ClinVar Miner

List of variants in gene GAA reported as likely benign for Glycogen storage disease, type II

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1080
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.*139dup rs865903736 0.10981
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.852G>A (p.Ala284=) rs142626724 0.00638
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
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.2481+16G>A rs41292408 0.00252
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 0.00170
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
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.1438-9G>A rs202211401 0.00056
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000152.5(GAA):c.859-18G>A rs377222482 0.00046
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 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.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000152.5(GAA):c.1754+11C>T rs371644603 0.00034
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196 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.1552-14C>T rs199715011 0.00024
NM_000152.5(GAA):c.2040+17G>A rs534129336 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.2323C>A (p.Leu775Met) rs147290429 0.00021
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956 0.00020
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 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.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.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000152.5(GAA):c.2274C>T (p.Ala758=) rs150431943 0.00016
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00014
NM_000152.5(GAA):c.1755-7A>G rs781539108 0.00013
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871 0.00013
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00012
NM_000152.5(GAA):c.2331+11G>C rs376709495 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.546+4G>C rs550618589 0.00011
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.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000152.5(GAA):c.2482-18G>A rs757911622 0.00010
NM_000152.5(GAA):c.610G>A (p.Ala204Thr) rs780799275 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.297C>T (p.Thr99=) rs771846178 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00009
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 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.2604G>A (p.Leu868=) rs772250523 0.00008
NM_000152.5(GAA):c.1636+8C>T rs572293131 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.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.1725C>T (p.Tyr575=) rs112517802 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.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.693-5C>T rs763538104 0.00006
NM_000152.5(GAA):c.858+15G>A rs754760986 0.00006
NM_000152.5(GAA):c.955+15G>A rs778687044 0.00006
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.1425G>A (p.Pro475=) rs753140491 0.00005
NM_000152.5(GAA):c.1437+19G>A rs746904197 0.00005
NM_000152.5(GAA):c.1488G>A (p.Leu496=) rs750777002 0.00005
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098 0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938 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.408C>T (p.Tyr136=) rs774018778 0.00005
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_000152.5(GAA):c.546+17C>T rs529918753 0.00005
NM_000152.5(GAA):c.693-13C>G rs760379754 0.00005
NM_000152.5(GAA):c.858+18G>A rs747775111 0.00005
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034 0.00004
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900 0.00004
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1491C>T (p.Ala497=) rs373993015 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.1710C>T (p.Asn570=) rs765362308 0.00004
NM_000152.5(GAA):c.1888+8C>T rs772887194 0.00004
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073 0.00004
NM_000152.5(GAA):c.246C>T (p.Cys82=) rs749584846 0.00004
NM_000152.5(GAA):c.2647-6G>T rs201525743 0.00004
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041 0.00004
NM_000152.5(GAA):c.618C>T (p.Ser206=) rs146292898 0.00004
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 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.1059G>A (p.Gln353=) rs376146090 0.00003
NM_000152.5(GAA):c.1075+12T>G rs370842677 0.00003
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys) rs189402693 0.00003
NM_000152.5(GAA):c.1437+8G>A rs779194427 0.00003
NM_000152.5(GAA):c.1636+10C>A rs778634411 0.00003
NM_000152.5(GAA):c.1754+16C>T rs369836797 0.00003
NM_000152.5(GAA):c.1803G>A (p.Ser601=) rs368993048 0.00003
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637 0.00003
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311 0.00003
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00003
NM_000152.5(GAA):c.2481+14G>A rs749667983 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.277G>A (p.Ala93Thr) rs142481170 0.00003
