ClinVar Miner

List of variants in gene A2ML1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 596
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_144670.6(A2ML1):c.1538-212_1538-208del rs1565475723 0.01889
NM_144670.6(A2ML1):c.1834-202G>A rs7138661 0.01661
NM_144670.6(A2ML1):c.1538-198del rs1565475803 0.01532
NM_144670.6(A2ML1):c.2234+199T>C rs7957548 0.01327
NM_144670.6(A2ML1):c.4222-318C>T rs139876021 0.01214
NM_144670.6(A2ML1):c.462+139G>A rs75265748 0.01209
NM_144670.6(A2ML1):c.2848+40G>T rs79250113 0.01068
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val) rs61741216 0.00991
NM_144670.6(A2ML1):c.590C>T (p.Thr197Ile) rs61734941 0.00911
NM_144670.6(A2ML1):c.1684-315C>G rs763985998 0.00900
NM_144670.6(A2ML1):c.1538-208_1538-188del rs745849727 0.00838
NM_144670.6(A2ML1):c.462+190G>A rs186047245 0.00803
NM_144670.6(A2ML1):c.246+139A>G rs79649806 0.00796
NM_144670.6(A2ML1):c.4061+80T>G rs79855890 0.00787
NM_144670.6(A2ML1):c.2590+116T>C rs112238175 0.00762
NM_144670.6(A2ML1):c.1538-193del rs376508255 0.00735
NM_144670.6(A2ML1):c.643+189T>A rs142881050 0.00694
NM_144670.6(A2ML1):c.484-179A>T rs73037002 0.00685
NM_144670.6(A2ML1):c.484-181T>C rs73037001 0.00643
NM_144670.6(A2ML1):c.1538-193_1538-188del rs1565475837 0.00637
NM_144670.6(A2ML1):c.644-206G>T rs73038703 0.00619
NM_144670.6(A2ML1):c.246+149A>G rs141691361 0.00585
NM_144670.6(A2ML1):c.1249-305A>C rs146519959 0.00578
NM_144670.6(A2ML1):c.2765-299G>T rs113636807 0.00570
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) rs61746590 0.00552
NM_144670.6(A2ML1):c.855+212G>T rs111993047 0.00526
NM_144670.6(A2ML1):c.728+206G>A rs113230784 0.00522
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_144670.6(A2ML1):c.2119+56T>C rs115248347 0.00441
NM_144670.6(A2ML1):c.2849-162T>C rs183422479 0.00431
NM_144670.6(A2ML1):c.*1+12G>A rs115808815 0.00398
NM_144670.6(A2ML1):c.644-286C>T rs149343106 0.00367
NM_144670.6(A2ML1):c.4222-348G>A rs184491762 0.00362
NM_144670.6(A2ML1):c.462+131G>A rs112267835 0.00360
NM_144670.6(A2ML1):c.462+29G>A rs141350563 0.00360
NM_144670.6(A2ML1):c.1080+143A>G rs148648085 0.00337
NM_144670.6(A2ML1):c.1248+29A>T rs139302523 0.00334
NC_000012.12:g.8822235C>T rs141688347 0.00281
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) rs201247776 0.00256
NM_144670.6(A2ML1):c.1538-208T>A rs781212837 0.00230
NM_144670.6(A2ML1):c.2029-5A>C rs145965024 0.00216
NM_144670.6(A2ML1):c.621T>C (p.Gly207=) rs145494834 0.00210
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_144670.6(A2ML1):c.855+34G>A rs113013902 0.00177
NM_144670.6(A2ML1):c.9T>A (p.Ala3=) rs151044194 0.00177
NM_144670.6(A2ML1):c.196C>T (p.Leu66=) rs185519272 0.00172
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553 0.00158
NM_144670.6(A2ML1):c.2590+24G>A rs183811321 0.00146
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp) rs77431272 0.00138
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr) rs200763256 0.00126
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys) rs192221816 0.00123
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) rs200618482 0.00080
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353 0.00080
NM_144670.6(A2ML1):c.2027G>A (p.Arg676Gln) rs138301233 0.00070
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) rs201478459 0.00061
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr) rs202179061 0.00056
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_144670.6(A2ML1):c.2029-8C>T rs7298954 0.00048
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile) rs185181365 0.00047
NM_144670.6(A2ML1):c.105C>T (p.Ser35=) rs201185025 0.00046
NM_144670.6(A2ML1):c.2120-36T>C rs201335724 0.00046
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=) rs200462659 0.00044
