ClinVar Miner

List of variants in gene SPEG studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 969
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HGVS dbSNP gnomAD frequency
NM_005876.5(SPEG):c.2440+50C>T rs4674399 0.96630
NM_005876.5(SPEG):c.3940+143G>A rs1039897 0.51905
NM_005876.5(SPEG):c.2882-1092T>C rs1567487 0.44286
NC_000002.12:g.219434819G>T rs907683 0.43845
NM_005876.5(SPEG):c.2882-920C>A rs4369848 0.43202
NM_005876.5(SPEG):c.2226G>A (p.Lys742=) rs10932806 0.42459
NM_005876.5(SPEG):c.2882-1172C>T rs1567488 0.40864
NM_005876.5(SPEG):c.2705+154C>T rs34553082 0.39912
NM_005876.5(SPEG):c.2882-1238_2882-1235del rs879511024 0.39781
NM_005876.5(SPEG):c.2882-1280C>T rs4399716 0.37626
NM_005876.5(SPEG):c.4148-161T>C rs4674402 0.36064
NM_005876.5(SPEG):c.3716-73C>T rs73991563 0.29142
NM_005876.5(SPEG):c.3835+14C>T rs73087210 0.16089
NM_005876.5(SPEG):c.1800G>C (p.Arg600=) rs60593157 0.07755
NM_005876.5(SPEG):c.2257+38G>A rs55692495 0.05561
NM_005876.5(SPEG):c.4566G>A (p.Glu1522=) rs45519033 0.05308
NM_005876.5(SPEG):c.1490A>T (p.Glu497Val) rs146216760 0.03670
NM_005876.5(SPEG):c.3716-132T>C rs78737333 0.01999
NM_005876.5(SPEG):c.2897G>A (p.Arg966Gln) rs34861443 0.01421
NM_005876.5(SPEG):c.4019G>A (p.Arg1340Gln) rs34994343 0.01112
NM_005876.5(SPEG):c.3042A>G (p.Lys1014=) rs61741762 0.01037
NM_005876.5(SPEG):c.3060T>C (p.Asp1020=) rs61747228 0.01035
NM_005876.5(SPEG):c.617G>A (p.Arg206His) rs55821435 0.00956
NM_005876.5(SPEG):c.116T>C (p.Val39Ala) rs565137573 0.00953
NM_005876.5(SPEG):c.984C>T (p.Pro328=) rs187565836 0.00937
NM_005876.5(SPEG):c.5196G>A (p.Ala1732=) rs61743627 0.00819
NM_005876.5(SPEG):c.3164G>A (p.Arg1055Gln) rs35181232 0.00753
NM_005876.5(SPEG):c.3928G>A (p.Asp1310Asn) rs116911250 0.00577
NM_005876.5(SPEG):c.4730-4C>T rs79386296 0.00537
NM_005876.5(SPEG):c.1887G>A (p.Arg629=) rs367886901 0.00465
NM_005876.5(SPEG):c.3363G>A (p.Leu1121=) rs148131894 0.00452
NM_005876.5(SPEG):c.2859C>T (p.Cys953=) rs35665419 0.00334
NM_005876.5(SPEG):c.3301+4C>T rs114606131 0.00325
NM_005876.5(SPEG):c.4729+16G>A rs139593630 0.00325
NM_005876.5(SPEG):c.3308C>T (p.Pro1103Leu) rs56334571 0.00319
NM_005876.5(SPEG):c.4419G>C (p.Gln1473His) rs185047969 0.00316
NM_005876.5(SPEG):c.1620C>G (p.Ser540=) rs561887937 0.00305
NM_005876.5(SPEG):c.3004C>T (p.Leu1002=) rs114572727 0.00304
NM_005876.5(SPEG):c.153C>T (p.Asn51=) rs368226647 0.00245
NM_005876.5(SPEG):c.5242C>T (p.Leu1748=) rs201323507 0.00202
NM_005876.5(SPEG):c.2250G>A (p.Pro750=) rs56237719 0.00192
NM_005876.5(SPEG):c.3998C>T (p.Thr1333Met) rs76811720 0.00172
NM_005876.5(SPEG):c.2572C>T (p.Arg858Cys) rs199582765 0.00124
NM_005876.5(SPEG):c.1753G>A (p.Gly585Ser) rs200066956 0.00118
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln) rs181222936 0.00113
NM_005876.5(SPEG):c.815+9C>T rs34619091 0.00113
NM_005876.5(SPEG):c.2705+10C>T rs186656245 0.00112
NM_005876.5(SPEG):c.3969G>T (p.Gln1323His) rs55876679 0.00102
NM_005876.5(SPEG):c.4688C>T (p.Ala1563Val) rs150628707 0.00072
NM_005876.5(SPEG):c.5289T>C (p.Phe1763=) rs377721845 0.00064
NM_005876.5(SPEG):c.620G>A (p.Arg207His) rs202020343 0.00064
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_005876.5(SPEG):c.182G>A (p.Arg61Gln) rs752331636 0.00060
NM_005876.5(SPEG):c.2065C>T (p.Arg689Cys) rs538506677 0.00059
NM_005876.5(SPEG):c.5541G>A (p.Glu1847=) rs190001816 0.00058
NM_005876.5(SPEG):c.1338G>T (p.Pro446=) rs192560937 0.00054
NM_005876.5(SPEG):c.4382C>T (p.Ala1461Val) rs376063479 0.00051
NM_005876.5(SPEG):c.2705+11G>A rs370801735 0.00050
NM_005876.5(SPEG):c.3952C>T (p.Leu1318=) rs141166555 0.00045
NM_005876.5(SPEG):c.5055C>T (p.Ile1685=) rs151167400 0.00044
NM_005876.5(SPEG):c.3345C>T (p.Asp1115=) rs185911101 0.00042
NM_005876.5(SPEG):c.1351G>A (p.Gly451Arg) rs776297641 0.00039
NM_005876.5(SPEG):c.3491+9G>A rs201202480 0.00039
NM_005876.5(SPEG):c.4147+6C>G rs199897861 0.00038
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu) rs747464249 0.00037
NM_005876.5(SPEG):c.5448C>T (p.Phe1816=) rs200268589 0.00036
NM_005876.5(SPEG):c.2053C>G (p.Arg685Gly) rs767316023 0.00034
NM_005876.5(SPEG):c.5061G>A (p.Arg1687=) rs559606643 0.00034
NM_005876.5(SPEG):c.596C>T (p.Ala199Val) rs200153486 0.00034
NM_005876.5(SPEG):c.2943C>T (p.Ala981=) rs372494202 0.00029
NM_005876.5(SPEG):c.4447+12C>T rs368503318 0.00029
NM_005876.5(SPEG):c.964C>T (p.Pro322Ser) rs764502382 0.00028
NM_005876.5(SPEG):c.4148-17C>T rs377285168 0.00027
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys) rs55646900 0.00027
NM_005876.5(SPEG):c.2441-8C>G rs375370312 0.00026
NM_005876.5(SPEG):c.1301G>A (p.Arg434His) rs924342297 0.00025
NM_005876.5(SPEG):c.219C>T (p.Ser73=) rs773940783 0.00025
NM_005876.5(SPEG):c.4167C>A (p.Ala1389=) rs370013462 0.00025
NM_005876.5(SPEG):c.5388G>A (p.Pro1796=) rs368256206 0.00025
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln) rs200847303 0.00024
NM_005876.5(SPEG):c.529G>A (p.Val177Met) rs747378329 0.00020
NM_005876.5(SPEG):c.1046C>T (p.Thr349Ile) rs371077558 0.00019
NM_005876.5(SPEG):c.3202C>T (p.Arg1068Trp) rs200437079 0.00019
NM_005876.5(SPEG):c.3742C>T (p.Pro1248Ser) rs576108067 0.00019
NM_005876.5(SPEG):c.3747C>T (p.Ala1249=) rs372261652 0.00019
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser) rs544959269 0.00019
NM_005876.5(SPEG):c.5370-6C>T rs375243198 0.00019
NM_005876.5(SPEG):c.4311C>T (p.Tyr1437=) rs772393925 0.00018
NM_005876.5(SPEG):c.3111C>T (p.Gly1037=) rs375637468 0.00017
NM_005876.5(SPEG):c.5565+13T>C rs182634965 0.00017
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_005876.5(SPEG):c.2139C>T (p.Ser713=) rs762151370 0.00016
NM_005876.5(SPEG):c.3999G>A (p.Thr1333=) rs55684906 0.00016
NM_005876.5(SPEG):c.4018C>T (p.Arg1340Trp) rs543439721 0.00016
NM_005876.5(SPEG):c.1469T>G (p.Leu490Arg) rs775059392 0.00015
NM_005876.5(SPEG):c.14G>T (p.Arg5Leu) rs576016632 0.00015
NM_005876.5(SPEG):c.3762C>T (p.His1254=) rs368441604 0.00015