NM_000152.5(GAA):c.654C>T (p.Phe218=) rs762830719 0.00003
NM_000152.5(GAA):c.69C>T (p.Thr23=) rs746351336 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.955+14C>A rs756921041 0.00003
NM_000152.5(GAA):c.1053G>T (p.Val351=) rs773063199 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 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.1275G>A (p.Pro425=) rs762826072 0.00002
NM_000152.5(GAA):c.1438-11T>A rs376247021 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.1637-17G>A rs1031721446 0.00002
NM_000152.5(GAA):c.1815C>T (p.Gly605=) rs756507404 0.00002
NM_000152.5(GAA):c.1881C>T (p.Ser627=) rs779328815 0.00002
NM_000152.5(GAA):c.1929G>A (p.Gly643=) rs371096565 0.00002
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841 0.00002
NM_000152.5(GAA):c.2331+16C>T rs762495996 0.00002
NM_000152.5(GAA):c.240A>G (p.Thr80=) rs778124725 0.00002
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997 0.00002
NM_000152.5(GAA):c.2482-19C>T rs750055374 0.00002
NM_000152.5(GAA):c.2610A>G (p.Arg870=) rs375831200 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.309C>T (p.Cys103=) rs373307393 0.00002
NM_000152.5(GAA):c.546+2_546+6dup rs753159224 0.00002
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) rs2289537 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.72T>C (p.Ala24=) rs747380728 0.00002
NM_000152.5(GAA):c.924C>T (p.His308=) rs370105640 0.00002
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243 0.00002
NM_000152.5(GAA):c.1044G>A (p.Lys348=) rs1249705476 0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940 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.1068C>T (p.Asp356=) rs751215137 0.00001
NM_000152.5(GAA):c.108G>A (p.Leu36=) rs1369758261 0.00001
NM_000152.5(GAA):c.1095A>G (p.Pro365=) rs1555600060 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.1116C>T (p.His372=) rs760146859 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.1192C>T (p.Leu398=) rs369707231 0.00001
NM_000152.5(GAA):c.1195-4G>T rs886042626 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.1227C>T (p.Asp409=) rs2039157937 0.00001
NM_000152.5(GAA):c.1323C>T (p.Ile441=) rs761982159 0.00001
NM_000152.5(GAA):c.1326+8C>A rs762988038 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.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1438-10C>T rs1029231930 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.1458C>T (p.Ala486=) rs1051768479 0.00001
NM_000152.5(GAA):c.1464C>T (p.Pro488=) rs767075458 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.1539C>T (p.Asp513=) rs150990571 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+7G>A rs1340464172 0.00001
NM_000152.5(GAA):c.1636+14C>T rs758256318 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.1662G>A (p.Ala554=) rs775954786 0.00001
NM_000152.5(GAA):c.1698C>T (p.Ser566=) rs970201201 0.00001
NM_000152.5(GAA):c.1754+8C>T rs1349192080 0.00001
NM_000152.5(GAA):c.1755-11C>T rs752066426 0.00001
NM_000152.5(GAA):c.1797C>A (p.Ser599=) rs761377657 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.1857C>T (p.Ser619=) rs914396317 0.00001
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036 0.00001
NM_000152.5(GAA):c.1889-14C>T rs890806224 0.00001
NM_000152.5(GAA):c.1926C>T (p.Val642=) rs1346499760 0.00001
NM_000152.5(GAA):c.1959C>T (p.Thr653=) rs370737292 0.00001
NM_000152.5(GAA):c.1977G>A (p.Val659=) rs751873094 0.00001
NM_000152.5(GAA):c.2025C>T (p.Asn675=) rs143951130 0.00001
NM_000152.5(GAA):c.2040+16C>T rs573522544 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.2041-17C>T rs746028622 0.00001
NM_000152.5(GAA):c.2041-7C>T rs1212995227 0.00001
NM_000152.5(GAA):c.2070G>A (p.Pro690=) rs757802524 0.00001
NM_000152.5(GAA):c.2097C>T (p.Leu699=) rs1381174968 0.00001
NM_000152.5(GAA):c.2118C>T (p.Leu706=) rs1479318289 0.00001
NM_000152.5(GAA):c.2142C>T (p.His714=) rs779462990 0.00001
NM_000152.5(GAA):c.2166C>T (p.Thr722=) rs759452172 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.231A>G (p.Ala77=) rs748580998 0.00001
NM_000152.5(GAA):c.234G>T (p.Val78=) rs2039033854 0.00001
NM_000152.5(GAA):c.2392A>G (p.Ile798Val) rs752459996 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.2463G>T (p.Gly821=) rs923989221 0.00001
NM_000152.5(GAA):c.2476C>T (p.Leu826=) rs2039389671 0.00001
NM_000152.5(GAA):c.2481+12A>G rs773652476 0.00001
NM_000152.5(GAA):c.2544C>T (p.Thr848=) rs776487269 0.00001
NM_000152.5(GAA):c.2550T>C (p.Gly850=) rs761608706 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+8C>A rs773123506 0.00001
NM_000152.5(GAA):c.264C>T (p.Ser88=) rs1470933192 0.00001
NM_000152.5(GAA):c.2655C>T (p.Ile885=) rs774840779 0.00001
NM_000152.5(GAA):c.2700G>A (p.Gln900=) rs1490464728 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.276C>T (p.Cys92=) rs1232001857 0.00001
NM_000152.5(GAA):c.2820G>A (p.Ser940=) rs992579033 0.00001
NM_000152.5(GAA):c.2844C>T (p.Leu948=) rs774656713 0.00001