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.3003G>A (p.Arg1001=) rs200269317 0.00041
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His) rs200744656 0.00041
NM_144670.6(A2ML1):c.2862C>G (p.Gly954=) rs535988756 0.00039
NM_144670.6(A2ML1):c.3869C>A (p.Thr1290Asn) rs199584108 0.00039
NM_144670.6(A2ML1):c.1780G>A (p.Val594Met) rs201527641 0.00038
NM_144670.6(A2ML1):c.1477-251A>G rs574103510 0.00036
NM_144670.6(A2ML1):c.357G>C (p.Gly119=) rs200671971 0.00036
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=) rs371033800 0.00036
NM_144670.6(A2ML1):c.63-4A>G rs200007710 0.00036
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=) rs201562692 0.00029
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=) rs146213855 0.00028
NM_144670.6(A2ML1):c.2320A>G (p.Arg774Gly) rs552497055 0.00028
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp) rs200503836 0.00026
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala) rs374408168 0.00026
NM_144670.6(A2ML1):c.712G>A (p.Val238Ile) rs200465216 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_144670.6(A2ML1):c.728+13G>A rs373095814 0.00025
NM_144670.6(A2ML1):c.4056C>T (p.His1352=) rs377520682 0.00024
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys) rs182743597 0.00023
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln) rs142219499 0.00022
NM_144670.6(A2ML1):c.221G>C (p.Arg74Thr) rs77657214 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.693G>A (p.Thr231=) rs199682918 0.00019
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala) rs192888493 0.00019
NM_144670.6(A2ML1):c.1368C>T (p.His456=) rs200983183 0.00018
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu) rs201762847 0.00017
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser) rs753186530 0.00016
NM_144670.6(A2ML1):c.2625G>T (p.Leu875=) rs375033681 0.00016
NM_144670.6(A2ML1):c.3096T>C (p.Asn1032=) rs760050266 0.00016
NM_144670.6(A2ML1):c.3395C>T (p.Thr1132Ile) rs201093464 0.00015
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) rs369180298 0.00014
NM_144670.6(A2ML1):c.277G>T (p.Val93Leu) rs775011475 0.00014
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_144670.6(A2ML1):c.2840C>T (p.Thr947Met) rs199873022 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.2484A>G (p.Lys828=) rs375644283 0.00012
NM_144670.6(A2ML1):c.3503-9T>A rs185487647 0.00012
NM_144670.6(A2ML1):c.1236C>T (p.Asp412=) rs375780803 0.00011
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr) rs201363860 0.00011
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472 0.00010
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_144670.6(A2ML1):c.3657T>C (p.Thr1219=) rs369641177 0.00009
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter) rs182070540 0.00009
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg) rs201979319 0.00009
NM_144670.6(A2ML1):c.855+9A>G rs200524501 0.00009
NM_144670.6(A2ML1):c.1248+12C>T rs370769861 0.00008
NM_144670.6(A2ML1):c.1377C>T (p.Asn459=) rs374233026 0.00008
NM_144670.6(A2ML1):c.2328C>T (p.Phe776=) rs368663740 0.00008
NM_144670.6(A2ML1):c.3821G>A (p.Arg1274His) rs199517408 0.00008
NM_144670.6(A2ML1):c.921G>A (p.Ala307=) rs372520121 0.00008
NM_144670.6(A2ML1):c.1477-13T>C rs778863549 0.00007
NM_144670.6(A2ML1):c.3648G>A (p.Ala1216=) rs376574474 0.00007
NM_144670.6(A2ML1):c.1284G>A (p.Pro428=) rs753945399 0.00006
NM_144670.6(A2ML1):c.1746G>A (p.Gln582=) rs767420128 0.00006
NM_144670.6(A2ML1):c.1770G>A (p.Ala590=) rs373656984 0.00006
NM_144670.6(A2ML1):c.2241G>A (p.Ser747=) rs770762334 0.00006
NM_144670.6(A2ML1):c.2274C>T (p.Asp758=) rs762980682 0.00006
NM_144670.6(A2ML1):c.2441A>G (p.Asn814Ser) rs760788803 0.00006
NM_144670.6(A2ML1):c.2678G>A (p.Arg893Gln) rs780281065 0.00006
NM_144670.6(A2ML1):c.2985G>A (p.Thr995=) rs773450242 0.00006
