ClinVar Miner

List of variants in gene A2ML1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 626
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373 0.00043
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr) rs184575465 0.00042
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala) rs374408168 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_144670.6(A2ML1):c.118T>G (p.Cys40Gly) rs933811492 0.00021
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys) rs367937691 0.00021
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys) rs750524549 0.00019
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu) rs201762847 0.00017
NM_144670.6(A2ML1):c.86C>A (p.Ala29Asp) rs202006422 0.00017
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser) rs753186530 0.00016
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile) rs368114048 0.00016
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser) rs780009431 0.00015
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) rs369180298 0.00014
NM_144670.6(A2ML1):c.2294C>T (p.Ala765Val) rs370203983 0.00014
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_144670.6(A2ML1):c.1945A>G (p.Met649Val) rs762406949 0.00012
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile) rs201752325 0.00012
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr) rs201363860 0.00011
NM_144670.6(A2ML1):c.4090A>G (p.Met1364Val) rs34274721 0.00011
NM_144670.6(A2ML1):c.2014T>C (p.Phe672Leu) rs376707182 0.00010
NM_144670.6(A2ML1):c.2834A>T (p.Tyr945Phe) rs375843284 0.00010
NM_144670.6(A2ML1):c.3713C>T (p.Thr1238Ile) rs368827993 0.00010
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His) rs200346409 0.00009
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg) rs201979319 0.00009
NM_144670.6(A2ML1):c.1081-1G>T rs754760292 0.00008
NM_144670.6(A2ML1):c.2420G>A (p.Arg807His) rs375671514 0.00008
NM_144670.6(A2ML1):c.3104C>A (p.Thr1035Lys) rs374091844 0.00008
NM_144670.6(A2ML1):c.3821G>A (p.Arg1274His) rs199517408 0.00008
NM_144670.6(A2ML1):c.1327C>T (p.Arg443Ter) rs550751327 0.00006
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu) rs373823890 0.00006
NM_144670.6(A2ML1):c.2231T>C (p.Ile744Thr) rs376655036 0.00006
NM_144670.6(A2ML1):c.2678G>A (p.Arg893Gln) rs780281065 0.00006
NM_144670.6(A2ML1):c.271G>A (p.Glu91Lys) rs771663545 0.00006
NM_144670.6(A2ML1):c.2848+4A>C rs375308468 0.00006
NM_144670.6(A2ML1):c.3819G>C (p.Gln1273His) rs201147872 0.00006
NM_144670.6(A2ML1):c.3820C>T (p.Arg1274Cys) rs370804670 0.00006
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys) rs199919065 0.00006
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met) rs202211381 0.00006
NM_144670.6(A2ML1):c.973G>A (p.Val325Met) rs749156731 0.00006
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His) rs372629661 0.00005
NM_144670.6(A2ML1):c.2125G>A (p.Gly709Ser) rs765592950 0.00005
NM_144670.6(A2ML1):c.2611A>C (p.Ser871Arg) rs375073450 0.00005
NM_144670.6(A2ML1):c.2848+1G>A rs768624782 0.00005
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met) rs755702632 0.00005
NM_144670.6(A2ML1):c.3002G>A (p.Arg1001Gln) rs768554605 0.00005
NM_144670.6(A2ML1):c.3017T>C (p.Leu1006Pro) rs748078710 0.00005
NM_144670.6(A2ML1):c.3235G>A (p.Val1079Met) rs376593636 0.00005
NM_144670.6(A2ML1):c.374A>G (p.Gln125Arg) rs776142486 0.00005
NM_144670.6(A2ML1):c.1081-2A>G rs377270924 0.00004
NM_144670.6(A2ML1):c.1142A>G (p.Tyr381Cys) rs867773372 0.00004
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser) rs758716034 0.00004
NM_144670.6(A2ML1):c.1476T>C (p.Tyr492=) rs759551673 0.00004
NM_144670.6(A2ML1):c.1703C>G (p.Pro568Arg) rs377555263 0.00004
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp) rs748309907 0.00004
NM_144670.6(A2ML1):c.2113A>G (p.Met705Val) rs373817400 0.00004
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile) rs769726608 0.00004
NM_144670.6(A2ML1):c.2416T>C (p.Phe806Leu) rs886043044 0.00004
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu) rs758305694 0.00004
NM_144670.6(A2ML1):c.2568G>A (p.Trp856Ter) rs375977821 0.00004
NM_144670.6(A2ML1):c.2670A>T (p.Gln890His) rs767309974 0.00004
NM_144670.6(A2ML1):c.2945T>C (p.Ile982Thr) rs759983928 0.00004