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806 0.00001
NM_000152.5(GAA):c.372G>A (p.Gln124=) rs899924363 0.00001
NM_000152.5(GAA):c.384C>T (p.Phe128=) rs1021707839 0.00001
NM_000152.5(GAA):c.421C>T (p.Leu141=) rs1379595858 0.00001
NM_000152.5(GAA):c.42C>G (p.Ala14=) rs141377453 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.459C>G (p.Thr153=) rs751672437 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.48C>T (p.Cys16=) rs202168804 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.547-41G>C rs753870549 0.00001
NM_000152.5(GAA):c.594G>A (p.Pro198=) rs1426823689 0.00001
NM_000152.5(GAA):c.603C>T (p.His201=) rs1442775924 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.630C>T (p.Ser210=) rs775568949 0.00001
NM_000152.5(GAA):c.681C>T (p.Asp227=) rs780515378 0.00001
NM_000152.5(GAA):c.692+9T>C rs367661167 0.00001
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511 0.00001
NM_000152.5(GAA):c.715C>T (p.Leu239=) rs778882374 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.798C>G (p.Pro266=) rs1598575210 0.00001
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424 0.00001
NM_000152.5(GAA):c.843G>A (p.Arg281=) rs1221565410 0.00001
NM_000152.5(GAA):c.858+14C>T rs746986703 0.00001
NM_000152.5(GAA):c.859-19C>T rs1331623680 0.00001
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519 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.918G>A (p.Ser306=) rs373276219 0.00001
NM_000152.5(GAA):c.936G>T (p.Leu312=) rs1456154347 0.00001
NM_000152.5(GAA):c.993G>A (p.Arg331=) rs749831587 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
NM_000152.5(GAA):c.1005G>A (p.Gly335=) rs1598576696
NM_000152.5(GAA):c.1005G>C (p.Gly335=)
NM_000152.5(GAA):c.1008C>A (p.Ile336=) rs994615279
NM_000152.5(GAA):c.1008C>T (p.Ile336=)
NM_000152.5(GAA):c.1009C>T (p.Leu337=) rs1387814304
NM_000152.5(GAA):c.1011G>T (p.Leu337=)
NM_000152.5(GAA):c.1017C>T (p.Val339=) rs1242745765
NM_000152.5(GAA):c.1020C>T (p.Tyr340=) rs1358917187
NM_000152.5(GAA):c.1023C>A (p.Ile341=)
NM_000152.5(GAA):c.1026C>T (p.Phe342=) rs910930578
NM_000152.5(GAA):c.1035A>C (p.Pro345=) rs942325926
NM_000152.5(GAA):c.1041C>T (p.Pro347=) rs1489442441
NM_000152.5(GAA):c.105C>T (p.Phe35=)
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.1071T>C (p.Val357=) rs1598576937
NM_000152.5(GAA):c.1075+10G>A
NM_000152.5(GAA):c.1075+14C>G
NM_000152.5(GAA):c.1075+14C>T rs376547092
NM_000152.5(GAA):c.1075+15C>T
NM_000152.5(GAA):c.1075+16T>C
NM_000152.5(GAA):c.1075+18G>A
NM_000152.5(GAA):c.1075+7C>T
NM_000152.5(GAA):c.1075+8del
NM_000152.5(GAA):c.1076-12G>A
NM_000152.5(GAA):c.1076-12del rs2039148326
NM_000152.5(GAA):c.1076-13C>T
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
NM_000152.5(GAA):c.1076-4G>T rs2039148417
NM_000152.5(GAA):c.1076-7C>T
NM_000152.5(GAA):c.1076-8G>A
NM_000152.5(GAA):c.1080C>T (p.Tyr360=) rs2143854519
NM_000152.5(GAA):c.1086C>T (p.Phe362=) rs2143854600
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.1092G>A (p.Pro364=) rs777730774
NM_000152.5(GAA):c.1092G>C (p.Pro364=)
NM_000152.5(GAA):c.1095A>C (p.Pro365=) rs1555600060
NM_000152.5(GAA):c.1098C>T (p.Tyr366=) rs2143854770
NM_000152.5(GAA):c.1105C>T (p.Leu369=) rs2143854883
NM_000152.5(GAA):c.1107G>A (p.Leu369=)
NM_000152.5(GAA):c.1107G>C (p.Leu369=)
NM_000152.5(GAA):c.1110C>T (p.Gly370=) rs775172804
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.1134C>T (p.Tyr378=) rs1567830317
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.1140C>T (p.Ser380=) rs1214685237
NM_000152.5(GAA):c.1149C>T (p.Ile383=)
NM_000152.5(GAA):c.1155C>G (p.Arg385=)
NM_000152.5(GAA):c.1155C>T (p.Arg385=) rs2143855573
NM_000152.5(GAA):c.1164G>A (p.Val388=) rs2143855798
NM_000152.5(GAA):c.1176C>T (p.Thr392=) rs2143855934
NM_000152.5(GAA):c.117C>T (p.Pro39=)
NM_000152.5(GAA):c.1182C>T (p.Ala394=) rs771894765
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.1191C>G (p.Pro397=)
NM_000152.5(GAA):c.1194+10G>A rs2143856297
NM_000152.5(GAA):c.1194+10G>T
NM_000152.5(GAA):c.1194+11G>T
NM_000152.5(GAA):c.1194+13G>A
NM_000152.5(GAA):c.1194+15T>A
NM_000152.5(GAA):c.1194+15T>C
NM_000152.5(GAA):c.1194+19dup
NM_000152.5(GAA):c.1194+20G>C
NM_000152.5(GAA):c.1194+8G>T rs2143856250
NM_000152.5(GAA):c.1194+9G>A
NM_000152.5(GAA):c.1194+9G>T
NM_000152.5(GAA):c.1195-15G>C rs373840229
NM_000152.5(GAA):c.1195-16C>T
NM_000152.5(GAA):c.1195-17C>G
NM_000152.5(GAA):c.1195-18C>A
NM_000152.5(GAA):c.1195-19T>C
NM_000152.5(GAA):c.1195-4G>A
NM_000152.5(GAA):c.1195-5T>C rs2143856963
NM_000152.5(GAA):c.1195-7del
NM_000152.5(GAA):c.1195-9T>C rs2143856933
NM_000152.5(GAA):c.1200C>T (p.Val400=)
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.1215G>A (p.Leu405=)
NM_000152.5(GAA):c.1218C>T (p.Asp406=) rs2039157400
NM_000152.5(GAA):c.1230C>A (p.Ser410=) rs746340075
NM_000152.5(GAA):c.1234A>C (p.Arg412=)
NM_000152.5(GAA):c.1236G>A (p.Arg412=)
NM_000152.5(GAA):c.1239C>T (p.Asp413=) rs2039158556