NM_144670.6(A2ML1):c.3234C>T (p.Asn1078=) rs764790159 0.00006
NM_144670.6(A2ML1):c.3502+10T>C rs771296293 0.00006
NM_144670.6(A2ML1):c.3502+16T>G rs763693577 0.00006
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=) rs747281942 0.00006
NM_144670.6(A2ML1):c.4061+11_4061+12del rs767089812 0.00006
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys) rs199919065 0.00006
NM_144670.6(A2ML1):c.528T>C (p.Pro176=) rs770938725 0.00006
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met) rs202211381 0.00006
NM_144670.6(A2ML1):c.971-8C>T rs780868782 0.00006
NM_144670.6(A2ML1):c.973G>A (p.Val325Met) rs749156731 0.00006
NM_144670.6(A2ML1):c.201A>G (p.Glu67=) rs371564965 0.00005
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met) rs755702632 0.00005
NM_144670.6(A2ML1):c.1218C>T (p.Ser406=) rs747023059 0.00004
NM_144670.6(A2ML1):c.1287A>G (p.Glu429=) rs755195178 0.00004
NM_144670.6(A2ML1):c.1440T>C (p.Asp480=) rs764291805 0.00004
NM_144670.6(A2ML1):c.1476+15C>T rs759159005 0.00004
NM_144670.6(A2ML1):c.2114T>C (p.Met705Thr) rs748085779 0.00004
NM_144670.6(A2ML1):c.2259C>T (p.His753=) rs747555996 0.00004
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile) rs769726608 0.00004
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu) rs758305694 0.00004
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val) rs753161669 0.00004
NM_144670.6(A2ML1):c.3503-11T>C rs949065571 0.00004
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met) rs201083574 0.00004
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu) rs190379856 0.00004
NM_144670.6(A2ML1):c.3965C>A (p.Thr1322Lys) rs768728955 0.00004
NM_144670.6(A2ML1):c.4062-8G>C rs773509061 0.00004
NM_144670.6(A2ML1):c.4325-9A>C rs1055879090 0.00004
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln) rs756640163 0.00004
NM_144670.6(A2ML1):c.1280A>G (p.Asn427Ser) rs537292419 0.00003
NM_144670.6(A2ML1):c.1833+10T>C rs753086817 0.00003
NM_144670.6(A2ML1):c.1834-12C>A rs771794782 0.00003
NM_144670.6(A2ML1):c.1869C>T (p.Tyr623=) rs1332088491 0.00003
NM_144670.6(A2ML1):c.2120-14C>T rs1428282921 0.00003
NM_144670.6(A2ML1):c.21A>G (p.Leu7=) rs529431349 0.00003
NM_144670.6(A2ML1):c.2487G>A (p.Ser829=) rs747051668 0.00003
NM_144670.6(A2ML1):c.2658G>A (p.Gly886=) rs762588799 0.00003
NM_144670.6(A2ML1):c.2669A>C (p.Gln890Pro) rs768785455 0.00003
NM_144670.6(A2ML1):c.2706C>T (p.Leu902=) rs775309165 0.00003
NM_144670.6(A2ML1):c.3108-6A>G rs772515643 0.00003
NM_144670.6(A2ML1):c.3339+20G>A rs758617412 0.00003
NM_144670.6(A2ML1):c.3384C>G (p.Ala1128=) rs773681065 0.00003
NM_144670.6(A2ML1):c.1041C>T (p.Thr347=) rs760996560 0.00002
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn) rs368024371 0.00002
NM_144670.6(A2ML1):c.1477-299G>T rs143808943 0.00002
NM_144670.6(A2ML1):c.1538-6T>C rs1444764339 0.00002
NM_144670.6(A2ML1):c.2007G>A (p.Thr669=) rs201446135 0.00002
NM_144670.6(A2ML1):c.216G>A (p.Lys72=) rs747225412 0.00002
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr) rs771684169 0.00002
NM_144670.6(A2ML1):c.2232T>C (p.Ile744=) rs961372102 0.00002
NM_144670.6(A2ML1):c.2310T>C (p.Thr770=) rs370481255 0.00002
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=) rs201335448 0.00002
NM_144670.6(A2ML1):c.3503-3T>C rs748270792 0.00002
NM_144670.6(A2ML1):c.3564G>A (p.Glu1188=) rs1039987688 0.00002
NM_144670.6(A2ML1):c.3576A>G (p.Val1192=) rs771118520 0.00002
NM_144670.6(A2ML1):c.3685C>T (p.His1229Tyr) rs764222230 0.00002
NM_144670.6(A2ML1):c.3933+4A>G rs779680238 0.00002
NM_144670.6(A2ML1):c.3993G>A (p.Val1331=) rs762194080 0.00002
NM_144670.6(A2ML1):c.4023G>A (p.Pro1341=) rs751414888 0.00002
NM_144670.6(A2ML1):c.644-5T>C rs769537819 0.00002
NM_144670.6(A2ML1):c.856-19T>C rs117140170 0.00002
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val) rs775772721 0.00002
