>A (p.Glu1045Lys) rs2074954067
NM_000388.4(CASR):c.3135G>A (p.Glu1045=)
NM_000388.4(CASR):c.3135G>C (p.Glu1045Asp) rs765519865
NM_000388.4(CASR):c.3138C>A (p.Asp1046Glu) rs878853977
NM_000388.4(CASR):c.3138C>T (p.Asp1046=) rs878853977
NM_000388.4(CASR):c.3142G>A (p.Glu1048Lys) rs758535387
NM_000388.4(CASR):c.3145G>T (p.Glu1049Ter) rs2107652017
NM_000388.4(CASR):c.3150G>A (p.Leu1050=)
NM_000388.4(CASR):c.3150G>C (p.Leu1050Phe) rs2107652019
NM_000388.4(CASR):c.3153C>T (p.Ser1051=) rs1576879292
NM_000388.4(CASR):c.315T>C (p.Ser105=) rs2107627628
NM_000388.4(CASR):c.3163G>A (p.Val1055Ile) rs1245761983
NM_000388.4(CASR):c.3166G>C (p.Val1056Leu) rs2074954670
NM_000388.4(CASR):c.3167T>C (p.Val1056Ala)
NM_000388.4(CASR):c.3169T>A (p.Ser1057Thr) rs1553769334
NM_000388.4(CASR):c.3169T>C (p.Ser1057Pro)
NM_000388.4(CASR):c.316A>G (p.Lys106Glu)
NM_000388.4(CASR):c.3172A>G (p.Ser1058Gly) rs2074954886
NM_000388.4(CASR):c.3173G>A (p.Ser1058Asn)
NM_000388.4(CASR):c.3180G>C (p.Gln1060His) rs2107652073
NM_000388.4(CASR):c.3182G>A (p.Ser1061Asn) rs2074954983
NM_000388.4(CASR):c.318G>A (p.Lys106=)
NM_000388.4(CASR):c.3190A>G (p.Ile1064Val) rs2107652087
NM_000388.4(CASR):c.3194G>A (p.Ser1065Asn) rs999978032
NM_000388.4(CASR):c.3197G>T (p.Gly1066Val) rs769439564
NM_000388.4(CASR):c.3199G>A (p.Gly1067Arg)
NM_000388.4(CASR):c.319G>A (p.Ala107Thr)
NM_000388.4(CASR):c.3200G>A (p.Gly1067Glu) rs2107652105
NM_000388.4(CASR):c.3201A>G (p.Gly1067=) rs146918302
NM_000388.4(CASR):c.3203G>A (p.Gly1068Asp) rs1193543664
NM_000388.4(CASR):c.3203G>C (p.Gly1068Ala)
NM_000388.4(CASR):c.3204C>G (p.Gly1068=) rs373902031
NM_000388.4(CASR):c.3204C>T (p.Gly1068=) rs373902031
NM_000388.4(CASR):c.3207del (p.Ser1069fs) rs2107652125
NM_000388.4(CASR):c.3211G>A (p.Val1071Ile) rs1576879357
NM_000388.4(CASR):c.3215C>T (p.Thr1072Ile) rs2107652135
NM_000388.4(CASR):c.3216A>C (p.Thr1072=) rs1259584809
NM_000388.4(CASR):c.321C>T (p.Ala107=)
NM_000388.4(CASR):c.3221del (p.Asn1074fs) rs2074955500
NM_000388.4(CASR):c.3222C>T (p.Asn1074=)
NM_000388.4(CASR):c.3223G>A (p.Val1075Ile) rs748855270
NM_000388.4(CASR):c.3223G>T (p.Val1075Leu) rs748855270
NM_000388.4(CASR):c.3224T>C (p.Val1075Ala) rs2107652158
NM_000388.4(CASR):c.322T>C (p.Leu108=) rs1553766241
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3236A>G (p.Ter1079=) rs1060504735
NM_000388.4(CASR):c.323T>C (p.Leu108Ser) rs1553766242
NM_000388.4(CASR):c.328G>C (p.Ala110Pro)
NM_000388.4(CASR):c.329C>A (p.Ala110Asp) rs1559956624
NM_000388.4(CASR):c.329C>T (p.Ala110Val)
NM_000388.4(CASR):c.335T>C (p.Leu112Pro) rs2107627647
NM_000388.4(CASR):c.33G>A (p.Leu11=) rs1302047092
NM_000388.4(CASR):c.341T>C (p.Phe114Ser) rs1553766245
NM_000388.4(CASR):c.345T>C (p.Val115=)
NM_000388.4(CASR):c.346G>A (p.Ala116Thr) rs104893691
NM_000388.4(CASR):c.347C>G (p.Ala116Gly)
NM_000388.4(CASR):c.349C>T (p.Gln117Ter) rs2107627659
NM_000388.4(CASR):c.350A>C (p.Gln117Pro) rs2074564685
NM_000388.4(CASR):c.352A>G (p.Asn118Asp)
NM_000388.4(CASR):c.354C>A (p.Asn118Lys) rs104893695
NM_000388.4(CASR):c.354C>T (p.Asn118=) rs104893695
NM_000388.4(CASR):c.357_358del (p.Lys119fs) rs2107627671
NM_000388.4(CASR):c.360T>G (p.Ile120Met) rs1576854465
NM_000388.4(CASR):c.361G>C (p.Asp121His) rs2074564785
NM_000388.4(CASR):c.363T>C (p.Asp121=)
NM_000388.4(CASR):c.365C>A (p.Ser122Tyr) rs778201006
NM_000388.4(CASR):c.365C>T (p.Ser122Phe)
NM_000388.4(CASR):c.367T>A (p.Leu123Met) rs2107627702
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.372C>G (p.Asn124Lys)
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.375TGA[1] (p.Asp126del)
NM_000388.4(CASR):c.377A>T (p.Asp126Val) rs1553766257
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.381G>A (p.Glu127=) rs2074565277
NM_000388.4(CASR):c.382T>A (p.Phe128Ile) rs104893696
NM_000388.4(CASR):c.382T>C (p.Phe128Leu) rs104893696
NM_000388.4(CASR):c.384C>G (p.Phe128Leu) rs1553766262
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) rs2074565392
NM_000388.4(CASR):c.394T>A (p.Ser132Thr)
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
NM_000388.4(CASR):c.395C>T (p.Ser132Leu) rs1060502857
NM_000388.4(CASR):c.396A>G (p.Ser132=) rs1060504737
NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del) rs1559956683
NM_000388.4(CASR):c.399G>C (p.Glu133Asp)
NM_000388.4(CASR):c.400C>T (p.His134Tyr) rs2074565597
NM_000388.4(CASR):c.402C>T (p.His134=)
NM_000388.4(CASR):c.408C>T (p.Pro136=)
NM_000388.4(CASR):c.411T>C (p.Ser137=)
NM_000388.4(CASR):c.412A>G (p.Thr138Ala)
NM_000388.4(CASR):c.413C>G (p.Thr138Arg)
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.414G>A (p.Thr138=) rs984531247
NM_000388.4(CASR):c.416T>C (p.Ile139Thr) rs1060502860
NM_000388.4(CASR):c.41C>A (p.Thr14Asn) rs1235999733
NM_000388.4(CASR):c.41C>T (p.Thr14Ile) rs1235999733
NM_000388.4(CASR):c.420T>C (p.Ala140=) rs2107627779
NM_000388.4(CASR):c.421G>A (p.Val141Met)
NM_000388.4(CASR):c.423G>A (p.Val141=) rs2074565871
NM_000388.4(CASR):c.426G>A (p.Val142=) rs201839033
NM_000388.4(CASR):c.426G>C (p.Val142=) rs201839033
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.42C>T (p.Thr14=) rs2107624779
NM_000388.4(CASR):c.42_48del (p.Trp15fs)
NM_000388.4(CASR):c.434C>T (p.Thr145Ile)
NM_000388.4(CASR):c.437G>A (p.Gly146Asp) rs2107627807
NM_000388.4(CASR):c.441A>G (p.Ser147=) rs908914926
NM_000388.4(CASR):c.442G>A (p.Gly148Ser)
NM_000388.4(CASR):c.446T>C (p.Val149Ala)
NM_000388.4(CASR):c.448_449dup (p.Thr151fs) rs1576854561
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.450C>T (p.Ser150=)
NM_000388.4(CASR):c.452C>T (p.Thr151Met) rs104893694
NM_000388.4(CASR):c.456A>G (p.Ala152=) rs201137966
NM_000388.4(CASR):c.457G>A (p.Val153Met)
NM_000388.4(CASR):c.458T>A (p.Val153Glu)
NM_000388.4(CASR):c.459G>C (p.Val153=) rs2107627855
NM_000388.4(CASR):c.460G>A (p.Ala154Thr)
NM_000388.4(CASR):c.460G>C (p.Ala154Pro) rs1559956753
NM_000388.4(CASR):c.462A>T (p.Ala154=)
NM_000388.4(CASR):c.463A>G (p.Asn155Asp) rs1553766282
NM_000388.4(CASR):c.464A>T (p.Asn155Ile)
NM_000388.4(CASR):c.465T>C (p.Asn155=) rs2074566629
NM_000388.4(CASR):c.467T>C (p.Leu156Pro) rs2107627878
NM_000388.4(CASR):c.46C>T (p.His16Tyr)
NM_000388.4(CASR):c.473G>A (p.Gly158Glu) rs2074566747
NM_000388.4(CASR):c.474G>C (p.Gly158=) rs892809123
NM_000388.4(CASR):c.474G>T (p.Gly158=) rs892809123
NM_000388.4(CASR):c.475C>G (p.Leu159Val) rs767329910
NM_000388.4(CASR):c.479T>C (p.Phe160Ser) rs2074566896
NM_000388.4(CASR):c.484A>G (p.Ile162Val)
NM_000388.4(CASR):c.486T>C (p.Ile162=) rs776784152
NM_000388.4(CASR):c.489C>T (p.Pro163=)
NM_000388.4(CASR):c.491A>G (p.Gln164Arg) rs2074567065
NM_000388.4(CASR):c.492+10C>T rs906977634
NM_000388.4(CASR):c.492+13T>G rs148131335
NM_000388.4(CASR):c.492+18_492+19delinsCA rs2107627947
NM_000388.4(CASR):c.492+19_492+20delinsAA rs2107627953
NM_000388.4(CASR):c.492+19_492+20delinsAG rs2107627953
NM_000388.4(CASR):c.492+19_492+20delinsAT rs2107627953
NM_000388.4(CASR):c.492+2T>C
NM_000388.4(CASR):c.492+4C>T
NM_000388.4(CASR):c.492+6C>T rs765346357
NM_000388.4(CASR):c.492+8A>C
NM_000388.4(CASR):c.492+8A>G
NM_000388.4(CASR):c.492G>A (p.Gln164=) rs2107627922
NM_000388.4(CASR):c.493-10T>C
NM_000388.4(CASR):c.493-12G>A rs199514129
NM_000388.4(CASR):c.493-12G>T rs199514129
NM_000388.4(CASR):c.493-17T>G rs2107631652
NM_000388.4(CASR):c.493-2A>C rs1576857818
NM_000388.4(CASR):c.493-2A>G rs1576857818
NM_000388.4(CASR):c.493-4C>T rs2107631674
NM_000388.4(CASR):c.493G>A (p.Val165Ile)
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000388.4(CASR):c.495C>T (p.Val165=)
NM_000388.4(CASR):c.496A>C (p.Ser166Arg) rs193922441
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) rs193922441
NM_000388.4(CASR):c.497G>A (p.Ser166Asn)
NM_000388.4(CASR):c.499T>G (p.Tyr167Asp) rs1064795096
NM_000388.4(CASR):c.501T>C (p.Tyr167=) rs387907394
NM_000388.4(CASR):c.502G>T (p.Ala168Ser) rs1471755600
NM_000388.4(CASR):c.503C>A (p.Ala168Asp) rs1576857840
NM_000388.4(CASR):c.505T>C (p.Ser169Pro) rs1553766709
NM_000388.4(CASR):c.507C>G (p.Ser169=) rs2107631712
NM_000388.4(CASR):c.507C>T (p.Ser169=) rs2107631712
NM_000388.4(CASR):c.508T>C (p.Ser170Pro) rs1060502862
NM_000388.4(CASR):c.50C>T (p.Thr17Ile) rs1424489717
NM_000388.4(CASR):c.511A>G (p.Ser171Gly)
NM_000388.4(CASR):c.513C>A (p.Ser171Arg) rs764149433
NM_000388.4(CASR):c.513C>T (p.Ser171=)
NM_000388.4(CASR):c.514A>G (p.Arg172Gly) rs201851934
NM_000388.4(CASR):c.519C>T (p.Leu173=)
NM_000388.4(CASR):c.521T>C (p.Leu174Pro)
NM_000388.4(CASR):c.522C>G (p.Leu174=) rs2107631739
NM_000388.4(CASR):c.523A>G (p.Ser175Gly) rs2107631742
NM_000388.4(CASR):c.524G>A (p.Ser175Asn)
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.528C>A (p.Asn176Lys) rs762352492
NM_000388.4(CASR):c.528C>T (p.Asn176=) rs762352492
NM_000388.4(CASR):c.528del (p.Asn176fs) rs2107631756
NM_000388.4(CASR):c.531G>T (p.Lys177Asn) rs2074621897
NM_000388.4(CASR):c.532A>G (p.Asn178Asp) rs1060502855
NM_000388.4(CASR):c.532A>T (p.Asn178Tyr) rs1060502855
NM_000388.4(CASR):c.534T>A (p.Asn178Lys)
NM_000388.4(CASR):c.536A>G (p.Gln179Arg) rs878928634
NM_000388.4(CASR):c.540C>T (p.Phe180=)
NM_000388.4(CASR):c.543G>A (p.Lys181=) rs2074622150
NM_000388.4(CASR):c.545C>G (p.Ser182Cys)
NM_000388.4(CASR):c.545C>T (p.Ser182Phe) rs1576857952
NM_000388.4(CASR):c.547_548del (p.Phe183fs) rs2107631801
NM_000388.4(CASR):c.549C>G (p.Phe183Leu) rs779857648
NM_000388.4(CASR):c.549C>T (p.Phe183=)
NM_000388.4(CASR):c.54T>G (p.Ser18=) rs558522564
NM_000388.4(CASR):c.550C>G (p.Leu184Val) rs1576857982
NM_000388.4(CASR):c.550C>T (p.Leu184Phe) rs1576857982
NM_000388.4(CASR):c.551T>G (p.Leu184Arg)
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.554G>T (p.Arg185Leu) rs104893689
NM_000388.4(CASR):c.554del (p.Arg185fs) rs193922442
NM_000388.4(CASR):c.555A>T (p.Arg185=) rs1576858013
NM_000388.4(CASR):c.558C>A (p.Thr186=)
NM_000388.4(CASR):c.558C>T (p.Thr186=)
NM_000388.4(CASR):c.55G>C (p.Ala19Pro) rs2074528751
NM_000388.4(CASR):c.560T>A (p.Ile187Asn)
NM_000388.4(CASR):c.560T>C (p.Ile187Thr)
NM_000388.4(CASR):c.562C>A (p.Pro188Thr) rs778535491
NM_000388.4(CASR):c.564C>A (p.Pro188=)
NM_000388.4(CASR):c.565A>C (p.Asn189His) rs2107631843
NM_000388.4(CASR):c.566A>T (p.Asn189Ile) rs762998933
NM_000388.4(CASR):c.566_567delinsTC (p.Asn189Ile)
NM_000388.4(CASR):c.567T>C (p.Asn189=) rs2074622837
NM_000388.4(CASR):c.568G>A (p.Asp190Asn)
NM_000388.4(CASR):c.569A>G (p.Asp190Gly)
NM_000388.4(CASR):c.571G>A (p.Glu191Lys) rs104893697
NM_000388.4(CASR):c.574C>A (p.His192Asn) rs2107631878
NM_000388.4(CASR):c.576C>G (p.His192Gln)
NM_000388.4(CASR):c.577C>A (p.Gln193Lys)
NM_000388.4(CASR):c.577C>T (p.Gln193Ter) rs1064793992
NM_000388.4(CASR):c.587C>T (p.Ala196Val) rs1553766728
NM_000388.4(CASR):c.589A>C (p.Met197Leu)
NM_000388.4(CASR):c.590T>A (p.Met197Lys) rs774235352
NM_000388.4(CASR):c.590T>G (p.Met197Arg) rs774235352
NM_000388.4(CASR):c.591G>A (p.Met197Ile)
NM_000388.4(CASR):c.594A>G (p.Ala198=) rs1369140529
NM_000388.4(CASR):c.597C>T (p.Asp199=)
NM_000388.4(CASR):c.603C>T (p.Ile201=) rs770651757
NM_000388.4(CASR):c.604G>A (p.Glu202Lys) rs1430623191
NM_000388.4(CASR):c.610T>A (p.Phe204Ile) rs1060499700
NM_000388.4(CASR):c.610T>C (p.Phe204Leu) rs1060499700
NM_000388.4(CASR):c.613C>G (p.Arg205Gly) rs775751453
NM_000388.4(CASR):c.614G>C (p.Arg205Pro) rs763162046
NM_000388.4(CASR):c.614G>T (p.Arg205Leu) rs763162046
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
NM_000388.4(CASR):c.621C>T (p.Asn207=) rs2107631955
NM_000388.4(CASR):c.621del (p.Trp208fs)
NM_000388.4(CASR):c.623G>C (p.Trp208Ser) rs2074623917
NM_000388.4(CASR):c.626T>C (p.Val209Ala)
NM_000388.4(CASR):c.628G>T (p.Gly210Cys) rs2107631971
NM_000388.4(CASR):c.630C>G (p.Gly210=) rs1340558108
NM_000388.4(CASR):c.632C>T (p.Thr211Ile) rs2074624103
NM_000388.4(CASR):c.633A>G (p.Thr211=) rs2107631986
NM_000388.4(CASR):c.634A>G (p.Ile212Val) rs2074624132
NM_000388.4(CASR):c.635T>C (p.Ile212Thr) rs1576858127
NM_000388.4(CASR):c.636T>C (p.Ile212=) rs1226146501
NM_000388.4(CASR):c.638C>T (p.Ala213Val) rs1559958979
NM_000388.4(CASR):c.63G>A (p.Gly21=) rs966820424
NM_000388.4(CASR):c.63G>C (p.Gly21=) rs966820424
NM_000388.4(CASR):c.641C>G (p.Ala214Gly)
NM_000388.4(CASR):c.643G>A (p.Asp215Asn)
NM_000388.4(CASR):c.646G>A (p.Asp216Asn) rs768766649
NM_000388.4(CASR):c.648C>T (p.Asp216=) rs774470582
NM_000388.4(CASR):c.652T>A (p.Tyr218Asn)
NM_000388.4(CASR):c.652T>C (p.Tyr218His) rs1057520583
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.654T>C (p.Tyr218=) rs1576858172
NM_000388.4(CASR):c.655G>T (p.Gly219Trp) rs2107632049
NM_000388.4(CASR):c.658C>A (p.Arg220=)
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.659G>C (p.Arg220Pro)
NM_000388.4(CASR):c.660G>T (p.Arg220=)
NM_000388.4(CASR):c.661C>T (p.Pro221Ser)
NM_000388.4(CASR):c.662C>A (p.Pro221Gln) rs397514728
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.665G>A (p.Gly222Glu)
NM_000388.4(CASR):c.666G>A (p.Gly222=) rs2107632070
NM_000388.4(CASR):c.666del (p.Ile223fs) rs2107632061
NM_000388.4(CASR):c.66A>G (p.Pro22=) rs2107624825
NM_000388.4(CASR):c.672G>C (p.Glu224Asp)
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.67G>A (p.Asp23Asn) rs2107624826
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.682G>C (p.Glu228Gln)
NM_000388.4(CASR):c.684G>A (p.Glu228=) rs1173197457
NM_000388.4(CASR):c.686A>C (p.Glu229Ala) rs2074625376
NM_000388.4(CASR):c.688G>A (p.Ala230Thr)
NM_000388.4(CASR):c.689C>T (p.Ala230Val) rs2107632113
NM_000388.4(CASR):c.699G>A (p.Arg233=)
NM_000388.4(CASR):c.703A>G (p.Ile235Val) rs2107632125
NM_000388.4(CASR):c.706T>A (p.Cys236Ser)
NM_000388.4(CASR):c.707G>A (p.Cys236Tyr) rs1057518616
NM_000388.4(CASR):c.707G>T (p.Cys236Phe) rs1057518616
NM_000388.4(CASR):c.70C>T (p.Gln24Ter)
NM_000388.4(CASR):c.711C>T (p.Ile237=)
NM_000388.4(CASR):c.712G>C (p.Asp238His) rs373376842
NM_000388.4(CASR):c.714C>T (p.Asp238=)
NM_000388.4(CASR):c.715T>G (p.Phe239Val)
NM_000388.4(CASR):c.717C>T (p.Phe239=) rs2107632147
NM_000388.4(CASR):c.718A>G (p.Ser240Gly) rs200878437
NM_000388.4(CASR):c.71A>G (p.Gln24Arg)
NM_000388.4(CASR):c.721G>A (p.Glu241Lys) rs2107632158
NM_000388.4(CASR):c.721del (p.Glu241fs)
NM_000388.4(CASR):c.725T>C (p.Leu242Pro) rs1064794676
NM_000388.4(CASR):c.726C>T (p.Leu242=) rs1433483919
NM_000388.4(CASR):c.727A>G (p.Ile243Val)
NM_000388.4(CASR):c.729C>G (p.Ile243Met)
NM_000388.4(CASR):c.729C>T (p.Ile243=) rs2107632173
NM_000388.4(CASR):c.733C>T (p.Gln245Ter) rs1553766768
NM_000388.4(CASR):c.734A>G (p.Gln245Arg)
NM_000388.4(CASR):c.746A>T (p.Glu249Val)
NM_000388.4(CASR):c.747_749del (p.Glu251del)
NM_000388.4(CASR):c.749A>G (p.Glu250Gly) rs1256348744
NM_000388.4(CASR):c.74G>A (p.Arg25Gln) rs568902441
NM_000388.4(CASR):c.74G>T (p.Arg25Leu) rs568902441
NM_000388.4(CASR):c.751G>C (p.Glu251Gln) rs1060502854
NM_000388.4(CASR):c.753G>C (p.Glu251Asp) rs2074626568
NM_000388.4(CASR):c.754A>G (p.Ile252Val) rs2107632219
NM_000388.4(CASR):c.755T>A (p.Ile252Asn)
NM_000388.4(CASR):c.756C>A (p.Ile252=) rs201948422
NM_000388.4(CASR):c.756C>G (p.Ile252Met)
NM_000388.4(CASR):c.75A>C (p.Arg25=) rs199869938
NM_000388.4(CASR):c.765G>A (p.Val255=) rs2107632240
NM_000388.4(CASR):c.766G>A (p.Val256Ile)
NM_000388.4(CASR):c.767T>C (p.Val256Ala) rs2074626876
NM_000388.4(CASR):c.772_773delinsA (p.Val258fs)
NM_000388.4(CASR):c.776T>C (p.Ile259Thr) rs1200068518
NM_000388.4(CASR):c.778C>G (p.Gln260Glu) rs2074627053
NM_000388.4(CASR):c.782A>C (p.Asn261Thr) rs2074627203
NM_000388.4(CASR):c.783T>C (p.Asn261=) rs1576858386
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.789G>A (p.Thr263=) rs369124816
NM_000388.4(CASR):c.78C>A (p.Ala26=)
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000388.4(CASR):c.78C>T (p.Ala26=) rs77852524
NM_000388.4(CASR):c.791C>T (p.Ala264Val)
NM_000388.4(CASR):c.795A>G (p.Lys265=) rs2107632283
NM_000388.4(CASR):c.796G>A (p.Val266Ile) rs2074627422
NM_000388.4(CASR):c.797T>G (p.Val266Gly)
NM_000388.4(CASR):c.801C>A (p.Ile267=) rs148721982
NM_000388.4(CASR):c.801C>T (p.Ile267=) rs148721982
NM_000388.4(CASR):c.802G>A (p.Val268Met) rs2074627507
NM_000388.4(CASR):c.811T>C (p.Ser271Pro)
NM_000388.4(CASR):c.814A>G (p.Ser272Gly)
NM_000388.4(CASR):c.815G>A (p.Ser272Asn) rs1576858432
NM_000388.4(CASR):c.816T>A (p.Ser272Arg) rs2107632311
NM_000388.4(CASR):c.818G>C (p.Gly273Ala) rs2074627937
NM_000388.4(CASR):c.819C>T (p.Gly273=) rs2107632323
NM_000388.4(CASR):c.81A>G (p.Gln27=)
NM_000388.4(CASR):c.820C>G (p.Pro274Ala)
NM_000388.4(CASR):c.820C>T (p.Pro274Ser)
NM_000388.4(CASR):c.821C>T (p.Pro274Leu) rs1005301601
NM_000388.4(CASR):c.826C>A (p.Leu276Ile)
NM_000388.4(CASR):c.831G>A (p.Glu277=) rs2107632344
NM_000388.4(CASR):c.831G>C (p.Glu277Asp)
NM_000388.4(CASR):c.832C>G (p.Pro278Ala)
NM_000388.4(CASR):c.833C>T (p.Pro278Leu)
NM_000388.4(CASR):c.834C>T (p.Pro278=)
NM_000388.4(CASR):c.835C>T (p.Leu279Phe)
NM_000388.4(CASR):c.836T>G (p.Leu279Arg) rs1553766796
NM_000388.4(CASR):c.839T>A (p.Ile280Asn) rs1559959234
NM_000388.4(CASR):c.840C>T (p.Ile280=) rs201366476
NM_000388.4(CASR):c.846G>A (p.Glu282=)
NM_000388.4(CASR):c.849T>C (p.Ile283=) rs1576858514
NM_000388.4(CASR):c.850G>A (p.Val284Ile)
NM_000388.4(CASR):c.853C>T (p.Arg285Trp) rs1553766800
NM_000388.4(CASR):c.855G>A (p.Arg285=) rs1250270901
NM_000388.4(CASR):c.855G>T (p.Arg285=)
NM_000388.4(CASR):c.856C>A (p.Arg286Ser)
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.857G>C (p.Arg286Pro) rs922511747
NM_000388.4(CASR):c.858C>T (p.Arg286=) rs2107632406
NM_000388.4(CASR):c.859A>C (p.Asn287His) rs2107632409
NM_000388.4(CASR):c.860A>G (p.Asn287Ser) rs2074629436
NM_000388.4(CASR):c.862A>G (p.Ile288Val) rs2107632419
NM_000388.4(CASR):c.864C>T (p.Ile288=) rs1553766801
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000388.4(CASR):c.866C>G (p.Thr289Arg) rs755840531
NM_000388.4(CASR):c.867G>T (p.Thr289=)
NM_000388.4(CASR):c.869G>A (p.Gly290Asp)
NM_000388.4(CASR):c.870C>T (p.Gly290=) rs1576858604
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000388.4(CASR):c.878G>A (p.Trp293Ter)
NM_000388.4(CASR):c.87G>A (p.Lys29=) rs868678822
NM_000388.4(CASR):c.883G>A (p.Ala295Thr) rs1289972038
NM_000388.4(CASR):c.884C>G (p.Ala295Gly) rs1559959332
NM_000388.4(CASR):c.884C>T (p.Ala295Val)
NM_000388.4(CASR):c.888C>T (p.Ser296=) rs759988398
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000388.4(CASR):c.889G>C (p.Glu297Gln) rs121909259
NM_000388.4(CASR):c.88G>C (p.Gly30Arg)
NM_000388.4(CASR):c.891G>T (p.Glu297Asp) rs1559959353
NM_000388.4(CASR):c.893C>A (p.Ala298Asp)
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.894C>G (p.Ala298=)
NM_000388.4(CASR):c.89G>A (p.Gly30Glu) rs1553765889
NM_000388.4(CASR):c.900C>G (p.Ala300=) rs2107632507
NM_000388.4(CASR):c.903C>T (p.Ser301=) rs2107632513
NM_000388.4(CASR):c.904T>A (p.Ser302Thr) rs2074630497
NM_000388.4(CASR):c.905C>A (p.Ser302Tyr) rs2107632520
NM_000388.4(CASR):c.905C>G (p.Ser302Cys)
NM_000388.4(CASR):c.906C>A (p.Ser302=)
NM_000388.4(CASR):c.90G>A (p.Gly30=) rs1055397172
NM_000388.4(CASR):c.90G>T (p.Gly30=) rs1055397172
NM_000388.4(CASR):c.910C>T (p.Leu304=)
NM_000388.4(CASR):c.915C>T (p.Ile305=) rs200528343
NM_000388.4(CASR):c.916G>C (p.Ala306Pro)
NM_000388.4(CASR):c.916G>T (p.Ala306Ser) rs2074630775
NM_000388.4(CASR):c.919A>G (p.Met307Val)
NM_000388.4(CASR):c.91G>C (p.Asp31His)
NM_000388.4(CASR):c.920T>C (p.Met307Thr) rs387907397
NM_000388.4(CASR):c.924_925dup (p.Gln309fs) rs2107632553
NM_000388.4(CASR):c.926A>C (p.Gln309Pro) rs1576858741
NM_000388.4(CASR):c.926A>T (p.Gln309Leu) rs1576858741
NM_000388.4(CASR):c.931T>G (p.Phe311Val) rs2107632568
NM_000388.4(CASR):c.936C>G (p.His312Gln) rs1356911586
NM_000388.4(CASR):c.936C>T (p.His312=)
NM_000388.4(CASR):c.938T>A (p.Val313Glu)
NM_000388.4(CASR):c.938T>C (p.Val313Ala)
NM_000388.4(CASR):c.942T>C (p.Val314=) rs2107632581
NM_000388.4(CASR):c.944G>A (p.Gly315Asp) rs1389231880
NM_000388.4(CASR):c.945C>A (p.Gly315=)
NM_000388.4(CASR):c.948C>T (p.Gly316=) rs2107632595
NM_000388.4(CASR):c.94A>G (p.Ile32Val) rs2074529687
NM_000388.4(CASR):c.94A>T (p.Ile32Phe) rs2074529687
NM_000388.4(CASR):c.951C>T (p.Thr317=)
NM_000388.4(CASR):c.952A>G (p.Ile318Val) rs779711318
NM_000388.4(CASR):c.953T>C (p.Ile318Thr) rs2107632605
NM_000388.4(CASR):c.955G>A (p.Gly319Arg)
NM_000388.4(CASR):c.956G>A (p.Gly319Glu) rs2107632608
NM_000388.4(CASR):c.957A>C (p.Gly319=)
NM_000388.4(CASR):c.961G>A (p.Ala321Thr) rs2074631702
NM_000388.4(CASR):c.961G>T (p.Ala321Ser)
NM_000388.4(CASR):c.961_962del (p.Ala321fs) rs2107632620
NM_000388.4(CASR):c.964C>T (p.Leu322=) rs2107632631
NM_000388.4(CASR):c.968A>C (p.Lys323Thr) rs1382062409
NM_000388.4(CASR):c.969G>A (p.Lys323=) rs1559959462
NM_000388.4(CASR):c.970G>C (p.Ala324Pro)
NM_000388.4(CASR):c.971C>A (p.Ala324Asp)
NM_000388.4(CASR):c.971C>G (p.Ala324Gly)
NM_000388.4(CASR):c.973G>C (p.Gly325Arg) rs778100486
NM_000388.4(CASR):c.975G>A (p.Gly325=)
NM_000388.4(CASR):c.977A>T (p.Gln326Leu)
NM_000388.4(CASR):c.978G>A (p.Gln326=) rs916694180
NM_000388.4(CASR):c.97_98del (p.Ile33fs)
NM_000388.4(CASR):c.981C>G (p.Ile327Met) rs1240483254
NM_000388.4(CASR):c.986_994del (p.Gly329_Arg331del) rs2107632671
