ClinVar Miner

List of variants in gene A2ML1

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Gene type:
ClinVar version:
Total variants: 1524
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.3686A>G (p.His1229Arg) rs10219561 0.99275
NM_144670.6(A2ML1):c.2550C>A (p.Asp850Glu) rs1860926 0.99164
NM_144670.6(A2ML1):c.643+280C>G rs10743503 0.94467
NM_144670.6(A2ML1):c.643+141A>C rs4883188 0.94333
NM_144670.6(A2ML1):c.3717+201T>G rs58475006 0.93465
NM_144670.6(A2ML1):c.3503-181G>A rs7305103 0.93413
NM_144670.6(A2ML1):c.3502+706A>G rs6487422 0.93352
NM_144670.6(A2ML1):c.3503-183A>G rs7136294 0.93331
NM_144670.6(A2ML1):c.1080+304_1080+305insT rs55754466 0.93015
NM_144670.6(A2ML1):c.1248+80T>C rs1468695 0.92975
NM_144670.6(A2ML1):c.3717+249C>A rs61919496 0.92892
NM_144670.6(A2ML1):c.3717+257C>T rs61919499 0.92465
NM_144670.6(A2ML1):c.3717+258A>G rs61919500 0.92399
NM_144670.6(A2ML1):c.1080+180C>A rs1344452 0.92386
NM_144670.6(A2ML1):c.3717+264A>G rs10219565 0.91897
NM_144670.6(A2ML1):c.3717+253G>C rs61919498 0.87472
NM_144670.6(A2ML1):c.2367G>A (p.Pro789=) rs1860927 0.81108
NM_144670.6(A2ML1):c.856-119A>G rs10743504 0.78472
NM_144670.6(A2ML1):c.3769A>G (p.Met1257Val) rs7308811 0.78244
NM_144670.6(A2ML1):c.644-74A>G rs1894814 0.78018
NM_144670.6(A2ML1):c.409+286A>G rs10842349 0.77235
NM_144670.6(A2ML1):c.1080+152G>A rs7304994 0.75618
NM_144670.6(A2ML1):c.970+200C>T rs10734734 0.75544
NM_144670.6(A2ML1):c.4020A>G (p.Gln1340=) rs1476910 0.71936
NM_144670.6(A2ML1):c.*220G>A rs4883194 0.64886
NM_144670.6(A2ML1):c.409+302T>C rs11047443 0.57819
NM_144670.6(A2ML1):c.1249-207C>G rs7137125 0.48769
NM_144670.6(A2ML1):c.1538-216A>T rs10842392 0.47776
NM_144670.6(A2ML1):c.2848+130G>C rs1468711 0.44706
NM_144670.6(A2ML1):c.2712+186C>G rs10734735 0.43964
NM_144670.6(A2ML1):c.4152+33C>T rs12816475 0.42914
NM_144670.6(A2ML1):c.3025+63_3025+64insAA rs3079157 0.42130
NM_144670.6(A2ML1):c.2463+59G>C rs4882965 0.42018
NM_144670.6(A2ML1):c.4153-206C>A rs7970020 0.41846
NM_144670.6(A2ML1):c.*2-87T>G rs7959289 0.40020
NM_144670.6(A2ML1):c.3502+824T>C rs17729741 0.35843
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_144670.6(A2ML1):c.1476+9G>A rs7136813 0.32464
NM_144670.4(A2ML1):c.-433T>C rs11047432 0.31942
NM_144670.6(A2ML1):c.3237G>A (p.Val1079=) rs11612600 0.29274
NM_144670.6(A2ML1):c.1538-212del rs369875339 0.28576
NM_144670.6(A2ML1):c.855+237C>T rs11047514 0.27053
NM_144670.6(A2ML1):c.63-173A>G rs7297690 0.26552
NM_144670.6(A2ML1):c.1249-36A>G rs7307991 0.26317
NM_144670.6(A2ML1):c.4325-138A>G rs7316141 0.22195
NM_144670.6(A2ML1):c.3264+271A>G rs11610808 0.22002
NM_144670.6(A2ML1):c.1477-197G>T rs7300139 0.21679
NM_144670.6(A2ML1):c.2234+157T>A rs7136690 0.21551
NM_144670.6(A2ML1):c.2234+62A>G rs6487407 0.21519
NM_144670.6(A2ML1):c.1833+316A>G rs57785077 0.21517
NM_144670.6(A2ML1):c.2028+207T>C rs7978604 0.21467
NM_144670.6(A2ML1):c.1833+194T>C rs12296947 0.21458
NM_144670.6(A2ML1):c.1683+74A>G rs55906630 0.21324
NM_144670.6(A2ML1):c.4152+207G>C rs7969113 0.20455
NM_144670.6(A2ML1):c.3502+421A>G rs7313176 0.18461
NM_144670.6(A2ML1):c.3502+714C>T rs7297803 0.18105
NM_144670.6(A2ML1):c.2909G>A (p.Cys970Tyr) rs1558526 0.17216