NM_144670.6(A2ML1):c.972T>G (p.Gly324=) rs779838500 0.00002
NM_144670.6(A2ML1):c.1047T>C (p.Asn349=) rs1248117477 0.00001
NM_144670.6(A2ML1):c.1068C>T (p.Pro356=) rs1290413093 0.00001
NM_144670.6(A2ML1):c.1081-19A>G rs766986325 0.00001
NM_144670.6(A2ML1):c.1248+7A>G rs765019682 0.00001
NM_144670.6(A2ML1):c.1249-35C>T rs370213211 0.00001
NM_144670.6(A2ML1):c.1251A>G (p.Gly417=) rs1449298217 0.00001
NM_144670.6(A2ML1):c.1395C>G (p.Gly465=) rs1943552986 0.00001
NM_144670.6(A2ML1):c.1428C>T (p.Ile476=) rs770884018 0.00001
NM_144670.6(A2ML1):c.1437C>T (p.Ala479=) rs1395985225 0.00001
NM_144670.6(A2ML1):c.1538-13T>A rs765050311 0.00001
NM_144670.6(A2ML1):c.1538-7C>G rs377064864 0.00001
NM_144670.6(A2ML1):c.1575T>C (p.Thr525=) rs369031167 0.00001
NM_144670.6(A2ML1):c.1677C>T (p.Asp559=) rs762982600 0.00001
NM_144670.6(A2ML1):c.1683+6A>G rs370846070 0.00001
NM_144670.6(A2ML1):c.1684-10C>T rs369357941 0.00001
NM_144670.6(A2ML1):c.1704C>G (p.Pro568=) rs780752277 0.00001
NM_144670.6(A2ML1):c.1755C>T (p.Pro585=) rs760716902 0.00001
NM_144670.6(A2ML1):c.1812C>T (p.Asp604=) rs1182071876 0.00001
NM_144670.6(A2ML1):c.1881G>T (p.Val627=) rs371987177 0.00001
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met) rs745912214 0.00001
NM_144670.6(A2ML1):c.2103C>T (p.Tyr701=) rs370270345 0.00001
NM_144670.6(A2ML1):c.2119+9C>T rs1428382436 0.00001
NM_144670.6(A2ML1):c.2133T>C (p.His711=) rs778103992 0.00001
NM_144670.6(A2ML1):c.2142T>C (p.Ala714=) rs781494872 0.00001
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly) rs770357451 0.00001
NM_144670.6(A2ML1):c.2253G>A (p.Ala751=) rs375611706 0.00001
NM_144670.6(A2ML1):c.231T>C (p.His77=) rs781346154 0.00001
NM_144670.6(A2ML1):c.2409G>A (p.Gly803=) rs367617839 0.00001
NM_144670.6(A2ML1):c.2451G>A (p.Lys817=) rs1320170708 0.00001
NM_144670.6(A2ML1):c.2464-4G>A rs200188816 0.00001
NM_144670.6(A2ML1):c.2469G>A (p.Gln823=) rs754731948 0.00001
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=) rs188045880 0.00001
NM_144670.6(A2ML1):c.2712+12T>A rs774960083 0.00001
NM_144670.6(A2ML1):c.2713-4G>A rs374927933 0.00001
NM_144670.6(A2ML1):c.2765-16T>C rs769910451 0.00001
NM_144670.6(A2ML1):c.2765-7C>G rs775617268 0.00001
NM_144670.6(A2ML1):c.2809A>G (p.Ile937Val) rs866812216 0.00001
NM_144670.6(A2ML1):c.2820C>T (p.Asp940=) rs1467804846 0.00001
NM_144670.6(A2ML1):c.2849-10T>C rs774394683 0.00001
NM_144670.6(A2ML1):c.288C>A (p.Ile96=) rs929958326 0.00001
NM_144670.6(A2ML1):c.2900C>T (p.Pro967Leu) rs202194008 0.00001
NM_144670.6(A2ML1):c.2916G>A (p.Glu972=) rs1013263641 0.00001
NM_144670.6(A2ML1):c.2976G>T (p.Gly992=) rs1944100639 0.00001
NM_144670.6(A2ML1):c.297G>A (p.Ser99=) rs759863656 0.00001
NM_144670.6(A2ML1):c.3042G>A (p.Leu1014=) rs757380603 0.00001
NM_144670.6(A2ML1):c.3108-8C>T rs748688899 0.00001
NM_144670.6(A2ML1):c.3117G>A (p.Ala1039=) rs370178808 0.00001
NM_144670.6(A2ML1):c.3228T>C (p.Tyr1076=) rs1361524724 0.00001
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe) rs371934378 0.00001
NM_144670.6(A2ML1):c.3340-14T>C rs757329653 0.00001
NM_144670.6(A2ML1):c.3418T>C (p.Leu1140=) rs1243472626 0.00001
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) rs868320081 0.00001
NM_144670.6(A2ML1):c.3546C>T (p.Asn1182=) rs760309585 0.00001
NM_144670.6(A2ML1):c.3600A>G (p.Ala1200=) rs1239405353 0.00001
NM_144670.6(A2ML1):c.3718-10T>A rs1352265434 0.00001
NM_144670.6(A2ML1):c.3897G>A (p.Thr1299=) rs1057523927 0.00001
NM_144670.6(A2ML1):c.3933+14C>T rs200874703 0.00001
NM_144670.6(A2ML1):c.3936G>A (p.Thr1312=) rs375784426 0.00001
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg) rs1052149878 0.00001
NM_144670.6(A2ML1):c.4025C>T (p.Thr1342Ile) rs753841404 0.00001
NM_144670.6(A2ML1):c.4038C>T (p.Ser1346=) rs780163283 0.00001