NM_000388.4(CASR):c.987C>T (p.Gly329=) rs1576858879
NM_000388.4(CASR):c.991C>T (p.Arg331Trp) rs2074632178
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) rs747090029
NM_000388.4(CASR):c.992G>C (p.Arg331Pro) rs747090029
NM_000388.4(CASR):c.992G>T (p.Arg331Leu)
NM_000388.4(CASR):c.994G>A (p.Glu332Lys)
NM_000388.4(CASR):c.994del (p.Glu332fs)
NM_000388.4(CASR):c.995A>G (p.Glu332Gly)
NM_000388.4(CASR):c.99C>T (p.Ile33=) rs387907398
NM_000388.4(CASR):c.9T>G (p.Phe3Leu) rs764556468
NM_000388.4:c.2628_2629insAlu
NM_000388.4:c.2643_2644insAlu
NM_000455.5(STK11):c.749C>T (p.Thr250Met) rs876661238
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp) rs2146299968
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln) rs2146300461
NM_000516.7(GNAS):c.1030_1032dup (p.Glu344dup) rs1569031518
NM_000516.7(GNAS):c.1039-1G>A rs2146304851
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr) rs2146304864
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg) rs2146305127
NM_000516.7(GNAS):c.1067G>A (p.Arg356His) rs2146305299
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr) rs2146305803
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) rs2091380655
NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr) rs2146305978
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.112del (p.Arg38fs) rs2145916486
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) rs1569032751
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu) rs2146306658
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg) rs397514457
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter) rs1254063262
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter) rs397514456
NM_000516.7(GNAS):c.119_139+17del rs2145916749
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser) rs2145916888
NM_000516.7(GNAS):c.124dup (p.Arg42fs) rs2145916852
NM_000516.7(GNAS):c.127C>G (p.Leu43Val) rs2145916985
NM_000516.7(GNAS):c.137T>G (p.Leu46Arg) rs1600976255
NM_000516.7(GNAS):c.139+1G>C rs2089393181
NM_000516.7(GNAS):c.149A>C (p.Glu50Ala)
NM_000516.7(GNAS):c.154G>A (p.Gly52Ser) rs2146005656
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.212+1_212+3del rs2146006354
NM_000516.7(GNAS):c.212+3_212+6del rs2089974938
NM_000516.7(GNAS):c.212+6T>G
NM_000516.7(GNAS):c.217G>A (p.Gly73Ser) rs587778380
NM_000516.7(GNAS):c.226G>C (p.Asp76His)
NM_000516.7(GNAS):c.254dup (p.Asp85fs) rs2146079806
NM_000516.7(GNAS):c.257+197_531-8del
NM_000516.7(GNAS):c.257+970_257+972del
NM_000516.7(GNAS):c.258-6C>G
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter) rs1601115202
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter) rs1601115231
NM_000516.7(GNAS):c.284T>A (p.Ile95Asn)
NM_000516.7(GNAS):c.286A>G (p.Lys96Glu)
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro) rs137854531
NM_000516.7(GNAS):c.296del (p.Leu99fs) rs2090829910
NM_000516.7(GNAS):c.300A>C (p.Lys100Asn) rs1569015549
NM_000516.7(GNAS):c.302_303del (p.Glu101fs) rs2146178462
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr)
NM_000516.7(GNAS):c.313-3C>G
NM_000516.7(GNAS):c.31_38del (p.Asp11fs)
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)
NM_000516.7(GNAS):c.338T>A (p.Leu113Gln)
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.348del (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.364C>G (p.Pro122Ala) rs2146183586
NM_000516.7(GNAS):c.380G>C (p.Arg127Thr)
NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys) rs2146184314
NM_000516.7(GNAS):c.3G>T (p.Met1Ile) rs2145914268
NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del) rs2146184726
NM_000516.7(GNAS):c.415_418del (p.Asp139fs)
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.432+5G>A
NM_000516.7(GNAS):c.432C>T (p.Pro144=) rs11554266
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter)
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.460_461del (p.Trp154fs)
NM_000516.7(GNAS):c.470_472del (p.Glu157del) rs2146209517
NM_000516.7(GNAS):c.476T>C (p.Val159Ala)
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro)
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) rs372290095
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter) rs774895847
NM_000516.7(GNAS):c.530+1G>T rs113029858
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.585+1G>A
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys) rs2146270332
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) rs1267396058
NM_000516.7(GNAS):c.602dup (p.Val202fs) rs2146270735
NM_000516.7(GNAS):c.617_618del (p.Gly206fs) rs2146271310
NM_000516.7(GNAS):c.658del (p.His220fs)
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.692G>A (p.Arg231His) rs137854538
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys) rs2091303526
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG rs2146283488
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg) rs137854534
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) rs1272546759
NM_000516.7(GNAS):c.75G>A (p.Lys25=) rs1326256762
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) rs137854536
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu) rs1555891584
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582
NM_000516.7(GNAS):c.839+1G>C rs1601164378
NM_000516.7(GNAS):c.845T>G (p.Leu282Arg) rs2146289554
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
NM_000516.7(GNAS):c.873CAA[1] (p.Asn292del) rs2091331588
NM_000516.7(GNAS):c.878A>G (p.Lys293Arg)
NM_000516.7(GNAS):c.880C>T (p.Gln294Ter) rs863224876
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu) rs2146292463
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_000516.7(GNAS):c.950G>A (p.Arg317His) rs1369025856
NM_000516.7(GNAS):c.967G>C (p.Asp323His)
NM_000516.7(GNAS):c.985G>A (p.Gly329Arg) rs1394557997
NM_000516.7(GNAS):c.992A>T (p.Asp331Val)
NM_001001433.3(STX16):c.*1156G>C rs1032502684
NM_001001433.3(STX16):c.*1203T>C rs886056856
NM_001001433.3(STX16):c.*1232A>G rs886056857
NM_001001433.3(STX16):c.*1565C>G rs2084170375
NM_001001433.3(STX16):c.*1676T>A rs893623188
NM_001001433.3(STX16):c.*1747G>C rs140662326
NM_001001433.3(STX16):c.*1764C>T rs886056859
NM_001001433.3(STX16):c.*1957T>C rs2084183470
NM_001001433.3(STX16):c.*2312G>A rs886056862
NM_001001433.3(STX16):c.*2377G>T rs559654103
NM_001001433.3(STX16):c.*2555C>G rs2084203495
NM_001001433.3(STX16):c.*2574T>C rs528651545
NM_001001433.3(STX16):c.*2594T>C rs886056867
NM_001001433.3(STX16):c.*2627G>C rs76626612
NM_001001433.3(STX16):c.*270T>C rs886056850
NM_001001433.3(STX16):c.*2962C>T rs192204838
NM_001001433.3(STX16):c.*3053C>T rs769976417
NM_001001433.3(STX16):c.*3092A>C rs2084217748
NM_001001433.3(STX16):c.*436G>C rs886056851
NM_001001433.3(STX16):c.-377G>A rs886056845
NM_001001433.3(STX16):c.-464G>A rs41296203
NM_001001433.3(STX16):c.-465T>G rs886056843
NM_001001433.3(STX16):c.-673C>G rs886056842
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
NM_001001433.3(STX16):c.145-2060_556+343del
NM_001001433.3(STX16):c.393+557_792+364del
NM_001001433.3(STX16):c.484G>T (p.Val162Leu) rs116490884
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524
NM_001001433.3(STX16):c.557G>T (p.Arg186Leu)
NM_001001433.3(STX16):c.781A>C (p.Ile261Leu) rs1031420787
NM_001001433.3(STX16):c.875C>T (p.Ala292Val) rs2084118222
NM_001001433.3(STX16):c.907C>G (p.Leu303Val) rs886056847
NM_001001433.3(STX16):c.912G>C (p.Val304=) rs886056848
NM_001370259.2(MEN1):c.*126C>T rs138595686
NM_001370259.2(MEN1):c.*245C>T rs1941463518
NM_001370259.2(MEN1):c.*300CTC[2] rs143341556
NM_001370259.2(MEN1):c.*341C>G rs892949876
NM_001370259.2(MEN1):c.*373G>C rs886048476
NM_001370259.2(MEN1):c.*392G>A rs886048475
NM_001370259.2(MEN1):c.*527G>T rs886048473
NM_001370259.2(MEN1):c.*529A>G rs886048472
NM_001370259.2(MEN1):c.*533C>T rs879327862
NM_001370259.2(MEN1):c.*557C>A rs886048471
NM_001370259.2(MEN1):c.*560G>T rs886048470
NM_001370259.2(MEN1):c.*570C>A rs886048469
NM_001370259.2(MEN1):c.*5C>G
NM_001370259.2(MEN1):c.-20_-14dup
NM_001370259.2(MEN1):c.-23-28_783+50del
NM_001370259.2(MEN1):c.-2C>T rs653534
NM_001370259.2(MEN1):c.-9C>G
NM_001370259.2(MEN1):c.1000G>A (p.Val334Met) rs1555165027
NM_001370259.2(MEN1):c.1001T>A (p.Val334Glu)
NM_001370259.2(MEN1):c.1003C>G (p.Arg335Gly) rs371364206
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp) rs371364206
NM_001370259.2(MEN1):c.1006dup (p.Glu336fs) rs2136119153
NM_001370259.2(MEN1):c.1007_1009dup (p.Glu336dup) rs1114167529
NM_001370259.2(MEN1):c.1008A>G (p.Glu336=)
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro) rs2071312
NM_001370259.2(MEN1):c.100C>A (p.Leu34Met) rs771554497
NM_001370259.2(MEN1):c.100C>T (p.Leu34=) rs771554497
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp) rs2136118998
NM_001370259.2(MEN1):c.1011C>G (p.Ala337=)
NM_001370259.2(MEN1):c.1013del (p.Leu338fs) rs2136118927
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs) rs386134245
NM_001370259.2(MEN1):c.1017G>A (p.Gln339=)
NM_001370259.2(MEN1):c.1018G>C (p.Ala340Pro) rs2136118718
NM_001370259.2(MEN1):c.1018_1024del (p.Ala340fs) rs1941717148
NM_001370259.2(MEN1):c.1019C>G (p.Ala340Gly) rs2136118671
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter) rs1114167482
NM_001370259.2(MEN1):c.1023G>C (p.Trp341Cys)
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro) rs776561706
NM_001370259.2(MEN1):c.1024del (p.Ala342fs) rs1555164986
NM_001370259.2(MEN1):c.1025_1032del (p.Ala342fs)
NM_001370259.2(MEN1):c.1026G>C (p.Ala342=) rs878855184
NM_001370259.2(MEN1):c.1027G>A (p.Asp343Asn) rs2136118303
NM_001370259.2(MEN1):c.1029C>G (p.Asp343Glu) rs878855185
NM_001370259.2(MEN1):c.102G>A (p.Leu34=) rs1255708093
NM_001370259.2(MEN1):c.102G>C (p.Leu34=) rs1255708093
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg) rs1259681826
NM_001370259.2(MEN1):c.1031C>T (p.Thr344Met) rs1259681826
NM_001370259.2(MEN1):c.1032G>C (p.Thr344=) rs760183888
NM_001370259.2(MEN1):c.1033G>T (p.Ala345Ser)
NM_001370259.2(MEN1):c.1035C>T (p.Ala345=)
NM_001370259.2(MEN1):c.1036A>G (p.Thr346Ala) rs2136117914
NM_001370259.2(MEN1):c.1036A>T (p.Thr346Ser) rs2136117914
NM_001370259.2(MEN1):c.1037C>G (p.Thr346Ser)
NM_001370259.2(MEN1):c.1039G>A (p.Val347Ile)
NM_001370259.2(MEN1):c.103G>C (p.Val35Leu)
NM_001370259.2(MEN1):c.1040T>A (p.Val347Asp) rs1592642971
NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn)
NM_001370259.2(MEN1):c.1044C>G (p.Ile348Met)
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter) rs2136117686
NM_001370259.2(MEN1):c.1045del (p.Gln349fs) rs2136117722
NM_001370259.2(MEN1):c.1049+10C>A
NM_001370259.2(MEN1):c.1049+11C>T
NM_001370259.2(MEN1):c.1049+12C>A
NM_001370259.2(MEN1):c.1049+13C>A
NM_001370259.2(MEN1):c.1049+15A>G
NM_001370259.2(MEN1):c.1049+17T>G
NM_001370259.2(MEN1):c.1049+18A>G
NM_001370259.2(MEN1):c.1049+1G>A rs1114167489
NM_001370259.2(MEN1):c.1049+1G>C rs1114167489
NM_001370259.2(MEN1):c.1049+2T>C rs1555164946
NM_001370259.2(MEN1):c.1049+6G>A
NM_001370259.2(MEN1):c.1049+8T>C rs2136117570
NM_001370259.2(MEN1):c.1049+9C>A rs200517349
NM_001370259.2(MEN1):c.1049+9C>G rs200517349
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
NM_001370259.2(MEN1):c.1050-10G>A
NM_001370259.2(MEN1):c.1050-10G>C
NM_001370259.2(MEN1):c.1050-15C>G
NM_001370259.2(MEN1):c.1050-18A>C
NM_001370259.2(MEN1):c.1050-19G>A
NM_001370259.2(MEN1):c.1050-19G>T
NM_001370259.2(MEN1):c.1050-20A>G rs2136111796
NM_001370259.2(MEN1):c.1050-2A>G rs1565642765
NM_001370259.2(MEN1):c.1050-2A>T rs1565642765
NM_001370259.2(MEN1):c.1050-34_1050-14del
NM_001370259.2(MEN1):c.1050-3C>G
NM_001370259.2(MEN1):c.1050-3C>T rs2136111597
NM_001370259.2(MEN1):c.1050-7C>T rs1000294408
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter) rs767078097
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)
NM_001370259.2(MEN1):c.1056C>T (p.Asn352=) rs1565642741
NM_001370259.2(MEN1):c.1058A>C (p.Tyr353Ser) rs1592640870
NM_001370259.2(MEN1):c.1058_1059insTG (p.Cys354fs) rs2136111335
NM_001370259.2(MEN1):c.1059C>A (p.Tyr353Ter)
NM_001370259.2(MEN1):c.1059C>T (p.Tyr353=) rs1592640846
NM_001370259.2(MEN1):c.105G>A (p.Val35=)
NM_001370259.2(MEN1):c.105dup (p.Leu36fs) rs1555166711
NM_001370259.2(MEN1):c.1061G>A (p.Cys354Tyr) rs904261642
NM_001370259.2(MEN1):c.1061G>T (p.Cys354Phe) rs904261642
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter) rs104894265
NM_001370259.2(MEN1):c.1062C>T (p.Cys354=) rs104894265
NM_001370259.2(MEN1):c.1063C>A (p.Arg355=) rs863224807
NM_001370259.2(MEN1):c.1063C>G (p.Arg355Gly) rs863224807
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp) rs863224807
NM_001370259.2(MEN1):c.1063del (p.Arg355fs) rs386134246
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln) rs1114167474
NM_001370259.2(MEN1):c.1065G>C (p.Arg355=) rs1592640719
NM_001370259.2(MEN1):c.1065G>T (p.Arg355=) rs1592640719
NM_001370259.2(MEN1):c.1069G>A (p.Asp357Asn) rs768448073
NM_001370259.2(MEN1):c.1072G>A (p.Glu358Lys) rs1941674204
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del) rs1060499971
NM_001370259.2(MEN1):c.1076A>C (p.Glu359Ala)
NM_001370259.2(MEN1):c.1077G>T (p.Glu359Asp)
NM_001370259.2(MEN1):c.1083C>T (p.Tyr361=) rs1168237114
NM_001370259.2(MEN1):c.1084A>G (p.Lys362Glu) rs1941672276
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) rs869025185
NM_001370259.2(MEN1):c.1088A>G (p.Glu363Gly)
NM_001370259.2(MEN1):c.1089G>A (p.Glu363=) rs2136110455
NM_001370259.2(MEN1):c.1089G>C (p.Glu363Asp)
NM_001370259.2(MEN1):c.108C>G (p.Leu36=) rs1592660352
NM_001370259.2(MEN1):c.108C>T (p.Leu36=)
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del) rs1555166695
NM_001370259.2(MEN1):c.108_122dup (p.Leu37_Leu41dup) rs1555166695
NM_001370259.2(MEN1):c.1092C>A (p.Phe364Leu) rs863224808
NM_001370259.2(MEN1):c.1093T>C (p.Phe365Leu) rs1592640479
NM_001370259.2(MEN1):c.1095T>C (p.Phe365=) rs1592640464
NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter)
NM_001370259.2(MEN1):c.1098A>G (p.Glu366=)
NM_001370259.2(MEN1):c.1100T>C (p.Val367Ala) rs2136110269
NM_001370259.2(MEN1):c.1102del (p.Ala368fs) rs2136110242
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp) rs1555164707
NM_001370259.2(MEN1):c.1104C>A (p.Ala368=)
NM_001370259.2(MEN1):c.1106A>G (p.Asn369Ser) rs1368034727
NM_001370259.2(MEN1):c.1111G>A (p.Val371Ile) rs1941669758
NM_001370259.2(MEN1):c.1113C>A (p.Val371=)
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr) rs794728627
NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala) rs794728627
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser) rs794728627
NM_001370259.2(MEN1):c.1119C>A (p.Pro373=) rs535417698
NM_001370259.2(MEN1):c.1119C>T (p.Pro373=) rs535417698
NM_001370259.2(MEN1):c.1119del (p.Asn374fs)
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
NM_001370259.2(MEN1):c.1121A>G (p.Asn374Ser) rs755168633
NM_001370259.2(MEN1):c.1123C>A (p.Leu375Met)
NM_001370259.2(MEN1):c.1123C>G (p.Leu375Val) rs1211957325
NM_001370259.2(MEN1):c.1124T>A (p.Leu375Gln) rs1941668371
NM_001370259.2(MEN1):c.1125G>A (p.Leu375=) rs867481093
NM_001370259.2(MEN1):c.1125G>C (p.Leu375=) rs867481093
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)
NM_001370259.2(MEN1):c.1130A>G (p.Lys377Arg) rs766075737
NM_001370259.2(MEN1):c.1131G>A (p.Lys377=) rs1555164674
NM_001370259.2(MEN1):c.1134G>A (p.Glu378=)
NM_001370259.2(MEN1):c.1135G>A (p.Ala379Thr) rs2136109409
NM_001370259.2(MEN1):c.1136dup (p.Ala380fs) rs1592640181
NM_001370259.2(MEN1):c.1137A>C (p.Ala379=) rs2136109300
NM_001370259.2(MEN1):c.1139C>G (p.Ala380Gly) rs1565642307
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_001370259.2(MEN1):c.1140C>T (p.Ala380=)
NM_001370259.2(MEN1):c.1144T>C (p.Leu382=) rs2136109118
NM_001370259.2(MEN1):c.1147C>T (p.Leu383=) rs2136109092
NM_001370259.2(MEN1):c.1149G>A (p.Leu383=) rs1555164667
NM_001370259.2(MEN1):c.1150G>T (p.Glu384Ter)
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1155G>T (p.Ala385=) rs201091135
NM_001370259.2(MEN1):c.1156G>A (p.Gly386Ser) rs767595183
NM_001370259.2(MEN1):c.1157G>C (p.Gly386Ala) rs761360623
NM_001370259.2(MEN1):c.1158C>A (p.Gly386=) rs794728653
NM_001370259.2(MEN1):c.1158C>G (p.Gly386=) rs794728653
NM_001370259.2(MEN1):c.1158C>T (p.Gly386=) rs794728653
NM_001370259.2(MEN1):c.1163A>G (p.Glu388Gly)
NM_001370259.2(MEN1):c.1165C>A (p.Arg389=)
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln) rs775267651
NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro) rs775267651
NM_001370259.2(MEN1):c.1167G>C (p.Arg389=) rs1194388602
NM_001370259.2(MEN1):c.1169C>A (p.Pro390Gln) rs761102084
NM_001370259.2(MEN1):c.1169C>G (p.Pro390Arg) rs761102084
NM_001370259.2(MEN1):c.116T>A (p.Leu39Ter)
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=) rs587780841
NM_001370259.2(MEN1):c.1170G>T (p.Pro390=) rs587780841
NM_001370259.2(MEN1):c.1171G>A (p.Gly391Arg)
NM_001370259.2(MEN1):c.1172G>A (p.Gly391Glu) rs998827212
NM_001370259.2(MEN1):c.1173G>A (p.Gly391=) rs1592639850
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter) rs772588551
NM_001370259.2(MEN1):c.1174del (p.Glu392fs) rs386134247
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs) rs386134247
NM_001370259.2(MEN1):c.1177C>G (p.Gln393Glu) rs1060499984
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter) rs1060499984
NM_001370259.2(MEN1):c.117G>A (p.Leu39=) rs2136193601
NM_001370259.2(MEN1):c.117_118del (p.Leu39fs) rs2136193574
NM_001370259.2(MEN1):c.1182C>T (p.Ser394=) rs1396452284
NM_001370259.2(MEN1):c.1185+10dup rs2136107816
NM_001370259.2(MEN1):c.1185+12G>C rs373609932
NM_001370259.2(MEN1):c.1185+13A>G
NM_001370259.2(MEN1):c.1185+15C>G rs2136107680
NM_001370259.2(MEN1):c.1185+18C>A rs780329058
NM_001370259.2(MEN1):c.1185+18C>T rs780329058
NM_001370259.2(MEN1):c.1185+1G>A rs1941661315
NM_001370259.2(MEN1):c.1185+3G>A rs1199137996
NM_001370259.2(MEN1):c.1185+6A>G rs2136107870
NM_001370259.2(MEN1):c.1185+7G>A
NM_001370259.2(MEN1):c.1185+8G>T
NM_001370259.2(MEN1):c.1186-10C>T rs762303621
NM_001370259.2(MEN1):c.1186-13C>T rs1181170442
NM_001370259.2(MEN1):c.1186-14T>C
NM_001370259.2(MEN1):c.1186-15T>A rs1482248002
NM_001370259.2(MEN1):c.1186-16C>T
NM_001370259.2(MEN1):c.1186-5T>C rs1941629779
NM_001370259.2(MEN1):c.1186-7C>G rs587780842
NM_001370259.2(MEN1):c.1186-8del rs1555164452
NM_001370259.2(MEN1):c.1186-9C>T rs1555164455
NM_001370259.2(MEN1):c.1190C>T (p.Thr397Ile) rs1941628720
NM_001370259.2(MEN1):c.1191C>A (p.Thr397=)
NM_001370259.2(MEN1):c.1191C>T (p.Thr397=) rs1166154585
NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu) rs886039418
NM_001370259.2(MEN1):c.1193dup (p.Ser399fs) rs1555164430
NM_001370259.2(MEN1):c.1194G>C (p.Gln398His) rs1592637824
NM_001370259.2(MEN1):c.1195A>G (p.Ser399Gly) rs1941626700
NM_001370259.2(MEN1):c.1196G>A (p.Ser399Asn)
NM_001370259.2(MEN1):c.1196G>C (p.Ser399Thr)
NM_001370259.2(MEN1):c.1198C>A (p.Gln400Lys) rs886039419
NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter) rs886039419
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del) rs386134248
NM_001370259.2(MEN1):c.11A>C (p.Lys4Thr) rs1592661250
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val) rs878855186
NM_001370259.2(MEN1):c.1202del (p.Gly401fs) rs1941625647
NM_001370259.2(MEN1):c.1203T>C (p.Gly401=) rs878855187
NM_001370259.2(MEN1):c.1205C>A (p.Ser402Tyr)
NM_001370259.2(MEN1):c.1205C>T (p.Ser402Phe)
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=) rs770037856
NM_001370259.2(MEN1):c.1206del (p.Ala403fs) rs1941624571
NM_001370259.2(MEN1):c.120G>T (p.Val40=) rs1306316325
NM_001370259.2(MEN1):c.1210C>T (p.Leu404Phe) rs1060499989
NM_001370259.2(MEN1):c.1211T>A (p.Leu404His) rs1941623255
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=) rs577268289
NM_001370259.2(MEN1):c.1212C>T (p.Leu404=)
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter) rs864622615
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs) rs1114167513
NM_001370259.2(MEN1):c.1216G>A (p.Asp406Asn)
NM_001370259.2(MEN1):c.1216G>C (p.Asp406His)
NM_001370259.2(MEN1):c.1218C>G (p.Asp406Glu)
NM_001370259.2(MEN1):c.1219C>A (p.Pro407Thr)
NM_001370259.2(MEN1):c.1219C>G (p.Pro407Ala) rs1060499985
NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer) rs1592637455
NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs) rs1592637440
NM_001370259.2(MEN1):c.1221dup (p.Glu408Ter) rs2136102861
NM_001370259.2(MEN1):c.1222G>C (p.Glu408Gln) rs1941620661
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs) rs1114167524
NM_001370259.2(MEN1):c.1227C>A (p.Cys409Ter)
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
NM_001370259.2(MEN1):c.1231G>T (p.Ala411Ser) rs757179911
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
NM_001370259.2(MEN1):c.1233C>T (p.Ala411=)
NM_001370259.2(MEN1):c.1234C>T (p.His412Tyr)
NM_001370259.2(MEN1):c.1234del (p.His412fs)
NM_001370259.2(MEN1):c.1244G>A (p.Arg415Gln) rs1446518998
NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro) rs1446518998
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs) rs1114167542
NM_001370259.2(MEN1):c.1248C>T (p.Phe416=)