NM_144670.6(A2ML1):c.2713-215T>G rs4503592 0.14307
NM_144670.6(A2ML1):c.855+239G>A rs112713007 0.13194
NM_144670.6(A2ML1):c.971-282C>T rs7305259 0.12981
NM_144670.6(A2ML1):c.483+139A>G rs17729632 0.12822
NM_144670.6(A2ML1):c.644-187A>G rs17802399 0.12669
NM_144670.6(A2ML1):c.3265-148G>A rs17802465 0.12242
NM_144670.6(A2ML1):c.4061+68T>C rs73234380 0.11383
NM_144670.6(A2ML1):c.4152+60A>T rs55776445 0.10862
NM_144670.6(A2ML1):c.3718-110T>C rs7311897 0.10852
NM_144670.6(A2ML1):c.3718-232G>A rs7136954 0.10843
NM_144670.6(A2ML1):c.3843T>C (p.Val1281=) rs61749073 0.10820
NM_144670.6(A2ML1):c.3934-30C>T rs79655903 0.10801
NM_144670.6(A2ML1):c.3934-32G>C rs77655847 0.10800
NM_144670.6(A2ML1):c.3717+61G>C rs17802489 0.10604
NM_144670.6(A2ML1):c.4325-207A>G rs16917867 0.10401
NM_144670.6(A2ML1):c.3265-35C>T rs35198143 0.10156
NM_144670.6(A2ML1):c.3503-72T>C rs73234371 0.10074
NM_144670.6(A2ML1):c.3933+27G>A rs16917857 0.07185
NM_144670.6(A2ML1):c.3502+813G>A rs76320094 0.06905
NM_144670.6(A2ML1):c.3718-186A>G rs756694744 0.06885
NM_144670.6(A2ML1):c.1275A>G (p.Val425=) rs7308106 0.06706
NM_144670.6(A2ML1):c.1477-123C>T rs7301066 0.06668
NM_144670.6(A2ML1):c.3502+252G>A rs56206826 0.06380
NM_144670.6(A2ML1):c.2849-153G>T rs117033574 0.05435
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_144670.6(A2ML1):c.3107+42A>G rs73038782 0.05403
NM_144670.6(A2ML1):c.186C>T (p.Thr62=) rs17792974 0.04826
NM_144670.6(A2ML1):c.*1+108G>A rs73047833 0.04376
NM_144670.6(A2ML1):c.4324+205G>A rs7964759 0.04154
NM_144670.6(A2ML1):c.2849-198G>A rs144563064 0.03856
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_144670.6(A2ML1):c.3264+108A>G rs12304546 0.03715
NM_144670.6(A2ML1):c.3107+89C>T rs113352253 0.03708
NM_144670.6(A2ML1):c.2849-123C>T rs79279876 0.03701
NM_144670.6(A2ML1):c.2849-29T>C rs78452682 0.03689
NM_144670.6(A2ML1):c.3026-53G>A rs78428703 0.03679
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs) rs144686314 0.03504
NM_144670.6(A2ML1):c.2550= (p.Asp850=) rs1860926 0.03420
NM_144670.6(A2ML1):c.855+65C>T rs57372825 0.03028
NM_144670.6(A2ML1):c.643+208G>A rs11047500 0.03011
NM_144670.6(A2ML1):c.462+130C>T rs75886084 0.02942
NM_144670.6(A2ML1):c.971-179A>G rs868238579 0.02902
NM_144670.6(A2ML1):c.463-9C>G rs11047493 0.02873
NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser) rs61744220 0.02860
NM_144670.6(A2ML1):c.2848+103A>G rs12300533 0.02797
NM_144670.6(A2ML1):c.2848+89C>T rs12320470 0.02796
NM_144670.6(A2ML1):c.2848+99A>G rs12300532 0.02793
NM_144670.6(A2ML1):c.1684-182C>T rs79234083 0.02699
NM_144670.6(A2ML1):c.1101T>C (p.Asp367=) rs61744222 0.02500
NM_144670.6(A2ML1):c.4234A>G (p.Thr1412Ala) rs7315591 0.02333
NM_144670.6(A2ML1):c.970+245G>A rs144127304 0.02019
NM_144670.6(A2ML1):c.1538-212_1538-208del rs1565475723 0.01889
NM_144670.6(A2ML1):c.4221+285C>T rs73236240 0.01799
NM_144670.6(A2ML1):c.1444_1445del (p.Ser482fs) rs143864957 0.01780
NM_144670.6(A2ML1):c.462+202A>C rs59758568 0.01738
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.3380C>T (p.Ser1127Leu) rs61749078 0.01369
NM_144670.6(A2ML1):c.3392C>T (p.Thr1131Met) rs7959680 0.01340
NM_144670.6(A2ML1):c.2234+199T>C rs7957548 0.01327
NM_144670.6(A2ML1):c.3272T>C (p.Val1091Ala) rs61736726 0.01323