NM_000152.5(GAA):c.1260C>A (p.Gly420=)
NM_000152.5(GAA):c.1260C>G (p.Gly420=)
NM_000152.5(GAA):c.126G>C (p.Leu42=) rs2143825047
NM_000152.5(GAA):c.1278C>T (p.Ala426=)
NM_000152.5(GAA):c.1284G>T (p.Val428=) rs2143857912
NM_000152.5(GAA):c.1293G>T (p.Leu431=) rs1172862164
NM_000152.5(GAA):c.1296C>T (p.His432=) rs2143858058
NM_000152.5(GAA):c.1306C>A (p.Arg436=)
NM_000152.5(GAA):c.1311C>T (p.Arg437=) rs1234415461
NM_000152.5(GAA):c.1314C>T (p.Tyr438=)
NM_000152.5(GAA):c.1323C>A (p.Ile441=)
NM_000152.5(GAA):c.1326+12C>G
NM_000152.5(GAA):c.1326+15A>G rs2143858786
NM_000152.5(GAA):c.1326+16C>G
NM_000152.5(GAA):c.1326+16C>T
NM_000152.5(GAA):c.1326+20G>T rs774138443
NM_000152.5(GAA):c.1326+7G>A
NM_000152.5(GAA):c.1326+8C>G
NM_000152.5(GAA):c.1326+8C>T rs762988038
NM_000152.5(GAA):c.1327-10C>T
NM_000152.5(GAA):c.1327-12C>T
NM_000152.5(GAA):c.1327-16G>A
NM_000152.5(GAA):c.1327-16G>T rs1378637239
NM_000152.5(GAA):c.1327-18A>C
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
NM_000152.5(GAA):c.1327-5C>A rs1314883749
NM_000152.5(GAA):c.1327-5C>T
NM_000152.5(GAA):c.1327-8C>T rs1598579967
NM_000152.5(GAA):c.1327-9T>C
NM_000152.5(GAA):c.132C>T (p.Gly44=) rs2143825106
NM_000152.5(GAA):c.1341C>T (p.Ser447=)
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808
NM_000152.5(GAA):c.1347G>C (p.Ser449=) rs756938942
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=)
NM_000152.5(GAA):c.1377C>T (p.Asp459=) rs778121058
NM_000152.5(GAA):c.1386G>T (p.Leu462=)
NM_000152.5(GAA):c.138C>G (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1390A>C (p.Arg464=)
NM_000152.5(GAA):c.1392G>A (p.Arg464=) rs372786811
NM_000152.5(GAA):c.1395G>A (p.Gly465=) rs2143866655
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.1422G>A (p.Gln474=)
NM_000152.5(GAA):c.1426C>T (p.Leu476=)
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1437+15C>T rs2143867420
NM_000152.5(GAA):c.1437+16A>G
NM_000152.5(GAA):c.1437+16_1437+22dup
NM_000152.5(GAA):c.1437+18G>C
NM_000152.5(GAA):c.1437+20G>A rs768737799
NM_000152.5(GAA):c.1437+20G>C
NM_000152.5(GAA):c.1437+20G>T
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.1438-12C>G
NM_000152.5(GAA):c.1438-12C>T
NM_000152.5(GAA):c.1438-13T>C rs1598581379
NM_000152.5(GAA):c.1438-14C>T
NM_000152.5(GAA):c.1438-15_1438-1del rs1567832762
NM_000152.5(GAA):c.1438-19G>A
NM_000152.5(GAA):c.1438-6G>C rs1252384762
NM_000152.5(GAA):c.1438-7T>C rs1484346995
NM_000152.5(GAA):c.1438-9G>C
NM_000152.5(GAA):c.1438-9G>T rs202211401
NM_000152.5(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.5(GAA):c.144C>T (p.Val48=) rs1055575232
NM_000152.5(GAA):c.1455T>C (p.Thr485=) rs774037839
NM_000152.5(GAA):c.1461C>T (p.Phe487=)
NM_000152.5(GAA):c.147G>A (p.Leu49=) rs915625623
NM_000152.5(GAA):c.1486C>T (p.Leu496=) rs1598581572
NM_000152.5(GAA):c.1509G>A (p.Val503=) rs2143872732
NM_000152.5(GAA):c.1518C>T (p.Phe506=) rs1464913441
NM_000152.5(GAA):c.1527G>A (p.Gln509=)
NM_000152.5(GAA):c.1533C>G (p.Pro511=) rs1598581655
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1551+10G>A
NM_000152.5(GAA):c.1551+10dup rs2143873218
NM_000152.5(GAA):c.1551+11C>T
NM_000152.5(GAA):c.1551+15C>G
NM_000152.5(GAA):c.1551+20G>A
NM_000152.5(GAA):c.1551+7G>T rs1340464172
NM_000152.5(GAA):c.1552-10del
NM_000152.5(GAA):c.1552-12C>A rs2143873890
NM_000152.5(GAA):c.1552-16A>G
NM_000152.5(GAA):c.1552-20C>T
NM_000152.5(GAA):c.1552-7C>G
NM_000152.5(GAA):c.1552-7C>T rs2039221235
NM_000152.5(GAA):c.1552-8T>C rs2039221161
NM_000152.5(GAA):c.156T>A (p.Thr52=) rs2143825403
NM_000152.5(GAA):c.1572C>T (p.Asn524=) rs1417304813
NM_000152.5(GAA):c.159C>T (p.His53=) rs2143825464
NM_000152.5(GAA):c.1602C>A (p.Pro534=) rs1241189076
NM_000152.5(GAA):c.1612C>T (p.Leu538=)
NM_000152.5(GAA):c.1632G>C (p.Val544=)
NM_000152.5(GAA):c.1632G>T (p.Val544=)
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
NM_000152.5(GAA):c.1636+12C>G
NM_000152.5(GAA):c.1636+12C>T
NM_000152.5(GAA):c.1636+15C>G
NM_000152.5(GAA):c.1636+15C>T
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
NM_000152.5(GAA):c.1636+19T>A
NM_000152.5(GAA):c.1636+7del
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1637-10C>T rs2143881993
NM_000152.5(GAA):c.1637-11G>C
NM_000152.5(GAA):c.1637-19C>T
NM_000152.5(GAA):c.1637-9C>T rs1598583515
NM_000152.5(GAA):c.1638G>A (p.Gly546=) rs1260256483
NM_000152.5(GAA):c.1650G>A (p.Gly550=) rs747638133
NM_000152.5(GAA):c.1656C>A (p.Leu552=) rs2039246860
NM_000152.5(GAA):c.1668C>T (p.Thr556=) rs1415372735
NM_000152.5(GAA):c.1671C>A (p.Ile557=)
NM_000152.5(GAA):c.1674T>C (p.Cys558=) rs2143882693
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=)
NM_000152.5(GAA):c.1692T>C (p.Phe564=) rs886043997
NM_000152.5(GAA):c.1695C>G (p.Leu565=) rs2143882915
NM_000152.5(GAA):c.1704C>T (p.His568=) rs776882059
NM_000152.5(GAA):c.1711C>T (p.Leu571=) rs1405669960
NM_000152.5(GAA):c.1716C>T (p.His572=) rs772962666
NM_000152.5(GAA):c.1719C>T (p.Asn573=) rs1175728529