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser) rs1942013583
NM_001370259.2(MEN1):c.1251C>T (p.Tyr417=) rs751481164
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) rs104894264
NM_001370259.2(MEN1):c.1252_1254delinsAAT (p.Asp418Asn)
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs) rs1592637081
NM_001370259.2(MEN1):c.1254C>G (p.Asp418Glu) rs2071313
NM_001370259.2(MEN1):c.1255G>A (p.Gly419Ser)
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val) rs1941615895
NM_001370259.2(MEN1):c.1257C>G (p.Gly419=)
NM_001370259.2(MEN1):c.1257C>T (p.Gly419=)
NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala) rs1565652689
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1264A>T (p.Lys422Ter)
NM_001370259.2(MEN1):c.1266del (p.Lys422fs) rs2136101566
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg) rs1555164270
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)
NM_001370259.2(MEN1):c.126C>T (p.Gly42=) rs2136193097
NM_001370259.2(MEN1):c.1270G>A (p.Glu424Lys) rs1114167477
NM_001370259.2(MEN1):c.1270dup (p.Glu424fs)
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del) rs2136101303
NM_001370259.2(MEN1):c.1277_1350+28del rs1941598294
NM_001370259.2(MEN1):c.1278C>T (p.Gly426=)
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg) rs1555164245
NM_001370259.2(MEN1):c.1279_1282dup (p.Pro428fs) rs2136101131
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg) rs1114167528
NM_001370259.2(MEN1):c.1282C>G (p.Pro428Ala)
NM_001370259.2(MEN1):c.1282C>T (p.Pro428Ser)
NM_001370259.2(MEN1):c.1286C>T (p.Thr429Met) rs757803925
NM_001370259.2(MEN1):c.1287G>C (p.Thr429=)
NM_001370259.2(MEN1):c.1287G>T (p.Thr429=) rs376598079
NM_001370259.2(MEN1):c.1289C>A (p.Pro430His)
NM_001370259.2(MEN1):c.1290T>G (p.Pro430=)
NM_001370259.2(MEN1):c.1293G>A (p.Val431=)
NM_001370259.2(MEN1):c.1294_1302del (p.Leu432_Val434del) rs1555164218
NM_001370259.2(MEN1):c.1297C>T (p.His433Tyr) rs1941611706
NM_001370259.2(MEN1):c.1298_1299delinsGC (p.His433Arg)
NM_001370259.2(MEN1):c.129C>G (p.Phe43Leu) rs1592660139
NM_001370259.2(MEN1):c.129C>T (p.Phe43=)
NM_001370259.2(MEN1):c.1300G>A (p.Val434Met) rs767854775
NM_001370259.2(MEN1):c.1305_1306del (p.Trp436fs)
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter) rs104894260
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_001370259.2(MEN1):c.130G>A (p.Val44Met)
NM_001370259.2(MEN1):c.1310C>T (p.Ala437Val) rs1555164188
NM_001370259.2(MEN1):c.1311C>T (p.Ala437=)
NM_001370259.2(MEN1):c.1311del (p.Thr438fs) rs1555164184
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs) rs1555164184
NM_001370259.2(MEN1):c.1312A>G (p.Thr438Ala)
NM_001370259.2(MEN1):c.1313C>G (p.Thr438Ser)
NM_001370259.2(MEN1):c.1314C>G (p.Thr438=) rs897481809
NM_001370259.2(MEN1):c.1314C>T (p.Thr438=) rs897481809
NM_001370259.2(MEN1):c.1317_1320del (p.Phe439fs) rs1941607846
NM_001370259.2(MEN1):c.1321G>A (p.Val441Met)
NM_001370259.2(MEN1):c.1323G>A (p.Val441=) rs1941607604
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter) rs794728654
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr) rs1060499981
NM_001370259.2(MEN1):c.1329C>T (p.Ser443=) rs2136100094
NM_001370259.2(MEN1):c.132G>T (p.Val44=) rs1555166691
NM_001370259.2(MEN1):c.1330C>G (p.Leu444Val) rs2136100021
NM_001370259.2(MEN1):c.1332A>G (p.Leu444=)
NM_001370259.2(MEN1):c.1333G>A (p.Gly445Ser)
NM_001370259.2(MEN1):c.1333G>T (p.Gly445Cys) rs1555164153
NM_001370259.2(MEN1):c.1334del (p.Gly445fs) rs1565640081
NM_001370259.2(MEN1):c.1336C>A (p.Arg446Ser) rs1592636375
NM_001370259.2(MEN1):c.1336C>T (p.Arg446Cys) rs1592636375
NM_001370259.2(MEN1):c.1337G>A (p.Arg446His) rs1555164143
NM_001370259.2(MEN1):c.1337dup (p.Phe447_Glu448insTer)
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln)
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser) rs1941604532
NM_001370259.2(MEN1):c.1341T>C (p.Phe447=) rs1325598637
NM_001370259.2(MEN1):c.1341T>G (p.Phe447Leu) rs1325598637
NM_001370259.2(MEN1):c.1344G>A (p.Glu448=) rs371339952
NM_001370259.2(MEN1):c.1344G>C (p.Glu448Asp) rs371339952
NM_001370259.2(MEN1):c.1344G>T (p.Glu448Asp)
NM_001370259.2(MEN1):c.1345_1346insTGTC (p.Gly449fs)
NM_001370259.2(MEN1):c.1346del (p.Gly449fs) rs1941603016
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly) rs1592660101
NM_001370259.2(MEN1):c.134A>T (p.Glu45Val)
NM_001370259.2(MEN1):c.1350+16A>C
NM_001370259.2(MEN1):c.1350+18A>G rs1190733461
NM_001370259.2(MEN1):c.1350+1G>A rs863223311
NM_001370259.2(MEN1):c.1350+1G>C rs863223311
NM_001370259.2(MEN1):c.1350+1_1350+11del rs764570645
NM_001370259.2(MEN1):c.1350+2T>C rs1555164115
NM_001370259.2(MEN1):c.1350+2T>G
NM_001370259.2(MEN1):c.1350+3G>A
NM_001370259.2(MEN1):c.1350+3_1350+22del
NM_001370259.2(MEN1):c.1350+4_1350+6del rs1565639798
NM_001370259.2(MEN1):c.1350+5G>A rs1565639811
NM_001370259.2(MEN1):c.1350+5G>T rs1565639811
NM_001370259.2(MEN1):c.1350+7G>A rs2136099113
NM_001370259.2(MEN1):c.1350G>A (p.Gln450=) rs1592636161
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.1351-10A>G rs757569943
NM_001370259.2(MEN1):c.1351-10del
NM_001370259.2(MEN1):c.1351-11C>G
NM_001370259.2(MEN1):c.1351-12C>T rs2136094913
NM_001370259.2(MEN1):c.1351-13C>T rs2136094943
NM_001370259.2(MEN1):c.1351-15T>G rs2136095005
NM_001370259.2(MEN1):c.1351-16C>T rs766052368
NM_001370259.2(MEN1):c.1351-18C>G
NM_001370259.2(MEN1):c.1351-1G>A rs794728629
NM_001370259.2(MEN1):c.1351-1G>C rs794728629
NM_001370259.2(MEN1):c.1351-1G>T rs794728629
NM_001370259.2(MEN1):c.1351-24_1351-14del rs753219137
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_001370259.2(MEN1):c.1351-2A>G rs1060499986
NM_001370259.2(MEN1):c.1351-2_*132del rs1565634591
NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3] rs753219137
NM_001370259.2(MEN1):c.1351-3_1359del rs2136094253
NM_001370259.2(MEN1):c.1351-4_1352del
NM_001370259.2(MEN1):c.1351-6G>A rs1555164004
NM_001370259.2(MEN1):c.1351-7G>A rs1941572921
NM_001370259.2(MEN1):c.1351-8T>C rs751932519
NM_001370259.2(MEN1):c.1351-8T>G rs751932519
NM_001370259.2(MEN1):c.1351-9C>G rs1592634740
NM_001370259.2(MEN1):c.1353G>A (p.Val451=)
NM_001370259.2(MEN1):c.1354C>A (p.Arg452=)
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro) rs775922507
NM_001370259.2(MEN1):c.1356G>A (p.Arg452=) rs1180957953
NM_001370259.2(MEN1):c.1356dup (p.Gln453fs) rs2136094331
NM_001370259.2(MEN1):c.1359G>A (p.Gln453=)
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.1361A>C (p.Lys454Thr)
NM_001370259.2(MEN1):c.1363G>A (p.Val455Met) rs1941570102
NM_001370259.2(MEN1):c.1363dup (p.Val455fs)
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu) rs878855189
NM_001370259.2(MEN1):c.1365G>A (p.Val455=)
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His) rs372468697
NM_001370259.2(MEN1):c.1369A>C (p.Ile457Leu)
NM_001370259.2(MEN1):c.1369A>G (p.Ile457Val)
NM_001370259.2(MEN1):c.1369A>T (p.Ile457Leu) rs1021589871
NM_001370259.2(MEN1):c.1370T>G (p.Ile457Arg) rs1277747983
NM_001370259.2(MEN1):c.1373T>C (p.Val458Ala)
NM_001370259.2(MEN1):c.1374G>A (p.Val458=) rs771297499
NM_001370259.2(MEN1):c.1374G>C (p.Val458=) rs771297499
NM_001370259.2(MEN1):c.1375A>T (p.Ser459Cys)
NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs) rs1555163883
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs) rs2136092832
NM_001370259.2(MEN1):c.1377C>T (p.Ser459=) rs2136093597
NM_001370259.2(MEN1):c.1378C>A (p.Arg460=) rs104894267
NM_001370259.2(MEN1):c.1378C>G (p.Arg460Gly)
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro) rs200035619
NM_001370259.2(MEN1):c.137A>C (p.His46Pro) rs2136192730
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)
NM_001370259.2(MEN1):c.1380A>G (p.Arg460=) rs2136093385
NM_001370259.2(MEN1):c.1381G>C (p.Glu461Gln) rs1941566282
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs) rs1114167531
NM_001370259.2(MEN1):c.1382_1390dup (p.Glu463_Ala464insGluAlaGlu)
NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs) rs1555163780
NM_001370259.2(MEN1):c.1383GGCCGAGGC[1] (p.462AEA[1]) rs772978541
NM_001370259.2(MEN1):c.1383GGCCGAGGC[3] (p.462AEA[3]) rs772978541
NM_001370259.2(MEN1):c.1384G>C (p.Ala462Pro) rs1941565557
NM_001370259.2(MEN1):c.1386C>G (p.Ala462=) rs771827808
NM_001370259.2(MEN1):c.1386C>T (p.Ala462=) rs771827808
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys) rs748102589
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
NM_001370259.2(MEN1):c.1388A>C (p.Glu463Ala)
NM_001370259.2(MEN1):c.1389G>C (p.Glu463Asp) rs1555163863
NM_001370259.2(MEN1):c.1390G>A (p.Ala464Thr) rs2136092866
NM_001370259.2(MEN1):c.1390G>C (p.Ala464Pro) rs2136092866
NM_001370259.2(MEN1):c.1391C>A (p.Ala464Glu)
NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)
NM_001370259.2(MEN1):c.1391_1396dup (p.Ala464_Ala465dup) rs1555163821
NM_001370259.2(MEN1):c.1391_1405del (p.Ala464_Glu468del) rs1592633626
NM_001370259.2(MEN1):c.1391_1405dup (p.Ala464_Glu468dup) rs1592633626
NM_001370259.2(MEN1):c.1391dup (p.Ala465fs) rs2136092746
NM_001370259.2(MEN1):c.1392G>C (p.Ala464=) rs754445482
NM_001370259.2(MEN1):c.1393_1396del (p.Ala465fs)
NM_001370259.2(MEN1):c.1393_1407del (p.Ala465_Glu469del) rs1064792907
NM_001370259.2(MEN1):c.1393del (p.Ala465fs) rs2136092552
NM_001370259.2(MEN1):c.1394_1402dup (p.462AEA[3]) rs1592633710
NM_001370259.2(MEN1):c.1395C>G (p.Ala465=) rs748820252
NM_001370259.2(MEN1):c.1396G>A (p.Glu466Lys) rs1114167497
NM_001370259.2(MEN1):c.1396G>C (p.Glu466Gln)
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
NM_001370259.2(MEN1):c.1398G>A (p.Glu466=) rs990566024
NM_001370259.2(MEN1):c.1398G>T (p.Glu466Asp) rs990566024
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)
NM_001370259.2(MEN1):c.139_143dup (p.Ala49fs)
NM_001370259.2(MEN1):c.1400C>T (p.Ala467Val)
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs) rs1592633463
NM_001370259.2(MEN1):c.1402G>A (p.Glu468Lys) rs1471493357
NM_001370259.2(MEN1):c.1403A>G (p.Glu468Gly) rs2136091899
NM_001370259.2(MEN1):c.1405G>A (p.Glu469Lys)
NM_001370259.2(MEN1):c.1405G>C (p.Glu469Gln) rs1182898331
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala) rs1565638407
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs) rs1114167536
NM_001370259.2(MEN1):c.1407_1421del (p.Pro470_Glu474del) rs1033303123
NM_001370259.2(MEN1):c.1408C>G (p.Pro470Ala) rs1941557896
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=) rs1060503795
NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter) rs1060499991
NM_001370259.2(MEN1):c.1412G>C (p.Trp471Ser) rs1060499991
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter) rs1941556077
NM_001370259.2(MEN1):c.1413G>T (p.Trp471Cys) rs1941556077
NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg) rs1941555781
NM_001370259.2(MEN1):c.1415G>T (p.Gly472Val)
NM_001370259.2(MEN1):c.1415del (p.Gly472fs)
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
NM_001370259.2(MEN1):c.1419G>A (p.Glu473=) rs2136091112
NM_001370259.2(MEN1):c.1420del (p.Glu474fs) rs1592633378
NM_001370259.2(MEN1):c.1421A>G (p.Glu474Gly) rs2136090940
NM_001370259.2(MEN1):c.1424C>G (p.Ala475Gly)
NM_001370259.2(MEN1):c.1424_1432del (p.Ala475_Glu477del) rs1290740194
NM_001370259.2(MEN1):c.1426C>T (p.Arg476Trp) rs1941554063
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln) rs753185026
NM_001370259.2(MEN1):c.1428G>A (p.Arg476=) rs1555163730
NM_001370259.2(MEN1):c.1428G>C (p.Arg476=) rs1555163730
NM_001370259.2(MEN1):c.1429G>C (p.Glu477Gln) rs863224526
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) rs863224526
NM_001370259.2(MEN1):c.142C>T (p.Leu48=) rs2136192593
NM_001370259.2(MEN1):c.142del (p.Leu48fs) rs1555166681
NM_001370259.2(MEN1):c.1431A>T (p.Glu477Asp) rs863224811
NM_001370259.2(MEN1):c.1432G>A (p.Gly478Ser) rs1941551993
NM_001370259.2(MEN1):c.1434C>G (p.Gly478=) rs200280309
NM_001370259.2(MEN1):c.1435C>T (p.Arg479Trp) rs1941551498
NM_001370259.2(MEN1):c.1435_1441del (p.Arg479fs) rs2136089949
NM_001370259.2(MEN1):c.1436G>C (p.Arg479Pro) rs1555163716
NM_001370259.2(MEN1):c.1437G>A (p.Arg479=) rs1354865958
NM_001370259.2(MEN1):c.1437del (p.Arg480fs) rs1941550964
NM_001370259.2(MEN1):c.1438C>T (p.Arg480Trp) rs1301120298
NM_001370259.2(MEN1):c.1439G>A (p.Arg480Gln) rs1450318836
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro) rs1592660057
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
NM_001370259.2(MEN1):c.1443G>A (p.Arg481=) rs864622641
NM_001370259.2(MEN1):c.1444G>A (p.Gly482Ser) rs2136089783
NM_001370259.2(MEN1):c.1445G>A (p.Gly482Asp)
NM_001370259.2(MEN1):c.1448C>T (p.Pro483Leu) rs1941548759
NM_001370259.2(MEN1):c.144G>A (p.Leu48=)
NM_001370259.2(MEN1):c.144G>T (p.Leu48=)
NM_001370259.2(MEN1):c.1450C>G (p.Arg484Gly)
NM_001370259.2(MEN1):c.1450C>T (p.Arg484Trp) rs1941548479
NM_001370259.2(MEN1):c.1451G>A (p.Arg484Gln)
NM_001370259.2(MEN1):c.1453C>A (p.Arg485=) rs1254459338
NM_001370259.2(MEN1):c.1453C>T (p.Arg485Trp) rs1254459338
NM_001370259.2(MEN1):c.1454G>A (p.Arg485Gln) rs2136089297
NM_001370259.2(MEN1):c.1456G>A (p.Glu486Lys)
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter) rs2136089217
NM_001370259.2(MEN1):c.1458G>C (p.Glu486Asp) rs1413990417
NM_001370259.2(MEN1):c.1459T>C (p.Ser487Pro) rs1057427859
NM_001370259.2(MEN1):c.145G>A (p.Ala49Thr) rs1942011819
NM_001370259.2(MEN1):c.145G>T (p.Ala49Ser)
NM_001370259.2(MEN1):c.1460C>T (p.Ser487Phe) rs1941546652
NM_001370259.2(MEN1):c.1462A>C (p.Lys488Gln) rs1941546101
NM_001370259.2(MEN1):c.1463A>G (p.Lys488Arg) rs1941545858
NM_001370259.2(MEN1):c.1464G>A (p.Lys488=)
NM_001370259.2(MEN1):c.1465C>A (p.Pro489Thr) rs587778440
NM_001370259.2(MEN1):c.1466C>T (p.Pro489Leu)
NM_001370259.2(MEN1):c.1467A>G (p.Pro489=) rs1592632826
NM_001370259.2(MEN1):c.146C>T (p.Ala49Val) rs1555166674
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
NM_001370259.2(MEN1):c.1473G>A (p.Glu491=) rs1555163642
NM_001370259.2(MEN1):c.1473G>T (p.Glu491Asp)
NM_001370259.2(MEN1):c.1473del (p.Glu491fs) rs1555163646
NM_001370259.2(MEN1):c.1474C>T (p.Pro492Ser)
NM_001370259.2(MEN1):c.1475C>T (p.Pro492Leu) rs1025851127
NM_001370259.2(MEN1):c.1476C>G (p.Pro492=) rs2136088299
NM_001370259.2(MEN1):c.1476C>T (p.Pro492=) rs2136088299
NM_001370259.2(MEN1):c.1477C>T (p.Pro493Ser) rs1941543089
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
NM_001370259.2(MEN1):c.1479G>T (p.Pro493=) rs546721780
NM_001370259.2(MEN1):c.1483C>T (p.Pro495Ser)
NM_001370259.2(MEN1):c.1485C>T (p.Pro495=) rs2136087952
NM_001370259.2(MEN1):c.1487A>G (p.Lys496Arg) rs1270463727
NM_001370259.2(MEN1):c.148G>A (p.Val50Ile) rs1942011354
NM_001370259.2(MEN1):c.148G>C (p.Val50Leu) rs1942011354
NM_001370259.2(MEN1):c.1490A>G (p.Lys497Arg) rs1941540571
NM_001370259.2(MEN1):c.1491G>A (p.Lys497=) rs2136087753
NM_001370259.2(MEN1):c.1494A>T (p.Pro498=) rs1037335560
NM_001370259.2(MEN1):c.1495G>A (p.Ala499Thr) rs761517398
NM_001370259.2(MEN1):c.1498C>T (p.Leu500=) rs2136087489
NM_001370259.2(MEN1):c.1499T>G (p.Leu500Arg) rs1941538934
NM_001370259.2(MEN1):c.14C>G (p.Ala5Gly) rs2136196896
NM_001370259.2(MEN1):c.14C>T (p.Ala5Val)
NM_001370259.2(MEN1):c.1500G>A (p.Leu500=)
NM_001370259.2(MEN1):c.1500G>T (p.Leu500=)
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)
NM_001370259.2(MEN1):c.1502_1513del (p.Asp501_Leu504del)
NM_001370259.2(MEN1):c.1503C>G (p.Asp501Glu) rs2136087305
NM_001370259.2(MEN1):c.1503C>T (p.Asp501=) rs2136087305
NM_001370259.2(MEN1):c.1505dup (p.Leu504fs) rs1555163591
NM_001370259.2(MEN1):c.1507G>T (p.Gly503Cys) rs2136087052
NM_001370259.2(MEN1):c.1509C>T (p.Gly503=)
NM_001370259.2(MEN1):c.150C>T (p.Val50=) rs2136192168
NM_001370259.2(MEN1):c.1510C>G (p.Leu504Val) rs1390530663
NM_001370259.2(MEN1):c.1514G>A (p.Gly505Asp) rs1320934898
NM_001370259.2(MEN1):c.1514G>T (p.Gly505Val) rs1320934898
NM_001370259.2(MEN1):c.1515C>A (p.Gly505=)
NM_001370259.2(MEN1):c.1515C>T (p.Gly505=) rs2136086851
NM_001370259.2(MEN1):c.1517C>T (p.Thr506Ile) rs1347992299
NM_001370259.2(MEN1):c.1518C>A (p.Thr506=) rs749265222
NM_001370259.2(MEN1):c.1519G>A (p.Gly507Ser) rs1423874145
NM_001370259.2(MEN1):c.1519G>T (p.Gly507Cys) rs1423874145
NM_001370259.2(MEN1):c.1521C>A (p.Gly507=) rs1407833502
NM_001370259.2(MEN1):c.1521C>T (p.Gly507=)
NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter) rs386833403
NM_001370259.2(MEN1):c.1525G>A (p.Gly509Ser) rs1941533809
NM_001370259.2(MEN1):c.1525G>T (p.Gly509Cys)
NM_001370259.2(MEN1):c.1526G>A (p.Gly509Asp) rs769355346
NM_001370259.2(MEN1):c.1526G>C (p.Gly509Ala)
NM_001370259.2(MEN1):c.1526G>T (p.Gly509Val) rs769355346
NM_001370259.2(MEN1):c.1529C>T (p.Ala510Val) rs1356056436
NM_001370259.2(MEN1):c.152A>G (p.Asn51Ser) rs1942010838
NM_001370259.2(MEN1):c.152del (p.Asn51fs) rs869312167
NM_001370259.2(MEN1):c.152dup (p.Asn51fs) rs869312167
NM_001370259.2(MEN1):c.1530A>C (p.Ala510=) rs1941532417
NM_001370259.2(MEN1):c.1532T>C (p.Val511Ala)
NM_001370259.2(MEN1):c.1532_1541del (p.Val511fs) rs1941529928
NM_001370259.2(MEN1):c.1532dup (p.Ser512fs) rs1941531859
NM_001370259.2(MEN1):c.1533G>A (p.Val511=)
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs) rs794728659
NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter) rs141679530
NM_001370259.2(MEN1):c.1536A>C (p.Ser512=)
NM_001370259.2(MEN1):c.1536A>G (p.Ser512=) rs2136085950
NM_001370259.2(MEN1):c.1537G>C (p.Gly513Arg)
NM_001370259.2(MEN1):c.1539del (p.Arg516fs) rs1592631908
NM_001370259.2(MEN1):c.153C>G (p.Asn51Lys)
NM_001370259.2(MEN1):c.153C>T (p.Asn51=) rs1555166669
NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr) rs150202288
NM_001370259.2(MEN1):c.1540C>T (p.Pro514Ser) rs150202288
NM_001370259.2(MEN1):c.1541C>A (p.Pro514His) rs753022747
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg) rs753022747
NM_001370259.2(MEN1):c.1541C>T (p.Pro514Leu) rs753022747
NM_001370259.2(MEN1):c.1542C>G (p.Pro514=) rs1592631827
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser) rs779466487
NM_001370259.2(MEN1):c.1544C>G (p.Pro515Arg) rs1941528728
NM_001370259.2(MEN1):c.1545C>A (p.Pro515=) rs1555163491
NM_001370259.2(MEN1):c.1546C>T (p.Arg516Trp) rs763160290
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1547G>A (p.Arg516Gln) rs1565637104
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter) rs794728630
NM_001370259.2(MEN1):c.154C>A (p.Arg52Ser)
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly) rs1555166664
NM_001370259.2(MEN1):c.154C>T (p.Arg52Cys) rs1555166664
NM_001370259.2(MEN1):c.1554T>C (p.Pro518=) rs2136084986
NM_001370259.2(MEN1):c.1554T>G (p.Pro518=)
NM_001370259.2(MEN1):c.1555C>T (p.Pro519Ser)
NM_001370259.2(MEN1):c.1556C>T (p.Pro519Leu)
NM_001370259.2(MEN1):c.1556del (p.Pro519fs) rs2136084930
NM_001370259.2(MEN1):c.155G>A (p.Arg52His) rs1942010221
NM_001370259.2(MEN1):c.1560G>A (p.Gly520=) rs969035156
NM_001370259.2(MEN1):c.1561A>C (p.Thr521Pro) rs1565636917
NM_001370259.2(MEN1):c.1561A>G (p.Thr521Ala) rs1565636917
NM_001370259.2(MEN1):c.1561A>T (p.Thr521Ser) rs1565636917
NM_001370259.2(MEN1):c.1562C>G (p.Thr521Ser) rs1565636898
NM_001370259.2(MEN1):c.1562C>T (p.Thr521Ile) rs1565636898
NM_001370259.2(MEN1):c.1564dup (p.Val522fs) rs1941522995
NM_001370259.2(MEN1):c.1565T>C (p.Val522Ala) rs1592631462
NM_001370259.2(MEN1):c.1566C>T (p.Val522=)
NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro) rs760683615
NM_001370259.2(MEN1):c.1569T>A (p.Ala523=) rs1592631415
NM_001370259.2(MEN1):c.1569T>G (p.Ala523=) rs1592631415
NM_001370259.2(MEN1):c.156C>A (p.Arg52=) rs1592659960
NM_001370259.2(MEN1):c.156C>T (p.Arg52=) rs1592659960
NM_001370259.2(MEN1):c.1570G>A (p.Gly524Ser)
NM_001370259.2(MEN1):c.1574del (p.Thr525fs) rs1114167514
NM_001370259.2(MEN1):c.1576G>A (p.Ala526Thr) rs1295193195
NM_001370259.2(MEN1):c.1577C>T (p.Ala526Val)
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=) rs767655504
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.157G>C (p.Val53Leu) rs2136191735
NM_001370259.2(MEN1):c.1583G>A (p.Gly528Asp) rs1555163392
NM_001370259.2(MEN1):c.1584C>G (p.Gly528=) rs1592631208
NM_001370259.2(MEN1):c.1584C>T (p.Gly528=)
NM_001370259.2(MEN1):c.1588G>A (p.Glu530Lys)
NM_001370259.2(MEN1):c.1588G>C (p.Glu530Gln) rs762145604
NM_001370259.2(MEN1):c.1590del (p.Gly531fs) rs886039421
NM_001370259.2(MEN1):c.1591G>A (p.Gly531Ser) rs1592631128
NM_001370259.2(MEN1):c.1592G>A (p.Gly531Asp) rs1941517219
NM_001370259.2(MEN1):c.1595G>A (p.Gly532Asp)
NM_001370259.2(MEN1):c.1597A>G (p.Ser533Gly)
NM_001370259.2(MEN1):c.1599C>T (p.Ser533=)
NM_001370259.2(MEN1):c.159C>A (p.Val53=) rs1411927545
NM_001370259.2(MEN1):c.159C>T (p.Val53=) rs1411927545
NM_001370259.2(MEN1):c.15C>A (p.Ala5=) rs757821521
NM_001370259.2(MEN1):c.15C>T (p.Ala5=)
NM_001370259.2(MEN1):c.1601C>T (p.Thr534Met) rs1192690654
NM_001370259.2(MEN1):c.1602G>A (p.Thr534=) rs1592631034
NM_001370259.2(MEN1):c.1602G>C (p.Thr534=) rs1592631034
NM_001370259.2(MEN1):c.1602G>T (p.Thr534=) rs1592631034
NM_001370259.2(MEN1):c.1605T>C (p.Ala535=) rs2136083318
NM_001370259.2(MEN1):c.1606C>G (p.Gln536Glu)
NM_001370259.2(MEN1):c.1607A>T (p.Gln536Leu)
NM_001370259.2(MEN1):c.1609G>A (p.Val537Met) rs1057521847