NM_144670.6(A2ML1):c.3085C>T (p.Arg1029Ter) rs546427345 0.00004
NM_144670.6(A2ML1):c.3145C>G (p.Gln1049Glu) rs368566164 0.00004
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val) rs753161669 0.00004
NM_144670.6(A2ML1):c.375G>T (p.Gln125His) rs377484849 0.00004
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met) rs201083574 0.00004
NM_144670.6(A2ML1):c.4180G>T (p.Val1394Phe) rs756796720 0.00004
NM_144670.6(A2ML1):c.650C>T (p.Pro217Leu) rs773797927 0.00004
NM_144670.6(A2ML1):c.815G>A (p.Arg272Gln) rs372782124 0.00004
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln) rs756640163 0.00004
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln) rs764536586 0.00003
NM_144670.6(A2ML1):c.1678A>G (p.Asn560Asp) rs764188902 0.00003
NM_144670.6(A2ML1):c.2379C>G (p.Asp793Glu) rs754179635 0.00003
NM_144670.6(A2ML1):c.2470A>G (p.Thr824Ala) rs969030959 0.00003
NM_144670.6(A2ML1):c.256C>T (p.Pro86Ser) rs766201825 0.00003
NM_144670.6(A2ML1):c.2669A>C (p.Gln890Pro) rs768785455 0.00003
NM_144670.6(A2ML1):c.3218G>A (p.Ser1073Asn) rs745334410 0.00003
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser) rs372562512 0.00003
NM_144670.6(A2ML1):c.346C>G (p.Gln116Glu) rs778697812 0.00003
NM_144670.6(A2ML1):c.3547G>A (p.Ala1183Thr) rs766181132 0.00003
NM_144670.6(A2ML1):c.4094C>T (p.Ala1365Val) rs765371747 0.00003
NM_144670.6(A2ML1):c.4222-3C>T rs776374407 0.00003
NM_144670.6(A2ML1):c.462G>A (p.Lys154=) rs762811758 0.00003
NM_144670.6(A2ML1):c.483+5G>A rs774337512 0.00003
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg) rs1253780933 0.00003
NM_144670.6(A2ML1):c.748A>C (p.Met250Leu) rs377672586 0.00003
NM_144670.6(A2ML1):c.913G>A (p.Gly305Arg) rs762795796 0.00003
NM_144670.6(A2ML1):c.920C>T (p.Ala307Val) rs189848036 0.00003
NM_144670.6(A2ML1):c.1081A>G (p.Ile361Val) rs1240129654 0.00002
NM_144670.6(A2ML1):c.1224G>C (p.Trp408Cys) rs372461898 0.00002
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn) rs368024371 0.00002
NM_144670.6(A2ML1):c.1802T>C (p.Leu601Pro) rs773062742 0.00002
NM_144670.6(A2ML1):c.1969C>T (p.Arg657Cys) rs1449723526 0.00002
NM_144670.6(A2ML1):c.2010C>A (p.Asp670Glu) rs763091079 0.00002
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp) rs772497821 0.00002
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr) rs771684169 0.00002
NM_144670.6(A2ML1):c.2188C>T (p.Arg730Cys) rs753349449 0.00002
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val) rs774472456 0.00002
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg) rs201288888 0.00002
NM_144670.6(A2ML1):c.2511G>C (p.Trp837Cys) rs746074032 0.00002
NM_144670.6(A2ML1):c.269C>T (p.Thr90Ile) rs369174815 0.00002
NM_144670.6(A2ML1):c.2822C>T (p.Ser941Leu) rs780461710 0.00002
NM_144670.6(A2ML1):c.3037G>T (p.Glu1013Ter) rs1228315173 0.00002
NM_144670.6(A2ML1):c.3136G>C (p.Gly1046Arg) rs374518651 0.00002
NM_144670.6(A2ML1):c.3265-3T>C rs977956433 0.00002
NM_144670.6(A2ML1):c.3353G>A (p.Ser1118Asn) rs1443570651 0.00002
NM_144670.6(A2ML1):c.3503-3T>C rs748270792 0.00002
NM_144670.6(A2ML1):c.3697G>A (p.Gly1233Arg) rs375981985 0.00002
NM_144670.6(A2ML1):c.3829A>G (p.Asn1277Asp) rs185559416 0.00002
NM_144670.6(A2ML1):c.3933+4A>G rs779680238 0.00002
NM_144670.6(A2ML1):c.3937G>A (p.Val1313Met) rs369047089 0.00002
NM_144670.6(A2ML1):c.4036T>A (p.Ser1346Thr) rs1441229879 0.00002
NM_144670.6(A2ML1):c.407A>G (p.Gln136Arg) rs759951446 0.00002
NM_144670.6(A2ML1):c.409+1G>A rs1454374124 0.00002
NM_144670.6(A2ML1):c.419G>A (p.Arg140His) rs768879801 0.00002
NM_144670.6(A2ML1):c.4361A>G (p.Glu1454Gly) rs374569843 0.00002
NM_144670.6(A2ML1):c.803G>A (p.Arg268Gln) rs767510479 0.00002
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val) rs775772721 0.00002
NM_144670.6(A2ML1):c.971-3C>T rs755855348 0.00002
NM_144670.6(A2ML1):c.*1+1G>A rs1057518179 0.00001
NM_144670.6(A2ML1):c.106G>A (p.Val36Ile) rs1242821843 0.00001
NM_144670.6(A2ML1):c.1091G>A (p.Arg364Lys) rs764961744 0.00001
NM_144670.6(A2ML1):c.1154G>T (p.Gly385Val) rs866399982 0.00001
NM_144670.6(A2ML1):c.115G>A (p.Val39Ile) rs1185024239 0.00001
NM_144670.6(A2ML1):c.1175T>C (p.Val392Ala) rs78584364 0.00001
NM_144670.6(A2ML1):c.1201T>C (p.Phe401Leu) rs769029517 0.00001