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1728C>G (p.Gly576=) rs2143883499
NM_000152.5(GAA):c.1728C>T (p.Gly576=)
NM_000152.5(GAA):c.1731G>A (p.Leu577=)
NM_000152.5(GAA):c.1731G>T (p.Leu577=)
NM_000152.5(GAA):c.1734C>T (p.Thr578=) rs149384771
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1746C>T (p.Ala582=)
NM_000152.5(GAA):c.1752C>T (p.His584=)
NM_000152.5(GAA):c.1754+12G>T
NM_000152.5(GAA):c.1754+15C>T
NM_000152.5(GAA):c.1754+18C>T
NM_000152.5(GAA):c.1754+9C>G rs1319204794
NM_000152.5(GAA):c.1755-12C>A
NM_000152.5(GAA):c.1755-16del
NM_000152.5(GAA):c.1755-17G>A
NM_000152.5(GAA):c.1755-19G>A
NM_000152.5(GAA):c.1755-20G>A
NM_000152.5(GAA):c.1755-5C>T
NM_000152.5(GAA):c.1755-8C>G
NM_000152.5(GAA):c.1755-9C>T
NM_000152.5(GAA):c.1758G>T (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1764G>A (p.Val588=) rs2143887715
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.1782C>A (p.Arg594=)
NM_000152.5(GAA):c.1782C>T (p.Arg594=)
NM_000152.5(GAA):c.1791G>C (p.Val597=) rs2039262436
NM_000152.5(GAA):c.1797C>T (p.Ser599=) rs761377657
NM_000152.5(GAA):c.1800C>T (p.Arg600=) rs1598584611
NM_000152.5(GAA):c.1803G>T (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1806C>A (p.Thr602=) rs1598584645
NM_000152.5(GAA):c.180C>G (p.Ala60=) rs2039031609
NM_000152.5(GAA):c.1830C>A (p.Ala610=)
NM_000152.5(GAA):c.1833C>T (p.Gly611=)
NM_000152.5(GAA):c.1842G>C (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1845G>A (p.Gly615=)
NM_000152.5(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.5(GAA):c.1878C>T (p.Ser626=) rs2143889719
NM_000152.5(GAA):c.1888+10T>C
NM_000152.5(GAA):c.1888+12C>A
NM_000152.5(GAA):c.1888+15G>A
NM_000152.5(GAA):c.1888+18G>A rs1452309871
NM_000152.5(GAA):c.1888+18G>C
NM_000152.5(GAA):c.1888+20G>C
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.1889-12_1889-11del rs777483558
NM_000152.5(GAA):c.1889-13T>C
NM_000152.5(GAA):c.1889-15A>T
NM_000152.5(GAA):c.1889-18C>G
NM_000152.5(GAA):c.1889-20G>A
NM_000152.5(GAA):c.1889-4C>T
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1889-7C>T
NM_000152.5(GAA):c.1893C>T (p.Ile631=) rs1598585395
NM_000152.5(GAA):c.1896G>T (p.Leu632=)
NM_000152.5(GAA):c.189A>C (p.Pro63=)
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1902T>C (p.Phe634=)
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=)
NM_000152.5(GAA):c.1911G>A (p.Leu637=)
NM_000152.5(GAA):c.1914G>A (p.Gly638=) rs1305357140
NM_000152.5(GAA):c.1926C>G (p.Val642=) rs1346499760
NM_000152.5(GAA):c.1935C>T (p.Asp645=) rs28940868
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1947C>T (p.Phe649=) rs770248553
NM_000152.5(GAA):c.1948C>T (p.Leu650=)
NM_000152.5(GAA):c.1950G>C (p.Leu650=)
NM_000152.5(GAA):c.1953C>T (p.Gly651=)
NM_000152.5(GAA):c.1956C>T (p.Asn652=)
NM_000152.5(GAA):c.1962A>G (p.Ser654=) rs2143892394
NM_000152.5(GAA):c.1971G>A (p.Leu657=)
NM_000152.5(GAA):c.1986C>T (p.Thr662=) rs2039278843
NM_000152.5(GAA):c.1989G>A (p.Gln663=) rs1189531783
NM_000152.5(GAA):c.198G>A (p.Arg66=) rs2143825886
NM_000152.5(GAA):c.2001C>T (p.Phe667=)
NM_000152.5(GAA):c.2004C>T (p.Tyr668=)
NM_000152.5(GAA):c.2007C>T (p.Pro669=)
NM_000152.5(GAA):c.2016G>A (p.Arg672=)
NM_000152.5(GAA):c.2019C>T (p.Asn673=)
NM_000152.5(GAA):c.2022C>T (p.His674=)
NM_000152.5(GAA):c.2028C>T (p.Ser676=) rs1209690340
NM_000152.5(GAA):c.2029C>T (p.Leu677=) rs1272817506
NM_000152.5(GAA):c.2040+11_2040+18dup rs745338070
NM_000152.5(GAA):c.2040+13T>C
NM_000152.5(GAA):c.2040+14G>A
NM_000152.5(GAA):c.2040+15G>A
NM_000152.5(GAA):c.2040+18G>A
NM_000152.5(GAA):c.2040+18G>T
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
NM_000152.5(GAA):c.2040+9G>C
NM_000152.5(GAA):c.2041-15C>G
NM_000152.5(GAA):c.2041-17C>A rs746028622
NM_000152.5(GAA):c.2041-20T>C
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
NM_000152.5(GAA):c.2043C>A (p.Pro681=) rs764174168
NM_000152.5(GAA):c.2043C>G (p.Pro681=)
NM_000152.5(GAA):c.2043C>T (p.Pro681=) rs764174168
NM_000152.5(GAA):c.2049G>A (p.Glu683=)
NM_000152.5(GAA):c.204C>T (p.Ala68=) rs2143825931
NM_000152.5(GAA):c.2052G>T (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) rs750214208
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2070G>C (p.Pro690=)
NM_000152.5(GAA):c.207G>A (p.Gln69=) rs2039032628
NM_000152.5(GAA):c.2082C>T (p.Ala694=)
NM_000152.5(GAA):c.2088G>A (p.Arg696=) rs2143895840
NM_000152.5(GAA):c.2091G>A (p.Lys697=) rs2143895855
NM_000152.5(GAA):c.2100C>A (p.Thr700=)
NM_000152.5(GAA):c.2100C>T (p.Thr700=) rs199571088
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=)
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.2121C>T (p.Pro707=)
NM_000152.5(GAA):c.2124C>T (p.His708=) rs751187069
NM_000152.5(GAA):c.2134C>T (p.Leu712=) rs752233229
NM_000152.5(GAA):c.213C>T (p.His71=)
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.2154C>G (p.Val718=) rs1800311
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2157G>C (p.Ala719=)