NM_001370259.2(MEN1):c.1609G>C (p.Val537Leu) rs1057521847
NM_001370259.2(MEN1):c.1609del (p.Val537fs) rs2136083128
NM_001370259.2(MEN1):c.160del (p.Ile54fs)
NM_001370259.2(MEN1):c.1616C>T (p.Ala539Val)
NM_001370259.2(MEN1):c.1617A>T (p.Ala539=)
NM_001370259.2(MEN1):c.1618C>A (p.Pro540Thr)
NM_001370259.2(MEN1):c.1619C>G (p.Pro540Arg) rs780844361
NM_001370259.2(MEN1):c.1620C>T (p.Pro540=) rs928470958
NM_001370259.2(MEN1):c.1620_1621delinsAG (p.Thr541Ala) rs2136082604
NM_001370259.2(MEN1):c.1620_1621inv (p.Thr541Ala)
NM_001370259.2(MEN1):c.1621A>C (p.Thr541Pro) rs2959656
NM_001370259.2(MEN1):c.1621_1622delinsGA (p.Thr541Glu) rs1941511781
NM_001370259.2(MEN1):c.1625C>T (p.Ala542Val) rs1941511257
NM_001370259.2(MEN1):c.1626A>G (p.Ala542=) rs2136082421
NM_001370259.2(MEN1):c.1628C>T (p.Ser543Leu) rs1592630661
NM_001370259.2(MEN1):c.162C>G (p.Ile54Met)
NM_001370259.2(MEN1):c.162C>T (p.Ile54=) rs1555166662
NM_001370259.2(MEN1):c.162_173del (p.Thr56_Pro59del)
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser) rs1387157979
NM_001370259.2(MEN1):c.1632A>G (p.Pro544=)
NM_001370259.2(MEN1):c.1633CCG[3] (p.Pro546dup) rs774350463
NM_001370259.2(MEN1):c.1634C>T (p.Pro545Leu) rs1592630610
NM_001370259.2(MEN1):c.1636C>T (p.Pro546Ser) rs2136082158
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) rs779413959
NM_001370259.2(MEN1):c.1639G>A (p.Glu547Lys) rs1941508162
NM_001370259.2(MEN1):c.163C>T (p.Pro55Ser)
NM_001370259.2(MEN1):c.1640A>C (p.Glu547Ala) rs914488914
NM_001370259.2(MEN1):c.1641G>A (p.Glu547=) rs1555163295
NM_001370259.2(MEN1):c.1642G>T (p.Gly548Cys)
NM_001370259.2(MEN1):c.1642_1673delinsCC (p.Gly548_Met558delinsPro)
NM_001370259.2(MEN1):c.1646C>T (p.Pro549Leu)
NM_001370259.2(MEN1):c.1647A>G (p.Pro549=) rs2136081746
NM_001370259.2(MEN1):c.1648G>A (p.Val550Met) rs562257963
NM_001370259.2(MEN1):c.1648G>C (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.1649T>C (p.Val550Ala) rs1941506496
NM_001370259.2(MEN1):c.1649T>G (p.Val550Gly) rs1941506496
NM_001370259.2(MEN1):c.164C>T (p.Pro55Leu)
NM_001370259.2(MEN1):c.1651C>T (p.Leu551Phe) rs990141724
NM_001370259.2(MEN1):c.1653C>G (p.Leu551=) rs1592630324
NM_001370259.2(MEN1):c.1654A>G (p.Thr552Ala) rs121913035
NM_001370259.2(MEN1):c.1657_1658del (p.Phe553fs) rs2136081238
NM_001370259.2(MEN1):c.1658T>A (p.Phe553Tyr)
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=) rs1299138529
NM_001370259.2(MEN1):c.165T>A (p.Pro55=) rs1060503790
NM_001370259.2(MEN1):c.165T>C (p.Pro55=) rs1060503790
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter) rs794728631
NM_001370259.2(MEN1):c.1660del (p.Gln554fs) rs2136081113
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs) rs1114167510
NM_001370259.2(MEN1):c.1666G>A (p.Glu556Lys)
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_001370259.2(MEN1):c.1668G>A (p.Glu556=) rs2136080910
NM_001370259.2(MEN1):c.1670A>T (p.Lys557Met)
NM_001370259.2(MEN1):c.1670del (p.Lys557fs) rs1592630079
NM_001370259.2(MEN1):c.1672_1679del (p.Met558fs) rs1941501683
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
NM_001370259.2(MEN1):c.1674G>A (p.Met558Ile)
NM_001370259.2(MEN1):c.1674dup (p.Lys559fs) rs1565635941
NM_001370259.2(MEN1):c.1677G>A (p.Lys559=) rs2136080688
NM_001370259.2(MEN1):c.167C>T (p.Thr56Ile)
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr) rs1941501393
NM_001370259.2(MEN1):c.1686G>A (p.Lys562=) rs2136080412
NM_001370259.2(MEN1):c.1689G>A (p.Glu563=) rs1178628764
NM_001370259.2(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_001370259.2(MEN1):c.1691T>C (p.Leu564Pro) rs2136080204
NM_001370259.2(MEN1):c.1693C>T (p.Leu565=) rs1251646520
NM_001370259.2(MEN1):c.1697T>C (p.Val566Ala)
NM_001370259.2(MEN1):c.1698G>A (p.Val566=) rs2136080002
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro) rs1555163185
NM_001370259.2(MEN1):c.16G>A (p.Ala6Thr) rs966793401
NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser) rs966793401
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs) rs1114167523
NM_001370259.2(MEN1):c.1702A>G (p.Thr568Ala)
NM_001370259.2(MEN1):c.1703C>G (p.Thr568Ser) rs751839903
NM_001370259.2(MEN1):c.1705A>G (p.Lys569Glu)
NM_001370259.2(MEN1):c.1705_1706del (p.Lys569fs)
NM_001370259.2(MEN1):c.1713C>T (p.Asn571=) rs1347492310
NM_001370259.2(MEN1):c.1715C>A (p.Ser572Ter)
NM_001370259.2(MEN1):c.1716G>A (p.Ser572=)
NM_001370259.2(MEN1):c.1718G>A (p.Ser573Asn) rs1257993399
NM_001370259.2(MEN1):c.1719C>T (p.Ser573=)
NM_001370259.2(MEN1):c.171C>A (p.Asn57Lys) rs1171829753
NM_001370259.2(MEN1):c.171C>T (p.Asn57=) rs1171829753
NM_001370259.2(MEN1):c.1720G>A (p.Ala574Thr)
NM_001370259.2(MEN1):c.1724T>C (p.Ile575Thr)
NM_001370259.2(MEN1):c.1725C>G (p.Ile575Met) rs1941495298
NM_001370259.2(MEN1):c.1727A>C (p.Lys576Thr) rs1941495030
NM_001370259.2(MEN1):c.1729C>T (p.Leu577=) rs762744342
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro) rs794728634
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe) rs1328296968
NM_001370259.2(MEN1):c.1738_1739insAA (p.Thr580fs)
NM_001370259.2(MEN1):c.1739C>T (p.Thr580Met) rs1941492703
NM_001370259.2(MEN1):c.1739del (p.Thr580fs) rs864622617
NM_001370259.2(MEN1):c.1749G>T (p.Ser583=) rs765105348
NM_001370259.2(MEN1):c.1752A>G (p.Gln584=)
NM_001370259.2(MEN1):c.1754T>A (p.Val585Glu) rs1592629417
NM_001370259.2(MEN1):c.1754T>G (p.Val585Gly) rs1592629417
NM_001370259.2(MEN1):c.1755G>A (p.Val585=) rs2136078442
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
NM_001370259.2(MEN1):c.175C>G (p.Pro59Ala) rs1352823623
NM_001370259.2(MEN1):c.175C>T (p.Pro59Ser) rs1352823623
NM_001370259.2(MEN1):c.1760T>G (p.Met587Arg)
NM_001370259.2(MEN1):c.1761G>A (p.Met587Ile) rs1555163058
NM_001370259.2(MEN1):c.1762AAG[1] (p.Lys589del) rs1303070443
NM_001370259.2(MEN1):c.1766A>T (p.Lys589Met)
NM_001370259.2(MEN1):c.176C>G (p.Pro59Arg) rs768445858
NM_001370259.2(MEN1):c.1770G>A (p.Gln590=)
NM_001370259.2(MEN1):c.1770G>C (p.Gln590His) rs1470506250
NM_001370259.2(MEN1):c.1775T>C (p.Val592Ala) rs1941489030
NM_001370259.2(MEN1):c.1778C>T (p.Ser593Phe)
NM_001370259.2(MEN1):c.177C>T (p.Pro59=) rs749001511
NM_001370259.2(MEN1):c.1780A>C (p.Thr594Pro)
NM_001370259.2(MEN1):c.1780A>G (p.Thr594Ala) rs1941488490
NM_001370259.2(MEN1):c.1782C>T (p.Thr594=)
NM_001370259.2(MEN1):c.1783C>T (p.Pro595Ser) rs2136077722
NM_001370259.2(MEN1):c.1784C>G (p.Pro595Arg) rs2136077699
NM_001370259.2(MEN1):c.1787G>C (p.Ser596Thr) rs2136077666
NM_001370259.2(MEN1):c.178G>A (p.Glu60Lys) rs1174208039
NM_001370259.2(MEN1):c.1790A>C (p.Asp597Ala)
NM_001370259.2(MEN1):c.1792T>C (p.Tyr598His)
NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=) rs2136077605
NM_001370259.2(MEN1):c.1795A>G (p.Thr599Ala) rs1941487702
NM_001370259.2(MEN1):c.1795A>T (p.Thr599Ser)
NM_001370259.2(MEN1):c.1797T>C (p.Thr599=) rs2136077544
NM_001370259.2(MEN1):c.1798C>T (p.Leu600=) rs2136077489
NM_001370259.2(MEN1):c.1798_1799del (p.Leu600fs) rs1555163017
NM_001370259.2(MEN1):c.1798_1803del (p.Leu600_Ser601del)
NM_001370259.2(MEN1):c.179A>G (p.Glu60Gly) rs1942007547
NM_001370259.2(MEN1):c.17C>T (p.Ala6Val)
NM_001370259.2(MEN1):c.1800G>A (p.Leu600=)
NM_001370259.2(MEN1):c.1800G>C (p.Leu600=)
NM_001370259.2(MEN1):c.1800_1801del (p.Ser601fs)
NM_001370259.2(MEN1):c.1800_1803del (p.Phe602fs)
NM_001370259.2(MEN1):c.1801T>C (p.Ser601Pro) rs1941486843
NM_001370259.2(MEN1):c.1802C>G (p.Ser601Cys)
NM_001370259.2(MEN1):c.1805dup (p.Leu603fs) rs1941486297
NM_001370259.2(MEN1):c.1806C>T (p.Phe602=) rs1060503794
NM_001370259.2(MEN1):c.180G>A (p.Glu60=) rs2136190736
NM_001370259.2(MEN1):c.1812G>C (p.Lys604Asn)
NM_001370259.2(MEN1):c.1813C>G (p.Arg605Gly) rs2136077141
NM_001370259.2(MEN1):c.1814G>A (p.Arg605Gln) rs1555163002
NM_001370259.2(MEN1):c.1814G>T (p.Arg605Leu) rs1555163002
NM_001370259.2(MEN1):c.1818G>A (p.Gln606=)
NM_001370259.2(MEN1):c.1819C>A (p.Arg607Ser)
NM_001370259.2(MEN1):c.1819C>T (p.Arg607Cys) rs770686655
NM_001370259.2(MEN1):c.181C>T (p.Leu61Phe)
NM_001370259.2(MEN1):c.1821C>T (p.Arg607=) rs2136076868
NM_001370259.2(MEN1):c.1822A>G (p.Lys608Glu) rs2136076826
NM_001370259.2(MEN1):c.1824A>C (p.Lys608Asn)
NM_001370259.2(MEN1):c.1826G>T (p.Gly609Val) rs1186858249
NM_001370259.2(MEN1):c.1828C>T (p.Leu610Phe) rs1941484511
NM_001370259.2(MEN1):c.1830C>G (p.Leu610=)
NM_001370259.2(MEN1):c.1831_1832del (p.Ter611AsnextTer?)
NM_001370259.2(MEN1):c.183C>A (p.Leu61=) rs1555166622
NM_001370259.2(MEN1):c.183C>T (p.Leu61=)
NM_001370259.2(MEN1):c.184A>C (p.Thr62Pro) rs1555166619
NM_001370259.2(MEN1):c.189C>T (p.Phe63=) rs137880635
NM_001370259.2(MEN1):c.190C>A (p.Gln64Lys)
NM_001370259.2(MEN1):c.190C>T (p.Gln64Ter)
NM_001370259.2(MEN1):c.193C>A (p.Pro65Thr) rs1235900915
NM_001370259.2(MEN1):c.194C>A (p.Pro65His) rs1114167484
NM_001370259.2(MEN1):c.195C>A (p.Pro65=) rs1438097332
NM_001370259.2(MEN1):c.195C>T (p.Pro65=) rs1438097332
NM_001370259.2(MEN1):c.195del (p.Ser66fs)
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg) rs1942005110
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.197G>C (p.Ser66Thr)
NM_001370259.2(MEN1):c.197G>T (p.Ser66Ile)
NM_001370259.2(MEN1):c.198C>T (p.Ser66=) rs2136189969
NM_001370259.2(MEN1):c.19C>A (p.Gln7Lys)
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter) rs1942027113
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.200C>G (p.Pro67Arg) rs757766498
NM_001370259.2(MEN1):c.201C>T (p.Pro67=) rs1060503791
NM_001370259.2(MEN1):c.201del (p.Ala68fs) rs2136189816
NM_001370259.2(MEN1):c.202G>A (p.Ala68Thr) rs1343345477
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs) rs730882136
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val) rs1319371332
NM_001370259.2(MEN1):c.204C>A (p.Ala68=) rs2136189673
NM_001370259.2(MEN1):c.204C>T (p.Ala68=) rs2136189673
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser) rs1060499995
NM_001370259.2(MEN1):c.207C>A (p.Pro69=) rs2136189522
NM_001370259.2(MEN1):c.207del (p.Asp70fs) rs1057517902
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn) rs1283021293
NM_001370259.2(MEN1):c.208G>T (p.Asp70Tyr) rs1283021293
NM_001370259.2(MEN1):c.208_211del (p.Asp70fs)
NM_001370259.2(MEN1):c.209A>G (p.Asp70Gly)
NM_001370259.2(MEN1):c.210C>G (p.Asp70Glu) rs150308912
NM_001370259.2(MEN1):c.210C>T (p.Asp70=)
NM_001370259.2(MEN1):c.211C>G (p.Pro71Ala)
NM_001370259.2(MEN1):c.211C>T (p.Pro71Ser) rs1592659522
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_001370259.2(MEN1):c.213G>A (p.Pro71=) rs778154183
NM_001370259.2(MEN1):c.213G>T (p.Pro71=) rs778154183
NM_001370259.2(MEN1):c.215C>T (p.Pro72Leu) rs878856863
NM_001370259.2(MEN1):c.216T>G (p.Pro72=) rs1592659467
NM_001370259.2(MEN1):c.216_217insA (p.Gly73fs)
NM_001370259.2(MEN1):c.217G>T (p.Gly73Cys)
NM_001370259.2(MEN1):c.219C>A (p.Gly73=)
NM_001370259.2(MEN1):c.21G>A (p.Gln7=) rs1422628649
NM_001370259.2(MEN1):c.220G>T (p.Gly74Cys) rs2136188922
NM_001370259.2(MEN1):c.225C>A (p.Leu75=) rs1333791405
NM_001370259.2(MEN1):c.225C>T (p.Leu75=) rs1333791405
NM_001370259.2(MEN1):c.226A>T (p.Thr76Ser) rs1592659343
NM_001370259.2(MEN1):c.227C>A (p.Thr76Asn) rs886039752
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile)
NM_001370259.2(MEN1):c.228C>G (p.Thr76=) rs1394017906
NM_001370259.2(MEN1):c.228C>T (p.Thr76=) rs1394017906
NM_001370259.2(MEN1):c.229T>C (p.Tyr77His)
NM_001370259.2(MEN1):c.22A>G (p.Lys8Glu) rs1942026565
NM_001370259.2(MEN1):c.230A>G (p.Tyr77Cys)
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.233T>C (p.Phe78Ser)
NM_001370259.2(MEN1):c.233T>G (p.Phe78Cys)
NM_001370259.2(MEN1):c.234T>C (p.Phe78=) rs2136188387
NM_001370259.2(MEN1):c.234del (p.Val80fs) rs2136188431
NM_001370259.2(MEN1):c.234dup (p.Pro79fs) rs2136188431
NM_001370259.2(MEN1):c.235C>G (p.Pro79Ala)
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_001370259.2(MEN1):c.236C>T (p.Pro79Leu) rs1555166557
NM_001370259.2(MEN1):c.237C>G (p.Pro79=) rs1592659200
NM_001370259.2(MEN1):c.237C>T (p.Pro79=) rs1592659200
NM_001370259.2(MEN1):c.237del (p.Val80fs) rs1114167486
NM_001370259.2(MEN1):c.238G>A (p.Val80Met)
NM_001370259.2(MEN1):c.238del (p.Val80fs) rs2136188216
NM_001370259.2(MEN1):c.240G>T (p.Val80=) rs1555166545
NM_001370259.2(MEN1):c.241G>A (p.Ala81Thr) rs2136188110
NM_001370259.2(MEN1):c.241del (p.Ala81fs)
NM_001370259.2(MEN1):c.243C>T (p.Ala81=)
NM_001370259.2(MEN1):c.244G>A (p.Asp82Asn) rs1419086083
NM_001370259.2(MEN1):c.244G>C (p.Asp82His) rs1419086083
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
NM_001370259.2(MEN1):c.246C>T (p.Asp82=) rs1238113583
NM_001370259.2(MEN1):c.247_249dup (p.Leu83_Ser84insLeu)
NM_001370259.2(MEN1):c.248T>A (p.Leu83Gln) rs752747097
NM_001370259.2(MEN1):c.248_266del (p.Leu83fs) rs2136187161
NM_001370259.2(MEN1):c.249G>A (p.Leu83=) rs386134252
NM_001370259.2(MEN1):c.249G>C (p.Leu83=)
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.249_266del (p.Ser84_Leu89del)
NM_001370259.2(MEN1):c.24G>A (p.Lys8=) rs2136196440
NM_001370259.2(MEN1):c.252T>C (p.Ser84=) rs1592658989
NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)
NM_001370259.2(MEN1):c.256A>G (p.Ile86Val)
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)
NM_001370259.2(MEN1):c.259_260delinsTA (p.Ala87Tyr)
NM_001370259.2(MEN1):c.259_260insTCGC (p.Ala87fs)
NM_001370259.2(MEN1):c.262G>A (p.Ala88Thr)
NM_001370259.2(MEN1):c.263C>A (p.Ala88Asp)
NM_001370259.2(MEN1):c.263C>G (p.Ala88Gly)
NM_001370259.2(MEN1):c.265C>T (p.Leu89Phe)
NM_001370259.2(MEN1):c.266T>C (p.Leu89Pro) rs2136187120
NM_001370259.2(MEN1):c.266_286del (p.Leu89_Ala95del) rs1064792906
NM_001370259.2(MEN1):c.267C>G (p.Leu89=) rs1060499972
NM_001370259.2(MEN1):c.267C>T (p.Leu89=)
NM_001370259.2(MEN1):c.269A>C (p.Tyr90Ser)
NM_001370259.2(MEN1):c.269A>G (p.Tyr90Cys) rs1565651873
NM_001370259.2(MEN1):c.269_270dup (p.Ala91fs) rs1941994887
NM_001370259.2(MEN1):c.269dup (p.Tyr90Ter) rs2136187018
NM_001370259.2(MEN1):c.26C>T (p.Thr9Met)
NM_001370259.2(MEN1):c.270T>C (p.Tyr90=)
NM_001370259.2(MEN1):c.271G>T (p.Ala91Ser) rs2136186838
NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser) rs1488275961
NM_001370259.2(MEN1):c.274C>G (p.Arg92Gly) rs1488275961
NM_001370259.2(MEN1):c.274C>T (p.Arg92Cys) rs1488275961
NM_001370259.2(MEN1):c.274del (p.Arg92fs) rs2136186754
NM_001370259.2(MEN1):c.27G>A (p.Thr9=) rs1190267704
NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs) rs1555166494
NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile) rs1565651820
NM_001370259.2(MEN1):c.282C>T (p.Thr94=) rs760442763
NM_001370259.2(MEN1):c.283G>A (p.Ala95Thr)
NM_001370259.2(MEN1):c.283G>T (p.Ala95Ser) rs1592658740
NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter)
NM_001370259.2(MEN1):c.288G>A (p.Gln96=) rs2136185997
NM_001370259.2(MEN1):c.28C>T (p.Leu10=) rs2136196333
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter) rs886039413
NM_001370259.2(MEN1):c.293G>A (p.Arg98Gln) rs1592658694
NM_001370259.2(MEN1):c.294A>T (p.Arg98=) rs2136185660
NM_001370259.2(MEN1):c.296G>C (p.Gly99Ala) rs1941992512
NM_001370259.2(MEN1):c.297C>T (p.Gly99=)
NM_001370259.2(MEN1):c.298G>T (p.Ala100Ser) rs1592658683
NM_001370259.2(MEN1):c.29T>A (p.Leu10Gln)
NM_001370259.2(MEN1):c.29T>C (p.Leu10Pro)
NM_001370259.2(MEN1):c.29T>G (p.Leu10Arg) rs1942026011
NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)
NM_001370259.2(MEN1):c.300C>T (p.Ala100=) rs773136972
NM_001370259.2(MEN1):c.301G>A (p.Val101Ile) rs1242887389
NM_001370259.2(MEN1):c.302T>C (p.Val101Ala) rs771936005
NM_001370259.2(MEN1):c.303C>G (p.Val101=) rs1463347315
NM_001370259.2(MEN1):c.306C>T (p.Asp102=)
NM_001370259.2(MEN1):c.307C>T (p.Leu103=) rs1313314117
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.308T>A (p.Leu103Gln)
NM_001370259.2(MEN1):c.308T>G (p.Leu103Arg) rs2136184835
NM_001370259.2(MEN1):c.30G>C (p.Leu10=)
NM_001370259.2(MEN1):c.311C>T (p.Ser104Phe) rs1114167512
NM_001370259.2(MEN1):c.312C>T (p.Ser104=) rs1592658525
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs) rs1592658517
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val) rs1941990096
NM_001370259.2(MEN1):c.313C>T (p.Leu105Phe) rs1941990096
NM_001370259.2(MEN1):c.313dup (p.Leu105fs) rs2136184555
NM_001370259.2(MEN1):c.316T>C (p.Tyr106His)
NM_001370259.2(MEN1):c.317A>G (p.Tyr106Cys) rs1555166469
NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs) rs1555166466
NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter) rs1060499987
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)
NM_001370259.2(MEN1):c.319C>T (p.Pro107Ser) rs1358503577
NM_001370259.2(MEN1):c.320C>T (p.Pro107Leu)
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.321T>C (p.Pro107=) rs2136184097
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter) rs794728647
NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs) rs1565651568
NM_001370259.2(MEN1):c.323del (p.Arg108fs) rs878855191
NM_001370259.2(MEN1):c.326A>G (p.Glu109Gly) rs1555166447
NM_001370259.2(MEN1):c.327A>C (p.Glu109Asp) rs773976527
NM_001370259.2(MEN1):c.329G>C (p.Gly110Ala) rs1389398299
NM_001370259.2(MEN1):c.330G>C (p.Gly110=) rs1060503792
NM_001370259.2(MEN1):c.331G>C (p.Gly111Arg) rs1941987221
NM_001370259.2(MEN1):c.332G>A (p.Gly111Asp)
NM_001370259.2(MEN1):c.332G>T (p.Gly111Val) rs2136183365
NM_001370259.2(MEN1):c.332del (p.Gly111fs)
NM_001370259.2(MEN1):c.333T>C (p.Gly111=) rs1555166432
NM_001370259.2(MEN1):c.336C>T (p.Val112=) rs1200092213
NM_001370259.2(MEN1):c.338C>T (p.Ser113Phe) rs1941986326
NM_001370259.2(MEN1):c.33C>G (p.Phe11Leu)
NM_001370259.2(MEN1):c.33C>T (p.Phe11=)
NM_001370259.2(MEN1):c.340A>C (p.Ser114Arg) rs2136182944
NM_001370259.2(MEN1):c.340A>G (p.Ser114Gly)
NM_001370259.2(MEN1):c.340dup (p.Ser114fs) rs886041213
NM_001370259.2(MEN1):c.342C>T (p.Ser114=) rs2136182809
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly) rs1565651402
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter) rs1060499992
NM_001370259.2(MEN1):c.350T>A (p.Leu117Gln)
NM_001370259.2(MEN1):c.350del (p.Leu117fs) rs1555166387
NM_001370259.2(MEN1):c.351G>A (p.Leu117=)
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.356A>G (p.Lys119Arg)
NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter) rs878855192
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu) rs794728614
NM_001370259.2(MEN1):c.35dup (p.Leu13fs)
NM_001370259.2(MEN1):c.360G>A (p.Lys120=) rs1477714779
NM_001370259.2(MEN1):c.361G>A (p.Val121Ile) rs863224812
NM_001370259.2(MEN1):c.361G>T (p.Val121Phe) rs863224812
NM_001370259.2(MEN1):c.364T>C (p.Ser122Pro) rs1941983276
NM_001370259.2(MEN1):c.366C>T (p.Ser122=) rs1592658043
NM_001370259.2(MEN1):c.367G>A (p.Asp123Asn) rs1941982745
NM_001370259.2(MEN1):c.367del (p.Asp123fs) rs1941982919
NM_001370259.2(MEN1):c.369T>C (p.Asp123=) rs1555166369
NM_001370259.2(MEN1):c.36G>A (p.Pro12=) rs775721366
NM_001370259.2(MEN1):c.36G>T (p.Pro12=) rs775721366
NM_001370259.2(MEN1):c.371_372del (p.Val124fs) rs1555166368
NM_001370259.2(MEN1):c.373A>T (p.Ile125Leu) rs1941982271
NM_001370259.2(MEN1):c.374T>C (p.Ile125Thr) rs1941982084
NM_001370259.2(MEN1):c.374dup (p.Trp126fs)
NM_001370259.2(MEN1):c.375A>C (p.Ile125=) rs184896922
NM_001370259.2(MEN1):c.375_376del (p.Ile125fs)
NM_001370259.2(MEN1):c.376T>C (p.Trp126Arg) rs1592657993
NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter) rs2136181049
NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter) rs1555166365
NM_001370259.2(MEN1):c.378G>T (p.Trp126Cys)
NM_001370259.2(MEN1):c.378_389del (p.Trp126_Ser130delinsCys)
NM_001370259.2(MEN1):c.380A>G (p.Asn127Ser) rs2136180841
NM_001370259.2(MEN1):c.381C>G (p.Asn127Lys) rs1941981145
NM_001370259.2(MEN1):c.386del (p.Leu129fs) rs1565651223
NM_001370259.2(MEN1):c.388A>T (p.Ser130Cys) rs2136180487
NM_001370259.2(MEN1):c.38T>C (p.Leu13Pro) rs1262285748
NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg) rs1262285748
NM_001370259.2(MEN1):c.391C>T (p.Arg131Cys) rs2136180282
NM_001370259.2(MEN1):c.392_407dup (p.Asp136fs)
NM_001370259.2(MEN1):c.398A>G (p.Tyr133Cys) rs1555166357
NM_001370259.2(MEN1):c.399C>T (p.Tyr133=) rs1592657892
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.403A>C (p.Lys135Gln) rs121913034
NM_001370259.2(MEN1):c.406G>C (p.Asp136His) rs1941979334
NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs) rs1592657785
NM_001370259.2(MEN1):c.407_414del (p.Asp136fs)
NM_001370259.2(MEN1):c.409C>A (p.Arg137=) rs1208267598
NM_001370259.2(MEN1):c.409C>G (p.Arg137Gly)
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp) rs1208267598
NM_001370259.2(MEN1):c.40C>T (p.Arg14Cys) rs1209178117
NM_001370259.2(MEN1):c.411G>C (p.Arg137=) rs371437505
NM_001370259.2(MEN1):c.411G>T (p.Arg137=) rs371437505
NM_001370259.2(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_001370259.2(MEN1):c.415C>T (p.His139Tyr) rs104894263
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
NM_001370259.2(MEN1):c.416A>G (p.His139Arg) rs1114167515
NM_001370259.2(MEN1):c.416del (p.His139fs)
NM_001370259.2(MEN1):c.417C>A (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.417C>T (p.His139=)
NM_001370259.2(MEN1):c.418A>G (p.Ile140Val)
