ClinVar Miner

List of variants in gene GAA studied for Glycogen storage disease, type II

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2691
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.79734
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72227
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.72050
NM_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_000152.5(GAA):c.1551+49C>A rs2304843 0.66585
NM_000152.5(GAA):c.547-39T>G rs12452721 0.65710
NM_000152.5(GAA):c.547-67C>G rs8069491 0.65691
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65654
NM_000152.5(GAA):c.1438-19G>C rs2304844 0.65495
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.1438-108G>A rs12944802 0.65439
NM_000152.5(GAA):c.858+30T>C rs2304845 0.65417
NM_000152.5(GAA):c.1754+144C>T rs2304838 0.60505
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000152.5(GAA):c.1637-185A>G rs12951255 0.55253
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_000152.5(GAA):c.*223C>T rs8132 0.22255
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000152.5(GAA):c.*419G>T rs7567 0.19631
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.14320
NM_000152.5(GAA):c.*91G>A rs2229221 0.11776
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_000152.5(GAA):c.*139dup rs865903736 0.10981
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_000152.5(GAA):c.693-49C>T rs78855075 0.09045
NM_000152.5(GAA):c.2040+66C>T rs2304835 0.06422
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06223
NM_000152.5(GAA):c.2040+69A>G rs2304834 0.06010
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_000152.5(GAA):c.1636+43G>T rs2304842 0.05728
NM_000152.5(GAA):c.*3G>A rs1800317 0.05534
NM_000152.5(GAA):c.1888+21G>A rs2304837 0.05276
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04394
NM_000152.5(GAA):c.2189+95C>T rs72850840 0.04369
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04283
NM_000152.5(GAA):c.1754+104C>G rs2304839 0.04194
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00616
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00446
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00380
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000152.5(GAA):c.1438-32G>A rs199897967 0.00320
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000152.5(GAA):c.*521A>G rs142506588 0.00241
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00240
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00162
NM_000152.5(GAA):c.-116C>T rs190152638 0.00153
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00143
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00133
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00115
NM_000152.5(GAA):c.*288G>T rs568131293 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000152.5(GAA):c.*443G>A rs147801821 0.00090
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00089
NM_000152.5(GAA):c.1755-18T>C rs201399518 0.00082
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00077
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00058
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_000152.5(GAA):c.1438-9G>A rs202211401 0.00051
NM_000152.5(GAA):c.859-18G>A rs377222482 0.00046
NM_000152.5(GAA):c.*64G>T rs187532717 0.00038
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00036
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00035
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00034
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00031
NM_000152.5(GAA):c.1754+11C>T rs371644603 0.00030
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791 0.00027
NM_000152.5(GAA):c.*98A>T rs886053548 0.00026
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_000152.5(GAA):c.2040+17G>A rs534129336 0.00025
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480 0.00024
NM_000152.5(GAA):c.1552-14C>T rs199715011 0.00024
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222 0.00021
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00021
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956 0.00020
NM_000152.5(GAA):c.2751C>T (p.Leu917=) rs146507838 0.00020
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904 0.00018
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00018
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00018
NM_000152.5(GAA):c.*310C>T rs550314730 0.00017
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000152.5(GAA):c.2274C>T (p.Ala758=) rs150431943 0.00016
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00016
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250 0.00015
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00015
NM_000152.5(GAA):c.2799+19G>A rs558187268 0.00015
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915 0.00015
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.1888+5G>T rs528282884 0.00014
NM_000152.5(GAA):c.*2C>T rs761162129 0.00013
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00013
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871 0.00013
NM_000152.5(GAA):c.546+3G>A rs371405931 0.00013
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002 0.00012
NM_000152.5(GAA):c.1755-7A>G rs781539108 0.00012
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 0.00012
NM_000152.5(GAA):c.1872C>T (p.Leu624=) rs373103422 0.00011
NM_000152.5(GAA):c.2331+11G>C rs376709495 0.00011
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874 0.00011
NM_000152.5(GAA):c.-62A>C rs367731841 0.00010
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) rs550065979 0.00010
NM_000152.5(GAA):c.1637-12C>T rs374923144 0.00010
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) rs149916476 0.00010
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) rs140376273 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000152.5(GAA):c.2482-18G>A rs757911622 0.00010
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849 0.00010
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830 0.00010
NM_000152.5(GAA):c.1076-16C>T rs367704731 0.00009
NM_000152.5(GAA):c.1302C>T (p.Gly434=) rs752231775 0.00009
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.1754+21C>T rs373387713 0.00009
NM_000152.5(GAA):c.1818C>T (p.His606=) rs374368644 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) rs747150907 0.00009
NM_000152.5(GAA):c.858+15G>A rs754760986 0.00009
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987 0.00009
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.2041-4G>T rs775757700 0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00008
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00008
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00008
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1194+19dup rs758405468 0.00007
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00007
NM_000152.5(GAA):c.1636+8C>T rs572293131 0.00007
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00007
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000152.5(GAA):c.2189+10C>T rs750905127 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449 0.00006
NM_000152.5(GAA):c.1195-15G>A rs373840229 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00006
NM_000152.5(GAA):c.1754+17G>A rs769797291 0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) rs560661191 0.00006
NM_000152.5(GAA):c.43G>A (p.Val15Ile) rs772157487 0.00006
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00006
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198 0.00006
NM_000152.5(GAA):c.693-5C>T rs763538104 0.00006
NM_000152.5(GAA):c.858+24G>C rs770608668 0.00006
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000152.5(GAA):c.*264G>A rs1219851042 0.00005
NM_000152.5(GAA):c.1075+20C>T rs370379513 0.00005
NM_000152.5(GAA):c.1075+9T>C rs751918816 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491 0.00005
NM_000152.5(GAA):c.1437+19G>A rs746904197 0.00005
NM_000152.5(GAA):c.1437+20G>C rs768737799 0.00005
NM_000152.5(GAA):c.1488G>A (p.Leu496=) rs750777002 0.00005
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00005
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098 0.00005
NM_000152.5(GAA):c.2040+16C>T rs573522544 0.00005
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938 0.00005
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00005
NM_000152.5(GAA):c.2481+15C>T rs771155956 0.00005
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519 0.00005
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041 0.00005
NM_000152.5(GAA):c.2672G>A (p.Arg891His) rs199524847 0.00005
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065 0.00005
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773 0.00005
NM_000152.5(GAA):c.546+17C>T rs529918753 0.00005
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00005
NM_000152.5(GAA):c.858+18G>A rs747775111 0.00005
NM_000152.5(GAA):c.955+15G>A rs778687044 0.00005
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944 0.00004
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520 0.00004
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077 0.00004
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034 0.00004
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1491C>T (p.Ala497=) rs373993015 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1710C>T (p.Asn570=) rs765362308 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.196C>T (p.Arg66Trp) rs371971763 0.00004
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016 0.00004
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009 0.00004
NM_000152.5(GAA):c.246C>T (p.Cys82=) rs749584846 0.00004
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374 0.00004
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn) rs372604133 0.00004
NM_000152.5(GAA):c.2647-6G>T rs201525743 0.00004
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420 0.00004
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) rs777473001 0.00004
NM_000152.5(GAA):c.618C>T (p.Ser206=) rs146292898 0.00004
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) rs201286896 0.00004
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000152.5(GAA):c.858+17C>T rs371980868 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000152.5(GAA):c.912C>T (p.Gly304=) rs368741815 0.00004
NM_000152.5(GAA):c.-32-5C>T rs775682001 0.00003
NM_000152.5(GAA):c.1059G>A (p.Gln353=) rs376146090 0.00003
NM_000152.5(GAA):c.1075+12T>G rs370842677 0.00003
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) rs752002666 0.00003
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988 0.00003
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385 0.00003
NM_000152.5(GAA):c.1275G>A (p.Pro425=) rs762826072 0.00003
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900 0.00003
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys) rs189402693 0.00003
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) rs201409613 0.00003
NM_000152.5(GAA):c.1437+8G>A rs779194427 0.00003
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190 0.00003
NM_000152.5(GAA):c.1661C>T (p.Ala554Val) rs772260861 0.00003
NM_000152.5(GAA):c.1754+16C>T rs369836797 0.00003
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) rs528010457 0.00003
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180 0.00003
NM_000152.5(GAA):c.1803G>A (p.Ser601=) rs368993048 0.00003
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) rs940955642 0.00003
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 0.00003
NM_000152.5(GAA):c.1929G>A (p.Gly643=) rs371096565 0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) rs752735168 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073 0.00003
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693 0.00003
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) rs201485261 0.00003
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) rs539031621 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) rs747076541 0.00003
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733 0.00003
NM_000152.5(GAA):c.2757C>T (p.Asn919=) rs766916186 0.00003
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198 0.00003
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) rs142481170 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.292A>T (p.Ile98Phe) rs745963730 0.00003
NM_000152.5(GAA):c.309C>T (p.Cys103=) rs373307393 0.00003
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) rs151323405 0.00003
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) rs772394815 0.00003
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 0.00003
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) rs762255493 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.546+4G>C rs550618589 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.610G>A (p.Ala204Thr) rs780799275 0.00003
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432 0.00003
NM_000152.5(GAA):c.69C>T (p.Thr23=) rs746351336 0.00003
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys) rs200509552 0.00003
NM_000152.5(GAA):c.855C>A (p.Pro285=) rs754080080 0.00003
NM_000152.5(GAA):c.867G>A (p.Ala289=) rs534515557 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000152.5(GAA):c.955+14C>A rs756921041 0.00003
NM_000152.5(GAA):c.1053G>T (p.Val351=) rs773063199 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837 0.00002
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys) rs749186162 0.00002
NM_000152.5(GAA):c.1194+16_1194+18del rs750576595 0.00002
NM_000152.5(GAA):c.1194+17G>T rs548850587 0.00002
NM_000152.5(GAA):c.1215G>A (p.Leu405=) rs1272114587 0.00002
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00002
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) rs748788550 0.00002
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00002
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808 0.00002
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545 0.00002
NM_000152.5(GAA):c.1437+6G>A rs754249803 0.00002
NM_000152.5(GAA):c.1438-11T>A rs376247021 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1544T>C (p.Met515Thr) rs1338245575 0.00002
NM_000152.5(GAA):c.1554C>T (p.Asp518=) rs745482879 0.00002
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271 0.00002
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1636+10C>A rs778634411 0.00002
NM_000152.5(GAA):c.1637-17G>A rs1031721446 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1815C>T (p.Gly605=) rs756507404 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00002
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.1936G>A (p.Val646Ile) rs770029932 0.00002
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2041-17C>T rs746028622 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841 0.00002
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00002
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile) rs1381005435 0.00002
NM_000152.5(GAA):c.221G>A (p.Arg74His) rs764797280 0.00002
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823 0.00002
NM_000152.5(GAA):c.231A>G (p.Ala77=) rs748580998 0.00002
NM_000152.5(GAA):c.2331+16C>T rs762495996 0.00002
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) rs776111131 0.00002
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962 0.00002
NM_000152.5(GAA):c.240A>G (p.Thr80=) rs778124725 0.00002
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser) rs1365945556 0.00002
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997 0.00002
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120 0.00002
NM_000152.5(GAA):c.2482-19C>T rs750055374 0.00002
NM_000152.5(GAA):c.2604G>A (p.Leu868=) rs772250523 0.00002
NM_000152.5(GAA):c.2610A>G (p.Arg870=) rs375831200 0.00002
NM_000152.5(GAA):c.2799+15A>G rs2510405404 0.00002
NM_000152.5(GAA):c.280C>A (p.Pro94Thr) rs749496973 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) rs1291571294 0.00002
NM_000152.5(GAA):c.412C>G (p.Leu138Val) rs761221259 0.00002
NM_000152.5(GAA):c.446C>T (p.Thr149Met) rs750628023 0.00002
NM_000152.5(GAA):c.546+2_546+6dup rs753159224 0.00002
NM_000152.5(GAA):c.608G>A (p.Arg203Gln) rs754446365 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.654C>T (p.Phe218=) rs762830719 0.00002
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) rs2289537 0.00002
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347 0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041 0.00002