NM_144670.6(A2ML1):c.1231A>C (p.Thr411Pro) rs371576976 0.00001
NM_144670.6(A2ML1):c.1261A>T (p.Met421Leu) rs768501124 0.00001
NM_144670.6(A2ML1):c.1265A>G (p.Glu422Gly) rs369248688 0.00001
NM_144670.6(A2ML1):c.1283C>T (p.Pro428Leu) rs200670981 0.00001
NM_144670.6(A2ML1):c.128T>C (p.Leu43Pro) rs774360683 0.00001
NM_144670.6(A2ML1):c.1348C>T (p.Arg450Cys) rs772972879 0.00001
NM_144670.6(A2ML1):c.1370G>A (p.Arg457Gln) rs765417831 0.00001
NM_144670.6(A2ML1):c.139T>C (p.Tyr47His) rs374395580 0.00001
NM_144670.6(A2ML1):c.1405G>C (p.Glu469Gln) rs747823521 0.00001
NM_144670.6(A2ML1):c.1556C>G (p.Ser519Cys) rs202176589 0.00001
NM_144670.6(A2ML1):c.1683+6A>G rs370846070 0.00001
NM_144670.6(A2ML1):c.1718C>T (p.Pro573Leu) rs1432449630 0.00001
NM_144670.6(A2ML1):c.1778C>A (p.Ala593Glu) rs199779757 0.00001
NM_144670.6(A2ML1):c.1845G>A (p.Met615Ile) rs1256253601 0.00001
NM_144670.6(A2ML1):c.1874A>G (p.Tyr625Cys) rs759664362 0.00001
NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn) rs483352823 0.00001
NM_144670.6(A2ML1):c.1981T>C (p.Trp661Arg) rs777431100 0.00001
NM_144670.6(A2ML1):c.1988C>T (p.Pro663Leu) rs201653915 0.00001
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu) rs187676229 0.00001
NM_144670.6(A2ML1):c.1999G>C (p.Glu667Gln) rs200251270 0.00001
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met) rs745912214 0.00001
NM_144670.6(A2ML1):c.2051C>T (p.Ser684Phe) rs774848519 0.00001
NM_144670.6(A2ML1):c.2087A>T (p.His696Leu) rs1943823481 0.00001
NM_144670.6(A2ML1):c.2120-10A>G rs1043378879 0.00001
NM_144670.6(A2ML1):c.2120-2A>C rs201096838 0.00001
NM_144670.6(A2ML1):c.2126G>A (p.Gly709Asp) rs1943839450 0.00001
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly) rs770357451 0.00001
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys) rs369633399 0.00001
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp) rs778855832 0.00001
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe) rs1435627448 0.00001
NM_144670.6(A2ML1):c.2534G>A (p.Cys845Tyr) rs764660758 0.00001
NM_144670.6(A2ML1):c.2572A>G (p.Ile858Val) rs752399681 0.00001
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn) rs754026014 0.00001
NM_144670.6(A2ML1):c.2712+3G>C rs1943986611 0.00001
NM_144670.6(A2ML1):c.2809A>G (p.Ile937Val) rs866812216 0.00001
NM_144670.6(A2ML1):c.2827A>G (p.Lys943Glu) rs1060500994 0.00001
NM_144670.6(A2ML1):c.2854A>C (p.Ile952Leu) rs768513499 0.00001
NM_144670.6(A2ML1):c.2864C>T (p.Thr955Ile) rs761040296 0.00001
NM_144670.6(A2ML1):c.2884G>T (p.Gly962Cys) rs1302126744 0.00001
NM_144670.6(A2ML1):c.2885G>A (p.Gly962Asp) rs767222884 0.00001
NM_144670.6(A2ML1):c.2913C>T (p.Gly971=) rs778857180 0.00001
NM_144670.6(A2ML1):c.2914G>A (p.Glu972Lys) rs760545562 0.00001
NM_144670.6(A2ML1):c.292G>A (p.Val98Met) rs766855215 0.00001
NM_144670.6(A2ML1):c.2974G>C (p.Gly992Arg) rs1944100418 0.00001
NM_144670.6(A2ML1):c.2975G>A (p.Gly992Glu) rs1944100535 0.00001
NM_144670.6(A2ML1):c.3086G>A (p.Arg1029Gln) rs762232957 0.00001
NM_144670.6(A2ML1):c.3116C>T (p.Ala1039Val) rs769398333 0.00001
NM_144670.6(A2ML1):c.3161T>C (p.Ile1054Thr) rs371117844 0.00001
NM_144670.6(A2ML1):c.3200C>T (p.Ala1067Val) rs758909664 0.00001
NM_144670.6(A2ML1):c.3211C>T (p.Leu1071Phe) rs778176693 0.00001
NM_144670.6(A2ML1):c.3230C>T (p.Ala1077Val) rs964154627 0.00001
NM_144670.6(A2ML1):c.3245T>C (p.Leu1082Pro) rs767438012 0.00001
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe) rs371934378 0.00001
NM_144670.6(A2ML1):c.3264+5G>A rs200006435 0.00001
NM_144670.6(A2ML1):c.3266G>A (p.Gly1089Asp) rs1944235050 0.00001
NM_144670.6(A2ML1):c.3339T>G (p.Asp1113Glu) rs770954051 0.00001
NM_144670.6(A2ML1):c.335A>G (p.Lys112Arg) rs753721369 0.00001
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His) rs1466413438 0.00001
NM_144670.6(A2ML1):c.3427A>G (p.Ile1143Val) rs1469715388 0.00001
NM_144670.6(A2ML1):c.3475C>T (p.Gln1159Ter) rs199604768 0.00001
NM_144670.6(A2ML1):c.3523C>T (p.Gln1175Ter) rs1037613124 0.00001
NM_144670.6(A2ML1):c.361G>A (p.Gly121Ser) rs768048394 0.00001
NM_144670.6(A2ML1):c.3655A>G (p.Thr1219Ala) rs1565489972 0.00001
NM_144670.6(A2ML1):c.3665T>C (p.Val1222Ala) rs753369509 0.00001
NM_144670.6(A2ML1):c.3677C>A (p.Ala1226Asp) rs958481200 0.00001