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe) rs376510601
NM_001370259.2(MEN1):c.418dup (p.Ile140fs)
NM_001370259.2(MEN1):c.41G>C (p.Arg14Pro)
NM_001370259.2(MEN1):c.41G>T (p.Arg14Leu)
NM_001370259.2(MEN1):c.41_42delinsT (p.Arg14fs)
NM_001370259.2(MEN1):c.420C>T (p.Ile140=)
NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter) rs886039553
NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg) rs758846538
NM_001370259.2(MEN1):c.422A>T (p.Gln141Leu)
NM_001370259.2(MEN1):c.425C>A (p.Ser142Tyr) rs1941976986
NM_001370259.2(MEN1):c.425C>G (p.Ser142Cys) rs1941976986
NM_001370259.2(MEN1):c.425C>T (p.Ser142Phe) rs1941976986
NM_001370259.2(MEN1):c.427C>G (p.Leu143Val)
NM_001370259.2(MEN1):c.428T>C (p.Leu143Pro) rs2136178143
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)
NM_001370259.2(MEN1):c.429C>A (p.Leu143=)
NM_001370259.2(MEN1):c.429C>G (p.Leu143=)
NM_001370259.2(MEN1):c.42C>G (p.Arg14=) rs765446407
NM_001370259.2(MEN1):c.42C>T (p.Arg14=)
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.431T>C (p.Phe144Ser)
NM_001370259.2(MEN1):c.432C>A (p.Phe144Leu) rs2136177828
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)
NM_001370259.2(MEN1):c.432del (p.Phe144fs) rs1064793613
NM_001370259.2(MEN1):c.433A>C (p.Ser145Arg) rs778932605
NM_001370259.2(MEN1):c.434G>A (p.Ser145Asn)
NM_001370259.2(MEN1):c.434G>C (p.Ser145Thr)
NM_001370259.2(MEN1):c.439A>G (p.Ile147Val)
NM_001370259.2(MEN1):c.441C>A (p.Ile147=)
NM_001370259.2(MEN1):c.441C>T (p.Ile147=) rs878855193
NM_001370259.2(MEN1):c.442A>G (p.Thr148Ala) rs1114167537
NM_001370259.2(MEN1):c.442del (p.Thr148fs) rs1941975256
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)
NM_001370259.2(MEN1):c.445+10C>T rs754044830
NM_001370259.2(MEN1):c.445+1G>A
NM_001370259.2(MEN1):c.445+1G>T
NM_001370259.2(MEN1):c.445+3T>C rs2136177528
NM_001370259.2(MEN1):c.445+4G>A rs1941974933
NM_001370259.2(MEN1):c.445+5G>A rs1941974766
NM_001370259.2(MEN1):c.445+7G>T rs2136177428
NM_001370259.2(MEN1):c.445+9C>G rs2136177395
NM_001370259.2(MEN1):c.446-10C>A rs1442401628
NM_001370259.2(MEN1):c.446-10C>T rs1442401628
NM_001370259.2(MEN1):c.446-12C>G
NM_001370259.2(MEN1):c.446-12C>T rs369411199
NM_001370259.2(MEN1):c.446-13C>T
NM_001370259.2(MEN1):c.446-17A>G
NM_001370259.2(MEN1):c.446-18T>C rs2136160575
NM_001370259.2(MEN1):c.446-1G>A rs1064793672
NM_001370259.2(MEN1):c.446-1G>C rs1064793672
NM_001370259.2(MEN1):c.446-2A>C rs886042035
NM_001370259.2(MEN1):c.446-2A>G rs886042035
NM_001370259.2(MEN1):c.446-3C>G
NM_001370259.2(MEN1):c.446-3C>T rs377461506
NM_001370259.2(MEN1):c.446-5C>A
NM_001370259.2(MEN1):c.446-6C>A rs1941875791
NM_001370259.2(MEN1):c.446-7T>C rs2136160148
NM_001370259.2(MEN1):c.446-9C>A rs1371109251
NM_001370259.2(MEN1):c.446-9C>G rs1371109251
NM_001370259.2(MEN1):c.446-9C>T
NM_001370259.2(MEN1):c.446G>T (p.Gly149Val) rs1444210255
NM_001370259.2(MEN1):c.447C>T (p.Gly149=)
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys) rs1056705868
NM_001370259.2(MEN1):c.44C>T (p.Ser15Phe) rs1056705868
NM_001370259.2(MEN1):c.450C>T (p.Thr150=)
NM_001370259.2(MEN1):c.450del (p.Lys151fs)
NM_001370259.2(MEN1):c.451A>G (p.Lys151Glu) rs2136159555
NM_001370259.2(MEN1):c.452A>G (p.Lys151Arg) rs2136159495
NM_001370259.2(MEN1):c.454T>C (p.Leu152=)
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala) rs1565648789
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val) rs1565648789
NM_001370259.2(MEN1):c.459C>T (p.Asp153=)
NM_001370259.2(MEN1):c.45C>T (p.Ser15=)
NM_001370259.2(MEN1):c.461G>T (p.Ser154Ile) rs1941873896
NM_001370259.2(MEN1):c.464C>T (p.Ser155Phe)
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs) rs386134255
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg) rs1085307471
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys) rs1085307471
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp) rs794728648
NM_001370259.2(MEN1):c.469G>A (p.Val157Met) rs1555165872
NM_001370259.2(MEN1):c.46A>T (p.Ile16Phe)
NM_001370259.2(MEN1):c.472G>A (p.Ala158Thr) rs1421808873
NM_001370259.2(MEN1):c.472G>C (p.Ala158Pro)
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp) rs794728617
NM_001370259.2(MEN1):c.474del (p.Phe159fs) rs2136158237
NM_001370259.2(MEN1):c.477T>G (p.Phe159Leu) rs1941871397
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro) rs1565648656
NM_001370259.2(MEN1):c.47T>C (p.Ile16Thr)
NM_001370259.2(MEN1):c.480T>C (p.Ala160=) rs2136157794
NM_001370259.2(MEN1):c.481G>A (p.Val161Met) rs1268563474
NM_001370259.2(MEN1):c.483G>A (p.Val161=)
NM_001370259.2(MEN1):c.484G>A (p.Val162Ile) rs2136157511
NM_001370259.2(MEN1):c.489G>A (p.Gly163=) rs2136157212
NM_001370259.2(MEN1):c.490G>T (p.Ala164Ser) rs1311408888
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val) rs1565648547
NM_001370259.2(MEN1):c.492del (p.Cys165fs)
NM_001370259.2(MEN1):c.493T>C (p.Cys165Arg)
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr) rs1057521111
NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter) rs1592651767
NM_001370259.2(MEN1):c.496C>A (p.Gln166Lys) rs1565648511
NM_001370259.2(MEN1):c.496C>G (p.Gln166Glu) rs1565648511
NM_001370259.2(MEN1):c.497A>C (p.Gln166Pro)
NM_001370259.2(MEN1):c.498G>A (p.Gln166=)
NM_001370259.2(MEN1):c.498G>C (p.Gln166His)
NM_001370259.2(MEN1):c.499G>A (p.Ala167Thr)
NM_001370259.2(MEN1):c.4G>A (p.Gly2Arg)
NM_001370259.2(MEN1):c.502C>G (p.Leu168Val) rs1555165846
NM_001370259.2(MEN1):c.502C>T (p.Leu168=) rs1555165846
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro) rs386134256
NM_001370259.2(MEN1):c.504G>A (p.Leu168=) rs1941867763
NM_001370259.2(MEN1):c.505G>A (p.Gly169Ser) rs71526465
NM_001370259.2(MEN1):c.505G>C (p.Gly169Arg) rs71526465
NM_001370259.2(MEN1):c.506_507dup (p.Leu170fs) rs2136156268
NM_001370259.2(MEN1):c.507T>G (p.Gly169=)
NM_001370259.2(MEN1):c.508C>G (p.Leu170Val)
NM_001370259.2(MEN1):c.509T>C (p.Leu170Pro) rs1941866849
NM_001370259.2(MEN1):c.510C>T (p.Leu170=)
NM_001370259.2(MEN1):c.511C>G (p.Arg171Gly) rs143329068
NM_001370259.2(MEN1):c.512G>C (p.Arg171Pro) rs607969
NM_001370259.2(MEN1):c.514G>C (p.Asp172His) rs1114167494
NM_001370259.2(MEN1):c.516T>C (p.Asp172=) rs912509147
NM_001370259.2(MEN1):c.519C>G (p.Val173=)
NM_001370259.2(MEN1):c.51C>T (p.Asp17=) rs2136195633
NM_001370259.2(MEN1):c.520C>T (p.His174Tyr)
NM_001370259.2(MEN1):c.525_526insTT (p.Ala176fs) rs1941864588
NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr) rs376872829
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_001370259.2(MEN1):c.528C>A (p.Ala176=) rs1311592330
NM_001370259.2(MEN1):c.528C>G (p.Ala176=) rs1311592330
NM_001370259.2(MEN1):c.529C>G (p.Leu177Val) rs865919253
NM_001370259.2(MEN1):c.52G>T (p.Asp18Tyr) rs2136195598
NM_001370259.2(MEN1):c.530T>C (p.Leu177Pro) rs2136154828
NM_001370259.2(MEN1):c.531G>C (p.Leu177=)
NM_001370259.2(MEN1):c.534dup (p.Glu179Ter) rs2136154587
NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp) rs1555165811
NM_001370259.2(MEN1):c.537_538delinsTT (p.Glu179_Asp180delinsAspTyr) rs1555165809
NM_001370259.2(MEN1):c.538G>T (p.Asp180Tyr) rs2136154322
NM_001370259.2(MEN1):c.540T>A (p.Asp180Glu)
NM_001370259.2(MEN1):c.542A>G (p.His181Arg) rs1941861451
NM_001370259.2(MEN1):c.544G>C (p.Ala182Pro)
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) rs794728650
NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)
NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys) rs2136153753
NM_001370259.2(MEN1):c.54C>A (p.Asp18Glu)
NM_001370259.2(MEN1):c.54C>T (p.Asp18=) rs1316973259
NM_001370259.2(MEN1):c.550G>A (p.Val184Ile)
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu) rs104894262
NM_001370259.2(MEN1):c.553G>C (p.Val185Leu) rs1265797059
NM_001370259.2(MEN1):c.554T>C (p.Val185Ala) rs764847812
NM_001370259.2(MEN1):c.555G>T (p.Val185=) rs1178007625
NM_001370259.2(MEN1):c.556T>C (p.Phe186Leu)
NM_001370259.2(MEN1):c.55G>C (p.Val19Leu)
NM_001370259.2(MEN1):c.560G>C (p.Gly187Ala)
NM_001370259.2(MEN1):c.561G>A (p.Gly187=)
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs) rs1555165756
NM_001370259.2(MEN1):c.564del (p.Asn189fs)
NM_001370259.2(MEN1):c.567T>A (p.Asn189Lys) rs1212919060
NM_001370259.2(MEN1):c.569G>A (p.Gly190Glu) rs878855195
NM_001370259.2(MEN1):c.573G>T (p.Glu191Asp) rs1592651018
NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter)
NM_001370259.2(MEN1):c.576G>C (p.Gln192His)
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)
NM_001370259.2(MEN1):c.578C>A (p.Thr193Lys) rs1592650971
NM_001370259.2(MEN1):c.578C>G (p.Thr193Arg) rs1592650971
NM_001370259.2(MEN1):c.578C>T (p.Thr193Ile) rs1592650971
NM_001370259.2(MEN1):c.578dup (p.Ala194fs)
NM_001370259.2(MEN1):c.579A>T (p.Thr193=)
NM_001370259.2(MEN1):c.57G>A (p.Val19=) rs759282395
NM_001370259.2(MEN1):c.581C>G (p.Ala194Gly) rs2136152165
NM_001370259.2(MEN1):c.582T>A (p.Ala194=) rs1592650942
NM_001370259.2(MEN1):c.582T>G (p.Ala194=) rs1592650942
NM_001370259.2(MEN1):c.584_586del (p.Glu195del) rs2136151782
NM_001370259.2(MEN1):c.584_593del (p.Glu195fs)
NM_001370259.2(MEN1):c.585G>A (p.Glu195=) rs864622177
NM_001370259.2(MEN1):c.586G>A (p.Val196Ile) rs2136151708
NM_001370259.2(MEN1):c.588C>T (p.Val196=) rs1592650906
NM_001370259.2(MEN1):c.58G>T (p.Val20Leu) rs1942022491
NM_001370259.2(MEN1):c.590C>A (p.Thr197Asn)
NM_001370259.2(MEN1):c.590C>T (p.Thr197Ile) rs1592650893
NM_001370259.2(MEN1):c.591C>G (p.Thr197=) rs527294715
NM_001370259.2(MEN1):c.591C>T (p.Thr197=) rs527294715
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter) rs104894258
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter) rs104894257
NM_001370259.2(MEN1):c.597C>A (p.His199Gln) rs150512958
NM_001370259.2(MEN1):c.598G>A (p.Gly200Ser) rs1592650813
NM_001370259.2(MEN1):c.59T>G (p.Val20Gly)
NM_001370259.2(MEN1):c.5G>A (p.Gly2Glu) rs1592661296
NM_001370259.2(MEN1):c.601A>G (p.Lys201Glu)
NM_001370259.2(MEN1):c.603G>A (p.Lys201=)
NM_001370259.2(MEN1):c.605G>A (p.Gly202Asp) rs1941854779
NM_001370259.2(MEN1):c.605del (p.Gly202fs)
NM_001370259.2(MEN1):c.606C>A (p.Gly202=)
NM_001370259.2(MEN1):c.609C>G (p.Asn203Lys) rs749844029
NM_001370259.2(MEN1):c.60G>A (p.Val20=)
NM_001370259.2(MEN1):c.60G>C (p.Val20=) rs776432516
NM_001370259.2(MEN1):c.612G>C (p.Glu204Asp)
NM_001370259.2(MEN1):c.615C>T (p.Asp205=) rs1941854403
NM_001370259.2(MEN1):c.617G>A (p.Arg206His) rs1565647825
NM_001370259.2(MEN1):c.617G>C (p.Arg206Pro)
NM_001370259.2(MEN1):c.617G>T (p.Arg206Leu)
NM_001370259.2(MEN1):c.618C>T (p.Arg206=) rs1555165717
NM_001370259.2(MEN1):c.619A>G (p.Arg207Gly) rs1941853632
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418
NM_001370259.2(MEN1):c.61C>G (p.Arg21Gly) rs541476418
NM_001370259.2(MEN1):c.61C>T (p.Arg21Cys) rs541476418
NM_001370259.2(MEN1):c.623_1050-143del
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter) rs1565647767
NM_001370259.2(MEN1):c.625del (p.Gln209fs) rs1114167538
NM_001370259.2(MEN1):c.627G>A (p.Gln209=) rs1565647751
NM_001370259.2(MEN1):c.627G>C (p.Gln209His) rs1565647751
NM_001370259.2(MEN1):c.627G>T (p.Gln209His) rs1565647751
NM_001370259.2(MEN1):c.628A>C (p.Thr210Pro)
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370259.2(MEN1):c.629C>A (p.Thr210Lys) rs756287855
NM_001370259.2(MEN1):c.629C>G (p.Thr210Arg) rs756287855
NM_001370259.2(MEN1):c.630A>C (p.Thr210=) rs1592650685
NM_001370259.2(MEN1):c.630A>G (p.Thr210=)
NM_001370259.2(MEN1):c.631_634del (p.Val211fs) rs1941851693
NM_001370259.2(MEN1):c.632T>G (p.Val211Gly) rs1565647698
NM_001370259.2(MEN1):c.633del (p.Asn212fs) rs878855196
NM_001370259.2(MEN1):c.634A>G (p.Asn212Asp) rs1060499980
NM_001370259.2(MEN1):c.636T>G (p.Asn212Lys)
NM_001370259.2(MEN1):c.637G>A (p.Ala213Thr)
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu) rs1114167518
NM_001370259.2(MEN1):c.639C>A (p.Ala213=) rs746067825
NM_001370259.2(MEN1):c.639del (p.Gly214fs) rs1941850919
NM_001370259.2(MEN1):c.63C>T (p.Arg21=) rs1018289242
NM_001370259.2(MEN1):c.640G>T (p.Gly214Cys) rs781493730
NM_001370259.2(MEN1):c.641G>C (p.Gly214Ala) rs2136148915
NM_001370259.2(MEN1):c.641G>T (p.Gly214Val)
NM_001370259.2(MEN1):c.643G>A (p.Val215Met) rs794728621
NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp) rs386134257
NM_001370259.2(MEN1):c.645G>A (p.Val215=) rs1347044526
NM_001370259.2(MEN1):c.646G>C (p.Ala216Pro) rs1592650523
NM_001370259.2(MEN1):c.646del (p.Ala216fs) rs2136148702
NM_001370259.2(MEN1):c.647C>T (p.Ala216Val) rs2136148590
NM_001370259.2(MEN1):c.649_654+2del rs386134258
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
NM_001370259.2(MEN1):c.64C>T (p.Leu22=) rs1592660695
NM_001370259.2(MEN1):c.652C>A (p.Arg218=) rs794728620
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln) rs1423517569
NM_001370259.2(MEN1):c.653G>C (p.Arg218Pro) rs1423517569
NM_001370259.2(MEN1):c.654+10C>A rs921850475
NM_001370259.2(MEN1):c.654+10C>T rs921850475
NM_001370259.2(MEN1):c.654+11C>T rs1941846380
NM_001370259.2(MEN1):c.654+12T>A
NM_001370259.2(MEN1):c.654+13C>A
NM_001370259.2(MEN1):c.654+14C>T
NM_001370259.2(MEN1):c.654+15C>G rs1262314762
NM_001370259.2(MEN1):c.654+15C>T
NM_001370259.2(MEN1):c.654+16C>A rs2136147604
NM_001370259.2(MEN1):c.654+17C>A
NM_001370259.2(MEN1):c.654+17C>G rs764070489
NM_001370259.2(MEN1):c.654+17C>T
NM_001370259.2(MEN1):c.654+18C>A
NM_001370259.2(MEN1):c.654+18C>G rs180737290
NM_001370259.2(MEN1):c.654+18C>T rs180737290
NM_001370259.2(MEN1):c.654+18del rs112700230
NM_001370259.2(MEN1):c.654+18dup rs112700230
NM_001370259.2(MEN1):c.654+1G>A rs794728622
NM_001370259.2(MEN1):c.654+1G>T rs794728622
NM_001370259.2(MEN1):c.654+1del rs1057518903
NM_001370259.2(MEN1):c.654+3A>G rs1064793168
NM_001370259.2(MEN1):c.654+4T>C rs1941847622
NM_001370259.2(MEN1):c.654+6G>T rs1941847253
NM_001370259.2(MEN1):c.654+9C>A rs202134234
NM_001370259.2(MEN1):c.654+9C>G rs202134234
NM_001370259.2(MEN1):c.654G>A (p.Arg218=)
NM_001370259.2(MEN1):c.655-10C>T rs2136144068
NM_001370259.2(MEN1):c.655-11C>G rs781234614
NM_001370259.2(MEN1):c.655-11C>T rs781234614
NM_001370259.2(MEN1):c.655-12T>C rs2136144144
NM_001370259.2(MEN1):c.655-12dup rs2136144164
NM_001370259.2(MEN1):c.655-15_658del rs1592649598
NM_001370259.2(MEN1):c.655-16C>G
NM_001370259.2(MEN1):c.655-17T>A
NM_001370259.2(MEN1):c.655-19G>A
NM_001370259.2(MEN1):c.655-19_655-17del rs2136144272
NM_001370259.2(MEN1):c.655-1G>A rs1592649615
NM_001370259.2(MEN1):c.655-1G>C rs1592649615
NM_001370259.2(MEN1):c.655-2A>G
NM_001370259.2(MEN1):c.655-5C>A rs752563214
NM_001370259.2(MEN1):c.655-5C>T rs752563214
NM_001370259.2(MEN1):c.655-5del rs772016629
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001370259.2(MEN1):c.655-6_655-4del rs1555165623
NM_001370259.2(MEN1):c.655-7C>A rs771297371
NM_001370259.2(MEN1):c.655-7C>G rs771297371
NM_001370259.2(MEN1):c.655-7C>T rs771297371
NM_001370259.2(MEN1):c.655-7_655-4dup rs2136143779
NM_001370259.2(MEN1):c.655-8C>T rs2136143989
NM_001370259.2(MEN1):c.655-9C>A rs2136144016
NM_001370259.2(MEN1):c.655-9C>T
NM_001370259.2(MEN1):c.655A>G (p.Ser219Gly)
NM_001370259.2(MEN1):c.657C>T (p.Ser219=) rs2059889716
NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter) rs1565647197
NM_001370259.2(MEN1):c.65T>C (p.Leu22Pro) rs104894256
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter) rs886039414
NM_001370259.2(MEN1):c.660G>T (p.Trp220Cys) rs886039414
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro) rs2136143369
NM_001370259.2(MEN1):c.663G>C (p.Leu221=) rs1466764986
NM_001370259.2(MEN1):c.664T>G (p.Tyr222Asp) rs1941830592
NM_001370259.2(MEN1):c.665A>C (p.Tyr222Ser) rs1555165601
NM_001370259.2(MEN1):c.666C>T (p.Tyr222=) rs1555165597
NM_001370259.2(MEN1):c.667C>T (p.Leu223=) rs1592649487
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) rs886039415
NM_001370259.2(MEN1):c.669G>A (p.Leu223=) rs2136143050
NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg) rs1057521110
NM_001370259.2(MEN1):c.675A>T (p.Gly225=)
NM_001370259.2(MEN1):c.676T>G (p.Ser226Ala)
NM_001370259.2(MEN1):c.677C>T (p.Ser226Leu)
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter) rs778921501
NM_001370259.2(MEN1):c.682A>G (p.Met228Val) rs1060499982
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs) rs1114167519
NM_001370259.2(MEN1):c.685C>A (p.Arg229Ser) rs754378887
NM_001370259.2(MEN1):c.685del (p.Arg229fs)
NM_001370259.2(MEN1):c.686G>A (p.Arg229His) rs878855197
NM_001370259.2(MEN1):c.690T>C (p.Cys230=) rs2136142487
NM_001370259.2(MEN1):c.691G>C (p.Asp231His) rs1941827572
NM_001370259.2(MEN1):c.692A>G (p.Asp231Gly)
NM_001370259.2(MEN1):c.693C>T (p.Asp231=)
NM_001370259.2(MEN1):c.694C>T (p.Arg232Cys) rs1225847249
NM_001370259.2(MEN1):c.695G>A (p.Arg232His) rs1941826992
NM_001370259.2(MEN1):c.697A>C (p.Lys233Gln)
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter) rs1114167499
NM_001370259.2(MEN1):c.698A>C (p.Lys233Thr) rs1592649270
NM_001370259.2(MEN1):c.698A>G (p.Lys233Arg)
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer) rs2136197117
NM_001370259.2(MEN1):c.6dup (p.Leu3fs) rs2136197117
NM_001370259.2(MEN1):c.700A>G (p.Met234Val)
NM_001370259.2(MEN1):c.700A>T (p.Met234Leu) rs1296948476
NM_001370259.2(MEN1):c.702G>A (p.Met234Ile) rs1448041546
NM_001370259.2(MEN1):c.706G>A (p.Val236Met)
NM_001370259.2(MEN1):c.706G>T (p.Val236Leu)
NM_001370259.2(MEN1):c.707T>C (p.Val236Ala)
NM_001370259.2(MEN1):c.715A>G (p.Met239Val)
NM_001370259.2(MEN1):c.716T>C (p.Met239Thr) rs1441995061
NM_001370259.2(MEN1):c.719T>C (p.Val240Ala)
NM_001370259.2(MEN1):c.71C>T (p.Ala24Val) rs1328062930
NM_001370259.2(MEN1):c.720G>A (p.Val240=)
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg) rs1592649108
NM_001370259.2(MEN1):c.721T>G (p.Cys241Gly)
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs) rs1592649069
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val) rs2136141530
NM_001370259.2(MEN1):c.733C>G (p.Pro245Ala) rs1373521153
NM_001370259.2(MEN1):c.734del (p.Pro245fs) rs1565646772
NM_001370259.2(MEN1):c.737C>A (p.Ser246Tyr)
NM_001370259.2(MEN1):c.739A>G (p.Ile247Val) rs1555165508
NM_001370259.2(MEN1):c.739_745del (p.Ile247fs) rs1555165503
NM_001370259.2(MEN1):c.739dup (p.Ile247fs) rs2136141104
NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr) rs1043531053
NM_001370259.2(MEN1):c.741T>C (p.Ile247=) rs1592648877
NM_001370259.2(MEN1):c.744C>T (p.Asp248=) rs2136140889
NM_001370259.2(MEN1):c.745C>A (p.Leu249Met) rs2136140837
NM_001370259.2(MEN1):c.746T>A (p.Leu249Gln) rs1824195184
NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs) rs1592648830
NM_001370259.2(MEN1):c.750C>T (p.His250=)
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
NM_001370259.2(MEN1):c.754G>A (p.Asp252Asn) rs770368608
NM_001370259.2(MEN1):c.754G>C (p.Asp252His) rs770368608
NM_001370259.2(MEN1):c.756C>T (p.Asp252=)
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter) rs386134259
NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp) rs386134259
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.758del (p.Ser253fs) rs1592648765
NM_001370259.2(MEN1):c.759G>C (p.Ser253=)
NM_001370259.2(MEN1):c.759G>T (p.Ser253=) rs201829546
NM_001370259.2(MEN1):c.75C>A (p.Ala25=)
NM_001370259.2(MEN1):c.75C>G (p.Ala25=)
NM_001370259.2(MEN1):c.75C>T (p.Ala25=) rs1399788808
NM_001370259.2(MEN1):c.760C>A (p.Leu254Met)
NM_001370259.2(MEN1):c.761T>C (p.Leu254Pro)
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs) rs1555165488
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) rs104894268
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln) rs104894268
NM_001370259.2(MEN1):c.766C>G (p.Leu256Val)
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe) rs878855198
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
NM_001370259.2(MEN1):c.769C>T (p.Leu257=)
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_001370259.2(MEN1):c.770T>C (p.Leu257Pro)
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3]) rs1555165485
NM_001370259.2(MEN1):c.772C>G (p.Gln258Glu) rs886039416
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter) rs886039416
NM_001370259.2(MEN1):c.773A>C (p.Gln258Pro)
NM_001370259.2(MEN1):c.773A>G (p.Gln258Arg)
NM_001370259.2(MEN1):c.777G>A (p.Leu259=) rs2136139885
NM_001370259.2(MEN1):c.778C>G (p.Gln260Glu) rs104894266
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter) rs104894266
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter) rs1057520733
NM_001370259.2(MEN1):c.783+10G>C rs2136139524
NM_001370259.2(MEN1):c.783+16A>G
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.783+1G>C rs794728652
NM_001370259.2(MEN1):c.783+2del
NM_001370259.2(MEN1):c.783+3G>A
NM_001370259.2(MEN1):c.783+5G>T rs1592648530
NM_001370259.2(MEN1):c.783+6G>C
NM_001370259.2(MEN1):c.783+8C>A rs2136139552
NM_001370259.2(MEN1):c.784-10C>A rs71526470
NM_001370259.2(MEN1):c.784-16C>G rs754257177
NM_001370259.2(MEN1):c.784-17_784-14del
NM_001370259.2(MEN1):c.784-18C>G
NM_001370259.2(MEN1):c.784-19TC[2] rs764290037
NM_001370259.2(MEN1):c.784-1G>A rs1555165377
NM_001370259.2(MEN1):c.784-1G>C rs1555165377
NM_001370259.2(MEN1):c.784-2A>T
NM_001370259.2(MEN1):c.784-4C>T
NM_001370259.2(MEN1):c.784-7C>A
