ClinVar Miner

List of variants reported as uncertain significance for blood coagulation disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2027
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HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000313.4(PROS1):c.258A>G (p.Leu86=) rs139964194 0.00058
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_000506.5(F2):c.191C>T (p.Thr64Met) rs142001812 0.00051
NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys) rs148175242 0.00047
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_145167.3(PIGM):c.950G>A (p.Cys317Tyr) rs138769872 0.00040
NM_003664.5(AP3B1):c.38G>C (p.Gly13Ala) rs139760966 0.00039
NM_000130.5(F5):c.2339C>T (p.Pro780Leu) rs200146772 0.00034
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_000313.4(PROS1):c.496A>C (p.Asn166His) rs758625995 0.00031
NM_012388.4(BLOC1S6):c.79C>T (p.Pro27Ser) rs138284359 0.00031
NM_001375834.1(WIPF1):c.776C>T (p.Ala259Val) rs139003789 0.00027
NM_000130.5(F5):c.4309A>T (p.Thr1437Ser) rs115148599 0.00026
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000313.4(PROS1):c.469+4C>T rs200980997 0.00024
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His) rs141832130 0.00023
NM_000419.5(ITGA2B):c.2363C>A (p.Ala788Asp) rs142445733 0.00021
NM_000488.4(SERPINC1):c.1265T>C (p.Ile422Thr) rs772809607 0.00021
NM_145167.3(PIGM):c.122G>A (p.Arg41Gln) rs139936490 0.00020
NM_000419.5(ITGA2B):c.118A>G (p.Thr40Ala) rs77120952 0.00019
NM_000419.5(ITGA2B):c.1708G>A (p.Gly570Arg) rs146382550 0.00018
NM_000313.4(PROS1):c.1324A>G (p.Ile442Val) rs768097849 0.00017
NM_000130.5(F5):c.6401C>T (p.Thr2134Met) rs199601865 0.00016
NM_012388.4(BLOC1S6):c.125T>C (p.Leu42Ser) rs201461886 0.00016
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu) rs201886263 0.00015
NM_000313.4(PROS1):c.1747A>C (p.Asn583His) rs139479630 0.00014
NM_000419.5(ITGA2B):c.457G>A (p.Ala153Thr) rs199641871 0.00014
NM_001375834.1(WIPF1):c.601C>T (p.Arg201Trp) rs770426754 0.00014
NM_000130.5(F5):c.3949G>A (p.Gly1317Ser) rs149048805 0.00013
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_003664.5(AP3B1):c.1741A>G (p.Ile581Val) rs751683762 0.00013
NM_000313.4(PROS1):c.1553C>T (p.Thr518Met) rs373336653 0.00012
NM_000313.4(PROS1):c.1727A>T (p.Glu576Val) rs528604865 0.00012
NM_145167.3(PIGM):c.230C>T (p.Thr77Ile) rs143391350 0.00012
NM_000313.4(PROS1):c.293C>G (p.Thr98Ser) rs142805170 0.00011
NM_000419.5(ITGA2B):c.1628G>A (p.Arg543Gln) rs139770734 0.00011
NM_001375834.1(WIPF1):c.1084A>G (p.Ser362Gly) rs147847123 0.00011
NM_001375834.1(WIPF1):c.694G>A (p.Gly232Arg) rs376855242 0.00011
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749 0.00011
NM_001754.5(RUNX1):c.1252A>G (p.Met418Val) rs578042376 0.00010
NM_001754.5(RUNX1):c.1253T>G (p.Met418Arg) rs202068364 0.00010
NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800 0.00010
NM_000313.4(PROS1):c.1331C>T (p.Pro444Leu) rs369244777 0.00009
NM_000419.5(ITGA2B):c.1366G>A (p.Val456Ile) rs142111372 0.00009
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn) rs141730361 0.00009
NM_001375834.1(WIPF1):c.857C>T (p.Pro286Leu) rs779235427 0.00009
NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg) rs766616397 0.00009
NM_003664.5(AP3B1):c.604-3T>C rs754016521 0.00009
NM_012388.4(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116 0.00009
NM_000313.4(PROS1):c.1183A>G (p.Ile395Val) rs368987511 0.00008
NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val) rs201042087 0.00008
NM_000488.4(SERPINC1):c.47T>C (p.Val16Ala) rs531137446 0.00008
NM_003664.5(AP3B1):c.1031G>A (p.Arg344His) rs765852823 0.00008
NM_012388.4(BLOC1S6):c.82+6del rs779246428 0.00008
NM_145167.3(PIGM):c.238C>G (p.Leu80Val) rs945112516 0.00008
NM_000133.4(F9):c.1346G>A (p.Arg449Gln) rs143018900 0.00007
NM_000312.4(PROC):c.322C>A (p.His108Asn) rs200234655 0.00007
NM_000313.4(PROS1):c.1043C>T (p.Ala348Val) rs769125007 0.00007
NM_000313.4(PROS1):c.1309G>A (p.Glu437Lys) rs771370692 0.00007
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu) rs138751237 0.00007
NM_003664.5(AP3B1):c.2779G>A (p.Gly927Ser) rs746205404 0.00007
NM_145167.3(PIGM):c.104A>G (p.Tyr35Cys) rs532931742 0.00007
NM_000312.4(PROC):c.52G>A (p.Gly18Ser) rs146793243 0.00006
NM_000313.4(PROS1):c.947G>A (p.Arg316His) rs747259055 0.00006
NM_000419.5(ITGA2B):c.1157G>A (p.Arg386Gln) rs767338191 0.00006
NM_001375834.1(WIPF1):c.51G>A (p.Leu17=) rs535169609 0.00006
NM_001375834.1(WIPF1):c.650C>T (p.Pro217Leu) rs11551322 0.00006
NM_001375834.1(WIPF1):c.698G>T (p.Gly233Val) rs372545449 0.00006
NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg) rs749004431 0.00006
NM_001754.5(RUNX1):c.917G>A (p.Arg306His) rs139336358 0.00006
NM_003664.5(AP3B1):c.131A>G (p.Asn44Ser) rs774098325 0.00006
NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn) rs370362655 0.00006
NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile) rs372847987 0.00006
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe) rs764100439 0.00006
NM_003664.5(AP3B1):c.823G>A (p.Glu275Lys) rs140209190 0.00006
NM_003664.5(AP3B1):c.835G>T (p.Asp279Tyr) rs751922416 0.00006
NM_145167.3(PIGM):c.137G>A (p.Arg46Lys) rs759956537 0.00006
NM_000313.4(PROS1):c.1247C>T (p.Pro416Leu) rs565325519 0.00005
NM_000313.4(PROS1):c.1324-3T>G rs200270949 0.00005
NM_000313.4(PROS1):c.1708G>A (p.Asp570Asn) rs755684845 0.00005
NM_000488.4(SERPINC1):c.886G>C (p.Ala296Pro) rs372820797 0.00005
NM_000488.4(SERPINC1):c.995C>T (p.Thr332Ile) rs567550044 0.00005
NM_001375834.1(WIPF1):c.1177C>T (p.Arg393Trp) rs143156793 0.00005
NM_001375834.1(WIPF1):c.55A>C (p.Asn19His) rs769425496 0.00005
NM_001375834.1(WIPF1):c.56A>G (p.Asn19Ser) rs369103774 0.00005
NM_001754.5(RUNX1):c.749G>A (p.Arg250His) rs771614642 0.00005
NM_003664.5(AP3B1):c.532T>C (p.Tyr178His) rs777268122 0.00005
NM_000312.4(PROC):c.112C>T (p.Arg38Trp) rs769900251 0.00004
NM_000312.4(PROC):c.127G>A (p.Ala43Thr) rs767626189 0.00004
NM_000312.4(PROC):c.534A>G (p.Ala178=) rs368367611 0.00004
NM_000312.4(PROC):c.571G>C (p.Glu191Gln) rs777364878 0.00004
NM_000312.4(PROC):c.580C>T (p.Arg194Cys) rs371071104 0.00004
NM_000312.4(PROC):c.730C>T (p.His244Tyr) rs759557871 0.00004
NM_000313.4(PROS1):c.1295G>A (p.Arg432Gln) rs1320598375 0.00004
NM_000313.4(PROS1):c.1816G>A (p.Val606Ile) rs371885410 0.00004
NM_000313.4(PROS1):c.346+5G>A rs865991206 0.00004
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_000419.5(ITGA2B):c.3060+2T>C rs74664206 0.00004
NM_000488.4(SERPINC1):c.872G>A (p.Arg291His) rs377588972 0.00004
NM_001375834.1(WIPF1):c.1295C>T (p.Pro432Leu) rs148300861 0.00004
NM_001375834.1(WIPF1):c.211G>A (p.Gly71Ser) rs140541247 0.00004
NM_001375834.1(WIPF1):c.827C>G (p.Ser276Cys) rs781658089 0.00004
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro) rs201094141 0.00004
NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala) rs2056451758 0.00004
NM_001754.5(RUNX1):c.54G>T (p.Met18Ile) rs371736038 0.00004
NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys) rs759078185 0.00004
NM_001754.5(RUNX1):c.801G>A (p.Met267Ile) rs757570529 0.00004
NM_001754.5(RUNX1):c.925G>A (p.Gly309Ser) rs752288830 0.00004
NM_003664.5(AP3B1):c.1325G>A (p.Cys442Tyr) rs1032054339 0.00004
NM_003664.5(AP3B1):c.1862C>G (p.Thr621Ser) rs796196281 0.00004
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val) rs779404585 0.00004
NM_003664.5(AP3B1):c.2132A>T (p.Asp711Val) rs145162631 0.00004
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln) rs151028592 0.00004
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg) rs764312417 0.00004
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly) rs554863664 0.00004
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr) rs374731803 0.00004
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_145167.3(PIGM):c.59G>A (p.Gly20Asp) rs747612971 0.00004
NM_000130.5(F5):c.2434C>T (p.His812Tyr) rs1310289906 0.00003
NM_000130.5(F5):c.5621T>C (p.Met1874Thr) rs377129476 0.00003
NM_000312.4(PROC):c.1318C>T (p.Arg440Cys) rs886054848 0.00003
NM_000312.4(PROC):c.386G>A (p.Arg129His) rs746190838 0.00003
NM_000313.4(PROS1):c.128A>G (p.Asn43Ser) rs748858986 0.00003
NM_000313.4(PROS1):c.148A>G (p.Lys50Glu) rs748630360 0.00003
NM_000313.4(PROS1):c.1564G>A (p.Val522Ile) rs758927346 0.00003
NM_000313.4(PROS1):c.269G>A (p.Arg90His) rs200886866 0.00003
NM_000313.4(PROS1):c.688G>A (p.Glu230Lys) rs575777099 0.00003
NM_000419.5(ITGA2B):c.1768C>T (p.Arg590Trp) rs373204738 0.00003
NM_001375834.1(WIPF1):c.1453C>T (p.Arg485Trp) rs1041727019 0.00003
NM_001754.5(RUNX1):c.1007T>C (p.Phe336Ser) rs752745196 0.00003
NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr) rs922736848 0.00003
NM_001754.5(RUNX1):c.1184C>T (p.Pro395Leu) rs868527382 0.00003
NM_001754.5(RUNX1):c.179C>T (p.Ala60Val) rs765314703 0.00003
NM_001754.5(RUNX1):c.205G>C (p.Gly69Arg) rs777168865 0.00003
NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys) rs561166961 0.00003
NM_001754.5(RUNX1):c.787C>T (p.Pro263Ser) rs370315332 0.00003
NM_001754.5(RUNX1):c.847C>A (p.Gln283Lys) rs374341207 0.00003
NM_001754.5(RUNX1):c.872T>C (p.Ile291Thr) rs371026644 0.00003
NM_001754.5(RUNX1):c.899C>T (p.Thr300Met) rs758682659 0.00003
NM_003664.5(AP3B1):c.1168-3T>C rs751674819 0.00003
NM_003664.5(AP3B1):c.1322C>T (p.Thr441Met) rs556341477 0.00003
NM_003664.5(AP3B1):c.193C>T (p.Arg65Trp) rs758616866 0.00003
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val) rs150765181 0.00003
NM_003664.5(AP3B1):c.279+6G>A rs1269853831 0.00003
NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly) rs746992047 0.00003
NM_003664.5(AP3B1):c.679C>T (p.Arg227Cys) rs748972774 0.00003
NM_003664.5(AP3B1):c.785A>G (p.Glu262Gly) rs756321242 0.00003
NM_003664.5(AP3B1):c.877A>G (p.Met293Val) rs538390986 0.00003
NM_012388.4(BLOC1S6):c.130A>G (p.Ile44Val) rs564232908 0.00003
NM_012388.4(BLOC1S6):c.224C>T (p.Thr75Ile) rs768978261 0.00003
NM_012388.4(BLOC1S6):c.315T>G (p.Phe105Leu) rs759539185 0.00003
NM_000312.4(PROC):c.1066C>T (p.Arg356Cys) rs776173921 0.00002
NM_000312.4(PROC):c.160A>T (p.Ser54Cys) rs376049280 0.00002
NM_000312.4(PROC):c.596G>A (p.Arg199Gln) rs773327173 0.00002
NM_000312.4(PROC):c.91G>A (p.Glu31Lys) rs779710709 0.00002
NM_000313.4(PROS1):c.149A>C (p.Lys50Thr) rs745579260 0.00002
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln) rs1286831963 0.00002
NM_000377.3(WAS):c.1129C>T (p.Arg377Cys) rs1257775061 0.00002
NM_000377.3(WAS):c.679C>T (p.Arg227Cys) rs1395882218 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_000419.5(ITGA2B):c.1769G>A (p.Arg590Gln) rs747930676 0.00002
NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys) rs764695432 0.00002
NM_000488.4(SERPINC1):c.883G>A (p.Val295Met) rs201381904 0.00002
NM_001375834.1(WIPF1):c.1289C>A (p.Pro430Gln) rs145467227 0.00002
NM_001375834.1(WIPF1):c.1505C>T (p.Pro502Leu) rs770286102 0.00002
NM_001375834.1(WIPF1):c.232G>A (p.Gly78Ser) rs759985968 0.00002
NM_001375834.1(WIPF1):c.235G>A (p.Gly79Arg) rs531744802 0.00002
NM_001375834.1(WIPF1):c.26C>T (p.Pro9Leu) rs766473130 0.00002
NM_001375834.1(WIPF1):c.509C>G (p.Pro170Arg) rs560424291 0.00002
NM_001375834.1(WIPF1):c.595C>T (p.His199Tyr) rs776631046 0.00002
NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser) rs1430804372 0.00002
NM_001754.5(RUNX1):c.220G>C (p.Gly74Arg) rs1435268371 0.00002
NM_001754.5(RUNX1):c.351+6G>T rs544853243 0.00002
NM_001754.5(RUNX1):c.414A>T (p.Glu138Asp) rs771823558 0.00002
NM_001754.5(RUNX1):c.667G>A (p.Glu223Lys) rs878854468 0.00002
NM_001754.5(RUNX1):c.692T>C (p.Leu231Pro) rs1408720761 0.00002
NM_001754.5(RUNX1):c.748C>T (p.Arg250Cys) rs1296210151 0.00002
NM_001754.5(RUNX1):c.938T>G (p.Leu313Arg) rs766264813 0.00002
NM_001754.5(RUNX1):c.985G>A (p.Ala329Thr) rs1415582429 0.00002
NM_001754.5(RUNX1):c.998C>G (p.Pro333Arg) rs200104203 0.00002
NM_003664.5(AP3B1):c.1331A>G (p.Asn444Ser) rs758805835 0.00002
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys) rs771964089 0.00002
NM_003664.5(AP3B1):c.1927G>A (p.Ala643Thr) rs775296594 0.00002
NM_003664.5(AP3B1):c.194G>A (p.Arg65Gln) rs150651515 0.00002
NM_003664.5(AP3B1):c.2048A>T (p.Glu683Val) rs768736531 0.00002
NM_003664.5(AP3B1):c.2287A>G (p.Lys763Glu) rs151082743 0.00002
NM_003664.5(AP3B1):c.2577T>C (p.Ser859=) rs755754414 0.00002
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu) rs1424373279 0.00002
NM_003664.5(AP3B1):c.942+6T>C rs759015208 0.00002
NM_012388.4(BLOC1S6):c.142G>T (p.Ala48Ser) rs200204287 0.00002
NM_012388.4(BLOC1S6):c.391A>G (p.Lys131Glu) rs1339131805 0.00002
NM_145167.3(PIGM):c.292C>A (p.Leu98Ile) rs758854084 0.00002
NM_000130.5(F5):c.1973T>C (p.Val658Ala) rs760114041 0.00001
NM_000130.5(F5):c.5000C>T (p.Pro1667Leu) rs200157005 0.00001
NM_000130.5(F5):c.6164G>A (p.Arg2055Gln) rs886045542 0.00001
NM_000130.5(F5):c.910G>A (p.Gly304Arg) rs747353298 0.00001
NM_000133.4(F9):c.122T>G (p.Leu41Arg) rs371373268 0.00001
NM_000312.4(PROC):c.1110C>A (p.His370Gln) rs778063605 0.00001
NM_000312.4(PROC):c.1120A>G (p.Ser374Gly) rs757880924 0.00001