NM_000152.5(GAA):c.692+16T>C rs774229249 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000152.5(GAA):c.840C>G (p.Asn280Lys) rs747820772 0.00002
NM_000152.5(GAA):c.857C>T (p.Thr286Met) rs375310352 0.00002
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) rs369735511 0.00002
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000152.5(GAA):c.899C>T (p.Ala300Val) rs1032949450 0.00002
NM_000152.5(GAA):c.924C>T (p.His308=) rs370105640 0.00002
NM_000152.5(GAA):c.955+11C>T rs760678639 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243 0.00002
NM_000152.5(GAA):c.979G>A (p.Ala327Thr) rs756562462 0.00002
NM_000152.5(GAA):c.*163G>T rs761668638 0.00001
NM_000152.5(GAA):c.*66G>A rs908570853 0.00001
NM_000152.5(GAA):c.*82C>T rs745999686 0.00001
NM_000152.5(GAA):c.-32-3C>A rs1055945806 0.00001
NM_000152.5(GAA):c.-32-3C>T rs1055945806 0.00001
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr) rs1334402365 0.00001
NM_000152.5(GAA):c.1041C>T (p.Pro347=) rs1489442441 0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940 0.00001
NM_000152.5(GAA):c.1049T>C (p.Val350Ala) rs2039144934 0.00001
NM_000152.5(GAA):c.1053G>A (p.Val351=) rs773063199 0.00001
NM_000152.5(GAA):c.1056G>A (p.Gln352=) rs2039145288 0.00001
NM_000152.5(GAA):c.1059G>C (p.Gln353His) rs376146090 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1068C>T (p.Asp356=) rs751215137 0.00001
NM_000152.5(GAA):c.1075+14C>G rs376547092 0.00001
NM_000152.5(GAA):c.1075+16T>C rs1238980415 0.00001
NM_000152.5(GAA):c.1075+4G>A rs754290055 0.00001
NM_000152.5(GAA):c.1075+7C>T rs1394701272 0.00001
NM_000152.5(GAA):c.1076-12G>A rs375310178 0.00001
NM_000152.5(GAA):c.1076-13C>T rs780339134 0.00001
NM_000152.5(GAA):c.1076-1G>C rs1555600050 0.00001
NM_000152.5(GAA):c.1076-3C>T rs1220435321 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.108G>A (p.Leu36=) rs1369758261 0.00001
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser) rs1393551214 0.00001
NM_000152.5(GAA):c.1095A>G (p.Pro365=) rs1555600060 0.00001
NM_000152.5(GAA):c.109C>G (p.Leu37Val) rs369775994 0.00001
NM_000152.5(GAA):c.1107G>T (p.Leu369=) rs767807936 0.00001
NM_000152.5(GAA):c.1110C>G (p.Gly370=) rs775172804 0.00001
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520 0.00001
NM_000152.5(GAA):c.1116C>T (p.His372=) rs760146859 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) rs963719602 0.00001
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe) rs377233099 0.00001
NM_000152.5(GAA):c.1140C>T (p.Ser380=) rs1214685237 0.00001
NM_000152.5(GAA):c.1146T>G (p.Ala382=) rs1259509761 0.00001
NM_000152.5(GAA):c.1161G>C (p.Val387=) rs756211975 0.00001
NM_000152.5(GAA):c.1170C>T (p.Asn390=) rs757174980 0.00001
NM_000152.5(GAA):c.1171A>G (p.Met391Val) rs778634337 0.00001
NM_000152.5(GAA):c.117C>T (p.Pro39=) rs1449695541 0.00001
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr) rs190889375 0.00001
NM_000152.5(GAA):c.1184A>T (p.His395Leu) rs775121651 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1191C>G (p.Pro397=) rs886105848 0.00001
NM_000152.5(GAA):c.1192C>T (p.Leu398=) rs369707231 0.00001
NM_000152.5(GAA):c.1194+13G>A rs752951057 0.00001
NM_000152.5(GAA):c.1194+9G>A rs577388014 0.00001
NM_000152.5(GAA):c.1195-16C>T rs369955471 0.00001
NM_000152.5(GAA):c.1195-17C>G rs530557756 0.00001
NM_000152.5(GAA):c.1195-4G>T rs886042626 0.00001
NM_000152.5(GAA):c.1195-8G>A rs1194778188 0.00001
NM_000152.5(GAA):c.1197C>T (p.Asp399=) rs1555600168 0.00001
NM_000152.5(GAA):c.1200C>G (p.Val400=) rs1431452557 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) rs886042961 0.00001
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys) rs780674083 0.00001
NM_000152.5(GAA):c.1227C>T (p.Asp409=) rs2039157937 0.00001
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) rs777431563 0.00001
NM_000152.5(GAA):c.1230C>A (p.Ser410=) rs746340075 0.00001
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) rs772730706 0.00001
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868 0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292 0.00001
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) rs201463496 0.00001
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser) rs755829900 0.00001
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp) rs777372252 0.00001
NM_000152.5(GAA):c.1319T>C (p.Met440Thr) rs768847441 0.00001
NM_000152.5(GAA):c.1323C>T (p.Ile441=) rs761982159 0.00001
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348 0.00001
NM_000152.5(GAA):c.1326+20G>A rs774138443 0.00001
NM_000152.5(GAA):c.1326+8C>A rs762988038 0.00001
NM_000152.5(GAA):c.1327-16G>A rs1378637239 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1327-7T>G rs774490566 0.00001
NM_000152.5(GAA):c.1338C>T (p.Ile446=) rs931782061 0.00001
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942 0.00001
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) rs2039191738 0.00001
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) rs199748889 0.00001
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg) rs1257379580 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) rs886043976 0.00001
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu) rs765931661 0.00001
NM_000152.5(GAA):c.1437+15C>T rs2143867420 0.00001
NM_000152.5(GAA):c.1437+18G>C rs780285430 0.00001
NM_000152.5(GAA):c.1438-10C>T rs1029231930 0.00001
NM_000152.5(GAA):c.1438-12C>G rs1177064482 0.00001
NM_000152.5(GAA):c.1438-14C>T rs2039211912 0.00001
NM_000152.5(GAA):c.1438G>A (p.Val480Ile) rs769574574 0.00001
NM_000152.5(GAA):c.1439T>A (p.Val480Glu) rs1224298513 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1448G>T (p.Gly483Val) rs2039213206 0.00001
NM_000152.5(GAA):c.1449G>A (p.Gly483=) rs2039213274 0.00001
NM_000152.5(GAA):c.1455T>G (p.Thr485=) rs774037839 0.00001
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro) rs1283045273 0.00001
NM_000152.5(GAA):c.1458C>T (p.Ala486=) rs1051768479 0.00001
NM_000152.5(GAA):c.1464C>T (p.Pro488=) rs767075458 0.00001
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu) rs2143872278 0.00001
NM_000152.5(GAA):c.1485C>T (p.Ala495=) rs765596792 0.00001
NM_000152.5(GAA):c.1500G>A (p.Glu500=) rs893313279 0.00001
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala) rs1418481698 0.00001
NM_000152.5(GAA):c.151G>A (p.Glu51Lys) rs2039030436 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1539C>T (p.Asp513=) rs150990571 0.00001
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) rs777571608 0.00001
NM_000152.5(GAA):c.1551+10G>T rs1002900770 0.00001
NM_000152.5(GAA):c.1551+12C>A rs937342824 0.00001
NM_000152.5(GAA):c.1551+15C>G rs566096057 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1551+6T>C rs1272252561 0.00001
NM_000152.5(GAA):c.1551+7G>A rs1340464172 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala) rs1598582021 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) rs1039935633 0.00001
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys) rs1351247900 0.00001
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp) rs2039224225 0.00001
NM_000152.5(GAA):c.1610del (p.Glu537fs) rs762060817 0.00001
NM_000152.5(GAA):c.1612C>T (p.Leu538=) rs2039224536 0.00001
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser) rs2039224662 0.00001
NM_000152.5(GAA):c.1636+19T>A rs2510375410 0.00001
NM_000152.5(GAA):c.1636+7T>C rs1041767114 0.00001
NM_000152.5(GAA):c.1636+9G>A rs200302174 0.00001
NM_000152.5(GAA):c.1637-11G>A rs557695694 0.00001
NM_000152.5(GAA):c.1637-19C>T rs1233701484 0.00001
NM_000152.5(GAA):c.1639G>A (p.Val547Met) rs751102729 0.00001
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) rs754686630 0.00001
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro) rs1283351706 0.00001
NM_000152.5(GAA):c.1662G>A (p.Ala554=) rs775954786 0.00001
NM_000152.5(GAA):c.1669A>G (p.Ile557Val) rs747150965 0.00001
NM_000152.5(GAA):c.166C>A (p.His56Asn) rs781650771 0.00001
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe) rs576056187 0.00001
NM_000152.5(GAA):c.1698C>T (p.Ser566=) rs970201201 0.00001
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro) rs543222774 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro) rs369098202 0.00001
NM_000152.5(GAA):c.1754+1G>A rs886043399 0.00001
NM_000152.5(GAA):c.1754+6G>C rs1282791373 0.00001
NM_000152.5(GAA):c.1754+8C>T rs1349192080 0.00001
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys) rs747373179 0.00001
NM_000152.5(GAA):c.1755-11C>T rs752066426 0.00001
NM_000152.5(GAA):c.1755-19G>A rs1234721529 0.00001
NM_000152.5(GAA):c.1755-20G>A rs756761799 0.00001
NM_000152.5(GAA):c.1755-3C>T rs748327755 0.00001
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg) rs1387345310 0.00001
NM_000152.5(GAA):c.1791G>C (p.Val597=) rs2039262436 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1797C>A (p.Ser599=) rs761377657 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1825T>C (p.Tyr609His) rs778892297 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277 0.00001
NM_000152.5(GAA):c.183C>T (p.Ser61=) rs17853995 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317 0.00001
NM_000152.5(GAA):c.1857C>T (p.Ser619=) rs914396317 0.00001
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro) rs2039267331 0.00001
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr) rs757445420 0.00001
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841 0.00001
NM_000152.5(GAA):c.1881C>T (p.Ser627=) rs779328815 0.00001
NM_000152.5(GAA):c.1882G>T (p.Val628Leu) rs745911962 0.00001
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036 0.00001
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu) rs746961289 0.00001
NM_000152.5(GAA):c.1888+10T>C rs979833509 0.00001
NM_000152.5(GAA):c.1888+12C>A rs1180170703 0.00001
NM_000152.5(GAA):c.1888+8C>T rs772887194 0.00001
NM_000152.5(GAA):c.1889-14C>T rs890806224 0.00001
NM_000152.5(GAA):c.1889-20G>A rs550960099 0.00001
NM_000152.5(GAA):c.1889-7C>G rs765713320 0.00001
NM_000152.5(GAA):c.1902T>C (p.Phe634=) rs2510383002 0.00001
NM_000152.5(GAA):c.1926C>T (p.Val642=) rs1346499760 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp) rs1448515860 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.1959C>T (p.Thr653=) rs370737292 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.1977G>A (p.Val659=) rs751873094 0.00001
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) rs916566117 0.00001
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467 0.00001
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr) rs752507985 0.00001
NM_000152.5(GAA):c.2007C>T (p.Pro669=) rs1343280702 0.00001
NM_000152.5(GAA):c.2012T>C (p.Met671Thr) rs398123170 0.00001
NM_000152.5(GAA):c.2025C>T (p.Asn675=) rs143951130 0.00001
NM_000152.5(GAA):c.2028C>T (p.Ser676=) rs1209690340 0.00001
NM_000152.5(GAA):c.2040+15G>A rs748621127 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2040+8G>A rs779647712 0.00001
NM_000152.5(GAA):c.2041-13G>A rs1450561353 0.00001
NM_000152.5(GAA):c.2041-14C>T rs1047297951 0.00001
NM_000152.5(GAA):c.2041-7C>T rs1212995227 0.00001
NM_000152.5(GAA):c.2043C>A (p.Pro681=) rs764174168 0.00001
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) rs776486462 0.00001
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) rs767191385 0.00001
NM_000152.5(GAA):c.2070G>A (p.Pro690=) rs757802524 0.00001
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg) rs779338215 0.00001
NM_000152.5(GAA):c.2097C>T (p.Leu699=) rs1381174968 0.00001
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) rs775376321 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys) rs536245770 0.00001
NM_000152.5(GAA):c.2118C>T (p.Leu706=) rs1479318289 0.00001
NM_000152.5(GAA):c.2121C>T (p.Pro707=) rs761852346 0.00001
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477 0.00001
NM_000152.5(GAA):c.2142C>T (p.His714=) rs779462990 0.00001
NM_000152.5(GAA):c.214C>A (p.Pro72Thr) rs923068950 0.00001
NM_000152.5(GAA):c.2166C>T (p.Thr722=) rs759452172 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) rs1290010789 0.00001
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) rs760644219 0.00001
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) rs1232306443 0.00001
NM_000152.5(GAA):c.2189+1G>T rs1209887739 0.00001
NM_000152.5(GAA):c.2196C>A (p.Pro732=) rs915890435 0.00001
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) rs763612880 0.00001
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe) rs1433908909 0.00001
NM_000152.5(GAA):c.2218G>T (p.Val740Leu) rs752122499 0.00001
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974 0.00001
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) rs767773929 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2259C>T (p.Thr753=) rs2039367115 0.00001
NM_000152.5(GAA):c.2283C>T (p.Ala761=) rs774769974 0.00001
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) rs781365881 0.00001
NM_000152.5(GAA):c.2331+17del rs1567839149 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2345C>T (p.Ala782Val) rs994916972 0.00001
NM_000152.5(GAA):c.234G>T (p.Val78=) rs2039033854 0.00001
NM_000152.5(GAA):c.237C>T (p.Pro79=) rs1315495989 0.00001
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys) rs367779589 0.00001
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597 0.00001
NM_000152.5(GAA):c.2392A>G (p.Ile798Val) rs752459996 0.00001
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys) rs201980859 0.00001
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu) rs2039386318 0.00001
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804 0.00001
NM_000152.5(GAA):c.2424G>A (p.Pro808=) rs763272351 0.00001
NM_000152.5(GAA):c.2427C>G (p.Ala809=) rs766325117 0.00001
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) rs786204304 0.00001
NM_000152.5(GAA):c.2463G>T (p.Gly821=) rs923989221 0.00001
NM_000152.5(GAA):c.2476C>T (p.Leu826=) rs2039389671 0.00001
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) rs771101156 0.00001
NM_000152.5(GAA):c.2481+12A>G rs773652476 0.00001
NM_000152.5(GAA):c.2481+14G>A rs749667983 0.00001
NM_000152.5(GAA):c.2481+20A>G rs577361967 0.00001
NM_000152.5(GAA):c.2481+4C>G rs2039389862 0.00001
NM_000152.5(GAA):c.2481+6T>C rs1479232207 0.00001
NM_000152.5(GAA):c.2482-16G>A rs2039401013 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile) rs749662485 0.00001
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598 0.00001
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2517G>A (p.Gln839=) rs1567840240 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.2522T>C (p.Met841Thr) rs758016479 0.00001
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr) rs1464282302 0.00001
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg) rs1555603096 0.00001
NM_000152.5(GAA):c.2544C>T (p.Thr848=) rs776487269 0.00001
NM_000152.5(GAA):c.2547G>A (p.Lys849=) rs1206561075 0.00001
NM_000152.5(GAA):c.2550T>C (p.Gly850=) rs761608706 0.00001
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg) rs1341804179 0.00001
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978 0.00001
NM_000152.5(GAA):c.260A>G (p.Asn87Ser) rs117530672 0.00001
NM_000152.5(GAA):c.2616C>T (p.Ala872=) rs776563457 0.00001
NM_000152.5(GAA):c.2619C>T (p.Tyr873=) rs1555603132 0.00001
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) rs769578772 0.00001
NM_000152.5(GAA):c.2646+11G>A rs1219786295 0.00001
NM_000152.5(GAA):c.2646+12G>A rs762885132 0.00001
NM_000152.5(GAA):c.2646+8C>A rs773123506 0.00001
NM_000152.5(GAA):c.2647-12T>C rs774890354 0.00001
NM_000152.5(GAA):c.2647-4C>T rs1241825088 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.264C>T (p.Ser88=) rs1470933192 0.00001
NM_000152.5(GAA):c.2651C>T (p.Thr884Met) rs759144318 0.00001
NM_000152.5(GAA):c.2655C>T (p.Ile885=) rs774840779 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.2700G>A (p.Gln900=) rs1490464728 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.270C>T (p.Phe90=) rs768078324 0.00001
NM_000152.5(GAA):c.2712G>A (p.Val904=) rs886043848 0.00001
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) rs1027032995 0.00001
NM_000152.5(GAA):c.2733G>A (p.Thr911=) rs770812649 0.00001
NM_000152.5(GAA):c.2735C>T (p.Ala912Val) rs778874712 0.00001
NM_000152.5(GAA):c.276C>T (p.Cys92=) rs1232001857 0.00001
NM_000152.5(GAA):c.2778C>T (p.Phe926=) rs760016362 0.00001