NM_001370259.2(MEN1):c.784-7C>G rs1313431495
NM_001370259.2(MEN1):c.784-8G>C
NM_001370259.2(MEN1):c.784-8G>T rs766553550
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.784-9G>C rs794728625
NM_001370259.2(MEN1):c.785A>G (p.Lys262Arg) rs1555165373
NM_001370259.2(MEN1):c.786G>A (p.Lys262=)
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro) rs1114167502
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro) rs1941794175
NM_001370259.2(MEN1):c.792C>G (p.Leu264=) rs2136134213
NM_001370259.2(MEN1):c.792C>T (p.Leu264=) rs2136134213
NM_001370259.2(MEN1):c.792del (p.Trp265fs)
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter) rs2136134076
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter) rs1592647398
NM_001370259.2(MEN1):c.796del (p.Leu266fs)
NM_001370259.2(MEN1):c.79C>G (p.Leu27Val) rs1006536599
NM_001370259.2(MEN1):c.79C>T (p.Leu27=) rs1006536599
NM_001370259.2(MEN1):c.805G>A (p.Asp269Asn) rs878855199
NM_001370259.2(MEN1):c.806A>G (p.Asp269Gly) rs1941793463
NM_001370259.2(MEN1):c.807C>T (p.Asp269=) rs2136133470
NM_001370259.2(MEN1):c.808C>A (p.Leu270Met) rs371556177
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro) rs1592647333
NM_001370259.2(MEN1):c.811G>A (p.Gly271Arg) rs1565645918
NM_001370259.2(MEN1):c.811G>C (p.Gly271Arg)
NM_001370259.2(MEN1):c.812G>C (p.Gly271Ala) rs1941792670
NM_001370259.2(MEN1):c.815A>G (p.His272Arg)
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro) rs1592647281
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
NM_001370259.2(MEN1):c.819G>T (p.Leu273=) rs748369241
NM_001370259.2(MEN1):c.81G>C (p.Leu27=) rs1592660553
NM_001370259.2(MEN1):c.81G>T (p.Leu27=)
NM_001370259.2(MEN1):c.820G>A (p.Glu274Lys) rs1941791593
NM_001370259.2(MEN1):c.823A>G (p.Arg275Gly) rs1592647235
NM_001370259.2(MEN1):c.823del (p.Arg275fs) rs1555165360
NM_001370259.2(MEN1):c.824+10G>A
NM_001370259.2(MEN1):c.824+12del rs2136132270
NM_001370259.2(MEN1):c.824+16T>A
NM_001370259.2(MEN1):c.824+17G>C rs1271023864
NM_001370259.2(MEN1):c.824+18G>A
NM_001370259.2(MEN1):c.824+1G>A rs1060499976
NM_001370259.2(MEN1):c.824+1G>T rs1060499976
NM_001370259.2(MEN1):c.824+2T>C
NM_001370259.2(MEN1):c.824+3C>G rs1941790535
NM_001370259.2(MEN1):c.824+8G>T rs2136132354
NM_001370259.2(MEN1):c.824+9A>C
NM_001370259.2(MEN1):c.824+9A>G rs774166628
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys) rs1187634059
NM_001370259.2(MEN1):c.825-10C>G rs999121619
NM_001370259.2(MEN1):c.825-10C>T
NM_001370259.2(MEN1):c.825-13G>A
NM_001370259.2(MEN1):c.825-13_825-11del
NM_001370259.2(MEN1):c.825-1_825del rs2136130282
NM_001370259.2(MEN1):c.825-4C>A rs2136130374
NM_001370259.2(MEN1):c.825-8T>C rs1555165330
NM_001370259.2(MEN1):c.825-9C>A rs1460138191
NM_001370259.2(MEN1):c.825G>A (p.Arg275=)
NM_001370259.2(MEN1):c.827A>G (p.Tyr276Cys) rs1555165327
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370259.2(MEN1):c.829_830insTAGAGGTTC (p.Tyr276_Pro277insLeuGluVal) rs2136130018
NM_001370259.2(MEN1):c.82G>A (p.Gly28Ser) rs953827589
NM_001370259.2(MEN1):c.82G>C (p.Gly28Arg) rs953827589
NM_001370259.2(MEN1):c.82_83delinsAA (p.Gly28Asn)
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_001370259.2(MEN1):c.830C>T (p.Pro277Leu) rs1060499973
NM_001370259.2(MEN1):c.831C>T (p.Pro277=)
NM_001370259.2(MEN1):c.831del (p.Met278fs) rs2136129908
NM_001370259.2(MEN1):c.832A>G (p.Met278Val) rs1475401656
NM_001370259.2(MEN1):c.833T>G (p.Met278Arg) rs1592646765
NM_001370259.2(MEN1):c.837C>T (p.Ala279=) rs762092675
NM_001370259.2(MEN1):c.837del (p.Ala279_Leu280insTer)
NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter)
NM_001370259.2(MEN1):c.840A>T (p.Leu280Phe)
NM_001370259.2(MEN1):c.842G>A (p.Gly281Glu)
NM_001370259.2(MEN1):c.843G>A (p.Gly281=)
NM_001370259.2(MEN1):c.845A>G (p.Asn282Ser) rs1592646672
NM_001370259.2(MEN1):c.846C>T (p.Asn282=) rs2136129516
NM_001370259.2(MEN1):c.849G>T (p.Leu283=) rs1592646641
NM_001370259.2(MEN1):c.84C>T (p.Gly28=) rs2136194730
NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu) rs1565645563
NM_001370259.2(MEN1):c.852A>G (p.Ala284=) rs2136129359
NM_001370259.2(MEN1):c.854A>C (p.Asp285Ala) rs2136129327
NM_001370259.2(MEN1):c.859G>A (p.Glu287Lys)
NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter) rs2136129231
NM_001370259.2(MEN1):c.85C>A (p.Arg29=) rs794728615
NM_001370259.2(MEN1):c.85C>G (p.Arg29Gly) rs794728615
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) rs794728615
NM_001370259.2(MEN1):c.861G>C (p.Glu287Asp)
NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter)
NM_001370259.2(MEN1):c.864G>A (p.Glu288=) rs769748450
NM_001370259.2(MEN1):c.868G>A (p.Glu290Lys) rs1335117435
NM_001370259.2(MEN1):c.868G>C (p.Glu290Gln) rs1335117435
NM_001370259.2(MEN1):c.869A>C (p.Glu290Ala) rs1213891703
NM_001370259.2(MEN1):c.869A>G (p.Glu290Gly)
NM_001370259.2(MEN1):c.869A>T (p.Glu290Val) rs1213891703
NM_001370259.2(MEN1):c.870G>A (p.Glu290=)
NM_001370259.2(MEN1):c.871C>G (p.Pro291Ala) rs1413160325
NM_001370259.2(MEN1):c.871C>T (p.Pro291Ser)
NM_001370259.2(MEN1):c.872C>G (p.Pro291Arg) rs745857419
NM_001370259.2(MEN1):c.873C>T (p.Pro291=)
NM_001370259.2(MEN1):c.875C>T (p.Thr292Ile) rs780646691
NM_001370259.2(MEN1):c.876C>G (p.Thr292=) rs756782257
NM_001370259.2(MEN1):c.876C>T (p.Thr292=) rs756782257
NM_001370259.2(MEN1):c.877C>G (p.Pro293Ala) rs2136128745
NM_001370259.2(MEN1):c.877C>T (p.Pro293Ser)
NM_001370259.2(MEN1):c.879del (p.Gly294fs)
NM_001370259.2(MEN1):c.87A>C (p.Arg29=) rs1198070818
NM_001370259.2(MEN1):c.880G>A (p.Gly294Ser) rs1565645429
NM_001370259.2(MEN1):c.881G>A (p.Gly294Asp) rs1941778425
NM_001370259.2(MEN1):c.881dup (p.Arg295fs)
NM_001370259.2(MEN1):c.882C>T (p.Gly294=)
NM_001370259.2(MEN1):c.883C>A (p.Arg295=)
NM_001370259.2(MEN1):c.885G>A (p.Arg295=)
NM_001370259.2(MEN1):c.886C>T (p.Pro296Ser) rs1941777494
NM_001370259.2(MEN1):c.88G>A (p.Glu30Lys) rs2136194576
NM_001370259.2(MEN1):c.890A>G (p.Asp297Gly) rs1592646361
NM_001370259.2(MEN1):c.892C>G (p.Pro298Ala) rs1555165268
NM_001370259.2(MEN1):c.893C>T (p.Pro298Leu) rs2136128195
NM_001370259.2(MEN1):c.894A>C (p.Pro298=)
NM_001370259.2(MEN1):c.895C>A (p.Leu299Ile) rs1592646339
NM_001370259.2(MEN1):c.895C>G (p.Leu299Val) rs1592646339
NM_001370259.2(MEN1):c.897C>T (p.Leu299=) rs1409781409
NM_001370259.2(MEN1):c.898A>T (p.Thr300Ser) rs1592646309
NM_001370259.2(MEN1):c.899C>T (p.Thr300Ile) rs1941776482
NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly) rs1942017685
NM_001370259.2(MEN1):c.900C>T (p.Thr300=) rs1592646297
NM_001370259.2(MEN1):c.901C>A (p.Leu301Ile) rs1941775680
NM_001370259.2(MEN1):c.902T>C (p.Leu301Pro) rs2136127925
NM_001370259.2(MEN1):c.903C>G (p.Leu301=) rs1592646283
NM_001370259.2(MEN1):c.903C>T (p.Leu301=) rs1592646283
NM_001370259.2(MEN1):c.906C>T (p.Tyr302=) rs1592646265
NM_001370259.2(MEN1):c.907C>T (p.His303Tyr) rs1941775165
NM_001370259.2(MEN1):c.908A>G (p.His303Arg) rs373805140
NM_001370259.2(MEN1):c.909C>T (p.His303=) rs878855200
NM_001370259.2(MEN1):c.910A>C (p.Lys304Gln)
NM_001370259.2(MEN1):c.910A>G (p.Lys304Glu) rs1941774610
NM_001370259.2(MEN1):c.912+13A>G rs754283643
NM_001370259.2(MEN1):c.912+18G>A
NM_001370259.2(MEN1):c.912+19G>A rs780657282
NM_001370259.2(MEN1):c.912+1G>A rs398124437
NM_001370259.2(MEN1):c.912+1G>C rs398124437
NM_001370259.2(MEN1):c.912+20G>T
NM_001370259.2(MEN1):c.912+2T>A
NM_001370259.2(MEN1):c.912+2T>G rs1555165256
NM_001370259.2(MEN1):c.912+3G>T
NM_001370259.2(MEN1):c.912+5G>A rs1592646185
NM_001370259.2(MEN1):c.912+5G>C rs1592646185
NM_001370259.2(MEN1):c.912+6G>T rs755302991
NM_001370259.2(MEN1):c.912G>A (p.Lys304=) rs1592646211
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn) rs1592646211
NM_001370259.2(MEN1):c.913-10C>T rs2136122123
NM_001370259.2(MEN1):c.913-11C>T rs2136122142
NM_001370259.2(MEN1):c.913-11_913-6dup
NM_001370259.2(MEN1):c.913-12A>C
NM_001370259.2(MEN1):c.913-13C>T rs1309344851
NM_001370259.2(MEN1):c.913-15C>T rs1941734915
NM_001370259.2(MEN1):c.913-15del rs2136122252
NM_001370259.2(MEN1):c.913-16C>T
NM_001370259.2(MEN1):c.913-1G>A rs1057518572
NM_001370259.2(MEN1):c.913-1G>C rs1057518572
NM_001370259.2(MEN1):c.913-2A>G rs1114167498
NM_001370259.2(MEN1):c.913-4C>T rs770413697
NM_001370259.2(MEN1):c.913-5T>C
NM_001370259.2(MEN1):c.913-7C>T rs911501970
NM_001370259.2(MEN1):c.913G>A (p.Gly305Ser) rs1555165146
NM_001370259.2(MEN1):c.914G>A (p.Gly305Asp) rs1592644100
NM_001370259.2(MEN1):c.915C>T (p.Gly305=)
NM_001370259.2(MEN1):c.916A>G (p.Ile306Val)
NM_001370259.2(MEN1):c.91G>A (p.Glu31Lys) rs1942017514
NM_001370259.2(MEN1):c.920C>A (p.Ala307Asp)
NM_001370259.2(MEN1):c.920C>T (p.Ala307Val)
NM_001370259.2(MEN1):c.921C>G (p.Ala307=) rs1060503788
NM_001370259.2(MEN1):c.921C>T (p.Ala307=) rs1060503788
NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter) rs1565644366
NM_001370259.2(MEN1):c.927C>G (p.Ala309=)
NM_001370259.2(MEN1):c.92A>G (p.Glu31Gly) rs1060499977
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val) rs1060499977
NM_001370259.2(MEN1):c.930G>T (p.Lys310Asn) rs1941731256
NM_001370259.2(MEN1):c.932C>T (p.Thr311Ile) rs1565644342
NM_001370259.2(MEN1):c.933C>A (p.Thr311=) rs1592643965
NM_001370259.2(MEN1):c.933C>T (p.Thr311=)
NM_001370259.2(MEN1):c.935A>T (p.Tyr312Phe) rs1592643944
NM_001370259.2(MEN1):c.935_936insTCGGGATGAA (p.Tyr313fs)
NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter) rs386134260
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) rs386134260
NM_001370259.2(MEN1):c.936C>T (p.Tyr312=) rs386134260
NM_001370259.2(MEN1):c.939T>C (p.Tyr313=)
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter) rs1555165128
NM_001370259.2(MEN1):c.940C>G (p.Arg314Gly) rs139936447
NM_001370259.2(MEN1):c.940_1050-227del
NM_001370259.2(MEN1):c.941G>C (p.Arg314Pro)
NM_001370259.2(MEN1):c.941G>T (p.Arg314Leu)
NM_001370259.2(MEN1):c.942G>A (p.Arg314=)
NM_001370259.2(MEN1):c.943G>A (p.Asp315Asn)
NM_001370259.2(MEN1):c.943G>C (p.Asp315His) rs747851909
NM_001370259.2(MEN1):c.943G>T (p.Asp315Tyr) rs747851909
NM_001370259.2(MEN1):c.943del (p.Asp315fs)
NM_001370259.2(MEN1):c.946G>A (p.Glu316Lys) rs780563052
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr) rs2136120898
NM_001370259.2(MEN1):c.952A>G (p.Ile318Val) rs1565644220
NM_001370259.2(MEN1):c.954C>A (p.Ile318=) rs2136120737
NM_001370259.2(MEN1):c.954C>T (p.Ile318=) rs2136120737
NM_001370259.2(MEN1):c.955T>G (p.Tyr319Asp) rs1555165101
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs) rs386134261
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
NM_001370259.2(MEN1):c.958C>G (p.Pro320Ala) rs1941726727
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser) rs1941726727
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) rs1114167469
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)
NM_001370259.2(MEN1):c.95C>T (p.Pro32Leu) rs2136194414
NM_001370259.2(MEN1):c.960C>G (p.Pro320=) rs1592643701
NM_001370259.2(MEN1):c.960dup (p.Tyr321fs)
NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter) rs1555165094
NM_001370259.2(MEN1):c.963C>T (p.Tyr321=) rs1555165094
NM_001370259.2(MEN1):c.964A>G (p.Met322Val) rs1555165089
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu) rs1555165089
NM_001370259.2(MEN1):c.965T>A (p.Met322Lys)
NM_001370259.2(MEN1):c.965T>C (p.Met322Thr) rs1941725569
NM_001370259.2(MEN1):c.965T>G (p.Met322Arg) rs1941725569
NM_001370259.2(MEN1):c.966G>A (p.Met322Ile) rs947594206
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter) rs750904332
NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter) rs750904332
NM_001370259.2(MEN1):c.969C>T (p.Tyr323=)
NM_001370259.2(MEN1):c.96G>A (p.Pro32=) rs1268807885
NM_001370259.2(MEN1):c.970C>A (p.Leu324Met)
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del) rs1941723156
NM_001370259.2(MEN1):c.970del (p.Leu324fs) rs1114167508
NM_001370259.2(MEN1):c.972G>A (p.Leu324=) rs1592643568
NM_001370259.2(MEN1):c.972G>C (p.Leu324=) rs1592643568
NM_001370259.2(MEN1):c.973G>A (p.Ala325Thr)
NM_001370259.2(MEN1):c.974C>A (p.Ala325Asp) rs370840265
NM_001370259.2(MEN1):c.978C>T (p.Gly326=) rs1555165071
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter) rs1592643488
NM_001370259.2(MEN1):c.981C>T (p.Tyr327=) rs1592643488
NM_001370259.2(MEN1):c.982C>A (p.His328Asn) rs794727882
NM_001370259.2(MEN1):c.982C>G (p.His328Asp) rs794727882
NM_001370259.2(MEN1):c.982C>T (p.His328Tyr) rs794727882
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
NM_001370259.2(MEN1):c.988C>G (p.Arg330Gly) rs1565644005
NM_001370259.2(MEN1):c.989G>C (p.Arg330Pro) rs373135175
NM_001370259.2(MEN1):c.989G>T (p.Arg330Leu) rs373135175
NM_001370259.2(MEN1):c.990C>G (p.Arg330=)
NM_001370259.2(MEN1):c.990C>T (p.Arg330=) rs1359880787
NM_001370259.2(MEN1):c.994C>T (p.Arg332Cys) rs1941721650
NM_001370259.2(MEN1):c.995G>A (p.Arg332His) rs2136119513
NM_001370259.2(MEN1):c.995G>T (p.Arg332Leu)
NM_001370259.2(MEN1):c.996C>T (p.Arg332=) rs2136119464
NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu)
NM_001370259.2(MEN1):c.99C>T (p.Asp33=)
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala) rs121913228
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu) rs140749796
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) rs587777021
NM_002067.5(GNA11):c.179G>T (p.Arg60Leu) rs587777707
NM_002067.5(GNA11):c.322-10G>A rs368874580
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) rs587777020
NM_002067.5(GNA11):c.632C>G (p.Ser211Trp) rs587777022
NM_002067.5(GNA11):c.889+5G>A rs768590899
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr) rs137985549
NM_004752.3(GCM2):c.-74C>T rs2153156
NM_004752.3(GCM2):c.[1136T>A;751C>G]
NM_004752.4(GCM2):c.*521C>A rs6936637
NM_004752.4(GCM2):c.*521C>T rs6936637
NM_004752.4(GCM2):c.*611T>C rs886060979
NM_004752.4(GCM2):c.*726dup rs567863142
NM_004752.4(GCM2):c.-74C>A rs2153156
NM_004752.4(GCM2):c.1003C>T (p.Pro335Ser)
NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr) rs2113243235
NM_004752.4(GCM2):c.1162A>G (p.Lys388Glu) rs759712994
NM_004752.4(GCM2):c.1166T>C (p.Val389Ala)
NM_004752.4(GCM2):c.1177_1185dup (p.Ala393_Gln395dup) rs551375300
NM_004752.4(GCM2):c.129C>G (p.Asp43Glu) rs141188465
NM_004752.4(GCM2):c.1389del (p.His465fs) rs2113242520
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_004752.4(GCM2):c.139C>T (p.Arg47Cys)
NM_004752.4(GCM2):c.1400del (p.Pro467fs) rs2113242469
NM_004752.4(GCM2):c.140G>T (p.Arg47Leu) rs104893959
NM_004752.4(GCM2):c.1431T>A (p.Thr477=) rs780587572
NM_004752.4(GCM2):c.199C>G (p.Arg67Gly)
NM_004752.4(GCM2):c.1A>G (p.Met1Val) rs2113257238
NM_004752.4(GCM2):c.22G>T (p.Glu8Ter)
NM_004752.4(GCM2):c.265C>G (p.Gln89Glu) rs886060981
NM_004752.4(GCM2):c.301C>G (p.Leu101Val)
NM_004752.4(GCM2):c.307C>T (p.Pro103Ser) rs1561672362
NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter) rs1554103179
NM_004752.4(GCM2):c.513AAG[1] (p.Arg172del)
NM_004752.4(GCM2):c.523A>T (p.Ile175Phe)
NM_004752.4(GCM2):c.60C>A (p.Ser20Arg)
NM_004752.4(GCM2):c.71A>C (p.Asn24Thr) rs1379979224
NM_004752.4(GCM2):c.783C>T (p.Tyr261=) rs534221748
NM_004752.4(GCM2):c.853del (p.Ser285fs)
NM_004752.4(GCM2):c.893del (p.Ile298fs) rs886037646
NM_004752.4(GCM2):c.90+2T>G
NM_004752.4(GCM2):c.961G>A (p.Glu321Lys) rs886060980
NM_005343.4(HRAS):c.278T>C (p.Ile93Thr) rs2133989896
NM_016592.5(GNAS):c.175C>T (p.Gln59Ter)
NM_016592.5(GNAS):c.34C>T (p.Arg12Ter)
NM_016592.5(GNAS):c.536C>T (p.Pro179Leu)
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys)
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp) rs202131370
NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg) rs1327315227
NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn) rs745903672
NM_018646.6(TRPV6):c.1969G>A (p.Gly657Arg)
NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg) rs780306040
NM_018646.6(TRPV6):c.254G>A (p.Trp85Ter)
NM_018646.6(TRPV6):c.524C>T (p.Ala175Val) rs1795093724
NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) rs766719790
NM_018646.6(TRPV6):c.607+5G>A rs1200458339
NM_018646.6(TRPV6):c.614A>G (p.His205Arg)
NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr) rs1586190048
NM_018646.6(TRPV6):c.713C>G (p.Thr238Arg) rs1795077287
NM_018646.6(TRPV6):c.715_724del (p.Val239fs)
NM_018646.6(TRPV6):c.970G>A (p.Asp324Asn)
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_024529.5(CDC73):c.*1056A>C rs548106852
NM_024529.5(CDC73):c.*1075A>G rs886045719
NM_024529.5(CDC73):c.*1144del rs538761780
NM_024529.5(CDC73):c.*1144dup rs538761780
NM_024529.5(CDC73):c.*1296C>G rs1269411417
NM_024529.5(CDC73):c.*1303A>G rs886045723
NM_024529.5(CDC73):c.*1442C>T rs1678053550
NM_024529.5(CDC73):c.*1821G>T rs1678060916
NM_024529.5(CDC73):c.*1858C>G rs886045724
NM_024529.5(CDC73):c.*1956T>C rs886045725
NM_024529.5(CDC73):c.*2043A>T rs886045727
NM_024529.5(CDC73):c.*2131A>T rs886045728
NM_024529.5(CDC73):c.*244T>A rs1678034707
NM_024529.5(CDC73):c.*2639C>G rs1361287206
NM_024529.5(CDC73):c.*3086C>T rs886045733
NM_024529.5(CDC73):c.*3257A>G rs886045734
NM_024529.5(CDC73):c.*3409_*3410del rs886045735
NM_024529.5(CDC73):c.*3542A>G rs886045736
NM_024529.5(CDC73):c.*3641G>A rs565579791
NM_024529.5(CDC73):c.*3695C>G rs1678098304
NM_024529.5(CDC73):c.*3786T>A rs74130943
NM_024529.5(CDC73):c.*3786T>C rs74130943
NM_024529.5(CDC73):c.*3808TTG[1] rs143131672
NM_024529.5(CDC73):c.*3887G>T rs1678101144
NM_024529.5(CDC73):c.*937G>A rs886045715
NM_024529.5(CDC73):c.*94A>G rs547969893
NM_024529.5(CDC73):c.*956T>C rs886045716
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs) rs1677132309
NM_024529.5(CDC73):c.1003C>A (p.Pro335Thr) rs779180488
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser) rs779180488
NM_024529.5(CDC73):c.1004C>G (p.Pro335Arg) rs1476163101
NM_024529.5(CDC73):c.1004C>T (p.Pro335Leu)
NM_024529.5(CDC73):c.1005T>A (p.Pro335=) rs2103178081
NM_024529.5(CDC73):c.1006G>T (p.Ala336Ser) rs2103178083
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.100A>C (p.Lys34Gln)
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) rs2103178097
NM_024529.5(CDC73):c.1013A>C (p.Gln338Pro) rs993696396
NM_024529.5(CDC73):c.1015C>A (p.Pro339Thr)
NM_024529.5(CDC73):c.1016C>A (p.Pro339Gln)
NM_024529.5(CDC73):c.1016C>G (p.Pro339Arg) rs1060500018
NM_024529.5(CDC73):c.1016C>T (p.Pro339Leu) rs1060500018
NM_024529.5(CDC73):c.1017A>G (p.Pro339=)
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.1020A>G (p.Val340=)
NM_024529.5(CDC73):c.1021C>A (p.Pro341Thr)
NM_024529.5(CDC73):c.1021C>T (p.Pro341Ser) rs1572196474
NM_024529.5(CDC73):c.1023A>G (p.Pro341=) rs2103178122
NM_024529.5(CDC73):c.1026A>G (p.Arg342=) rs770903733
NM_024529.5(CDC73):c.102G>A (p.Lys34=)
NM_024529.5(CDC73):c.102G>C (p.Lys34Asn)
NM_024529.5(CDC73):c.1030+10_1030+11del
NM_024529.5(CDC73):c.1030+12G>A rs1227935949
NM_024529.5(CDC73):c.1030+12G>T rs1227935949
NM_024529.5(CDC73):c.1030+14A>C
NM_024529.5(CDC73):c.1030+14A>T
NM_024529.5(CDC73):c.1030+19G>A
NM_024529.5(CDC73):c.1030+19del rs2103178144
NM_024529.5(CDC73):c.1030+2T>C
NM_024529.5(CDC73):c.1030+4G>T
NM_024529.5(CDC73):c.1030+7A>C
NM_024529.5(CDC73):c.1030+8T>G rs1035535558
NM_024529.5(CDC73):c.1030+9A>G
NM_024529.5(CDC73):c.1030+9_1030+10insC rs2103178136
NM_024529.5(CDC73):c.1031-10T>A rs370349805
NM_024529.5(CDC73):c.1031-10T>G rs370349805
NM_024529.5(CDC73):c.1031-11_1031-10del
NM_024529.5(CDC73):c.1031-12del rs751580604
NM_024529.5(CDC73):c.1031-12dup rs751580604
NM_024529.5(CDC73):c.1031-19T>C
NM_024529.5(CDC73):c.1031-7T>C rs781077021
NM_024529.5(CDC73):c.1032T>C (p.Val344=) rs148612206
NM_024529.5(CDC73):c.1038A>G (p.Gln346=)
NM_024529.5(CDC73):c.1038A>T (p.Gln346His) rs2102038062
NM_024529.5(CDC73):c.1039G>T (p.Ala347Ser) rs1553288361
NM_024529.5(CDC73):c.1040C>T (p.Ala347Val) rs1677289364
NM_024529.5(CDC73):c.1041A>G (p.Ala347=) rs2102038069
NM_024529.5(CDC73):c.1045C>A (p.Pro349Thr)
NM_024529.5(CDC73):c.1048C>T (p.Pro350Ser) rs773264613
NM_024529.5(CDC73):c.1049C>T (p.Pro350Leu) rs2102038095
NM_024529.5(CDC73):c.104A>G (p.Asn35Ser)
NM_024529.5(CDC73):c.1052C>T (p.Pro351Leu) rs1677289653
NM_024529.5(CDC73):c.1052del (p.Pro351fs) rs1553288362
NM_024529.5(CDC73):c.1054A>C (p.Asn352His) rs1677289702
NM_024529.5(CDC73):c.1054A>G (p.Asn352Asp)
NM_024529.5(CDC73):c.1055A>G (p.Asn352Ser) rs1677289748
NM_024529.5(CDC73):c.1055del (p.Asn352fs)
NM_024529.5(CDC73):c.1065A>C (p.Lys355Asn) rs1677289784
NM_024529.5(CDC73):c.1066+11G>A
NM_024529.5(CDC73):c.1066+13A>C
NM_024529.5(CDC73):c.1066+19T>C
NM_024529.5(CDC73):c.1066+3G>A rs2102038126
NM_024529.5(CDC73):c.1066+6G>T rs1677289869
NM_024529.5(CDC73):c.1066+9G>A rs2102038137
NM_024529.5(CDC73):c.1067-18T>A
NM_024529.5(CDC73):c.1067-2_1069del rs2102038469
NM_024529.5(CDC73):c.1067-3T>A rs1572202351
NM_024529.5(CDC73):c.1067-8C>G rs780485546
NM_024529.5(CDC73):c.1067-9T>A rs1253333879
NM_024529.5(CDC73):c.1067G>T (p.Gly356Val) rs2102038477
NM_024529.5(CDC73):c.1069T>C (p.Ser357Pro)
NM_024529.5(CDC73):c.1070C>G (p.Ser357Cys) rs2102038479
NM_024529.5(CDC73):c.1075A>G (p.Thr359Ala) rs1060500010
NM_024529.5(CDC73):c.1077A>G (p.Thr359=) rs746991059