NM_005876.5(SPEG):c.4146C>T (p.His1382=) rs528632562 0.00015
NM_005876.5(SPEG):c.1915C>T (p.Arg639Cys) rs774057125 0.00014
NM_005876.5(SPEG):c.2667C>T (p.Ser889=) rs373573212 0.00014
NM_005876.5(SPEG):c.3302-15C>T rs755116060 0.00014
NM_005876.5(SPEG):c.1343G>A (p.Gly448Asp) rs910357653 0.00013
NM_005876.5(SPEG):c.3528G>A (p.Glu1176=) rs55759642 0.00013
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_005876.5(SPEG):c.2616+9C>G rs377719499 0.00012
NM_005876.5(SPEG):c.3112G>A (p.Val1038Ile) rs765133843 0.00012
NM_005876.5(SPEG):c.1107G>A (p.Ala369=) rs368196077 0.00011
NM_005876.5(SPEG):c.1536C>G (p.Arg512=) rs1356792103 0.00011
NM_005876.5(SPEG):c.2161G>A (p.Ala721Thr) rs368756743 0.00011
NM_005876.5(SPEG):c.3187G>A (p.Ala1063Thr) rs202124859 0.00011
NM_005876.5(SPEG):c.5022C>T (p.Thr1674=) rs367927261 0.00011
NM_005876.5(SPEG):c.5522+16T>C rs758135038 0.00011
NM_005876.5(SPEG):c.2381C>T (p.Ala794Val) rs201205287 0.00010
NM_005876.5(SPEG):c.2439C>T (p.Pro813=) rs372257767 0.00010
NM_005876.5(SPEG):c.3716-17T>C rs765413969 0.00010
NM_005876.5(SPEG):c.5319C>T (p.Pro1773=) rs376664998 0.00010
NM_005876.5(SPEG):c.2114-20G>A rs190906276 0.00009
NM_005876.5(SPEG):c.2249C>T (p.Pro750Leu) rs369405843 0.00009
NM_005876.5(SPEG):c.3810C>T (p.Ala1270=) rs376217306 0.00009
NM_005876.5(SPEG):c.4742T>C (p.Met1581Thr) rs527690811 0.00009
NM_005876.5(SPEG):c.2429C>T (p.Thr810Ile) rs367597799 0.00008
NM_005876.5(SPEG):c.656G>C (p.Gly219Ala) rs774031648 0.00008
NM_005876.5(SPEG):c.2385C>T (p.Thr795=) rs370288115 0.00007
NM_005876.5(SPEG):c.2976G>A (p.Ala992=) rs568360621 0.00007
NM_005876.5(SPEG):c.3861C>T (p.Gly1287=) rs771154003 0.00007
NM_005876.5(SPEG):c.4428G>A (p.Ser1476=) rs775881433 0.00007
NM_005876.5(SPEG):c.769G>A (p.Gly257Ser) rs376718418 0.00007
NM_005876.5(SPEG):c.1549C>T (p.Leu517=) rs987204395 0.00006
NM_005876.5(SPEG):c.1568G>A (p.Arg523His) rs964536524 0.00006
NM_005876.5(SPEG):c.1622C>T (p.Thr541Ile) rs929264588 0.00006
NM_005876.5(SPEG):c.1969T>C (p.Leu657=) rs763195558 0.00006
NM_005876.5(SPEG):c.2121G>A (p.Ser707=) rs763107502 0.00006
NM_005876.5(SPEG):c.2217G>A (p.Val739=) rs372147992 0.00006
NM_005876.5(SPEG):c.2484G>A (p.Glu828=) rs749652486 0.00006
NM_005876.5(SPEG):c.264C>G (p.Pro88=) rs911436001 0.00006
NM_005876.5(SPEG):c.322T>C (p.Cys108Arg) rs764029757 0.00006
NM_005876.5(SPEG):c.341G>C (p.Arg114Pro) rs751671030 0.00006
NM_005876.5(SPEG):c.3730C>T (p.Arg1244Cys) rs770645696 0.00006
NM_005876.5(SPEG):c.4849C>T (p.Arg1617Cys) rs201670112 0.00006
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val) rs199971371 0.00006
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys) rs570861370 0.00006
NM_005876.5(SPEG):c.5028-3T>C rs201161012 0.00006
NM_005876.5(SPEG):c.616C>T (p.Arg206Cys) rs758478780 0.00006
NM_005876.5(SPEG):c.749C>T (p.Ser250Phe) rs372300281 0.00006
NM_005876.5(SPEG):c.1434C>T (p.Asp478=) rs1047754410 0.00005
NM_005876.5(SPEG):c.3017G>A (p.Arg1006His) rs571127512 0.00005
NM_005876.5(SPEG):c.3921G>A (p.Arg1307=) rs777399726 0.00005
NM_005876.5(SPEG):c.4091T>C (p.Val1364Ala) rs774278488 0.00005
NM_005876.5(SPEG):c.4405C>T (p.Arg1469Cys) rs748200228 0.00005
NM_005876.5(SPEG):c.4730-15A>T rs201820501 0.00005
NM_005876.5(SPEG):c.4850G>A (p.Arg1617His) rs200758666 0.00005
NM_005876.5(SPEG):c.5298C>T (p.Pro1766=) rs369667103 0.00005
NM_005876.5(SPEG):c.1314G>A (p.Gln438=) rs369373336 0.00004
NM_005876.5(SPEG):c.1433A>G (p.Asp478Gly) rs1384664709 0.00004
NM_005876.5(SPEG):c.2133C>T (p.Tyr711=) rs371768029 0.00004
NM_005876.5(SPEG):c.2287C>T (p.Arg763Cys) rs767356198 0.00004
NM_005876.5(SPEG):c.247C>T (p.Leu83=) rs958454982 0.00004
NM_005876.5(SPEG):c.2535G>A (p.Pro845=) rs752578325 0.00004
NM_005876.5(SPEG):c.254C>T (p.Ala85Val) rs1256623141 0.00004
NM_005876.5(SPEG):c.2616+7C>A rs766400951 0.00004
NM_005876.5(SPEG):c.2672G>A (p.Arg891His) rs547176817 0.00004
NM_005876.5(SPEG):c.2777G>A (p.Arg926Gln) rs376823807 0.00004
NM_005876.5(SPEG):c.286C>A (p.Arg96=) rs760453637 0.00004
NM_005876.5(SPEG):c.3269C>T (p.Thr1090Ile) rs547314352 0.00004
NM_005876.5(SPEG):c.3319A>G (p.Ser1107Gly) rs368200977 0.00004
NM_005876.5(SPEG):c.3477C>T (p.Ala1159=) rs372151356 0.00004
NM_005876.5(SPEG):c.3522C>T (p.Pro1174=) rs376913006 0.00004
NM_005876.5(SPEG):c.3616A>G (p.Met1206Val) rs764257690 0.00004
NM_005876.5(SPEG):c.3679C>T (p.Arg1227Cys) rs763922724 0.00004
NM_005876.5(SPEG):c.3835+18G>A rs745632462 0.00004
NM_005876.5(SPEG):c.3993G>A (p.Gln1331=) rs368564757 0.00004
NM_005876.5(SPEG):c.4504G>T (p.Ala1502Ser) rs757314993 0.00004
NM_005876.5(SPEG):c.4931G>A (p.Arg1644Gln) rs750341445 0.00004
NM_005876.5(SPEG):c.4976A>G (p.Tyr1659Cys) rs188341907 0.00004
NM_005876.5(SPEG):c.50C>T (p.Pro17Leu) rs934221054 0.00004
NM_005876.5(SPEG):c.5292A>G (p.Val1764=) rs56357558 0.00004
NM_005876.5(SPEG):c.5565+15C>T rs376455345 0.00004
NM_005876.5(SPEG):c.1115G>A (p.Arg372Gln) rs1399740464 0.00003
NM_005876.5(SPEG):c.114C>G (p.Ala38=) rs1255761250 0.00003
NM_005876.5(SPEG):c.2025G>C (p.Glu675Asp) rs767806642 0.00003
NM_005876.5(SPEG):c.2258-16C>A rs765716715 0.00003
NM_005876.5(SPEG):c.2528C>A (p.Thr843Asn) rs770603711 0.00003
NM_005876.5(SPEG):c.2673C>T (p.Arg891=) rs765532305 0.00003
NM_005876.5(SPEG):c.2919C>A (p.Pro973=) rs757462910 0.00003
NM_005876.5(SPEG):c.3175C>T (p.Arg1059Trp) rs753187910 0.00003
NM_005876.5(SPEG):c.3390C>T (p.Asp1130=) rs371373509 0.00003
NM_005876.5(SPEG):c.3715+4C>T rs529058423 0.00003
NM_005876.5(SPEG):c.3885G>A (p.Thr1295=) rs774870453 0.00003
NM_005876.5(SPEG):c.4147+16C>T rs748954272 0.00003
NM_005876.5(SPEG):c.4147+9G>T rs202033993 0.00003
NM_005876.5(SPEG):c.4181A>G (p.Asp1394Gly) rs1012176876 0.00003
NM_005876.5(SPEG):c.4370G>A (p.Arg1457Gln) rs752216303 0.00003
NM_005876.5(SPEG):c.4776T>C (p.His1592=) rs775493186 0.00003
NM_005876.5(SPEG):c.4827-18C>T rs773770032 0.00003
NM_005876.5(SPEG):c.4876G>C (p.Glu1626Gln) rs772487420 0.00003
NM_005876.5(SPEG):c.5518C>T (p.Arg1840Trp) rs369971008 0.00003