NM_000152.5(GAA):c.2157G>T (p.Ala719=)
NM_000152.5(GAA):c.2163G>A (p.Glu721=) rs2143896953
NM_000152.5(GAA):c.2166C>G (p.Thr722=)
NM_000152.5(GAA):c.2169G>A (p.Val723=)
NM_000152.5(GAA):c.2172C>T (p.Ala724=) rs2039292373
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=)
NM_000152.5(GAA):c.2178C>T (p.Pro726=) rs1226457670
NM_000152.5(GAA):c.2185C>T (p.Leu729=)
NM_000152.5(GAA):c.2189+10_2189+11del
NM_000152.5(GAA):c.2189+16del
NM_000152.5(GAA):c.2189+9C>G rs2039293292
NM_000152.5(GAA):c.2189+9C>T rs2039293292
NM_000152.5(GAA):c.2190-16C>T
NM_000152.5(GAA):c.2190-20T>C rs1485579975
NM_000152.5(GAA):c.2190-20T>G
NM_000152.5(GAA):c.2190-7C>G
NM_000152.5(GAA):c.2190-9C>A
NM_000152.5(GAA):c.2193C>T (p.Phe731=)
NM_000152.5(GAA):c.2196C>A (p.Pro732=) rs915890435
NM_000152.5(GAA):c.21C>T (p.Pro7=) rs2143823837
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.2211C>G (p.Thr737=) rs2143918476
NM_000152.5(GAA):c.2211C>T (p.Thr737=) rs2143918476
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2220G>A (p.Val740=)
NM_000152.5(GAA):c.2223C>T (p.Asp741=) rs767773929
NM_000152.5(GAA):c.2226C>T (p.His742=)
NM_000152.5(GAA):c.2229G>A (p.Gln743=) rs2143918741
NM_000152.5(GAA):c.2232C>T (p.Leu744=)
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=)
NM_000152.5(GAA):c.2244G>A (p.Glu748=)
NM_000152.5(GAA):c.2247C>A (p.Ala749=)
NM_000152.5(GAA):c.2248C>T (p.Leu750=) rs2143919200
NM_000152.5(GAA):c.2268C>T (p.Leu756=) rs746873847
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.2304C>G (p.Pro768=)
NM_000152.5(GAA):c.2307G>A (p.Leu769=) rs372800172
NM_000152.5(GAA):c.2325G>A (p.Leu775=) rs2143920372
NM_000152.5(GAA):c.2331+12G>A
NM_000152.5(GAA):c.2331+12G>C
NM_000152.5(GAA):c.2331+12G>T
NM_000152.5(GAA):c.2331+14C>T rs772727792
NM_000152.5(GAA):c.2331+17del
NM_000152.5(GAA):c.2331+19dup
NM_000152.5(GAA):c.2331+20G>T
NM_000152.5(GAA):c.2331+7C>G
NM_000152.5(GAA):c.2332-12A>G
NM_000152.5(GAA):c.2332-16C>T rs2039383167
NM_000152.5(GAA):c.2332-5T>G rs1276069832
NM_000152.5(GAA):c.2332-7C>A
NM_000152.5(GAA):c.2332-7C>T
NM_000152.5(GAA):c.2332-8C>T rs2143924023
NM_000152.5(GAA):c.2332-9T>C
NM_000152.5(GAA):c.2337A>G (p.Pro779=) rs1042838087
NM_000152.5(GAA):c.2349T>C (p.Leu783=)
NM_000152.5(GAA):c.2355C>T (p.Ser785=) rs2143924314
NM_000152.5(GAA):c.2358C>A (p.Leu786=)
NM_000152.5(GAA):c.2361A>G (p.Pro787=)
NM_000152.5(GAA):c.2364C>T (p.Pro788=)
NM_000152.5(GAA):c.2367A>G (p.Pro789=) rs1012503581
NM_000152.5(GAA):c.2370T>C (p.Pro790=)
NM_000152.5(GAA):c.237C>T (p.Pro79=)
NM_000152.5(GAA):c.2385G>A (p.Glu795=) rs1333952509
NM_000152.5(GAA):c.2388A>G (p.Pro796=)
NM_000152.5(GAA):c.2391C>G (p.Ala797=)
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2403G>A (p.Glu801=) rs2143924963
NM_000152.5(GAA):c.2409G>A (p.Gln803=) rs778506693
NM_000152.5(GAA):c.2415G>T (p.Val805=) rs150536507
NM_000152.5(GAA):c.2418G>T (p.Thr806=) rs371528938
NM_000152.5(GAA):c.2427C>T (p.Ala809=) rs766325117
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.2439C>A (p.Thr813=)
NM_000152.5(GAA):c.2439C>T (p.Thr813=) rs2143925559
NM_000152.5(GAA):c.2442C>T (p.Ile814=)
NM_000152.5(GAA):c.2451C>T (p.His817=) rs753382861
NM_000152.5(GAA):c.2466C>T (p.Tyr822=) rs2039389205
NM_000152.5(GAA):c.2469C>T (p.Ile823=)
NM_000152.5(GAA):c.2472C>A (p.Ile824=)
NM_000152.5(GAA):c.2472C>T (p.Ile824=) rs2039389492
NM_000152.5(GAA):c.2475C>T (p.Pro825=)
NM_000152.5(GAA):c.2481+10C>A
NM_000152.5(GAA):c.2481+20A>G
NM_000152.5(GAA):c.2481+7G>A rs770240317
NM_000152.5(GAA):c.2481+8G>T
NM_000152.5(GAA):c.2482-12T>C
NM_000152.5(GAA):c.2482-16G>A
NM_000152.5(GAA):c.2482-17T>C
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
NM_000152.5(GAA):c.2482-9C>T rs753210535
NM_000152.5(GAA):c.2496A>C (p.Thr832=)
NM_000152.5(GAA):c.2496A>G (p.Thr832=) rs2143929451
NM_000152.5(GAA):c.24C>T (p.Cys8=)
NM_000152.5(GAA):c.2511C>T (p.Arg837=)
NM_000152.5(GAA):c.2517G>A (p.Gln839=)
NM_000152.5(GAA):c.2520C>T (p.Pro840=) rs1054395487
NM_000152.5(GAA):c.2526C>G (p.Ala842=) rs886038259
NM_000152.5(GAA):c.2529G>A (p.Leu843=) rs2039403061
NM_000152.5(GAA):c.2529G>C (p.Leu843=)
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=)
NM_000152.5(GAA):c.2544C>G (p.Thr848=)
NM_000152.5(GAA):c.2547G>A (p.Lys849=)
NM_000152.5(GAA):c.2550T>G (p.Gly850=) rs761608706
NM_000152.5(GAA):c.2553G>C (p.Gly851=) rs1042397
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.2571G>A (p.Leu857=)
NM_000152.5(GAA):c.2583T>C (p.Asp861=)
NM_000152.5(GAA):c.258C>G (p.Pro86=)
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.2598A>G (p.Glu866=)
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.2616C>T (p.Ala872=)
NM_000152.5(GAA):c.2625G>A (p.Gln875=) rs2039406110
NM_000152.5(GAA):c.2643G>A (p.Arg881=) rs1160268139
NM_000152.5(GAA):c.2646+12G>A
NM_000152.5(GAA):c.2646+19C>T
NM_000152.5(GAA):c.2646+7C>G rs2143931099
NM_000152.5(GAA):c.2646+7C>T
NM_000152.5(GAA):c.2646+8C>T