NM_024529.5(CDC73):c.1077A>T (p.Thr359=) rs746991059
NM_024529.5(CDC73):c.1078C>T (p.Pro360Ser) rs770734388
NM_024529.5(CDC73):c.1079C>G (p.Pro360Arg)
NM_024529.5(CDC73):c.1079C>T (p.Pro360Leu) rs1677295002
NM_024529.5(CDC73):c.1080C>T (p.Pro360=) rs1211967086
NM_024529.5(CDC73):c.1087A>G (p.Ile363Val) rs2102038517
NM_024529.5(CDC73):c.1092T>A (p.Ile364=)
NM_024529.5(CDC73):c.1095T>A (p.Pro365=)
NM_024529.5(CDC73):c.1096G>A (p.Ala366Thr) rs2102038531
NM_024529.5(CDC73):c.1098A>G (p.Ala366=) rs775127570
NM_024529.5(CDC73):c.10G>C (p.Val4Leu) rs1675463101
NM_024529.5(CDC73):c.10del (p.Val4fs) rs2103111548
NM_024529.5(CDC73):c.1100C>G (p.Ala367Gly)
NM_024529.5(CDC73):c.1102A>G (p.Thr368Ala)
NM_024529.5(CDC73):c.1102A>T (p.Thr368Ser) rs1358233620
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile) rs2102038553
NM_024529.5(CDC73):c.1104C>T (p.Thr368=) rs2102038555
NM_024529.5(CDC73):c.110A>G (p.Lys37Arg) rs890428520
NM_024529.5(CDC73):c.1112T>C (p.Leu371Ser) rs2102038560
NM_024529.5(CDC73):c.1114A>C (p.Ile372Leu)
NM_024529.5(CDC73):c.1119C>T (p.Thr373=) rs1015188625
NM_024529.5(CDC73):c.111G>C (p.Lys37Asn) rs1355286253
NM_024529.5(CDC73):c.1120A>G (p.Met374Val) rs2102038567
NM_024529.5(CDC73):c.1129G>A (p.Ala377Thr) rs1677295843
NM_024529.5(CDC73):c.1129G>C (p.Ala377Pro)
NM_024529.5(CDC73):c.1130C>T (p.Ala377Val)
NM_024529.5(CDC73):c.1131A>T (p.Ala377=)
NM_024529.5(CDC73):c.1132A>G (p.Lys378Glu) rs1677295923
NM_024529.5(CDC73):c.1138C>T (p.Leu380Phe)
NM_024529.5(CDC73):c.1143A>G (p.Leu381=) rs1384414870
NM_024529.5(CDC73):c.1147G>C (p.Asp383His)
NM_024529.5(CDC73):c.1149C>G (p.Asp383Glu)
NM_024529.5(CDC73):c.114C>T (p.Thr38=)
NM_024529.5(CDC73):c.1150C>G (p.Leu384Val) rs377215814
NM_024529.5(CDC73):c.1154+13T>C
NM_024529.5(CDC73):c.1154+14T>C rs2102038628
NM_024529.5(CDC73):c.1154+19T>G rs2102038640
NM_024529.5(CDC73):c.1154+7A>C
NM_024529.5(CDC73):c.1154+7A>G
NM_024529.5(CDC73):c.1154+8A>G rs2102038618
NM_024529.5(CDC73):c.1154+9T>G
NM_024529.5(CDC73):c.1155-10T>G
NM_024529.5(CDC73):c.1155-12G>A rs2102058222
NM_024529.5(CDC73):c.1155-12G>C
NM_024529.5(CDC73):c.1155-14C>G
NM_024529.5(CDC73):c.1155-14C>T rs377158112
NM_024529.5(CDC73):c.1155-14_1155-13del
NM_024529.5(CDC73):c.1155-17T>G
NM_024529.5(CDC73):c.1155-19C>T
NM_024529.5(CDC73):c.1155-3A>G rs1060500014
NM_024529.5(CDC73):c.1155-5C>T
NM_024529.5(CDC73):c.1155-6dup
NM_024529.5(CDC73):c.1155-8T>C rs2102058227
NM_024529.5(CDC73):c.1155A>G (p.Lys385=) rs1572215260
NM_024529.5(CDC73):c.1159G>A (p.Val387Ile)
NM_024529.5(CDC73):c.1161C>T (p.Val387=) rs1572215263
NM_024529.5(CDC73):c.1162C>G (p.Pro388Ala) rs1470371131
NM_024529.5(CDC73):c.1162C>T (p.Pro388Ser)
NM_024529.5(CDC73):c.1163C>T (p.Pro388Leu) rs2102058240
NM_024529.5(CDC73):c.1164A>G (p.Pro388=) rs1572215267
NM_024529.5(CDC73):c.1165T>A (p.Ser389Thr) rs1677687458
NM_024529.5(CDC73):c.1168G>C (p.Asp390His) rs1677687568
NM_024529.5(CDC73):c.1171G>A (p.Glu391Lys) rs2102058252
NM_024529.5(CDC73):c.1174_1178del (p.Lys392fs)
NM_024529.5(CDC73):c.1176G>A (p.Lys392=) rs767993995
NM_024529.5(CDC73):c.1176G>C (p.Lys392Asn) rs767993995
NM_024529.5(CDC73):c.1176GAA[1] (p.Lys394del) rs1677687636
NM_024529.5(CDC73):c.1182A>G (p.Lys394=) rs2102058268
NM_024529.5(CDC73):c.1184A>T (p.Gln395Leu) rs374856513
NM_024529.5(CDC73):c.1186G>A (p.Gly396Ser) rs866793539
NM_024529.5(CDC73):c.1187G>A (p.Gly396Asp)
NM_024529.5(CDC73):c.1187G>T (p.Gly396Val)
NM_024529.5(CDC73):c.1188T>C (p.Gly396=) rs1205766785
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
NM_024529.5(CDC73):c.1193A>G (p.Gln398Arg) rs878855088
NM_024529.5(CDC73):c.1193A>T (p.Gln398Leu) rs878855088
NM_024529.5(CDC73):c.1195C>G (p.Arg399Gly) rs1677688362
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.1196G>A (p.Arg399Gln)
NM_024529.5(CDC73):c.119A>G (p.Tyr40Cys) rs1019931450
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
NM_024529.5(CDC73):c.1202_1207del (p.Asn401_Glu402del)
NM_024529.5(CDC73):c.1208C>T (p.Thr403Ile) rs1677688538
NM_024529.5(CDC73):c.1212A>G (p.Leu404=) rs552978336
NM_024529.5(CDC73):c.121G>C (p.Val41Leu)
NM_024529.5(CDC73):c.121GTT[1] (p.Val42del) rs2103111771
NM_024529.5(CDC73):c.1220G>A (p.Arg407Lys) rs1572215316
NM_024529.5(CDC73):c.1222A>G (p.Arg408Gly) rs1677688718
NM_024529.5(CDC73):c.1225A>C (p.Lys409Gln)
NM_024529.5(CDC73):c.1232A>C (p.Gln411Pro) rs1242516197
NM_024529.5(CDC73):c.1233G>A (p.Gln411=)
NM_024529.5(CDC73):c.1234A>C (p.Met412Leu) rs752959843
NM_024529.5(CDC73):c.1234A>T (p.Met412Leu) rs752959843
NM_024529.5(CDC73):c.1236dup (p.Gln413fs)
NM_024529.5(CDC73):c.1237C>G (p.Gln413Glu) rs1553291031
NM_024529.5(CDC73):c.1238A>C (p.Gln413Pro)
NM_024529.5(CDC73):c.1239A>G (p.Gln413=) rs1677689666
NM_024529.5(CDC73):c.1240C>T (p.Pro414Ser) rs1297552782
NM_024529.5(CDC73):c.1241C>T (p.Pro414Leu)
NM_024529.5(CDC73):c.1246G>C (p.Gly416Arg) rs2102058377
NM_024529.5(CDC73):c.1247G>C (p.Gly416Ala) rs1553291033
NM_024529.5(CDC73):c.1247del (p.Gly416fs) rs1572215344
NM_024529.5(CDC73):c.1248C>G (p.Gly416=)
NM_024529.5(CDC73):c.1249A>C (p.Thr417Pro) rs1572215351
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala) rs1572215351
NM_024529.5(CDC73):c.1251T>C (p.Thr417=)
NM_024529.5(CDC73):c.1252G>A (p.Ala418Thr)
NM_024529.5(CDC73):c.1257T>C (p.Ile419=)
NM_024529.5(CDC73):c.1266A>G (p.Thr422=) rs1553291034
NM_024529.5(CDC73):c.1269A>T (p.Val423=) rs745826358
NM_024529.5(CDC73):c.126T>C (p.Val42=) rs1675466558
NM_024529.5(CDC73):c.1274A>G (p.Tyr425Cys) rs1677690233
NM_024529.5(CDC73):c.1275T>C (p.Tyr425=)
NM_024529.5(CDC73):c.1276A>G (p.Arg426Gly) rs2102058411
NM_024529.5(CDC73):c.1278A>G (p.Arg426=) rs1677690277
NM_024529.5(CDC73):c.1279G>A (p.Val427Ile) rs2102058420
NM_024529.5(CDC73):c.127dup (p.Trp43fs)
NM_024529.5(CDC73):c.1282G>A (p.Val428Ile)
NM_024529.5(CDC73):c.1283T>C (p.Val428Ala)
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.5(CDC73):c.1290G>A (p.Gln430=) rs1336120271
NM_024529.5(CDC73):c.1293C>A (p.Pro431=)
NM_024529.5(CDC73):c.1294C>T (p.Leu432Phe) rs2102058450
NM_024529.5(CDC73):c.1296T>G (p.Leu432=) rs2102058457
NM_024529.5(CDC73):c.12G>C (p.Val4=) rs2103111556
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs) rs1558276082
NM_024529.5(CDC73):c.1302T>C (p.Leu434=)
NM_024529.5(CDC73):c.1303A>G (p.Met435Val)
NM_024529.5(CDC73):c.1307C>G (p.Pro436Arg) rs1344996460
NM_024529.5(CDC73):c.1307C>T (p.Pro436Leu) rs1344996460
NM_024529.5(CDC73):c.1308T>G (p.Pro436=) rs991835494
NM_024529.5(CDC73):c.131+11_131+12delinsAC
NM_024529.5(CDC73):c.131+13T>C
NM_024529.5(CDC73):c.131+15G>T
NM_024529.5(CDC73):c.131+16C>A
NM_024529.5(CDC73):c.131+16C>T
NM_024529.5(CDC73):c.131+17dup rs2103111814
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.131+1G>T rs587776558
NM_024529.5(CDC73):c.131+1del
NM_024529.5(CDC73):c.131+7C>T rs1572139906
NM_024529.5(CDC73):c.131+8C>A rs1675466806
NM_024529.5(CDC73):c.131+8C>G rs1675466806
NM_024529.5(CDC73):c.131+8C>T rs1675466806
NM_024529.5(CDC73):c.131+9G>T rs780780877
NM_024529.5(CDC73):c.1310A>T (p.Gln437Leu) rs2102058489
NM_024529.5(CDC73):c.1313A>T (p.Asp438Val)
NM_024529.5(CDC73):c.1314C>T (p.Asp438=)
NM_024529.5(CDC73):c.1316+11C>G
NM_024529.5(CDC73):c.1316+11C>T rs917463973
NM_024529.5(CDC73):c.1316+13C>A rs2102058509
NM_024529.5(CDC73):c.1316+13C>G rs2102058509
NM_024529.5(CDC73):c.1316+14T>C
NM_024529.5(CDC73):c.1316+14TA[6] rs747940099
NM_024529.5(CDC73):c.1316+14del
NM_024529.5(CDC73):c.1316+15A>G rs372909512
NM_024529.5(CDC73):c.1316+17A>G
NM_024529.5(CDC73):c.1316+18T>A
NM_024529.5(CDC73):c.1316+18del
NM_024529.5(CDC73):c.1316+19A>G
NM_024529.5(CDC73):c.1316+1del rs2102058495
NM_024529.5(CDC73):c.1316+20_1316+22del rs2102058536
NM_024529.5(CDC73):c.1316+4A>G rs2102058500
NM_024529.5(CDC73):c.1316+6A>T rs2102058502
NM_024529.5(CDC73):c.1316+8A>G rs1572215403
NM_024529.5(CDC73):c.1317-10C>G rs2102061741
NM_024529.5(CDC73):c.1317-16A>G
NM_024529.5(CDC73):c.1317-17C>T
NM_024529.5(CDC73):c.1317-20A>G rs767329060
NM_024529.5(CDC73):c.1317-3T>C
NM_024529.5(CDC73):c.1317-7C>T rs1677755980
NM_024529.5(CDC73):c.131G>T (p.Gly44Val)
NM_024529.5(CDC73):c.132-12del
NM_024529.5(CDC73):c.132-13T>A rs935384550
NM_024529.5(CDC73):c.132-13T>G rs935384550
NM_024529.5(CDC73):c.132-14_132-13insAATT rs530110098
NM_024529.5(CDC73):c.132-15C>T rs2103113865
NM_024529.5(CDC73):c.132-16G>C
NM_024529.5(CDC73):c.132-17T>G rs2103113863
NM_024529.5(CDC73):c.132-18T>C rs1572142481
NM_024529.5(CDC73):c.132-19C>G
NM_024529.5(CDC73):c.132-20del rs2103113858
NM_024529.5(CDC73):c.132-2A>C
NM_024529.5(CDC73):c.132-2A>G rs1057519419
NM_024529.5(CDC73):c.132-7A>G
NM_024529.5(CDC73):c.1321C>G (p.Arg441Gly)
NM_024529.5(CDC73):c.1321C>T (p.Arg441Cys)
NM_024529.5(CDC73):c.1322G>A (p.Arg441His) rs778432682
NM_024529.5(CDC73):c.1323C>T (p.Arg441=) rs747780211
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) rs1677756402
NM_024529.5(CDC73):c.1328T>G (p.Val443Gly)
NM_024529.5(CDC73):c.1329A>G (p.Val443=)
NM_024529.5(CDC73):c.1330G>A (p.Ala444Thr)
NM_024529.5(CDC73):c.1332C>G (p.Ala444=) rs1060503808
NM_024529.5(CDC73):c.1332C>T (p.Ala444=) rs1060503808
NM_024529.5(CDC73):c.1336T>C (p.Phe446Leu)
NM_024529.5(CDC73):c.1338T>C (p.Phe446=) rs2102061810
NM_024529.5(CDC73):c.1339G>A (p.Val447Met)
NM_024529.5(CDC73):c.1341G>A (p.Val447=) rs771409544
NM_024529.5(CDC73):c.1344G>T (p.Gln448His)
NM_024529.5(CDC73):c.1350T>C (p.Pro450=) rs2102061831
NM_024529.5(CDC73):c.1353A>G (p.Ala451=) rs1677756910
NM_024529.5(CDC73):c.1364A>G (p.Lys455Arg) rs1444457760
NM_024529.5(CDC73):c.1368T>C (p.Gly456=) rs1553291416
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter)
NM_024529.5(CDC73):c.1378C>T (p.Leu460Phe)
NM_024529.5(CDC73):c.1381T>G (p.Leu461Val)
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.5(CDC73):c.1385C>G (p.Pro462Arg) rs1572217735
NM_024529.5(CDC73):c.1387G>A (p.Asp463Asn)
NM_024529.5(CDC73):c.1389T>C (p.Asp463=) rs2102061880
NM_024529.5(CDC73):c.138A>G (p.Gly46=)
NM_024529.5(CDC73):c.1396C>A (p.Pro466Thr)
NM_024529.5(CDC73):c.1397del (p.Pro466fs) rs2102061886
NM_024529.5(CDC73):c.1399G>A (p.Val467Ile)
NM_024529.5(CDC73):c.13C>T (p.Leu5Phe) rs1296841626
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.5(CDC73):c.1402G>T (p.Asp468Tyr) rs1677757493
NM_024529.5(CDC73):c.1405dup (p.Ile469fs) rs1677757559
NM_024529.5(CDC73):c.1406T>C (p.Ile469Thr) rs1677757603
NM_024529.5(CDC73):c.1410T>C (p.Phe470=) rs2102061903
NM_024529.5(CDC73):c.1414A>G (p.Lys472Glu) rs1677757689
NM_024529.5(CDC73):c.1417+14T>C
NM_024529.5(CDC73):c.1417+14del
NM_024529.5(CDC73):c.1417+15G>A
NM_024529.5(CDC73):c.1417+20T>A
NM_024529.5(CDC73):c.1417+20_1417+23del
NM_024529.5(CDC73):c.1417+5G>T rs2102061922
NM_024529.5(CDC73):c.1417+8T>C
NM_024529.5(CDC73):c.1417dup (p.Ile473fs) rs2102061912
NM_024529.5(CDC73):c.1418-10C>A rs768713729
NM_024529.5(CDC73):c.1418-10C>T rs768713729
NM_024529.5(CDC73):c.1418-10CT[2] rs1572226215
NM_024529.5(CDC73):c.1418-11C>G rs1328380226
NM_024529.5(CDC73):c.1418-11C>T
NM_024529.5(CDC73):c.1418-12C>T rs2102073203
NM_024529.5(CDC73):c.1418-14C>T
NM_024529.5(CDC73):c.1418-15C>T
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.1418-17C>T rs11583414
NM_024529.5(CDC73):c.1418-3T>C rs1678015232
NM_024529.5(CDC73):c.1418-6C>G rs1678015138
NM_024529.5(CDC73):c.1418-7T>C rs2102073224
NM_024529.5(CDC73):c.1418-8C>T rs2102073220
NM_024529.5(CDC73):c.1422A>G (p.Lys474=)
NM_024529.5(CDC73):c.1425C>T (p.Ala475=) rs1572226219
NM_024529.5(CDC73):c.1431T>C (p.His477=) rs2102073261
NM_024529.5(CDC73):c.1432C>G (p.Leu478Val) rs1060500025
NM_024529.5(CDC73):c.1438T>G (p.Tyr480Asp) rs1553292962
NM_024529.5(CDC73):c.1440T>C (p.Tyr480=)
NM_024529.5(CDC73):c.1441G>T (p.Asp481Tyr) rs1678015613
NM_024529.5(CDC73):c.1443T>C (p.Asp481=)
NM_024529.5(CDC73):c.1444G>A (p.Glu482Lys) rs2102073303
NM_024529.5(CDC73):c.144A>C (p.Glu48Asp) rs2103113897
NM_024529.5(CDC73):c.144A>G (p.Glu48=) rs2103113897
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
NM_024529.5(CDC73):c.1453C>T (p.Leu485=) rs761968225
NM_024529.5(CDC73):c.1455G>T (p.Leu485=)
NM_024529.5(CDC73):c.145G>T (p.Gly49Cys) rs200806263
NM_024529.5(CDC73):c.1460C>T (p.Pro487Leu) rs1678015855
NM_024529.5(CDC73):c.1462A>C (p.Asn488His)
NM_024529.5(CDC73):c.1463A>G (p.Asn488Ser)
NM_024529.5(CDC73):c.1465G>C (p.Val489Leu) rs2102073378
NM_024529.5(CDC73):c.1469A>G (p.Gln490Arg) rs2102073385
NM_024529.5(CDC73):c.1470G>C (p.Gln490His)
NM_024529.5(CDC73):c.1471A>G (p.Lys491Glu) rs2102073386
NM_024529.5(CDC73):c.1472A>T (p.Lys491Ile) rs2102073388
NM_024529.5(CDC73):c.1476G>C (p.Trp492Cys) rs2102073392
NM_024529.5(CDC73):c.1479T>C (p.Asp493=)
NM_024529.5(CDC73):c.147C>T (p.Gly49=) rs1310600802
NM_024529.5(CDC73):c.1480G>A (p.Val494Ile) rs1199025166
NM_024529.5(CDC73):c.1482A>G (p.Val494=) rs1286819904
NM_024529.5(CDC73):c.1483A>G (p.Thr495Ala) rs1558326136
NM_024529.5(CDC73):c.1485A>G (p.Thr495=) rs2102073429
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
NM_024529.5(CDC73):c.1488A>G (p.Val496=) rs2102073439
NM_024529.5(CDC73):c.148C>G (p.Gln50Glu) rs2103113904
NM_024529.5(CDC73):c.1491A>G (p.Leu497=) rs1448322761
NM_024529.5(CDC73):c.149A>G (p.Gln50Arg) rs1276311364
NM_024529.5(CDC73):c.1501T>C (p.Tyr501His) rs1553292970
NM_024529.5(CDC73):c.1503T>C (p.Tyr501=)
NM_024529.5(CDC73):c.1506C>T (p.His502=) rs2102073494
NM_024529.5(CDC73):c.1509A>G (p.Lys503=) rs2102073498
NM_024529.5(CDC73):c.1510C>T (p.Arg504Cys) rs1292596060
NM_024529.5(CDC73):c.1513C>T (p.His505Tyr) rs1558326147
NM_024529.5(CDC73):c.1519G>T (p.Asp507Tyr) rs1678017026
NM_024529.5(CDC73):c.151C>T (p.Pro51Ser) rs540541696
NM_024529.5(CDC73):c.1520A>T (p.Asp507Val) rs2102073531
NM_024529.5(CDC73):c.1521T>C (p.Asp507=) rs1476554322
NM_024529.5(CDC73):c.1525C>T (p.Pro509Ser)
NM_024529.5(CDC73):c.1527A>G (p.Pro509=) rs765271361
NM_024529.5(CDC73):c.1528G>A (p.Val510Met)
NM_024529.5(CDC73):c.1528G>C (p.Val510Leu)
NM_024529.5(CDC73):c.1529T>C (p.Val510Ala) rs2102073560
NM_024529.5(CDC73):c.1536A>G (p.Leu512=)
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.1550C>A (p.Thr517Lys)
NM_024529.5(CDC73):c.1550C>T (p.Thr517Ile) rs1678017409
NM_024529.5(CDC73):c.1558A>C (p.Arg520=)
NM_024529.5(CDC73):c.1558A>G (p.Arg520Gly) rs1553292974
NM_024529.5(CDC73):c.1559+10del rs767962310
NM_024529.5(CDC73):c.1559+13C>G
NM_024529.5(CDC73):c.1559+16A>G rs2102073684
NM_024529.5(CDC73):c.1559+18A>C rs988361827
NM_024529.5(CDC73):c.1559+4A>T rs1001095861
NM_024529.5(CDC73):c.1559+8C>T rs751279026
NM_024529.5(CDC73):c.1560-16A>G rs935733228
NM_024529.5(CDC73):c.1560-18C>A
NM_024529.5(CDC73):c.1560-18C>T rs925676253
NM_024529.5(CDC73):c.1560-20T>C
NM_024529.5(CDC73):c.1560-4del
NM_024529.5(CDC73):c.1560-4dup rs761016442
NM_024529.5(CDC73):c.1560-9T>A rs1572226919
NM_024529.5(CDC73):c.1560G>A (p.Arg520=) rs1487870537
NM_024529.5(CDC73):c.1564A>T (p.Met522Leu) rs751152405
NM_024529.5(CDC73):c.1567G>T (p.Val523Leu) rs1558326418
NM_024529.5(CDC73):c.156A>G (p.Arg52=) rs886045712
NM_024529.5(CDC73):c.1576A>G (p.Lys526Glu)
NM_024529.5(CDC73):c.1578A>G (p.Lys526=) rs1678030993
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter) rs1675541893
NM_024529.5(CDC73):c.1581G>T (p.Ser527=) rs141013612
NM_024529.5(CDC73):c.1586del (p.His528_Leu529insTer) rs1368184407
NM_024529.5(CDC73):c.1587G>C (p.Leu529Phe)
NM_024529.5(CDC73):c.158A>G (p.Glu53Gly) rs1572142551
NM_024529.5(CDC73):c.1590A>G (p.Arg530=) rs1456447381
NM_024529.5(CDC73):c.1592T>G (p.Phe531Cys)
NM_024529.5(CDC73):c.1594T>G (p.Ter532Gly)
NM_024529.5(CDC73):c.159G>A (p.Glu53=) rs2103113918
NM_024529.5(CDC73):c.15T>G (p.Leu5=) rs2103111572
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.5(CDC73):c.162C>T (p.Tyr54=) rs121434265
NM_024529.5(CDC73):c.164A>G (p.Tyr55Cys) rs2103113933
NM_024529.5(CDC73):c.165C>T (p.Tyr55=) rs2103113938
NM_024529.5(CDC73):c.166A>C (p.Thr56Pro)
NM_024529.5(CDC73):c.168A>T (p.Thr56=) rs2103113949
NM_024529.5(CDC73):c.16A>G (p.Ser6Gly)
NM_024529.5(CDC73):c.174T>C (p.Asp58=) rs1060503806
NM_024529.5(CDC73):c.177C>T (p.Ser59=) rs1675542356
NM_024529.5(CDC73):c.178A>G (p.Ile60Val) rs1572142567
NM_024529.5(CDC73):c.178A>T (p.Ile60Phe)
NM_024529.5(CDC73):c.17G>T (p.Ser6Ile)
NM_024529.5(CDC73):c.17del (p.Ser6fs)
NM_024529.5(CDC73):c.187C>G (p.Leu63Val)
NM_024529.5(CDC73):c.188T>C (p.Leu63Pro) rs1060500015
NM_024529.5(CDC73):c.189A>G (p.Leu63=) rs1675542629
NM_024529.5(CDC73):c.18C>A (p.Ser6Arg)
NM_024529.5(CDC73):c.18C>T (p.Ser6=) rs564726032
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.192T>C (p.Leu64=) rs1675542758
NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)
NM_024529.5(CDC73):c.193A>C (p.Asn65His) rs2103113994
NM_024529.5(CDC73):c.196A>G (p.Asn66Asp) rs1675542823
NM_024529.5(CDC73):c.196A>T (p.Asn66Tyr)
NM_024529.5(CDC73):c.1A>G (p.Met1Val) rs1558276054
NM_024529.5(CDC73):c.201del (p.His68fs) rs2103114004
NM_024529.5(CDC73):c.202C>T (p.His68Tyr)
NM_024529.5(CDC73):c.203A>C (p.His68Pro)
NM_024529.5(CDC73):c.205C>G (p.Leu69Val) rs1675543142
NM_024529.5(CDC73):c.205C>T (p.Leu69Phe) rs1675543142
NM_024529.5(CDC73):c.211C>G (p.His71Asp) rs2103114010
NM_024529.5(CDC73):c.213T>C (p.His71=)
NM_024529.5(CDC73):c.21C>G (p.Val7=) rs769522707
NM_024529.5(CDC73):c.21C>T (p.Val7=) rs769522707
NM_024529.5(CDC73):c.220dup (p.Tyr74fs) rs1572142597
NM_024529.5(CDC73):c.221A>G (p.Tyr74Cys)
NM_024529.5(CDC73):c.225C>A (p.Val75=) rs1327944866
NM_024529.5(CDC73):c.225C>G (p.Val75=) rs1327944866
NM_024529.5(CDC73):c.225C>T (p.Val75=) rs1327944866
NM_024529.5(CDC73):c.229C>T (p.Arg77Cys)
NM_024529.5(CDC73):c.22C>T (p.Leu8=) rs1366872937
NM_024529.5(CDC73):c.230G>A (p.Arg77His) rs1572142617
NM_024529.5(CDC73):c.230G>C (p.Arg77Pro) rs1572142617
NM_024529.5(CDC73):c.230G>T (p.Arg77Leu)
NM_024529.5(CDC73):c.233C>G (p.Ala78Gly)
NM_024529.5(CDC73):c.234A>C (p.Ala78=) rs2103114047
NM_024529.5(CDC73):c.235G>A (p.Ala79Thr)
NM_024529.5(CDC73):c.237+18del rs753979898
NM_024529.5(CDC73):c.237+1G>A rs794727303
NM_024529.5(CDC73):c.237+1G>C rs794727303
NM_024529.5(CDC73):c.237+28T>C rs4466634
NM_024529.5(CDC73):c.237+3A>G
NM_024529.5(CDC73):c.237+5G>A rs1675543609
NM_024529.5(CDC73):c.237_237+1insA
NM_024529.5(CDC73):c.238-10T>G
NM_024529.5(CDC73):c.238-14A>G rs2103117745
NM_024529.5(CDC73):c.238-17T>C
NM_024529.5(CDC73):c.238-17T>G
NM_024529.5(CDC73):c.238-1G>A rs587776559
NM_024529.5(CDC73):c.238-3dup rs1553278252
NM_024529.5(CDC73):c.238-5T>C rs2103117757
NM_024529.5(CDC73):c.238-6T>A rs1675669973
NM_024529.5(CDC73):c.238-7G>A rs1572146600
NM_024529.5(CDC73):c.238-7G>C rs1572146600
NM_024529.5(CDC73):c.238-8G>A rs2103117753
NM_024529.5(CDC73):c.238A>G (p.Thr80Ala) rs2103117767
NM_024529.5(CDC73):c.244A>G (p.Asn82Asp) rs2103117785
NM_024529.5(CDC73):c.245del (p.Asn82fs) rs1060500009
NM_024529.5(CDC73):c.249T>C (p.Ile83=)
NM_024529.5(CDC73):c.250C>T (p.Pro84Ser) rs754686636
NM_024529.5(CDC73):c.252T>A (p.Pro84=)
NM_024529.5(CDC73):c.252T>C (p.Pro84=) rs1572146630
NM_024529.5(CDC73):c.258T>C (p.Val86=) rs1060500023
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.261A>G (p.Arg87=) rs2103117840
NM_024529.5(CDC73):c.26G>A (p.Arg9Gln) rs2103111603
NM_024529.5(CDC73):c.26G>C (p.Arg9Pro)
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024529.5(CDC73):c.282A>G (p.Leu94=)
NM_024529.5(CDC73):c.282A>T (p.Leu94=) rs932737851
NM_024529.5(CDC73):c.284T>C (p.Leu95Pro) rs2103117916
NM_024529.5(CDC73):c.285T>G (p.Leu95=) rs1572146653
NM_024529.5(CDC73):c.288A>T (p.Gly96=)
NM_024529.5(CDC73):c.28C>T (p.Gln10Ter)
NM_024529.5(CDC73):c.294C>A (p.Leu98=)
NM_024529.5(CDC73):c.294C>G (p.Leu98=)
NM_024529.5(CDC73):c.294C>T (p.Leu98=) rs1675671233
NM_024529.5(CDC73):c.295A>G (p.Asn99Asp) rs2103117949
NM_024529.5(CDC73):c.296A>G (p.Asn99Ser) rs1060500017
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
NM_024529.5(CDC73):c.299G>A (p.Gly100Asp)
NM_024529.5(CDC73):c.29A>G (p.Gln10Arg)
NM_024529.5(CDC73):c.29A>T (p.Gln10Leu) rs2103111611
NM_024529.5(CDC73):c.2dup (p.Met1fs)
NM_024529.5(CDC73):c.301G>A (p.Glu101Lys) rs772376553
NM_024529.5(CDC73):c.304G>A (p.Ala102Thr) rs1675671504
NM_024529.5(CDC73):c.304G>T (p.Ala102Ser) rs1675671504
NM_024529.5(CDC73):c.305C>G (p.Ala102Gly)
NM_024529.5(CDC73):c.307+10T>G
NM_024529.5(CDC73):c.307+15A>G
NM_024529.5(CDC73):c.307+16A>G
NM_024529.5(CDC73):c.307+17T>A
NM_024529.5(CDC73):c.307+19G>T
NM_024529.5(CDC73):c.307+1G>A
NM_024529.5(CDC73):c.307+3G>A
NM_024529.5(CDC73):c.307+5G>A
NM_024529.5(CDC73):c.307+5G>C
NM_024529.5(CDC73):c.307+5G>T rs2103117996
NM_024529.5(CDC73):c.307+7A>G rs1553278270
NM_024529.5(CDC73):c.307+9T>C rs2103118004
NM_024529.5(CDC73):c.307+9T>G
NM_024529.5(CDC73):c.307T>C (p.Ser103Pro) rs1675671751
NM_024529.5(CDC73):c.308-10A>C rs1572150389
NM_024529.5(CDC73):c.308-10_308-9del rs2103121417
NM_024529.5(CDC73):c.308-11del
NM_024529.5(CDC73):c.308-12T>G
NM_024529.5(CDC73):c.308-15T>G rs1196256327
NM_024529.5(CDC73):c.308-16C>G
NM_024529.5(CDC73):c.308-18A>C
NM_024529.5(CDC73):c.308-20G>A
NM_024529.5(CDC73):c.308-3C>T
NM_024529.5(CDC73):c.308-6C>T
NM_024529.5(CDC73):c.308-7T>A