NM_144670.6(A2ML1):c.3710C>T (p.Ser1237Phe) rs1181948169 0.00001
NM_144670.6(A2ML1):c.3936G>A (p.Thr1312=) rs375784426 0.00001
NM_144670.6(A2ML1):c.3961C>T (p.Pro1321Ser) rs777780229 0.00001
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg) rs1052149878 0.00001
NM_144670.6(A2ML1):c.4009A>G (p.Arg1337Gly) rs1435299149 0.00001
NM_144670.6(A2ML1):c.4070G>A (p.Gly1357Glu) rs771609901 0.00001
NM_144670.6(A2ML1):c.409+5G>A rs1429109147 0.00001
NM_144670.6(A2ML1):c.4097T>C (p.Ile1366Thr) rs886041924 0.00001
NM_144670.6(A2ML1):c.4142C>T (p.Thr1381Ile) rs1353787643 0.00001
NM_144670.6(A2ML1):c.4153-3C>T rs754964236 0.00001
NM_144670.6(A2ML1):c.4221+2T>C rs959378735 0.00001
NM_144670.6(A2ML1):c.4301A>G (p.Lys1434Arg) rs953122803 0.00001
NM_144670.6(A2ML1):c.4324+2T>C rs755555630 0.00001
NM_144670.6(A2ML1):c.4334C>A (p.Ala1445Glu) rs200447138 0.00001
NM_144670.6(A2ML1):c.466T>C (p.Ser156Pro) rs1943215133 0.00001
NM_144670.6(A2ML1):c.467C>T (p.Ser156Phe) rs755364579 0.00001
NM_144670.6(A2ML1):c.483+6C>T rs754169968 0.00001
NM_144670.6(A2ML1):c.532C>G (p.Gln178Glu) rs756460452 0.00001
NM_144670.6(A2ML1):c.680A>G (p.Lys227Arg) rs750612606 0.00001
NM_144670.6(A2ML1):c.724T>C (p.Cys242Arg) rs777559324 0.00001
NM_144670.6(A2ML1):c.73G>A (p.Val25Met) rs772906952 0.00001
NM_144670.6(A2ML1):c.791C>T (p.Thr264Ile) rs954197919 0.00001
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile) rs1482427203 0.00001
NM_144670.6(A2ML1):c.855+1G>A rs746496110 0.00001
NM_144670.6(A2ML1):c.943G>A (p.Val315Met) rs763486898 0.00001
NM_144670.6(A2ML1):c.964G>A (p.Gly322Arg) rs751287968 0.00001
NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter) rs1007463257 0.00001
GRCh37/hg19 12p13.31(chr12:8966269-8986611)x1
NC_000012.11:g.(?_8975248)_(8976498_?)del
NC_000012.11:g.(?_8975248)_(8991838_?)del
NC_000012.11:g.(?_8995710)_(9027607_?)dup
NC_000012.11:g.(?_9000125)_(9007447_?)del
NC_000012.12:g.(?_8822632)_(8875031_?)dup
NC_000012.12:g.(?_8857487)_(8861317_?)del
NC_000012.12:g.(?_8857497)_(8861307_?)del
NM_144670.6(A2ML1):c.1016T>C (p.Met339Thr) rs2136786935
NM_144670.6(A2ML1):c.1019G>T (p.Gly340Val)
NM_144670.6(A2ML1):c.1044C>G (p.Ser348Arg) rs1437069980
NM_144670.6(A2ML1):c.1057C>T (p.Pro353Ser)
NM_144670.6(A2ML1):c.1058C>T (p.Pro353Leu)
NM_144670.6(A2ML1):c.1068del (p.Phe357fs)
NM_144670.6(A2ML1):c.1082_1083insTTCTTT (p.Ile361_Arg362insSerLeu) rs1442165320
NM_144670.6(A2ML1):c.112_114del (p.Lys38del) rs774086428
NM_144670.6(A2ML1):c.1154G>A (p.Gly385Glu)
NM_144670.6(A2ML1):c.1163A>C (p.Asn388Thr)
NM_144670.6(A2ML1):c.1176del (p.Thr393fs) rs1943477947
NM_144670.6(A2ML1):c.1198C>T (p.Pro400Ser) rs2136803734
NM_144670.6(A2ML1):c.1205C>T (p.Thr402Ile) rs2136803780
NM_144670.6(A2ML1):c.1218del (p.Gly407fs) rs1555109581
NM_144670.6(A2ML1):c.1219G>A (p.Gly407Ser) rs921912575
NM_144670.6(A2ML1):c.1227T>A (p.Asn409Lys) rs1943480079
NM_144670.6(A2ML1):c.1228G>A (p.Gly410Arg)
NM_144670.6(A2ML1):c.1238T>A (p.Val413Asp)
NM_144670.6(A2ML1):c.1243C>G (p.Leu415Val)
NM_144670.6(A2ML1):c.1297C>T (p.Arg433Cys)
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His) rs376035211
NM_144670.6(A2ML1):c.1309A>G (p.Asn437Asp)
NM_144670.6(A2ML1):c.1313C>A (p.Ala438Asp) rs778105594
NM_144670.6(A2ML1):c.1313C>G (p.Ala438Gly) rs778105594
NM_144670.6(A2ML1):c.1345A>G (p.Thr449Ala) rs1943550917
NM_144670.6(A2ML1):c.1349G>A (p.Arg450His)
NM_144670.6(A2ML1):c.1357C>T (p.Leu453Phe)
NM_144670.6(A2ML1):c.1369C>T (p.Arg457Trp)
NM_144670.6(A2ML1):c.1377C>A (p.Asn459Lys)
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu) rs757200771
NM_144670.6(A2ML1):c.137G>T (p.Gly46Val) rs757200771
NM_144670.6(A2ML1):c.1391G>A (p.Cys464Tyr)
NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp) rs757576013
NM_144670.6(A2ML1):c.13C>G (p.Leu5Val) rs1419562889
NM_144670.6(A2ML1):c.1415T>C (p.Val472Ala)
NM_144670.6(A2ML1):c.141C>G (p.Tyr47Ter) rs778669722
NM_144670.6(A2ML1):c.1427T>A (p.Ile476Asn)
NM_144670.6(A2ML1):c.1429G>A (p.Asp477Asn) rs776595459
NM_144670.6(A2ML1):c.143G>C (p.Ser48Thr)
NM_144670.6(A2ML1):c.1471T>C (p.Tyr491His) rs1060500995
NM_144670.6(A2ML1):c.1476+1G>A
NM_144670.6(A2ML1):c.1476+1G>T
NM_144670.6(A2ML1):c.1478T>C (p.Leu493Ser) rs2136829726