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.1686T>G (p.Val562=) rs12296765 0.01152
NM_144670.6(A2ML1):c.2848+40G>T rs79250113 0.01068
NM_144670.6(A2ML1):c.4325-18A>T rs113456917 0.01045
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.2295G>A (p.Ala765=) rs79067860 0.00866
NM_144670.6(A2ML1):c.1538-208_1538-188del rs745849727 0.00838
NM_144670.6(A2ML1):c.3108-3dup rs142794811 0.00828
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.3686= (p.His1229=) rs10219561 0.00725
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.483+7G>A rs73037000 0.00640
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.633G>A (p.Val211=) rs79151946 0.00549
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.1249-44G>A rs73038726 0.00463
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.3550A>T (p.Ser1184Cys) rs143603619 0.00419
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.3026-47T>C rs187603560 0.00364
NM_144670.6(A2ML1):c.2234+50C>T rs184546046 0.00362
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.462+18G>A rs114265494 0.00352
NM_144670.6(A2ML1):c.3717+30A>T rs190462699 0.00344
NM_144670.6(A2ML1):c.1080+143A>G rs148648085 0.00337
NM_144670.6(A2ML1):c.1248+29A>T rs139302523 0.00334
NM_144670.6(A2ML1):c.3789C>G (p.Asn1263Lys) rs144876785 0.00327
NM_144670.5(A2ML1):c.-42T>A rs112610668 0.00318
NC_000012.12:g.8822235C>T rs141688347 0.00281
NM_144670.6(A2ML1):c.2032G>T (p.Val678Leu) rs148198269 0.00280
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) rs201247776 0.00256
NM_144670.6(A2ML1):c.863A>G (p.Lys288Arg) rs75617691 0.00252
NM_144670.6(A2ML1):c.1538-208T>A rs781212837 0.00230
NM_144670.6(A2ML1):c.1745A>G (p.Gln582Arg) rs200271507 0.00225
NM_144670.6(A2ML1):c.2029-5A>C rs145965024 0.00216
NM_144670.6(A2ML1):c.2713-8C>A rs184386564 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.1248+46T>A rs190877341 0.00133
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.2463+13G>C rs151032368 0.00123
NM_144670.6(A2ML1):c.484-32C>T rs377729149 0.00118
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_144670.6(A2ML1):c.200A>T (p.Glu67Val) rs190479708 0.00101
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.2764+12C>G rs372457078 0.00077
NM_144670.6(A2ML1):c.2234+16A>G rs560345386 0.00072
NM_144670.6(A2ML1):c.2027G>A (p.Arg676Gln) rs138301233 0.00070
NM_144670.6(A2ML1):c.2243G>A (p.Gly748Glu) rs74582459 0.00063
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) rs201478459 0.00061
NM_144670.6(A2ML1):c.2119+42C>T rs141137101 0.00056
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.3502+11C>T rs138636296 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.118T>G (p.Cys40Gly) rs933811492 0.00021
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.2235-38G>A rs374484598 0.00018
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.2590+19A>G rs368826484 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.3824C>T (p.Thr1275Ile) rs368114048 0.00016
NM_144670.6(A2ML1):c.3395C>T (p.Thr1132Ile) rs201093464 0.00015
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.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.4090A>G (p.Met1364Val) rs34274721 0.00011
NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr) rs201950472 0.00010
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.2234+10G>A rs753021676 0.00009
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.1081-1G>T rs754760292 0.00008
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.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.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.1327C>T (p.Arg443Ter) rs550751327 0.00006
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu) rs373823890 0.00006
NM_144670.6(A2ML1):c.1684-16C>T rs761750413 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.2231T>C (p.Ile744Thr) rs376655036 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.271G>A (p.Glu91Lys) rs771663545 0.00006
NM_144670.6(A2ML1):c.2848+4A>C rs375308468 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.3819G>C (p.Gln1273His) rs201147872 0.00006
NM_144670.6(A2ML1):c.3820C>T (p.Arg1274Cys) rs370804670 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.1537+22G>A rs747251577 0.00005
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His) rs372629661 0.00005
NM_144670.6(A2ML1):c.201A>G (p.Glu67=) rs371564965 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.1218C>T (p.Ser406=) rs747023059 0.00004
NM_144670.6(A2ML1):c.1287A>G (p.Glu429=) rs755195178 0.00004
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser) rs758716034 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.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.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.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.3503-11T>C rs949065571 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.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.4180G>T (p.Val1394Phe) rs756796720 0.00004
NM_144670.6(A2ML1):c.4325-9A>C rs1055879090 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.1280A>G (p.Asn427Ser) rs537292419 0.00003
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.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.2379C>G (p.Asp793Glu) rs754179635 0.00003
NM_144670.6(A2ML1):c.2470A>G (p.Thr824Ala) rs969030959 0.00003
NM_144670.6(A2ML1):c.2487G>A (p.Ser829=) rs747051668 0.00003
NM_144670.6(A2ML1):c.256C>T (p.Pro86Ser) rs766201825 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.3218G>A (p.Ser1073Asn) rs745334410 0.00003
NM_144670.6(A2ML1):c.3339+20G>A rs758617412 0.00003
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser) rs372562512 0.00003
NM_144670.6(A2ML1):c.3384C>G (p.Ala1128=) rs773681065 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.1041C>T (p.Thr347=) rs760996560 0.00002
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.1477-299G>T rs143808943 0.00002
NM_144670.6(A2ML1):c.1538-6T>C rs1444764339 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.2007G>A (p.Thr669=) rs201446135 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.216G>A (p.Lys72=) rs747225412 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.2232T>C (p.Ile744=) rs961372102 0.00002
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val) rs774472456 0.00002