NM_144670.6(A2ML1):c.4061+16G>T rs200962359 0.00001
NM_144670.6(A2ML1):c.409+12A>G rs1304092038 0.00001
NM_144670.6(A2ML1):c.4158C>G (p.Leu1386=) rs752763294 0.00001
NM_144670.6(A2ML1):c.4221+17C>T rs772852256 0.00001
NM_144670.6(A2ML1):c.4278C>T (p.Thr1426=) rs764258507 0.00001
NM_144670.6(A2ML1):c.444C>T (p.Phe148=) rs914336844 0.00001
NM_144670.6(A2ML1):c.483+6C>T rs754169968 0.00001
NM_144670.6(A2ML1):c.61C>G (p.Pro21Ala) rs749520022 0.00001
NM_144670.6(A2ML1):c.63-14T>G rs370199872 0.00001
NM_144670.6(A2ML1):c.651G>A (p.Pro217=) rs761197510 0.00001
NM_144670.6(A2ML1):c.738T>C (p.Tyr246=) rs917047914 0.00001
NM_144670.6(A2ML1):c.906C>T (p.Asp302=) rs1943356243 0.00001
NM_144670.6(A2ML1):c.942T>C (p.Ile314=) rs757883065 0.00001
NM_144670.6(A2ML1):c.970+13C>T rs748203389 0.00001
NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter) rs1007463257 0.00001
NM_144670.6(A2ML1):c.978G>A (p.Glu326=) rs371390076 0.00001
NM_144670.5(A2ML1):c.-50C>G rs781435396
NM_144670.6(A2ML1):c.*1+119G>T rs115482939
NM_144670.6(A2ML1):c.-16T>C rs369625679
NM_144670.6(A2ML1):c.1002C>T (p.Tyr334=) rs748235206
NM_144670.6(A2ML1):c.1020A>G (p.Gly340=) rs2136786964
NM_144670.6(A2ML1):c.1053C>T (p.Tyr351=) rs1592116973
NM_144670.6(A2ML1):c.1080+16T>C rs1300794467
NM_144670.6(A2ML1):c.1080+19C>G
NM_144670.6(A2ML1):c.1080+7T>C rs2136787494
NM_144670.6(A2ML1):c.1081-349_1081-348insCGGA
NM_144670.6(A2ML1):c.1081-352A>C rs11047528
NM_144670.6(A2ML1):c.1081-355GGAA[4] rs71045214
NM_144670.6(A2ML1):c.1081-355GGAA[5] rs71045214
NM_144670.6(A2ML1):c.1081-355GGAA[7] rs71045214
NM_144670.6(A2ML1):c.1081-356C>A rs2098243
NM_144670.6(A2ML1):c.1081-356_1081-348delinsAGGAAGGACGGAC rs2136800125
NM_144670.6(A2ML1):c.1095C>A (p.Gly365=)
NM_144670.6(A2ML1):c.1095C>T (p.Gly365=)
NM_144670.6(A2ML1):c.1098T>C (p.His366=) rs2136803083
NM_144670.6(A2ML1):c.1128G>A (p.Val376=)
NM_144670.6(A2ML1):c.1137G>A (p.Val379=)
NM_144670.6(A2ML1):c.1179T>C (p.Thr393=)
NM_144670.6(A2ML1):c.1182T>C (p.Asp394=)
NM_144670.6(A2ML1):c.1191C>T (p.Gly397=) rs2136803703
NM_144670.6(A2ML1):c.1194A>G (p.Leu398=)
NM_144670.6(A2ML1):c.1215A>T (p.Thr405=) rs765903113
NM_144670.6(A2ML1):c.1248+13G>A
NM_144670.6(A2ML1):c.1248+17G>T rs1943481849
NM_144670.6(A2ML1):c.1269C>T (p.Asp423=) rs776386210
NM_144670.6(A2ML1):c.126C>T (p.Asp42=)
NM_144670.6(A2ML1):c.1275A>T (p.Val425=)
NM_144670.6(A2ML1):c.127C>T (p.Leu43=) rs1051881399
NM_144670.6(A2ML1):c.1296A>G (p.Pro432=)
NM_144670.6(A2ML1):c.129G>C (p.Leu43=)
NM_144670.6(A2ML1):c.1314C>T (p.Ala438=)
NM_144670.6(A2ML1):c.1326G>T (p.Leu442=)
NM_144670.6(A2ML1):c.1356C>T (p.Phe452=)
NM_144670.6(A2ML1):c.1372C>T (p.Leu458=)
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu) rs757200771
NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp) rs757576013
NM_144670.6(A2ML1):c.1395C>T (p.Gly465=)
NM_144670.6(A2ML1):c.1434G>A (p.Pro478=)
NM_144670.6(A2ML1):c.1443A>C (p.Ala481=)
NM_144670.6(A2ML1):c.1455A>G (p.Gln485=)
NM_144670.6(A2ML1):c.1476+16G>A rs769801611
NM_144670.6(A2ML1):c.1476+307G>A rs116469747
NM_144670.6(A2ML1):c.1476+8C>T rs75676135
NM_144670.6(A2ML1):c.1477-280A>G
NM_144670.6(A2ML1):c.1499T>A (p.Val500Glu)
NM_144670.6(A2ML1):c.1506G>A (p.Glu502=)
NM_144670.6(A2ML1):c.1537+14C>A
NM_144670.6(A2ML1):c.1537+16T>C
NM_144670.6(A2ML1):c.1537+7G>A
NM_144670.6(A2ML1):c.1538-11T>C rs2136836527
NM_144670.6(A2ML1):c.1538-203T>A rs1481159356
NM_144670.6(A2ML1):c.1538-212_1538-184del rs1464911031
NM_144670.6(A2ML1):c.1538-212_1538-185del rs1435919560
NM_144670.6(A2ML1):c.1538-217_1538-216insTAAATAAAT rs60340954
NM_144670.6(A2ML1):c.1542G>C (p.Leu514=)
NM_144670.6(A2ML1):c.1569C>A (p.Thr523=) rs1455152222
NM_144670.6(A2ML1):c.1578G>A (p.Ser526=)
NM_144670.6(A2ML1):c.159G>A (p.Thr53=) rs767370461