NM_000312.4(PROC):c.118C>T (p.Arg40Cys) rs199514227 0.00001
NM_000312.4(PROC):c.1195G>A (p.Glu399Lys) rs764239787 0.00001
NM_000312.4(PROC):c.1237A>G (p.Thr413Ala) rs572021052 0.00001
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu) rs200012319 0.00001
NM_000312.4(PROC):c.286C>T (p.Pro96Ser) rs774908523 0.00001
NM_000312.4(PROC):c.340G>C (p.Gly114Arg) rs374476971 0.00001
NM_000312.4(PROC):c.372C>G (p.Ser124Arg) rs939496684 0.00001
NM_000312.4(PROC):c.524G>A (p.Cys175Tyr) rs199469474 0.00001
NM_000312.4(PROC):c.881G>A (p.Ser294Asn) rs200721675 0.00001
NM_000313.4(PROS1):c.1594A>G (p.Thr532Ala) rs371028997 0.00001
NM_000313.4(PROS1):c.1832T>C (p.Met611Thr) rs750531364 0.00001
NM_000313.4(PROS1):c.1981A>G (p.Ile661Val) rs141122478 0.00001
NM_000313.4(PROS1):c.449A>G (p.Gln150Arg) rs754149240 0.00001
NM_000313.4(PROS1):c.469+5G>A rs756682607 0.00001
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) rs1557007203 0.00001
NM_000377.3(WAS):c.1130G>A (p.Arg377His) rs868995772 0.00001
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1205C>T (p.Pro402Leu) rs1557007283 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.1300C>T (p.Leu434Phe) rs782605668 0.00001
NM_000377.3(WAS):c.458G>T (p.Ser153Ile) rs1557006588 0.00001
NM_000377.3(WAS):c.459T>G (p.Ser153Arg) rs1557006590 0.00001
NM_000377.3(WAS):c.68C>G (p.Pro23Arg) rs1464176187 0.00001
NM_000377.3(WAS):c.74C>T (p.Thr25Ile) rs374574436 0.00001
NM_000377.3(WAS):c.844A>G (p.Thr282Ala) rs1557007029 0.00001
NM_000377.3(WAS):c.926G>A (p.Arg309His) rs1557007058 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_000377.3(WAS):c.982C>T (p.Arg328Trp) rs1395979315 0.00001
NM_000377.3(WAS):c.989C>T (p.Pro330Leu) rs1178247738 0.00001
NM_000419.5(ITGA2B):c.1537G>A (p.Val513Met) rs112836157 0.00001
NM_000419.5(ITGA2B):c.1753-3T>A rs746932044 0.00001
NM_000419.5(ITGA2B):c.1762G>C (p.Asp588His) rs773196676 0.00001
NM_000419.5(ITGA2B):c.408G>C (p.Val136=) rs1400938437 0.00001
NM_000488.4(SERPINC1):c.1060C>T (p.Arg354Cys) rs765761813 0.00001
NM_000488.4(SERPINC1):c.31T>A (p.Ser11Thr) rs1445653081 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000488.4(SERPINC1):c.530G>A (p.Arg177His) rs878854020 0.00001
NM_000488.4(SERPINC1):c.716T>C (p.Ile239Thr) rs749510661 0.00001
NM_000488.4(SERPINC1):c.946A>T (p.Ile316Phe) rs1657686098 0.00001
NM_001375834.1(WIPF1):c.100A>G (p.Asn34Asp) rs373043385 0.00001
NM_001375834.1(WIPF1):c.1078C>T (p.Pro360Ser) rs771227574 0.00001
NM_001375834.1(WIPF1):c.10C>G (p.Pro4Ala) rs756471924 0.00001
NM_001375834.1(WIPF1):c.1229C>A (p.Pro410His) rs142991283 0.00001
NM_001375834.1(WIPF1):c.1233G>T (p.Arg411Ser) rs367686097 0.00001
NM_001375834.1(WIPF1):c.1373C>T (p.Pro458Leu) rs1481250623 0.00001
NM_001375834.1(WIPF1):c.1412C>T (p.Thr471Met) rs752911584 0.00001
NM_001375834.1(WIPF1):c.1454G>A (p.Arg485Gln) rs776761827 0.00001
NM_001375834.1(WIPF1):c.1468C>T (p.Arg490Ter) rs764306764 0.00001
NM_001375834.1(WIPF1):c.1481G>A (p.Gly494Asp) rs1423414500 0.00001
NM_001375834.1(WIPF1):c.244G>A (p.Gly82Arg) rs770105478 0.00001
NM_001375834.1(WIPF1):c.38C>T (p.Pro13Leu) rs770545171 0.00001
NM_001375834.1(WIPF1):c.409T>C (p.Ser137Pro) rs779896543 0.00001
NM_001375834.1(WIPF1):c.413C>T (p.Ala138Val) rs1684901977 0.00001
NM_001375834.1(WIPF1):c.419C>T (p.Pro140Leu) rs765784451 0.00001
NM_001375834.1(WIPF1):c.430C>A (p.Pro144Thr) rs144275492 0.00001
NM_001375834.1(WIPF1):c.600C>G (p.Asn200Lys) rs374598314 0.00001
NM_001375834.1(WIPF1):c.712T>C (p.Ser238Pro) rs1185793589 0.00001
NM_001375834.1(WIPF1):c.757C>T (p.Pro253Ser) rs763819289 0.00001
NM_001375834.1(WIPF1):c.76A>T (p.Asn26Tyr) rs774985492 0.00001
NM_001375834.1(WIPF1):c.860C>T (p.Pro287Leu) rs891642872 0.00001
NM_001754.5(RUNX1):c.1030G>A (p.Asp344Asn) rs759684186 0.00001
NM_001754.5(RUNX1):c.1033C>T (p.Pro345Ser) rs1234144396 0.00001
NM_001754.5(RUNX1):c.1034C>G (p.Pro345Arg) rs774629580 0.00001
NM_001754.5(RUNX1):c.1039A>G (p.Met347Val) rs1601333587 0.00001
NM_001754.5(RUNX1):c.1041G>A (p.Met347Ile) rs370114565 0.00001
NM_001754.5(RUNX1):c.1069C>T (p.Pro357Ser) rs375989348 0.00001
NM_001754.5(RUNX1):c.1073C>A (p.Thr358Lys) rs962671280 0.00001
NM_001754.5(RUNX1):c.1093G>C (p.Gly365Arg) rs752616540 0.00001
NM_001754.5(RUNX1):c.1109C>T (p.Ala370Val) rs1457932375 0.00001
NM_001754.5(RUNX1):c.110G>T (p.Ser37Ile) rs532264127 0.00001
NM_001754.5(RUNX1):c.1120G>A (p.Ala374Thr) rs1380391174 0.00001
NM_001754.5(RUNX1):c.1123A>C (p.Thr375Pro) rs2056456909 0.00001
NM_001754.5(RUNX1):c.1160G>C (p.Gly387Ala) rs1238015554 0.00001
NM_001754.5(RUNX1):c.1172C>G (p.Ala391Gly) rs1386664717 0.00001
NM_001754.5(RUNX1):c.1175A>G (p.Gln392Arg) rs1290940209 0.00001
NM_001754.5(RUNX1):c.1188C>G (p.Phe396Leu) rs1417292859 0.00001
NM_001754.5(RUNX1):c.11A>G (p.Asp4Gly) rs534158221 0.00001
NM_001754.5(RUNX1):c.1201C>T (p.Pro401Ser) rs1422877598 0.00001
NM_001754.5(RUNX1):c.1219T>C (p.Tyr407His) rs1262717333 0.00001
NM_001754.5(RUNX1):c.1229C>T (p.Ser410Leu) rs1214667759 0.00001
NM_001754.5(RUNX1):c.122C>T (p.Thr41Met) rs769087155 0.00001
NM_001754.5(RUNX1):c.1241A>G (p.Tyr414Cys) rs1277204124 0.00001
NM_001754.5(RUNX1):c.1245G>T (p.Gln415His) rs1376761452 0.00001
NM_001754.5(RUNX1):c.1259G>A (p.Gly420Asp) rs1442265949 0.00001
NM_001754.5(RUNX1):c.1261G>A (p.Gly421Ser) rs1241678655 0.00001
NM_001754.5(RUNX1):c.1266G>C (p.Glu422Asp) rs967317406 0.00001
NM_001754.5(RUNX1):c.1268G>C (p.Arg423Pro) rs1205896319 0.00001
NM_001754.5(RUNX1):c.1271C>T (p.Ser424Leu) rs1476276192 0.00001
NM_001754.5(RUNX1):c.1289C>T (p.Pro430Leu) rs1253570532 0.00001
NM_001754.5(RUNX1):c.1301A>G (p.Asn434Ser) rs748885850 0.00001
NM_001754.5(RUNX1):c.1322T>G (p.Leu441Arg) rs777551786 0.00001
NM_001754.5(RUNX1):c.1324C>T (p.Leu442Phe) rs1227184605 0.00001
NM_001754.5(RUNX1):c.1340C>T (p.Pro447Leu) rs1399289174 0.00001
NM_001754.5(RUNX1):c.1342A>T (p.Asn448Tyr) rs1168253908 0.00001
NM_001754.5(RUNX1):c.1347G>C (p.Gln449His) rs1463272999 0.00001
NM_001754.5(RUNX1):c.1354G>A (p.Val452Met) rs916623598 0.00001
NM_001754.5(RUNX1):c.1354G>C (p.Val452Leu) rs916623598 0.00001
NM_001754.5(RUNX1):c.13A>G (p.Ser5Gly) rs1248488974 0.00001
NM_001754.5(RUNX1):c.1403C>T (p.Pro468Leu) rs1034562071 0.00001
NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu) rs752298116 0.00001
NM_001754.5(RUNX1):c.182C>T (p.Pro61Leu) rs769213771 0.00001
NM_001754.5(RUNX1):c.239A>C (p.Glu80Ala) rs1313711063 0.00001
NM_001754.5(RUNX1):c.287A>G (p.Asn96Ser) rs754168875 0.00001
NM_001754.5(RUNX1):c.30T>A (p.Phe10Leu) rs1456298102 0.00001
NM_001754.5(RUNX1):c.322T>A (p.Cys108Ser) rs2057997947 0.00001
NM_001754.5(RUNX1):c.35C>T (p.Ser12Leu) rs750755857 0.00001
NM_001754.5(RUNX1):c.367G>C (p.Asp123His) rs373498347 0.00001
NM_001754.5(RUNX1):c.369T>A (p.Asp123Glu) rs768100078 0.00001
NM_001754.5(RUNX1):c.421T>G (p.Ser141Ala) rs1182543054 0.00001
NM_001754.5(RUNX1):c.442A>G (p.Thr148Ala) rs1264896287 0.00001
NM_001754.5(RUNX1):c.445G>A (p.Ala149Thr) rs752926959 0.00001
NM_001754.5(RUNX1):c.463G>C (p.Val155Leu) rs763464804 0.00001
NM_001754.5(RUNX1):c.464T>C (p.Val155Ala) rs750866158 0.00001
NM_001754.5(RUNX1):c.4G>A (p.Ala2Thr) rs748052737 0.00001
NM_001754.5(RUNX1):c.508+5G>A rs749241143 0.00001
NM_001754.5(RUNX1):c.523C>G (p.Leu175Val) rs868726626 0.00001
NM_001754.5(RUNX1):c.619C>T (p.Arg207Trp) rs1555890007 0.00001
NM_001754.5(RUNX1):c.623A>T (p.Gln208Leu) rs777320434 0.00001
NM_001754.5(RUNX1):c.629T>C (p.Leu210Pro) rs2057115551 0.00001
NM_001754.5(RUNX1):c.641C>T (p.Thr214Ile) rs747505757 0.00001
NM_001754.5(RUNX1):c.647C>T (p.Pro216Leu) rs773743843 0.00001
NM_001754.5(RUNX1):c.657G>C (p.Leu219Phe) rs1425437469 0.00001
NM_001754.5(RUNX1):c.697C>T (p.Arg233Cys) rs765528082 0.00001
NM_001754.5(RUNX1):c.712G>A (p.Val238Ile) rs761086208 0.00001
NM_001754.5(RUNX1):c.733C>T (p.Pro245Ser) rs1393294594 0.00001
NM_001754.5(RUNX1):c.737C>T (p.Thr246Met) rs555366994 0.00001
NM_001754.5(RUNX1):c.743A>C (p.Asn248Thr) rs747748983 0.00001
NM_001754.5(RUNX1):c.763C>A (p.His255Asn) rs2057111569 0.00001
NM_001754.5(RUNX1):c.764A>G (p.His255Arg) rs746977462 0.00001
NM_001754.5(RUNX1):c.77A>C (p.Asn26Thr) rs778220296 0.00001
NM_001754.5(RUNX1):c.780C>A (p.Asn260Lys) rs2057111228 0.00001
NM_001754.5(RUNX1):c.822A>T (p.Gln274His) rs370766377 0.00001
NM_001754.5(RUNX1):c.832C>T (p.Pro278Ser) rs767251526 0.00001
NM_001754.5(RUNX1):c.856C>A (p.Gln286Lys) rs769966051 0.00001
NM_001754.5(RUNX1):c.85A>G (p.Arg29Gly) rs1170323520 0.00001
NM_001754.5(RUNX1):c.884C>T (p.Ser295Phe) rs1054355302 0.00001
NM_001754.5(RUNX1):c.916C>T (p.Arg306Cys) rs202037007 0.00001
NM_001754.5(RUNX1):c.959G>A (p.Arg320Gln) rs761688033 0.00001
NM_001754.5(RUNX1):c.967A>G (p.Thr323Ala) rs776703625 0.00001
NM_001754.5(RUNX1):c.97+1G>A rs375131372 0.00001
NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser) rs746531841 0.00001
NM_001754.5(RUNX1):c.976G>A (p.Asp326Asn) rs1217420692 0.00001
NM_001754.5(RUNX1):c.98-5C>G rs1207133172 0.00001
NM_001754.5(RUNX1):c.980T>G (p.Leu327Arg) rs915447247 0.00001
NM_003664.5(AP3B1):c.1021C>T (p.Arg341Cys) rs964935640 0.00001
NM_003664.5(AP3B1):c.1034G>A (p.Ser345Asn) rs750036781 0.00001
NM_003664.5(AP3B1):c.104G>T (p.Gly35Val) rs1749668081 0.00001
NM_003664.5(AP3B1):c.1159A>G (p.Thr387Ala) rs762030946 0.00001
NM_003664.5(AP3B1):c.1160C>T (p.Thr387Ile) rs1744114827 0.00001
NM_003664.5(AP3B1):c.1176T>G (p.Ile392Met) rs758680279 0.00001
NM_003664.5(AP3B1):c.1220G>A (p.Arg407Gln) rs779980435 0.00001
NM_003664.5(AP3B1):c.1234T>C (p.Tyr412His) rs781034104 0.00001
NM_003664.5(AP3B1):c.1241A>G (p.Lys414Arg) rs778910104 0.00001
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val) rs201185966 0.00001
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp) rs1160297829 0.00001
NM_003664.5(AP3B1):c.1343G>A (p.Cys448Tyr) rs201877252 0.00001
NM_003664.5(AP3B1):c.1363G>A (p.Glu455Lys) rs1204234337 0.00001
NM_003664.5(AP3B1):c.136G>A (p.Asp46Asn) rs768641911 0.00001
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val) rs191850940 0.00001
NM_003664.5(AP3B1):c.1424A>G (p.Gln475Arg) rs1743147205 0.00001
NM_003664.5(AP3B1):c.1445A>G (p.His482Arg) rs370497154 0.00001
NM_003664.5(AP3B1):c.1554G>C (p.Leu518Phe) rs1364578273 0.00001
NM_003664.5(AP3B1):c.1648C>G (p.Gln550Glu) rs1384754808 0.00001
NM_003664.5(AP3B1):c.1679A>G (p.Asn560Ser) rs776064198 0.00001
NM_003664.5(AP3B1):c.168T>A (p.Asp56Glu) rs1274489549 0.00001
NM_003664.5(AP3B1):c.1718G>A (p.Arg573His) rs1229904606 0.00001
NM_003664.5(AP3B1):c.176A>G (p.Lys59Arg) rs1300050218 0.00001
NM_003664.5(AP3B1):c.1873A>T (p.Thr625Ser) rs199908785 0.00001
NM_003664.5(AP3B1):c.1903G>A (p.Glu635Lys) rs1381722917 0.00001
NM_003664.5(AP3B1):c.1934A>C (p.Asp645Ala) rs1317710866 0.00001
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln) rs748191084 0.00001
NM_003664.5(AP3B1):c.1972A>G (p.Lys658Glu) rs1357683810 0.00001
NM_003664.5(AP3B1):c.2007G>T (p.Glu669Asp) rs781781671 0.00001
NM_003664.5(AP3B1):c.2018A>G (p.Lys673Arg) rs763619135 0.00001
NM_003664.5(AP3B1):c.2022G>C (p.Lys674Asn) rs752440818 0.00001
NM_003664.5(AP3B1):c.2077+6T>C rs1432974932 0.00001
NM_003664.5(AP3B1):c.2120G>A (p.Gly707Glu) rs1244138366 0.00001
NM_003664.5(AP3B1):c.2189G>A (p.Arg730Gln) rs933653334 0.00001
NM_003664.5(AP3B1):c.2210A>G (p.Lys737Arg) rs780784576 0.00001
NM_003664.5(AP3B1):c.2311G>A (p.Glu771Lys) rs758351076 0.00001
NM_003664.5(AP3B1):c.2329G>A (p.Asp777Asn) rs751538828 0.00001
NM_003664.5(AP3B1):c.2384G>A (p.Arg795Lys) rs1017591456 0.00001
NM_003664.5(AP3B1):c.2482T>C (p.Ser828Pro) rs768483549 0.00001
NM_003664.5(AP3B1):c.2492T>A (p.Val831Asp) rs149948974 0.00001
NM_003664.5(AP3B1):c.2527A>G (p.Met843Val) rs201609994 0.00001
NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala) rs1056281695 0.00001
NM_003664.5(AP3B1):c.2627G>A (p.Arg876Gln) rs772186737 0.00001
NM_003664.5(AP3B1):c.2651C>T (p.Ala884Val) rs1225801616 0.00001
NM_003664.5(AP3B1):c.2686G>C (p.Gly896Arg) rs1338111569 0.00001
NM_003664.5(AP3B1):c.2708A>C (p.Gln903Pro) rs1240100716 0.00001
NM_003664.5(AP3B1):c.2758G>T (p.Gly920Trp) rs759300647 0.00001
NM_003664.5(AP3B1):c.2776A>G (p.Ile926Val) rs558325834 0.00001
NM_003664.5(AP3B1):c.2799T>A (p.Phe933Leu) rs1747935041 0.00001
NM_003664.5(AP3B1):c.27T>G (p.Asn9Lys) rs1170215351 0.00001
NM_003664.5(AP3B1):c.2809+4A>G rs747843144 0.00001
NM_003664.5(AP3B1):c.2822C>A (p.Pro941His) rs1022482616 0.00001
NM_003664.5(AP3B1):c.2894+4A>G rs544214699 0.00001
NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile) rs369459422 0.00001
NM_003664.5(AP3B1):c.292G>A (p.Val98Ile) rs780459865 0.00001
NM_003664.5(AP3B1):c.2992+3G>A rs779017901 0.00001
NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg) rs780143358 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr) rs776628092 0.00001
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile) rs535976982 0.00001
NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys) rs767072786 0.00001
NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp) rs761729448 0.00001
NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val) rs760735640 0.00001
NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu) rs976542118 0.00001
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile) rs773537846 0.00001
NM_003664.5(AP3B1):c.382A>G (p.Asn128Asp) rs758062316 0.00001
NM_003664.5(AP3B1):c.565A>G (p.Ile189Val) rs1393665689 0.00001
NM_003664.5(AP3B1):c.603+3A>G rs1357382699 0.00001
NM_003664.5(AP3B1):c.637G>C (p.Glu213Gln) rs1485047029 0.00001
NM_003664.5(AP3B1):c.739A>C (p.Met247Leu) rs1271543780 0.00001
NM_003664.5(AP3B1):c.813G>T (p.Lys271Asn) rs914618490 0.00001
NM_003664.5(AP3B1):c.821A>G (p.Tyr274Cys) rs989736183 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_003664.5(AP3B1):c.883C>A (p.Pro295Thr) rs570476100 0.00001
NM_003664.5(AP3B1):c.911C>T (p.Thr304Ile) rs201075567 0.00001
NM_003664.5(AP3B1):c.929G>C (p.Ser310Thr) rs778226822 0.00001
NM_003664.5(AP3B1):c.941C>T (p.Ala314Val) rs753218867 0.00001
NM_003664.5(AP3B1):c.97G>T (p.Ala33Ser) rs773073407 0.00001
NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn) rs149605903 0.00001
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val) rs779791657 0.00001
NM_012388.4(BLOC1S6):c.182T>G (p.Leu61Trp) rs1048656816 0.00001
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys) rs1427586266 0.00001
NM_012388.4(BLOC1S6):c.350A>G (p.Asn117Ser) rs1230644464 0.00001
NM_012388.4(BLOC1S6):c.421C>T (p.Gln141Ter) rs759015758 0.00001
NM_012388.4(BLOC1S6):c.500G>C (p.Arg167Thr) rs770901442 0.00001
NM_012388.4(BLOC1S6):c.508A>G (p.Lys170Glu) rs760751818 0.00001
NM_145167.3(PIGM):c.1199A>G (p.Asn400Ser) rs780718300 0.00001
NM_145167.3(PIGM):c.404C>T (p.Pro135Leu) rs143961780 0.00001
NM_145167.3(PIGM):c.412A>G (p.Met138Val) rs773106649 0.00001
NC_000001.10:g.(?_160000258)_(160001799_?)del
NC_000001.10:g.(?_169492415)_(169555624_?)dup
NC_000001.10:g.(?_173876568)_(173879100_?)dup
NC_000001.10:g.(?_173876568)_(173886568_?)dup
NC_000002.11:g.(?_175427255)_(175450321_?)dup
NC_000002.11:g.(?_175427275)_(175450301_?)dup
NC_000002.11:g.(?_175427275)_(175629122_?)dup
NC_000002.12:g.127418412T>C
NC_000003.11:g.(?_93593089)_(93772107_?)dup
NC_000005.10:g.(?_78020672)_(78089519_?)del
NC_000005.9:g.(?_77471430)_(77477506_?)del
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NC_000011.10:g.46723492G>T rs2134528259
NC_000011.9:g.(?_46722598)_(46761066_?)dup
NC_000015.9:g.(?_45879642)_(45898712_?)dup
NC_000021.8:g.(?_32439271)_(39212984_?)dup
NC_000021.8:g.(?_36111201)_(36231885_?)dup
NC_000021.8:g.(?_36111201)_(36265270_?)dup
NC_000021.8:g.(?_36164422)_(36421595_?)dup
NC_000021.8:g.(?_36164426)_(36231881_?)dup
NC_000021.8:g.(?_36164432)_(36164917_?)del
NC_000021.8:g.(?_36171588)_(36421595_?)dup
NC_000021.9:g.(?_34834400)_(34892973_?)dup
NC_000021.9:g.(?_35048832)_(35049298_?)dup
NC_000023.10:g.(?_138612860)_(138643034_?)dup
NC_000023.10:g.(?_138612860)_(138914348_?)dup
NC_000023.10:g.(?_48368209)_(51241672_?)dup
NC_000023.10:g.(?_48542223)_(48549573_?)dup
NC_000023.10:g.(?_48542243)_(48549553_?)dup
NC_000023.10:g.(?_48549478)_(48549573_?)dup
NC_000023.11:g.139530731A>G rs1927322453
NM_000130.5(F5):c.1154A>G (p.Asn385Ser)
NM_000130.5(F5):c.1189_1197del (p.Thr397_Tyr399del)
NM_000130.5(F5):c.1282A>G (p.Arg428Gly)
NM_000130.5(F5):c.1313T>C (p.Met438Thr)
NM_000130.5(F5):c.1336T>C (p.Tyr446His)
NM_000130.5(F5):c.1370A>T (p.Asp457Val)
NM_000130.5(F5):c.1412T>C (p.Met471Thr)
NM_000130.5(F5):c.1452G>C (p.Lys484Asn)
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000130.5(F5):c.149C>T (p.Thr50Ile)
NM_000130.5(F5):c.1592T>C (p.Leu531Pro)
NM_000130.5(F5):c.163A>G (p.Asn55Asp)
NM_000130.5(F5):c.1649T>C (p.Val550Ala)
NM_000130.5(F5):c.1667G>A (p.Ser556Asn)
NM_000130.5(F5):c.1761C>A (p.Ser587Arg)
NM_000130.5(F5):c.2009C>G (p.Pro670Arg)
NM_000130.5(F5):c.2016C>A (p.Ser672Arg)
NM_000130.5(F5):c.2247A>C (p.Glu749Asp)
NM_000130.5(F5):c.22C>T (p.Leu8Phe)
NM_000130.5(F5):c.2380C>A (p.Pro794Thr)
NM_000130.5(F5):c.2465C>T (p.Ser822Phe)
NM_000130.5(F5):c.2813A>C (p.Asn938Thr)
NM_000130.5(F5):c.2957C>T (p.Thr986Ile)
NM_000130.5(F5):c.2988T>G (p.Ser996Arg)
NM_000130.5(F5):c.3362T>G (p.Val1121Gly)
NM_000130.5(F5):c.3380A>G (p.Tyr1127Cys)
NM_000130.5(F5):c.3382C>A (p.Gln1128Lys)
NM_000130.5(F5):c.3430C>T (p.Pro1144Ser)
NM_000130.5(F5):c.3473A>T (p.Glu1158Val)
NM_000130.5(F5):c.3611T>G (p.Leu1204Arg)
NM_000130.5(F5):c.3697CCAGACCTCAGCCATACAACCCTTTCT[1] (p.1233PDLSHTTLS[1])
NM_000130.5(F5):c.3821T>C (p.Met1274Thr)
NM_000130.5(F5):c.3841A>G (p.Ser1281Gly)
NM_000130.5(F5):c.3961A>C (p.Ile1321Leu) rs112331368
NM_000130.5(F5):c.4013A>T (p.Asn1338Ile)
NM_000130.5(F5):c.4072T>C (p.Ser1358Pro)
NM_000130.5(F5):c.4085G>C (p.Ser1362Thr)
NM_000130.5(F5):c.4162C>G (p.Leu1388Val)
NM_000130.5(F5):c.425T>C (p.Val142Ala)
NM_000130.5(F5):c.4273G>A (p.Gly1425Ser)
NM_000130.5(F5):c.4285C>A (p.Leu1429Ile)
NM_000130.5(F5):c.4291C>G (p.Pro1431Ala)
NM_000130.5(F5):c.4339C>T (p.Leu1447Phe)
NM_000130.5(F5):c.4397C>A (p.Pro1466His)
NM_000130.5(F5):c.4409G>A (p.Ser1470Asn)
NM_000130.5(F5):c.4520T>A (p.Phe1507Tyr)
NM_000130.5(F5):c.4534A>G (p.Ile1512Val)
NM_000130.5(F5):c.4633C>A (p.Pro1545Thr) rs1571572391
NM_000130.5(F5):c.4676A>G (p.Asn1559Ser)
NM_000130.5(F5):c.470A>G (p.Asp157Gly)
NM_000130.5(F5):c.4778A>T (p.Tyr1593Phe)
NM_000130.5(F5):c.4819G>C (p.Asp1607His)
NM_000130.5(F5):c.4891C>T (p.Arg1631Cys)
NM_000130.5(F5):c.541G>T (p.Asp181Tyr)
NM_000130.5(F5):c.5502C>T (p.Gly1834=)
NM_000130.5(F5):c.5606T>G (p.Phe1869Cys)
NM_000130.5(F5):c.5665G>A (p.Gly1889Arg)
NM_000130.5(F5):c.5689C>A (p.Gln1897Lys)
NM_000130.5(F5):c.586+5G>A
NM_000130.5(F5):c.623A>G (p.Asp208Gly)
NM_000130.5(F5):c.6528G>C (p.Lys2176Asn)
NM_000130.5(F5):c.6622T>C (p.Trp2208Arg)
NM_000130.5(F5):c.713T>A (p.Val238Glu)
NM_000130.5(F5):c.883A>G (p.Thr295Ala)
NM_000130.5(F5):c.937C>G (p.Pro313Ala)
NM_000130.5(F5):c.971T>C (p.Ile324Thr)
NM_000133.4(F9):c.-19C>G rs761036720
NM_000133.4(F9):c.1046G>A (p.Gly349Glu) rs1928113004
NM_000133.4(F9):c.1073G>C (p.Arg358Thr)
NM_000133.4(F9):c.1112A>G (p.Tyr371Cys)
NM_000133.4(F9):c.1147C>G (p.Leu383Val) rs1677128088
NM_000133.4(F9):c.1148T>C (p.Leu383Pro) rs1387119011
NM_000133.4(F9):c.1213G>T (p.Asp405Tyr)
NM_000133.4(F9):c.1249A>G (p.Thr417Ala)
NM_000133.4(F9):c.1255G>A (p.Val419Met) rs1928127579
NM_000133.4(F9):c.1276A>C (p.Thr426Pro) rs1928129466
NM_000133.4(F9):c.1292G>T (p.Trp431Leu)
NM_000133.4(F9):c.1338G>C (p.Lys446Asn)
NM_000133.4(F9):c.163T>C (p.Phe55Leu) rs759987427
NM_000133.4(F9):c.182A>G (p.Glu61Gly) rs2148356134
NM_000133.4(F9):c.194T>C (p.Met65Thr)
NM_000133.4(F9):c.211T>C (p.Phe71Leu)
NM_000133.4(F9):c.253-3T>C
NM_000133.4(F9):c.364G>A (p.Gly122Arg) rs770120402
NM_000133.4(F9):c.392-7_392-4del rs2148361119
NM_000133.4(F9):c.413A>G (p.Asn138Ser) rs2148361153
NM_000133.4(F9):c.430T>C (p.Phe144Leu) rs2148361174
NM_000133.4(F9):c.44T>A (p.Ile15Asn) rs1927326780
NM_000133.4(F9):c.689G>C (p.Gly230Ala)
NM_000133.4(F9):c.89-3C>A
NM_000133.4(F9):c.949G>A (p.Ala317Thr)
NM_000133.4(F9):c.960A>C (p.Glu320Asp) rs1489951549
NM_000133.4(F9):c.984C>G (p.Asn328Lys)
NM_000312.4(PROC):c.1000G>T (p.Gly334Cys) rs121918150
NM_000312.4(PROC):c.1074C>A (p.Phe358Leu) rs769300513
NM_000312.4(PROC):c.1117T>A (p.Cys373Ser)
NM_000312.4(PROC):c.1142T>C (p.Val381Ala)
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) rs1688692415
NM_000312.4(PROC):c.1163C>G (p.Ala388Gly)
NM_000312.4(PROC):c.1177G>A (p.Asp393Asn)
NM_000312.4(PROC):c.1180C>T (p.Arg394Trp)
NM_000312.4(PROC):c.1196A>C (p.Glu399Ala)
NM_000312.4(PROC):c.1217T>A (p.Met406Lys)
NM_000312.4(PROC):c.1249G>A (p.Val417Met)
NM_000312.4(PROC):c.1249G>C (p.Val417Leu)
NM_000312.4(PROC):c.1266G>A (p.Trp422Ter) rs2104984463
NM_000312.4(PROC):c.1297G>A (p.Gly433Ser) rs1266965698
NM_000312.4(PROC):c.1305del (p.Val434_Tyr435insTer) rs2104984686
NM_000312.4(PROC):c.1307C>T (p.Thr436Ile)
NM_000312.4(PROC):c.1321T>C (p.Tyr441His)
NM_000312.4(PROC):c.138C>G (p.Phe46Leu)
NM_000312.4(PROC):c.156C>G (p.His52Gln) rs1558712064
NM_000312.4(PROC):c.164T>C (p.Leu55Pro)
NM_000312.4(PROC):c.205G>A (p.Ala69Thr) rs2104944789
NM_000312.4(PROC):c.206C>T (p.Ala69Val) rs984698204
NM_000312.4(PROC):c.208A>G (p.Lys70Glu)
NM_000312.4(PROC):c.20T>C (p.Leu7Pro)
NM_000312.4(PROC):c.236C>G (p.Thr79Arg)
NM_000312.4(PROC):c.250T>C (p.Ser84Pro)
NM_000312.4(PROC):c.262+6T>G
NM_000312.4(PROC):c.263-28T>G rs2104952137
NM_000312.4(PROC):c.26T>C (p.Leu9Pro)
NM_000312.4(PROC):c.299C>G (p.Pro100Arg) rs945459808
NM_000312.4(PROC):c.319G>A (p.Gly107Arg)
NM_000312.4(PROC):c.325G>T (p.Gly109Cys) rs1156578125
NM_000312.4(PROC):c.346G>C (p.Gly116Arg)
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) rs1436671530
NM_000312.4(PROC):c.364T>G (p.Cys122Gly)
NM_000312.4(PROC):c.388T>C (p.Phe130Leu) rs1558713430
NM_000312.4(PROC):c.400+9G>A
NM_000312.4(PROC):c.419G>C (p.Cys140Ser) rs747735192
NM_000312.4(PROC):c.452G>T (p.Cys151Phe)
NM_000312.4(PROC):c.505G>C (p.Gly169Arg)
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000312.4(PROC):c.628C>T (p.Pro210Ser)
NM_000312.4(PROC):c.632G>T (p.Arg211Leu) rs199469476
NM_000312.4(PROC):c.635T>C (p.Leu212Pro)
NM_000312.4(PROC):c.659G>C (p.Arg220Pro) rs121918153
NM_000312.4(PROC):c.677A>G (p.Gln226Arg) rs2104970575
NM_000312.4(PROC):c.678+9C>T rs1053253907
NM_000312.4(PROC):c.678G>A (p.Gln226=) rs121918155
NM_000312.4(PROC):c.697AAG[2] (p.Lys235del) rs1688554587
NM_000312.4(PROC):c.699G>T (p.Lys233Asn)
NM_000312.4(PROC):c.69T>C (p.Leu23=)
NM_000312.4(PROC):c.728T>C (p.Ile243Thr)
NM_000312.4(PROC):c.746T>C (p.Leu249Pro)
NM_000312.4(PROC):c.791G>A (p.Arg264Lys)
NM_000312.4(PROC):c.799G>A (p.Glu267Lys) rs1553425185
NM_000312.4(PROC):c.815G>A (p.Arg272His)
NM_000312.4(PROC):c.825G>C (p.Lys275Asn)
NM_000312.4(PROC):c.837C>A (p.Asp279Glu)
NM_000312.4(PROC):c.901G>A (p.Ala301Thr)
NM_000312.4(PROC):c.916G>T (p.Ala306Ser) rs1688673188
NM_000312.4(PROC):c.917C>T (p.Ala306Val)
NM_000312.4(PROC):c.945A>G (p.Ile315Met) rs1688675049
NM_000312.4(PROC):c.965A>G (p.Asp322Gly)
NM_000312.4(PROC):c.973C>A (p.Leu325Ile)
NM_000312.4(PROC):c.997G>A (p.Ala333Thr)
NM_000313.4(PROS1):c.*1_*2insSVAelement
NM_000313.4(PROS1):c.1009G>A (p.Val337Met)
NM_000313.4(PROS1):c.1069G>A (p.Gly357Arg)
NM_000313.4(PROS1):c.1076T>C (p.Ile359Thr)
NM_000313.4(PROS1):c.1079A>G (p.Glu360Gly) rs1576180176
NM_000313.4(PROS1):c.1084C>A (p.Gln362Lys) rs1559931820
NM_000313.4(PROS1):c.109G>T (p.Val37Phe)
NM_000313.4(PROS1):c.1124G>T (p.Gly375Val)
NM_000313.4(PROS1):c.1147T>C (p.Trp383Arg) rs1708453757
NM_000313.4(PROS1):c.1153A>G (p.Met385Val)
NM_000313.4(PROS1):c.1187G>A (p.Ser396Asn)
NM_000313.4(PROS1):c.118C>T (p.Arg40Cys)
NM_000313.4(PROS1):c.119G>A (p.Arg40His) rs7614835
NM_000313.4(PROS1):c.121C>T (p.Arg41Cys)
NM_000313.4(PROS1):c.1229C>A (p.Pro410His)
NM_000313.4(PROS1):c.122G>A (p.Arg41His)
NM_000313.4(PROS1):c.1241T>C (p.Phe414Ser)
NM_000313.4(PROS1):c.1265A>G (p.Glu422Gly)
NM_000313.4(PROS1):c.1294C>G (p.Arg432Gly)
NM_000313.4(PROS1):c.1323+4A>G
NM_000313.4(PROS1):c.1333C>T (p.Arg445Cys)
NM_000313.4(PROS1):c.1334G>A (p.Arg445His)
NM_000313.4(PROS1):c.1340A>T (p.Asp447Val)
NM_000313.4(PROS1):c.1345T>A (p.Cys449Ser)
NM_000313.4(PROS1):c.1352G>A (p.Arg451Gln)
NM_000313.4(PROS1):c.1424G>A (p.Cys475Tyr) rs766692725
NM_000313.4(PROS1):c.1445G>T (p.Gly482Val)
NM_000313.4(PROS1):c.1451A>G (p.Tyr484Cys) rs1576175763
NM_000313.4(PROS1):c.1454A>C (p.Tyr485Ser) rs1323663956
NM_000313.4(PROS1):c.1460G>A (p.Gly487Asp) rs2107137352
NM_000313.4(PROS1):c.1479T>A (p.Phe493Leu) rs1454230372
NM_000313.4(PROS1):c.1490A>G (p.Tyr497Cys)
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000313.4(PROS1):c.1501T>G (p.Ser501Ala) rs121918472
NM_000313.4(PROS1):c.1544G>A (p.Arg515His)
NM_000313.4(PROS1):c.1547C>T (p.Pro516Leu)
NM_000313.4(PROS1):c.1565T>A (p.Val522Asp) rs2107128754
NM_000313.4(PROS1):c.1612T>C (p.Ser538Pro)
NM_000313.4(PROS1):c.1617G>T (p.Leu539Phe)
NM_000313.4(PROS1):c.1644+2_1644+3insTT rs1218619325
NM_000313.4(PROS1):c.1644+4A>T
NM_000313.4(PROS1):c.1682G>A (p.Arg561Gln)
NM_000313.4(PROS1):c.1703G>A (p.Cys568Tyr)
NM_000313.4(PROS1):c.1724T>C (p.Leu575Pro)
NM_000313.4(PROS1):c.178G>A (p.Glu60Lys)
NM_000313.4(PROS1):c.1802A>G (p.Gln601Arg)
NM_000313.4(PROS1):c.1811T>G (p.Leu604Arg) rs2107125076
NM_000313.4(PROS1):c.183A>C (p.Glu61Asp)
NM_000313.4(PROS1):c.1840A>G (p.Lys614Glu)
NM_000313.4(PROS1):c.1843G>A (p.Val615Met)
NM_000313.4(PROS1):c.1847C>T (p.Ala616Val)
NM_000313.4(PROS1):c.1849A>G (p.Thr617Ala) rs2107124973
NM_000313.4(PROS1):c.1856T>C (p.Leu619Pro)
NM_000313.4(PROS1):c.1871-14T>G rs754929347
NM_000313.4(PROS1):c.1891C>T (p.Pro631Ser) rs1708153020
NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr) rs1576170616
NM_000313.4(PROS1):c.1936G>T (p.Gly646Cys) rs776022988
NM_000313.4(PROS1):c.1956T>G (p.Asp652Glu) rs1576170554
NM_000313.4(PROS1):c.1994C>T (p.Ser665Leu)
NM_000313.4(PROS1):c.2018C>A (p.Thr673Lys) rs1465989734
NM_000313.4(PROS1):c.234G>A (p.Thr78=) rs145399944
NM_000313.4(PROS1):c.235G>T (p.Asp79Tyr)