NM_144670.6(A2ML1):c.2310T>C (p.Thr770=) rs370481255 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.2765-18T>A rs759540195 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.3105A>G (p.Thr1035=) rs201335448 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.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.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.3993G>A (p.Val1331=) rs762194080 0.00002
NM_144670.6(A2ML1):c.4023G>A (p.Pro1341=) rs751414888 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.644-5T>C rs769537819 0.00002
NM_144670.6(A2ML1):c.803G>A (p.Arg268Gln) rs767510479 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.971-3C>T rs755855348 0.00002
NM_144670.6(A2ML1):c.972T>G (p.Gly324=) rs779838500 0.00002
NM_144670.6(A2ML1):c.*1+1G>A rs1057518179 0.00001
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.106G>A (p.Val36Ile) rs1242821843 0.00001
NM_144670.6(A2ML1):c.1081-19A>G rs766986325 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.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.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.1395C>G (p.Gly465=) rs1943552986 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.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.1556C>G (p.Ser519Cys) rs202176589 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.1718C>T (p.Pro573Leu) rs1432449630 0.00001
NM_144670.6(A2ML1):c.1755C>T (p.Pro585=) rs760716902 0.00001
NM_144670.6(A2ML1):c.1778C>A (p.Ala593Glu) rs199779757 0.00001
NM_144670.6(A2ML1):c.1812C>T (p.Asp604=) rs1182071876 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.1881G>T (p.Val627=) rs371987177 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.2103C>T (p.Tyr701=) rs370270345 0.00001
NM_144670.6(A2ML1):c.2119+9C>T rs1428382436 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.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.2238C>G (p.Asn746Lys) rs369633399 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.2429C>A (p.Ala810Asp) rs778855832 0.00001
NM_144670.6(A2ML1):c.2451G>A (p.Lys817=) rs1320170708 0.00001
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe) rs1435627448 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.2534G>A (p.Cys845Tyr) rs764660758 0.00001
NM_144670.6(A2ML1):c.2572A>G (p.Ile858Val) rs752399681 0.00001
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=) rs188045880 0.00001
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn) rs754026014 0.00001
NM_144670.6(A2ML1):c.2712+12T>A rs774960083 0.00001
NM_144670.6(A2ML1):c.2712+3G>C rs1943986611 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.2827A>G (p.Lys943Glu) rs1060500994 0.00001
NM_144670.6(A2ML1):c.2849-10T>C rs774394683 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.288C>A (p.Ile96=) rs929958326 0.00001
NM_144670.6(A2ML1):c.2900C>T (p.Pro967Leu) rs202194008 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.2916G>A (p.Glu972=) rs1013263641 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.2976G>T (p.Gly992=) rs1944100639 0.00001
NM_144670.6(A2ML1):c.297G>A (p.Ser99=) rs759863656 0.00001
NM_144670.6(A2ML1):c.3001C>T (p.Arg1001Trp) rs201725377 0.00001
NM_144670.6(A2ML1):c.3042G>A (p.Leu1014=) rs757380603 0.00001
NM_144670.6(A2ML1):c.3086G>A (p.Arg1029Gln) rs762232957 0.00001
NM_144670.6(A2ML1):c.3108-8C>T rs748688899 0.00001