NM_005876.5(SPEG):c.59C>T (p.Pro20Leu) rs936963608 0.00003
NM_005876.5(SPEG):c.813C>T (p.His271=) rs750730495 0.00003
NM_005876.5(SPEG):c.1026T>A (p.Pro342=) rs774687329 0.00002
NM_005876.5(SPEG):c.1089C>T (p.Pro363=) rs1192939303 0.00002
NM_005876.5(SPEG):c.1161G>A (p.Leu387=) rs772628892 0.00002
NM_005876.5(SPEG):c.1209G>A (p.Lys403=) rs1224699338 0.00002
NM_005876.5(SPEG):c.2728C>T (p.Arg910Cys) rs539214212 0.00002
NM_005876.5(SPEG):c.2882-7C>G rs1430913423 0.00002
NM_005876.5(SPEG):c.2975C>T (p.Ala992Val) rs766108579 0.00002
NM_005876.5(SPEG):c.3057C>T (p.Phe1019=) rs1028879990 0.00002
NM_005876.5(SPEG):c.3064C>T (p.Arg1022Cys) rs747641930 0.00002
NM_005876.5(SPEG):c.3120C>T (p.Thr1040=) rs371524591 0.00002
NM_005876.5(SPEG):c.3301+5G>A rs1012833572 0.00002
NM_005876.5(SPEG):c.3384C>T (p.Ser1128=) rs753362416 0.00002
NM_005876.5(SPEG):c.3494C>T (p.Ser1165Leu) rs778875841 0.00002
NM_005876.5(SPEG):c.3696C>T (p.Asp1232=) rs751738051 0.00002
NM_005876.5(SPEG):c.3874G>A (p.Val1292Met) rs763276969 0.00002
NM_005876.5(SPEG):c.4302C>T (p.Ala1434=) rs1209056523 0.00002
NM_005876.5(SPEG):c.456C>T (p.Asp152=) rs201002745 0.00002
NM_005876.5(SPEG):c.4609G>A (p.Glu1537Lys) rs746466244 0.00002
NM_005876.5(SPEG):c.4623C>T (p.Ser1541=) rs780937372 0.00002
NM_005876.5(SPEG):c.4794C>T (p.Ser1598=) rs774836908 0.00002
NM_005876.5(SPEG):c.4930C>T (p.Arg1644Trp) rs371553667 0.00002
NM_005876.5(SPEG):c.5163+11G>A rs769581972 0.00002
NM_005876.5(SPEG):c.5164-19C>T rs1445999956 0.00002
NM_005876.5(SPEG):c.5217C>T (p.Ile1739=) rs775206578 0.00002
NM_005876.5(SPEG):c.5311C>G (p.Gln1771Glu) rs764724129 0.00002
NM_005876.5(SPEG):c.5369+11C>T rs1338369109 0.00002
NM_005876.5(SPEG):c.54C>T (p.Pro18=) rs890050214 0.00002
NM_005876.5(SPEG):c.655G>A (p.Gly219Arg) rs375417298 0.00002
NM_005876.5(SPEG):c.714G>A (p.Leu238=) rs369001739 0.00002
NM_005876.5(SPEG):c.768C>T (p.Tyr256=) rs760507292 0.00002
NM_005876.5(SPEG):c.822C>G (p.Val274=) rs1270768802 0.00002
NM_005876.5(SPEG):c.1059G>A (p.Lys353=) rs1334229192 0.00001
NM_005876.5(SPEG):c.1149C>T (p.Arg383=) rs1295142218 0.00001
NM_005876.5(SPEG):c.1188C>T (p.Ala396=) rs1373577791 0.00001
NM_005876.5(SPEG):c.1316C>G (p.Pro439Arg) rs1575057382 0.00001
NM_005876.5(SPEG):c.137T>C (p.Leu46Pro) rs1954679355 0.00001
NM_005876.5(SPEG):c.1422G>A (p.Ala474=) rs958187269 0.00001
NM_005876.5(SPEG):c.1589C>T (p.Pro530Leu) rs1440670261 0.00001
NM_005876.5(SPEG):c.1597C>T (p.Pro533Ser) rs779175668 0.00001
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp) rs1381276826 0.00001
NM_005876.5(SPEG):c.1624C>G (p.Pro542Ala) rs983794693 0.00001
NM_005876.5(SPEG):c.1657G>T (p.Ala553Ser) rs1313788403 0.00001
NM_005876.5(SPEG):c.1693G>A (p.Gly565Arg) rs1368201631 0.00001
NM_005876.5(SPEG):c.1854C>T (p.Pro618=) rs990815272 0.00001
NM_005876.5(SPEG):c.1921C>T (p.Leu641=) rs771894849 0.00001
NM_005876.5(SPEG):c.1937C>T (p.Pro646Leu) rs935500174 0.00001
NM_005876.5(SPEG):c.1950C>T (p.Gly650=) rs1342967375 0.00001
NM_005876.5(SPEG):c.1952C>T (p.Ala651Val) rs1278710379 0.00001
NM_005876.5(SPEG):c.1956T>C (p.Ala652=) rs1454874495 0.00001
NM_005876.5(SPEG):c.2033G>C (p.Gly678Ala) rs1315249299 0.00001
NM_005876.5(SPEG):c.2046C>T (p.Pro682=) rs1689552356 0.00001
NM_005876.5(SPEG):c.2091C>G (p.Ala697=) rs1457890109 0.00001
NM_005876.5(SPEG):c.2114-5G>A rs772893756 0.00001
NM_005876.5(SPEG):c.2134G>A (p.Val712Met) rs375953839 0.00001
NM_005876.5(SPEG):c.2365G>T (p.Ala789Ser) rs1418811382 0.00001
NM_005876.5(SPEG):c.2367C>T (p.Ala789=) rs1156809708 0.00001
NM_005876.5(SPEG):c.2378T>C (p.Met793Thr) rs1042049930 0.00001
NM_005876.5(SPEG):c.239G>A (p.Gly80Glu) rs1404334141 0.00001
NM_005876.5(SPEG):c.2440G>A (p.Gly814Ser) rs1446580784 0.00001
NM_005876.5(SPEG):c.2441-18A>G rs554564499 0.00001
NM_005876.5(SPEG):c.2469C>T (p.Pro823=) rs1389028816 0.00001
NM_005876.5(SPEG):c.2533C>T (p.Pro845Ser) rs369395171 0.00001
NM_005876.5(SPEG):c.2717G>A (p.Arg906His) rs372084593 0.00001
NM_005876.5(SPEG):c.2725G>A (p.Val909Met) rs1358749184 0.00001
NM_005876.5(SPEG):c.275G>T (p.Cys92Phe) rs941657395 0.00001
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp) rs956843160 0.00001
NM_005876.5(SPEG):c.2776C>T (p.Arg926Trp) rs763189226 0.00001
NM_005876.5(SPEG):c.2935G>T (p.Val979Leu) rs749784967 0.00001
NM_005876.5(SPEG):c.2955G>A (p.Ala985=) rs569559304 0.00001
NM_005876.5(SPEG):c.3058G>A (p.Asp1020Asn) rs749737977 0.00001
NM_005876.5(SPEG):c.3102C>T (p.Asp1034=) rs776282465 0.00001
NM_005876.5(SPEG):c.3135G>A (p.Thr1045=) rs767520359 0.00001
NM_005876.5(SPEG):c.3397C>A (p.Leu1133Ile) rs746963657 0.00001
NM_005876.5(SPEG):c.3404C>T (p.Ala1135Val) rs55670811 0.00001
NM_005876.5(SPEG):c.3426T>C (p.His1142=) rs773663409 0.00001
NM_005876.5(SPEG):c.3456T>C (p.Tyr1152=) rs189442728 0.00001
NM_005876.5(SPEG):c.347G>C (p.Arg116Pro) rs756522056 0.00001
NM_005876.5(SPEG):c.3491+8C>T rs753933802 0.00001
NM_005876.5(SPEG):c.3540T>C (p.Gly1180=) rs1575122891 0.00001
NM_005876.5(SPEG):c.3598G>A (p.Gly1200Arg) rs760536869 0.00001
NM_005876.5(SPEG):c.3637G>A (p.Gly1213Ser) rs756568021 0.00001
NM_005876.5(SPEG):c.3672T>C (p.Asn1224=) rs771836347 0.00001
NM_005876.5(SPEG):c.3680G>A (p.Arg1227His) rs760564290 0.00001
NM_005876.5(SPEG):c.3701G>A (p.Arg1234Gln) rs749872640 0.00001
NM_005876.5(SPEG):c.3703C>T (p.Arg1235Cys) rs753756338 0.00001
NM_005876.5(SPEG):c.3765C>T (p.Ala1255=) rs758834571 0.00001
NM_005876.5(SPEG):c.3912C>A (p.Asn1304Lys) rs754773582 0.00001
NM_005876.5(SPEG):c.3923G>T (p.Ser1308Ile) rs566879977 0.00001
NM_005876.5(SPEG):c.3947A>C (p.Asp1316Ala) rs377373189 0.00001
NM_005876.5(SPEG):c.3962C>T (p.Thr1321Ile) rs1410379279 0.00001
NM_005876.5(SPEG):c.4049G>A (p.Arg1350His) rs376367804 0.00001
NM_005876.5(SPEG):c.4148-11C>T rs1339650676 0.00001
NM_005876.5(SPEG):c.4148-8C>A rs1692072360 0.00001
NM_005876.5(SPEG):c.4185A>G (p.Lys1395=) rs762025998 0.00001
NM_005876.5(SPEG):c.4225G>A (p.Val1409Ile) rs756677359 0.00001