NM_000313.4(PROS1):c.253T>G (p.Tyr85Asp)
NM_000313.4(PROS1):c.260-7T>G rs373193429
NM_000313.4(PROS1):c.265C>T (p.Leu89Phe)
NM_000313.4(PROS1):c.266T>C (p.Leu89Pro)
NM_000313.4(PROS1):c.268C>T (p.Arg90Cys)
NM_000313.4(PROS1):c.269G>C (p.Arg90Pro) rs200886866
NM_000313.4(PROS1):c.301C>T (p.Arg101Cys)
NM_000313.4(PROS1):c.35T>A (p.Leu12Gln) rs1347697005
NM_000313.4(PROS1):c.47T>C (p.Leu16Pro) rs1709925832
NM_000313.4(PROS1):c.512G>C (p.Cys171Ser) rs1318913987
NM_000313.4(PROS1):c.538G>A (p.Gly180Arg) rs1708667113
NM_000313.4(PROS1):c.566G>A (p.Gly189Asp) rs1708666597
NM_000313.4(PROS1):c.59C>G (p.Pro20Arg)
NM_000313.4(PROS1):c.607G>T (p.Asp203Tyr)
NM_000313.4(PROS1):c.624G>T (p.Lys208Asn) rs1207595576
NM_000313.4(PROS1):c.664G>C (p.Gly222Arg) rs1559933951
NM_000313.4(PROS1):c.677G>A (p.Cys226Tyr) rs1553810751
NM_000313.4(PROS1):c.695A>G (p.Tyr232Cys) rs754454487
NM_000313.4(PROS1):c.701A>G (p.Tyr234Cys) rs387906675
NM_000313.4(PROS1):c.707T>G (p.Leu236Arg)
NM_000313.4(PROS1):c.718T>C (p.Ser240Pro)
NM_000313.4(PROS1):c.755G>A (p.Cys252Tyr)
NM_000313.4(PROS1):c.77-3C>A
NM_000313.4(PROS1):c.797A>G (p.Tyr266Cys)
NM_000313.4(PROS1):c.799T>C (p.Cys267Arg)
NM_000313.4(PROS1):c.925G>T (p.Val309Phe)
NM_000313.4(PROS1):c.942A>T (p.Lys314Asn)
NM_000313.4(PROS1):c.947G>C (p.Arg316Pro)
NM_000313.4(PROS1):c.963C>T (p.Ser321=)
NM_000313.4(PROS1):c.964_965delinsCC (p.Arg322Pro)
NM_000313.4(PROS1):c.965+5G>A
NM_000313.4(PROS1):c.971CAG[1] (p.Ala325del)
NM_000313.4(PROS1):c.980T>A (p.Phe327Tyr)
NM_000313.4(PROS1):c.986T>C (p.Phe329Ser) rs1576180273
NM_000313.4(PROS1):c.989G>A (p.Arg330Gln)
NM_000377.3(WAS):c.1009G>A (p.Gly337Ser)
NM_000377.3(WAS):c.1028C>T (p.Pro343Leu)
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del) rs1569494034
NM_000377.3(WAS):c.1067C>A (p.Pro356His)
NM_000377.3(WAS):c.1073G>A (p.Gly358Glu) rs267606468
NM_000377.3(WAS):c.1075C>A (p.Pro359Thr)
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser) rs2062428888
NM_000377.3(WAS):c.1084C>A (p.Pro362Thr) rs2147266477
NM_000377.3(WAS):c.1091G>A (p.Arg364Gln)
NM_000377.3(WAS):c.1106C>T (p.Pro369Leu)
NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)
NM_000377.3(WAS):c.1148C>T (p.Pro383Leu)
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr) rs1043747875
NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)
NM_000377.3(WAS):c.1189C>G (p.Pro397Ala)
NM_000377.3(WAS):c.1190C>T (p.Pro397Leu)
NM_000377.3(WAS):c.1196C>G (p.Pro399Arg) rs1602179582
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) rs782596670
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1219G>C (p.Gly407Arg)
NM_000377.3(WAS):c.1229C>G (p.Pro410Arg)
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)
NM_000377.3(WAS):c.1247C>T (p.Pro416Leu)
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr) rs782784813
NM_000377.3(WAS):c.1259T>C (p.Val420Ala)
NM_000377.3(WAS):c.1267G>A (p.Gly423Arg)
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) rs2062430786
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
NM_000377.3(WAS):c.1291C>T (p.Arg431Trp)
NM_000377.3(WAS):c.130T>G (p.Leu44Val)
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro) rs2062431125
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro) rs2062431180
NM_000377.3(WAS):c.1318C>A (p.Gln440Lys)
NM_000377.3(WAS):c.132+6C>T
NM_000377.3(WAS):c.1342C>T (p.Pro448Ser)
NM_000377.3(WAS):c.1343C>T (p.Pro448Leu)
NM_000377.3(WAS):c.1379C>G (p.Pro460Arg) rs782489472
NM_000377.3(WAS):c.1386C>G (p.Ser462Arg)
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
NM_000377.3(WAS):c.1453+6C>G
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys) rs2062438405
NM_000377.3(WAS):c.1458A>C (p.Glu486Asp) rs975384814
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1]) rs1569494232
NM_000377.3(WAS):c.1487A>C (p.Glu496Ala) rs2147268585
NM_000377.3(WAS):c.1490A>G (p.Asp497Gly)
NM_000377.3(WAS):c.149T>A (p.Val50Asp) rs2147262772
NM_000377.3(WAS):c.1507_1508dup (p.Ter503CysextTer?) rs2147268618
NM_000377.3(WAS):c.1508G>C (p.Ter503Ser)
NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)
NM_000377.3(WAS):c.156G>C (p.Gln52His)
NM_000377.3(WAS):c.164T>C (p.Leu55Pro) rs2062412293
NM_000377.3(WAS):c.194C>A (p.Thr65Asn)
NM_000377.3(WAS):c.227A>C (p.Lys76Thr) rs782350319
NM_000377.3(WAS):c.230A>G (p.Asp77Gly)
NM_000377.3(WAS):c.273G>A (p.Gln91=)
NM_000377.3(WAS):c.274-9C>G rs2062416001
NM_000377.3(WAS):c.274G>A (p.Ala92Thr)
NM_000377.3(WAS):c.280C>T (p.Arg94Trp)
NM_000377.3(WAS):c.281G>A (p.Arg94Gln)
NM_000377.3(WAS):c.28C>T (p.Pro10Ser)
NM_000377.3(WAS):c.296A>C (p.Gln99Pro) rs2062416153
NM_000377.3(WAS):c.296A>G (p.Gln99Arg) rs2062416153
NM_000377.3(WAS):c.335C>A (p.Pro112His)
NM_000377.3(WAS):c.335C>G (p.Pro112Arg)
NM_000377.3(WAS):c.344A>G (p.His115Arg) rs1569493774
NM_000377.3(WAS):c.360+6T>C
NM_000377.3(WAS):c.371C>A (p.Ala124Glu) rs782543817
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
NM_000377.3(WAS):c.388G>A (p.Asp130Asn) rs1557006548
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.404A>C (p.Gln135Pro)
NM_000377.3(WAS):c.412C>T (p.Arg138Trp) rs1372273668
NM_000377.3(WAS):c.421G>A (p.Val141Met)
NM_000377.3(WAS):c.427_429del (p.Glu143del)
NM_000377.3(WAS):c.436C>A (p.Gln146Lys)
NM_000377.3(WAS):c.456A>C (p.Gln152His)
NM_000377.3(WAS):c.467G>C (p.Arg156Thr) rs2062418154
NM_000377.3(WAS):c.46C>G (p.Pro16Ala)
NM_000377.3(WAS):c.481C>G (p.Pro161Ala)
NM_000377.3(WAS):c.482C>A (p.Pro161Gln) rs1569493803
NM_000377.3(WAS):c.49G>T (p.Ala17Ser) rs1569493673
NM_000377.3(WAS):c.505+4A>G
NM_000377.3(WAS):c.512G>A (p.Arg171Lys)
NM_000377.3(WAS):c.52G>A (p.Val18Ile) rs1569493676
NM_000377.3(WAS):c.530T>G (p.Leu177Arg)
NM_000377.3(WAS):c.533C>T (p.Pro178Leu) rs2062419034
NM_000377.3(WAS):c.541C>T (p.Pro181Ser)
NM_000377.3(WAS):c.547G>A (p.Gly183Arg)
NM_000377.3(WAS):c.554A>T (p.Gln185Leu) rs2147264325
NM_000377.3(WAS):c.565_566delinsAG (p.Pro189Arg) rs1569493862
NM_000377.3(WAS):c.593C>G (p.Ala198Gly)
NM_000377.3(WAS):c.601G>A (p.Asp201Asn) rs2147264847
NM_000377.3(WAS):c.610A>T (p.Asn204Tyr)
NM_000377.3(WAS):c.62A>T (p.Asn21Ile)
NM_000377.3(WAS):c.650C>A (p.Ala217Glu)
NM_000377.3(WAS):c.658C>T (p.Pro220Ser)
NM_000377.3(WAS):c.689A>G (p.Lys230Arg) rs1569493872
NM_000377.3(WAS):c.713T>C (p.Ile238Thr) rs2062422194
NM_000377.3(WAS):c.726T>G (p.Ser242Arg) rs947162120
NM_000377.3(WAS):c.734+3G>A
NM_000377.3(WAS):c.747C>A (p.His249Gln)
NM_000377.3(WAS):c.777+4A>C
NM_000377.3(WAS):c.777+5G>A
NM_000377.3(WAS):c.777+6dup rs2147265723
NM_000377.3(WAS):c.777C>T (p.Asp259=) rs2147265709
NM_000377.3(WAS):c.790G>A (p.Asp264Asn) rs2147265872
NM_000377.3(WAS):c.803G>C (p.Arg268Pro)
NM_000377.3(WAS):c.805A>T (p.Ser269Cys) rs2147265903
NM_000377.3(WAS):c.819G>C (p.Arg273Ser)
NM_000377.3(WAS):c.841C>A (p.Leu281Ile) rs2147265956
NM_000377.3(WAS):c.874G>A (p.Asp292Asn) rs2062427019
NM_000377.3(WAS):c.88_90del (p.His30del)
NM_000377.3(WAS):c.916G>A (p.Glu306Lys)
NM_000377.3(WAS):c.919A>G (p.Met307Val)
NM_000377.3(WAS):c.925C>T (p.Arg309Cys) rs1215457658
NM_000377.3(WAS):c.931+5G>C
NM_000377.3(WAS):c.947C>A (p.Pro316His) rs2147266241
NM_000377.3(WAS):c.953C>T (p.Pro318Leu)
NM_000377.3(WAS):c.959C>T (p.Ser320Phe)
NM_000377.3(WAS):c.97C>G (p.Gln33Glu) rs1569493682
NM_000377.3(WAS):c.983G>A (p.Arg328Gln)
NM_000377.3(WAS):c.991A>T (p.Ile331Phe) rs2147266334
NM_000377.3(WAS):c.992T>C (p.Ile331Thr)
NM_000377.3(WAS):c.998G>C (p.Gly333Ala)
NM_000419.5(ITGA2B):c.100C>A (p.Leu34Met)
NM_000419.5(ITGA2B):c.1076T>A (p.Val359Glu)
NM_000419.5(ITGA2B):c.10G>A (p.Ala4Thr)
NM_000419.5(ITGA2B):c.1105C>G (p.His369Asp)
NM_000419.5(ITGA2B):c.1105C>T (p.His369Tyr)
NM_000419.5(ITGA2B):c.1108G>A (p.Ala370Thr)
NM_000419.5(ITGA2B):c.1139G>A (p.Gly380Asp)
NM_000419.5(ITGA2B):c.1184G>A (p.Gly395Asp)
NM_000419.5(ITGA2B):c.1192G>T (p.Asp398Tyr) rs746322312
NM_000419.5(ITGA2B):c.1196G>A (p.Arg399Gln)
NM_000419.5(ITGA2B):c.1198G>A (p.Asp400Asn)
NM_000419.5(ITGA2B):c.119C>T (p.Thr40Ile)
NM_000419.5(ITGA2B):c.1210G>T (p.Asp404Tyr)
NM_000419.5(ITGA2B):c.1211-9T>G
NM_000419.5(ITGA2B):c.1214T>G (p.Ile405Ser)
NM_000419.5(ITGA2B):c.1220T>G (p.Val407Gly)
NM_000419.5(ITGA2B):c.1232A>G (p.Tyr411Cys)
NM_000419.5(ITGA2B):c.1245T>G (p.Ser415Arg)
NM_000419.5(ITGA2B):c.1271T>G (p.Leu424Arg)
NM_000419.5(ITGA2B):c.1297C>T (p.Arg433Cys)
NM_000419.5(ITGA2B):c.1298G>A (p.Arg433His)
NM_000419.5(ITGA2B):c.1316A>G (p.Asp439Gly)
NM_000419.5(ITGA2B):c.1317C>A (p.Asp439Glu)
NM_000419.5(ITGA2B):c.1353C>T (p.Ser451=)
NM_000419.5(ITGA2B):c.1358G>A (p.Arg453Gln)
NM_000419.5(ITGA2B):c.1375G>A (p.Asp459Asn)
NM_000419.5(ITGA2B):c.1377T>A (p.Asp459Glu)
NM_000419.5(ITGA2B):c.1378G>C (p.Asp460His)
NM_000419.5(ITGA2B):c.137A>G (p.Asn46Ser)
NM_000419.5(ITGA2B):c.1384G>A (p.Gly462Arg)
NM_000419.5(ITGA2B):c.1401C>G (p.Ile467Met)
NM_000419.5(ITGA2B):c.1414G>A (p.Gly472Arg)
NM_000419.5(ITGA2B):c.1447C>T (p.Pro483Ser)
NM_000419.5(ITGA2B):c.1466T>C (p.Val489Ala)
NM_000419.5(ITGA2B):c.146A>T (p.Gln49Leu)
NM_000419.5(ITGA2B):c.1498G>A (p.Ala500Thr)
NM_000419.5(ITGA2B):c.1525A>G (p.Thr509Ala)
NM_000419.5(ITGA2B):c.1531A>G (p.Thr511Ala)
NM_000419.5(ITGA2B):c.1551C>A (p.Asn517Lys)
NM_000419.5(ITGA2B):c.1558A>T (p.Met520Leu)
NM_000419.5(ITGA2B):c.1574C>T (p.Thr525Ile)
NM_000419.5(ITGA2B):c.1585A>C (p.Ile529Leu)
NM_000419.5(ITGA2B):c.1639C>T (p.Arg547Cys)
NM_000419.5(ITGA2B):c.1649G>A (p.Arg550Gln)
NM_000419.5(ITGA2B):c.1666G>T (p.Gly556Cys)
NM_000419.5(ITGA2B):c.1670C>G (p.Ser557Cys)
NM_000419.5(ITGA2B):c.1729C>A (p.His577Asn)
NM_000419.5(ITGA2B):c.1729C>T (p.His577Tyr)
NM_000419.5(ITGA2B):c.1751G>A (p.Arg584Gln)
NM_000419.5(ITGA2B):c.1756G>A (p.Glu586Lys)
NM_000419.5(ITGA2B):c.1793T>C (p.Leu598Pro)
NM_000419.5(ITGA2B):c.1833G>A (p.Met611Ile)
NM_000419.5(ITGA2B):c.189-11T>G
NM_000419.5(ITGA2B):c.189-18C>G
NM_000419.5(ITGA2B):c.1900G>A (p.Gly634Arg)
NM_000419.5(ITGA2B):c.1911C>G (p.Asp637Glu)
NM_000419.5(ITGA2B):c.1912G>A (p.Val638Ile)
NM_000419.5(ITGA2B):c.1949C>T (p.Thr650Met)
NM_000419.5(ITGA2B):c.194_202del (p.Ala65_Val67del)
NM_000419.5(ITGA2B):c.1960C>T (p.Leu654Phe)
NM_000419.5(ITGA2B):c.1999G>A (p.Asp667Asn)
NM_000419.5(ITGA2B):c.199G>A (p.Val67Met)
NM_000419.5(ITGA2B):c.2002G>A (p.Ala668Thr)
NM_000419.5(ITGA2B):c.2009A>G (p.Asn670Ser)
NM_000419.5(ITGA2B):c.2010C>A (p.Asn670Lys)
NM_000419.5(ITGA2B):c.2010C>G (p.Asn670Lys)
NM_000419.5(ITGA2B):c.2019G>C (p.Glu673Asp)
NM_000419.5(ITGA2B):c.2033C>T (p.Ala678Val)
NM_000419.5(ITGA2B):c.2044G>A (p.Val682Met)
NM_000419.5(ITGA2B):c.2045T>A (p.Val682Glu)
NM_000419.5(ITGA2B):c.2053C>A (p.Pro685Thr)
NM_000419.5(ITGA2B):c.2077G>A (p.Ala693Thr)
NM_000419.5(ITGA2B):c.209C>T (p.Ala70Val)
NM_000419.5(ITGA2B):c.2122AAG[1] (p.Lys709del)
NM_000419.5(ITGA2B):c.2133T>G (p.Asn711Lys)
NM_000419.5(ITGA2B):c.2143G>A (p.Val715Met)
NM_000419.5(ITGA2B):c.214C>T (p.Arg72Trp)
NM_000419.5(ITGA2B):c.2162G>A (p.Gly721Asp)
NM_000419.5(ITGA2B):c.2172GAA[2] (p.Lys726del)
NM_000419.5(ITGA2B):c.2183C>T (p.Ala728Val)
NM_000419.5(ITGA2B):c.2187+6G>T
NM_000419.5(ITGA2B):c.2189T>G (p.Ile730Arg)
NM_000419.5(ITGA2B):c.2201T>A (p.Met734Lys)
NM_000419.5(ITGA2B):c.2202G>A (p.Met734Ile)
NM_000419.5(ITGA2B):c.2206G>T (p.Val736Leu)
NM_000419.5(ITGA2B):c.2212G>A (p.Val738Met)
NM_000419.5(ITGA2B):c.2242G>A (p.Val748Met)
NM_000419.5(ITGA2B):c.2268-9C>G
NM_000419.5(ITGA2B):c.2291_2292delinsAA (p.Ser764Lys)
NM_000419.5(ITGA2B):c.2311G>A (p.Val771Met)
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)
NM_000419.5(ITGA2B):c.2321G>A (p.Arg774Gln)
NM_000419.5(ITGA2B):c.2336T>C (p.Val779Ala)
NM_000419.5(ITGA2B):c.2338G>A (p.Glu780Lys)
NM_000419.5(ITGA2B):c.2347G>A (p.Gly783Arg)
NM_000419.5(ITGA2B):c.2349-3C>T
NM_000419.5(ITGA2B):c.2377G>A (p.Ala793Thr)
NM_000419.5(ITGA2B):c.2384AAG[1] (p.Glu796del)
NM_000419.5(ITGA2B):c.2396G>C (p.Arg799Thr)
NM_000419.5(ITGA2B):c.2426C>T (p.Pro809Leu)
NM_000419.5(ITGA2B):c.2438A>C (p.His813Pro)
NM_000419.5(ITGA2B):c.2448+4T>C
NM_000419.5(ITGA2B):c.2480G>T (p.Gly827Val)
NM_000419.5(ITGA2B):c.248G>A (p.Gly83Asp)
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651
NM_000419.5(ITGA2B):c.2505G>A (p.Pro835=)
NM_000419.5(ITGA2B):c.2510A>G (p.Gln837Arg)
NM_000419.5(ITGA2B):c.2568G>T (p.Gln856His)
NM_000419.5(ITGA2B):c.2575C>T (p.Pro859Ser)
NM_000419.5(ITGA2B):c.2592C>A (p.Asn864Lys)
NM_000419.5(ITGA2B):c.2594C>T (p.Pro865Leu)
NM_000419.5(ITGA2B):c.2602-3C>T
NM_000419.5(ITGA2B):c.2660G>A (p.Arg887Gln)
NM_000419.5(ITGA2B):c.2725G>C (p.Val909Leu)
NM_000419.5(ITGA2B):c.2728-3C>T
NM_000419.5(ITGA2B):c.2741C>A (p.Ala914Glu)
NM_000419.5(ITGA2B):c.2747G>A (p.Cys916Tyr)
NM_000419.5(ITGA2B):c.2767C>G (p.Leu923Val)
NM_000419.5(ITGA2B):c.2773G>C (p.Glu925Gln)
NM_000419.5(ITGA2B):c.2794G>A (p.Ala932Thr)
NM_000419.5(ITGA2B):c.2806G>A (p.Val936Met)
NM_000419.5(ITGA2B):c.2841+13_2841+33del
NM_000419.5(ITGA2B):c.2850G>A (p.Leu950=)
NM_000419.5(ITGA2B):c.2911C>A (p.Pro971Thr)
NM_000419.5(ITGA2B):c.2930G>A (p.Arg977Gln)
NM_000419.5(ITGA2B):c.2943+3G>T
NM_000419.5(ITGA2B):c.2962C>T (p.Arg988Trp)