NM_000152.5(GAA):c.2782T>C (p.Tyr928His) rs2143934702 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.2793C>T (p.Asp931=) rs1439341909 0.00001
NM_000152.5(GAA):c.2799+12C>T rs2039418782 0.00001
NM_000152.5(GAA):c.2800-16G>A rs1436621520 0.00001
NM_000152.5(GAA):c.2803C>T (p.Leu935=) rs746826091 0.00001
NM_000152.5(GAA):c.2811C>G (p.Ile937Met) rs2039429760 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.2820G>A (p.Ser940=) rs992579033 0.00001
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) rs1034101189 0.00001
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350 0.00001
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) rs183458422 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.2850C>T (p.Ser950=) rs1024026364 0.00001
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe) rs2039431289 0.00001
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) rs778816809 0.00001
NM_000152.5(GAA):c.298C>A (p.Gln100Lys) rs780027584 0.00001
NM_000152.5(GAA):c.314C>T (p.Ala105Val) rs761409404 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.328T>C (p.Tyr110His) rs761311330 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.354G>A (p.Gln118=) rs2039040096 0.00001
NM_000152.5(GAA):c.364A>G (p.Met122Val) rs2039040448 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806 0.00001
NM_000152.5(GAA):c.384C>T (p.Phe128=) rs1021707839 0.00001
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626 0.00001
NM_000152.5(GAA):c.408C>T (p.Tyr136=) rs774018778 0.00001
NM_000152.5(GAA):c.421C>T (p.Leu141=) rs1379595858 0.00001
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673 0.00001
NM_000152.5(GAA):c.42C>G (p.Ala14=) rs141377453 0.00001
NM_000152.5(GAA):c.435A>T (p.Glu145Asp) rs765586839 0.00001
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869 0.00001
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112 0.00001
NM_000152.5(GAA):c.450C>G (p.Ala150=) rs752367410 0.00001
NM_000152.5(GAA):c.456G>T (p.Leu152=) rs1477781307 0.00001
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00001
NM_000152.5(GAA):c.461G>A (p.Arg154His) rs781124934 0.00001
NM_000152.5(GAA):c.468C>T (p.Thr156=) rs145849611 0.00001
NM_000152.5(GAA):c.471C>T (p.Pro157=) rs551653463 0.00001
NM_000152.5(GAA):c.472A>G (p.Thr158Ala) rs1598570556 0.00001
NM_000152.5(GAA):c.480C>T (p.Phe160=) rs2039045532 0.00001
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) rs1204103099 0.00001
NM_000152.5(GAA):c.488A>T (p.Asp163Val) rs755903462 0.00001
NM_000152.5(GAA):c.48C>T (p.Cys16=) rs202168804 0.00001
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) rs751425831 0.00001
NM_000152.5(GAA):c.503G>T (p.Arg168Leu) rs376685205 0.00001
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543 0.00001
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755 0.00001
NM_000152.5(GAA):c.530A>C (p.Asn177Thr) rs936395356 0.00001
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362 0.00001
NM_000152.5(GAA):c.539A>G (p.His180Arg) rs773474041 0.00001
NM_000152.5(GAA):c.543C>T (p.Phe181=) rs1567826499 0.00001
NM_000152.5(GAA):c.546+12A>G rs1438157883 0.00001
NM_000152.5(GAA):c.546+7A>C rs1329049814 0.00001
NM_000152.5(GAA):c.546+8G>A rs200107080 0.00001
NM_000152.5(GAA):c.547-41G>C rs753870549 0.00001
NM_000152.5(GAA):c.549C>G (p.Ile183Met) rs778132082 0.00001
NM_000152.5(GAA):c.560C>G (p.Ala187Gly) rs749876645 0.00001
NM_000152.5(GAA):c.561T>A (p.Ala187=) rs1447796220 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000152.5(GAA):c.573C>T (p.Tyr191=) rs376229714 0.00001
NM_000152.5(GAA):c.574G>A (p.Glu192Lys) rs1407372901 0.00001
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446 0.00001
NM_000152.5(GAA):c.583T>G (p.Leu195Val) rs1323831512 0.00001
NM_000152.5(GAA):c.58T>A (p.Ser20Thr) rs1245858495 0.00001
NM_000152.5(GAA):c.594G>A (p.Pro198=) rs1426823689 0.00001
NM_000152.5(GAA):c.598G>T (p.Val200Phe) rs1370160746 0.00001
NM_000152.5(GAA):c.603C>T (p.His201=) rs1442775924 0.00001
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274 0.00001
NM_000152.5(GAA):c.609G>A (p.Arg203=) rs1247872563 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.621A>G (p.Pro207=) rs772482115 0.00001
NM_000152.5(GAA):c.625T>C (p.Tyr209His) rs930808379 0.00001
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys) rs2039071766 0.00001
NM_000152.5(GAA):c.630C>T (p.Ser210=) rs775568949 0.00001
NM_000152.5(GAA):c.631G>A (p.Val211Met) rs760995790 0.00001
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) rs768596085 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.681C>T (p.Asp227=) rs780515378 0.00001
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) rs1470881018 0.00001
NM_000152.5(GAA):c.692+11G>C rs1332154008 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.692+9T>C rs367661167 0.00001
NM_000152.5(GAA):c.693-13C>G rs760379754 0.00001
NM_000152.5(GAA):c.693-15G>A rs775090947 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511 0.00001
NM_000152.5(GAA):c.704C>T (p.Thr235Met) rs752950890 0.00001
NM_000152.5(GAA):c.706G>T (p.Val236Leu) rs777964427 0.00001
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763 0.00001
NM_000152.5(GAA):c.714C>A (p.Pro238=) rs2039116166 0.00001
NM_000152.5(GAA):c.715C>T (p.Leu239=) rs778882374 0.00001
NM_000152.5(GAA):c.723T>G (p.Phe241Leu) rs1160112655 0.00001
NM_000152.5(GAA):c.72T>C (p.Ala24=) rs747380728 0.00001
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366 0.00001
NM_000152.5(GAA):c.733T>G (p.Phe245Val) rs1046519954 0.00001
NM_000152.5(GAA):c.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298 0.00001
NM_000152.5(GAA):c.753G>A (p.Ser251=) rs761363283 0.00001
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) rs1169157671 0.00001
NM_000152.5(GAA):c.764A>G (p.Gln255Arg) rs1405975877 0.00001
NM_000152.5(GAA):c.769A>G (p.Ile257Val) rs199674786 0.00001
NM_000152.5(GAA):c.777C>T (p.Gly259=) rs1319695388 0.00001
NM_000152.5(GAA):c.780C>T (p.Leu260=) rs372614893 0.00001
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178 0.00001
NM_000152.5(GAA):c.789C>T (p.His263=) rs1336545018 0.00001
NM_000152.5(GAA):c.790C>T (p.Leu264Phe) rs1005162016 0.00001
NM_000152.5(GAA):c.795T>A (p.Ser265Arg) rs779785396 0.00001
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667 0.00001
NM_000152.5(GAA):c.798C>G (p.Pro266=) rs1598575210 0.00001
NM_000152.5(GAA):c.804G>A (p.Met268Ile) rs1185610552 0.00001
NM_000152.5(GAA):c.821C>T (p.Thr274Ile) rs768488233 0.00001
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000152.5(GAA):c.843G>A (p.Arg281=) rs1221565410 0.00001
NM_000152.5(GAA):c.858+11G>A rs1464849313 0.00001
NM_000152.5(GAA):c.858+14C>T rs746986703 0.00001
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00001
NM_000152.5(GAA):c.859-19C>T rs1331623680 0.00001
NM_000152.5(GAA):c.859-3C>T rs1356743231 0.00001
NM_000152.5(GAA):c.859-4C>G rs749017942 0.00001
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) rs769074720 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.873C>T (p.Leu291=) rs1598575713 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519 0.00001
NM_000152.5(GAA):c.879G>A (p.Gly293=) rs2143849260 0.00001
NM_000152.5(GAA):c.87C>T (p.His29=) rs2039028572 0.00001
NM_000152.5(GAA):c.894C>T (p.Tyr298=) rs2039130623 0.00001
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304 0.00001
NM_000152.5(GAA):c.906G>A (p.Glu302=) rs1488323868 0.00001
NM_000152.5(GAA):c.909C>T (p.Asp303=) rs752724918 0.00001
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384 0.00001
NM_000152.5(GAA):c.918G>A (p.Ser306=) rs373276219 0.00001
NM_000152.5(GAA):c.927G>T (p.Gly309=) rs886043779 0.00001
NM_000152.5(GAA):c.936G>T (p.Leu312=) rs1456154347 0.00001
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506 0.00001
NM_000152.5(GAA):c.955+20G>C rs1462980610 0.00001
NM_000152.5(GAA):c.955+5G>C rs759508507 0.00001
NM_000152.5(GAA):c.956-11T>C rs2143852431 0.00001
NM_000152.5(GAA):c.956-7C>G rs2039141380 0.00001
NM_000152.5(GAA):c.961G>A (p.Val321Ile) rs895612400 0.00001
NM_000152.5(GAA):c.969G>T (p.Gln323His) rs1266693289 0.00001
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960 0.00001
NM_000152.5(GAA):c.993G>A (p.Arg331=) rs749831587 0.00001
NM_000152.5(GAA):c.995C>T (p.Ser332Leu) rs757608620 0.00001
NM_000152.5(GAA):c.996G>A (p.Ser332=) rs779266179 0.00001
NM_000152.5(GAA):c.99T>C (p.His33=) rs144736309 0.00001
NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del
NC_000017.10:g.(78086511_78086674)_(78087166_78090766)del
NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del
NC_000017.10:g.(?_78078341)_(78093140_?)dup
NC_000017.10:g.(?_78078341)_(78093150_?)dup
NC_000017.10:g.(?_78079696)_(78082725_?)del
NC_000017.10:g.(?_78082476)_(78090745_?)del
NC_000017.10:g.(?_78082486)_(78087175_?)del
NC_000017.10:g.(?_78084516)_(78084834_?)del
NC_000017.10:g.(?_78085283)_(78092476_?)del
NC_000017.10:g.(?_78086381)_(78091497_?)del
NC_000017.10:g.(?_78086997)_(78087185_?)del
NC_000017.10:g.(?_78090747)_(78093130_?)del
NC_000017.10:g.(?_78090757)_(78092614_?)del
NC_000017.10:g.(?_78090757)_(78093140_?)dup
NC_000017.10:g.(?_78090799)_(78093893_?)del
NC_000017.10:g.(?_78091379)_(78093130_?)del
NC_000017.10:g.(?_78091652)_78092189del
NC_000017.10:g.(?_78091972)_(78092176_?)del
NC_000017.10:g.(?_78092582)_(78096154_?)del
NC_000017.11:g.(?_80104542)_(80105914_?)del
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000017.11:g.(?_80108677)_(80113386_?)del
NC_000017.11:g.(?_80109935)_(80113376_?)del
NC_000017.11:g.(?_80118183)_(80118367_?)del
NC_000017.11:g.(?_80118193)_(80118357_?)del
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
NM_000152.5(GAA):c.*128T>C rs886053549
NM_000152.5(GAA):c.*219G>A rs1216535924
NM_000152.5(GAA):c.*309C>T rs886053550
NM_000152.5(GAA):c.*313C>G rs926145648
NM_000152.5(GAA):c.-32-13T>C rs386834236
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC rs2510343698
NM_000152.5(GAA):c.-32-1G>C rs1555598460
NM_000152.5(GAA):c.-32-2A>G rs1445232530
NM_000152.5(GAA):c.-32-385_143del rs2510342858
NM_000152.5(GAA):c.-32-3del rs2510343759
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) rs2039143109
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp) rs202095215
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000152.5(GAA):c.1005G>A (p.Gly335=) rs1598576696
NM_000152.5(GAA):c.1005G>C (p.Gly335=) rs1598576696
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr) rs772371937
NM_000152.5(GAA):c.1008C>A (p.Ile336=) rs994615279
NM_000152.5(GAA):c.1008C>T (p.Ile336=) rs994615279
NM_000152.5(GAA):c.1009C>T (p.Leu337=) rs1387814304
NM_000152.5(GAA):c.1011G>T (p.Leu337=) rs775384900
NM_000152.5(GAA):c.1017C>T (p.Val339=) rs1242745765
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter) rs1358917187
NM_000152.5(GAA):c.1020C>T (p.Tyr340=) rs1358917187
NM_000152.5(GAA):c.1023C>A (p.Ile341=) rs2510362235
NM_000152.5(GAA):c.1026C>T (p.Phe342=) rs910930578
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser) rs2510362319
NM_000152.5(GAA):c.1035A>C (p.Pro345=) rs942325926
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln) rs1267253122
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser) rs2039144354
NM_000152.5(GAA):c.1044G>A (p.Lys348=) rs1249705476
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys) rs764355476
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter) rs764355476
NM_000152.5(GAA):c.1057del (p.Gln353fs) rs2143853690
NM_000152.5(GAA):c.105C>T (p.Phe35=) rs2510344638
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1062C>T (p.Tyr354=) rs1064796703
NM_000152.5(GAA):c.1065G>A (p.Leu355=) rs2143853784
NM_000152.5(GAA):c.1069G>A (p.Val357Ile) rs754449703
NM_000152.5(GAA):c.1069G>T (p.Val357Phe) rs754449703
NM_000152.5(GAA):c.1071T>C (p.Val357=) rs1598576937
NM_000152.5(GAA):c.1075+10G>A rs2039146277
NM_000152.5(GAA):c.1075+14C>T rs376547092
NM_000152.5(GAA):c.1075+15C>T rs2510362892
NM_000152.5(GAA):c.1075+18G>A rs2510362909
NM_000152.5(GAA):c.1075+1G>A
NM_000152.5(GAA):c.1075+1G>T rs2039146031
NM_000152.5(GAA):c.1075+2T>A rs2143853890
NM_000152.5(GAA):c.1075+2T>C rs2143853890
NM_000152.5(GAA):c.1075+5G>A rs2510362791
NM_000152.5(GAA):c.1075+8del rs2510362830
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg) rs1064794288
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1076-10T>A rs2039148366
NM_000152.5(GAA):c.1076-11T>C rs2510363227
NM_000152.5(GAA):c.1076-12del rs2039148326
NM_000152.5(GAA):c.1076-14G>A rs2143854410
NM_000152.5(GAA):c.1076-15G>A rs370414054
NM_000152.5(GAA):c.1076-15G>C rs370414054
NM_000152.5(GAA):c.1076-15G>T rs370414054
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1076-4G>T rs2039148417
NM_000152.5(GAA):c.1076-7C>T rs2510363256
NM_000152.5(GAA):c.1076-8G>A rs2510363246
NM_000152.5(GAA):c.1080C>T (p.Tyr360=) rs2143854519
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1082dup (p.Phe362fs) rs2143854537
NM_000152.5(GAA):c.1086C>T (p.Phe362=) rs2143854600
NM_000152.5(GAA):c.1089G>A (p.Met363Ile) rs2510363310
NM_000152.5(GAA):c.108G>C (p.Leu36=) rs1369758261
NM_000152.5(GAA):c.108G>T (p.Leu36=) rs1369758261
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu) rs769811240
NM_000152.5(GAA):c.1091del (p.Pro364fs) rs2143854659
NM_000152.5(GAA):c.1092G>A (p.Pro364=) rs777730774
NM_000152.5(GAA):c.1092G>C (p.Pro364=) rs777730774
NM_000152.5(GAA):c.1095A>C (p.Pro365=) rs1555600060
NM_000152.5(GAA):c.1096T>C (p.Tyr366His)
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser) rs2143854757
NM_000152.5(GAA):c.1098C>T (p.Tyr366=) rs2143854770
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1099del (p.Trp367fs) rs1057516785
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) rs1478500490
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) rs368244038
NM_000152.5(GAA):c.1105C>T (p.Leu369=) rs2143854883
NM_000152.5(GAA):c.1105dup (p.Leu369fs) rs2510363378
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln) rs2039149745
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.1107G>A (p.Leu369=) rs767807936
NM_000152.5(GAA):c.1107G>C (p.Leu369=) rs767807936
NM_000152.5(GAA):c.1110C>T (p.Gly370=) rs775172804
NM_000152.5(GAA):c.1111_1115delinsCCACTGGGG (p.Phe371fs)
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1117del (p.Leu373fs) rs2510363449
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg) rs2039150286
NM_000152.5(GAA):c.1119G>A (p.Leu373=) rs763579808
NM_000152.5(GAA):c.1122C>T (p.Cys374=) rs1342501706
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser) rs372486238
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128G>C (p.Trp376Cys)
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) rs752002666
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys) rs752002666
NM_000152.5(GAA):c.1130del (p.Gly377fs) rs754134578
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn) rs2510363533
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1134C>T (p.Tyr378=) rs1567830317
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del) rs2510363549
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) rs377233099
NM_000152.5(GAA):c.1137C>G (p.Ser379=) rs2039151138
NM_000152.5(GAA):c.1140C>A (p.Ser380=) rs1214685237
NM_000152.5(GAA):c.1143C>G (p.Thr381=)
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr) rs1193750279
NM_000152.5(GAA):c.1149C>T (p.Ile383=) rs2510363603
NM_000152.5(GAA):c.1153del (p.Arg385fs) rs1555600102
NM_000152.5(GAA):c.1155C>G (p.Arg385=) rs2143855573
NM_000152.5(GAA):c.1155C>T (p.Arg385=) rs2143855573
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1158G>T (p.Gln386His) rs1400466814
NM_000152.5(GAA):c.115C>A (p.Pro39Thr) rs759236536
NM_000152.5(GAA):c.1160T>C (p.Val387Ala) rs2510363648
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del) rs778970166
NM_000152.5(GAA):c.1164G>A (p.Val388=) rs2143855798
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1172T>A (p.Met391Lys) rs745642331
NM_000152.5(GAA):c.1173G>A (p.Met391Ile) rs2143855905
NM_000152.5(GAA):c.1176C>T (p.Thr392=) rs2143855934
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr) rs2039152735
NM_000152.5(GAA):c.1182C>T (p.Ala394=) rs771894765
NM_000152.5(GAA):c.1184A>G (p.His395Arg) rs775121651
NM_000152.5(GAA):c.1185C>T (p.His395=) rs2143856022
NM_000152.5(GAA):c.1188C>T (p.Phe396=) rs756126944
NM_000152.5(GAA):c.118C>G (p.Arg40Gly) rs767409395