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.2647-12T>C
NM_000152.5(GAA):c.2647-12dup
NM_000152.5(GAA):c.2647-14T>A
NM_000152.5(GAA):c.2647-15C>G rs1567840763
NM_000152.5(GAA):c.2647-17C>G
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2647-25_2647-18del
NM_000152.5(GAA):c.2647-4C>T
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
NM_000152.5(GAA):c.2647-7G>T
NM_000152.5(GAA):c.2647-8C>G rs139201641
NM_000152.5(GAA):c.2652G>C (p.Thr884=)
NM_000152.5(GAA):c.2652G>T (p.Thr884=)
NM_000152.5(GAA):c.2655C>A (p.Ile885=) rs774840779
NM_000152.5(GAA):c.2658G>T (p.Val886=)
NM_000152.5(GAA):c.2665C>T (p.Leu889=) rs750939444
NM_000152.5(GAA):c.2676G>A (p.Val892=)
NM_000152.5(GAA):c.267C>T (p.Arg89=) rs2039036067
NM_000152.5(GAA):c.2695C>T (p.Leu899=)
NM_000152.5(GAA):c.2697G>T (p.Leu899=) rs2143933626
NM_000152.5(GAA):c.2703G>A (p.Leu901=) rs2143933710
NM_000152.5(GAA):c.2706G>A (p.Gln902=) rs2039415234
NM_000152.5(GAA):c.2718C>T (p.Val906=)
NM_000152.5(GAA):c.2721G>A (p.Leu907=) rs2143933909
NM_000152.5(GAA):c.2730C>A (p.Ala910=) rs2143934007
NM_000152.5(GAA):c.2733G>A (p.Thr911=)
NM_000152.5(GAA):c.2736G>T (p.Ala912=)
NM_000152.5(GAA):c.2739C>T (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2751C>G (p.Leu917=)
NM_000152.5(GAA):c.2754C>A (p.Ser918=) rs1598594382
NM_000152.5(GAA):c.2760T>C (p.Gly920=)
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.2772C>G (p.Ser924=)
NM_000152.5(GAA):c.2772C>T (p.Ser924=) rs2039417635
NM_000152.5(GAA):c.2778C>T (p.Phe926=)
NM_000152.5(GAA):c.2784C>T (p.Tyr928=)
NM_000152.5(GAA):c.2790C>T (p.Pro930=) rs2039418269
NM_000152.5(GAA):c.2793C>T (p.Asp931=) rs1439341909
NM_000152.5(GAA):c.2796C>T (p.Thr932=) rs2143934830
NM_000152.5(GAA):c.2799+10C>G rs1482012226
NM_000152.5(GAA):c.2799+10C>T rs1482012226
NM_000152.5(GAA):c.2799+12C>T
NM_000152.5(GAA):c.2799+13A>C
NM_000152.5(GAA):c.2799+15A>C
NM_000152.5(GAA):c.2799+15A>G
NM_000152.5(GAA):c.2799+16G>A
NM_000152.5(GAA):c.2799+17T>C
NM_000152.5(GAA):c.2799+18G>A rs779034370
NM_000152.5(GAA):c.2799+18G>T
NM_000152.5(GAA):c.2800-10T>C rs2143938123
NM_000152.5(GAA):c.2800-11C>T
NM_000152.5(GAA):c.2800-13del
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.2800-16G>A
NM_000152.5(GAA):c.2800-20T>A
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
NM_000152.5(GAA):c.2817C>T (p.Val939=) rs2143938445
NM_000152.5(GAA):c.2820G>C (p.Ser940=)
NM_000152.5(GAA):c.2821C>T (p.Leu941=)
NM_000152.5(GAA):c.2823G>A (p.Leu941=)
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.282T>C (p.Pro94=)
NM_000152.5(GAA):c.2850C>T (p.Ser950=)
NM_000152.5(GAA):c.2859G>A (p.Ter953=)
NM_000152.5(GAA):c.297C>G (p.Thr99=) rs771846178
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.30C>T (p.His10=)
NM_000152.5(GAA):c.318C>A (p.Arg106=)
NM_000152.5(GAA):c.330C>T (p.Tyr110=)
NM_000152.5(GAA):c.333C>T (p.Ile111=)
NM_000152.5(GAA):c.348G>T (p.Gly116=) rs2143827789
NM_000152.5(GAA):c.354G>A (p.Gln118=)
NM_000152.5(GAA):c.357A>C (p.Gly119=)
NM_000152.5(GAA):c.381C>T (p.Cys127=)
NM_000152.5(GAA):c.393C>G (p.Pro131=) rs769276948
NM_000152.5(GAA):c.399C>T (p.Tyr133=)
NM_000152.5(GAA):c.411G>A (p.Lys137=)
NM_000152.5(GAA):c.414G>A (p.Leu138=)
NM_000152.5(GAA):c.423G>A (p.Leu141=)
NM_000152.5(GAA):c.423G>T (p.Leu141=) rs2143828533
NM_000152.5(GAA):c.42C>T (p.Ala14=) rs141377453
NM_000152.5(GAA):c.456G>C (p.Leu152=) rs1477781307
NM_000152.5(GAA):c.468C>G (p.Thr156=) rs145849611
NM_000152.5(GAA):c.480C>T (p.Phe160=)
NM_000152.5(GAA):c.498C>T (p.Thr166=)
NM_000152.5(GAA):c.499C>T (p.Leu167=)
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=)
NM_000152.5(GAA):c.504G>T (p.Arg168=)
NM_000152.5(GAA):c.513G>C (p.Val171=)
NM_000152.5(GAA):c.522G>A (p.Glu174=)
NM_000152.5(GAA):c.525T>C (p.Thr175=) rs2039047153
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.543C>T (p.Phe181=) rs1567826499
NM_000152.5(GAA):c.546+10G>A
NM_000152.5(GAA):c.546+12_546+17del rs1567826548
NM_000152.5(GAA):c.546+12_546+17dup
NM_000152.5(GAA):c.546+13GGGGCG[3]
NM_000152.5(GAA):c.546+16G>A
NM_000152.5(GAA):c.546+16G>C rs1043184942
NM_000152.5(GAA):c.546+16G>T
NM_000152.5(GAA):c.546+20G>A
NM_000152.5(GAA):c.546+20_546+25del
NM_000152.5(GAA):c.546+3GGGCA[3]
NM_000152.5(GAA):c.546+7A>G rs1329049814
NM_000152.5(GAA):c.546+7_546+12del
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000152.5(GAA):c.546+9G>A rs2143829950
NM_000152.5(GAA):c.547-15C>T
NM_000152.5(GAA):c.547-16C>G
NM_000152.5(GAA):c.547-4C>A rs3816256
NM_000152.5(GAA):c.547-9C>T rs746507322
NM_000152.5(GAA):c.54C>G (p.Leu18=) rs886053542
NM_000152.5(GAA):c.552A>G (p.Lys184=)
NM_000152.5(GAA):c.561T>A (p.Ala187=)
NM_000152.5(GAA):c.564C>T (p.Asn188=) rs2039068461
NM_000152.5(GAA):c.567G>A (p.Arg189=)
NM_000152.5(GAA):c.573C>T (p.Tyr191=) 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.594G>C (p.Pro198=) rs1426823689
NM_000152.5(GAA):c.594G>T (p.Pro198=) rs1426823689
NM_000152.5(GAA):c.609G>T (p.Arg203=)