NM_005876.5(SPEG):c.4230C>T (p.Thr1410=) rs780757296 0.00001
NM_005876.5(SPEG):c.4369C>T (p.Arg1457Trp) rs1040240201 0.00001
NM_005876.5(SPEG):c.4383C>T (p.Ala1461=) rs568204348 0.00001
NM_005876.5(SPEG):c.4386C>A (p.Leu1462=) rs200679355 0.00001
NM_005876.5(SPEG):c.4406G>A (p.Arg1469His) rs778086073 0.00001
NM_005876.5(SPEG):c.440T>A (p.Leu147Gln) rs768947873 0.00001
NM_005876.5(SPEG):c.448C>T (p.Arg150Trp) rs1324038831 0.00001
NM_005876.5(SPEG):c.4490G>A (p.Gly1497Glu) rs765319097 0.00001
NM_005876.5(SPEG):c.4581G>C (p.Glu1527Asp) rs754063100 0.00001
NM_005876.5(SPEG):c.4601T>C (p.Val1534Ala) rs923705216 0.00001
NM_005876.5(SPEG):c.465C>T (p.Phe155=) rs763987828 0.00001
NM_005876.5(SPEG):c.474C>T (p.Pro158=) rs780051147 0.00001
NM_005876.5(SPEG):c.476C>T (p.Thr159Met) rs1348621476 0.00001
NM_005876.5(SPEG):c.479-11C>T rs750417340 0.00001
NM_005876.5(SPEG):c.4826+12G>C rs371743943 0.00001
NM_005876.5(SPEG):c.4884G>A (p.Ala1628=) rs373012879 0.00001
NM_005876.5(SPEG):c.4957C>A (p.Gln1653Lys) rs747356918 0.00001
NM_005876.5(SPEG):c.5003G>A (p.Arg1668Gln) rs750297716 0.00001
NM_005876.5(SPEG):c.5056G>A (p.Ala1686Thr) rs757402785 0.00001
NM_005876.5(SPEG):c.5070C>T (p.Thr1690=) rs780483131 0.00001
NM_005876.5(SPEG):c.5102G>A (p.Arg1701Gln) rs780393309 0.00001
NM_005876.5(SPEG):c.5142C>T (p.His1714=) rs368444908 0.00001
NM_005876.5(SPEG):c.5200G>A (p.Glu1734Lys) rs375882609 0.00001
NM_005876.5(SPEG):c.5268C>T (p.Cys1756=) rs773252094 0.00001
NM_005876.5(SPEG):c.5309A>G (p.Asn1770Ser) rs1692694885 0.00001
NM_005876.5(SPEG):c.5343-11T>C rs767050009 0.00001
NM_005876.5(SPEG):c.5361C>T (p.Ala1787=) rs754771135 0.00001
NM_005876.5(SPEG):c.5364C>T (p.Phe1788=) rs778764827 0.00001
NM_005876.5(SPEG):c.5476A>G (p.Arg1826Gly) rs1692828116 0.00001
NM_005876.5(SPEG):c.5553T>G (p.His1851Gln) rs775140062 0.00001
NM_005876.5(SPEG):c.571G>A (p.Gly191Arg) rs1294705057 0.00001
NM_005876.5(SPEG):c.654C>T (p.Thr218=) rs759081809 0.00001
NM_005876.5(SPEG):c.658G>A (p.Ala220Thr) rs771806971 0.00001
NM_005876.5(SPEG):c.661G>A (p.Gly221Arg) rs760541032 0.00001
NM_005876.5(SPEG):c.816-16C>T rs370246624 0.00001
NM_005876.5(SPEG):c.941C>T (p.Pro314Leu) rs1307290535 0.00001
NM_005876.5(SPEG):c.943C>T (p.Arg315Trp) rs749179876 0.00001
NM_005876.5(SPEG):c.9A>G (p.Lys3=) rs1376112149 0.00001
NC_000002.11:g.(?_220299700)_(220357508_?)del
NM_005876.5(SPEG):c.1002G>A (p.Ser334=)
NM_005876.5(SPEG):c.1018C>G (p.Gln340Glu)
NM_005876.5(SPEG):c.1023G>A (p.Glu341=)
NM_005876.5(SPEG):c.1054G>A (p.Glu352Lys)
NM_005876.5(SPEG):c.1066AAG[1] (p.Lys357del)
NM_005876.5(SPEG):c.108T>C (p.Pro36=)
NM_005876.5(SPEG):c.1091C>T (p.Ser364Phe)
NM_005876.5(SPEG):c.1092C>T (p.Ser364=)
NM_005876.5(SPEG):c.1101C>T (p.Gly367=)
NM_005876.5(SPEG):c.1103C>T (p.Thr368Ile) rs2125280449
NM_005876.5(SPEG):c.111G>A (p.Val37=) rs1458191238
NM_005876.5(SPEG):c.1129C>T (p.Leu377=)
NM_005876.5(SPEG):c.1148G>C (p.Arg383Pro)
NM_005876.5(SPEG):c.114C>A (p.Ala38=)
NM_005876.5(SPEG):c.1176G>A (p.Arg392=)
NM_005876.5(SPEG):c.1177C>T (p.Leu393=)
NM_005876.5(SPEG):c.1183C>G (p.Arg395Gly) rs1689476622
NM_005876.5(SPEG):c.1191C>G (p.Gly397=)
NM_005876.5(SPEG):c.120C>T (p.Ala40=)
NM_005876.5(SPEG):c.1224G>C (p.Glu408Asp)
NM_005876.5(SPEG):c.123G>A (p.Gly41=)
NM_005876.5(SPEG):c.1248C>G (p.Arg416=)
NM_005876.5(SPEG):c.1254C>T (p.Asp418=)
NM_005876.5(SPEG):c.1257G>C (p.Ser419=)
NM_005876.5(SPEG):c.1264G>A (p.Ala422Thr) rs778394831
NM_005876.5(SPEG):c.1268C>T (p.Pro423Leu)
NM_005876.5(SPEG):c.1276_1293dup (p.Pro426_Arg431dup) rs2125281936
NM_005876.5(SPEG):c.1286C>G (p.Pro429Arg)
NM_005876.5(SPEG):c.1292G>T (p.Arg431Leu)
NM_005876.5(SPEG):c.1320G>A (p.Lys440=)
NM_005876.5(SPEG):c.1323G>C (p.Ser441=) rs1689488101
NM_005876.5(SPEG):c.1328G>C (p.Arg443Pro)
NM_005876.5(SPEG):c.1332C>T (p.Gly444=)
NM_005876.5(SPEG):c.1341G>T (p.Trp447Cys)
NM_005876.5(SPEG):c.1354G>T (p.Ala452Ser) rs1302346799
NM_005876.5(SPEG):c.1355C>A (p.Ala452Asp)
NM_005876.5(SPEG):c.1359G>A (p.Ser453=)
NM_005876.5(SPEG):c.1359G>C (p.Ser453=)
NM_005876.5(SPEG):c.1372C>T (p.Arg458Trp)
NM_005876.5(SPEG):c.1374G>A (p.Arg458=)
NM_005876.5(SPEG):c.1380A>C (p.Pro460=)
NM_005876.5(SPEG):c.1385G>C (p.Ser462Thr) rs1469482820
NM_005876.5(SPEG):c.1397G>T (p.Arg466Leu)
NM_005876.5(SPEG):c.139C>A (p.Arg47=)
NM_005876.5(SPEG):c.1402C>T (p.Arg468Cys) rs759048169
NM_005876.5(SPEG):c.1403G>A (p.Arg468His) rs778507387
NM_005876.5(SPEG):c.1428G>T (p.Ser476=) rs1438612581
NM_005876.5(SPEG):c.1435G>C (p.Glu479Gln)
NM_005876.5(SPEG):c.143C>T (p.Pro48Leu)
NM_005876.5(SPEG):c.1451G>A (p.Arg484His)
NM_005876.5(SPEG):c.1451G>C (p.Arg484Pro)
NM_005876.5(SPEG):c.1452C>T (p.Arg484=)
NM_005876.5(SPEG):c.1457C>G (p.Pro486Arg)
NM_005876.5(SPEG):c.1458G>A (p.Pro486=)
NM_005876.5(SPEG):c.1461C>G (p.Ala487=) rs2125283454
NM_005876.5(SPEG):c.1463C>T (p.Ser488Leu) rs2125283470
NM_005876.5(SPEG):c.1468C>T (p.Leu490Phe) rs1336580262
NM_005876.5(SPEG):c.1470C>G (p.Leu490=)
NM_005876.5(SPEG):c.1489G>A (p.Glu497Lys)
NM_005876.5(SPEG):c.1492C>A (p.Leu498Met)
NM_005876.5(SPEG):c.1498C>A (p.Arg500Ser)
NM_005876.5(SPEG):c.14G>A (p.Arg5Gln)
NM_005876.5(SPEG):c.1514C>T (p.Thr505Met)
NM_005876.5(SPEG):c.1515G>A (p.Thr505=) rs1278739495
NM_005876.5(SPEG):c.1524G>A (p.Glu508=)
NM_005876.5(SPEG):c.1533G>A (p.Val511=)
NM_005876.5(SPEG):c.1536C>T (p.Arg512=) rs1356792103
NM_005876.5(SPEG):c.1540C>T (p.His514Tyr) rs998907013
NM_005876.5(SPEG):c.1541A>C (p.His514Pro)
NM_005876.5(SPEG):c.1545G>A (p.Glu515=)
NM_005876.5(SPEG):c.1546T>A (p.Ser516Thr)
NM_005876.5(SPEG):c.1548C>T (p.Ser516=)
NM_005876.5(SPEG):c.1554C>T (p.Arg518=)
NM_005876.5(SPEG):c.1562T>C (p.Leu521Pro)
NM_005876.5(SPEG):c.1567C>T (p.Arg523Cys) rs1689509296
NM_005876.5(SPEG):c.1572C>T (p.Ala524=) rs1575058227
NM_005876.5(SPEG):c.1591G>T (p.Gly531Cys)
NM_005876.5(SPEG):c.1594G>A (p.Glu532Lys)
NM_005876.5(SPEG):c.1601C>T (p.Pro534Leu)
NM_005876.5(SPEG):c.1614G>A (p.Arg538=)
NM_005876.5(SPEG):c.1615C>T (p.Pro539Ser)