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) rs369707231
NM_000152.5(GAA):c.1192del (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) rs1598577666
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+10G>A rs2143856297
NM_000152.5(GAA):c.1194+10G>T rs2143856297
NM_000152.5(GAA):c.1194+11G>T rs1438853671
NM_000152.5(GAA):c.1194+11del rs2143856264
NM_000152.5(GAA):c.1194+15T>A rs1440504574
NM_000152.5(GAA):c.1194+15T>C rs1440504574
NM_000152.5(GAA):c.1194+19_1194+20del
NM_000152.5(GAA):c.1194+20G>C rs764197248
NM_000152.5(GAA):c.1194+2T>C rs1057516215
NM_000152.5(GAA):c.1194+2T>G rs1057516215
NM_000152.5(GAA):c.1194+3G>T rs368539333
NM_000152.5(GAA):c.1194+5G>A rs2039153749
NM_000152.5(GAA):c.1194+6T>C rs1470004759
NM_000152.5(GAA):c.1194+8G>T rs2143856250
NM_000152.5(GAA):c.1194+9G>T rs577388014
NM_000152.5(GAA):c.1195-15G>C rs373840229
NM_000152.5(GAA):c.1195-18C>A rs2510364364
NM_000152.5(GAA):c.1195-19T>C rs2510364359
NM_000152.5(GAA):c.1195-19_2190-17del
NM_000152.5(GAA):c.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1195-2A>C rs765360653
NM_000152.5(GAA):c.1195-2A>G rs765360653
NM_000152.5(GAA):c.1195-4G>A rs886042626
NM_000152.5(GAA):c.1195-5T>C rs2143856963
NM_000152.5(GAA):c.1195-7del rs2510364434
NM_000152.5(GAA):c.1195-9T>C rs2143856933
NM_000152.5(GAA):c.1198del (p.Val400fs) rs780928895
NM_000152.5(GAA):c.1200C>T (p.Val400=) rs1431452557
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter) rs2510364501
NM_000152.5(GAA):c.1209C>T (p.Asn403=) rs751333479
NM_000152.5(GAA):c.1212C>T (p.Asp404=) rs2143857187
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1218C>T (p.Asp406=) rs2039157400
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1222A>C (p.Met408Leu)
NM_000152.5(GAA):c.1223T>C (p.Met408Thr) rs2510364535
NM_000152.5(GAA):c.1225dup (p.Asp409fs) rs2039157751
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs) rs1598578030
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro) rs2039157992
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.5(GAA):c.1234A>C (p.Arg412=) rs1465948446
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup) rs2143857460
NM_000152.5(GAA):c.1236G>A (p.Arg412=) rs1171718934
NM_000152.5(GAA):c.1239C>G (p.Asp413Glu) rs2039158556
NM_000152.5(GAA):c.1239C>T (p.Asp413=) rs2039158556
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu) rs886042630
NM_000152.5(GAA):c.1241del (p.Phe414fs) rs2510364645
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs) rs2510364649
NM_000152.5(GAA):c.1246T>G (p.Phe416Val) rs2510364708
NM_000152.5(GAA):c.1250A>G (p.Asn417Ser)
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg) rs2039159106
NM_000152.5(GAA):c.1254G>A (p.Lys418=) rs769131433
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly) rs1397577545
NM_000152.5(GAA):c.1260C>A (p.Gly420=) rs1233004496
NM_000152.5(GAA):c.1260C>G (p.Gly420=) rs1233004496
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn) rs1201294046
NM_000152.5(GAA):c.126G>C (p.Leu42=) rs2143825047
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr) rs1283810246
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.5(GAA):c.1274del (p.Pro425fs) rs2510364922
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr) rs2143857881
NM_000152.5(GAA):c.1278C>T (p.Ala426=) rs2510365012
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
NM_000152.5(GAA):c.1284G>T (p.Val428=) rs2143857912
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter) rs528369909
NM_000152.5(GAA):c.1291_1299del (p.Leu431_Gln433del)
NM_000152.5(GAA):c.1293G>T (p.Leu431=) rs1172862164
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs) rs2510365079
NM_000152.5(GAA):c.1296C>T (p.His432=) rs2143858058
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs) rs2143858151
NM_000152.5(GAA):c.1306C>A (p.Arg436=) rs777372252
NM_000152.5(GAA):c.1308del (p.Arg437fs) rs2143858305
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser) rs770610356
NM_000152.5(GAA):c.1311C>T (p.Arg437=) rs1234415461
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter) rs1333715186
NM_000152.5(GAA):c.1314C>T (p.Tyr438=) rs1333715186
NM_000152.5(GAA):c.1315A>G (p.Met439Val) rs959885349
NM_000152.5(GAA):c.1317G>A (p.Met439Ile) rs991245388
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1318A>G (p.Met440Val)
NM_000152.5(GAA):c.1320G>A (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1320G>C (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1323C>A (p.Ile441=) rs761982159
NM_000152.5(GAA):c.1326+12C>G rs2510365555
NM_000152.5(GAA):c.1326+12del rs747910205
NM_000152.5(GAA):c.1326+15A>G rs2143858786
NM_000152.5(GAA):c.1326+16C>G rs1159967223
NM_000152.5(GAA):c.1326+16C>T rs1159967223
NM_000152.5(GAA):c.1326+17T>C
NM_000152.5(GAA):c.1326+20G>T rs774138443
NM_000152.5(GAA):c.1326+2T>C rs1434761678
NM_000152.5(GAA):c.1326+6T>C rs1199225255
NM_000152.5(GAA):c.1326+7G>A rs1567831086
NM_000152.5(GAA):c.1326+8C>G rs762988038
NM_000152.5(GAA):c.1326+8C>T rs762988038
NM_000152.5(GAA):c.1326G>A (p.Val442=) rs773471300
NM_000152.5(GAA):c.1327-10C>T rs2510369731
NM_000152.5(GAA):c.1327-12C>T rs2510369723
NM_000152.5(GAA):c.1327-16G>T rs1378637239
NM_000152.5(GAA):c.1327-18A>C rs2278619
NM_000152.5(GAA):c.1327-19_1327-18inv
NM_000152.5(GAA):c.1327-20A>G rs2143865452
NM_000152.5(GAA):c.1327-4C>T rs1344983432
NM_000152.5(GAA):c.1327-58_1352del rs2510369568
NM_000152.5(GAA):c.1327-5C>A rs1314883749
NM_000152.5(GAA):c.1327-5C>G
NM_000152.5(GAA):c.1327-5C>T rs1314883749
NM_000152.5(GAA):c.1327-6T>C
NM_000152.5(GAA):c.1327-8C>T rs1598579967
NM_000152.5(GAA):c.1327-9T>C rs2510369733
NM_000152.5(GAA):c.1327-9T>G
NM_000152.5(GAA):c.132C>T (p.Gly44=) rs2143825106
NM_000152.5(GAA):c.1336A>G (p.Ile446Val) rs775612060
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
NM_000152.5(GAA):c.1336dup (p.Ile446fs) rs2143865725
NM_000152.5(GAA):c.133T>G (p.Ser45Ala) rs1322709296
NM_000152.5(GAA):c.133del (p.Ser45fs) rs2510344757
NM_000152.5(GAA):c.1341C>T (p.Ser447=) rs2510369855
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala) rs2510369892
NM_000152.5(GAA):c.1347G>C (p.Ser449=) rs756938942
NM_000152.5(GAA):c.1347_1350del (p.Gly450fs) rs2510369910
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs) rs2039190879
NM_000152.5(GAA):c.134C>T (p.Ser45Phe) rs1179395024
NM_000152.5(GAA):c.1351C>A (p.Pro451Thr)
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs) rs2510369993
NM_000152.5(GAA):c.1356del (p.Ser454fs) rs2039191420
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu) rs2039191662
NM_000152.5(GAA):c.1359G>A (p.Gly453=) rs2143866026
NM_000152.5(GAA):c.135C>T (p.Ser45=) rs2143825187
NM_000152.5(GAA):c.1362C>T (p.Ser454=) rs2510370050
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys) rs2510370057
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer) rs2510370078
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser) rs2143866086
NM_000152.5(GAA):c.1370C>A (p.Pro457His)
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg) rs2039191855
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu) rs2039191855
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) rs1567832012
NM_000152.5(GAA):c.1374C>A (p.Tyr458Ter)
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn) rs2143866239
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr) rs535644999
NM_000152.5(GAA):c.1376A>T (p.Asp459Val) rs2143866303
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs) rs2143866321
NM_000152.5(GAA):c.1377C>T (p.Asp459=) rs778121058
NM_000152.5(GAA):c.1377dup (p.Glu460fs) rs2039192386
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp) rs1024328155
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp) rs1277491722
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) rs2143866454
NM_000152.5(GAA):c.1386G>T (p.Leu462=) rs2510370366
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) rs2039192921
NM_000152.5(GAA):c.138C>G (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1390A>C (p.Arg464=) rs2039193001
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp) rs2039193001
NM_000152.5(GAA):c.1392G>A (p.Arg464=) rs372786811
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp) rs2510370511
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp) rs1257379580
NM_000152.5(GAA):c.1395G>A (p.Gly465=) rs2143866655
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) rs375006053
NM_000152.5(GAA):c.1396G>T (p.Val466Phe) rs375006053
NM_000152.5(GAA):c.1396del (p.Val466fs) rs1273392818
NM_000152.5(GAA):c.1396dup (p.Val466fs) rs1273392818
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup) rs2039193694
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser) rs2510370572
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu) rs886043148
NM_000152.5(GAA):c.1407del (p.Asn470fs) rs2510370609
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser) rs144155165
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys) rs886043068
NM_000152.5(GAA):c.1416C>A (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs) rs2510370699
NM_000152.5(GAA):c.1420C>T (p.Gln474Ter)
NM_000152.5(GAA):c.1422G>A (p.Gln474=) rs2510370808
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) rs756613882
NM_000152.5(GAA):c.1426C>T (p.Leu476=) rs756613882
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs) rs2039195145
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro) rs2039195201
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) rs1598580369
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1437+13T>G
NM_000152.5(GAA):c.1437+16A>G rs2510371024
NM_000152.5(GAA):c.1437+16_1437+22dup rs2510371015
NM_000152.5(GAA):c.1437+16del
NM_000152.5(GAA):c.1437+17G>C
NM_000152.5(GAA):c.1437+19G>T
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437+20G>A rs768737799
NM_000152.5(GAA):c.1437+20G>T rs768737799
NM_000152.5(GAA):c.1437+2T>C rs1598580407
NM_000152.5(GAA):c.1437+7C>G rs757605518
NM_000152.5(GAA):c.1437+7C>T rs757605518
NM_000152.5(GAA):c.1437+8G>C rs779194427
NM_000152.5(GAA):c.1437+8G>T
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1437G>C (p.Lys479Asn) rs796051877
NM_000152.5(GAA):c.1438-10C>G rs1029231930
NM_000152.5(GAA):c.1438-12C>T rs1177064482
NM_000152.5(GAA):c.1438-13T>C rs1598581379
NM_000152.5(GAA):c.1438-15_1438-1del rs1567832762
NM_000152.5(GAA):c.1438-16G>A
NM_000152.5(GAA):c.1438-19G>A rs2304844
NM_000152.5(GAA):c.1438-1G>A rs147804176
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1438-6G>A
NM_000152.5(GAA):c.1438-6G>C rs1252384762
NM_000152.5(GAA):c.1438-7T>C rs1484346995
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1438-9G>C rs202211401
NM_000152.5(GAA):c.1438-9G>T rs202211401
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) rs1224298513
NM_000152.5(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter) rs2143871845
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.144C>T (p.Val48=) rs1055575232
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro) rs1337100943
NM_000152.5(GAA):c.1453A>G (p.Thr485Ala)
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile) rs2143872073
NM_000152.5(GAA):c.1455T>C (p.Thr485=) rs774037839
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr) rs1283045273
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser) rs1283045273
NM_000152.5(GAA):c.1457C>T (p.Ala486Val) rs2039213698
NM_000152.5(GAA):c.1461C>T (p.Phe487=) rs2510373728
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu) rs2143872219
NM_000152.5(GAA):c.1464dup (p.Asp489fs) rs2039213824
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly) rs2510373785
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys) rs2510373806
NM_000152.5(GAA):c.1472_1474del (p.Thr491del) rs2510373815
NM_000152.5(GAA):c.1476C>T (p.Asn492=)
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser) rs1555600755
NM_000152.5(GAA):c.1479C>G (p.Pro493=)
NM_000152.5(GAA):c.147G>A (p.Leu49=) rs915625623
NM_000152.5(GAA):c.1484C>T (p.Ala495Val) rs1156383084
NM_000152.5(GAA):c.1486C>T (p.Leu496=) rs1598581572
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.5(GAA):c.148G>T (p.Glu50Ter) rs1555598609
NM_000152.5(GAA):c.148_859-11del
NM_000152.5(GAA):c.1494del (p.Trp498fs) rs2510373966
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) rs1473805095
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly) rs2143872652
NM_000152.5(GAA):c.1508T>C (p.Val503Ala) rs2510373999
NM_000152.5(GAA):c.1509G>A (p.Val503=) rs2143872732
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu) rs1464913441
NM_000152.5(GAA):c.1518C>T (p.Phe506=) rs1464913441
NM_000152.5(GAA):c.1519dup (p.His507fs) rs2039216097
NM_000152.5(GAA):c.1521T>C (p.His507=)
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter) rs2510374041
NM_000152.5(GAA):c.1527G>A (p.Gln509=) rs2510374045
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu) rs866592332
NM_000152.5(GAA):c.1533C>G (p.Pro511=) rs1598581655
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg) rs2510374194
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter) rs2039217093
NM_000152.5(GAA):c.1551+10G>A rs1002900770
NM_000152.5(GAA):c.1551+10dup rs2143873218
NM_000152.5(GAA):c.1551+11C>T rs2039217885
NM_000152.5(GAA):c.1551+14C>T
NM_000152.5(GAA):c.1551+15del rs2510374282
NM_000152.5(GAA):c.1551+1G>A rs770780848
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1551+20G>A rs1258162019
NM_000152.5(GAA):c.1551+4A>C rs1217212080
NM_000152.5(GAA):c.1551+5G>A rs2039217485
NM_000152.5(GAA):c.1551+7G>T rs1340464172
NM_000152.5(GAA):c.1552-10del rs765853344
NM_000152.5(GAA):c.1552-12C>A rs2143873890
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1552-16A>G rs2510374540
NM_000152.5(GAA):c.1552-20C>T rs777538313
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1552-3C>T rs375470378
NM_000152.5(GAA):c.1552-7C>G rs2039221235
NM_000152.5(GAA):c.1552-7C>T rs2039221235
NM_000152.5(GAA):c.1552-8T>C rs2039221161
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn) rs2039221468
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
NM_000152.5(GAA):c.1557G>A (p.Met519Ile) rs1447365901
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs) rs2143874124
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser) rs1555600852
NM_000152.5(GAA):c.1559A>T (p.Asn520Ile) rs1555600852
NM_000152.5(GAA):c.1559del (p.Asn520fs) rs2143874154
NM_000152.5(GAA):c.1560C>G (p.Asn520Lys)
NM_000152.5(GAA):c.1560del (p.Asn520fs) rs2510374682
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln) rs121907937
NM_000152.5(GAA):c.1561del (p.Glu521fs) rs2479896089
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1563G>T (p.Glu521Asp)
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu) rs2143874287
NM_000152.5(GAA):c.1567T>C (p.Ser523Pro)
NM_000152.5(GAA):c.1567del (p.Ser523fs) rs1057517267
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys) rs2039222579
NM_000152.5(GAA):c.156T>A (p.Thr52=) rs2143825403
NM_000152.5(GAA):c.156_157del (p.His53fs) rs1027029347
NM_000152.5(GAA):c.1571A>C (p.Asn524Thr) rs1379211438
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys) rs1417304813
NM_000152.5(GAA):c.1572C>T (p.Asn524=) rs1417304813
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs) rs2510374790
NM_000152.5(GAA):c.1575dup (p.Ile526fs) rs2143874398
NM_000152.5(GAA):c.1576A>G (p.Ile526Val) rs2039222806
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly) rs2510374800
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1579del (p.Arg527fs) rs2039222879
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys) rs2510374822
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.5(GAA):c.1583G>T (p.Gly528Val) rs794727016
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) rs1598582021
NM_000152.5(GAA):c.1587del (p.Glu530fs) rs2510374858
NM_000152.5(GAA):c.1588G>T (p.Glu530Ter)
NM_000152.5(GAA):c.1589_1598del (p.Glu530fs)
NM_000152.5(GAA):c.1589del (p.Glu530fs) rs777173465
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg) rs773576381
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys) rs773576381
NM_000152.5(GAA):c.159C>A (p.His53Gln) rs2143825464
NM_000152.5(GAA):c.159C>T (p.His53=) rs2143825464
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) rs1039935633
NM_000152.5(GAA):c.1602C>A (p.Pro534=) rs1241189076
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs) rs2143874754