NM_144670.6(A2ML1):c.3116C>T (p.Ala1039Val) rs769398333 0.00001
NM_144670.6(A2ML1):c.3117G>A (p.Ala1039=) rs370178808 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.3228T>C (p.Tyr1076=) rs1361524724 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.3340-14T>C rs757329653 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.3418T>C (p.Leu1140=) rs1243472626 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.3495C>G (p.Ile1165Met) rs868320081 0.00001
NM_144670.6(A2ML1):c.3502+14G>C rs1277207408 0.00001
NM_144670.6(A2ML1):c.3523C>T (p.Gln1175Ter) rs1037613124 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.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.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.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.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.4070G>A (p.Gly1357Glu) rs771609901 0.00001
NM_144670.6(A2ML1):c.409+12A>G rs1304092038 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.4158C>G (p.Leu1386=) rs752763294 0.00001
NM_144670.6(A2ML1):c.4221+17C>T rs772852256 0.00001
NM_144670.6(A2ML1):c.4221+2T>C rs959378735 0.00001
NM_144670.6(A2ML1):c.4278C>T (p.Thr1426=) rs764258507 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.444C>T (p.Phe148=) rs914336844 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.540T>G (p.Ile180Met) rs377551636 0.00001
NM_144670.6(A2ML1):c.61C>G (p.Pro21Ala) rs749520022 0.00001
NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu) rs771087097 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.680A>G (p.Lys227Arg) rs750612606 0.00001
NM_144670.6(A2ML1):c.724T>C (p.Cys242Arg) rs777559324 0.00001
NM_144670.6(A2ML1):c.738T>C (p.Tyr246=) rs917047914 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.906C>T (p.Asp302=) rs1943356243 0.00001
NM_144670.6(A2ML1):c.942T>C (p.Ile314=) rs757883065 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.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
GRCh37/hg19 12p13.31(chr12:8966269-8986611)x1
NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del
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_144670.5(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.1016T>C (p.Met339Thr) rs2136786935
NM_144670.6(A2ML1):c.1019G>T (p.Gly340Val)
NM_144670.6(A2ML1):c.1020A>G (p.Gly340=) rs2136786964
NM_144670.6(A2ML1):c.1021T>A (p.Ser341Thr) rs1277845851
NM_144670.6(A2ML1):c.1022C>A (p.Ser341Ter) rs1943384970
NM_144670.6(A2ML1):c.1028C>T (p.Thr343Ile)
NM_144670.6(A2ML1):c.1044C>G (p.Ser348Arg) rs1437069980
NM_144670.6(A2ML1):c.1051T>C (p.Tyr351His)
NM_144670.6(A2ML1):c.1053C>T (p.Tyr351=) rs1592116973
NM_144670.6(A2ML1):c.1057C>T (p.Pro353Ser)
NM_144670.6(A2ML1):c.1058C>T (p.Pro353Leu)
NM_144670.6(A2ML1):c.1067C>G (p.Pro356Arg) rs863224953
NM_144670.6(A2ML1):c.1068del (p.Phe357fs)
NM_144670.6(A2ML1):c.1080+16T>C rs1300794467
NM_144670.6(A2ML1):c.1080+19C>G
NM_144670.6(A2ML1):c.1080+318_1080+320del rs60993517
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.1082_1083insTTCTTT (p.Ile361_Arg362insSerLeu) rs1442165320
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.10C>T (p.Gln4Ter) rs1409944554
NM_144670.6(A2ML1):c.110A>G (p.Gln37Arg)
NM_144670.6(A2ML1):c.1128G>A (p.Val376=)