NM_005876.5(SPEG):c.1623C>T (p.Thr541=) rs1689513638
NM_005876.5(SPEG):c.1625C>A (p.Pro542His) rs927960851
NM_005876.5(SPEG):c.1625C>G (p.Pro542Arg)
NM_005876.5(SPEG):c.1629G>A (p.Lys543=)
NM_005876.5(SPEG):c.162G>T (p.Val54=)
NM_005876.5(SPEG):c.1631C>T (p.Thr544Ile)
NM_005876.5(SPEG):c.1648C>T (p.Pro550Ser) rs1282426087
NM_005876.5(SPEG):c.1653C>T (p.Ala551=)
NM_005876.5(SPEG):c.1666C>G (p.Pro556Ala)
NM_005876.5(SPEG):c.166G>A (p.Ala56Thr)
NM_005876.5(SPEG):c.1679G>A (p.Ser560Asn)
NM_005876.5(SPEG):c.1683G>A (p.Ala561=)
NM_005876.5(SPEG):c.1683G>C (p.Ala561=)
NM_005876.5(SPEG):c.1688A>G (p.Lys563Arg) rs1454784472
NM_005876.5(SPEG):c.168G>A (p.Ala56=)
NM_005876.5(SPEG):c.1695G>C (p.Gly565=)
NM_005876.5(SPEG):c.1702C>G (p.Pro568Ala)
NM_005876.5(SPEG):c.1704T>G (p.Pro568=)
NM_005876.5(SPEG):c.1711C>A (p.Pro571Thr)
NM_005876.5(SPEG):c.1714A>C (p.Arg572=)
NM_005876.5(SPEG):c.1728G>T (p.Pro576=) rs1043894925
NM_005876.5(SPEG):c.1730C>A (p.Ala577Glu)
NM_005876.5(SPEG):c.1743G>A (p.Glu581=)
NM_005876.5(SPEG):c.1749G>A (p.Gly583=)
NM_005876.5(SPEG):c.1758G>A (p.Pro586=) rs1200560742
NM_005876.5(SPEG):c.1767G>A (p.Glu589=)
NM_005876.5(SPEG):c.1777C>A (p.Arg593=)
NM_005876.5(SPEG):c.178G>T (p.Val60Leu) rs561515444
NM_005876.5(SPEG):c.1791G>A (p.Pro597=) rs1393345990
NM_005876.5(SPEG):c.1791G>C (p.Pro597=)
NM_005876.5(SPEG):c.1814A>G (p.Gln605Arg)
NM_005876.5(SPEG):c.1830T>C (p.Pro610=) rs750377795
NM_005876.5(SPEG):c.1841C>A (p.Pro614His) rs546598705
NM_005876.5(SPEG):c.1841C>T (p.Pro614Leu) rs546598705
NM_005876.5(SPEG):c.1848C>T (p.Ala616=)
NM_005876.5(SPEG):c.1867A>G (p.Thr623Ala)
NM_005876.5(SPEG):c.1878C>A (p.Pro626=)
NM_005876.5(SPEG):c.1897C>T (p.Pro633Ser)
NM_005876.5(SPEG):c.1901C>G (p.Pro634Arg)
NM_005876.5(SPEG):c.1912G>A (p.Val638Met)
NM_005876.5(SPEG):c.1916G>A (p.Arg639His)
NM_005876.5(SPEG):c.1917C>G (p.Arg639=) rs2125287414
NM_005876.5(SPEG):c.1923G>C (p.Leu641=)
NM_005876.5(SPEG):c.1925_1926dup (p.Trp643fs)
NM_005876.5(SPEG):c.1928G>C (p.Trp643Ser)
NM_005876.5(SPEG):c.1935G>A (p.Thr645=)
NM_005876.5(SPEG):c.1941C>T (p.Gly647=) rs2125287590
NM_005876.5(SPEG):c.1942C>T (p.Leu648=)
NM_005876.5(SPEG):c.1963C>A (p.Gln655Lys)
NM_005876.5(SPEG):c.1989G>T (p.Gly663=)
NM_005876.5(SPEG):c.2017G>T (p.Gly673Trp)
NM_005876.5(SPEG):c.2019G>A (p.Gly673=)
NM_005876.5(SPEG):c.2021C>G (p.Pro674Arg)
NM_005876.5(SPEG):c.2021C>T (p.Pro674Leu)
NM_005876.5(SPEG):c.2022G>A (p.Pro674=)
NM_005876.5(SPEG):c.202_207del (p.Gly68_Thr69del)
NM_005876.5(SPEG):c.2043G>T (p.Gly681=)
NM_005876.5(SPEG):c.2055C>A (p.Arg685=)
NM_005876.5(SPEG):c.2061G>T (p.Gly687=)
NM_005876.5(SPEG):c.2071C>T (p.Gln691Ter) rs2125288672
NM_005876.5(SPEG):c.2088G>C (p.Arg696=) rs1575060002
NM_005876.5(SPEG):c.2092C>T (p.Arg698Trp) rs1338333656
NM_005876.5(SPEG):c.2112C>T (p.Leu704=) rs902646265
NM_005876.5(SPEG):c.2113+14G>A
NM_005876.5(SPEG):c.2113+17_2113+27del rs972474371
NM_005876.5(SPEG):c.2113+18G>A
NM_005876.5(SPEG):c.2113+18G>T
NM_005876.5(SPEG):c.2114-15T>C
NM_005876.5(SPEG):c.2114-6C>T
NM_005876.5(SPEG):c.2121G>T (p.Ser707=)
NM_005876.5(SPEG):c.2135T>C (p.Val712Ala)
NM_005876.5(SPEG):c.2142T>C (p.Ala714=) rs2125305120
NM_005876.5(SPEG):c.2152C>G (p.Pro718Ala) rs2125305150
NM_005876.5(SPEG):c.2208G>A (p.Gly736=)
NM_005876.5(SPEG):c.2213A>G (p.Asp738Gly) rs777544998
NM_005876.5(SPEG):c.2230A>G (p.Ile744Val)
NM_005876.5(SPEG):c.2235C>T (p.Ile745=)
NM_005876.5(SPEG):c.2245C>T (p.Pro749Ser)
NM_005876.5(SPEG):c.2251C>T (p.Pro751Ser)
NM_005876.5(SPEG):c.2252C>T (p.Pro751Leu)
NM_005876.5(SPEG):c.2257+16G>A
NM_005876.5(SPEG):c.2258-16del
NM_005876.5(SPEG):c.2258-5C>A
NM_005876.5(SPEG):c.2261C>T (p.Ser754Phe)
NM_005876.5(SPEG):c.2280A>T (p.Ser760=)
NM_005876.5(SPEG):c.2283G>A (p.Ala761=)
NM_005876.5(SPEG):c.2286G>A (p.Leu762=) rs910285259
NM_005876.5(SPEG):c.2302C>T (p.Leu768Phe)
NM_005876.5(SPEG):c.2307C>T (p.Leu769=)
NM_005876.5(SPEG):c.2312G>C (p.Arg771Pro)
NM_005876.5(SPEG):c.2321G>A (p.Gly774Asp)
NM_005876.5(SPEG):c.2326C>T (p.Arg776Trp)
NM_005876.5(SPEG):c.2327G>A (p.Arg776Gln)
NM_005876.5(SPEG):c.2370G>A (p.Gly790=)
NM_005876.5(SPEG):c.2386G>A (p.Ala796Thr) rs775824354
NM_005876.5(SPEG):c.2393A>G (p.Asn798Ser)
NM_005876.5(SPEG):c.2394C>T (p.Asn798=)
NM_005876.5(SPEG):c.2408C>T (p.Ala803Val) rs374412707
NM_005876.5(SPEG):c.2418C>T (p.Ala806=)
NM_005876.5(SPEG):c.2430C>T (p.Thr810=)
NM_005876.5(SPEG):c.2440+17C>T
NM_005876.5(SPEG):c.2440+18C>G
NM_005876.5(SPEG):c.2440+4G>A
NM_005876.5(SPEG):c.2440+8G>A
NM_005876.5(SPEG):c.2441-5T>C
NM_005876.5(SPEG):c.2454C>A (p.Ser818=)
NM_005876.5(SPEG):c.2466C>T (p.Ser822=)
NM_005876.5(SPEG):c.2478C>T (p.Ser826=)
NM_005876.5(SPEG):c.2479G>A (p.Asp827Asn)
NM_005876.5(SPEG):c.2481C>T (p.Asp827=)
NM_005876.5(SPEG):c.2499C>T (p.Pro833=)
NM_005876.5(SPEG):c.249G>A (p.Leu83=)
NM_005876.5(SPEG):c.2509T>A (p.Phe837Ile)
NM_005876.5(SPEG):c.2511C>T (p.Phe837=)
NM_005876.5(SPEG):c.2514A>C (p.Pro838=)
NM_005876.5(SPEG):c.252C>T (p.Pro84=)
NM_005876.5(SPEG):c.2541C>T (p.Thr847=) rs2125401753
NM_005876.5(SPEG):c.2572C>A (p.Arg858Ser) rs199582765
NM_005876.5(SPEG):c.2573G>A (p.Arg858His)
NM_005876.5(SPEG):c.2576G>A (p.Arg859His)
NM_005876.5(SPEG):c.2584G>C (p.Asp862His)
NM_005876.5(SPEG):c.258G>A (p.Pro86=)
NM_005876.5(SPEG):c.2597A>G (p.Lys866Arg)
NM_005876.5(SPEG):c.259_260delinsTG (p.Ala87Cys) rs2125183646
NM_005876.5(SPEG):c.2602C>G (p.Pro868Ala)
NM_005876.5(SPEG):c.2607C>A (p.Pro869=)
NM_005876.5(SPEG):c.260C>T (p.Ala87Val) rs777665655
NM_005876.5(SPEG):c.2616+6del rs767298225
NM_005876.5(SPEG):c.2617-11A>G
NM_005876.5(SPEG):c.2617-6C>T
NM_005876.5(SPEG):c.2617-8C>T
NM_005876.5(SPEG):c.2617-8_2617-6dup
NM_005876.5(SPEG):c.2619C>G (p.Val873=) rs766424623
NM_005876.5(SPEG):c.2621C>T (p.Ser874Leu) rs2125404930
NM_005876.5(SPEG):c.264C>T (p.Pro88=) rs911436001
NM_005876.5(SPEG):c.2658C>T (p.Val886=)
NM_005876.5(SPEG):c.2683G>A (p.Glu895Lys)
NM_005876.5(SPEG):c.2705+12C>T
NM_005876.5(SPEG):c.2705+16T>C