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys) rs2039224372
NM_000152.5(GAA):c.1609G>A (p.Glu537Lys)
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp) rs2039224476
NM_000152.5(GAA):c.1616A>G (p.Glu539Gly) rs2510374970
NM_000152.5(GAA):c.161C>T (p.Pro54Leu) rs768898668
NM_000152.5(GAA):c.1620C>T (p.Asn540=)
NM_000152.5(GAA):c.1621_1622del (p.Pro541fs) rs2510375020
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) rs1598582130
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1626del (p.Tyr543fs)
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys) rs1160583761
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) rs1567833361
NM_000152.5(GAA):c.1632G>A (p.Val544=)
NM_000152.5(GAA):c.1632G>C (p.Val544=) rs2510375193
NM_000152.5(GAA):c.1632G>T (p.Val544=) rs2510375193
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser) rs2143875175
NM_000152.5(GAA):c.1635T>A (p.Pro545=) rs2510375245
NM_000152.5(GAA):c.1636+10C>G rs778634411
NM_000152.5(GAA):c.1636+10C>T rs778634411
NM_000152.5(GAA):c.1636+11C>T rs2510375374
NM_000152.5(GAA):c.1636+12C>G rs2510375379
NM_000152.5(GAA):c.1636+12C>T rs2510375379
NM_000152.5(GAA):c.1636+14C>T rs758256318
NM_000152.5(GAA):c.1636+15C>G rs1598582207
NM_000152.5(GAA):c.1636+15C>T rs1598582207
NM_000152.5(GAA):c.1636+15dup rs765563836
NM_000152.5(GAA):c.1636+17C>T rs1003384850
NM_000152.5(GAA):c.1636+18C>T rs779571852
NM_000152.5(GAA):c.1636+1G>A rs2143875243
NM_000152.5(GAA):c.1636+460_2672del
NM_000152.5(GAA):c.1636+7del rs2510375304
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1637-10C>T rs2143881993
NM_000152.5(GAA):c.1637-10_1637-9delinsGA rs2143882002
NM_000152.5(GAA):c.1637-11G>C rs557695694
NM_000152.5(GAA):c.1637-12_1637-9del rs2510378207
NM_000152.5(GAA):c.1637-12dup rs1277291394
NM_000152.5(GAA):c.1637-16C>A
NM_000152.5(GAA):c.1637-2A>G rs2143882034
NM_000152.5(GAA):c.1637-9C>T rs1598583515
NM_000152.5(GAA):c.1638G>A (p.Gly546=) rs1260256483
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met) rs2510378342
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg) rs780800306
NM_000152.5(GAA):c.1645G>C (p.Gly549Arg)
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu) rs2039246325
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala) rs2039246325
NM_000152.5(GAA):c.1649G>T (p.Gly550Val) rs2039246464
NM_000152.5(GAA):c.1650G>A (p.Gly550=) rs747638133
NM_000152.5(GAA):c.1650del (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del) rs2510378477
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe) rs144957920
NM_000152.5(GAA):c.1654del (p.Leu552fs) rs2039246615
NM_000152.5(GAA):c.1656C>A (p.Leu552=) rs2039246860
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) rs746401921
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro) rs2510378539
NM_000152.5(GAA):c.1664C>T (p.Ala555Val)
NM_000152.5(GAA):c.1668C>T (p.Thr556=) rs1415372735
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser) rs1408164312
NM_000152.5(GAA):c.1671C>A (p.Ile557=) rs1359682440
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr) rs2510378592
NM_000152.5(GAA):c.1673G>C (p.Cys558Ser)
NM_000152.5(GAA):c.1674T>C (p.Cys558=) rs2143882693
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs) rs2143882664
NM_000152.5(GAA):c.167A>T (p.His56Leu) rs113740017
NM_000152.5(GAA):c.1680C>T (p.Ser560=) rs2143882734
NM_000152.5(GAA):c.1683C>T (p.Ser561=) rs2143882764
NM_000152.5(GAA):c.1686C>T (p.His562=) rs1295865590
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692T>C (p.Phe564=) rs886043997
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe) rs2510378682
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs) rs2510378668
NM_000152.5(GAA):c.1695C>G (p.Leu565=) rs2143882915
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe) rs2039248188
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.16C>T (p.Pro6Ser) rs1424116613
NM_000152.5(GAA):c.1703A>G (p.His568Arg) rs2143882997
NM_000152.5(GAA):c.1703A>T (p.His568Leu) rs2143882997
NM_000152.5(GAA):c.1704C>G (p.His568Gln) rs776882059
NM_000152.5(GAA):c.1704C>T (p.His568=) rs776882059
NM_000152.5(GAA):c.1704dup (p.Tyr569fs) rs2143883054
NM_000152.5(GAA):c.1705dup (p.Tyr569fs) rs2143883097
NM_000152.5(GAA):c.1707C>G (p.Tyr569Ter) rs2510378832
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser) rs2510378853
NM_000152.5(GAA):c.1711C>G (p.Leu571Val) rs1405669960
NM_000152.5(GAA):c.1711C>T (p.Leu571=) rs1405669960
NM_000152.5(GAA):c.1714C>T (p.His572Tyr) rs2510378879
NM_000152.5(GAA):c.1715A>C (p.His572Pro) rs1424756308
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1716C>T (p.His572=) rs772962666
NM_000152.5(GAA):c.1716del (p.His572fs)
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys) rs1175728529
NM_000152.5(GAA):c.1719C>T (p.Asn573=) rs1175728529
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro) rs2510378916
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1724A>T (p.Tyr575Phe) rs1471006718
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter) rs112517802
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) rs1555601255
NM_000152.5(GAA):c.1728C>G (p.Gly576=) rs2143883499
NM_000152.5(GAA):c.1728C>T (p.Gly576=) rs2143883499
NM_000152.5(GAA):c.1731G>A (p.Leu577=) rs1361940343
NM_000152.5(GAA):c.1731G>T (p.Leu577=) rs1361940343
NM_000152.5(GAA):c.1734C>G (p.Thr578=)
NM_000152.5(GAA):c.1734C>T (p.Thr578=) rs149384771
NM_000152.5(GAA):c.1739C>T (p.Ala580Val) rs909561836
NM_000152.5(GAA):c.1741A>G (p.Ile581Val) rs559258217
NM_000152.5(GAA):c.1743C>G (p.Ile581Met) rs527970795
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr) rs369098202
NM_000152.5(GAA):c.1746C>T (p.Ala582=) rs1380648058
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1750C>A (p.His584Asn) rs780475756
NM_000152.5(GAA):c.1752C>T (p.His584=) rs2510379198
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) rs1555601273
NM_000152.5(GAA):c.1754+12G>T rs2304840
NM_000152.5(GAA):c.1754+15C>T rs2510379307
NM_000152.5(GAA):c.1754+18C>T rs2510379323
NM_000152.5(GAA):c.1754+1_1754+7del rs2039250790
NM_000152.5(GAA):c.1754+21dup
NM_000152.5(GAA):c.1754+2T>A rs2143884018
NM_000152.5(GAA):c.1754+2T>C rs2143884018
NM_000152.5(GAA):c.1754+9C>G rs1319204794
NM_000152.5(GAA):c.1755-12C>A rs2510381139
NM_000152.5(GAA):c.1755-16del rs751532846
NM_000152.5(GAA):c.1755-17G>A rs1356830080
NM_000152.5(GAA):c.1755-1G>A rs2039261208
NM_000152.5(GAA):c.1755-5C>T rs2510381201
NM_000152.5(GAA):c.1755-8C>G rs755281047
NM_000152.5(GAA):c.1755-9C>T rs2510381172
NM_000152.5(GAA):c.1758G>T (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs) rs2039261436
NM_000152.5(GAA):c.1762G>A (p.Val588Met) rs370138790
NM_000152.5(GAA):c.1764G>A (p.Val588=) rs2143887715
NM_000152.5(GAA):c.1770T>C (p.Ala590=) rs2510381290
NM_000152.5(GAA):c.1776G>A (p.Gly592=) rs1317655623
NM_000152.5(GAA):c.1776G>C (p.Gly592=) rs1317655623
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1782C>A (p.Arg594=) rs2510381323
NM_000152.5(GAA):c.1782C>T (p.Arg594=) rs2510381323
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1794C>G (p.Ile598Met) rs2039262568
NM_000152.5(GAA):c.1797C>T (p.Ser599=) rs761377657
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly) rs764670084
NM_000152.5(GAA):c.1798del (p.Arg600fs) rs2510381346
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu) rs377544304
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) rs771409180
NM_000152.5(GAA):c.1800C>T (p.Arg600=) rs1598584611
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1803G>T (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala) rs781484283
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile) rs753034060
NM_000152.5(GAA):c.1806C>A (p.Thr602=) rs1598584645
NM_000152.5(GAA):c.1809del (p.Phe603fs) rs2143888280
NM_000152.5(GAA):c.180C>G (p.Ala60=) rs2039031609
NM_000152.5(GAA):c.1814G>T (p.Gly605Val)
NM_000152.5(GAA):c.1814del (p.Gly605fs) rs2510381384
NM_000152.5(GAA):c.1817A>C (p.His606Pro) rs1311698018
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys) rs940955642
NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del) rs1555601409
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) rs1555601409
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly) rs749529161
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe) rs2039264297
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter) rs745754277
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter) rs745754277
NM_000152.5(GAA):c.1830C>A (p.Ala610=) rs61736896
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1833C>T (p.Gly611=) rs2510381474
NM_000152.5(GAA):c.1834C>A (p.His612Asn) rs2039264895
NM_000152.5(GAA):c.1836C>G (p.His612Gln) rs768397968
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg) rs1598584806
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1842G>C (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1844G>T (p.Gly615Val) rs1243515778
NM_000152.5(GAA):c.1845G>A (p.Gly615=) rs2510381532
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn) rs796161389
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr) rs796161389
NM_000152.5(GAA):c.1846del (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1846dup (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu) rs377175810
NM_000152.5(GAA):c.1848dup (p.Val617fs) rs2482171849
NM_000152.5(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter) rs1384805011
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg) rs2510381595
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly) rs2510381595
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu) rs2143889579
NM_000152.5(GAA):c.1869G>T (p.Gln623His) rs2510381668
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe) rs764377962
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser) rs757445420
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del) rs2510381693
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro) rs1235035841
NM_000152.5(GAA):c.1878C>T (p.Ser626=) rs2143889719
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys) rs1024137874
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1882G>A (p.Val628Met) rs745911962
NM_000152.5(GAA):c.1882G>C (p.Val628Leu) rs745911962
NM_000152.5(GAA):c.1885C>A (p.Pro629Thr)
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser) rs753420582
NM_000152.5(GAA):c.1888+14A>C
NM_000152.5(GAA):c.1888+15G>A rs2510381942
NM_000152.5(GAA):c.1888+18G>A rs1452309871
NM_000152.5(GAA):c.1888+18G>C rs1452309871
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1888+20G>C rs2039269182
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.1888+5G>C rs528282884
NM_000152.5(GAA):c.1888+6_1888+14del rs2039268703
NM_000152.5(GAA):c.1889-12_1889-11del rs777483558
NM_000152.5(GAA):c.1889-13T>C rs777261834
NM_000152.5(GAA):c.1889-15A>T rs769015085
NM_000152.5(GAA):c.1889-17T>C
NM_000152.5(GAA):c.1889-18C>G rs2510382810
NM_000152.5(GAA):c.1889-4C>T rs2039274199
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1889-7C>T rs765713320
NM_000152.5(GAA):c.1893C>T (p.Ile631=) rs1598585395
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro) rs1598585402
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg) rs1598585402
NM_000152.5(GAA):c.1896G>T (p.Leu632=) rs1463611599
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro) rs2039274878
NM_000152.5(GAA):c.189A>C (p.Pro63=) rs2039031886
NM_000152.5(GAA):c.189A>G (p.Pro63=)
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1905C>G (p.Asn635Lys)
NM_000152.5(GAA):c.1905C>T (p.Asn635=) rs1414146587
NM_000152.5(GAA):c.1906C>T (p.Leu636=) rs1296740179
NM_000152.5(GAA):c.1908G>C (p.Leu636=) rs750610238
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del) rs2039275157
NM_000152.5(GAA):c.1911G>A (p.Leu637=) rs2039275341
NM_000152.5(GAA):c.1913G>A (p.Gly638Glu)
NM_000152.5(GAA):c.1913G>T (p.Gly638Val) rs1294428728
NM_000152.5(GAA):c.1914G>A (p.Gly638=) rs1305357140
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu) rs2510383115
NM_000152.5(GAA):c.1924G>T (p.Val642Phe) rs1567835613
NM_000152.5(GAA):c.1926C>A (p.Val642=) rs1346499760
NM_000152.5(GAA):c.1926C>G (p.Val642=) rs1346499760
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp) rs28937909
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala) rs2510383208
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1930del (p.Ala644fs) rs2510383199
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1934A>G (p.Asp645Gly)
NM_000152.5(GAA):c.1935C>T (p.Asp645=) rs28940868
NM_000152.5(GAA):c.1937del (p.Val646fs) rs1806124182
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr) rs1265892085
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys) rs536906561
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) rs770248553
NM_000152.5(GAA):c.1947C>T (p.Phe649=) rs770248553
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) rs1359573192
NM_000152.5(GAA):c.1948C>T (p.Leu650=) rs1359573192
NM_000152.5(GAA):c.194C>A (p.Pro65His) rs1482530928
NM_000152.5(GAA):c.194C>T (p.Pro65Leu) rs1482530928
NM_000152.5(GAA):c.1950G>C (p.Leu650=) rs2510383690
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp) rs939350425
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1953C>T (p.Gly651=) rs2510383797
NM_000152.5(GAA):c.1956C>T (p.Asn652=) rs2510383804
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.1962A>G (p.Ser654=) rs2143892394
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly) rs1269689890
NM_000152.5(GAA):c.1966del (p.Glu656fs) rs2510384001
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp) rs2510384015
NM_000152.5(GAA):c.1971G>A (p.Leu657=) rs1313258240
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly) rs2039278476
NM_000152.5(GAA):c.1975G>C (p.Val659Leu) rs2143892513
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs) rs2510384097
NM_000152.5(GAA):c.1976_1977del (p.Val659fs) rs2143892473
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly) rs759518659
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile) rs2039278795
NM_000152.5(GAA):c.1986C>T (p.Thr662=) rs2039278843
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter) rs2143892654
NM_000152.5(GAA):c.1987del (p.Gln663fs) rs2143892615
NM_000152.5(GAA):c.1989G>A (p.Gln663=) rs1189531783
NM_000152.5(GAA):c.1989G>T (p.Gln663His) rs1189531783
NM_000152.5(GAA):c.198G>A (p.Arg66=) rs2143825886
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) rs916566117
NM_000152.5(GAA):c.1996dup (p.Ala666fs) rs2510384153
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu) rs2039279293
NM_000152.5(GAA):c.199del (p.Asp67fs) rs2143825870
NM_000152.5(GAA):c.1A>T (p.Met1Leu) rs786204467
NM_000152.5(GAA):c.2001C>T (p.Phe667=) rs1195530644
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs) rs2510384203
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter) rs2510384208
NM_000152.5(GAA):c.2004C>T (p.Tyr668=) rs2510384208
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala) rs752507985
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly) rs757111744
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu) rs778418246
NM_000152.5(GAA):c.2016G>A (p.Arg672=) rs2510384289
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr) rs1598585837
NM_000152.5(GAA):c.2019C>T (p.Asn673=) rs1305042955
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2022C>T (p.His674=) rs1166812052
NM_000152.5(GAA):c.2029C>T (p.Leu677=) rs1272817506
NM_000152.5(GAA):c.202G>T (p.Ala68Ser)
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) rs886053546
NM_000152.5(GAA):c.2034C>T (p.Leu678=)
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly) rs1567835990
NM_000152.5(GAA):c.2040+11_2040+18dup rs745338070
NM_000152.5(GAA):c.2040+12G>T
NM_000152.5(GAA):c.2040+13T>C rs2039281348
NM_000152.5(GAA):c.2040+14G>A rs898679504
NM_000152.5(GAA):c.2040+17G>T
NM_000152.5(GAA):c.2040+18G>A rs2510384569
NM_000152.5(GAA):c.2040+18G>T rs2510384569
NM_000152.5(GAA):c.2040+19_2040+20inv
NM_000152.5(GAA):c.2040+1G>C rs1057516928
NM_000152.5(GAA):c.2040+1del rs1555601662
NM_000152.5(GAA):c.2040+20A>C
NM_000152.5(GAA):c.2040+20_2190-274del
NM_000152.5(GAA):c.2040+2T>G rs2510384401
NM_000152.5(GAA):c.2040+4G>C rs1598585909
NM_000152.5(GAA):c.2040+8G>C rs779647712
NM_000152.5(GAA):c.2040+8G>T rs779647712
NM_000152.5(GAA):c.2040+9G>A rs1442494491
NM_000152.5(GAA):c.2040+9G>C rs1442494491