NM_144670.6(A2ML1):c.1481T>C (p.Ile494Thr)
NM_144670.6(A2ML1):c.1487A>G (p.Lys496Arg) rs771450618
NM_144670.6(A2ML1):c.1526_1527insCTTA (p.Lys510fs)
NM_144670.6(A2ML1):c.1537+1G>A
NM_144670.6(A2ML1):c.1537+1G>T
NM_144670.6(A2ML1):c.1577C>G (p.Ser526Trp)
NM_144670.6(A2ML1):c.1577C>T (p.Ser526Leu)
NM_144670.6(A2ML1):c.1589del (p.Pro530fs) rs1943676133
NM_144670.6(A2ML1):c.158C>T (p.Thr53Met) rs79149293
NM_144670.6(A2ML1):c.1598C>A (p.Ser533Tyr)
NM_144670.6(A2ML1):c.1612_1616dup (p.Ile539fs) rs2136837411
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser) rs1032646451
NM_144670.6(A2ML1):c.1636del (p.Val545_Val546insTer)
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile) rs999028234
NM_144670.6(A2ML1):c.1664A>G (p.Glu555Gly)
NM_144670.6(A2ML1):c.1674T>G (p.Phe558Leu)
NM_144670.6(A2ML1):c.1679A>G (p.Asn560Ser)
NM_144670.6(A2ML1):c.1683+3A>G rs757399094
NM_144670.6(A2ML1):c.1684G>C (p.Val562Leu) rs750546906
NM_144670.6(A2ML1):c.169G>A (p.Glu57Lys)
NM_144670.6(A2ML1):c.1723G>T (p.Ala575Ser)
NM_144670.6(A2ML1):c.1726G>C (p.Glu576Gln)
NM_144670.6(A2ML1):c.1738C>T (p.Gln580Ter) rs1943737106
NM_144670.6(A2ML1):c.1742T>C (p.Leu581Pro)
NM_144670.6(A2ML1):c.1753C>T (p.Pro585Ser) rs773327464
NM_144670.6(A2ML1):c.1765T>C (p.Cys589Arg)
NM_144670.6(A2ML1):c.1769C>A (p.Ala590Glu)
NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val) rs770246364
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu) rs200673370
NM_144670.6(A2ML1):c.1777del (p.Ala593fs) rs758076462
NM_144670.6(A2ML1):c.1778C>T (p.Ala593Val) rs199779757
NM_144670.6(A2ML1):c.1781T>C (p.Val594Ala)
NM_144670.6(A2ML1):c.1784A>T (p.Asp595Val) rs1462968334
NM_144670.6(A2ML1):c.1788G>C (p.Glu596Asp) rs2136850485
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs) rs779516620
NM_144670.6(A2ML1):c.1805G>C (p.Arg602Thr)
NM_144670.6(A2ML1):c.1812C>G (p.Asp604Glu)
NM_144670.6(A2ML1):c.1816G>C (p.Glu606Gln)
NM_144670.6(A2ML1):c.1825A>C (p.Asn609His)
NM_144670.6(A2ML1):c.1826A>G (p.Asn609Ser)
NM_144670.6(A2ML1):c.1828C>T (p.Arg610Cys)
NM_144670.6(A2ML1):c.1829G>A (p.Arg610His)
NM_144670.6(A2ML1):c.1833+5G>A
NM_144670.6(A2ML1):c.1867T>G (p.Tyr623Asp)
NM_144670.6(A2ML1):c.1894C>T (p.Gln632Ter)
NM_144670.6(A2ML1):c.1917G>A (p.Trp639Ter) rs1362623763
NM_144670.6(A2ML1):c.1949C>G (p.Pro650Arg)
NM_144670.6(A2ML1):c.1961C>G (p.Ser654Trp)
NM_144670.6(A2ML1):c.1964G>C (p.Ser655Thr)
NM_144670.6(A2ML1):c.1969C>G (p.Arg657Gly) rs1449723526
NM_144670.6(A2ML1):c.1978A>T (p.Ile660Phe)
NM_144670.6(A2ML1):c.2009A>G (p.Asp670Gly)
NM_144670.6(A2ML1):c.2018G>A (p.Ser673Asn)
NM_144670.6(A2ML1):c.2018G>C (p.Ser673Thr)
NM_144670.6(A2ML1):c.2029-10T>A rs2136866469
NM_144670.6(A2ML1):c.2029-3C>G
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met) rs148198269
NM_144670.6(A2ML1):c.2063T>C (p.Ile688Thr)
NM_144670.6(A2ML1):c.2069A>C (p.Lys690Thr)
NM_144670.6(A2ML1):c.2082_2083inv (p.Ser695Gly)
NM_144670.6(A2ML1):c.2083A>C (p.Ser695Arg)
NM_144670.6(A2ML1):c.2084G>A (p.Ser695Asn)
NM_144670.6(A2ML1):c.2103C>G (p.Tyr701Ter) rs370270345
NM_144670.6(A2ML1):c.2120-21_2120-20delinsCG
NM_144670.6(A2ML1):c.2128G>A (p.Gly710Ser)
NM_144670.6(A2ML1):c.2129G>A (p.Gly710Asp)
NM_144670.6(A2ML1):c.2134C>G (p.Pro712Ala)
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) rs759217676
NM_144670.6(A2ML1):c.2149T>C (p.Ser717Pro)
NM_144670.6(A2ML1):c.2150C>G (p.Ser717Ter)
NM_144670.6(A2ML1):c.2152T>A (p.Ser718Thr)
NM_144670.6(A2ML1):c.2162T>A (p.Leu721Ter)
NM_144670.6(A2ML1):c.2180C>T (p.Ser727Phe)
NM_144670.6(A2ML1):c.218A>G (p.Lys73Arg)
NM_144670.6(A2ML1):c.2191C>T (p.Gln731Ter)
NM_144670.6(A2ML1):c.2210G>A (p.Trp737Ter) rs1943843858
NM_144670.6(A2ML1):c.2216G>T (p.Trp739Leu)
NM_144670.6(A2ML1):c.2217G>C (p.Trp739Cys)
NM_144670.6(A2ML1):c.2234+2del
NM_144670.6(A2ML1):c.2234+5G>T
NM_144670.6(A2ML1):c.2235-3C>T
NM_144670.6(A2ML1):c.223C>A (p.His75Asn)
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg) rs2136878186
NM_144670.6(A2ML1):c.2251G>A (p.Ala751Thr)
NM_144670.6(A2ML1):c.2274C>A (p.Asp758Glu) rs762980682
NM_144670.6(A2ML1):c.2284G>A (p.Glu762Lys) rs756409438
NM_144670.6(A2ML1):c.2300G>C (p.Ser767Thr) rs886042052
NM_144670.6(A2ML1):c.2306G>A (p.Cys769Tyr) rs1205001818
NM_144670.6(A2ML1):c.2314C>T (p.Gln772Ter)