NM_005876.5(SPEG):c.2726T>C (p.Val909Ala)
NM_005876.5(SPEG):c.273C>T (p.Ser91=)
NM_005876.5(SPEG):c.2741G>A (p.Arg914Gln)
NM_005876.5(SPEG):c.2751G>A (p.Ala917=)
NM_005876.5(SPEG):c.2754G>A (p.Glu918=)
NM_005876.5(SPEG):c.277C>T (p.Leu93=)
NM_005876.5(SPEG):c.2782C>T (p.Arg928Trp)
NM_005876.5(SPEG):c.27C>A (p.Gly9=)
NM_005876.5(SPEG):c.2800C>T (p.Arg934Cys) rs34398769
NM_005876.5(SPEG):c.2805C>T (p.Gly935=)
NM_005876.5(SPEG):c.2827A>G (p.Lys943Glu)
NM_005876.5(SPEG):c.2862G>A (p.Glu954=)
NM_005876.5(SPEG):c.2866C>T (p.Arg956Cys)
NM_005876.5(SPEG):c.2874G>A (p.Glu958=)
NM_005876.5(SPEG):c.2878C>T (p.Arg960Ter)
NM_005876.5(SPEG):c.2882-1250_2882-1243del rs765343121
NM_005876.5(SPEG):c.2882-16G>A
NM_005876.5(SPEG):c.2882-20C>T
NM_005876.5(SPEG):c.2896C>G (p.Arg966Gly) rs766307838
NM_005876.5(SPEG):c.2900C>T (p.Ser967Phe)
NM_005876.5(SPEG):c.2907C>T (p.Ala969=)
NM_005876.5(SPEG):c.2916C>A (p.Ala972=)
NM_005876.5(SPEG):c.2916C>T (p.Ala972=)
NM_005876.5(SPEG):c.2922G>A (p.Leu974=)
NM_005876.5(SPEG):c.2928C>T (p.Asp976=)
NM_005876.5(SPEG):c.2931G>A (p.Val977=)
NM_005876.5(SPEG):c.2934C>T (p.Asp978=) rs1480556435
NM_005876.5(SPEG):c.294C>T (p.Cys98=)
NM_005876.5(SPEG):c.2950A>C (p.Met984Leu) rs761482847
NM_005876.5(SPEG):c.2973G>A (p.Val991=)
NM_005876.5(SPEG):c.2989G>T (p.Val997Leu) rs1359313092
NM_005876.5(SPEG):c.3010C>T (p.Arg1004Cys)
NM_005876.5(SPEG):c.3022C>T (p.Leu1008=)
NM_005876.5(SPEG):c.3033A>G (p.Ala1011=)
NM_005876.5(SPEG):c.3051G>A (p.Met1017Ile)
NM_005876.5(SPEG):c.3068A>G (p.Lys1023Arg)
NM_005876.5(SPEG):c.3081A>G (p.Leu1027=)
NM_005876.5(SPEG):c.309C>T (p.Ala103=)
NM_005876.5(SPEG):c.313G>A (p.Val105Met)
NM_005876.5(SPEG):c.3142+10C>T rs2125457334
NM_005876.5(SPEG):c.3142+14del
NM_005876.5(SPEG):c.3142+19A>G
NM_005876.5(SPEG):c.3143-15C>A rs760867760
NM_005876.5(SPEG):c.3143-16G>T
NM_005876.5(SPEG):c.3176G>A (p.Arg1059Gln) rs572860871
NM_005876.5(SPEG):c.3183G>A (p.Ser1061=) rs201812370
NM_005876.5(SPEG):c.3183G>T (p.Ser1061=)
NM_005876.5(SPEG):c.318C>T (p.Tyr106=)
NM_005876.5(SPEG):c.3193C>A (p.Leu1065Met)
NM_005876.5(SPEG):c.3217G>A (p.Val1073Met)
NM_005876.5(SPEG):c.3229G>C (p.Glu1077Gln)
NM_005876.5(SPEG):c.3241G>A (p.Ala1081Thr)
NM_005876.5(SPEG):c.3244C>T (p.Arg1082Cys)
NM_005876.5(SPEG):c.3245G>A (p.Arg1082His)
NM_005876.5(SPEG):c.3249C>T (p.Phe1083=)
NM_005876.5(SPEG):c.325A>C (p.Met109Leu)
NM_005876.5(SPEG):c.3261C>T (p.Ile1087=)
NM_005876.5(SPEG):c.3267C>T (p.Gly1089=)
NM_005876.5(SPEG):c.3272C>T (p.Pro1091Leu) rs1383792209
NM_005876.5(SPEG):c.3273G>A (p.Pro1091=)
NM_005876.5(SPEG):c.3276C>G (p.Pro1092=)
NM_005876.5(SPEG):c.3282T>G (p.Val1094=)
NM_005876.5(SPEG):c.3285T>C (p.Val1095=)
NM_005876.5(SPEG):c.3287C>T (p.Thr1096Ile)
NM_005876.5(SPEG):c.3292A>G (p.Thr1098Ala) rs1691598815
NM_005876.5(SPEG):c.329C>T (p.Ala110Val)
NM_005876.5(SPEG):c.3301+14G>A
NM_005876.5(SPEG):c.3301+5G>T
NM_005876.5(SPEG):c.3302-4G>A
NM_005876.5(SPEG):c.3307_3308delinsGT (p.Pro1103Val) rs2125465084
NM_005876.5(SPEG):c.3311T>C (p.Met1104Thr) rs1416723203
NM_005876.5(SPEG):c.3350G>T (p.Gly1117Val) rs2125465420
NM_005876.5(SPEG):c.3367A>G (p.Ile1123Val)
NM_005876.5(SPEG):c.3379G>A (p.Gly1127Ser) rs2125465586
NM_005876.5(SPEG):c.3405G>A (p.Ala1135=)
NM_005876.5(SPEG):c.3405G>C (p.Ala1135=) rs535424158
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp) rs570323054
NM_005876.5(SPEG):c.3420C>T (p.Asn1140=)
NM_005876.5(SPEG):c.3442T>A (p.Ser1148Thr)
NM_005876.5(SPEG):c.345C>T (p.Gly115=)
NM_005876.5(SPEG):c.3469C>T (p.Arg1157Trp)
NM_005876.5(SPEG):c.3477C>A (p.Ala1159=)
NM_005876.5(SPEG):c.3484G>A (p.Gly1162Ser)
NM_005876.5(SPEG):c.3484_3491+17del
NM_005876.5(SPEG):c.3486C>T (p.Gly1162=)
NM_005876.5(SPEG):c.3491+11G>A
NM_005876.5(SPEG):c.3491+12G>A
NM_005876.5(SPEG):c.3491+3A>G rs2125466366
NM_005876.5(SPEG):c.3491+7C>G
NM_005876.5(SPEG):c.3491+8C>A rs753933802
NM_005876.5(SPEG):c.3492-2dup
NM_005876.5(SPEG):c.3495G>A (p.Ser1165=)
NM_005876.5(SPEG):c.3504G>A (p.Glu1168=)
NM_005876.5(SPEG):c.3534G>C (p.Glu1178Asp) rs757589345
NM_005876.5(SPEG):c.3539G>A (p.Gly1180Asp) rs1691652011
NM_005876.5(SPEG):c.353C>T (p.Ser118Phe)
NM_005876.5(SPEG):c.3549G>A (p.Glu1183=)
NM_005876.5(SPEG):c.3564T>C (p.Pro1188=) rs10167209
NM_005876.5(SPEG):c.3564T>G (p.Pro1188=) rs10167209
NM_005876.5(SPEG):c.356G>C (p.Cys119Ser)
NM_005876.5(SPEG):c.3571C>T (p.Leu1191=)
NM_005876.5(SPEG):c.3576G>T (p.Arg1192=) rs773147309
NM_005876.5(SPEG):c.3577C>T (p.Pro1193Ser) rs1691656078
NM_005876.5(SPEG):c.3596T>G (p.Val1199Gly) rs1575123096
NM_005876.5(SPEG):c.3606C>A (p.Ala1202=)
NM_005876.5(SPEG):c.361G>A (p.Ala121Thr)
NM_005876.5(SPEG):c.3636C>T (p.Thr1212=)
NM_005876.5(SPEG):c.3639C>A (p.Gly1213=)
NM_005876.5(SPEG):c.363G>A (p.Ala121=)
NM_005876.5(SPEG):c.3645C>G (p.Pro1215=) rs374311978
NM_005876.5(SPEG):c.3678C>T (p.His1226=)
NM_005876.5(SPEG):c.3693C>T (p.Ser1231=)
NM_005876.5(SPEG):c.3696C>A (p.Asp1232Glu)
NM_005876.5(SPEG):c.36G>A (p.Ala12=)
NM_005876.5(SPEG):c.3705C>T (p.Arg1235=)
NM_005876.5(SPEG):c.3712C>T (p.Gln1238Ter) rs2125468774
NM_005876.5(SPEG):c.3713A>T (p.Gln1238Leu) rs1691670080
NM_005876.5(SPEG):c.3715+7G>A
NM_005876.5(SPEG):c.3716-7C>T
NM_005876.5(SPEG):c.3716-8C>T
NM_005876.5(SPEG):c.373G>A (p.Val125Met)
NM_005876.5(SPEG):c.3745G>A (p.Ala1249Thr)
NM_005876.5(SPEG):c.3748G>A (p.Val1250Met)
NM_005876.5(SPEG):c.3760C>G (p.His1254Asp)
NM_005876.5(SPEG):c.3766G>A (p.Gly1256Ser) rs1173927707
NM_005876.5(SPEG):c.3780C>T (p.Ser1260=)
NM_005876.5(SPEG):c.3819C>A (p.Ala1273=) rs2125485340
NM_005876.5(SPEG):c.3819C>T (p.Ala1273=)
NM_005876.5(SPEG):c.3835+10G>A
NM_005876.5(SPEG):c.3835+17C>T
NM_005876.5(SPEG):c.3836-10C>T
NM_005876.5(SPEG):c.3836-17C>T
NM_005876.5(SPEG):c.3836-8G>A rs1559401028
NM_005876.5(SPEG):c.383T>C (p.Val128Ala)
NM_005876.5(SPEG):c.3862G>A (p.Ala1288Thr) rs368670007
NM_005876.5(SPEG):c.3866C>T (p.Pro1289Leu)
NM_005876.5(SPEG):c.3867G>A (p.Pro1289=)
NM_005876.5(SPEG):c.3871G>A (p.Val1291Met)