NM_144670.6(A2ML1):c.159G>T (p.Thr53=)
NM_144670.6(A2ML1):c.1662C>T (p.Val554=)
NM_144670.6(A2ML1):c.1683+13C>T
NM_144670.6(A2ML1):c.1683+14G>A
NM_144670.6(A2ML1):c.1683+270G>T rs116128689
NM_144670.6(A2ML1):c.1684-11C>T rs1199799846
NM_144670.6(A2ML1):c.1684-18T>C
NM_144670.6(A2ML1):c.1684-19A>T
NM_144670.6(A2ML1):c.1684-286_1684-285dup rs569093906
NM_144670.6(A2ML1):c.1684-288_1684-285del rs569093906
NM_144670.6(A2ML1):c.1689C>T (p.Ser563=) rs1943733778
NM_144670.6(A2ML1):c.1731G>C (p.Val577=) rs1943736223
NM_144670.6(A2ML1):c.1735C>T (p.Leu579=)
NM_144670.6(A2ML1):c.1749A>G (p.Ala583=) rs2136849695
NM_144670.6(A2ML1):c.1758A>G (p.Gly586=)
NM_144670.6(A2ML1):c.1767T>C (p.Cys589=)
NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val) rs770246364
NM_144670.6(A2ML1):c.1770G>C (p.Ala590=) rs373656984
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln) rs200673370
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu) rs200673370
NM_144670.6(A2ML1):c.1779G>A (p.Ala593=)
NM_144670.6(A2ML1):c.1782G>A (p.Val594=)
NM_144670.6(A2ML1):c.1824C>T (p.Ser608=)
NM_144670.6(A2ML1):c.1833+12_1833+15del
NM_144670.6(A2ML1):c.1833+305dup rs11312111
NM_144670.6(A2ML1):c.1834-12C>G
NM_144670.6(A2ML1):c.1834-12C>T rs771794782
NM_144670.6(A2ML1):c.1834-13C>A
NM_144670.6(A2ML1):c.1872C>A (p.Pro624=)
NM_144670.6(A2ML1):c.1887G>A (p.Glu629=)
NM_144670.6(A2ML1):c.1902A>G (p.Pro634=) rs2136860232
NM_144670.6(A2ML1):c.1914A>G (p.Pro638=)
NM_144670.6(A2ML1):c.1941C>T (p.Asp647=)
NM_144670.6(A2ML1):c.1962G>C (p.Ser654=)
NM_144670.6(A2ML1):c.1992G>A (p.Ser664=) rs765976469
NM_144670.6(A2ML1):c.1992G>T (p.Ser664=)
NM_144670.6(A2ML1):c.1998T>C (p.Ser666=)
NM_144670.6(A2ML1):c.2028+14C>T
NM_144670.6(A2ML1):c.2028+16C>T rs1389459708
NM_144670.6(A2ML1):c.2028+8T>C
NM_144670.6(A2ML1):c.2029-19T>C
NM_144670.6(A2ML1):c.2049G>A (p.Leu683=)
NM_144670.6(A2ML1):c.2079T>C (p.Asp693=)
NM_144670.6(A2ML1):c.2119+22_2119+23del
NM_144670.6(A2ML1):c.2119+22_2119+32del
NM_144670.6(A2ML1):c.2120-19G>A
NM_144670.6(A2ML1):c.2120-20C>T
NM_144670.6(A2ML1):c.2124C>T (p.Gly708=)
NM_144670.6(A2ML1):c.2136A>G (p.Pro712=)
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) rs759217676
NM_144670.6(A2ML1):c.2165A>G (p.His722Arg)
NM_144670.6(A2ML1):c.2187C>T (p.Val729=)
NM_144670.6(A2ML1):c.2199C>T (p.Phe733=) rs1943843473
NM_144670.6(A2ML1):c.2234+12C>T
NM_144670.6(A2ML1):c.2235-18G>A
NM_144670.6(A2ML1):c.2247G>A (p.Lys749=)
NM_144670.6(A2ML1):c.225C>T (p.His75=)
NM_144670.6(A2ML1):c.2268T>A (p.Val756=) rs1313674301
NM_144670.6(A2ML1):c.2277C>T (p.Ala759=)
NM_144670.6(A2ML1):c.2283C>T (p.Thr761=)
NM_144670.6(A2ML1):c.2301T>C (p.Ser767=) rs1592136589
NM_144670.6(A2ML1):c.2343T>C (p.Thr781=) rs1324138650
NM_144670.6(A2ML1):c.240C>T (p.Ser80=) rs79315547
NM_144670.6(A2ML1):c.2415C>G (p.Ser805=)
NM_144670.6(A2ML1):c.2430C>T (p.Ala810=)
NM_144670.6(A2ML1):c.2439C>T (p.Phe813=) rs2136879942
NM_144670.6(A2ML1):c.246+8_246+9del rs771893464
NM_144670.6(A2ML1):c.2463+10G>A rs1592136880
NM_144670.6(A2ML1):c.2463+7G>A
NM_144670.6(A2ML1):c.2464-5C>T rs1473312242
NM_144670.6(A2ML1):c.247-12T>C rs1366340701
NM_144670.6(A2ML1):c.247-6G>C
NM_144670.6(A2ML1):c.2487G>T (p.Ser829=)
NM_144670.6(A2ML1):c.2490T>C (p.His830=)
NM_144670.6(A2ML1):c.2508A>G (p.Ser836=)
NM_144670.6(A2ML1):c.2526C>G (p.Thr842=)
NM_144670.6(A2ML1):c.2587T>C (p.Leu863=) rs746960070
NM_144670.6(A2ML1):c.2591-11C>A rs1270246192
NM_144670.6(A2ML1):c.2591-18C>T
NM_144670.6(A2ML1):c.2591-6T>C
NM_144670.6(A2ML1):c.2607T>C (p.Thr869=)
NM_144670.6(A2ML1):c.2623C>T (p.Leu875=)
NM_144670.6(A2ML1):c.2628C>T (p.Asp876=)
NM_144670.6(A2ML1):c.2664T>A (p.Val888=) rs751324491
NM_144670.6(A2ML1):c.2670A>G (p.Gln890=) rs767309974
NM_144670.6(A2ML1):c.2688G>A (p.Thr896=)
NM_144670.6(A2ML1):c.2712+16del rs1555113735