NM_144670.6(A2ML1):c.2342C>T (p.Thr781Ile) rs1482681901
NM_144670.6(A2ML1):c.2373del (p.Phe791fs)
NM_144670.6(A2ML1):c.2401G>T (p.Val801Phe) rs1555113215
NM_144670.6(A2ML1):c.2405G>T (p.Arg802Leu) rs201562272
NM_144670.6(A2ML1):c.2419C>T (p.Arg807Cys)
NM_144670.6(A2ML1):c.2455T>G (p.Cys819Gly) rs1161488755
NM_144670.6(A2ML1):c.246+5G>A
NM_144670.6(A2ML1):c.2463G>T (p.Arg821Ser) rs1943910170
NM_144670.6(A2ML1):c.247-3C>G
NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs) rs863224951
NM_144670.6(A2ML1):c.2495A>G (p.Tyr832Cys)
NM_144670.6(A2ML1):c.2509T>C (p.Trp837Arg) rs1439490873
NM_144670.6(A2ML1):c.250C>G (p.Pro84Ala)
NM_144670.6(A2ML1):c.2519C>A (p.Ser840Tyr)
NM_144670.6(A2ML1):c.2521C>T (p.Gln841Ter) rs2136881581
NM_144670.6(A2ML1):c.2530del (p.Ser844fs) rs2136881657
NM_144670.6(A2ML1):c.257C>T (p.Pro86Leu)
NM_144670.6(A2ML1):c.2585A>T (p.Lys862Ile)
NM_144670.6(A2ML1):c.2590+1G>A
NM_144670.6(A2ML1):c.2591G>A (p.Gly864Asp) rs1943980987
NM_144670.6(A2ML1):c.2601C>G (p.Asn867Lys)
NM_144670.6(A2ML1):c.2608A>G (p.Ile870Val) rs1943981721
NM_144670.6(A2ML1):c.2615C>T (p.Thr872Ile)
NM_144670.6(A2ML1):c.2630_2633del (p.Ser877fs)
NM_144670.6(A2ML1):c.2641T>C (p.Cys881Arg) rs2136894115
NM_144670.6(A2ML1):c.2644G>C (p.Gly882Arg)
NM_144670.6(A2ML1):c.2645G>A (p.Gly882Glu)
NM_144670.6(A2ML1):c.2657G>T (p.Gly886Val) rs2136894252
NM_144670.6(A2ML1):c.2661dup (p.Val888fs) rs1171371768
NM_144670.6(A2ML1):c.2663T>A (p.Val888Asp)
NM_144670.6(A2ML1):c.2687C>T (p.Thr896Met)
NM_144670.6(A2ML1):c.26T>C (p.Met9Thr)
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile) rs1416944345
NM_144670.6(A2ML1):c.2712+3G>A
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs) rs560609581
NM_144670.6(A2ML1):c.2728G>A (p.Val910Met)
NM_144670.6(A2ML1):c.272AAG[1] (p.Glu92del)
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met) rs1944005605
NM_144670.6(A2ML1):c.2758C>G (p.Pro920Ala)
NM_144670.6(A2ML1):c.2764+1G>A
NM_144670.6(A2ML1):c.2764G>T (p.Gly922Ter)
NM_144670.6(A2ML1):c.2782T>C (p.Ser928Pro)
NM_144670.6(A2ML1):c.2796G>C (p.Glu932Asp)
NM_144670.6(A2ML1):c.2806G>A (p.Asp936Asn)
NM_144670.6(A2ML1):c.2815C>T (p.Pro939Ser) rs1944034959
NM_144670.6(A2ML1):c.2825C>A (p.Thr942Asn)
NM_144670.6(A2ML1):c.2834A>G (p.Tyr945Cys)
NM_144670.6(A2ML1):c.2849-10T>A rs774394683
NM_144670.6(A2ML1):c.2849G>A (p.Gly950Glu) rs267603716
NM_144670.6(A2ML1):c.2860G>T (p.Gly954Cys)
NM_144670.6(A2ML1):c.2866G>A (p.Ala956Thr)
NM_144670.6(A2ML1):c.2881G>A (p.Asp961Asn)
NM_144670.6(A2ML1):c.2884G>A (p.Gly962Ser)
NM_144670.6(A2ML1):c.2890G>A (p.Val964Met) rs1384506220
NM_144670.6(A2ML1):c.2893C>T (p.Gln965Ter)
NM_144670.6(A2ML1):c.2899C>G (p.Pro967Ala)
NM_144670.6(A2ML1):c.289C>T (p.Arg97Trp) rs199701571
NM_144670.6(A2ML1):c.2903G>A (p.Ser968Asn)
NM_144670.6(A2ML1):c.290G>A (p.Arg97Gln)
NM_144670.6(A2ML1):c.2911G>T (p.Gly971Cys)
NM_144670.6(A2ML1):c.292_294del (p.Val98del) rs2136697564
NM_144670.6(A2ML1):c.2939C>T (p.Pro980Leu) rs1944098763
NM_144670.6(A2ML1):c.2950G>A (p.Val984Ile) rs1353229912
NM_144670.6(A2ML1):c.2956C>T (p.Gln986Ter)
NM_144670.6(A2ML1):c.296C>T (p.Ser99Leu)
NM_144670.6(A2ML1):c.2986GAG[1] (p.Glu997del)
NM_144670.6(A2ML1):c.3005C>T (p.Ala1002Val) rs893125031
NM_144670.6(A2ML1):c.3025+3A>G
NM_144670.6(A2ML1):c.3026G>A (p.Gly1009Glu)
NM_144670.6(A2ML1):c.3058A>G (p.Asn1020Asp)
NM_144670.6(A2ML1):c.3070A>C (p.Ser1024Arg)
NM_144670.6(A2ML1):c.3074C>T (p.Ala1025Val)
NM_144670.6(A2ML1):c.3086G>C (p.Arg1029Pro) rs762232957
NM_144670.6(A2ML1):c.313A>G (p.Ile105Val)
NM_144670.6(A2ML1):c.3150del (p.Lys1050fs)
NM_144670.6(A2ML1):c.3153C>A (p.Phe1051Leu)
NM_144670.6(A2ML1):c.3172A>G (p.Asn1058Asp)
NM_144670.6(A2ML1):c.3203G>A (p.Gly1068Glu)
NM_144670.6(A2ML1):c.3220G>A (p.Gly1074Ser) rs2136918082
NM_144670.6(A2ML1):c.3223T>C (p.Cys1075Arg)
NM_144670.6(A2ML1):c.3233A>T (p.Asn1078Ile) rs769308270
NM_144670.6(A2ML1):c.3241A>G (p.Asn1081Asp)
NM_144670.6(A2ML1):c.3264+4C>T
NM_144670.6(A2ML1):c.3281A>G (p.Glu1094Gly) rs1944236208
NM_144670.6(A2ML1):c.3292A>G (p.Thr1098Ala) rs1944236841
NM_144670.6(A2ML1):c.3334G>A (p.Val1112Ile)
NM_144670.6(A2ML1):c.3337G>A (p.Asp1113Asn) rs2136930113
NM_144670.6(A2ML1):c.3340-3T>G