NM_000419.5(ITGA2B):c.2963G>A (p.Arg988Gln) rs368536313
NM_000419.5(ITGA2B):c.2993G>T (p.Trp998Leu)
NM_000419.5(ITGA2B):c.3061G>T (p.Val1021Phe)
NM_000419.5(ITGA2B):c.3082C>T (p.Arg1028Trp)
NM_000419.5(ITGA2B):c.3083G>A (p.Arg1028Gln)
NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) rs2048504826
NM_000419.5(ITGA2B):c.3101A>T (p.Asp1034Val)
NM_000419.5(ITGA2B):c.311G>T (p.Arg104Leu)
NM_000419.5(ITGA2B):c.316G>A (p.Glu106Lys)
NM_000419.5(ITGA2B):c.318G>C (p.Glu106Asp)
NM_000419.5(ITGA2B):c.361C>T (p.Arg121Cys)
NM_000419.5(ITGA2B):c.413G>T (p.Cys138Phe)
NM_000419.5(ITGA2B):c.444A>C (p.Glu148Asp)
NM_000419.5(ITGA2B):c.454G>A (p.Glu152Lys)
NM_000419.5(ITGA2B):c.495G>T (p.Gln165His)
NM_000419.5(ITGA2B):c.49G>A (p.Val17Met)
NM_000419.5(ITGA2B):c.501G>T (p.Glu167Asp)
NM_000419.5(ITGA2B):c.505G>A (p.Gly169Ser)
NM_000419.5(ITGA2B):c.511C>T (p.Arg171Cys)
NM_000419.5(ITGA2B):c.551G>T (p.Arg184Leu)
NM_000419.5(ITGA2B):c.574+3A>G
NM_000419.5(ITGA2B):c.575-10T>A
NM_000419.5(ITGA2B):c.575-3C>A
NM_000419.5(ITGA2B):c.599C>T (p.Ala200Val)
NM_000419.5(ITGA2B):c.624+6T>C
NM_000419.5(ITGA2B):c.637G>A (p.Val213Met)
NM_000419.5(ITGA2B):c.655G>A (p.Gly219Ser)
NM_000419.5(ITGA2B):c.670+6T>G
NM_000419.5(ITGA2B):c.685G>A (p.Ala229Thr)
NM_000419.5(ITGA2B):c.793T>C (p.Tyr265His)
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) rs2048627164
NM_000419.5(ITGA2B):c.819C>T (p.Gly273=)
NM_000419.5(ITGA2B):c.822G>C (p.Glu274Asp)
NM_000419.5(ITGA2B):c.859G>A (p.Gly287Ser)
NM_000419.5(ITGA2B):c.860G>A (p.Gly287Asp)
NM_000419.5(ITGA2B):c.887G>A (p.Gly296Glu)
NM_000419.5(ITGA2B):c.889G>A (p.Ala297Thr)
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) rs531610168
NM_000419.5(ITGA2B):c.891+5G>T
NM_000419.5(ITGA2B):c.892-5T>A
NM_000419.5(ITGA2B):c.902T>C (p.Leu301Ser)
NM_000419.5(ITGA2B):c.908C>A (p.Ser303Tyr)
NM_000419.5(ITGA2B):c.91G>A (p.Ala31Thr)
NM_000419.5(ITGA2B):c.941A>G (p.Glu314Gly)
NM_000419.5(ITGA2B):c.945+6G>A
NM_000419.5(ITGA2B):c.970G>A (p.Val324Met)
NM_000419.5(ITGA2B):c.976G>A (p.Val326Ile)
NM_000419.5(ITGA2B):c.992G>A (p.Gly331Glu)
NM_000419.5(ITGA2B):c.998G>A (p.Gly333Glu)
NM_000488.4(SERPINC1):c.1000G>A (p.Glu334Lys)
NM_000488.4(SERPINC1):c.1007T>C (p.Leu336Pro)
NM_000488.4(SERPINC1):c.1051C>T (p.His351Tyr)
NM_000488.4(SERPINC1):c.1078G>A (p.Gly360Ser)
NM_000488.4(SERPINC1):c.1099C>G (p.Leu367Val) rs1657673747
NM_000488.4(SERPINC1):c.1100T>G (p.Leu367Arg)
NM_000488.4(SERPINC1):c.1106A>G (p.Asp369Gly)
NM_000488.4(SERPINC1):c.1110G>A (p.Met370Ile)
NM_000488.4(SERPINC1):c.1121A>G (p.Asp374Gly)
NM_000488.4(SERPINC1):c.1123C>A (p.Leu375Met)
NM_000488.4(SERPINC1):c.1154G>A (p.Gly385Asp) rs878854018
NM_000488.4(SERPINC1):c.1204A>G (p.Lys402Glu)
NM_000488.4(SERPINC1):c.1206G>C (p.Lys402Asn) rs920003404
NM_000488.4(SERPINC1):c.1207G>T (p.Ala403Ser)
NM_000488.4(SERPINC1):c.1235G>A (p.Ser412Asn)
NM_000488.4(SERPINC1):c.1239A>C (p.Glu413Asp)
NM_000488.4(SERPINC1):c.1267G>A (p.Ala423Thr) rs1008874845
NM_000488.4(SERPINC1):c.1284C>G (p.Asn428Lys)
NM_000488.4(SERPINC1):c.1315C>T (p.Pro439Ser) rs1487411568
NM_000488.4(SERPINC1):c.1331T>A (p.Ile444Lys) rs2102773041
NM_000488.4(SERPINC1):c.1355T>C (p.Ile452Thr)
NM_000488.4(SERPINC1):c.1395A>C (p.Ter465Tyr)
NM_000488.4(SERPINC1):c.17T>C (p.Ile6Thr)
NM_000488.4(SERPINC1):c.21A>T (p.Gly7=)
NM_000488.4(SERPINC1):c.260A>G (p.Asn87Ser) rs2102789848
NM_000488.4(SERPINC1):c.269T>G (p.Phe90Cys)
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His) rs1657913203
NM_000488.4(SERPINC1):c.296C>A (p.Ala99Glu) rs2102789784
NM_000488.4(SERPINC1):c.331T>C (p.Ser111Pro)
NM_000488.4(SERPINC1):c.363G>A (p.Met121Ile) rs371222224
NM_000488.4(SERPINC1):c.399A>C (p.Gln133His) rs878854019
NM_000488.4(SERPINC1):c.408+5G>C
NM_000488.4(SERPINC1):c.410T>C (p.Val137Ala) rs1657792806
NM_000488.4(SERPINC1):c.485T>C (p.Leu162Pro) rs1657788029
NM_000488.4(SERPINC1):c.50_52dup (p.Tyr17_Leu18insHis)
NM_000488.4(SERPINC1):c.543C>A (p.Asp181Glu)
NM_000488.4(SERPINC1):c.551T>C (p.Leu184Pro)
NM_000488.4(SERPINC1):c.565_567del (p.Thr189del)
NM_000488.4(SERPINC1):c.568T>C (p.Tyr190His)
NM_000488.4(SERPINC1):c.603G>T (p.Lys201Asn)
NM_000488.4(SERPINC1):c.624+5_624+12del
NM_000488.4(SERPINC1):c.657C>G (p.Asn219Lys)
NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu) rs1657744293
NM_000488.4(SERPINC1):c.670A>C (p.Asn224His)
NM_000488.4(SERPINC1):c.752T>C (p.Ile251Thr)
NM_000488.4(SERPINC1):c.835T>C (p.Cys279Arg)
NM_000488.4(SERPINC1):c.860A>T (p.Glu287Val) rs1404578967
NM_000488.4(SERPINC1):c.875A>T (p.Tyr292Phe)
NM_000488.4(SERPINC1):c.88G>A (p.Val30Met)
NM_000488.4(SERPINC1):c.925G>A (p.Asp309Asn)
NM_000506.5(F2):c.1093G>T (p.Val365Leu)
NM_000506.5(F2):c.1140G>A (p.Met380Ile)
NM_000506.5(F2):c.124C>T (p.Arg42Trp)
NM_000506.5(F2):c.1277T>C (p.Ile426Thr)
NM_000506.5(F2):c.1298+3A>G
NM_000506.5(F2):c.1319A>C (p.Lys440Thr)
NM_000506.5(F2):c.1351C>A (p.Pro451Thr)
NM_000506.5(F2):c.1367G>A (p.Arg456Gln)
NM_000506.5(F2):c.137C>G (p.Thr46Ser)
NM_000506.5(F2):c.1411C>A (p.Pro471Thr)
NM_000506.5(F2):c.1411C>G (p.Pro471Ala)
NM_000506.5(F2):c.1598G>C (p.Arg533Pro)
NM_000506.5(F2):c.1627C>T (p.Arg543Cys)
NM_000506.5(F2):c.265+3G>T
NM_000506.5(F2):c.517G>C (p.Asp173His)
NM_000506.5(F2):c.558T>C (p.Cys186=)
NM_000506.5(F2):c.629T>C (p.Leu210Ser)
NM_000506.5(F2):c.650G>A (p.Arg217Gln)
NM_000506.5(F2):c.772G>C (p.Val258Leu)
NM_000506.5(F2):c.934G>A (p.Glu312Lys)
NM_000506.5(F2):c.977C>G (p.Pro326Arg)
NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe)
NM_001375834.1(WIPF1):c.1007A>G (p.Gln336Arg)
NM_001375834.1(WIPF1):c.1034C>T (p.Thr345Met) rs1684852145
NM_001375834.1(WIPF1):c.1043T>C (p.Leu348Ser)
NM_001375834.1(WIPF1):c.1085G>A (p.Ser362Asn) rs779795011
NM_001375834.1(WIPF1):c.1094C>T (p.Pro365Leu) rs1225689201
NM_001375834.1(WIPF1):c.1100C>T (p.Pro367Leu) rs1684847875
NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu) rs770870596
NM_001375834.1(WIPF1):c.1141C>T (p.Pro381Ser)
NM_001375834.1(WIPF1):c.116A>T (p.Asp39Val)
NM_001375834.1(WIPF1):c.1181C>T (p.Ala394Val)
NM_001375834.1(WIPF1):c.1196C>G (p.Pro399Arg) rs1684716723
NM_001375834.1(WIPF1):c.1196C>T (p.Pro399Leu)
NM_001375834.1(WIPF1):c.1252C>G (p.Leu418Val) rs371993338
NM_001375834.1(WIPF1):c.1252C>T (p.Leu418Phe)
NM_001375834.1(WIPF1):c.1258C>T (p.Pro420Ser) rs1684713583
NM_001375834.1(WIPF1):c.1271G>T (p.Ser424Ile)
NM_001375834.1(WIPF1):c.1283C>G (p.Pro428Arg)
NM_001375834.1(WIPF1):c.1303A>G (p.Thr435Ala) rs2105796927
NM_001375834.1(WIPF1):c.1316A>G (p.Asn439Ser) rs747335347
NM_001375834.1(WIPF1):c.1361T>A (p.Phe454Tyr)
NM_001375834.1(WIPF1):c.1364A>G (p.Tyr455Cys)
NM_001375834.1(WIPF1):c.13C>T (p.Pro5Ser) rs753073816
NM_001375834.1(WIPF1):c.1426C>A (p.Pro476Thr)
NM_001375834.1(WIPF1):c.1435C>G (p.Leu479Val)
NM_001375834.1(WIPF1):c.1441A>G (p.Arg481Gly) rs1684685114
NM_001375834.1(WIPF1):c.1457G>A (p.Ser486Asn)
NM_001375834.1(WIPF1):c.155A>G (p.Asn52Ser)
NM_001375834.1(WIPF1):c.16C>A (p.Pro6Thr) rs200376655
NM_001375834.1(WIPF1):c.16C>G (p.Pro6Ala)
NM_001375834.1(WIPF1):c.181A>C (p.Lys61Gln) rs1685234520
NM_001375834.1(WIPF1):c.19_20delinsAG (p.Pro7Arg) rs1685388514
NM_001375834.1(WIPF1):c.209G>A (p.Gly70Asp)
NM_001375834.1(WIPF1):c.217_219dup (p.Gly73_Phe74insGly)
NM_001375834.1(WIPF1):c.235G>C (p.Gly79Arg) rs531744802
NM_001375834.1(WIPF1):c.253G>C (p.Gly85Arg)
NM_001375834.1(WIPF1):c.253G>T (p.Gly85Cys)
NM_001375834.1(WIPF1):c.255_269del (p.Gly86_Gly90del) rs561738348
NM_001375834.1(WIPF1):c.265G>T (p.Gly89Cys)
NM_001375834.1(WIPF1):c.267_287dup (p.Gly90_Gly96dup) rs760752697
NM_001375834.1(WIPF1):c.271A>C (p.Ser91Arg)
NM_001375834.1(WIPF1):c.320G>C (p.Gly107Ala) rs773373271
NM_001375834.1(WIPF1):c.326C>T (p.Pro109Leu)
NM_001375834.1(WIPF1):c.34C>A (p.Pro12Thr)
NM_001375834.1(WIPF1):c.359A>T (p.Asp120Val)
NM_001375834.1(WIPF1):c.374G>A (p.Arg125Gln)
NM_001375834.1(WIPF1):c.392C>T (p.Pro131Leu) rs1435025827
NM_001375834.1(WIPF1):c.401G>A (p.Arg134Lys) rs1006829187
NM_001375834.1(WIPF1):c.403T>G (p.Ser135Ala)
NM_001375834.1(WIPF1):c.422T>C (p.Phe141Ser)
NM_001375834.1(WIPF1):c.427C>A (p.Pro143Thr)
NM_001375834.1(WIPF1):c.430C>G (p.Pro144Ala) rs144275492
NM_001375834.1(WIPF1):c.467G>A (p.Gly156Asp)
NM_001375834.1(WIPF1):c.469C>T (p.His157Tyr) rs1358662433
NM_001375834.1(WIPF1):c.509C>T (p.Pro170Leu) rs560424291
NM_001375834.1(WIPF1):c.51+4_51+7del rs1685384616
NM_001375834.1(WIPF1):c.532T>A (p.Ser178Thr)
NM_001375834.1(WIPF1):c.551C>T (p.Pro184Leu) rs752786667
NM_001375834.1(WIPF1):c.560T>C (p.Val187Ala)
NM_001375834.1(WIPF1):c.605G>C (p.Gly202Ala) rs1684887381
NM_001375834.1(WIPF1):c.613C>A (p.Pro205Thr) rs150415094
NM_001375834.1(WIPF1):c.61G>A (p.Glu21Lys) rs1685238274
NM_001375834.1(WIPF1):c.664T>G (p.Phe222Val) rs2105807074
NM_001375834.1(WIPF1):c.668C>G (p.Pro223Arg) rs2105807046
NM_001375834.1(WIPF1):c.679G>A (p.Gly227Ser)
NM_001375834.1(WIPF1):c.679G>T (p.Gly227Cys) rs778029521
NM_001375834.1(WIPF1):c.707G>C (p.Arg236Pro) rs1412093478
NM_001375834.1(WIPF1):c.723C>A (p.Ser241Arg)
NM_001375834.1(WIPF1):c.764C>A (p.Thr255Asn)
NM_001375834.1(WIPF1):c.778T>A (p.Leu260Met) rs1684872337
NM_001375834.1(WIPF1):c.811G>A (p.Val271Met) rs1684870740
NM_001375834.1(WIPF1):c.811G>C (p.Val271Leu) rs1684870740
NM_001375834.1(WIPF1):c.848C>G (p.Pro283Arg) rs369736015
NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del) rs556678311
NM_001375834.1(WIPF1):c.870C>G (p.Asn290Lys) rs2105806273
NM_001375834.1(WIPF1):c.893C>G (p.Pro298Arg)
NM_001375834.1(WIPF1):c.91G>T (p.Ala31Ser)
NM_001375834.1(WIPF1):c.926C>T (p.Pro309Leu)
NM_001375834.1(WIPF1):c.941G>A (p.Ser314Asn)
NM_001375834.1(WIPF1):c.971G>A (p.Ser324Asn) rs1397897929
NM_001375834.1(WIPF1):c.980G>A (p.Gly327Asp)
NM_001375834.1(WIPF1):c.983A>G (p.Asn328Ser)
NM_001754.5(RUNX1):c.-5_4del (p.Met1_Ala2del) rs2059419583
NM_001754.5(RUNX1):c.-9_14dup (p.Ser5fs)
NM_001754.5(RUNX1):c.1000C>T (p.Arg334Cys) rs2056460968
NM_001754.5(RUNX1):c.1004A>G (p.Gln335Arg) rs928106783
NM_001754.5(RUNX1):c.1005G>C (p.Gln335His)
NM_001754.5(RUNX1):c.1006T>A (p.Phe336Ile) rs756010562
NM_001754.5(RUNX1):c.1007T>G (p.Phe336Cys)
NM_001754.5(RUNX1):c.100G>A (p.Ala34Thr)
NM_001754.5(RUNX1):c.1012G>A (p.Ala338Thr) rs2056460468
NM_001754.5(RUNX1):c.1013C>T (p.Ala338Val) rs1273605678
NM_001754.5(RUNX1):c.1014_1033del (p.Leu339fs)
NM_001754.5(RUNX1):c.1015C>G (p.Leu339Val)
NM_001754.5(RUNX1):c.1016T>C (p.Leu339Pro) rs1197877669
NM_001754.5(RUNX1):c.1016T>G (p.Leu339Arg)
NM_001754.5(RUNX1):c.1019C>T (p.Pro340Leu) rs2145877800
NM_001754.5(RUNX1):c.101C>A (p.Ala34Asp) rs2058006183
NM_001754.5(RUNX1):c.101C>T (p.Ala34Val) rs2058006183
NM_001754.5(RUNX1):c.1024A>G (p.Ile342Val) rs2056460109
NM_001754.5(RUNX1):c.1025T>C (p.Ile342Thr) rs2145877771
NM_001754.5(RUNX1):c.1026C>G (p.Ile342Met)
NM_001754.5(RUNX1):c.1031A>T (p.Asp344Val)
NM_001754.5(RUNX1):c.1034C>A (p.Pro345His) rs774629580
NM_001754.5(RUNX1):c.1035_1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1036C>T (p.Arg346Cys)
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001754.5(RUNX1):c.1037G>A (p.Arg346His) rs1282562937
NM_001754.5(RUNX1):c.1037G>C (p.Arg346Pro)
NM_001754.5(RUNX1):c.1040T>G (p.Met347Arg)
NM_001754.5(RUNX1):c.1042C>T (p.His348Tyr) rs2056459478
NM_001754.5(RUNX1):c.1045T>C (p.Tyr349His) rs2145877527
NM_001754.5(RUNX1):c.1046A>G (p.Tyr349Cys)
NM_001754.5(RUNX1):c.1049C>T (p.Pro350Leu) rs2056459331
NM_001754.5(RUNX1):c.104G>A (p.Ser35Asn) rs1569084822
NM_001754.5(RUNX1):c.1051G>A (p.Gly351Ser)
NM_001754.5(RUNX1):c.1054G>A (p.Ala352Thr) rs1397164331
NM_001754.5(RUNX1):c.105C>A (p.Ser35Arg) rs1569084817
NM_001754.5(RUNX1):c.1070C>G (p.Pro357Arg) rs745561479
NM_001754.5(RUNX1):c.1070C>T (p.Pro357Leu) rs745561479
NM_001754.5(RUNX1):c.1072A>C (p.Thr358Pro)
NM_001754.5(RUNX1):c.1073C>T (p.Thr358Met) rs962671280
NM_001754.5(RUNX1):c.1075C>T (p.Pro359Ser)
NM_001754.5(RUNX1):c.1076C>G (p.Pro359Arg) rs1601333461
NM_001754.5(RUNX1):c.1076C>T (p.Pro359Leu)
NM_001754.5(RUNX1):c.1078G>C (p.Val360Leu)
NM_001754.5(RUNX1):c.107C>G (p.Thr36Arg) rs2058005989
NM_001754.5(RUNX1):c.1082C>G (p.Thr361Ser) rs1017287894
NM_001754.5(RUNX1):c.1082C>T (p.Thr361Ile) rs1017287894
NM_001754.5(RUNX1):c.1084T>G (p.Ser362Ala) rs2056458462
NM_001754.5(RUNX1):c.1085C>T (p.Ser362Leu)
NM_001754.5(RUNX1):c.1088G>C (p.Gly363Ala)
NM_001754.5(RUNX1):c.1090A>T (p.Ile364Phe) rs2056458260
NM_001754.5(RUNX1):c.1092C>G (p.Ile364Met)
NM_001754.5(RUNX1):c.1092CGGCAT[1] (p.364IG[1]) rs750495319
NM_001754.5(RUNX1):c.1092CGGCAT[3] (p.364IG[3]) rs750495319
NM_001754.5(RUNX1):c.1093G>A (p.Gly365Ser) rs752616540
NM_001754.5(RUNX1):c.1098C>G (p.Ile366Met)
NM_001754.5(RUNX1):c.1099G>C (p.Gly367Arg)
NM_001754.5(RUNX1):c.1099G>T (p.Gly367Cys) rs2145876825
NM_001754.5(RUNX1):c.1102A>C (p.Met368Leu) rs1256464750
NM_001754.5(RUNX1):c.1102A>T (p.Met368Leu) rs1256464750
NM_001754.5(RUNX1):c.1104G>A (p.Met368Ile) rs2056457761
NM_001754.5(RUNX1):c.1106C>T (p.Ser369Leu) rs755073984
NM_001754.5(RUNX1):c.1113G>A (p.Met371Ile) rs1348452375
NM_001754.5(RUNX1):c.1114G>A (p.Gly372Ser) rs2145876612