NM_000152.5(GAA):c.2040G>A (p.Leu680=) rs2039280842
NM_000152.5(GAA):c.2041-14del rs2510385685
NM_000152.5(GAA):c.2041-14dup rs2510385685
NM_000152.5(GAA):c.2041-15C>G rs2039285692
NM_000152.5(GAA):c.2041-17C>A rs746028622
NM_000152.5(GAA):c.2041-18C>T
NM_000152.5(GAA):c.2041-1G>A rs760731229
NM_000152.5(GAA):c.2041-20T>C rs2510385657
NM_000152.5(GAA):c.2041-4G>A rs775757700
NM_000152.5(GAA):c.2041-9G>A rs912717099
NM_000152.5(GAA):c.2041-9G>T rs912717099
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser) rs2039286160
NM_000152.5(GAA):c.2043C>G (p.Pro681=) rs764174168
NM_000152.5(GAA):c.2043C>T (p.Pro681=) rs764174168
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2045delinsCG (p.Gln682fs)
NM_000152.5(GAA):c.2047G>T (p.Glu683Ter)
NM_000152.5(GAA):c.2049G>A (p.Glu683=) rs2510385857
NM_000152.5(GAA):c.204C>T (p.Ala68=) rs2143825931
NM_000152.5(GAA):c.2052G>C (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2052G>T (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) rs1555601721
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) rs750214208
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) rs1598586309
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) rs370174315
NM_000152.5(GAA):c.2061del (p.Phe687fs) rs1064796706
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg) rs140996643
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs) rs2510386025
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2070G>C (p.Pro690=) rs757802524
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter) rs2039287628
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys) rs2039287681
NM_000152.5(GAA):c.2078dup (p.Ala694fs) rs730880372
NM_000152.5(GAA):c.2079G>A (p.Gln693=)
NM_000152.5(GAA):c.207G>A (p.Gln69=) rs2039032628
NM_000152.5(GAA):c.2080G>T (p.Ala694Ser)
NM_000152.5(GAA):c.2082C>T (p.Ala694=) rs2510386100
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2084T>C (p.Met695Thr) rs2143895805
NM_000152.5(GAA):c.2088G>A (p.Arg696=) rs2143895840
NM_000152.5(GAA):c.2088del (p.Lys697fs) rs2510386126
NM_000152.5(GAA):c.208G>A (p.Ala70Thr)
NM_000152.5(GAA):c.2091G>A (p.Lys697=) rs2143895855
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs) rs2510386166
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) rs1001458871
NM_000152.5(GAA):c.2095dup (p.Leu699fs) rs2143895928
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro) rs1555601748
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile) rs2039288481
NM_000152.5(GAA):c.2100C>A (p.Thr700=) rs199571088
NM_000152.5(GAA):c.2100C>T (p.Thr700=) rs199571088
NM_000152.5(GAA):c.2101C>G (p.Leu701Val) rs772378218
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter) rs150728610
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter) rs150728610
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) rs375681364
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro) rs375681364
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) rs375681364
NM_000152.5(GAA):c.2112A>C (p.Ala704=) rs1449566083
NM_000152.5(GAA):c.2112A>G (p.Ala704=) rs1449566083
NM_000152.5(GAA):c.2115C>G (p.Leu705=) rs372881095
NM_000152.5(GAA):c.2115C>T (p.Leu705=) rs372881095
NM_000152.5(GAA):c.2118C>G (p.Leu706=) rs1479318289
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu) rs139009731
NM_000152.5(GAA):c.2122C>A (p.His708Asn) rs149916476
NM_000152.5(GAA):c.2122C>G (p.His708Asp) rs149916476
NM_000152.5(GAA):c.2122del (p.His708fs) rs2510386542
NM_000152.5(GAA):c.2122dup (p.His708fs) rs2510386542
NM_000152.5(GAA):c.2124C>G (p.His708Gln) rs751187069
NM_000152.5(GAA):c.2124C>T (p.His708=) rs751187069
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter) rs2039289942
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro) rs2143896492
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala) rs2143896492
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser) rs2143896492
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
NM_000152.5(GAA):c.2134C>T (p.Leu712=) rs752233229
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu) rs755618776
NM_000152.5(GAA):c.213C>T (p.His71=) rs763739885
NM_000152.5(GAA):c.213_217dup (p.Gly73fs)
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) rs1332887976
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2148C>A (p.Ala716=) rs750907936
NM_000152.5(GAA):c.2148C>G (p.Ala716=) rs750907936
NM_000152.5(GAA):c.2152G>C (p.Val718Leu) rs141017311
NM_000152.5(GAA):c.2154C>G (p.Val718=) rs1800311
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) rs146762316
NM_000152.5(GAA):c.2157G>C (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2157G>T (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter) rs140376273
NM_000152.5(GAA):c.2161del (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2161dup (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2163G>A (p.Glu721=) rs2143896953
NM_000152.5(GAA):c.2166C>G (p.Thr722=) rs759452172
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal) rs2039292050
NM_000152.5(GAA):c.2169G>A (p.Val723=) rs2510386900
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr) rs1393059819
NM_000152.5(GAA):c.2172C>T (p.Ala724=) rs2039292373
NM_000152.5(GAA):c.2173del (p.Arg725fs) rs2039292320
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu) rs577042191
NM_000152.5(GAA):c.2175G>T (p.Arg725=) rs2143897169
NM_000152.5(GAA):c.2178C>A (p.Pro726=) rs1226457670
NM_000152.5(GAA):c.2178C>G (p.Pro726=) rs1226457670
NM_000152.5(GAA):c.2178C>T (p.Pro726=) rs1226457670
NM_000152.5(GAA):c.217G>T (p.Gly73Cys) rs760644219
NM_000152.5(GAA):c.2185C>T (p.Leu729=) rs2510386927
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter) rs1555601828
NM_000152.5(GAA):c.2189+10_2189+11del rs2510386956
NM_000152.5(GAA):c.2189+16A>G
NM_000152.5(GAA):c.2189+16del rs2510386972
NM_000152.5(GAA):c.2189+2T>A rs2510386943
NM_000152.5(GAA):c.2189+3G>C rs2143897458
NM_000152.5(GAA):c.2189+5_2189+8del rs2039293139
NM_000152.5(GAA):c.2189+8A>C
NM_000152.5(GAA):c.2189+9C>G rs2039293292
NM_000152.5(GAA):c.2189+9C>T rs2039293292
NM_000152.5(GAA):c.2190-10C>A rs1567838707
NM_000152.5(GAA):c.2190-16C>T rs774469195
NM_000152.5(GAA):c.2190-20T>C rs1485579975
NM_000152.5(GAA):c.2190-20T>G rs1485579975
NM_000152.5(GAA):c.2190-7C>G rs2039363813
NM_000152.5(GAA):c.2190-9C>A rs2510395917
NM_000152.5(GAA):c.2193C>T (p.Phe731=) rs1431701735
NM_000152.5(GAA):c.21C>T (p.Pro7=) rs2143823837
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr) rs1377188867
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys) rs1433908909
NM_000152.5(GAA):c.2205T>C (p.Ser735=) rs2143918429
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) rs1381005435
NM_000152.5(GAA):c.2211C>G (p.Thr737=) rs2143918476
NM_000152.5(GAA):c.2211C>T (p.Thr737=) rs2143918476
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala) rs578245757
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2220G>A (p.Val740=) rs2510396119
NM_000152.5(GAA):c.2223C>T (p.Asp741=) rs767773929
NM_000152.5(GAA):c.2226C>T (p.His742=) rs2510396164
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2229G>A (p.Gln743=) rs2143918741
NM_000152.5(GAA):c.2229G>C (p.Gln743His)
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.5(GAA):c.2232C>T (p.Leu744=) rs2039365391
NM_000152.5(GAA):c.2234T>G (p.Leu745Arg) rs2510396260
NM_000152.5(GAA):c.2235G>A (p.Leu745=) rs1429277920
NM_000152.5(GAA):c.2235G>C (p.Leu745=) rs1429277920
NM_000152.5(GAA):c.2235G>T (p.Leu745=) rs1429277920
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp) rs778981088
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) rs755561471
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys) rs1057516363
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2244G>A (p.Glu748=) rs2510396405
NM_000152.5(GAA):c.2247C>A (p.Ala749=) rs2510396411
NM_000152.5(GAA):c.2248C>T (p.Leu750=) rs2143919200
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) rs1555598675
NM_000152.5(GAA):c.2261dup (p.Val755fs) rs1555602648
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe) rs1432543451
NM_000152.5(GAA):c.2268C>T (p.Leu756=) rs746873847
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2270A>C (p.Gln757Pro)
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg) rs768165130
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn) rs2143919634
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter) rs760063214
NM_000152.5(GAA):c.2289G>A (p.Val763=) rs767871949
NM_000152.5(GAA):c.2289G>C (p.Val763=) rs767871949
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) rs1292367136
NM_000152.5(GAA):c.2294G>T (p.Gly765Val) rs1292367136
NM_000152.5(GAA):c.2296T>C (p.Tyr766His) rs941181575
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2302C>T (p.Pro768Ser)
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg) rs2510396780
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu) rs2510396780
NM_000152.5(GAA):c.2304C>G (p.Pro768=) rs2510396791
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) rs2039369551
NM_000152.5(GAA):c.2307G>A (p.Leu769=) rs372800172
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.230_232dup (p.Ala77_Val78insAla)
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs) rs2143920189
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2314del (p.Trp772fs) rs2510396866
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter) rs377402848
NM_000152.5(GAA):c.2320dup (p.Asp774fs) rs2503634132
NM_000152.5(GAA):c.2325G>A (p.Leu775=) rs2143920372
NM_000152.5(GAA):c.2326C>T (p.Gln776Ter)
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg) rs2510396891
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2331+11G>A
NM_000152.5(GAA):c.2331+12G>A rs769251110
NM_000152.5(GAA):c.2331+12G>C rs769251110
NM_000152.5(GAA):c.2331+12G>T rs769251110
NM_000152.5(GAA):c.2331+14C>T rs772727792
NM_000152.5(GAA):c.2331+19dup rs2510397009
NM_000152.5(GAA):c.2331+1G>A rs780655708
NM_000152.5(GAA):c.2331+1G>C rs780655708
NM_000152.5(GAA):c.2331+20G>T rs2304832
NM_000152.5(GAA):c.2331+2_2331+3del rs2510396923
NM_000152.5(GAA):c.2331+48C>A rs2143921034
NM_000152.5(GAA):c.2331+4A>C rs2039371081
NM_000152.5(GAA):c.2331+4A>G rs2039371081
NM_000152.5(GAA):c.2331+6T>G rs2510396931
NM_000152.5(GAA):c.2331+7C>G rs2510396936
NM_000152.5(GAA):c.2332-12A>G rs200965268
NM_000152.5(GAA):c.2332-16C>T rs2039383167
NM_000152.5(GAA):c.2332-19A>C
NM_000152.5(GAA):c.2332-1G>A rs1555602832
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2332-2A>G rs112098197
NM_000152.5(GAA):c.2332-5T>G rs1276069832
NM_000152.5(GAA):c.2332-7C>A rs2039383516
NM_000152.5(GAA):c.2332-7C>T rs2039383516
NM_000152.5(GAA):c.2332-8C>T rs2143924023
NM_000152.5(GAA):c.2332-9T>C rs2510398815
NM_000152.5(GAA):c.2336C>A (p.Pro779Gln) rs1483942459
NM_000152.5(GAA):c.2337A>G (p.Pro779=) rs1042838087
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) rs1126690
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys) rs906058524
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs) rs2510398841
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe) rs762310752
NM_000152.5(GAA):c.2349T>C (p.Leu783=) rs2510398843
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile) rs2510398857
NM_000152.5(GAA):c.2355C>T (p.Ser785=) rs2143924314
NM_000152.5(GAA):c.2358C>A (p.Leu786=) rs1567839551
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr) rs2510398877
NM_000152.5(GAA):c.235C>T (p.Pro79Ser) rs756342288
NM_000152.5(GAA):c.2361A>G (p.Pro787=) rs1555602853
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr) rs2039384789
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser) rs2039384789
NM_000152.5(GAA):c.2363C>A (p.Pro788His) rs2510398900
NM_000152.5(GAA):c.2364C>T (p.Pro788=) rs2510398909
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln) rs773629231
NM_000152.5(GAA):c.2367A>G (p.Pro789=) rs1012503581
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.2370T>C (p.Pro790=) rs2143924530
NM_000152.5(GAA):c.2380del (p.Arg794fs) rs2143924649
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro) rs200505871
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2385G>A (p.Glu795=) rs1333952509
NM_000152.5(GAA):c.2385del (p.Glu795fs) rs2143924790
NM_000152.5(GAA):c.2388A>G (p.Pro796=) rs2510399152
NM_000152.5(GAA):c.238A>G (p.Thr80Ala)
NM_000152.5(GAA):c.2391C>G (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2393T>C (p.Ile798Thr)
NM_000152.5(GAA):c.2395del (p.His799fs) rs2510399226
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile) rs2510399260
NM_000152.5(GAA):c.2402del (p.Glu801fs) rs2510399333
NM_000152.5(GAA):c.2403G>A (p.Glu801=) rs2143924963
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) rs763048948
NM_000152.5(GAA):c.2409G>A (p.Gln803=) rs778506693
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg) rs2143925115
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter) rs2143925134
NM_000152.5(GAA):c.2415G>T (p.Val805=) rs150536507
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro) rs777342777
NM_000152.5(GAA):c.2418G>T (p.Thr806=) rs371528938
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2427C>T (p.Ala809=) rs766325117
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser) rs774470696
NM_000152.5(GAA):c.242del (p.Gln81fs) rs2510345577
NM_000152.5(GAA):c.2430C>G (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2431C>G (p.Leu811Val) rs2039387666
NM_000152.5(GAA):c.2431dup (p.Leu811fs) rs2143925402
NM_000152.5(GAA):c.2432del (p.Leu811fs) rs766560578
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn) rs1433117170
NM_000152.5(GAA):c.2435A>T (p.Asp812Val)
NM_000152.5(GAA):c.2439C>A (p.Thr813=) rs2143925559
NM_000152.5(GAA):c.2439C>T (p.Thr813=) rs2143925559
NM_000152.5(GAA):c.2442C>T (p.Ile814=) rs2510399743
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr) rs1365945556
NM_000152.5(GAA):c.244T>C (p.Cys82Arg) rs1252748852
NM_000152.5(GAA):c.2451C>T (p.His817=) rs753382861
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe) rs2039388491
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro) rs2510399842
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) rs374687883
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) rs1182634884
NM_000152.5(GAA):c.2463G>C (p.Gly821=) rs923989221
NM_000152.5(GAA):c.2466C>T (p.Tyr822=) rs2039389205
NM_000152.5(GAA):c.2467A>C (p.Ile823Leu)
NM_000152.5(GAA):c.2467A>G (p.Ile823Val) rs758038288
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.2469C>T (p.Ile823=) rs2510399920
NM_000152.5(GAA):c.246C>A (p.Cys82Ter) rs749584846
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs) rs2143926009
NM_000152.5(GAA):c.2472C>A (p.Ile824=) rs2039389492
NM_000152.5(GAA):c.2472C>T (p.Ile824=) rs2039389492
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu) rs886042703
NM_000152.5(GAA):c.2475C>T (p.Pro825=) rs781739778
NM_000152.5(GAA):c.2476del (p.Leu826fs) rs2510399942
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg) rs1555602967
NM_000152.5(GAA):c.2481+10C>A rs1455854127
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2481+1G>A rs2510400033
NM_000152.5(GAA):c.2481+1G>T rs2510400033
NM_000152.5(GAA):c.2481+5C>G rs1598592432
NM_000152.5(GAA):c.2481+7G>A rs770240317
NM_000152.5(GAA):c.2481+8G>T rs1411628458
NM_000152.5(GAA):c.2482-12T>C rs2510401945
NM_000152.5(GAA):c.2482-17T>C rs1598593117
NM_000152.5(GAA):c.2482-1G>T rs2510402002
NM_000152.5(GAA):c.2482-5T>C rs1290870969
NM_000152.5(GAA):c.2482-8C>A rs1407022252
NM_000152.5(GAA):c.2482-8C>G rs1407022252
NM_000152.5(GAA):c.2482-8C>T rs1407022252
NM_000152.5(GAA):c.2482-9C>A rs753210535
NM_000152.5(GAA):c.2482-9C>T rs753210535
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000152.5(GAA):c.2483del rs2510402010
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg) rs778187006
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) rs1598593166
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala) rs2510402049
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2496A>C (p.Thr832=) rs2143929451
NM_000152.5(GAA):c.2496A>G (p.Thr832=) rs2143929451
NM_000152.5(GAA):c.24C>T (p.Cys8=) rs2510344093
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2502dup (p.Glu835fs) rs2510402131
NM_000152.5(GAA):c.2511C>T (p.Arg837=) rs2039402316
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) rs920085419