NM_144670.6(A2ML1):c.2713-11C>A
NM_144670.6(A2ML1):c.2724C>T (p.Val908=)
NM_144670.6(A2ML1):c.2730G>A (p.Val910=) rs748749081
NM_144670.6(A2ML1):c.2742C>T (p.His914=) rs2136898562
NM_144670.6(A2ML1):c.2748A>T (p.Ser916=)
NM_144670.6(A2ML1):c.2764+20del rs764632191
NM_144670.6(A2ML1):c.2769G>A (p.Lys923=)
NM_144670.6(A2ML1):c.2775A>T (p.Ala925=)
NM_144670.6(A2ML1):c.2790C>T (p.Ser930=)
NM_144670.6(A2ML1):c.2796G>C (p.Glu932Asp)
NM_144670.6(A2ML1):c.279G>A (p.Val93=)
NM_144670.6(A2ML1):c.279G>T (p.Val93=)
NM_144670.6(A2ML1):c.2826C>T (p.Thr942=)
NM_144670.6(A2ML1):c.282C>G (p.Ala94=) rs185046854
NM_144670.6(A2ML1):c.282C>T (p.Ala94=) rs185046854
NM_144670.6(A2ML1):c.2848+106A>C rs112974204
NM_144670.6(A2ML1):c.2848+19T>C
NM_144670.6(A2ML1):c.2849-19C>G rs2136912170
NM_144670.6(A2ML1):c.2862C>T (p.Gly954=)
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_144670.6(A2ML1):c.2985G>C (p.Thr995=)
NM_144670.6(A2ML1):c.2997G>A (p.Arg999=) rs1198210321
NM_144670.6(A2ML1):c.3025+20C>T
NM_144670.6(A2ML1):c.3025+9G>A
NM_144670.6(A2ML1):c.3026-8C>T rs2136914827
NM_144670.6(A2ML1):c.3026-9del rs766125259
NM_144670.6(A2ML1):c.3051A>G (p.Lys1017=)
NM_144670.6(A2ML1):c.3107+11C>T
NM_144670.6(A2ML1):c.3108-11T>C
NM_144670.6(A2ML1):c.3108-17C>T
NM_144670.6(A2ML1):c.3108-5T>C
NM_144670.6(A2ML1):c.3108-9C>T rs958292588
NM_144670.6(A2ML1):c.3109C>T (p.Leu1037=)
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala) rs565930773
NM_144670.6(A2ML1):c.3138C>T (p.Gly1046=)
NM_144670.6(A2ML1):c.3183T>C (p.Asp1061=)
NM_144670.6(A2ML1):c.3186T>C (p.Ala1062=)
NM_144670.6(A2ML1):c.3213C>T (p.Leu1071=)
NM_144670.6(A2ML1):c.3264+7A>C
NM_144670.6(A2ML1):c.3294T>G (p.Thr1098=) rs764429289
NM_144670.6(A2ML1):c.3297G>A (p.Ala1099=) rs201278545
NM_144670.6(A2ML1):c.3297G>C (p.Ala1099=) rs201278545
NM_144670.6(A2ML1):c.3303C>T (p.Val1101=)
NM_144670.6(A2ML1):c.3318G>A (p.Leu1106=)
NM_144670.6(A2ML1):c.3322A>T (p.Met1108Leu)
NM_144670.6(A2ML1):c.3339+11C>T
NM_144670.6(A2ML1):c.3346A>G (p.Met1116Val) rs79889829
NM_144670.6(A2ML1):c.3366G>C (p.Arg1122=)
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=)
NM_144670.6(A2ML1):c.3384C>T (p.Ala1128=)
NM_144670.6(A2ML1):c.3393G>A (p.Thr1131=)
NM_144670.6(A2ML1):c.3398A>G (p.Asn1133Ser)
NM_144670.6(A2ML1):c.3405C>T (p.Tyr1135=)
NM_144670.6(A2ML1):c.3414C>T (p.Ala1138=)
NM_144670.6(A2ML1):c.3417G>A (p.Leu1139=)
NM_144670.6(A2ML1):c.342A>C (p.Leu114=) rs2136697884
NM_144670.6(A2ML1):c.3431del (p.Phe1144fs) rs776004500
NM_144670.6(A2ML1):c.3447A>G (p.Glu1149=)
NM_144670.6(A2ML1):c.3462C>T (p.Asn1154=)
NM_144670.6(A2ML1):c.3477G>A (p.Gln1159=)
NM_144670.6(A2ML1):c.3503-16G>T rs2136942775
NM_144670.6(A2ML1):c.3503-20T>C rs2136942759
NM_144670.6(A2ML1):c.3503-4A>T rs1592150513
NM_144670.6(A2ML1):c.3510C>A (p.Ser1170=) rs1060504130
NM_144670.6(A2ML1):c.3534T>A (p.Thr1178=)
NM_144670.6(A2ML1):c.3540A>G (p.Ser1180=)
NM_144670.6(A2ML1):c.3570G>A (p.Ala1190=)
NM_144670.6(A2ML1):c.360C>T (p.Asn120=)
NM_144670.6(A2ML1):c.363C>T (p.Gly121=)
NM_144670.6(A2ML1):c.3660C>T (p.Ser1220=)
NM_144670.6(A2ML1):c.3669T>C (p.Ala1223=)
NM_144670.6(A2ML1):c.3678C>A (p.Ala1226=)
NM_144670.6(A2ML1):c.3693A>C (p.Ala1231=)
NM_144670.6(A2ML1):c.36A>G (p.Leu12=)
NM_144670.6(A2ML1):c.3717+17C>T rs2136944295
NM_144670.6(A2ML1):c.3717+19C>T
NM_144670.6(A2ML1):c.3717+279C>T rs529270444
NM_144670.6(A2ML1):c.3718-13T>G rs2136956715
NM_144670.6(A2ML1):c.3718-19G>T
NM_144670.6(A2ML1):c.3723T>G (p.Thr1241=)
NM_144670.6(A2ML1):c.3732T>A (p.Ala1244=)
NM_144670.6(A2ML1):c.3756C>G (p.Ala1252=) rs749652025
NM_144670.6(A2ML1):c.3762C>T (p.Thr1254=)
NM_144670.6(A2ML1):c.3765C>G (p.Ala1255=) rs1157251634
NM_144670.6(A2ML1):c.3768C>T (p.Tyr1256=)
NM_144670.6(A2ML1):c.3768_3769inv (p.Met1257Val)