NM_005876.5(SPEG):c.3879T>C (p.Ala1293=)
NM_005876.5(SPEG):c.388+17G>C
NM_005876.5(SPEG):c.389-12C>A
NM_005876.5(SPEG):c.3894G>A (p.Met1298Ile)
NM_005876.5(SPEG):c.3895G>T (p.Val1299Phe)
NM_005876.5(SPEG):c.3903C>T (p.Leu1301=) rs926016506
NM_005876.5(SPEG):c.3915C>T (p.Pro1305=)
NM_005876.5(SPEG):c.3916C>T (p.Pro1306Ser)
NM_005876.5(SPEG):c.3918del (p.Arg1307fs)
NM_005876.5(SPEG):c.3918dup (p.Arg1307fs)
NM_005876.5(SPEG):c.392C>G (p.Ser131Ter)
NM_005876.5(SPEG):c.3940+10G>C rs1575132547
NM_005876.5(SPEG):c.3941-16G>T
NM_005876.5(SPEG):c.3941-5G>A rs200293373
NM_005876.5(SPEG):c.3941-5G>T rs200293373
NM_005876.5(SPEG):c.3941-6C>G rs377296068
NM_005876.5(SPEG):c.3942C>T (p.Asp1314=)
NM_005876.5(SPEG):c.3956C>T (p.Thr1319Met)
NM_005876.5(SPEG):c.3978G>A (p.Val1326=)
NM_005876.5(SPEG):c.3986C>T (p.Ser1329Leu)
NM_005876.5(SPEG):c.3990C>T (p.Asp1330=) rs756680513
NM_005876.5(SPEG):c.399G>A (p.Thr133=)
NM_005876.5(SPEG):c.4001C>A (p.Ala1334Glu) rs756162814
NM_005876.5(SPEG):c.4001C>T (p.Ala1334Val) rs756162814
NM_005876.5(SPEG):c.4006G>T (p.Val1336Phe)
NM_005876.5(SPEG):c.4018C>A (p.Arg1340=)
NM_005876.5(SPEG):c.4025C>T (p.Pro1342Leu)
NM_005876.5(SPEG):c.4029G>A (p.Gly1343=)
NM_005876.5(SPEG):c.4095G>A (p.Lys1365=)
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala) rs200713879
NM_005876.5(SPEG):c.4120T>A (p.Ser1374Thr) rs2125492612
NM_005876.5(SPEG):c.4140G>A (p.Leu1380=)
NM_005876.5(SPEG):c.4147+10G>A
NM_005876.5(SPEG):c.4147+12T>C
NM_005876.5(SPEG):c.4147G>A (p.Gly1383Ser)
NM_005876.5(SPEG):c.4148-17C>G
NM_005876.5(SPEG):c.4148-5C>A
NM_005876.5(SPEG):c.4176G>A (p.Met1392Ile) rs751828180
NM_005876.5(SPEG):c.417C>T (p.Ser139=) rs780134728
NM_005876.5(SPEG):c.4194C>T (p.Ile1398=)
NM_005876.5(SPEG):c.4211G>A (p.Gly1404Glu)
NM_005876.5(SPEG):c.4212A>G (p.Gly1404=)
NM_005876.5(SPEG):c.4224C>A (p.Ser1408Arg) rs1362346842
NM_005876.5(SPEG):c.4224C>T (p.Ser1408=)
NM_005876.5(SPEG):c.4231G>A (p.Val1411Ile)
NM_005876.5(SPEG):c.4233C>A (p.Val1411=)
NM_005876.5(SPEG):c.4233C>T (p.Val1411=)
NM_005876.5(SPEG):c.4242C>A (p.Asn1414Lys)
NM_005876.5(SPEG):c.4244A>G (p.His1415Arg)
NM_005876.5(SPEG):c.4258G>A (p.Val1420Ile)
NM_005876.5(SPEG):c.426G>A (p.Gln142=)
NM_005876.5(SPEG):c.4271+13C>T
NM_005876.5(SPEG):c.4271+16A>G
NM_005876.5(SPEG):c.4271+6C>T
NM_005876.5(SPEG):c.4271+8C>T
NM_005876.5(SPEG):c.4272-16G>A
NM_005876.5(SPEG):c.4276C>G (p.Arg1426Gly)
NM_005876.5(SPEG):c.4283C>A (p.Ala1428Asp)
NM_005876.5(SPEG):c.4297C>A (p.Arg1433=)
NM_005876.5(SPEG):c.4297C>T (p.Arg1433Trp)
NM_005876.5(SPEG):c.4312G>A (p.Glu1438Lys)
NM_005876.5(SPEG):c.4320C>T (p.Ser1440=)
NM_005876.5(SPEG):c.4321C>T (p.Gln1441Ter)
NM_005876.5(SPEG):c.4333G>A (p.Asp1445Asn)
NM_005876.5(SPEG):c.4349G>A (p.Arg1450Gln)
NM_005876.5(SPEG):c.4350del (p.Ile1451fs)
NM_005876.5(SPEG):c.4359G>A (p.Arg1453=) rs1428940593
NM_005876.5(SPEG):c.4365C>G (p.Ser1455Arg) rs1692104491
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
NM_005876.5(SPEG):c.437G>A (p.Arg146His)
NM_005876.5(SPEG):c.438C>T (p.Arg146=)
NM_005876.5(SPEG):c.4395C>T (p.Thr1465=)
NM_005876.5(SPEG):c.4399C>T (p.Arg1467Ter)
NM_005876.5(SPEG):c.4410C>T (p.His1470=)
NM_005876.5(SPEG):c.4419G>T (p.Gln1473His)
NM_005876.5(SPEG):c.4421C>T (p.Thr1474Ile)
NM_005876.5(SPEG):c.4424G>T (p.Cys1475Phe) rs925570785
NM_005876.5(SPEG):c.4428G>T (p.Ser1476=)
NM_005876.5(SPEG):c.4447+15G>A
NM_005876.5(SPEG):c.4448-12C>T
NM_005876.5(SPEG):c.4448-15C>G
NM_005876.5(SPEG):c.4450G>A (p.Ala1484Thr)
NM_005876.5(SPEG):c.4452C>T (p.Ala1484=) rs1692393332
NM_005876.5(SPEG):c.4455T>G (p.Pro1485=)
NM_005876.5(SPEG):c.4476G>A (p.Glu1492=)
NM_005876.5(SPEG):c.4482G>A (p.Val1494=)
NM_005876.5(SPEG):c.4482G>C (p.Val1494=)
NM_005876.5(SPEG):c.4485G>A (p.Glu1495=)
NM_005876.5(SPEG):c.4486G>A (p.Val1496Met) rs1335696919
NM_005876.5(SPEG):c.4488G>A (p.Val1496=)
NM_005876.5(SPEG):c.4489G>T (p.Gly1497Trp)
NM_005876.5(SPEG):c.4515G>A (p.Ala1505=)
NM_005876.5(SPEG):c.4530A>G (p.Gly1510=)
NM_005876.5(SPEG):c.4542G>A (p.Pro1514=)
NM_005876.5(SPEG):c.4542G>C (p.Pro1514=)
NM_005876.5(SPEG):c.4550T>A (p.Met1517Lys)
NM_005876.5(SPEG):c.4551G>A (p.Met1517Ile)
NM_005876.5(SPEG):c.4561-12C>T
NM_005876.5(SPEG):c.4561-61_4561-60insGGGGCCTGGTACAGCGGCT rs376344559
NM_005876.5(SPEG):c.4561-6C>G rs759341758
NM_005876.5(SPEG):c.4569G>C (p.Val1523=)
NM_005876.5(SPEG):c.4569G>T (p.Val1523=)
NM_005876.5(SPEG):c.4578C>T (p.Thr1526=)
NM_005876.5(SPEG):c.457G>A (p.Gly153Arg)
NM_005876.5(SPEG):c.4596C>T (p.Ser1532=) rs2125516532
NM_005876.5(SPEG):c.4605C>T (p.Tyr1535=)
NM_005876.5(SPEG):c.4606G>C (p.Glu1536Gln)
NM_005876.5(SPEG):c.4606GAG[1] (p.Glu1537del)
NM_005876.5(SPEG):c.461C>A (p.Ala154Asp) rs758102466
NM_005876.5(SPEG):c.4620C>G (p.Cys1540Trp)
NM_005876.5(SPEG):c.4640C>T (p.Thr1547Met)
NM_005876.5(SPEG):c.4641G>T (p.Thr1547=)
NM_005876.5(SPEG):c.4645dup (p.Ala1549fs)
NM_005876.5(SPEG):c.4659C>T (p.Gly1553=)
NM_005876.5(SPEG):c.4674C>T (p.Thr1558=)
NM_005876.5(SPEG):c.4683C>T (p.Asn1561=)
NM_005876.5(SPEG):c.4713G>A (p.Glu1571=)
NM_005876.5(SPEG):c.471C>A (p.Thr157=)
NM_005876.5(SPEG):c.4729+12T>C
NM_005876.5(SPEG):c.4730-11C>G
NM_005876.5(SPEG):c.4730-5C>G
NM_005876.5(SPEG):c.4730-5C>T rs2125518638
NM_005876.5(SPEG):c.4735A>C (p.Thr1579Pro)
NM_005876.5(SPEG):c.4736C>T (p.Thr1579Ile)
NM_005876.5(SPEG):c.4741A>G (p.Met1581Val)
NM_005876.5(SPEG):c.4744G>A (p.Glu1582Lys)
NM_005876.5(SPEG):c.4764G>A (p.Glu1588=) rs1174258614
NM_005876.5(SPEG):c.4766A>T (p.Asp1589Val)
NM_005876.5(SPEG):c.478+14G>A
NM_005876.5(SPEG):c.478+5G>A
NM_005876.5(SPEG):c.478+8C>A
NM_005876.5(SPEG):c.479-18C>T
NM_005876.5(SPEG):c.4806C>T (p.Asp1602=)
NM_005876.5(SPEG):c.4821C>T (p.Ile1607=)
NM_005876.5(SPEG):c.4826+15G>C
NM_005876.5(SPEG):c.4826+2_4826+7dup rs2125519188
NM_005876.5(SPEG):c.4826+3G>A rs1692484712
NM_005876.5(SPEG):c.4826+8G>A rs765897715
NM_005876.5(SPEG):c.4827-16T>G
NM_005876.5(SPEG):c.4827-9G>A
NM_005876.5(SPEG):c.4845G>A (p.Leu1615=)