NM_000152.5(GAA):c.612A>G (p.Ala204=)
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.621A>C (p.Pro207=)
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.633G>A (p.Val211=) rs2143834416
NM_000152.5(GAA):c.639C>T (p.Phe213=) rs2143834450
NM_000152.5(GAA):c.642C>A (p.Ser214=) rs1800301
NM_000152.5(GAA):c.651C>A (p.Pro217=) rs2039072589
NM_000152.5(GAA):c.657G>A (p.Gly219=) rs2039072905
NM_000152.5(GAA):c.663C>A (p.Ile221=) rs142878958
NM_000152.5(GAA):c.666G>A (p.Val222=)
NM_000152.5(GAA):c.678G>T (p.Leu226=)
NM_000152.5(GAA):c.684C>T (p.Gly228=)
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.692+11G>C
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
NM_000152.5(GAA):c.692+20C>T
NM_000152.5(GAA):c.692+8C>G
NM_000152.5(GAA):c.693-10T>C rs2143845612
NM_000152.5(GAA):c.693-11C>G
NM_000152.5(GAA):c.693-13C>T rs760379754
NM_000152.5(GAA):c.693-14C>T
NM_000152.5(GAA):c.693-15G>A
NM_000152.5(GAA):c.693-19G>C rs1271276827
NM_000152.5(GAA):c.693-19G>T
NM_000152.5(GAA):c.693-20G>A
NM_000152.5(GAA):c.693-4G>A rs200088236
NM_000152.5(GAA):c.693-5del rs1555599563
NM_000152.5(GAA):c.693-6C>G
NM_000152.5(GAA):c.693-6C>T rs2143845646
NM_000152.5(GAA):c.693-7C>T
NM_000152.5(GAA):c.693-9G>C
NM_000152.5(GAA):c.69C>A (p.Thr23=) rs746351336
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.711G>C (p.Ala237=)
NM_000152.5(GAA):c.714C>A (p.Pro238=)
NM_000152.5(GAA):c.717G>T (p.Leu239=)
NM_000152.5(GAA):c.723T>C (p.Phe241=)
NM_000152.5(GAA):c.726G>C (p.Ala242=) rs148578399
NM_000152.5(GAA):c.729C>T (p.Asp243=)
NM_000152.5(GAA):c.735C>T (p.Phe245=) rs1264222457
NM_000152.5(GAA):c.741G>A (p.Gln247=)
NM_000152.5(GAA):c.742C>T (p.Leu248=)
NM_000152.5(GAA):c.747C>G (p.Ser249=)
NM_000152.5(GAA):c.747C>T (p.Ser249=) rs1555599614
NM_000152.5(GAA):c.750C>T (p.Thr250=) rs2143846283
NM_000152.5(GAA):c.753G>A (p.Ser251=) rs761363283
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.756G>A (p.Leu252=)
NM_000152.5(GAA):c.759C>T (p.Pro253=) rs1352216789
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=)
NM_000152.5(GAA):c.765G>A (p.Gln255=) rs1450999199
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.777C>G (p.Gly259=)
NM_000152.5(GAA):c.777C>T (p.Gly259=)
NM_000152.5(GAA):c.783C>A (p.Ala261=) rs757356178
NM_000152.5(GAA):c.786G>A (p.Glu262=)
NM_000152.5(GAA):c.789C>T (p.His263=) rs1336545018
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=)
NM_000152.5(GAA):c.79C>T (p.Leu27=) rs538605208
NM_000152.5(GAA):c.807C>G (p.Leu269=)
NM_000152.5(GAA):c.816C>T (p.Ser272=) rs1405999158
NM_000152.5(GAA):c.822C>T (p.Thr274=)
NM_000152.5(GAA):c.841C>A (p.Arg281=)
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=)
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>A rs1464849313
NM_000152.5(GAA):c.858+12G>C
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+19G>T
NM_000152.5(GAA):c.858+20G>T
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+8insAGCGGGCAGCGGGC
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
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
NM_000152.5(GAA):c.859-14C>G
NM_000152.5(GAA):c.859-14C>T
NM_000152.5(GAA):c.859-16C>A
NM_000152.5(GAA):c.859-18G>C
NM_000152.5(GAA):c.859-20C>T
NM_000152.5(GAA):c.859-4C>G
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
NM_000152.5(GAA):c.859-9A>G rs888669731
NM_000152.5(GAA):c.861C>G (p.Pro287=)
NM_000152.5(GAA):c.867G>T (p.Ala289=) rs534515557
NM_000152.5(GAA):c.870C>T (p.Asn290=)
NM_000152.5(GAA):c.873C>T (p.Leu291=) rs1598575713
NM_000152.5(GAA):c.879G>A (p.Gly293=) rs2143849260
NM_000152.5(GAA):c.87C>T (p.His29=)
NM_000152.5(GAA):c.894C>T (p.Tyr298=)
NM_000152.5(GAA):c.897G>C (p.Leu299=)
NM_000152.5(GAA):c.900G>C (p.Ala300=)
NM_000152.5(GAA):c.900G>T (p.Ala300=) rs759425304
NM_000152.5(GAA):c.915G>T (p.Gly305=)
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.927G>T (p.Gly309=) rs886043779
NM_000152.5(GAA):c.930G>A (p.Val310=) rs2143849884
NM_000152.5(GAA):c.934C>T (p.Leu312=)
NM_000152.5(GAA):c.936G>A (p.Leu312=) rs1456154347
NM_000152.5(GAA):c.942C>T (p.Asn314=) rs2143850004
NM_000152.5(GAA):c.955+10C>A rs2143850207
NM_000152.5(GAA):c.955+11C>G
NM_000152.5(GAA):c.955+11C>T
NM_000152.5(GAA):c.955+12_955+18del
NM_000152.5(GAA):c.955+13C>T
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
NM_000152.5(GAA):c.955+19A>G
NM_000152.5(GAA):c.955+20G>C
NM_000152.5(GAA):c.955+43G>C
NM_000152.5(GAA):c.955+9C>T
NM_000152.5(GAA):c.956-11T>C rs2143852431
NM_000152.5(GAA):c.956-13G>T
NM_000152.5(GAA):c.956-17A>T rs2039141211
NM_000152.5(GAA):c.956-4C>T rs2143852512
NM_000152.5(GAA):c.956-7C>G
NM_000152.5(GAA):c.956-8C>T rs369149976
NM_000152.5(GAA):c.966G>A (p.Leu322=) rs1197362128
NM_000152.5(GAA):c.96C>G (p.Leu32=) rs1598569164
NM_000152.5(GAA):c.972G>C (p.Pro324=) rs763445243
NM_000152.5(GAA):c.996G>T (p.Ser332=) rs779266179
NM_000152.5(GAA):c.999A>G (p.Thr333=) rs1598576668

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