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala) rs930247743
NM_000152.5(GAA):c.2520C>T (p.Pro840=) rs1054395487
NM_000152.5(GAA):c.2523G>C (p.Met841Ile) rs1555603087
NM_000152.5(GAA):c.2525C>T (p.Ala842Val) rs2143929732
NM_000152.5(GAA):c.2526C>G (p.Ala842=) rs886038259
NM_000152.5(GAA):c.2527C>G (p.Leu843Val) rs2143929760
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro) rs775524898
NM_000152.5(GAA):c.2529G>A (p.Leu843=) rs2039403061
NM_000152.5(GAA):c.2529G>C (p.Leu843=) rs2039403061
NM_000152.5(GAA):c.252C>A (p.Val84=) rs775079960
NM_000152.5(GAA):c.252C>T (p.Val84=) rs775079960
NM_000152.5(GAA):c.2539C>T (p.Leu847=) rs768632516
NM_000152.5(GAA):c.2544C>G (p.Thr848=) rs776487269
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter) rs2039403673
NM_000152.5(GAA):c.2550T>G (p.Gly850=) rs761608706
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu) rs764943318
NM_000152.5(GAA):c.2553G>C (p.Gly851=) rs1042397
NM_000152.5(GAA):c.2553_2554delinsAT (p.Glu852Ter)
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter) rs2510402647
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly) rs2039404008
NM_000152.5(GAA):c.2559C>G (p.Ala853=) rs2143930088
NM_000152.5(GAA):c.255C>G (p.Pro85=) rs1448106804
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys) rs1039438307
NM_000152.5(GAA):c.2571G>A (p.Leu857=) rs17853996
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter) rs757577323
NM_000152.5(GAA):c.257C>A (p.Pro86His) rs2229222
NM_000152.5(GAA):c.2581G>C (p.Asp861His) rs372604133
NM_000152.5(GAA):c.2583T>C (p.Asp861=) rs1390335254
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) rs1555603113
NM_000152.5(GAA):c.2585del (p.Gly862fs)
NM_000152.5(GAA):c.258C>G (p.Pro86=) rs146615896
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2593C>T (p.Leu865=) rs2143930457
NM_000152.5(GAA):c.2595G>A (p.Leu865=) rs2143930470
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala) rs951742543
NM_000152.5(GAA):c.2598A>G (p.Glu866=) rs1445358978
NM_000152.5(GAA):c.259A>C (p.Asn87His) rs776261707
NM_000152.5(GAA):c.2604G>T (p.Leu868=) rs772250523
NM_000152.5(GAA):c.2608C>A (p.Arg870=) rs780321415
NM_000152.5(GAA):c.2608C>G (p.Arg870Gly)
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) rs1555603131
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter) rs1555603132
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter) rs1555603132
NM_000152.5(GAA):c.261C>G (p.Asn87Lys) rs1052555748
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter) rs2143930800
NM_000152.5(GAA):c.2625G>A (p.Gln875=) rs2039406110
NM_000152.5(GAA):c.2637G>A (p.Leu879=) rs2039406388
NM_000152.5(GAA):c.2642_2643delinsC (p.Arg881fs)
NM_000152.5(GAA):c.2643G>A (p.Arg881=) rs1160268139
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs) rs2510403029
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser) rs2510403032
NM_000152.5(GAA):c.2646+16G>A
NM_000152.5(GAA):c.2646+19C>G
NM_000152.5(GAA):c.2646+19C>T rs766128434
NM_000152.5(GAA):c.2646+1G>A rs2143931061
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2646+2T>G rs786204561
NM_000152.5(GAA):c.2646+3G>A rs1296908953
NM_000152.5(GAA):c.2646+4A>C rs2510403085
NM_000152.5(GAA):c.2646+4A>G rs2510403085
NM_000152.5(GAA):c.2646+7C>G rs2143931099
NM_000152.5(GAA):c.2646+7C>T rs2143931099
NM_000152.5(GAA):c.2646+8C>T rs773123506
NM_000152.5(GAA):c.2646+8del rs2039406901
NM_000152.5(GAA):c.2646+9T>C rs1231487778
NM_000152.5(GAA):c.2647-10C>T rs2143933140
NM_000152.5(GAA):c.2647-11G>C rs2039413131
NM_000152.5(GAA):c.2647-12dup rs1488128208
NM_000152.5(GAA):c.2647-14T>A rs2510403993
NM_000152.5(GAA):c.2647-15C>G rs1567840763
NM_000152.5(GAA):c.2647-17C>G rs1246157338
NM_000152.5(GAA):c.2647-1_2648del rs1555603216
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2647-20TC[3]
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2647-25_2647-18del rs2510403963
NM_000152.5(GAA):c.2647-2A>G rs2510404041
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2647-71G>C rs4889821
NM_000152.5(GAA):c.2647-7G>C rs192679574
NM_000152.5(GAA):c.2647-7G>T rs192679574
NM_000152.5(GAA):c.2647-8C>G rs139201641
NM_000152.5(GAA):c.2649C>T (p.Asn883=)
NM_000152.5(GAA):c.264C>G (p.Ser88Arg) rs1470933192
NM_000152.5(GAA):c.2652G>C (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2652G>T (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2655C>A (p.Ile885=) rs774840779
NM_000152.5(GAA):c.2655_2656del (p.Val886fs) rs1555603219
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer) rs2510404093
NM_000152.5(GAA):c.2658G>T (p.Val886=) rs2510404104
NM_000152.5(GAA):c.265C>A (p.Arg89Ser) rs534192892
NM_000152.5(GAA):c.2665C>T (p.Leu889=) rs750939444
NM_000152.5(GAA):c.266G>T (p.Arg89Leu) rs200586324
NM_000152.5(GAA):c.2670A>G (p.Val890=)
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) rs199524847
NM_000152.5(GAA):c.2672del (p.Arg891fs) rs2510404144
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter) rs2510404152
NM_000152.5(GAA):c.2676G>A (p.Val892=) rs2510404159
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile) rs2510404168
NM_000152.5(GAA):c.267C>T (p.Arg89=) rs2039036067
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly) rs2510404218
NM_000152.5(GAA):c.268T>A (p.Phe90Ile) rs755402236
NM_000152.5(GAA):c.2695C>T (p.Leu899=) rs1293831077
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg) rs2510404278
NM_000152.5(GAA):c.2697G>T (p.Leu899=) rs2143933626
NM_000152.5(GAA):c.26C>T (p.Ser9Phe) rs1598568879
NM_000152.5(GAA):c.2701del (p.Leu901fs) rs2510404321
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln) rs2510404334
NM_000152.5(GAA):c.2702dup (p.Gln902fs) rs2510404344
NM_000152.5(GAA):c.2703G>A (p.Leu901=) rs2143933710
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2704_2709del (p.Gln902_Lys903del)
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) rs1057516189
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg) rs2510404383
NM_000152.5(GAA):c.2706G>A (p.Gln902=) rs2039415234
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser) rs2510404462
NM_000152.5(GAA):c.2718C>T (p.Val906=) rs2510404493
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr) rs1800299
NM_000152.5(GAA):c.2721G>A (p.Leu907=) rs2143933909
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser) rs2039415739
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys) rs2039415739
NM_000152.5(GAA):c.2723G>T (p.Gly908Val) rs2143933949
NM_000152.5(GAA):c.2723del (p.Gly908fs) rs2510404506
NM_000152.5(GAA):c.2729C>T (p.Ala910Val) rs2510404554
NM_000152.5(GAA):c.2730C>A (p.Ala910=) rs2143934007
NM_000152.5(GAA):c.2734del (p.Ala912fs) rs2510404583
NM_000152.5(GAA):c.2735C>G (p.Ala912Gly)
NM_000152.5(GAA):c.2736G>T (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2739C>T (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2740dup (p.Gln914fs) rs745427943
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro) rs1242967806
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs) rs2510404705
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter) rs2510404730
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro) rs1555603272
NM_000152.5(GAA):c.2745G>C (p.Gln915His) rs2143934282
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) rs1221948995
NM_000152.5(GAA):c.2751C>G (p.Leu917=) rs146507838
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) rs773667152
NM_000152.5(GAA):c.2754C>A (p.Ser918=) rs1598594382
NM_000152.5(GAA):c.2757del (p.Asn919fs) rs1555603283
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys) rs375021198
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp) rs2510404876
NM_000152.5(GAA):c.2760T>C (p.Gly920=) rs2143934482
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) rs1555603286
NM_000152.5(GAA):c.2766T>C (p.Pro922=) rs2143934535
NM_000152.5(GAA):c.2769C>A (p.Val923=) rs1272166322
NM_000152.5(GAA):c.2769C>T (p.Val923=) rs1272166322
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2772C>G (p.Ser924=) rs2039417635
NM_000152.5(GAA):c.2772C>T (p.Ser924=) rs2039417635
NM_000152.5(GAA):c.2772del (p.Asn925fs) rs2510405069
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.5(GAA):c.2784C>T (p.Tyr928=) rs752980377
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) rs1598594483
NM_000152.5(GAA):c.2790C>A (p.Pro930=)
NM_000152.5(GAA):c.2790C>G (p.Pro930=)
NM_000152.5(GAA):c.2790C>T (p.Pro930=) rs2039418269
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn) rs756199247
NM_000152.5(GAA):c.2796C>T (p.Thr932=) rs2143934830
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg) rs2510405291
NM_000152.5(GAA):c.2799+10C>G rs1482012226
NM_000152.5(GAA):c.2799+10C>T rs1482012226
NM_000152.5(GAA):c.2799+13A>C rs2510405387
NM_000152.5(GAA):c.2799+15A>C rs2510405404
NM_000152.5(GAA):c.2799+16G>A rs757239086
NM_000152.5(GAA):c.2799+17T>C rs1598594556
NM_000152.5(GAA):c.2799+18G>A rs779034370
NM_000152.5(GAA):c.2799+18G>T rs779034370
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.2799+2C>G rs1555603318
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.2799+4A>T rs778032599
NM_000152.5(GAA):c.2799+5G>A rs2510405328
NM_000152.5(GAA):c.2799G>A (p.Lys933=)
NM_000152.5(GAA):c.2800-10T>C rs2143938123
NM_000152.5(GAA):c.2800-11C>T rs374571499
NM_000152.5(GAA):c.2800-13del rs2510407011
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.2800-18G>C
NM_000152.5(GAA):c.2800-1G>A rs1328159128
NM_000152.5(GAA):c.2800-20T>A rs2039428978
NM_000152.5(GAA):c.2800-6T>C rs2143938183
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.2800-9C>T rs886053547
NM_000152.5(GAA):c.2808C>T (p.Asp936=)
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) rs1555603411
NM_000152.5(GAA):c.2812del (p.Cys938fs) rs2510407100
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.2817C>T (p.Val939=) rs2143938445
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.2820G>C (p.Ser940=) rs992579033
NM_000152.5(GAA):c.2821C>T (p.Leu941=) rs2039430179
NM_000152.5(GAA):c.2823G>A (p.Leu941=) rs2039430227
NM_000152.5(GAA):c.2824T>C (p.Leu942=) rs780885711
NM_000152.5(GAA):c.2826G>A (p.Leu942=) rs866970316
NM_000152.5(GAA):c.2829G>A (p.Met943Ile) rs2039430526
NM_000152.5(GAA):c.282T>C (p.Pro94=) rs1270070238
NM_000152.5(GAA):c.282del (p.Asp95fs) rs2143826963
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs) rs2510407224
NM_000152.5(GAA):c.2844C>T (p.Leu948=) rs774656713
NM_000152.5(GAA):c.2845G>C (p.Val949Leu)
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) rs1555603436
NM_000152.5(GAA):c.2853del (p.Trp951fs) rs1555603434
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln) rs775903485
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) rs958648168
NM_000152.5(GAA):c.2859G>A (p.Ter953=) rs1334316018
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) rs1334316018
NM_000152.5(GAA):c.288G>A (p.Lys96=)
NM_000152.5(GAA):c.289G>A (p.Ala97Thr) rs2143827017
NM_000152.5(GAA):c.297C>G (p.Thr99=) rs771846178
NM_000152.5(GAA):c.298C>G (p.Gln100Glu) rs780027584
NM_000152.5(GAA):c.29A>T (p.His10Leu) rs2143823914
NM_000152.5(GAA):c.2T>C (p.Met1Thr) rs2039024047
NM_000152.5(GAA):c.300G>A (p.Gln100=) rs2143827134
NM_000152.5(GAA):c.303A>G (p.Glu101=) rs2143827161
NM_000152.5(GAA):c.304C>T (p.Gln102Ter) rs1432841878
NM_000152.5(GAA):c.307T>C (p.Cys103Arg) rs398123174
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr) rs2143827215
NM_000152.5(GAA):c.309C>A (p.Cys103Ter) rs373307393
NM_000152.5(GAA):c.309C>G (p.Cys103Trp) rs373307393
NM_000152.5(GAA):c.30C>T (p.His10=) rs2039025311
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.310G>C (p.Glu104Gln) rs201902338
NM_000152.5(GAA):c.311_313del (p.Glu104del) rs2039038181
NM_000152.5(GAA):c.316C>G (p.Arg106Gly) rs915675670
NM_000152.5(GAA):c.318C>A (p.Arg106=) rs762542246
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup) rs2143827403
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) rs772394815
NM_000152.5(GAA):c.322T>A (p.Cys108Ser) rs2039038743
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr) rs2039038796
NM_000152.5(GAA):c.32G>T (p.Arg11Leu) rs138812846
NM_000152.5(GAA):c.330C>T (p.Tyr110=) rs2510346055
NM_000152.5(GAA):c.333C>T (p.Ile111=) rs1218502799
NM_000152.5(GAA):c.340_341insT (p.Lys114fs) rs2143827701
NM_000152.5(GAA):c.341A>G (p.Lys114Arg) rs764501597
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.347G>A (p.Gly116Glu) rs754285414
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.5(GAA):c.348G>T (p.Gly116=) rs2143827789
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) rs1555598802
NM_000152.5(GAA):c.355G>T (p.Gly119Ter) rs1555598802
NM_000152.5(GAA):c.357A>C (p.Gly119=) rs2510346373
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) rs750668627
NM_000152.5(GAA):c.368G>T (p.Gly123Val) rs138034915
NM_000152.5(GAA):c.370C>T (p.Gln124Ter)
NM_000152.5(GAA):c.371_381del (p.Gln124fs) rs2510346450
NM_000152.5(GAA):c.372G>A (p.Gln124=) rs899924363
NM_000152.5(GAA):c.376del (p.Trp126fs) rs1555598824
NM_000152.5(GAA):c.377G>A (p.Trp126Ter) rs1011631903
NM_000152.5(GAA):c.378G>A (p.Trp126Ter) rs2039041225
NM_000152.5(GAA):c.379_380del (p.Cys127fs) rs1207988953
NM_000152.5(GAA):c.381C>T (p.Cys127=) rs1358275935
NM_000152.5(GAA):c.383T>C (p.Phe128Ser) rs2039041547
NM_000152.5(GAA):c.389del (p.Pro130fs) rs2510346546
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) rs1555598846
NM_000152.5(GAA):c.393C>G (p.Pro131=) rs769276948
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.396C>G (p.Ser132Arg) rs2143828304
NM_000152.5(GAA):c.396dup (p.Tyr133fs) rs2510346597
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter) rs2039042313
NM_000152.5(GAA):c.399C>T (p.Tyr133=) rs2039042313
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.3G>T (p.Met1Ile)
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys) rs2510346640
NM_000152.5(GAA):c.40_47del (p.Ala14fs) rs2510344258
NM_000152.5(GAA):c.411G>A (p.Lys137=) rs1204640071
NM_000152.5(GAA):c.414G>A (p.Leu138=) rs2510346666
NM_000152.5(GAA):c.415G>A (p.Glu139Lys) rs552901793
NM_000152.5(GAA):c.419A>T (p.Asn140Ile) rs2510346688
NM_000152.5(GAA):c.41C>T (p.Ala14Val) rs1221096819
NM_000152.5(GAA):c.421C>A (p.Leu141Met) rs1379595858
NM_000152.5(GAA):c.423G>A (p.Leu141=) rs2143828533
NM_000152.5(GAA):c.423G>T (p.Leu141=) rs2143828533
NM_000152.5(GAA):c.424_440del (p.Ser142fs) rs2510346727
NM_000152.5(GAA):c.427T>G (p.Ser143Ala) rs1423110429
NM_000152.5(GAA):c.42C>T (p.Ala14=) rs141377453
NM_000152.5(GAA):c.433G>A (p.Glu145Lys) rs2143828679
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter) rs886043112
NM_000152.5(GAA):c.446C>A (p.Thr149Lys) rs750628023
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) rs991177340
NM_000152.5(GAA):c.448dup (p.Ala150fs) rs1555598880
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) rs1567826289
NM_000152.5(GAA):c.456G>C (p.Leu152=) rs1477781307
NM_000152.5(GAA):c.456_457dup (p.Thr153fs) rs2143829023
NM_000152.5(GAA):c.459C>G (p.Thr153=) rs751672437
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.461G>C (p.Arg154Pro) rs781124934
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del) rs2039044722
NM_000152.5(GAA):c.465C>T (p.Thr155=)
NM_000152.5(GAA):c.465dup (p.Thr156fs) rs2510347067
NM_000152.5(GAA):c.466A>T (p.Thr156Ser) rs1598570529
NM_000152.5(GAA):c.467C>A (p.Thr156Asn) rs1394741472
NM_000152.5(GAA):c.467C>T (p.Thr156Ile) rs1394741472
NM_000152.5(GAA):c.468C>G (p.Thr156=) rs145849611
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.482C>A (p.Pro161His) rs201756874
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.483C>T (p.Pro161=)
NM_000152.5(GAA):c.485A>G (p.Lys162Arg) rs1205319348
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer) rs2510347326
NM_000152.5(GAA):c.497C>T (p.Thr166Ile) rs2510347370
NM_000152.5(GAA):c.498C>T (p.Thr166=) rs2039046096
NM_000152.5(GAA):c.498_510del (p.Thr166_Leu167insTer)
NM_000152.5(GAA):c.499C>T (p.Leu167=) rs2510347381
NM_000152.5(GAA):c.49G>T (p.Ala17Ser) rs751425831
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000152.5(GAA):c.501G>A (p.Leu167=) rs1276415397
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=) rs2143829361
NM_000152.5(GAA):c.502C>A (p.Arg168=) rs777473001
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) rs376685205
NM_000152.5(GAA):c.504G>T (p.Arg168=) rs2510347430