NM_005876.5(SPEG):c.4846C>T (p.Arg1616Trp)
NM_005876.5(SPEG):c.4869C>T (p.Ser1623=)
NM_005876.5(SPEG):c.4870G>A (p.Gly1624Ser) rs748367615
NM_005876.5(SPEG):c.4878G>A (p.Glu1626=)
NM_005876.5(SPEG):c.4886C>T (p.Ala1629Val) rs2125520443
NM_005876.5(SPEG):c.4911G>A (p.Lys1637=)
NM_005876.5(SPEG):c.491C>T (p.Thr164Ile)
NM_005876.5(SPEG):c.4922_4943del (p.Ser1641fs)
NM_005876.5(SPEG):c.4926G>A (p.Ala1642=)
NM_005876.5(SPEG):c.4927C>A (p.Arg1643Ser)
NM_005876.5(SPEG):c.4928G>A (p.Arg1643His) rs79987208
NM_005876.5(SPEG):c.4928G>T (p.Arg1643Leu) rs79987208
NM_005876.5(SPEG):c.4940G>A (p.Arg1647Gln)
NM_005876.5(SPEG):c.4944G>C (p.Leu1648=)
NM_005876.5(SPEG):c.4956C>T (p.Leu1652=)
NM_005876.5(SPEG):c.4962C>T (p.His1654=)
NM_005876.5(SPEG):c.4986G>A (p.Glu1662=)
NM_005876.5(SPEG):c.4999C>G (p.Arg1667Gly) rs149716323
NM_005876.5(SPEG):c.4999C>T (p.Arg1667Cys) rs149716323
NM_005876.5(SPEG):c.5000G>A (p.Arg1667His)
NM_005876.5(SPEG):c.5002C>T (p.Arg1668Trp)
NM_005876.5(SPEG):c.5010G>A (p.Leu1670=)
NM_005876.5(SPEG):c.5023G>C (p.Glu1675Gln)
NM_005876.5(SPEG):c.5027+11A>T rs2125521082
NM_005876.5(SPEG):c.5027+14G>C rs370412256
NM_005876.5(SPEG):c.5027+17T>G rs1213157317
NM_005876.5(SPEG):c.5027+19G>A
NM_005876.5(SPEG):c.5027+7T>A
NM_005876.5(SPEG):c.5027+7T>C
NM_005876.5(SPEG):c.5028-18C>T rs1310689214
NM_005876.5(SPEG):c.5028-20C>A
NM_005876.5(SPEG):c.5036A>G (p.Glu1679Gly)
NM_005876.5(SPEG):c.5040G>A (p.Glu1680=) rs1692604929
NM_005876.5(SPEG):c.5055C>A (p.Ile1685=)
NM_005876.5(SPEG):c.5064A>G (p.Lys1688=)
NM_005876.5(SPEG):c.5070C>A (p.Thr1690=) rs780483131
NM_005876.5(SPEG):c.5086-17G>A rs2125529649
NM_005876.5(SPEG):c.5101C>T (p.Arg1701Trp)
NM_005876.5(SPEG):c.5142C>G (p.His1714Gln) rs368444908
NM_005876.5(SPEG):c.5148G>T (p.Leu1716=) rs771611757
NM_005876.5(SPEG):c.5154C>T (p.Leu1718=)
NM_005876.5(SPEG):c.5164-14del rs745336583
NM_005876.5(SPEG):c.5164-4C>G
NM_005876.5(SPEG):c.5179G>A (p.Val1727Met) rs1488588757
NM_005876.5(SPEG):c.5193T>C (p.Ala1731=)
NM_005876.5(SPEG):c.5196G>C (p.Ala1732=)
NM_005876.5(SPEG):c.5196G>T (p.Ala1732=)
NM_005876.5(SPEG):c.5199C>T (p.Gly1733=)
NM_005876.5(SPEG):c.51C>T (p.Pro17=)
NM_005876.5(SPEG):c.5211G>A (p.Val1737=)
NM_005876.5(SPEG):c.5281C>T (p.Pro1761Ser) rs2125531474
NM_005876.5(SPEG):c.528C>T (p.Ser176=)
NM_005876.5(SPEG):c.5315G>A (p.Ser1772Asn) rs1334266382
NM_005876.5(SPEG):c.5322G>T (p.Val1774=) rs534525374
NM_005876.5(SPEG):c.5342+10G>T
NM_005876.5(SPEG):c.5343-4A>T
NM_005876.5(SPEG):c.5349G>C (p.Val1783=)
NM_005876.5(SPEG):c.5358T>C (p.Val1786=)
NM_005876.5(SPEG):c.5369+55T>A rs56928189
NM_005876.5(SPEG):c.5370-7C>T
NM_005876.5(SPEG):c.5371C>G (p.Leu1791Val) rs1553616554
NM_005876.5(SPEG):c.5407C>A (p.Arg1803=) rs752525431
NM_005876.5(SPEG):c.5412A>G (p.Thr1804=)
NM_005876.5(SPEG):c.5416T>C (p.Leu1806=)
NM_005876.5(SPEG):c.5433C>T (p.Asn1811=)
NM_005876.5(SPEG):c.5439C>T (p.Asn1813=)
NM_005876.5(SPEG):c.5449G>A (p.Glu1817Lys)
NM_005876.5(SPEG):c.5460A>G (p.Thr1820=)
NM_005876.5(SPEG):c.5481G>A (p.Glu1827=)
NM_005876.5(SPEG):c.5485C>T (p.Arg1829Trp)
NM_005876.5(SPEG):c.5499C>T (p.Ile1833=)
NM_005876.5(SPEG):c.5512C>T (p.Gln1838Ter)
NM_005876.5(SPEG):c.5522+16T>A
NM_005876.5(SPEG):c.5522+7A>G
NM_005876.5(SPEG):c.5523-15C>G
NM_005876.5(SPEG):c.5523-15C>T
NM_005876.5(SPEG):c.5523-16C>A
NM_005876.5(SPEG):c.5532C>T (p.Thr1844=)
NM_005876.5(SPEG):c.5548G>C (p.Glu1850Gln) rs377029891
NM_005876.5(SPEG):c.5565+7C>T rs763796363
NM_005876.5(SPEG):c.5565+9A>G
NM_005876.5(SPEG):c.569G>A (p.Ser190Asn)
NM_005876.5(SPEG):c.579G>A (p.Thr193=)
NM_005876.5(SPEG):c.580G>A (p.Val194Ile)
NM_005876.5(SPEG):c.592G>A (p.Glu198Lys) rs371146997
NM_005876.5(SPEG):c.610G>A (p.Gly204Ser)
NM_005876.5(SPEG):c.626C>G (p.Pro209Arg) rs773788051
NM_005876.5(SPEG):c.626C>T (p.Pro209Leu)
NM_005876.5(SPEG):c.627G>A (p.Pro209=)
NM_005876.5(SPEG):c.633C>T (p.Ser211=) rs2125248372
NM_005876.5(SPEG):c.654C>A (p.Thr218=) rs759081809
NM_005876.5(SPEG):c.660C>T (p.Ala220=)
NM_005876.5(SPEG):c.678G>A (p.Gly226=) rs1575044793
NM_005876.5(SPEG):c.684G>A (p.Glu228=)
NM_005876.5(SPEG):c.687G>C (p.Pro229=)
NM_005876.5(SPEG):c.690G>T (p.Leu230=)
NM_005876.5(SPEG):c.71C>A (p.Pro24Gln)
NM_005876.5(SPEG):c.720C>T (p.Gly240=)
NM_005876.5(SPEG):c.7216G>A (p.Val2406Ile)
NM_005876.5(SPEG):c.721G>A (p.Ala241Thr)
NM_005876.5(SPEG):c.725G>A (p.Ser242Asn) rs2125249172
NM_005876.5(SPEG):c.738G>T (p.Glu246Asp)
NM_005876.5(SPEG):c.745C>T (p.Leu249Phe)
NM_005876.5(SPEG):c.750C>T (p.Ser250=)
NM_005876.5(SPEG):c.751G>A (p.Val251Met)
NM_005876.5(SPEG):c.774C>T (p.Ser258=)
NM_005876.5(SPEG):c.775G>A (p.Ala259Thr)
NM_005876.5(SPEG):c.777A>T (p.Ala259=) rs1575045157
NM_005876.5(SPEG):c.796C>T (p.Arg266Trp)
NM_005876.5(SPEG):c.797G>A (p.Arg266Gln) rs1337575763
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu) rs762057369
NM_005876.5(SPEG):c.815+10G>A
NM_005876.5(SPEG):c.815+15T>C
NM_005876.5(SPEG):c.816-10G>C
NM_005876.5(SPEG):c.818G>A (p.Ser273Asn)
NM_005876.5(SPEG):c.820G>A (p.Val274Ile)
NM_005876.5(SPEG):c.827A>C (p.Gln276Pro)
NM_005876.5(SPEG):c.834G>C (p.Gly278=)
NM_005876.5(SPEG):c.86T>C (p.Val29Ala)
NM_005876.5(SPEG):c.872C>G (p.Ala291Gly)
NM_005876.5(SPEG):c.886C>A (p.Arg296Ser)
NM_005876.5(SPEG):c.901C>A (p.Pro301Thr) rs2125278749
NM_005876.5(SPEG):c.907C>G (p.Pro303Ala)
NM_005876.5(SPEG):c.908C>T (p.Pro303Leu) rs1689449711
NM_005876.5(SPEG):c.919G>A (p.Ala307Thr)
NM_005876.5(SPEG):c.928C>G (p.Pro310Ala) rs995721091
NM_005876.5(SPEG):c.92C>A (p.Ala31Asp)
NM_005876.5(SPEG):c.932C>G (p.Pro311Arg)
NM_005876.5(SPEG):c.935C>T (p.Pro312Leu)
NM_005876.5(SPEG):c.936G>A (p.Pro312=)
NM_005876.5(SPEG):c.93C>T (p.Ala31=)
NM_005876.5(SPEG):c.948C>T (p.Val316=)
NM_005876.5(SPEG):c.949G>A (p.Gly317Arg)
NM_005876.5(SPEG):c.975G>A (p.Pro325=)
NM_005876.5(SPEG):c.978C>T (p.Ala326=)
NM_005876.5(SPEG):c.993C>G (p.Thr331=)
NM_005876.5(SPEG):c.995C>T (p.Pro332Leu)
NM_005876.5(SPEG):c.997A>G (p.Thr333Ala)

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