NM_144670.6(A2ML1):c.3786C>T (p.Ile1262=) rs1944473926
NM_144670.6(A2ML1):c.3804C>G (p.Ser1268=) rs878855211
NM_144670.6(A2ML1):c.3825A>T (p.Thr1275=)
NM_144670.6(A2ML1):c.3909A>G (p.Ser1303=)
NM_144670.6(A2ML1):c.390C>G (p.Leu130=)
NM_144670.6(A2ML1):c.3933+10G>C rs887874487
NM_144670.6(A2ML1):c.3933+16T>C
NM_144670.6(A2ML1):c.3933+8_3933+11del rs2136958659
NM_144670.6(A2ML1):c.3934-15A>G
NM_144670.6(A2ML1):c.393C>T (p.Tyr131=)
NM_144670.6(A2ML1):c.3940T>C (p.Leu1314=) rs2136959650
NM_144670.6(A2ML1):c.3960T>G (p.Pro1320=)
NM_144670.6(A2ML1):c.3969T>C (p.Asn1323=)
NM_144670.6(A2ML1):c.3987T>C (p.Leu1329=)
NM_144670.6(A2ML1):c.4022C>T (p.Pro1341Leu)
NM_144670.6(A2ML1):c.4061+15G>A
NM_144670.6(A2ML1):c.4061+16G>A rs200962359
NM_144670.6(A2ML1):c.4062-20T>C
NM_144670.6(A2ML1):c.4062-5C>T
NM_144670.6(A2ML1):c.4065T>C (p.Tyr1355=)
NM_144670.6(A2ML1):c.4077T>C (p.Arg1359=) rs1592156593
NM_144670.6(A2ML1):c.4086C>T (p.Ser1362=)
NM_144670.6(A2ML1):c.410-15C>G
NM_144670.6(A2ML1):c.410-52_410-51del rs778132993
NM_144670.6(A2ML1):c.410-52_410-51dup rs778132993
NM_144670.6(A2ML1):c.4143C>T (p.Thr1381=)
NM_144670.6(A2ML1):c.4152+8A>G rs747413216
NM_144670.6(A2ML1):c.4153-17del
NM_144670.6(A2ML1):c.4167C>T (p.Pro1389=)
NM_144670.6(A2ML1):c.4206C>T (p.Asn1402=)
NM_144670.6(A2ML1):c.4221+16C>T
NM_144670.6(A2ML1):c.4222-11C>G
NM_144670.6(A2ML1):c.423T>C (p.Ile141=) rs1592103349
NM_144670.6(A2ML1):c.4248C>A (p.Thr1416=)
NM_144670.6(A2ML1):c.4254C>T (p.Thr1418=)
NM_144670.6(A2ML1):c.4281C>T (p.Asn1427=)
NM_144670.6(A2ML1):c.4296C>A (p.Thr1432=)
NM_144670.6(A2ML1):c.4305C>G (p.Val1435=)
NM_144670.6(A2ML1):c.4325-9A>G
NM_144670.6(A2ML1):c.4341T>A (p.Ile1447=) rs1592164861
NM_144670.6(A2ML1):c.4356C>T (p.Pro1452=)
NM_144670.6(A2ML1):c.462+10G>A rs2136729288
NM_144670.6(A2ML1):c.462+17A>C
NM_144670.6(A2ML1):c.462+19A>G
NM_144670.6(A2ML1):c.462+19_462+21del
NM_144670.6(A2ML1):c.462+9GGA[2] rs750639846
NM_144670.6(A2ML1):c.462+9GGA[5] rs750639846
NM_144670.6(A2ML1):c.463-15G>C
NM_144670.6(A2ML1):c.484-9A>G
NM_144670.6(A2ML1):c.494G>A (p.Ser165Asn) rs962354900
NM_144670.6(A2ML1):c.540T>C (p.Ile180=) rs377551636
NM_144670.6(A2ML1):c.55G>A (p.Glu19Lys)
NM_144670.6(A2ML1):c.564A>G (p.Ala188=)
NM_144670.6(A2ML1):c.582C>T (p.Gly194=)
NM_144670.6(A2ML1):c.585C>G (p.Thr195=)
NM_144670.6(A2ML1):c.597A>G (p.Ala199=)
NM_144670.6(A2ML1):c.619G>T (p.Gly207Cys) rs11047499
NM_144670.6(A2ML1):c.62+9T>C
NM_144670.6(A2ML1):c.63-6del rs1463624612
NM_144670.6(A2ML1):c.643+14T>C
NM_144670.6(A2ML1):c.643+16G>A
NM_144670.6(A2ML1):c.643+20G>A
NM_144670.6(A2ML1):c.644-222_644-221del rs753902128
NM_144670.6(A2ML1):c.681G>A (p.Lys227=) rs748686815
NM_144670.6(A2ML1):c.69C>T (p.Tyr23=)
NM_144670.6(A2ML1):c.714A>T (p.Val238=)
NM_144670.6(A2ML1):c.728+17G>C
NM_144670.6(A2ML1):c.728+8C>T
NM_144670.6(A2ML1):c.729-5G>A rs1259899609
NM_144670.6(A2ML1):c.747C>T (p.Pro249=)
NM_144670.6(A2ML1):c.810G>A (p.Val270=) rs2136775064
NM_144670.6(A2ML1):c.833A>G (p.Lys278Arg)
NM_144670.6(A2ML1):c.840G>A (p.Arg280=)
NM_144670.6(A2ML1):c.844C>T (p.Leu282Phe)
NM_144670.6(A2ML1):c.84A>T (p.Pro28=) rs2136693929
NM_144670.6(A2ML1):c.855+15G>A rs2136775573
NM_144670.6(A2ML1):c.855+343del rs151300022
NM_144670.6(A2ML1):c.856-15T>C
NM_144670.6(A2ML1):c.856-9C>A
NM_144670.6(A2ML1):c.861C>T (p.Asp287=) rs61921916
NM_144670.6(A2ML1):c.882A>G (p.Ala294=) rs1292512117
NM_144670.6(A2ML1):c.888G>A (p.Val296=)
NM_144670.6(A2ML1):c.921G>C (p.Ala307=) rs372520121
NM_144670.6(A2ML1):c.924C>T (p.Tyr308=)
NM_144670.6(A2ML1):c.933A>G (p.Gln311=)
NM_144670.6(A2ML1):c.970+16C>T
NM_144670.6(A2ML1):c.970+318C>T rs7969994
NM_144670.6(A2ML1):c.971-18T>A
NM_144670.6(A2ML1):c.971-211G>A rs56766736
NM_144670.6(A2ML1):c.975G>A (p.Val325=) rs1414148497

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