NM_144670.6(A2ML1):c.3346A>C (p.Met1116Leu) rs79889829
NM_144670.6(A2ML1):c.3346A>T (p.Met1116Leu)
NM_144670.6(A2ML1):c.3359G>A (p.Gly1120Asp)
NM_144670.6(A2ML1):c.3359G>T (p.Gly1120Val)
NM_144670.6(A2ML1):c.3386C>T (p.Thr1129Ile)
NM_144670.6(A2ML1):c.3398A>G (p.Asn1133Ser)
NM_144670.6(A2ML1):c.340C>G (p.Leu114Val)
NM_144670.6(A2ML1):c.3422C>G (p.Ala1141Gly)
NM_144670.6(A2ML1):c.3427_3430dup (p.Phe1144fs)
NM_144670.6(A2ML1):c.3430T>C (p.Phe1144Leu) rs1198962521
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
NM_144670.6(A2ML1):c.3439G>A (p.Ala1147Thr)
NM_144670.6(A2ML1):c.3454A>G (p.Ile1152Val)
NM_144670.6(A2ML1):c.3466C>T (p.Leu1156Phe)
NM_144670.6(A2ML1):c.3475_3476del (p.Gln1159fs) rs2136931820
NM_144670.6(A2ML1):c.3488A>T (p.Gln1163Leu) rs1944253824
NM_144670.6(A2ML1):c.3492_3495dup (p.Ile1166fs) rs1199328904
NM_144670.6(A2ML1):c.3497T>C (p.Ile1166Thr) rs2136932050
NM_144670.6(A2ML1):c.3502+5G>A
NM_144670.6(A2ML1):c.3503G>C (p.Gly1168Ala)
NM_144670.6(A2ML1):c.3509C>T (p.Ser1170Phe) rs1944348517
NM_144670.6(A2ML1):c.3511A>G (p.Ile1171Val)
NM_144670.6(A2ML1):c.3521G>T (p.Ser1174Ile)
NM_144670.6(A2ML1):c.3523C>A (p.Gln1175Lys)
NM_144670.6(A2ML1):c.3554C>G (p.Pro1185Arg) rs942636799
NM_144670.6(A2ML1):c.3559T>G (p.Ser1187Ala)
NM_144670.6(A2ML1):c.3603G>C (p.Leu1201Phe)
NM_144670.6(A2ML1):c.3612_3613delinsTATGCA (p.Gln1204fs) rs1565489901
NM_144670.6(A2ML1):c.3615_3617delinsAA (p.Lys1207fs) rs1944353833
NM_144670.6(A2ML1):c.3617_3618insAAAGCCCAGCCTAC (p.Thr1211fs) rs1944353833
NM_144670.6(A2ML1):c.3619A>G (p.Lys1207Glu)
NM_144670.6(A2ML1):c.3621G>C (p.Lys1207Asn)
NM_144670.6(A2ML1):c.3622C>T (p.Pro1208Ser) rs1944354265
NM_144670.6(A2ML1):c.3623C>G (p.Pro1208Arg)
NM_144670.6(A2ML1):c.3625A>C (p.Ser1209Arg)
NM_144670.6(A2ML1):c.3632_3633delinsAC (p.Thr1211Asn)
NM_144670.6(A2ML1):c.3646G>C (p.Ala1216Pro) rs1019595713
NM_144670.6(A2ML1):c.3668C>T (p.Ala1223Val)
NM_144670.6(A2ML1):c.3670T>C (p.Trp1224Arg) rs765103217
NM_144670.6(A2ML1):c.3673T>G (p.Leu1225Val)
NM_144670.6(A2ML1):c.3677C>G (p.Ala1226Gly) rs958481200
NM_144670.6(A2ML1):c.3682C>T (p.Gln1228Ter)
NM_144670.6(A2ML1):c.3685_3686inv (p.His1229Cys)
NM_144670.6(A2ML1):c.3689A>G (p.Asn1230Ser) rs1416042421
NM_144670.6(A2ML1):c.3695A>G (p.Tyr1232Cys)
NM_144670.6(A2ML1):c.3701del (p.Gly1234fs)
NM_144670.6(A2ML1):c.3717+3A>C
NM_144670.6(A2ML1):c.3718-2del rs2136956753
NM_144670.6(A2ML1):c.3725T>C (p.Val1242Ala)
NM_144670.6(A2ML1):c.3748A>T (p.Lys1250Ter) rs1403738657
NM_144670.6(A2ML1):c.3754G>A (p.Ala1252Thr)
NM_144670.6(A2ML1):c.3755C>T (p.Ala1252Val)
NM_144670.6(A2ML1):c.3757A>T (p.Thr1253Ser)
NM_144670.6(A2ML1):c.3775T>C (p.Ser1259Pro) rs1565492493
NM_144670.6(A2ML1):c.3776C>T (p.Ser1259Phe)
NM_144670.6(A2ML1):c.3778G>A (p.Glu1260Lys) rs2136957261
NM_144670.6(A2ML1):c.3797dup (p.Ser1268fs) rs1488712517
NM_144670.6(A2ML1):c.3830A>G (p.Asn1277Ser)
NM_144670.6(A2ML1):c.3832A>C (p.Ile1278Leu)
NM_144670.6(A2ML1):c.3833T>C (p.Ile1278Thr)
NM_144670.6(A2ML1):c.3837G>T (p.Gln1279His) rs1944476888
NM_144670.6(A2ML1):c.3853G>T (p.Val1285Leu)
NM_144670.6(A2ML1):c.3887G>C (p.Gly1296Ala) rs2136958139
NM_144670.6(A2ML1):c.3891G>A (p.Met1297Ile) rs754013433
NM_144670.6(A2ML1):c.389T>C (p.Leu130Pro) rs1942832495
NM_144670.6(A2ML1):c.3917G>T (p.Gly1306Val)
NM_144670.6(A2ML1):c.3919T>C (p.Cys1307Arg)
NM_144670.6(A2ML1):c.3926A>G (p.Tyr1309Cys) rs755582489
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr)
NM_144670.6(A2ML1):c.4003A>G (p.Lys1335Glu)
NM_144670.6(A2ML1):c.4010G>C (p.Arg1337Thr)
NM_144670.6(A2ML1):c.4022C>T (p.Pro1341Leu)
NM_144670.6(A2ML1):c.4033C>G (p.Arg1345Gly)
NM_144670.6(A2ML1):c.4049C>T (p.Thr1350Ile)
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_144670.6(A2ML1):c.4061+3G>A
NM_144670.6(A2ML1):c.4074C>G (p.Ser1358Arg) rs1229057255
NM_144670.6(A2ML1):c.4098dup (p.Val1367fs) rs1944509959
NM_144670.6(A2ML1):c.4113G>A (p.Met1371Ile) rs1592156688
NM_144670.6(A2ML1):c.411del (p.Tyr138fs)
NM_144670.6(A2ML1):c.4121G>A (p.Gly1374Glu) rs1057524238
NM_144670.6(A2ML1):c.4139G>T (p.Gly1380Val)
NM_144670.6(A2ML1):c.4145A>G (p.Asn1382Ser)
NM_144670.6(A2ML1):c.4171G>A (p.Val1391Met)
NM_144670.6(A2ML1):c.4183G>A (p.Glu1395Lys)
NM_144670.6(A2ML1):c.4183G>T (p.Glu1395Ter)