NM_024529.5(CDC73):c.308-9T>C rs1572150390
NM_024529.5(CDC73):c.309A>G (p.Ser103=)
NM_024529.5(CDC73):c.30G>A (p.Gln10=) rs764533991
NM_024529.5(CDC73):c.310A>T (p.Thr104Ser) rs1675773683
NM_024529.5(CDC73):c.312A>G (p.Thr104=) rs747337987
NM_024529.5(CDC73):c.312A>T (p.Thr104=)
NM_024529.5(CDC73):c.314C>T (p.Ser105Leu) rs1675773790
NM_024529.5(CDC73):c.316G>A (p.Ala106Thr)
NM_024529.5(CDC73):c.318A>G (p.Ala106=)
NM_024529.5(CDC73):c.319A>G (p.Ser107Gly) rs1374821216
NM_024529.5(CDC73):c.320G>A (p.Ser107Asn) rs1572150421
NM_024529.5(CDC73):c.326A>T (p.Asp109Val)
NM_024529.5(CDC73):c.328A>C (p.Arg110=) rs2103121465
NM_024529.5(CDC73):c.331del (p.Ser111fs) rs2103121472
NM_024529.5(CDC73):c.336T>A (p.Ala112=)
NM_024529.5(CDC73):c.336T>G (p.Ala112=)
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter) rs2103121496
NM_024529.5(CDC73):c.342A>C (p.Leu114Phe) rs1675774810
NM_024529.5(CDC73):c.342A>G (p.Leu114=)
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
NM_024529.5(CDC73):c.349G>A (p.Gly117Ser) rs1675774944
NM_024529.5(CDC73):c.34A>C (p.Asn12His)
NM_024529.5(CDC73):c.34A>G (p.Asn12Asp)
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) rs886041278
NM_024529.5(CDC73):c.357G>A (p.Gln119=) rs2103121514
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) rs1572150469
NM_024529.5(CDC73):c.359G>A (p.Arg120Gln) rs2103121520
NM_024529.5(CDC73):c.359G>C (p.Arg120Pro)
NM_024529.5(CDC73):c.35_41del (p.Asn12fs)
NM_024529.5(CDC73):c.360A>T (p.Arg120=) rs2103121528
NM_024529.5(CDC73):c.366T>C (p.Thr122=) rs2103121532
NM_024529.5(CDC73):c.369A>G (p.Gln123=)
NM_024529.5(CDC73):c.370+10G>T rs1572150508
NM_024529.5(CDC73):c.370+11T>A
NM_024529.5(CDC73):c.370+15A>G rs773172494
NM_024529.5(CDC73):c.370+3A>G
NM_024529.5(CDC73):c.370+7C>T rs1375228161
NM_024529.5(CDC73):c.370+9T>A rs1553278822
NM_024529.5(CDC73):c.371-10T>A
NM_024529.5(CDC73):c.371-11T>C
NM_024529.5(CDC73):c.371-11_371-10del
NM_024529.5(CDC73):c.371-12T>G
NM_024529.5(CDC73):c.371-13C>G
NM_024529.5(CDC73):c.371-13C>T
NM_024529.5(CDC73):c.371-13_371-12del rs1558282411
NM_024529.5(CDC73):c.371-14T>G
NM_024529.5(CDC73):c.371-16T>G
NM_024529.5(CDC73):c.371-17T>G rs763780849
NM_024529.5(CDC73):c.371-19A>T rs2103121613
NM_024529.5(CDC73):c.371-20T>C rs2103121611
NM_024529.5(CDC73):c.371-4A>C
NM_024529.5(CDC73):c.371-5TA[3] rs1553278836
NM_024529.5(CDC73):c.371-6T>A rs1060500024
NM_024529.5(CDC73):c.371-6T>C rs1060500024
NM_024529.5(CDC73):c.371-9_371-6del
NM_024529.5(CDC73):c.374A>C (p.Lys125Thr) rs1455915064
NM_024529.5(CDC73):c.374A>G (p.Lys125Arg)
NM_024529.5(CDC73):c.375A>G (p.Lys125=) rs1572150593
NM_024529.5(CDC73):c.375dup (p.Arg126fs) rs1572150584
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.377G>A (p.Arg126Gln) rs1675777366
NM_024529.5(CDC73):c.379G>A (p.Ala127Thr) rs1675777420
NM_024529.5(CDC73):c.37A>G (p.Ile13Val) rs762220544
NM_024529.5(CDC73):c.37A>T (p.Ile13Phe)
NM_024529.5(CDC73):c.380C>T (p.Ala127Val) rs1558282443
NM_024529.5(CDC73):c.386A>G (p.Asp129Gly) rs1675777865
NM_024529.5(CDC73):c.388G>A (p.Glu130Lys)
NM_024529.5(CDC73):c.393T>A (p.Val131=) rs1572150622
NM_024529.5(CDC73):c.396A>G (p.Leu132=)
NM_024529.5(CDC73):c.398C>G (p.Ala133Gly)
NM_024529.5(CDC73):c.399A>G (p.Ala133=) rs1553278851
NM_024529.5(CDC73):c.39C>G (p.Ile13Met)
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.404C>G (p.Ala135Gly) rs1675778193
NM_024529.5(CDC73):c.405A>G (p.Ala135=) rs2103121701
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter) rs2103121703
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr) rs369542555
NM_024529.5(CDC73):c.412C>G (p.Pro138Ala)
NM_024529.5(CDC73):c.413C>T (p.Pro138Leu) rs2103121717
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.419T>G (p.Ile140Ser) rs1675778444
NM_024529.5(CDC73):c.41A>C (p.Gln14Pro)
NM_024529.5(CDC73):c.41A>G (p.Gln14Arg) rs767638609
NM_024529.5(CDC73):c.423+10C>A
NM_024529.5(CDC73):c.423+11dup
NM_024529.5(CDC73):c.423+12_423+13del rs770561055
NM_024529.5(CDC73):c.423+13T>C rs2103121752
NM_024529.5(CDC73):c.423+14A>G
NM_024529.5(CDC73):c.423+14A>T
NM_024529.5(CDC73):c.423+15T>A
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTNNNNNNN rs2103121762
NM_024529.5(CDC73):c.423+18_423+19insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCAAGAAACTGTATTTT rs2103121737
NM_024529.5(CDC73):c.423+1G>A rs1131691732
NM_024529.5(CDC73):c.423+6G>A
NM_024529.5(CDC73):c.423+6G>T
NM_024529.5(CDC73):c.423+9dup
NM_024529.5(CDC73):c.423G>A (p.Glu141=) rs1291044007
NM_024529.5(CDC73):c.424-10T>C
NM_024529.5(CDC73):c.424-11G>A
NM_024529.5(CDC73):c.424-12G>A
NM_024529.5(CDC73):c.424-14G>A
NM_024529.5(CDC73):c.424-15A>G
NM_024529.5(CDC73):c.430G>A (p.Glu144Lys) rs1558283535
NM_024529.5(CDC73):c.433T>C (p.Cys145Arg) rs1675832296
NM_024529.5(CDC73):c.434G>A (p.Cys145Tyr)
NM_024529.5(CDC73):c.436G>C (p.Val146Leu)
NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)
NM_024529.5(CDC73):c.43AAG[1] (p.Lys16del) rs1572139757
NM_024529.5(CDC73):c.441C>T (p.Arg147=)
NM_024529.5(CDC73):c.444T>G (p.Leu148=)
NM_024529.5(CDC73):c.455_456del (p.Arg152fs) rs1060500019
NM_024529.5(CDC73):c.456A>G (p.Arg152=) rs1675832662
NM_024529.5(CDC73):c.459G>A (p.Leu153=) rs1572152394
NM_024529.5(CDC73):c.465C>G (p.Ala155=) rs559275109
NM_024529.5(CDC73):c.466C>T (p.Arg156Cys) rs2103123773
NM_024529.5(CDC73):c.467G>A (p.Arg156His) rs1572152406
NM_024529.5(CDC73):c.46A>G (p.Lys16Glu) rs1675464429
NM_024529.5(CDC73):c.471G>A (p.Leu157=) rs1675832895
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
NM_024529.5(CDC73):c.480C>T (p.His160=)
NM_024529.5(CDC73):c.480_481del (p.His160fs) rs1572152420
NM_024529.5(CDC73):c.483dup (p.Glu162fs) rs1553279085
NM_024529.5(CDC73):c.48G>A (p.Lys16=) rs2103111654
NM_024529.5(CDC73):c.48G>T (p.Lys16Asn)
NM_024529.5(CDC73):c.495A>G (p.Val165=) rs2103123800
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter) rs2103123807
NM_024529.5(CDC73):c.497A>T (p.Gln166Leu)
NM_024529.5(CDC73):c.4del (p.Ala2fs) rs1060500020
NM_024529.5(CDC73):c.501T>A (p.Thr167=) rs200603992
NM_024529.5(CDC73):c.501T>G (p.Thr167=) rs200603992
NM_024529.5(CDC73):c.501_502del (p.Glu168fs) rs2103123824
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter) rs1553279088
NM_024529.5(CDC73):c.510T>C (p.Ile170=)
NM_024529.5(CDC73):c.510del (p.Arg171fs) rs2103123828
NM_024529.5(CDC73):c.512+10C>A rs147939077
NM_024529.5(CDC73):c.512+11T>G
NM_024529.5(CDC73):c.512+14T>G rs2103123848
NM_024529.5(CDC73):c.512+15T>A
NM_024529.5(CDC73):c.512+16A>G rs2103123856
NM_024529.5(CDC73):c.512+18G>T rs2103123859
NM_024529.5(CDC73):c.512+3A>C rs1558283570
NM_024529.5(CDC73):c.512+4A>C
NM_024529.5(CDC73):c.512+5G>C rs557303948
NM_024529.5(CDC73):c.512+6A>C
NM_024529.5(CDC73):c.512+6A>G
NM_024529.5(CDC73):c.512+6A>T rs1216367951
NM_024529.5(CDC73):c.512+8T>C rs2103123836
NM_024529.5(CDC73):c.513-10T>C
NM_024529.5(CDC73):c.513-12A>G
NM_024529.5(CDC73):c.513-14G>T
NM_024529.5(CDC73):c.513-18A>G
NM_024529.5(CDC73):c.513-1G>A
NM_024529.5(CDC73):c.513-20A>T
NM_024529.5(CDC73):c.513-8G>C rs757366134
NM_024529.5(CDC73):c.516T>C (p.Ser172=)
NM_024529.5(CDC73):c.517T>C (p.Leu173=) rs1675912278
NM_024529.5(CDC73):c.520_523del (p.Ser174fs)
NM_024529.5(CDC73):c.525A>G (p.Glu175=)
NM_024529.5(CDC73):c.528T>C (p.Ala176=)
NM_024529.5(CDC73):c.529A>G (p.Met177Val)
NM_024529.5(CDC73):c.529_530dup (p.Met177fs)
NM_024529.5(CDC73):c.52A>G (p.Ile18Val)
NM_024529.5(CDC73):c.53T>C (p.Ile18Thr)
NM_024529.5(CDC73):c.53_54del (p.Ile18fs) rs1558276157
NM_024529.5(CDC73):c.540A>G (p.Glu180=) rs2103126183
NM_024529.5(CDC73):c.54T>C (p.Ile18=) rs2103111672
NM_024529.5(CDC73):c.555C>A (p.Ile185=)
NM_024529.5(CDC73):c.55G>A (p.Val19Met) rs1060500013
NM_024529.5(CDC73):c.56_57del (p.Val19fs)
NM_024529.5(CDC73):c.584C>G (p.Ser195Cys)
NM_024529.5(CDC73):c.584del (p.Ser195fs)
NM_024529.5(CDC73):c.591C>T (p.Ile197=) rs1675913192
NM_024529.5(CDC73):c.596C>G (p.Thr199Ser)
NM_024529.5(CDC73):c.599A>G (p.Asp200Gly)
NM_024529.5(CDC73):c.606T>C (p.Asp202=)
NM_024529.5(CDC73):c.607G>A (p.Asp203Asn)
NM_024529.5(CDC73):c.60G>A (p.Val20=) rs1572139778
NM_024529.5(CDC73):c.613A>G (p.Ile205Val)
NM_024529.5(CDC73):c.617C>G (p.Thr206Ser)
NM_024529.5(CDC73):c.619G>A (p.Ala207Thr) rs1060500016
NM_024529.5(CDC73):c.621C>T (p.Ala207=)
NM_024529.5(CDC73):c.626_629del (p.Lys209fs) rs2103126261
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter) rs2103126265
NM_024529.5(CDC73):c.629A>G (p.Gln210Arg)
NM_024529.5(CDC73):c.633G>A (p.Arg211=)
NM_024529.5(CDC73):c.63G>T (p.Lys21Asn)
NM_024529.5(CDC73):c.640G>A (p.Val214Met) rs1675913675
NM_024529.5(CDC73):c.644A>C (p.Asp215Ala)
NM_024529.5(CDC73):c.645T>C (p.Asp215=) rs2103126282
NM_024529.5(CDC73):c.646G>C (p.Ala216Pro)
NM_024529.5(CDC73):c.648T>C (p.Ala216=) rs143149579
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter) rs1675465013
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) rs886045713
NM_024529.5(CDC73):c.65G>A (p.Gly22Glu)
NM_024529.5(CDC73):c.65G>C (p.Gly22Ala) rs1675465059
NM_024529.5(CDC73):c.663C>T (p.Thr221=) rs2103126329
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.665G>A (p.Arg222Gln) rs1572154825
NM_024529.5(CDC73):c.670A>G (p.Ile224Val) rs1675914120
NM_024529.5(CDC73):c.672T>A (p.Ile224=)
NM_024529.5(CDC73):c.676A>G (p.Ser226Gly) rs2103126362
NM_024529.5(CDC73):c.678C>T (p.Ser226=)
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.684G>C (p.Glu228Asp) rs368708158
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687A>G (p.Arg229=) rs1675914685
NM_024529.5(CDC73):c.687A>T (p.Arg229Ser) rs1675914685
NM_024529.5(CDC73):c.687_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.688G>A (p.Val230Ile) rs2103126383
NM_024529.5(CDC73):c.689T>A (p.Val230Glu) rs1558285020
NM_024529.5(CDC73):c.689T>C (p.Val230Ala) rs1558285020
NM_024529.5(CDC73):c.691T>C (p.Trp231Arg) rs1060500022
NM_024529.5(CDC73):c.699A>G (p.Thr233=)
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120
NM_024529.5(CDC73):c.69_70delinsTT (p.Glu24Ter)
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) rs1675915231
NM_024529.5(CDC73):c.701dup (p.Thr235fs)
NM_024529.5(CDC73):c.703A>G (p.Thr235Ala) rs2103126444
NM_024529.5(CDC73):c.707C>T (p.Thr236Ile)
NM_024529.5(CDC73):c.709A>G (p.Ile237Val) rs1675915480
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)
NM_024529.5(CDC73):c.710T>C (p.Ile237Thr)
NM_024529.5(CDC73):c.711C>A (p.Ile237=) rs2103126478
NM_024529.5(CDC73):c.718del (p.Ser240fs) rs1572154885
NM_024529.5(CDC73):c.721A>G (p.Thr241Ala) rs1572154890
NM_024529.5(CDC73):c.723A>G (p.Thr241=) rs2103126502
NM_024529.5(CDC73):c.725G>A (p.Gly242Glu)
NM_024529.5(CDC73):c.726A>G (p.Gly242=) rs2103126513
NM_024529.5(CDC73):c.728A>T (p.Lys243Met) rs1675915771
NM_024529.5(CDC73):c.729+10A>T
NM_024529.5(CDC73):c.729+13T>C
NM_024529.5(CDC73):c.729+18_729+21del rs1558285044
NM_024529.5(CDC73):c.729+19T>G
NM_024529.5(CDC73):c.729+1G>T rs1060500012
NM_024529.5(CDC73):c.729+3A>G
NM_024529.5(CDC73):c.729+5T>C
NM_024529.5(CDC73):c.729+6del
NM_024529.5(CDC73):c.729G>C (p.Lys243Asn) rs2103126521
NM_024529.5(CDC73):c.730-10T>C rs2103130504
NM_024529.5(CDC73):c.730-14C>T
NM_024529.5(CDC73):c.730-19A>G
NM_024529.5(CDC73):c.730-5T>C rs2103130512
NM_024529.5(CDC73):c.730-6T>C rs1060503809
NM_024529.5(CDC73):c.730A>G (p.Asn244Asp)
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.733T>G (p.Phe245Val) rs2103130516
NM_024529.5(CDC73):c.738C>T (p.Ser246=) rs2103130522
NM_024529.5(CDC73):c.744C>T (p.Asn248=) rs866174269
NM_024529.5(CDC73):c.745A>G (p.Ile249Val)
NM_024529.5(CDC73):c.746T>C (p.Ile249Thr) rs973863694
NM_024529.5(CDC73):c.748T>A (p.Phe250Ile) rs2103130536
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
NM_024529.5(CDC73):c.751G>A (p.Ala251Thr) rs1676029137
NM_024529.5(CDC73):c.752C>G (p.Ala251Gly) rs2103130541
NM_024529.5(CDC73):c.753A>T (p.Ala251=)
NM_024529.5(CDC73):c.761A>G (p.Gln254Arg) rs2103130545
NM_024529.5(CDC73):c.762A>C (p.Gln254His)
NM_024529.5(CDC73):c.762A>T (p.Gln254His)
NM_024529.5(CDC73):c.766G>A (p.Val256Ile) rs1472498930
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024529.5(CDC73):c.768A>G (p.Val256=)
NM_024529.5(CDC73):c.76A>G (p.Ile26Val) rs1675465327
NM_024529.5(CDC73):c.774C>G (p.Ala258=)
NM_024529.5(CDC73):c.774C>T (p.Ala258=) rs1161574170
NM_024529.5(CDC73):c.779AAG[1] (p.Glu261del)
NM_024529.5(CDC73):c.786G>A (p.Gly262=)
NM_024529.5(CDC73):c.786G>T (p.Gly262=) rs764471804
NM_024529.5(CDC73):c.794C>A (p.Pro265His)
NM_024529.5(CDC73):c.794C>G (p.Pro265Arg)
NM_024529.5(CDC73):c.795T>C (p.Pro265=) rs1060503804
NM_024529.5(CDC73):c.798A>G (p.Glu266=) rs2103130582
NM_024529.5(CDC73):c.79T>C (p.Phe27Leu)
NM_024529.5(CDC73):c.7dup (p.Asp3fs) rs1675462891
NM_024529.5(CDC73):c.800A>G (p.Gln267Arg) rs2103130586
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.803G>C (p.Arg268Pro) rs750706815
NM_024529.5(CDC73):c.804A>T (p.Arg268=) rs2103130595
NM_024529.5(CDC73):c.805C>A (p.Pro269Thr) rs1572158663
NM_024529.5(CDC73):c.805C>T (p.Pro269Ser) rs1572158663
NM_024529.5(CDC73):c.807T>G (p.Pro269=)
NM_024529.5(CDC73):c.809C>A (p.Ala270Asp) rs981067363
NM_024529.5(CDC73):c.809_826del (p.Ala270_Pro275del)
NM_024529.5(CDC73):c.811C>G (p.Pro271Ala) rs765029460
NM_024529.5(CDC73):c.811C>T (p.Pro271Ser) rs765029460
NM_024529.5(CDC73):c.812C>G (p.Pro271Arg)
NM_024529.5(CDC73):c.814A>G (p.Asn272Asp)
NM_024529.5(CDC73):c.815A>T (p.Asn272Ile) rs752383339
NM_024529.5(CDC73):c.816T>G (p.Asn272Lys) rs2103130616
NM_024529.5(CDC73):c.817GCA[1] (p.Ala274del)
NM_024529.5(CDC73):c.818C>T (p.Ala273Val) rs2103130620
NM_024529.5(CDC73):c.81C>T (p.Phe27=)
NM_024529.5(CDC73):c.828+10C>G rs1442123779
NM_024529.5(CDC73):c.828+14A>C rs746954367
NM_024529.5(CDC73):c.828+14A>G
NM_024529.5(CDC73):c.828+15C>T
NM_024529.5(CDC73):c.828+16T>C rs1450561584
NM_024529.5(CDC73):c.828+16T>G
NM_024529.5(CDC73):c.828+18C>T
NM_024529.5(CDC73):c.828+4A>G rs777621924
NM_024529.5(CDC73):c.828+7A>C
NM_024529.5(CDC73):c.828+8T>A rs2103130641
NM_024529.5(CDC73):c.828+8T>C rs2103130641
NM_024529.5(CDC73):c.828+8TGCTTTAC[3]
NM_024529.5(CDC73):c.828G>A (p.Val276=) rs1558287563
NM_024529.5(CDC73):c.829-12A>C
NM_024529.5(CDC73):c.829-12A>G
NM_024529.5(CDC73):c.829-13_829-8del
NM_024529.5(CDC73):c.829-20C>G
NM_024529.5(CDC73):c.829-3C>T
NM_024529.5(CDC73):c.829-5dup rs755393679
NM_024529.5(CDC73):c.831T>C (p.Asp277=) rs1572160261
NM_024529.5(CDC73):c.832C>A (p.Pro278Thr)
NM_024529.5(CDC73):c.833C>A (p.Pro278His) rs1676083095
NM_024529.5(CDC73):c.833C>T (p.Pro278Leu) rs1676083095
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_024529.5(CDC73):c.838T>A (p.Leu280Met)
NM_024529.5(CDC73):c.83G>A (p.Gly28Glu)
NM_024529.5(CDC73):c.83G>C (p.Gly28Ala) rs1054465259
NM_024529.5(CDC73):c.842G>T (p.Arg281Leu)
NM_024529.5(CDC73):c.845C>A (p.Thr282Asn)
NM_024529.5(CDC73):c.845C>G (p.Thr282Ser) rs369024183
NM_024529.5(CDC73):c.847A>G (p.Lys283Glu) rs1572160304
NM_024529.5(CDC73):c.848A>C (p.Lys283Thr) rs1676083588
NM_024529.5(CDC73):c.849A>G (p.Lys283=) rs757206621
NM_024529.5(CDC73):c.84G>C (p.Gly28=)
NM_024529.5(CDC73):c.850C>G (p.Gln284Glu)
NM_024529.5(CDC73):c.852G>A (p.Gln284=) rs773602413
NM_024529.5(CDC73):c.852G>C (p.Gln284His) rs773602413
NM_024529.5(CDC73):c.853C>G (p.Pro285Ala)
NM_024529.5(CDC73):c.855T>C (p.Pro285=) rs1553280489
NM_024529.5(CDC73):c.858C>T (p.Ile286=) rs2103132194
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter) rs1131691698
NM_024529.5(CDC73):c.85del (p.Glu29fs) rs587776560
NM_024529.5(CDC73):c.860C>T (p.Pro287Leu) rs1131691352
NM_024529.5(CDC73):c.861A>G (p.Pro287=) rs2103132198
NM_024529.5(CDC73):c.865G>A (p.Ala289Thr)
NM_024529.5(CDC73):c.867C>A (p.Ala289=) rs749915144
NM_024529.5(CDC73):c.872A>G (p.Asn291Ser) rs2103132204
NM_024529.5(CDC73):c.877dup (p.Tyr293fs) rs2103132218
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter) rs2103132220
NM_024529.5(CDC73):c.87G>A (p.Glu29=) rs752004076
NM_024529.5(CDC73):c.87G>C (p.Glu29Asp) rs752004076
NM_024529.5(CDC73):c.880G>C (p.Asp294His) rs2103132225
NM_024529.5(CDC73):c.881A>G (p.Asp294Gly) rs1572160332
NM_024529.5(CDC73):c.882T>C (p.Asp294=) rs112540003
NM_024529.5(CDC73):c.892T>G (p.Phe298Val) rs1676084476
NM_024529.5(CDC73):c.893T>C (p.Phe298Ser)
NM_024529.5(CDC73):c.893del (p.Phe298fs) rs2103132250
NM_024529.5(CDC73):c.8A>G (p.Asp3Gly) rs1675462949
NM_024529.5(CDC73):c.907+10T>C rs2103132274
NM_024529.5(CDC73):c.907+11T>C
NM_024529.5(CDC73):c.907+16C>G
NM_024529.5(CDC73):c.907+16C>T
NM_024529.5(CDC73):c.907+17T>C rs2103132285
NM_024529.5(CDC73):c.907+19A>C
NM_024529.5(CDC73):c.907+19A>G
NM_024529.5(CDC73):c.907+2C>T
NM_024529.5(CDC73):c.907+4A>G rs768964233
NM_024529.5(CDC73):c.907+6T>A rs2103132269
NM_024529.5(CDC73):c.907+8G>A
NM_024529.5(CDC73):c.907+8G>C rs1676084560
NM_024529.5(CDC73):c.907+8del
NM_024529.5(CDC73):c.908-10T>A rs1676129844
NM_024529.5(CDC73):c.908-10T>C rs1676129844
NM_024529.5(CDC73):c.908-14C>G
NM_024529.5(CDC73):c.908-16C>T
NM_024529.5(CDC73):c.908-18G>A rs529592893
NM_024529.5(CDC73):c.908-19A>G
NM_024529.5(CDC73):c.908-3T>C rs2103133616
NM_024529.5(CDC73):c.908-4G>A rs748472788
NM_024529.5(CDC73):c.908-4G>C
NM_024529.5(CDC73):c.908-6T>C rs2103133605
NM_024529.5(CDC73):c.908-6del rs563805986
NM_024529.5(CDC73):c.908-6dup rs563805986
NM_024529.5(CDC73):c.908-9T>C rs1060503805
NM_024529.5(CDC73):c.908-9T>G rs1060503805
NM_024529.5(CDC73):c.90C>T (p.Phe30=) rs2103111735
NM_024529.5(CDC73):c.910A>G (p.Thr304Ala)
NM_024529.5(CDC73):c.912G>A (p.Thr304=) rs758730118
NM_024529.5(CDC73):c.912G>T (p.Thr304=) rs758730118
NM_024529.5(CDC73):c.915A>G (p.Glu305=)
NM_024529.5(CDC73):c.917G>A (p.Gly306Asp) rs2103133623
NM_024529.5(CDC73):c.921C>T (p.Phe307=)
NM_024529.5(CDC73):c.922A>C (p.Lys308Gln)
NM_024529.5(CDC73):c.923A>C (p.Lys308Thr)
NM_024529.5(CDC73):c.923A>G (p.Lys308Arg) rs376649069
NM_024529.5(CDC73):c.92C>A (p.Ser31Tyr) rs1558276199
NM_024529.5(CDC73):c.92C>T (p.Ser31Phe)
NM_024529.5(CDC73):c.942C>T (p.Thr314=)
NM_024529.5(CDC73):c.945C>T (p.Tyr315=) rs1572161610
NM_024529.5(CDC73):c.957A>G (p.Thr319=) rs2103133662
NM_024529.5(CDC73):c.963A>G (p.Lys321=)
NM_024529.5(CDC73):c.965C>G (p.Ser322Cys) rs1676130837
NM_024529.5(CDC73):c.96del (p.Trp32fs)
NM_024529.5(CDC73):c.972+12_972+14dup
NM_024529.5(CDC73):c.972+13G>C
NM_024529.5(CDC73):c.972+14G>T rs1676131155
NM_024529.5(CDC73):c.972+17G>A rs1309551469
NM_024529.5(CDC73):c.972+17G>C
NM_024529.5(CDC73):c.972+19A>G
NM_024529.5(CDC73):c.972+19dup rs2103133685
NM_024529.5(CDC73):c.972+3A>G rs1676130958
NM_024529.5(CDC73):c.972+8A>G
NM_024529.5(CDC73):c.972G>A (p.Thr324=) rs369930569
NM_024529.5(CDC73):c.973-13T>A rs2103178012
NM_024529.5(CDC73):c.973-14T>G
NM_024529.5(CDC73):c.973-16T>A
NM_024529.5(CDC73):c.973-18A>G
NM_024529.5(CDC73):c.973-20C>T
NM_024529.5(CDC73):c.973-6T>C rs1677131770
NM_024529.5(CDC73):c.973-8T>C rs557096653
NM_024529.5(CDC73):c.973-9C>A rs377332359
NM_024529.5(CDC73):c.973-9C>G rs377332359
NM_024529.5(CDC73):c.976G>A (p.Gly326Ser) rs2103178025
NM_024529.5(CDC73):c.979G>C (p.Ala327Pro)
NM_024529.5(CDC73):c.980C>T (p.Ala327Val) rs1677131810
NM_024529.5(CDC73):c.981A>C (p.Ala327=)
NM_024529.5(CDC73):c.981A>G (p.Ala327=) rs1263863175
NM_024529.5(CDC73):c.984T>C (p.Ser328=)
NM_024529.5(CDC73):c.985G>A (p.Ala329Thr)
NM_024529.5(CDC73):c.985G>T (p.Ala329Ser) rs1436120903
NM_024529.5(CDC73):c.988C>A (p.Arg330=) rs1244272523
NM_024529.5(CDC73):c.988C>T (p.Arg330Trp) rs1244272523
NM_024529.5(CDC73):c.989G>T (p.Arg330Leu) rs149875598
NM_024529.5(CDC73):c.990G>T (p.Arg330=) rs1677132126
NM_024529.5(CDC73):c.993G>C (p.Lys331Asn)
NM_024529.5(CDC73):c.994A>T (p.Thr332Ser) rs1572196406
NM_024529.5(CDC73):c.99C>T (p.Pro33=) rs1572139851
NM_024529.5(CDC73):c.99del (p.Lys34fs)
NM_024529.5(CDC73):c.9C>T (p.Asp3=) rs746910026
NM_080425.4(GNAS):c.1005G>T (p.Pro335=) rs536976542
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1428C>G (p.Ala476=) rs559714658
NM_080425.4(GNAS):c.1681_1682delinsTT (p.Arg561Phe)
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser)
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys)
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly) rs2086410482
NM_080425.4(GNAS):c.1886A>C (p.Lys629Thr)
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu)
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu) rs747636634
NM_080425.4(GNAS):c.285C>T (p.Ser95=)
NM_080425.4(GNAS):c.344G>A (p.Trp115Ter)
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro) rs61749696
NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer)
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)
NM_080425.4(GNAS):c.754_761del (p.Ser252fs) rs2086303843
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr)
NM_080425.4(GNAS):c.885C>G (p.Phe295Leu)
NM_080425.4(GNAS):c.890del (p.Gly297fs) rs1391332013
NM_130799.2(MEN1):c.-106T>C rs886048481
NM_130799.2(MEN1):c.-94G>A rs886048480
NM_130799.2(MEN1):c.1351_*820del (p.Val451fs)
NM_198407.2(GHSR):c.925T>A (p.Phe309Ile)
Single allele

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