NM_001754.5(RUNX1):c.1114_1125dup (p.Gly372_Thr375dup) rs2056456863
NM_001754.5(RUNX1):c.1118C>T (p.Ser373Leu)
NM_001754.5(RUNX1):c.1127G>A (p.Arg376His)
NM_001754.5(RUNX1):c.1135A>G (p.Thr379Ala)
NM_001754.5(RUNX1):c.1139A>G (p.Tyr380Cys) rs2145876304
NM_001754.5(RUNX1):c.1142T>C (p.Leu381Pro)
NM_001754.5(RUNX1):c.1145C>G (p.Pro382Arg) rs2145876238
NM_001754.5(RUNX1):c.1148C>T (p.Pro383Leu)
NM_001754.5(RUNX1):c.1150C>A (p.Pro384Thr)
NM_001754.5(RUNX1):c.1150C>T (p.Pro384Ser) rs2056456531
NM_001754.5(RUNX1):c.1151C>T (p.Pro384Leu)
NM_001754.5(RUNX1):c.1154A>G (p.Tyr385Cys) rs2056456351
NM_001754.5(RUNX1):c.1157C>G (p.Pro386Arg) rs1569002337
NM_001754.5(RUNX1):c.1159_1161del (p.Gly387del) rs975536871
NM_001754.5(RUNX1):c.115C>T (p.Arg39Cys) rs1204043122
NM_001754.5(RUNX1):c.1162_1163delinsAA (p.Ser388Lys)
NM_001754.5(RUNX1):c.1166C>G (p.Ser389Trp)
NM_001754.5(RUNX1):c.1166_1186dup (p.Ser389_Pro395dup) rs1555884869
NM_001754.5(RUNX1):c.116G>A (p.Arg39His)
NM_001754.5(RUNX1):c.1171G>A (p.Ala391Thr)
NM_001754.5(RUNX1):c.1171G>C (p.Ala391Pro)
NM_001754.5(RUNX1):c.1172C>A (p.Ala391Glu) rs1386664717
NM_001754.5(RUNX1):c.1180G>A (p.Gly394Ser) rs2056455422
NM_001754.5(RUNX1):c.1181G>A (p.Gly394Asp) rs2145875783
NM_001754.5(RUNX1):c.1183C>T (p.Pro395Ser)
NM_001754.5(RUNX1):c.1184C>G (p.Pro395Arg) rs868527382
NM_001754.5(RUNX1):c.1186T>A (p.Phe396Ile) rs2145875671
NM_001754.5(RUNX1):c.1191A>T (p.Gln397His) rs1176713877
NM_001754.5(RUNX1):c.1196G>A (p.Ser399Asn) rs946348885
NM_001754.5(RUNX1):c.1196G>C (p.Ser399Thr) rs946348885
NM_001754.5(RUNX1):c.1196G>T (p.Ser399Ile) rs946348885
NM_001754.5(RUNX1):c.1197C>A (p.Ser399Arg) rs1555884864
NM_001754.5(RUNX1):c.1197C>G (p.Ser399Arg)
NM_001754.5(RUNX1):c.1199C>T (p.Ser400Leu) rs2056454601
NM_001754.5(RUNX1):c.1202C>T (p.Pro401Leu) rs1569002142
NM_001754.5(RUNX1):c.1208_1214del (p.Tyr403fs)
NM_001754.5(RUNX1):c.1214_1217dup (p.Tyr407fs) rs2056453893
NM_001754.5(RUNX1):c.121A>G (p.Thr41Ala)
NM_001754.5(RUNX1):c.1222G>C (p.Gly408Arg)
NM_001754.5(RUNX1):c.1225G>A (p.Ala409Thr) rs1569002104
NM_001754.5(RUNX1):c.1230_1235dup (p.Ala411_Gly412dup) rs2056453065
NM_001754.5(RUNX1):c.1231G>A (p.Ala411Thr) rs1256594190
NM_001754.5(RUNX1):c.1232C>T (p.Ala411Val) rs1233174774
NM_001754.5(RUNX1):c.1233_1236dup (p.Ser413fs)
NM_001754.5(RUNX1):c.1234G>A (p.Gly412Ser)
NM_001754.5(RUNX1):c.1234G>C (p.Gly412Arg) rs1601332742
NM_001754.5(RUNX1):c.1238_1240del (p.Ser413del)
NM_001754.5(RUNX1):c.1244A>C (p.Gln415Pro) rs2056452722
NM_001754.5(RUNX1):c.1247T>C (p.Phe416Ser)
NM_001754.5(RUNX1):c.1250C>G (p.Ser417Cys) rs2145874727
NM_001754.5(RUNX1):c.1250C>T (p.Ser417Phe)
NM_001754.5(RUNX1):c.1252A>C (p.Met418Leu)
NM_001754.5(RUNX1):c.1254G>A (p.Met418Ile) rs1357327999
NM_001754.5(RUNX1):c.1254G>C (p.Met418Ile)
NM_001754.5(RUNX1):c.1256T>C (p.Val419Ala) rs2056452215
NM_001754.5(RUNX1):c.125C>A (p.Pro42Gln) rs2146414125
NM_001754.5(RUNX1):c.125C>T (p.Pro42Leu)
NM_001754.5(RUNX1):c.1262G>C (p.Gly421Ala)
NM_001754.5(RUNX1):c.1264G>A (p.Glu422Lys)
NM_001754.5(RUNX1):c.1264G>C (p.Glu422Gln) rs2056451816
NM_001754.5(RUNX1):c.1264G>T (p.Glu422Ter) rs2056451816
NM_001754.5(RUNX1):c.1267C>T (p.Arg423Cys) rs1741971195
NM_001754.5(RUNX1):c.1268G>A (p.Arg423His)
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro) rs2056451534
NM_001754.5(RUNX1):c.1271C>A (p.Ser424Ter)
NM_001754.5(RUNX1):c.1271_1272insTCTC (p.Pro425fs)
NM_001754.5(RUNX1):c.1274C>T (p.Pro425Leu) rs2056451344
NM_001754.5(RUNX1):c.1277dup (p.Arg427fs)
NM_001754.5(RUNX1):c.127C>T (p.Pro43Ser) rs1555899881
NM_001754.5(RUNX1):c.1280G>C (p.Arg427Pro)
NM_001754.5(RUNX1):c.1280G>T (p.Arg427Leu) rs1060502577
NM_001754.5(RUNX1):c.1283T>G (p.Ile428Ser)
NM_001754.5(RUNX1):c.1283dup (p.Leu429fs) rs1555884845
NM_001754.5(RUNX1):c.1284C>G (p.Ile428Met)
NM_001754.5(RUNX1):c.1286T>C (p.Leu429Pro)
NM_001754.5(RUNX1):c.1286T>G (p.Leu429Arg) rs2056450952
NM_001754.5(RUNX1):c.1291C>G (p.Pro431Ala) rs2056450777
NM_001754.5(RUNX1):c.1292C>T (p.Pro431Leu) rs2056450734
NM_001754.5(RUNX1):c.1295G>A (p.Cys432Tyr)
NM_001754.5(RUNX1):c.1295G>C (p.Cys432Ser) rs1279963921
NM_001754.5(RUNX1):c.1295dup (p.Cys432fs)
NM_001754.5(RUNX1):c.1297A>G (p.Thr433Ala) rs2145873767
NM_001754.5(RUNX1):c.1298C>G (p.Thr433Ser) rs2145873756
NM_001754.5(RUNX1):c.12C>G (p.Asp4Glu) rs2059419520
NM_001754.5(RUNX1):c.1300A>G (p.Asn434Asp) rs1555884837
NM_001754.5(RUNX1):c.1303G>T (p.Ala435Ser)
NM_001754.5(RUNX1):c.1306T>G (p.Ser436Ala)
NM_001754.5(RUNX1):c.1307C>T (p.Ser436Phe)
NM_001754.5(RUNX1):c.1309A>G (p.Thr437Ala) rs2145873574
NM_001754.5(RUNX1):c.1310C>T (p.Thr437Ile) rs982238500
NM_001754.5(RUNX1):c.1312G>A (p.Gly438Ser)
NM_001754.5(RUNX1):c.1313G>A (p.Gly438Asp) rs2056450088
NM_001754.5(RUNX1):c.1318G>A (p.Ala440Thr)
NM_001754.5(RUNX1):c.1318G>C (p.Ala440Pro)
NM_001754.5(RUNX1):c.131C>G (p.Ser44Cys)
NM_001754.5(RUNX1):c.1321_1322delinsTG (p.Leu441Trp)
NM_001754.5(RUNX1):c.1322T>C (p.Leu441Pro) rs777551786
NM_001754.5(RUNX1):c.1328A>G (p.Asn443Ser)
NM_001754.5(RUNX1):c.1329C>A (p.Asn443Lys)
NM_001754.5(RUNX1):c.1336C>G (p.Leu446Val) rs2145873182
NM_001754.5(RUNX1):c.1336C>T (p.Leu446Phe)
NM_001754.5(RUNX1):c.133A>G (p.Thr45Ala)
NM_001754.5(RUNX1):c.133_135del (p.Thr45del) rs2146414026
NM_001754.5(RUNX1):c.1349G>A (p.Ser450Asn)
NM_001754.5(RUNX1):c.1353C>G (p.Asp451Glu)
NM_001754.5(RUNX1):c.1357G>A (p.Val453Met)
NM_001754.5(RUNX1):c.1362G>T (p.Glu454Asp)
NM_001754.5(RUNX1):c.1368G>C (p.Glu456Asp) rs1215912737
NM_001754.5(RUNX1):c.136G>A (p.Ala46Thr) rs2058005288
NM_001754.5(RUNX1):c.1370G>T (p.Gly457Val) rs572641102
NM_001754.5(RUNX1):c.1377C>G (p.His459Gln) rs2145872600
NM_001754.5(RUNX1):c.1378A>G (p.Ser460Gly) rs2056448645
NM_001754.5(RUNX1):c.1379G>A (p.Ser460Asn) rs2056448611
NM_001754.5(RUNX1):c.1381A>G (p.Asn461Asp) rs1196493708
NM_001754.5(RUNX1):c.1382A>C (p.Asn461Thr)
NM_001754.5(RUNX1):c.1382A>G (p.Asn461Ser)
NM_001754.5(RUNX1):c.1382A>T (p.Asn461Ile) rs1601332087
NM_001754.5(RUNX1):c.1387C>T (p.Pro463Ser) rs868387185
NM_001754.5(RUNX1):c.1388C>T (p.Pro463Leu) rs1601332036
NM_001754.5(RUNX1):c.1391C>T (p.Thr464Ile) rs2056448032
NM_001754.5(RUNX1):c.1396A>G (p.Met466Val) rs762213305
NM_001754.5(RUNX1):c.1397T>C (p.Met466Thr) rs1329096939
NM_001754.5(RUNX1):c.1397T>G (p.Met466Arg) rs1329096939
NM_001754.5(RUNX1):c.1399G>A (p.Ala467Thr)
NM_001754.5(RUNX1):c.1400C>A (p.Ala467Glu) rs1442794209
NM_001754.5(RUNX1):c.1405T>C (p.Ser469Pro)
NM_001754.5(RUNX1):c.1408G>A (p.Ala470Thr)
NM_001754.5(RUNX1):c.1409C>G (p.Ala470Gly)
NM_001754.5(RUNX1):c.1409C>T (p.Ala470Val) rs1601331921
NM_001754.5(RUNX1):c.140T>A (p.Leu47Gln) rs770530237
NM_001754.5(RUNX1):c.1412G>A (p.Arg471His) rs2056447396
NM_001754.5(RUNX1):c.1412G>T (p.Arg471Leu) rs2056447396
NM_001754.5(RUNX1):c.1412_1413del (p.Arg471fs) rs1555884790
NM_001754.5(RUNX1):c.1412_1413dup (p.Leu472fs) rs1555884790
NM_001754.5(RUNX1):c.1417G>T (p.Glu473Ter)
NM_001754.5(RUNX1):c.1418A>C (p.Glu473Ala) rs1569001446
NM_001754.5(RUNX1):c.1420G>A (p.Glu474Lys) rs2056446962
NM_001754.5(RUNX1):c.1422G>T (p.Glu474Asp) rs886057047
NM_001754.5(RUNX1):c.1423G>A (p.Ala475Thr) rs2056446865
NM_001754.5(RUNX1):c.1426G>A (p.Val476Met) rs1195996714
NM_001754.5(RUNX1):c.1426G>T (p.Val476Leu)
NM_001754.5(RUNX1):c.1427T>C (p.Val476Ala) rs2145871712
NM_001754.5(RUNX1):c.1431G>C (p.Trp477Cys)
NM_001754.5(RUNX1):c.1432_1433del (p.Arg478fs)
NM_001754.5(RUNX1):c.143G>A (p.Ser48Asn)
NM_001754.5(RUNX1):c.144C>A (p.Ser48Arg)
NM_001754.5(RUNX1):c.145C>A (p.Pro49Thr) rs755793721
NM_001754.5(RUNX1):c.145C>G (p.Pro49Ala)
NM_001754.5(RUNX1):c.145C>T (p.Pro49Ser)
NM_001754.5(RUNX1):c.148G>C (p.Gly50Arg)
NM_001754.5(RUNX1):c.149G>A (p.Gly50Asp) rs2146413739
NM_001754.5(RUNX1):c.153G>T (p.Lys51Asn)
NM_001754.5(RUNX1):c.154A>G (p.Met52Val)
NM_001754.5(RUNX1):c.156G>A (p.Met52Ile) rs1555899861
NM_001754.5(RUNX1):c.157A>G (p.Ser53Gly) rs1601529435
NM_001754.5(RUNX1):c.160G>A (p.Glu54Lys)
NM_001754.5(RUNX1):c.160G>C (p.Glu54Gln) rs2146413491
NM_001754.5(RUNX1):c.161A>G (p.Glu54Gly)
NM_001754.5(RUNX1):c.178G>C (p.Ala60Pro) rs1254381316
NM_001754.5(RUNX1):c.181C>A (p.Pro61Thr) rs776929941
NM_001754.5(RUNX1):c.181C>T (p.Pro61Ser) rs776929941
NM_001754.5(RUNX1):c.182C>G (p.Pro61Arg)
NM_001754.5(RUNX1):c.185A>G (p.Asp62Gly)
NM_001754.5(RUNX1):c.186C>A (p.Asp62Glu) rs886450546
NM_001754.5(RUNX1):c.186C>G (p.Asp62Glu) rs886450546
NM_001754.5(RUNX1):c.188C>T (p.Ala63Val)
NM_001754.5(RUNX1):c.190G>A (p.Gly64Ser) rs937170536
NM_001754.5(RUNX1):c.191_196del (p.Gly64_Ala65del) rs2146412458
NM_001754.5(RUNX1):c.193G>A (p.Ala65Thr)
NM_001754.5(RUNX1):c.193G>C (p.Ala65Pro)
NM_001754.5(RUNX1):c.194C>T (p.Ala65Val) rs2058002974
NM_001754.5(RUNX1):c.196G>A (p.Ala66Thr)
NM_001754.5(RUNX1):c.197C>A (p.Ala66Asp)
NM_001754.5(RUNX1):c.203C>T (p.Ala68Val)
NM_001754.5(RUNX1):c.205G>A (p.Gly69Ser) rs777168865
NM_001754.5(RUNX1):c.206G>A (p.Gly69Asp) rs769235124
NM_001754.5(RUNX1):c.206G>T (p.Gly69Val)
NM_001754.5(RUNX1):c.209A>C (p.Lys70Thr) rs1411791016
NM_001754.5(RUNX1):c.209A>G (p.Lys70Arg) rs1411791016
NM_001754.5(RUNX1):c.211C>G (p.Leu71Val)
NM_001754.5(RUNX1):c.217A>G (p.Ser73Gly) rs2146411773
NM_001754.5(RUNX1):c.219C>G (p.Ser73Arg) rs1157495777
NM_001754.5(RUNX1):c.221G>T (p.Gly74Val)
NM_001754.5(RUNX1):c.223G>T (p.Asp75Tyr) rs2058001847
NM_001754.5(RUNX1):c.226C>T (p.Arg76Cys) rs1487924415
NM_001754.5(RUNX1):c.227G>A (p.Arg76His) rs780816315
NM_001754.5(RUNX1):c.227G>C (p.Arg76Pro)
NM_001754.5(RUNX1):c.232A>G (p.Met78Val) rs878854467
NM_001754.5(RUNX1):c.232A>T (p.Met78Leu) rs878854467
NM_001754.5(RUNX1):c.233T>C (p.Met78Thr) rs2058001205
NM_001754.5(RUNX1):c.234G>A (p.Met78Ile) rs2146411164
NM_001754.5(RUNX1):c.236T>A (p.Val79Glu) rs1601529045
NM_001754.5(RUNX1):c.236T>C (p.Val79Ala) rs1601529045
NM_001754.5(RUNX1):c.238_243del (p.Glu80_Val81del) rs746764369
NM_001754.5(RUNX1):c.23A>G (p.Glu8Gly) rs2059419426
NM_001754.5(RUNX1):c.242T>C (p.Val81Ala) rs1601528976
NM_001754.5(RUNX1):c.245T>A (p.Leu82Gln) rs2146410813
NM_001754.5(RUNX1):c.248C>T (p.Ala83Val)
NM_001754.5(RUNX1):c.250G>A (p.Asp84Asn)
NM_001754.5(RUNX1):c.251A>G (p.Asp84Gly)
NM_001754.5(RUNX1):c.252C>G (p.Asp84Glu) rs2058000249
NM_001754.5(RUNX1):c.253C>T (p.His85Tyr) rs121912500
NM_001754.5(RUNX1):c.256C>G (p.Pro86Ala) rs56020428
NM_001754.5(RUNX1):c.257C>T (p.Pro86Leu) rs2057999909
NM_001754.5(RUNX1):c.259_260delinsAA (p.Gly87Asn) rs2146410250
NM_001754.5(RUNX1):c.25T>A (p.Ser9Thr)
NM_001754.5(RUNX1):c.262G>C (p.Glu88Gln) rs1235407698
NM_001754.5(RUNX1):c.264G>C (p.Glu88Asp) rs542902574
NM_001754.5(RUNX1):c.264G>T (p.Glu88Asp) rs542902574
NM_001754.5(RUNX1):c.268G>A (p.Val90Met) rs2057999447
NM_001754.5(RUNX1):c.26C>A (p.Ser9Ter)
NM_001754.5(RUNX1):c.26C>T (p.Ser9Leu) rs2147041888
NM_001754.5(RUNX1):c.275C>T (p.Thr92Ile)
NM_001754.5(RUNX1):c.278A>G (p.Asp93Gly) rs2146409620
NM_001754.5(RUNX1):c.283C>T (p.Pro95Ser) rs2057999086
NM_001754.5(RUNX1):c.284C>T (p.Pro95Leu)
NM_001754.5(RUNX1):c.298T>A (p.Ser100Thr)
NM_001754.5(RUNX1):c.299C>T (p.Ser100Phe)
NM_001754.5(RUNX1):c.29T>C (p.Phe10Ser) rs2147041857
NM_001754.5(RUNX1):c.301G>A (p.Val101Met) rs2146409049
NM_001754.5(RUNX1):c.301G>C (p.Val101Leu)
NM_001754.5(RUNX1):c.310A>G (p.Thr104Ala)
NM_001754.5(RUNX1):c.311C>T (p.Thr104Met)
NM_001754.5(RUNX1):c.316T>C (p.Trp106Arg) rs1555899735
NM_001754.5(RUNX1):c.318G>T (p.Trp106Cys)
NM_001754.5(RUNX1):c.319C>A (p.Arg107Ser) rs2057998063
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys) rs2057998063
NM_001754.5(RUNX1):c.31C>A (p.Pro11Thr)
NM_001754.5(RUNX1):c.31C>G (p.Pro11Ala)
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.330_331delinsTT (p.Lys110_Thr111delinsAsnSer)
NM_001754.5(RUNX1):c.331A>C (p.Thr111Pro) rs1555899722
NM_001754.5(RUNX1):c.331A>G (p.Thr111Ala) rs1555899722
NM_001754.5(RUNX1):c.332C>G (p.Thr111Ser)
NM_001754.5(RUNX1):c.332C>T (p.Thr111Ile) rs759974526
NM_001754.5(RUNX1):c.340A>G (p.Ile114Val) rs2146407952
NM_001754.5(RUNX1):c.341T>A (p.Ile114Asn)
NM_001754.5(RUNX1):c.341T>C (p.Ile114Thr)
NM_001754.5(RUNX1):c.343G>A (p.Ala115Thr)
NM_001754.5(RUNX1):c.346T>A (p.Phe116Ile)
NM_001754.5(RUNX1):c.349A>G (p.Lys117Glu) rs2146407735
NM_001754.5(RUNX1):c.351+3A>G
NM_001754.5(RUNX1):c.351+4C>T rs1229295922
NM_001754.5(RUNX1):c.351+5T>C rs1555899712
NM_001754.5(RUNX1):c.352G>A (p.Val118Met)
NM_001754.5(RUNX1):c.352G>T (p.Val118Leu) rs2057890361
NM_001754.5(RUNX1):c.355G>A (p.Val119Met) rs2057890159
NM_001754.5(RUNX1):c.356T>C (p.Val119Ala) rs2146363953
NM_001754.5(RUNX1):c.358G>A (p.Ala120Thr) rs2146363912
NM_001754.5(RUNX1):c.35C>G (p.Ser12Trp)
NM_001754.5(RUNX1):c.361C>A (p.Leu121Ile) rs2146363846
NM_001754.5(RUNX1):c.361C>G (p.Leu121Val)
NM_001754.5(RUNX1):c.367G>A (p.Asp123Asn) rs373498347
NM_001754.5(RUNX1):c.368A>G (p.Asp123Gly) rs2057889754
NM_001754.5(RUNX1):c.373C>T (p.Pro125Ser) rs2057889508
NM_001754.5(RUNX1):c.378T>G (p.Asp126Glu) rs2057889337
NM_001754.5(RUNX1):c.380G>T (p.Gly127Val) rs2146363397
NM_001754.5(RUNX1):c.388G>C (p.Val130Leu)