NM_144670.6(A2ML1):c.4218T>A (p.Asp1406Glu)
NM_144670.6(A2ML1):c.4221+2dup
NM_144670.6(A2ML1):c.4221+6T>G
NM_144670.6(A2ML1):c.4267_4274del (p.Val1423fs) rs2136995495
NM_144670.6(A2ML1):c.4277C>A (p.Thr1426Asn)
NM_144670.6(A2ML1):c.4309G>A (p.Asp1437Asn)
NM_144670.6(A2ML1):c.4312T>C (p.Tyr1438His)
NM_144670.6(A2ML1):c.431T>C (p.Met144Thr)
NM_144670.6(A2ML1):c.4325A>G (p.Asp1442Gly) rs1944755198
NM_144670.6(A2ML1):c.4332G>C (p.Gln1444His)
NM_144670.6(A2ML1):c.4339A>T (p.Ile1447Phe) rs1201862429
NM_144670.6(A2ML1):c.4358G>A (p.Cys1453Tyr)
NM_144670.6(A2ML1):c.460A>G (p.Lys154Glu) rs1943050288
NM_144670.6(A2ML1):c.462+1G>T
NM_144670.6(A2ML1):c.462+2T>C rs201877710
NM_144670.6(A2ML1):c.462+6T>C rs926197497
NM_144670.6(A2ML1):c.463-2A>C
NM_144670.6(A2ML1):c.463-2A>G rs1410846189
NM_144670.6(A2ML1):c.470T>C (p.Met157Thr)
NM_144670.6(A2ML1):c.474G>A (p.Val158=) rs1016762458
NM_144670.6(A2ML1):c.481C>G (p.Gln161Glu) rs1412258468
NM_144670.6(A2ML1):c.490A>T (p.Asn164Tyr) rs1943242316
NM_144670.6(A2ML1):c.492T>C (p.Asn164=)
NM_144670.6(A2ML1):c.494G>A (p.Ser165Asn) rs962354900
NM_144670.6(A2ML1):c.504T>A (p.Ile168=)
NM_144670.6(A2ML1):c.508C>T (p.Gln170Ter)
NM_144670.6(A2ML1):c.50C>A (p.Ala17Glu) rs1391269221
NM_144670.6(A2ML1):c.512G>A (p.Trp171Ter)
NM_144670.6(A2ML1):c.52GAA[1] (p.Glu19del)
NM_144670.6(A2ML1):c.539T>C (p.Ile180Thr)
NM_144670.6(A2ML1):c.576G>C (p.Met192Ile) rs2136761632
NM_144670.6(A2ML1):c.581G>A (p.Gly194Asp)
NM_144670.6(A2ML1):c.601G>T (p.Ala201Ser)
NM_144670.6(A2ML1):c.614C>T (p.Thr205Ile) rs1478678570
NM_144670.6(A2ML1):c.61C>A (p.Pro21Thr)
NM_144670.6(A2ML1):c.62+1G>A
NM_144670.6(A2ML1):c.62+1G>C rs200764174
NM_144670.6(A2ML1):c.623C>T (p.Thr208Ile)
NM_144670.6(A2ML1):c.630T>G (p.Ser210Arg) rs1565466561
NM_144670.6(A2ML1):c.634G>T (p.Glu212Ter)
NM_144670.6(A2ML1):c.635A>G (p.Glu212Gly)
NM_144670.6(A2ML1):c.644-2A>T
NM_144670.6(A2ML1):c.658A>G (p.Lys220Glu) rs201550299
NM_144670.6(A2ML1):c.679A>G (p.Lys227Glu)
NM_144670.6(A2ML1):c.68dup (p.Tyr23Ter)
NM_144670.6(A2ML1):c.697C>T (p.Gln233Ter)
NM_144670.6(A2ML1):c.69C>G (p.Tyr23Ter)
NM_144670.6(A2ML1):c.70C>G (p.Leu24Val) rs1185230247
NM_144670.6(A2ML1):c.729G>T (p.Arg243Ser)
NM_144670.6(A2ML1):c.737A>G (p.Tyr246Cys)
NM_144670.6(A2ML1):c.743A>G (p.Lys248Arg)
NM_144670.6(A2ML1):c.744G>C (p.Lys248Asn)
NM_144670.6(A2ML1):c.746C>G (p.Pro249Arg) rs2136774349
NM_144670.6(A2ML1):c.74T>C (p.Val25Ala)
NM_144670.6(A2ML1):c.755G>A (p.Gly252Glu) rs1943320436
NM_144670.6(A2ML1):c.764A>C (p.Gln255Pro)
NM_144670.6(A2ML1):c.772G>C (p.Val258Leu) rs1943321535
NM_144670.6(A2ML1):c.776_777del (p.Cys259fs) rs1592114348
NM_144670.6(A2ML1):c.784G>A (p.Ala262Thr)
NM_144670.6(A2ML1):c.787A>C (p.Asn263His) rs886041510
NM_144670.6(A2ML1):c.792_793del (p.Tyr265fs)
NM_144670.6(A2ML1):c.796T>C (p.Trp266Arg) rs1943322710
NM_144670.6(A2ML1):c.797G>A (p.Trp266Ter) rs2136774929
NM_144670.6(A2ML1):c.798G>A (p.Trp266Ter) rs1352276762
NM_144670.6(A2ML1):c.802C>G (p.Arg268Gly)
NM_144670.6(A2ML1):c.802C>T (p.Arg268Ter)
NM_144670.6(A2ML1):c.844C>T (p.Leu282Phe)
NM_144670.6(A2ML1):c.860A>G (p.Asp287Gly)
NM_144670.6(A2ML1):c.868G>A (p.Gly290Arg) rs2136781223
NM_144670.6(A2ML1):c.868G>C (p.Gly290Arg)
NM_144670.6(A2ML1):c.88C>T (p.Arg30Trp)
NM_144670.6(A2ML1):c.892A>T (p.Met298Leu)
NM_144670.6(A2ML1):c.899C>T (p.Thr300Ile)
NM_144670.6(A2ML1):c.902T>C (p.Phe301Ser)
NM_144670.6(A2ML1):c.904G>A (p.Asp302Asn)
NM_144670.6(A2ML1):c.918T>A (p.Tyr306Ter) rs2136782038
NM_144670.6(A2ML1):c.931C>G (p.Gln311Glu) rs1440325153
NM_144670.6(A2ML1):c.941T>C (p.Ile314Thr)
NM_144670.6(A2ML1):c.957G>A (p.Val319=) rs1943357879
NM_144670.6(A2ML1):c.964G>C (p.Gly322Arg)
NM_144670.6(A2ML1):c.965G>A (p.Gly322Glu) rs1943358225
NM_144670.6(A2ML1):c.967A>T (p.Thr323Ser)
NM_144670.6(A2ML1):c.970G>T (p.Gly324Cys) rs1943358684
NM_144670.6(A2ML1):c.971-2A>G rs2136786580
NM_144670.6(A2ML1):c.971G>A (p.Gly324Asp)
NM_144670.6(A2ML1):c.976G>A (p.Glu326Lys)
NM_144670.6(A2ML1):c.977A>G (p.Glu326Gly)
NM_144670.6(A2ML1):c.97T>C (p.Phe33Leu)
NM_144670.6(A2ML1):c.97T>G (p.Phe33Val)
NM_144670.6(A2ML1):c.983A>G (p.Asn328Ser)
NM_144670.6(A2ML1):c.993G>C (p.Gln331His)

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