NM_000152.5(GAA):c.510C>A (p.Asp170Glu)
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer) rs2143829478
NM_000152.5(GAA):c.513G>C (p.Val171=) rs1246384503
NM_000152.5(GAA):c.515T>C (p.Met172Thr) rs1417028580
NM_000152.5(GAA):c.520_526del (p.Glu174fs) rs2510347530
NM_000152.5(GAA):c.522G>A (p.Glu174=) rs771765461
NM_000152.5(GAA):c.525T>C (p.Thr175=) rs2039047153
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.528_529del (p.Asn177fs) rs2143829649
NM_000152.5(GAA):c.52C>T (p.Leu18Phe) rs1487798738
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.534C>G (p.Arg178=) rs765613378
NM_000152.5(GAA):c.541_545del (p.Phe181fs)
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.5(GAA):c.545C>T (p.Thr182Met) rs200524747
NM_000152.5(GAA):c.546+10G>A rs2510347681
NM_000152.5(GAA):c.546+12_546+17del rs1567826548
NM_000152.5(GAA):c.546+12_546+17dup rs1567826548
NM_000152.5(GAA):c.546+13GGGGCG[3] rs2039049083
NM_000152.5(GAA):c.546+16G>A rs1043184942
NM_000152.5(GAA):c.546+16G>C rs1043184942
NM_000152.5(GAA):c.546+16G>T rs1043184942
NM_000152.5(GAA):c.546+1G>T rs2510347650
NM_000152.5(GAA):c.546+20G>A rs2510347703
NM_000152.5(GAA):c.546+20_546+25del rs2039049083
NM_000152.5(GAA):c.546+2T>C rs2510347655
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000152.5(GAA):c.546+3GGGCA[3] rs756530498
NM_000152.5(GAA):c.546+5G>A rs756024023
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546+7A>G rs1329049814
NM_000152.5(GAA):c.546+7_546+12del rs2510347674
NM_000152.5(GAA):c.546+9G>A rs2143829950
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.547-15C>T rs1363944212
NM_000152.5(GAA):c.547-16C>A
NM_000152.5(GAA):c.547-16C>G rs2039066932
NM_000152.5(GAA):c.547-1G>C rs2143833579
NM_000152.5(GAA):c.547-4C>A rs3816256
NM_000152.5(GAA):c.547-5_547-4delinsGG rs2510350159
NM_000152.5(GAA):c.547-9C>T rs746507322
NM_000152.5(GAA):c.547A>G (p.Ile183Val) rs2039067728
NM_000152.5(GAA):c.54C>G (p.Leu18=) rs886053542
NM_000152.5(GAA):c.54C>T (p.Leu18=) rs886053542
NM_000152.5(GAA):c.552A>G (p.Lys184=) rs2510350196
NM_000152.5(GAA):c.557C>A (p.Pro186Gln) rs2510350238
NM_000152.5(GAA):c.55del (p.Val19fs) rs1555598544
NM_000152.5(GAA):c.564C>T (p.Asn188=) rs2039068461
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) rs1598571878
NM_000152.5(GAA):c.567G>A (p.Arg189=) rs2510350317
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp) rs149295512
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys) rs2039069093
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.579G>A (p.Val193=) rs764299738
NM_000152.5(GAA):c.583T>C (p.Leu195=) rs1323831512
NM_000152.5(GAA):c.584T>A (p.Leu195Ter) rs2510350392
NM_000152.5(GAA):c.587del (p.Glu196fs) rs2510350400
NM_000152.5(GAA):c.590C>A (p.Thr197Asn) rs761890037
NM_000152.5(GAA):c.590C>T (p.Thr197Ile) rs761890037
NM_000152.5(GAA):c.593C>A (p.Pro198Gln) rs765075888
NM_000152.5(GAA):c.593C>T (p.Pro198Leu) rs765075888
NM_000152.5(GAA):c.594G>C (p.Pro198=) rs1426823689
NM_000152.5(GAA):c.594G>T (p.Pro198=) rs1426823689
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
NM_000152.5(GAA):c.596A>T (p.His199Leu) rs1042393
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs) rs2510350438
NM_000152.5(GAA):c.599T>A (p.Val200Asp) rs758058898
NM_000152.5(GAA):c.59C>G (p.Ser20Cys) rs752449306
NM_000152.5(GAA):c.5G>C (p.Gly2Ala) rs1245992455
NM_000152.5(GAA):c.609G>T (p.Arg203=) rs1247872563
NM_000152.5(GAA):c.612A>G (p.Ala204=) rs2510350487
NM_000152.5(GAA):c.613C>G (p.Pro205Ala) rs1341008786
NM_000152.5(GAA):c.613C>T (p.Pro205Ser) rs1341008786
NM_000152.5(GAA):c.616T>C (p.Ser206Pro) rs1438918341
NM_000152.5(GAA):c.618C>A (p.Ser206=) rs146292898
NM_000152.5(GAA):c.618C>G (p.Ser206=) rs146292898
NM_000152.5(GAA):c.619C>T (p.Pro207Ser) rs2510350535
NM_000152.5(GAA):c.621A>C (p.Pro207=) rs772482115
NM_000152.5(GAA):c.623T>C (p.Leu208Pro) rs2039071572
NM_000152.5(GAA):c.624C>G (p.Leu208=) rs2143834295
NM_000152.5(GAA):c.627C>T (p.Tyr209=) rs1460607546
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) rs1555599099
NM_000152.5(GAA):c.633G>A (p.Val211=) rs2143834416
NM_000152.5(GAA):c.637T>C (p.Phe213Leu) rs2510350592
NM_000152.5(GAA):c.639C>T (p.Phe213=) rs2143834450
NM_000152.5(GAA):c.639del (p.Ser214fs) rs2143834462
NM_000152.5(GAA):c.642C>A (p.Ser214=) rs1800301
NM_000152.5(GAA):c.643G>T (p.Glu215Ter) rs201286896
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) rs1567827215
NM_000152.5(GAA):c.651C>A (p.Pro217=) rs2039072589
NM_000152.5(GAA):c.656G>A (p.Gly219Glu) rs2510350807
NM_000152.5(GAA):c.657G>A (p.Gly219=) rs2039072905
NM_000152.5(GAA):c.658dup (p.Val220fs) rs2143834640
NM_000152.5(GAA):c.663C>A (p.Ile221=) rs142878958
NM_000152.5(GAA):c.663C>G (p.Ile221Met) rs142878958
NM_000152.5(GAA):c.666G>A (p.Val222=) rs2510350918
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) rs886043961
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr) rs2143834814
NM_000152.5(GAA):c.671G>C (p.Arg224Pro) rs200210219
NM_000152.5(GAA):c.671G>T (p.Arg224Leu) rs200210219
NM_000152.5(GAA):c.678G>T (p.Leu226=) rs1373841185
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr) rs1477774826
NM_000152.5(GAA):c.683dup (p.Arg229fs) rs2143834983
NM_000152.5(GAA):c.684C>T (p.Gly228=) rs2039074294
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) rs776509432
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.688G>C (p.Val230Leu) rs145866792
NM_000152.5(GAA):c.68C>T (p.Thr23Ile) rs2039027538
NM_000152.5(GAA):c.692+12G>A rs1326313088
NM_000152.5(GAA):c.692+12G>T rs1326313088
NM_000152.5(GAA):c.692+17G>A rs199559553
NM_000152.5(GAA):c.692+1G>A rs773281453
NM_000152.5(GAA):c.692+1G>C rs773281453
NM_000152.5(GAA):c.692+1G>T rs773281453
NM_000152.5(GAA):c.692+20C>T rs2510351099
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.692+8C>G rs1234319092
NM_000152.5(GAA):c.693-10T>C rs2143845612
NM_000152.5(GAA):c.693-11C>G rs2510357193
NM_000152.5(GAA):c.693-13C>T rs760379754
NM_000152.5(GAA):c.693-14C>T rs2510357164
NM_000152.5(GAA):c.693-19G>C rs1271276827
NM_000152.5(GAA):c.693-19G>T rs1271276827
NM_000152.5(GAA):c.693-1G>A
NM_000152.5(GAA):c.693-1G>C rs2143845687
NM_000152.5(GAA):c.693-20G>A rs2039114713
NM_000152.5(GAA):c.693-2A>C rs1555599571
NM_000152.5(GAA):c.693-4G>A rs200088236
NM_000152.5(GAA):c.693-5C>G rs763538104
NM_000152.5(GAA):c.693-5del rs1555599563
NM_000152.5(GAA):c.693-6C>G rs2143845646
NM_000152.5(GAA):c.693-6C>T rs2143845646
NM_000152.5(GAA):c.693-7C>T rs2039114989
NM_000152.5(GAA):c.693-9G>C rs2510357215
NM_000152.5(GAA):c.69C>A (p.Thr23=) rs746351336
NM_000152.5(GAA):c.700A>G (p.Thr234Ala) rs766931184
NM_000152.5(GAA):c.703A>G (p.Thr235Ala) rs781731240
NM_000152.5(GAA):c.708G>A (p.Val236=) rs1308198041
NM_000152.5(GAA):c.708G>T (p.Val236=) rs1308198041
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.711G>C (p.Ala237=) rs368328598
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.712C>T (p.Pro238Ser) rs1294294268
NM_000152.5(GAA):c.715_716del (p.Leu239fs)
NM_000152.5(GAA):c.716T>C (p.Leu239Pro) rs2143845990
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.717G>T (p.Leu239=) rs2039116356
NM_000152.5(GAA):c.722_723del (p.Phe241fs) rs2039116471
NM_000152.5(GAA):c.723T>C (p.Phe241=) rs1160112655
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.726G>C (p.Ala242=) rs148578399
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs) rs2510357510
NM_000152.5(GAA):c.729C>A (p.Asp243Glu)
NM_000152.5(GAA):c.729C>T (p.Asp243=) rs2510357518
NM_000152.5(GAA):c.735C>T (p.Phe245=) rs1264222457
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) rs1555599608
NM_000152.5(GAA):c.739C>T (p.Gln247Ter) rs2510357571
NM_000152.5(GAA):c.73G>A (p.Ala25Thr)
NM_000152.5(GAA):c.741G>A (p.Gln247=) rs2039117126
NM_000152.5(GAA):c.742C>T (p.Leu248=) rs2510357603
NM_000152.5(GAA):c.747C>G (p.Ser249=) rs1555599614
NM_000152.5(GAA):c.747C>T (p.Ser249=) rs1555599614
NM_000152.5(GAA):c.74C>T (p.Ala25Val) rs768867363
NM_000152.5(GAA):c.750C>T (p.Thr250=) rs2143846283
NM_000152.5(GAA):c.752C>G (p.Ser251Trp) rs200856561
NM_000152.5(GAA):c.753G>T (p.Ser251=) rs761363283
NM_000152.5(GAA):c.754C>T (p.Leu252=) rs1598575013
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.756G>A (p.Leu252=) rs2510357775
NM_000152.5(GAA):c.757C>T (p.Pro253Ser) rs2143846362
NM_000152.5(GAA):c.759C>T (p.Pro253=) rs1352216789
NM_000152.5(GAA):c.759del (p.Ser254fs) rs2039117815
NM_000152.5(GAA):c.75A>C (p.Ala25=) rs1366159150
NM_000152.5(GAA):c.75A>G (p.Ala25=) rs1366159150
NM_000152.5(GAA):c.75A>T (p.Ala25=) rs1366159150
NM_000152.5(GAA):c.763C>T (p.Gln255Ter) rs2039118159
NM_000152.5(GAA):c.765G>A (p.Gln255=) rs1450999199
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) rs1555599637
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.774A>C (p.Thr258=) rs753112231
NM_000152.5(GAA):c.774A>G (p.Thr258=) rs753112231
NM_000152.5(GAA):c.775G>A (p.Gly259Ser) rs2143846660
NM_000152.5(GAA):c.777C>G (p.Gly259=) rs1319695388
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) rs1385098269
NM_000152.5(GAA):c.781G>C (p.Ala261Pro) rs543360994
NM_000152.5(GAA):c.782C>T (p.Ala261Val) rs2143846719
NM_000152.5(GAA):c.783C>A (p.Ala261=) rs757356178
NM_000152.5(GAA):c.786G>A (p.Glu262=) rs2510357999
NM_000152.5(GAA):c.787C>T (p.His263Tyr) rs1555599660
NM_000152.5(GAA):c.78C>T (p.Leu26=) rs2143824668
NM_000152.5(GAA):c.792C>G (p.Leu264=) rs2143846838
NM_000152.5(GAA):c.792C>T (p.Leu264=) rs2143846838
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.796C>A (p.Pro266Thr) rs1555599667
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs) rs2039120342
NM_000152.5(GAA):c.79C>T (p.Leu27=) rs538605208
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.807C>G (p.Leu269=) rs2510358101
NM_000152.5(GAA):c.809G>A (p.Ser270Asn) rs1429834723
NM_000152.5(GAA):c.810C>T (p.Ser270=)
NM_000152.5(GAA):c.816C>G (p.Ser272Arg) rs1405999158
NM_000152.5(GAA):c.816C>T (p.Ser272=) rs1405999158
NM_000152.5(GAA):c.822C>T (p.Thr274=) rs2510358236
NM_000152.5(GAA):c.827_845del (p.Ile276fs) rs2143847172
NM_000152.5(GAA):c.829_830del (p.Thr277fs) rs2510358298
NM_000152.5(GAA):c.829_851del (p.Thr277fs)
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) rs1598575278
NM_000152.5(GAA):c.831C>T (p.Thr277=)
NM_000152.5(GAA):c.836G>A (p.Trp279Ter) rs2039122730
NM_000152.5(GAA):c.83G>A (p.Gly28Glu)
NM_000152.5(GAA):c.840_842dup (p.Arg281dup) rs2039123030
NM_000152.5(GAA):c.841C>A (p.Arg281=) rs142967546
NM_000152.5(GAA):c.844G>C (p.Asp282His) rs1264889089
NM_000152.5(GAA):c.846C>T (p.Asp282=) rs1008936778
NM_000152.5(GAA):c.849T>C (p.Leu283=) rs2143847519
NM_000152.5(GAA):c.84G>A (p.Gly28=) rs769733901
NM_000152.5(GAA):c.84G>C (p.Gly28=) rs769733901
NM_000152.5(GAA):c.84dup (p.His29fs) rs2510344492
NM_000152.5(GAA):c.851C>A (p.Ala284Glu) rs147569830
NM_000152.5(GAA):c.851C>T (p.Ala284Val) rs147569830
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.856del (p.Thr286fs) rs2510358559
NM_000152.5(GAA):c.858+10C>A rs758283022
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+11G>T
NM_000152.5(GAA):c.858+12G>C rs1361190610
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+19G>T rs1406817344
NM_000152.5(GAA):c.858+1G>A rs2510358612
NM_000152.5(GAA):c.858+20G>T rs2510358867
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.858+4C>G rs886042706
NM_000152.5(GAA):c.858+5A>G rs2039124887
NM_000152.5(GAA):c.858+5_858+11dup rs2039124972
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insACCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT rs372331052
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC rs3071247
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT rs1555599729
NM_000152.5(GAA):c.858+9G>A rs2510358786
NM_000152.5(GAA):c.859-10C>T rs2143848802
NM_000152.5(GAA):c.859-14C>G rs755990698
NM_000152.5(GAA):c.859-14C>T rs755990698
NM_000152.5(GAA):c.859-16C>A rs1277586933
NM_000152.5(GAA):c.859-18G>C rs377222482
NM_000152.5(GAA):c.859-1G>C rs2510359114
NM_000152.5(GAA):c.859-20C>T rs1358706618
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.859-4C>T rs749017942
NM_000152.5(GAA):c.859-5C>T rs2143848848
NM_000152.5(GAA):c.859-7G>A rs777262966
NM_000152.5(GAA):c.859-8T>G rs2143848824
NM_000152.5(GAA):c.859-9A>G rs888669731
NM_000152.5(GAA):c.861C>G (p.Pro287=) rs778580823
NM_000152.5(GAA):c.866C>A (p.Ala289Glu) rs145903608
NM_000152.5(GAA):c.867G>T (p.Ala289=) rs534515557
NM_000152.5(GAA):c.870C>T (p.Asn290=) rs2510359224
NM_000152.5(GAA):c.872T>C (p.Leu291Pro) rs2143849151
NM_000152.5(GAA):c.873_874del (p.Tyr292fs) rs2510359227
NM_000152.5(GAA):c.874T>C (p.Tyr292His) rs2510359237
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) rs763216519
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.883C>T (p.His295Tyr) rs751639773
NM_000152.5(GAA):c.889_890insG (p.Phe297fs) rs2510359261
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.897G>C (p.Leu299=) rs2510359276
NM_000152.5(GAA):c.899C>A (p.Ala300Glu) rs1032949450
NM_000152.5(GAA):c.8T>C (p.Val3Ala) rs1037603957
NM_000152.5(GAA):c.900G>C (p.Ala300=) rs759425304
NM_000152.5(GAA):c.900G>T (p.Ala300=) rs759425304
NM_000152.5(GAA):c.901C>T (p.Leu301=)
NM_000152.5(GAA):c.904G>T (p.Glu302Ter) rs2039131123
NM_000152.5(GAA):c.915G>T (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>A (p.Ser306Ter) rs138097673
NM_000152.5(GAA):c.91C>T (p.Leu31=) rs1295278849
NM_000152.5(GAA):c.921A>C (p.Ala307=) rs1800303
NM_000152.5(GAA):c.922C>G (p.His308Asp) rs112025212
NM_000152.5(GAA):c.923A>C (p.His308Pro) rs2143849751
NM_000152.5(GAA):c.924C>A (p.His308Gln) rs370105640
NM_000152.5(GAA):c.925G>T (p.Gly309Trp) rs543300039
NM_000152.5(GAA):c.928G>A (p.Val310Met) rs941586376
NM_000152.5(GAA):c.928G>T (p.Val310Leu) rs941586376
NM_000152.5(GAA):c.930G>A (p.Val310=) rs2143849884
NM_000152.5(GAA):c.930del (p.Phe311fs) rs2510359497
NM_000152.5(GAA):c.934C>T (p.Leu312=) rs771171066
NM_000152.5(GAA):c.934del (p.Leu312fs) rs886042358
NM_000152.5(GAA):c.935del (p.Leu312fs) rs2510359539
NM_000152.5(GAA):c.936G>A (p.Leu312=) rs1456154347
NM_000152.5(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.5(GAA):c.942C>T (p.Asn314=) rs2143850004
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.954G>A (p.Met318Ile) rs2143850104
NM_000152.5(GAA):c.955+10C>A rs2143850207
NM_000152.5(GAA):c.955+11C>G rs760678639
NM_000152.5(GAA):c.955+12_955+18del rs2510359691
NM_000152.5(GAA):c.955+13C>T rs753719859
NM_000152.5(GAA):c.955+14C>T rs756921041
NM_000152.5(GAA):c.955+17C>T rs2143850296
NM_000152.5(GAA):c.955+18C>T rs2143850315
NM_000152.5(GAA):c.955+19A>G rs2510359807
NM_000152.5(GAA):c.955+1G>A rs1403691329
NM_000152.5(GAA):c.955+1del rs2510359631
NM_000152.5(GAA):c.955+43G>C rs376434258
NM_000152.5(GAA):c.955+5G>A rs759508507
NM_000152.5(GAA):c.955+9C>T rs1325479883
NM_000152.5(GAA):c.955G>A (p.Asp319Asn) rs1359009455
NM_000152.5(GAA):c.955G>C (p.Asp319His)
NM_000152.5(GAA):c.956-12C>T
NM_000152.5(GAA):c.956-13G>T rs2510361630
NM_000152.5(GAA):c.956-17A>T rs2039141211
NM_000152.5(GAA):c.956-3C>T rs1421879461
NM_000152.5(GAA):c.956-4C>T rs2143852512
NM_000152.5(GAA):c.956-5_957del rs2039141441
NM_000152.5(GAA):c.956-8C>A rs369149976
NM_000152.5(GAA):c.956-8C>T rs369149976
NM_000152.5(GAA):c.956A>G (p.Asp319Gly) rs2510361773
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg) rs2510361849
NM_000152.5(GAA):c.960G>A (p.Val320=) rs2143852588
NM_000152.5(GAA):c.961G>T (p.Val321Phe) rs895612400
NM_000152.5(GAA):c.966G>A (p.Leu322=) rs1197362128
NM_000152.5(GAA):c.967C>T (p.Gln323Ter) rs2510361928
NM_000152.5(GAA):c.96C>G (p.Leu32=) rs1598569164
NM_000152.5(GAA):c.971C>G (p.Pro324Arg) rs750030887
NM_000152.5(GAA):c.971dup (p.Ser325fs) rs2143852733
NM_000152.5(GAA):c.972G>C (p.Pro324=) rs763445243
NM_000152.5(GAA):c.974G>A (p.Ser325Asn) rs905633601
NM_000152.5(GAA):c.976C>T (p.Pro326Ser) rs2039142344
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) rs1555599956
NM_000152.5(GAA):c.983T>G (p.Leu328Arg)
NM_000152.5(GAA):c.988_998del (p.Trp330fs) rs2510362015
NM_000152.5(GAA):c.98A>G (p.His33Arg) rs773479616
NM_000152.5(GAA):c.990G>C (p.Trp330Cys) rs2510362025
NM_000152.5(GAA):c.996G>T (p.Ser332=) rs779266179
NM_000152.5(GAA):c.999A>G (p.Thr333=) rs1598576668
NM_000152.5(GAA):c.[2228A>G;2237G>C]
NM_000152.5(GAA):c.[752C>T;761C>T]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.