NM_001754.5(RUNX1):c.38A>T (p.Tyr13Phe) rs1601712203
NM_001754.5(RUNX1):c.391A>G (p.Thr131Ala) rs1555898641
NM_001754.5(RUNX1):c.397A>G (p.Met133Val)
NM_001754.5(RUNX1):c.3G>C (p.Met1Ile)
NM_001754.5(RUNX1):c.401C>T (p.Ala134Val) rs2146362916
NM_001754.5(RUNX1):c.407A>T (p.Asn136Ile)
NM_001754.5(RUNX1):c.408T>A (p.Asn136Lys) rs1569079130
NM_001754.5(RUNX1):c.40C>A (p.Pro14Thr) rs1189256233
NM_001754.5(RUNX1):c.40C>T (p.Pro14Ser)
NM_001754.5(RUNX1):c.412G>A (p.Glu138Lys) rs2057888324
NM_001754.5(RUNX1):c.414A>C (p.Glu138Asp) rs771823558
NM_001754.5(RUNX1):c.415A>G (p.Asn139Asp)
NM_001754.5(RUNX1):c.418T>C (p.Tyr140His)
NM_001754.5(RUNX1):c.421T>C (p.Ser141Pro)
NM_001754.5(RUNX1):c.422C>T (p.Ser141Leu) rs1601516118
NM_001754.5(RUNX1):c.428_439dup (p.Glu143_Asn146dup) rs2146361978
NM_001754.5(RUNX1):c.431T>C (p.Leu144Pro)
NM_001754.5(RUNX1):c.433A>G (p.Arg145Gly) rs757288001
NM_001754.5(RUNX1):c.436A>T (p.Asn146Tyr) rs2057887317
NM_001754.5(RUNX1):c.440C>G (p.Ala147Gly) rs2146361920
NM_001754.5(RUNX1):c.440C>T (p.Ala147Val) rs2146361920
NM_001754.5(RUNX1):c.443C>G (p.Thr148Ser)
NM_001754.5(RUNX1):c.443C>T (p.Thr148Ile) rs2057886829
NM_001754.5(RUNX1):c.449C>A (p.Ala150Asp)
NM_001754.5(RUNX1):c.44A>G (p.Gln15Arg) rs1451712499
NM_001754.5(RUNX1):c.451A>G (p.Met151Val) rs781461238
NM_001754.5(RUNX1):c.451A>T (p.Met151Leu)
NM_001754.5(RUNX1):c.453G>T (p.Met151Ile)
NM_001754.5(RUNX1):c.455A>G (p.Lys152Arg) rs913480708
NM_001754.5(RUNX1):c.45dup (p.Cys16fs) rs2059419230
NM_001754.5(RUNX1):c.461A>G (p.Gln154Arg) rs751954304
NM_001754.5(RUNX1):c.463G>A (p.Val155Ile) rs763464804
NM_001754.5(RUNX1):c.466G>A (p.Ala156Thr)
NM_001754.5(RUNX1):c.46_47del (p.Cys16fs) rs2147041720
NM_001754.5(RUNX1):c.475A>G (p.Asn159Asp) rs2057885323
NM_001754.5(RUNX1):c.479A>G (p.Asp160Gly) rs2146360919
NM_001754.5(RUNX1):c.482T>C (p.Leu161Pro) rs2057885248
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.485G>C (p.Arg162Thr)
NM_001754.5(RUNX1):c.488T>G (p.Phe163Cys) rs1569078862
NM_001754.5(RUNX1):c.490G>A (p.Val164Ile)
NM_001754.5(RUNX1):c.490G>T (p.Val164Phe) rs760221080
NM_001754.5(RUNX1):c.493G>A (p.Gly165Ser) rs993436723
NM_001754.5(RUNX1):c.500G>C (p.Ser167Thr) rs2146360406
NM_001754.5(RUNX1):c.501_508+2dup
NM_001754.5(RUNX1):c.503G>T (p.Gly168Val) rs2057884016
NM_001754.5(RUNX1):c.507A>G (p.Arg169=)
NM_001754.5(RUNX1):c.508+4C>A
NM_001754.5(RUNX1):c.508G>A (p.Gly170Arg)
NM_001754.5(RUNX1):c.509-3C>G rs2146237064
NM_001754.5(RUNX1):c.517T>C (p.Phe173Leu)
NM_001754.5(RUNX1):c.520A>G (p.Thr174Ala)
NM_001754.5(RUNX1):c.521C>T (p.Thr174Ile) rs2057542528
NM_001754.5(RUNX1):c.524T>A (p.Leu175Gln)
NM_001754.5(RUNX1):c.527C>A (p.Thr176Asn) rs2146236580
NM_001754.5(RUNX1):c.530_532dup (p.Ile177dup) rs1555894743
NM_001754.5(RUNX1):c.532A>C (p.Thr178Pro) rs1569061931
NM_001754.5(RUNX1):c.533C>G (p.Thr178Ser) rs2146236397
NM_001754.5(RUNX1):c.535G>A (p.Val179Ile) rs1302205736
NM_001754.5(RUNX1):c.546C>A (p.Asn182Lys)
NM_001754.5(RUNX1):c.54dup (p.Arg19fs)
NM_001754.5(RUNX1):c.551C>T (p.Pro184Leu)
NM_001754.5(RUNX1):c.557T>C (p.Val186Ala)
NM_001754.5(RUNX1):c.557T>G (p.Val186Gly)
NM_001754.5(RUNX1):c.559G>A (p.Ala187Thr) rs1429953108
NM_001754.5(RUNX1):c.559G>T (p.Ala187Ser) rs1429953108
NM_001754.5(RUNX1):c.560C>T (p.Ala187Val)
NM_001754.5(RUNX1):c.563C>G (p.Thr188Ser) rs1343295642
NM_001754.5(RUNX1):c.572G>A (p.Arg191Lys)
NM_001754.5(RUNX1):c.577A>G (p.Ile193Val) rs1569061812
NM_001754.5(RUNX1):c.58+5G>A rs2147041647
NM_001754.5(RUNX1):c.58+5_58+7del
NM_001754.5(RUNX1):c.580A>G (p.Lys194Glu)
NM_001754.5(RUNX1):c.581A>C (p.Lys194Thr) rs2146235183
NM_001754.5(RUNX1):c.581_586del (p.Lys194_Ile195del) rs1569061793
NM_001754.5(RUNX1):c.59-43688C>G
NM_001754.5(RUNX1):c.59-48942A>G
NM_001754.5(RUNX1):c.59-53465A>T
NM_001754.5(RUNX1):c.59-6T>C rs2058096569
NM_001754.5(RUNX1):c.590T>C (p.Val197Ala)
NM_001754.5(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.5(RUNX1):c.596G>C (p.Gly199Ala)
NM_001754.5(RUNX1):c.597_598insGCC (p.Gly199_Pro200insAla)
NM_001754.5(RUNX1):c.599C>A (p.Pro200His) rs2057540949
NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)
NM_001754.5(RUNX1):c.612A>G (p.Arg204=)
NM_001754.5(RUNX1):c.613+6T>C rs2146234153
NM_001754.5(RUNX1):c.614-3T>A rs762247645
NM_001754.5(RUNX1):c.617A>G (p.His206Arg) rs2057115881
NM_001754.5(RUNX1):c.620G>A (p.Arg207Gln) rs1229231012
NM_001754.5(RUNX1):c.623A>G (p.Gln208Arg) rs777320434
NM_001754.5(RUNX1):c.631G>C (p.Asp211His)
NM_001754.5(RUNX1):c.63C>A (p.Cys21Ter)
NM_001754.5(RUNX1):c.645G>T (p.Lys215Asn) rs1312588693
NM_001754.5(RUNX1):c.646C>T (p.Pro216Ser) rs1433717208
NM_001754.5(RUNX1):c.650G>C (p.Gly217Ala) rs1372473921
NM_001754.5(RUNX1):c.656T>C (p.Leu219Ser) rs2057114781
NM_001754.5(RUNX1):c.658T>C (p.Ser220Pro) rs2146076657
NM_001754.5(RUNX1):c.658T>G (p.Ser220Ala)
NM_001754.5(RUNX1):c.65T>C (p.Ile22Thr) rs749430925
NM_001754.5(RUNX1):c.662T>G (p.Phe221Cys) rs2057114648
NM_001754.5(RUNX1):c.664T>C (p.Ser222Pro)
NM_001754.5(RUNX1):c.670C>T (p.Arg224Trp) rs2057114397
NM_001754.5(RUNX1):c.671G>A (p.Arg224Gln) rs754894156
NM_001754.5(RUNX1):c.673C>T (p.Leu225Phe)
NM_001754.5(RUNX1):c.674T>G (p.Leu225Arg) rs2057114262
NM_001754.5(RUNX1):c.677G>C (p.Ser226Thr)
NM_001754.5(RUNX1):c.683T>C (p.Leu228Pro)
NM_001754.5(RUNX1):c.685G>A (p.Glu229Lys) rs1601415787
NM_001754.5(RUNX1):c.689A>G (p.Gln230Arg) rs2057113892
NM_001754.5(RUNX1):c.690_691delinsAA (p.Leu231Met) rs1569037241
NM_001754.5(RUNX1):c.695G>A (p.Arg232Gln) rs368711448
NM_001754.5(RUNX1):c.701C>T (p.Thr234Ile)
NM_001754.5(RUNX1):c.708G>A (p.Met236Ile) rs1060502578
NM_001754.5(RUNX1):c.708G>C (p.Met236Ile) rs1060502578
NM_001754.5(RUNX1):c.709A>G (p.Arg237Gly)
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg) rs1399187182
NM_001754.5(RUNX1):c.715A>T (p.Ser239Cys) rs770402861
NM_001754.5(RUNX1):c.716G>A (p.Ser239Asn)
NM_001754.5(RUNX1):c.716G>T (p.Ser239Ile)
NM_001754.5(RUNX1):c.718C>G (p.Pro240Ala) rs1569037137
NM_001754.5(RUNX1):c.718C>T (p.Pro240Ser) rs1569037137
NM_001754.5(RUNX1):c.719C>T (p.Pro240Leu)
NM_001754.5(RUNX1):c.71G>C (p.Gly24Ala) rs2146454339
NM_001754.5(RUNX1):c.722A>G (p.His241Arg)
NM_001754.5(RUNX1):c.723C>G (p.His241Gln) rs2057112854
NM_001754.5(RUNX1):c.727C>A (p.Pro243Thr) rs1420171638
NM_001754.5(RUNX1):c.728C>T (p.Pro243Leu) rs772889171
NM_001754.5(RUNX1):c.730G>A (p.Ala244Thr) rs2057112574
NM_001754.5(RUNX1):c.731C>T (p.Ala244Val) rs2146075500
NM_001754.5(RUNX1):c.734C>T (p.Pro245Leu)
NM_001754.5(RUNX1):c.736A>G (p.Thr246Ala) rs2057112296
NM_001754.5(RUNX1):c.737C>A (p.Thr246Lys) rs555366994
NM_001754.5(RUNX1):c.737C>G (p.Thr246Arg) rs555366994
NM_001754.5(RUNX1):c.739C>T (p.Pro247Ser) rs2057112093
NM_001754.5(RUNX1):c.74T>C (p.Met25Thr)
NM_001754.5(RUNX1):c.74T>G (p.Met25Arg) rs1389244175
NM_001754.5(RUNX1):c.762C>G (p.Asn254Lys) rs2146075007
NM_001754.5(RUNX1):c.766T>C (p.Ser256Pro)
NM_001754.5(RUNX1):c.767C>T (p.Ser256Phe)
NM_001754.5(RUNX1):c.770C>T (p.Thr257Ile) rs1555889935
NM_001754.5(RUNX1):c.772G>A (p.Ala258Thr)
NM_001754.5(RUNX1):c.772G>T (p.Ala258Ser) rs2146074844
NM_001754.5(RUNX1):c.779A>G (p.Asn260Ser) rs1569036981
NM_001754.5(RUNX1):c.781C>T (p.Pro261Ser) rs2146074722
NM_001754.5(RUNX1):c.782C>T (p.Pro261Leu) rs2146074704
NM_001754.5(RUNX1):c.785A>G (p.Gln262Arg)
NM_001754.5(RUNX1):c.790C>G (p.Gln264Glu) rs765362075
NM_001754.5(RUNX1):c.791A>G (p.Gln264Arg) rs2057110932
NM_001754.5(RUNX1):c.792G>C (p.Gln264His) rs2057110893
NM_001754.5(RUNX1):c.7del (p.Ser3fs) rs2147041983
NM_001754.5(RUNX1):c.803A>G (p.Gln268Arg)
NM_001754.5(RUNX1):c.805+1_805+2dup
NM_001754.5(RUNX1):c.805+4A>G
NM_001754.5(RUNX1):c.805+5G>A
NM_001754.5(RUNX1):c.805G>C (p.Asp269His) rs1060502574
NM_001754.5(RUNX1):c.806-3C>T rs866812011
NM_001754.5(RUNX1):c.818T>C (p.Ile273Thr) rs2145909999
NM_001754.5(RUNX1):c.823C>T (p.Pro275Ser) rs2056577888
NM_001754.5(RUNX1):c.829C>G (p.Pro277Ala)
NM_001754.5(RUNX1):c.829C>T (p.Pro277Ser) rs2145909839
NM_001754.5(RUNX1):c.82_84del (p.Ser28del) rs775050403
NM_001754.5(RUNX1):c.833C>T (p.Pro278Leu) rs759227406
NM_001754.5(RUNX1):c.837G>T (p.Trp279Cys) rs2056577465
NM_001754.5(RUNX1):c.842A>G (p.Tyr281Cys)
NM_001754.5(RUNX1):c.844G>A (p.Asp282Asn) rs762953695
NM_001754.5(RUNX1):c.844G>C (p.Asp282His)
NM_001754.5(RUNX1):c.848A>C (p.Gln283Pro) rs1555885620
NM_001754.5(RUNX1):c.848A>G (p.Gln283Arg) rs1555885620
NM_001754.5(RUNX1):c.849G>C (p.Gln283His) rs1056623039
NM_001754.5(RUNX1):c.854A>G (p.Tyr285Cys) rs1191218095
NM_001754.5(RUNX1):c.859T>C (p.Tyr287His)
NM_001754.5(RUNX1):c.865G>C (p.Gly289Arg) rs1258447643
NM_001754.5(RUNX1):c.869C>G (p.Ser290Cys)
NM_001754.5(RUNX1):c.86G>A (p.Arg29Lys)
NM_001754.5(RUNX1):c.877T>C (p.Ser293Pro)
NM_001754.5(RUNX1):c.883T>C (p.Ser295Pro) rs780399121
NM_001754.5(RUNX1):c.883_885del (p.Ser295del) rs771972670
NM_001754.5(RUNX1):c.886G>A (p.Val296Met) rs2145908772
NM_001754.5(RUNX1):c.891C>A (p.His297Gln) rs1235495225
NM_001754.5(RUNX1):c.893C>T (p.Pro298Leu)
NM_001754.5(RUNX1):c.899C>G (p.Thr300Arg) rs758682659
NM_001754.5(RUNX1):c.910C>T (p.Pro304Ser) rs2056575944
NM_001754.5(RUNX1):c.914G>T (p.Gly305Val)
NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro) rs139336358
NM_001754.5(RUNX1):c.91G>A (p.Val31Ile) rs567408332
NM_001754.5(RUNX1):c.920C>T (p.Ala307Val)
NM_001754.5(RUNX1):c.928A>T (p.Met310Leu) rs1476051141
NM_001754.5(RUNX1):c.92T>C (p.Val31Ala) rs2146454210
NM_001754.5(RUNX1):c.935C>A (p.Thr312Asn) rs2145907659
NM_001754.5(RUNX1):c.938T>C (p.Leu313Pro) rs766264813
NM_001754.5(RUNX1):c.941C>G (p.Ser314Cys) rs2056575081
NM_001754.5(RUNX1):c.946G>A (p.Glu316Lys) rs762642960
NM_001754.5(RUNX1):c.946G>C (p.Glu316Gln) rs762642960
NM_001754.5(RUNX1):c.947A>G (p.Glu316Gly)
NM_001754.5(RUNX1):c.948A>C (p.Glu316Asp) rs2056574953
NM_001754.5(RUNX1):c.950T>G (p.Leu317Arg)
NM_001754.5(RUNX1):c.952T>C (p.Ser318Pro) rs545554349
NM_001754.5(RUNX1):c.956G>A (p.Ser319Asn) rs2145907184
NM_001754.5(RUNX1):c.957_959del (p.Ser319del) rs2056574697
NM_001754.5(RUNX1):c.959G>T (p.Arg320Leu)
NM_001754.5(RUNX1):c.965del (p.Leu321_Ser322insTer) rs2145906988
NM_001754.5(RUNX1):c.967+5G>A rs2056574406
NM_001754.5(RUNX1):c.967+6C>G
NM_001754.5(RUNX1):c.968-3C>A
NM_001754.5(RUNX1):c.968C>A (p.Thr323Lys) rs1039736738
NM_001754.5(RUNX1):c.968C>G (p.Thr323Arg)
NM_001754.5(RUNX1):c.968C>T (p.Thr323Met) rs1039736738
NM_001754.5(RUNX1):c.97+1G>T rs375131372
NM_001754.5(RUNX1):c.97+4T>C rs754042987
NM_001754.5(RUNX1):c.97+6T>G
NM_001754.5(RUNX1):c.976G>T (p.Asp326Tyr) rs1217420692
NM_001754.5(RUNX1):c.978C>A (p.Asp326Glu)
NM_001754.5(RUNX1):c.978C>G (p.Asp326Glu)
NM_001754.5(RUNX1):c.979C>G (p.Leu327Val) rs1157267880
NM_001754.5(RUNX1):c.97G>A (p.Asp33Asn) rs781761402
NM_001754.5(RUNX1):c.97G>T (p.Asp33Tyr) rs781761402
NM_001754.5(RUNX1):c.98-2A>G
NM_001754.5(RUNX1):c.98-3dup rs2146414668
NM_001754.5(RUNX1):c.983C>A (p.Thr328Lys)
NM_001754.5(RUNX1):c.986C>T (p.Ala329Val) rs1358657401
NM_001754.5(RUNX1):c.988T>G (p.Phe330Val)
NM_001754.5(RUNX1):c.991A>C (p.Ser331Arg) rs937059549
NM_001754.5(RUNX1):c.991A>G (p.Ser331Gly)
NM_001754.5(RUNX1):c.992G>C (p.Ser331Thr) rs2056461235
NM_001754.5(RUNX1):c.993C>A (p.Ser331Arg)
NM_001754.5(RUNX1):c.994G>T (p.Asp332Tyr)
NM_001754.5(RUNX1):c.996C>G (p.Asp332Glu)
NM_001754.5(RUNX1):c.997C>T (p.Pro333Ser)
NM_001754.5(RUNX1):c.998C>T (p.Pro333Leu) rs200104203
NM_001754.5(RUNX1):c.999_1010dup (p.Arg334_Pro337dup) rs2145877966
NM_003664.5(AP3B1):c.1025T>C (p.Leu342Ser)
NM_003664.5(AP3B1):c.1030C>A (p.Arg344Ser) rs753341973
NM_003664.5(AP3B1):c.1035C>A (p.Ser345Arg) rs1744189442
NM_003664.5(AP3B1):c.1039A>G (p.Arg347Gly) rs774128940
NM_003664.5(AP3B1):c.1045G>T (p.Val349Leu)
NM_003664.5(AP3B1):c.1051T>G (p.Tyr351Asp)
NM_003664.5(AP3B1):c.1061T>A (p.Leu354Gln)
NM_003664.5(AP3B1):c.107T>C (p.Leu36Pro)
NM_003664.5(AP3B1):c.1080G>A (p.Met360Ile)
NM_003664.5(AP3B1):c.1088A>G (p.Gln363Arg)
NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)
NM_003664.5(AP3B1):c.110T>A (p.Phe37Tyr)
NM_003664.5(AP3B1):c.1111T>C (p.Tyr371His)
NM_003664.5(AP3B1):c.1125C>G (p.Phe375Leu) rs2112401517
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile) rs757985695
NM_003664.5(AP3B1):c.1167+1_1167+2dup rs2112401395
NM_003664.5(AP3B1):c.1180A>G (p.Thr394Ala)
NM_003664.5(AP3B1):c.1193A>G (p.Asn398Ser) rs759936403
NM_003664.5(AP3B1):c.1230+6T>C
NM_003664.5(AP3B1):c.1230G>C (p.Gln410His) rs2112377230
NM_003664.5(AP3B1):c.1231-11A>G rs1743450274
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr) rs778910104
NM_003664.5(AP3B1):c.1264G>A (p.Ala422Thr)
NM_003664.5(AP3B1):c.128+4A>G
NM_003664.5(AP3B1):c.1292G>A (p.Cys431Tyr) rs751127592
NM_003664.5(AP3B1):c.1297A>G (p.Thr433Ala)
NM_003664.5(AP3B1):c.1301A>C (p.Asn434Thr) rs1289085829
NM_003664.5(AP3B1):c.1301A>G (p.Asn434Ser)
NM_003664.5(AP3B1):c.1342T>C (p.Cys448Arg)
NM_003664.5(AP3B1):c.1367T>A (p.Ile456Lys)
NM_003664.5(AP3B1):c.1379A>T (p.Glu460Val)
NM_003664.5(AP3B1):c.1387GTT[1] (p.Val464del)
NM_003664.5(AP3B1):c.1390G>C (p.Val464Leu)
NM_003664.5(AP3B1):c.1395A>G (p.Ile465Met)
NM_003664.5(AP3B1):c.1427A>T (p.His476Leu)
NM_003664.5(AP3B1):c.1435A>C (p.Ile479Leu) rs2112357067
NM_003664.5(AP3B1):c.1436T>C (p.Ile479Thr) rs757746058
NM_003664.5(AP3B1):c.1438A>G (p.Ile480Val)
NM_003664.5(AP3B1):c.1495A>G (p.Ile499Val)
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln) rs193920974
NM_003664.5(AP3B1):c.1531C>T (p.Pro511Ser)
NM_003664.5(AP3B1):c.1544C>G (p.Pro515Arg) rs1753134356
NM_003664.5(AP3B1):c.1550T>C (p.Val517Ala) rs2112326945
NM_003664.5(AP3B1):c.1562T>C (p.Met521Thr)
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn) rs779511911
NM_003664.5(AP3B1):c.1589A>G (p.Asp530Gly)
NM_003664.5(AP3B1):c.1608A>G (p.Ile536Met)
NM_003664.5(AP3B1):c.1635A>C (p.Leu545Phe)
NM_003664.5(AP3B1):c.1675T>A (p.Leu559Ile) rs770281960
NM_003664.5(AP3B1):c.1702T>C (p.Tyr568His) rs1752591935
NM_003664.5(AP3B1):c.1717C>T (p.Arg573Cys)
NM_003664.5(AP3B1):c.1721C>T (p.Thr574Ile)
NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala) rs1580385068
NM_003664.5(AP3B1):c.1754T>C (p.Val585Ala) rs6453373
NM_003664.5(AP3B1):c.1756A>G (p.Lys586Glu)
NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)
NM_003664.5(AP3B1):c.1798G>C (p.Ala600Pro)
NM_003664.5(AP3B1):c.1811C>T (p.Ala604Val) rs2112300913
NM_003664.5(AP3B1):c.1838-2_1838-1insAAA rs1290648194
NM_003664.5(AP3B1):c.1840A>G (p.Arg614Gly) rs769757592
NM_003664.5(AP3B1):c.1853A>G (p.Gln618Arg) rs2112298805
NM_003664.5(AP3B1):c.1868C>T (p.Ser623Phe) rs755372821
NM_003664.5(AP3B1):c.1873A>G (p.Thr625Ala) rs199908785
NM_003664.5(AP3B1):c.1874C>G (p.Thr625Ser)
NM_003664.5(AP3B1):c.1874C>T (p.Thr625Ile)
NM_003664.5(AP3B1):c.1882A>G (p.Ile628Val)
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile) rs1752538898
NM_003664.5(AP3B1):c.1937C>T (p.Pro646Leu)
NM_003664.5(AP3B1):c.1951G>C (p.Val651Leu) rs755219130
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.5(AP3B1):c.1988C>T (p.Ala663Val) rs2112265534
NM_003664.5(AP3B1):c.2009A>C (p.Asn670Thr) rs757825991
NM_003664.5(AP3B1):c.2009A>G (p.Asn670Ser)
NM_003664.5(AP3B1):c.2015C>G (p.Ala672Gly) rs2112265444
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys) rs759438615
NM_003664.5(AP3B1):c.2066G>T (p.Ser689Ile)
NM_003664.5(AP3B1):c.2087C>G (p.Ser696Cys)
NM_003664.5(AP3B1):c.2095G>A (p.Glu699Lys)
NM_003664.5(AP3B1):c.211G>A (p.Ala71Thr)
NM_003664.5(AP3B1):c.2122_2123delinsTT (p.Glu708Leu) rs2112260341
NM_003664.5(AP3B1):c.2129G>A (p.Gly710Glu) rs777032367
NM_003664.5(AP3B1):c.2129G>C (p.Gly710Ala) rs777032367
NM_003664.5(AP3B1):c.2129G>T (p.Gly710Val) rs777032367
NM_003664.5(AP3B1):c.2131G>A (p.Asp711Asn)
NM_003664.5(AP3B1):c.2138A>G (p.Asn713Ser)
NM_003664.5(AP3B1):c.2146A>C (p.Ser716Arg) rs1365271615
NM_003664.5(AP3B1):c.2162C>G (p.Ser721Cys) rs2112260253
NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)
NM_003664.5(AP3B1):c.2218G>A (p.Ala740Thr)
NM_003664.5(AP3B1):c.2257G>A (p.Glu753Lys)
NM_003664.5(AP3B1):c.2270A>G (p.Lys757Arg) rs745461947
NM_003664.5(AP3B1):c.2279A>G (p.Glu760Gly) rs2112252523
NM_003664.5(AP3B1):c.2324T>C (p.Ile775Thr) rs62001050
NM_003664.5(AP3B1):c.2326G>A (p.Glu776Lys)
NM_003664.5(AP3B1):c.2332A>C (p.Ser778Arg) rs1334114879
NM_003664.5(AP3B1):c.2333G>A (p.Ser778Asn)
NM_003664.5(AP3B1):c.2336C>T (p.Ser779Phe)
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn) rs532221135
NM_003664.5(AP3B1):c.2353G>C (p.Glu785Gln)
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro) rs1747105618
NM_003664.5(AP3B1):c.2389G>A (p.Val797Ile) rs770603726
NM_003664.5(AP3B1):c.2401A>G (p.Lys801Glu)
NM_003664.5(AP3B1):c.2411A>C (p.Lys804Thr) rs1028498771
NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)
NM_003664.5(AP3B1):c.2452C>G (p.Leu818Val) rs1751097725
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser) rs1580331287
NM_003664.5(AP3B1):c.2492T>G (p.Val831Gly)
NM_003664.5(AP3B1):c.2513T>G (p.Leu838Arg)
NM_003664.5(AP3B1):c.2521A>G (p.Ser841Gly)
NM_003664.5(AP3B1):c.2531C>T (p.Ala844Val)
NM_003664.5(AP3B1):c.2542G>A (p.Gly848Ser)
NM_003664.5(AP3B1):c.2548C>A (p.His850Asn) rs201936976
NM_003664.5(AP3B1):c.2567C>T (p.Ser856Leu)
NM_003664.5(AP3B1):c.2573T>A (p.Ile858Asn)
NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)
NM_003664.5(AP3B1):c.2602A>G (p.Thr868Ala)
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met) rs1398038084
NM_003664.5(AP3B1):c.2629A>G (p.Met877Val)
NM_003664.5(AP3B1):c.262G>C (p.Ala88Pro)
NM_003664.5(AP3B1):c.2632A>G (p.Ser878Gly) rs2112100501
NM_003664.5(AP3B1):c.2641G>C (p.Gly881Arg) rs2112100469
NM_003664.5(AP3B1):c.2656T>C (p.Tyr886His) rs2112100439
NM_003664.5(AP3B1):c.265A>G (p.Ser89Gly) rs748322548
NM_003664.5(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.5(AP3B1):c.2674C>A (p.Pro892Thr) rs2112100401
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile) rs1747942141
NM_003664.5(AP3B1):c.2695_2696insATC (p.Met899delinsAsnLeu)
NM_003664.5(AP3B1):c.26A>G (p.Asn9Ser) rs868369063
NM_003664.5(AP3B1):c.2725A>G (p.Thr909Ala)
NM_003664.5(AP3B1):c.2726C>T (p.Thr909Ile) rs1747940185
NM_003664.5(AP3B1):c.2741T>C (p.Ile914Thr)
NM_003664.5(AP3B1):c.2759G>A (p.Gly920Glu)
NM_003664.5(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.5(AP3B1):c.2780G>A (p.Gly927Asp) rs866308304
NM_003664.5(AP3B1):c.2783T>C (p.Met928Thr)
NM_003664.5(AP3B1):c.280-4_280-3insG
NM_003664.5(AP3B1):c.2806A>G (p.Ile936Val)
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser)
NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg) rs2112091461
NM_003664.5(AP3B1):c.2894+6T>C
NM_003664.5(AP3B1):c.2899A>G (p.Lys967Glu)
NM_003664.5(AP3B1):c.28G>A (p.Glu10Lys) rs1749672035
NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser) rs1580247322
NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile) rs745653147
NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)
NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)
NM_003664.5(AP3B1):c.2993-3C>T rs1746824105
NM_003664.5(AP3B1):c.3038C>T (p.Ala1013Val)
NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala) rs781365567
NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)
NM_003664.5(AP3B1):c.3092A>G (p.Asn1031Ser)
NM_003664.5(AP3B1):c.310C>G (p.Arg104Gly) rs1746480237
NM_003664.5(AP3B1):c.3117G>C (p.Gln1039His)
NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His) rs764848036
NM_003664.5(AP3B1):c.311G>T (p.Arg104Leu)
NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg) rs2112054033
NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys) rs1397315776
NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala) rs137901104
NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)
NM_003664.5(AP3B1):c.338C>T (p.Ala113Val)
NM_003664.5(AP3B1):c.349A>G (p.Ile117Val)
NM_003664.5(AP3B1):c.34T>C (p.Ser12Pro) rs2112607296
NM_003664.5(AP3B1):c.353G>A (p.Ser118Asn) rs1746477844
NM_003664.5(AP3B1):c.387A>T (p.Gln129His) rs1229682546
NM_003664.5(AP3B1):c.403G>A (p.Ala135Thr) rs1270734050
NM_003664.5(AP3B1):c.425_427dup (p.Ile142dup) rs759424724
NM_003664.5(AP3B1):c.439A>G (p.Ile147Val) rs2112494710
NM_003664.5(AP3B1):c.454A>C (p.Met152Leu) rs2112494693
NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)
NM_003664.5(AP3B1):c.544C>T (p.Pro182Ser)
NM_003664.5(AP3B1):c.547G>C (p.Glu183Gln)
NM_003664.5(AP3B1):c.566T>C (p.Ile189Thr)
NM_003664.5(AP3B1):c.570A>G (p.Glu190=) rs2112491939
NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu) rs762212366
NM_003664.5(AP3B1):c.649G>A (p.Asp217Asn)
NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu) rs1302695682
NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu) rs869312837
NM_003664.5(AP3B1):c.725T>C (p.Val242Ala) rs1580498432
NM_003664.5(AP3B1):c.730A>G (p.Ile244Val)
NM_003664.5(AP3B1):c.734T>C (p.Ile245Thr) rs753890496
NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile) rs2112607227
NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu) rs1260956613
NM_003664.5(AP3B1):c.787G>A (p.Gly263Ser) rs1044368703
NM_003664.5(AP3B1):c.788G>A (p.Gly263Asp) rs1744376789
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly) rs147761913
NM_003664.5(AP3B1):c.835G>A (p.Asp279Asn) rs751922416
NM_003664.5(AP3B1):c.836A>T (p.Asp279Val) rs1744372518
NM_003664.5(AP3B1):c.841A>G (p.Lys281Glu) rs1437339620
NM_003664.5(AP3B1):c.86C>T (p.Ser29Phe)
NM_003664.5(AP3B1):c.878T>C (p.Met293Thr)
NM_003664.5(AP3B1):c.890A>G (p.His297Arg)
NM_003664.5(AP3B1):c.890A>T (p.His297Leu) rs1744369394
NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
NM_003664.5(AP3B1):c.908A>C (p.Asn303Thr) rs2112414100
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser) rs1456578906
NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
NM_003664.5(AP3B1):c.943G>A (p.Val315Met)
NM_003664.5(AP3B1):c.946G>A (p.Val316Ile) rs1744194052
NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
NM_003664.5(AP3B1):c.985A>G (p.Lys329Glu) rs2112405535
NM_003664.5(AP3B1):c.994G>T (p.Ala332Ser) rs2112405528
NM_012388.4(BLOC1S6):c.101C>G (p.Pro34Arg)
NM_012388.4(BLOC1S6):c.109G>C (p.Gly37Arg)
NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu) rs1893910592
NM_012388.4(BLOC1S6):c.120G>A (p.Glu40=)
NM_012388.4(BLOC1S6):c.14G>A (p.Gly5Glu) rs756977799
NM_012388.4(BLOC1S6):c.14G>T (p.Gly5Val) rs756977799
NM_012388.4(BLOC1S6):c.152A>G (p.Gln51Arg) rs1893913150
NM_012388.4(BLOC1S6):c.157G>A (p.Ala53Thr)
NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn) rs746059095
NM_012388.4(BLOC1S6):c.196A>G (p.Arg66Gly) rs1595552977
NM_012388.4(BLOC1S6):c.205C>G (p.Gln69Glu) rs775671194
NM_012388.4(BLOC1S6):c.225-14_225-13insA rs1894325968
NM_012388.4(BLOC1S6):c.257A>G (p.Glu86Gly) rs2140916217
NM_012388.4(BLOC1S6):c.25C>T (p.Pro9Ser) rs1442888203
NM_012388.4(BLOC1S6):c.269C>T (p.Ser90Leu) rs1894328541
NM_012388.4(BLOC1S6):c.286C>T (p.His96Tyr) rs1595559213
NM_012388.4(BLOC1S6):c.289T>C (p.Ser97Pro) rs1274935670
NM_012388.4(BLOC1S6):c.313-3A>T rs1366252583
NM_012388.4(BLOC1S6):c.330C>G (p.His110Gln) rs370118149
NM_012388.4(BLOC1S6):c.332A>G (p.Tyr111Cys)
NM_012388.4(BLOC1S6):c.350A>T (p.Asn117Ile) rs1230644464
NM_012388.4(BLOC1S6):c.358A>C (p.Lys120Gln) rs2140919031
NM_012388.4(BLOC1S6):c.359_360del (p.Lys120fs)
NM_012388.4(BLOC1S6):c.382A>C (p.Lys128Gln)
NM_012388.4(BLOC1S6):c.3G>A (p.Met1Ile) rs1242644356
NM_012388.4(BLOC1S6):c.433A>G (p.Lys145Glu) rs1894463062
NM_012388.4(BLOC1S6):c.434A>G (p.Lys145Arg) rs1894463182
NM_012388.4(BLOC1S6):c.43C>T (p.Arg15Trp) rs141581736
NM_012388.4(BLOC1S6):c.452A>T (p.Glu151Val)
NM_012388.4(BLOC1S6):c.461G>A (p.Arg154Gln) rs145937442
NM_012388.4(BLOC1S6):c.469G>A (p.Glu157Lys) rs1253763397
NM_012388.4(BLOC1S6):c.491dup (p.Leu164fs) rs1350528661
NM_012388.4(BLOC1S6):c.501A>T (p.Arg167Ser) rs775510569
NM_012388.4(BLOC1S6):c.503C>T (p.Pro168Leu)
NM_012388.4(BLOC1S6):c.68G>A (p.Gly23Glu)
NM_012388.4(BLOC1S6):c.82+17G>A
NM_012388.4(BLOC1S6):c.82+4C>G
NM_012388.4(BLOC1S6):c.82G>C (p.Gly28Arg)
NM_012388.4(BLOC1S6):c.88A>C (p.Ser30Arg)
NM_145167.3(PIGM):c.1001A>C (p.Gln334Pro) rs1648302230
NM_145167.3(PIGM):c.1042C>G (p.Pro348Ala) rs201082832
NM_145167.3(PIGM):c.1090T>C (p.Trp364Arg)
NM_145167.3(PIGM):c.1093T>G (p.Phe365Val)
NM_145167.3(PIGM):c.1100G>T (p.Gly367Val)
NM_145167.3(PIGM):c.1140del (p.Gln381fs)
NM_145167.3(PIGM):c.1148A>T (p.Lys383Met)
NM_145167.3(PIGM):c.114C>G (p.Phe38Leu)
NM_145167.3(PIGM):c.1159_1160del (p.Leu387fs)
NM_145167.3(PIGM):c.1193T>C (p.Leu398Pro)
NM_145167.3(PIGM):c.1217A>C (p.Gln406Pro)
NM_145167.3(PIGM):c.1254_1257del (p.Arg419fs) rs755366154
NM_145167.3(PIGM):c.1269C>G (p.Asp423Glu)
NM_145167.3(PIGM):c.130C>T (p.His44Tyr)
NM_145167.3(PIGM):c.148A>G (p.Ile50Val)
NM_145167.3(PIGM):c.160G>C (p.Val54Leu)
NM_145167.3(PIGM):c.224G>A (p.Arg75His)
NM_145167.3(PIGM):c.232C>T (p.Pro78Ser)
NM_145167.3(PIGM):c.23G>A (p.Gly8Asp)
NM_145167.3(PIGM):c.254C>G (p.Thr85Ser)
NM_145167.3(PIGM):c.303C>A (p.Ser101Arg)
NM_145167.3(PIGM):c.364C>T (p.Arg122Cys)
NM_145167.3(PIGM):c.41T>C (p.Leu14Ser)
NM_145167.3(PIGM):c.422C>A (p.Ser141Tyr)
NM_145167.3(PIGM):c.443C>G (p.Ser148Cys)
NM_145167.3(PIGM):c.444T>A (p.Ser148=)
NM_145167.3(PIGM):c.445A>G (p.Ile149Val)
NM_145167.3(PIGM):c.454T>G (p.Ser152Ala)
NM_145167.3(PIGM):c.457C>G (p.Leu153Val)
NM_145167.3(PIGM):c.458T>G (p.Leu153Arg)
NM_145167.3(PIGM):c.501G>T (p.Ala167=)
NM_145167.3(PIGM):c.518A>G (p.Tyr173Cys)
NM_145167.3(PIGM):c.538A>G (p.Lys180Glu)
NM_145167.3(PIGM):c.538A>T (p.Lys180Ter)
NM_145167.3(PIGM):c.592C>T (p.Arg198Cys)
NM_145167.3(PIGM):c.605A>G (p.Lys202Arg)
NM_145167.3(PIGM):c.608G>A (p.Ser203Asn)
NM_145167.3(PIGM):c.613C>A (p.Arg205Ser)
NM_145167.3(PIGM):c.613C>T (p.Arg205Cys)
NM_145167.3(PIGM):c.649G>A (p.Glu217Lys) rs536604932
NM_145167.3(PIGM):c.649G>C (p.Glu217Gln)
NM_145167.3(PIGM):c.686T>C (p.Leu229Pro)
NM_145167.3(PIGM):c.74C>A (p.Ala25Asp)
NM_145167.3(PIGM):c.805C>T (p.His269Tyr)
NM_145167.3(PIGM):c.836A>G (p.Tyr279Cys)
NM_145167.3(PIGM):c.863T>C (p.Phe288Ser)
NM_145167.3(PIGM):c.8C>T (p.Ser3Phe)
NM_145167.3(PIGM):c.95T>C (p.Leu32Pro)

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