NM_144670.6(A2ML1):c.112_114del (p.Lys38del) rs774086428
NM_144670.6(A2ML1):c.1137G>A (p.Val379=)
NM_144670.6(A2ML1):c.1154G>A (p.Gly385Glu)
NM_144670.6(A2ML1):c.1163A>C (p.Asn388Thr)
NM_144670.6(A2ML1):c.1163A>G (p.Asn388Ser)
NM_144670.6(A2ML1):c.1176del (p.Thr393fs) rs1943477947
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.1193T>C (p.Leu398Pro)
NM_144670.6(A2ML1):c.1194A>G (p.Leu398=)
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.1215A>T (p.Thr405=) rs765903113
NM_144670.6(A2ML1):c.1216T>G (p.Ser406Ala)
NM_144670.6(A2ML1):c.1218del (p.Gly407fs) rs1555109581
NM_144670.6(A2ML1):c.1219G>A (p.Gly407Ser) rs921912575
NM_144670.6(A2ML1):c.1226A>T (p.Asn409Ile)
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.1248+10G>A
NM_144670.6(A2ML1):c.1248+13G>A
NM_144670.6(A2ML1):c.1248+17G>T rs1943481849
NM_144670.6(A2ML1):c.1249-19_1319dup rs1943546023
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.1276T>C (p.Tyr426His)
NM_144670.6(A2ML1):c.127C>G (p.Leu43Val)
NM_144670.6(A2ML1):c.127C>T (p.Leu43=) rs1051881399
NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer) rs1942804878
NM_144670.6(A2ML1):c.1296A>G (p.Pro432=)
NM_144670.6(A2ML1):c.1297C>T (p.Arg433Cys)
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His) rs376035211
NM_144670.6(A2ML1):c.129G>C (p.Leu43=)
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His) rs780743143
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.1314C>T (p.Ala438=)
NM_144670.6(A2ML1):c.1326G>T (p.Leu442=)
NM_144670.6(A2ML1):c.133C>T (p.Pro45Ser)
NM_144670.6(A2ML1):c.1345A>G (p.Thr449Ala) rs1943550917
NM_144670.6(A2ML1):c.1349G>A (p.Arg450His)
NM_144670.6(A2ML1):c.1356C>T (p.Phe452=)
NM_144670.6(A2ML1):c.1357C>T (p.Leu453Phe)
NM_144670.6(A2ML1):c.1363A>G (p.Ile455Val)
NM_144670.6(A2ML1):c.1369C>T (p.Arg457Trp)
NM_144670.6(A2ML1):c.1372C>T (p.Leu458=)
NM_144670.6(A2ML1):c.1377C>A (p.Asn459Lys)
NM_144670.6(A2ML1):c.1379G>A (p.Gly460Asp)
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.1394G>T (p.Gly465Val)
NM_144670.6(A2ML1):c.1395C>T (p.Gly465=)
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.1423T>A (p.Tyr475Asn)
NM_144670.6(A2ML1):c.1427T>A (p.Ile476Asn)
NM_144670.6(A2ML1):c.1429G>A (p.Asp477Asn) rs776595459
NM_144670.6(A2ML1):c.1434G>A (p.Pro478=)
NM_144670.6(A2ML1):c.1436C>A (p.Ala479Asp)
NM_144670.6(A2ML1):c.143G>C (p.Ser48Thr)
NM_144670.6(A2ML1):c.1443A>C (p.Ala481=)
NM_144670.6(A2ML1):c.1455A>G (p.Gln485=)
NM_144670.6(A2ML1):c.1471T>C (p.Tyr491His) rs1060500995
NM_144670.6(A2ML1):c.1475A>G (p.Tyr492Cys) rs1943556876
NM_144670.6(A2ML1):c.1476+16G>A rs769801611
NM_144670.6(A2ML1):c.1476+19del rs2136817368
NM_144670.6(A2ML1):c.1476+1G>A
NM_144670.6(A2ML1):c.1476+1G>T
NM_144670.6(A2ML1):c.1476+307G>A rs116469747
NM_144670.6(A2ML1):c.1476+8C>G rs75676135
NM_144670.6(A2ML1):c.1476+8C>T rs75676135
NM_144670.6(A2ML1):c.1477-280A>G
NM_144670.6(A2ML1):c.1478T>C (p.Leu493Ser) rs2136829726
NM_144670.6(A2ML1):c.1481T>C (p.Ile494Thr)
NM_144670.6(A2ML1):c.1483G>A (p.Gly495Arg)
NM_144670.6(A2ML1):c.1487A>G (p.Lys496Arg) rs771450618
NM_144670.6(A2ML1):c.148G>T (p.Val50Phe)
NM_144670.6(A2ML1):c.1499T>A (p.Val500Glu)
NM_144670.6(A2ML1):c.1503G>A (p.Met501Ile)
NM_144670.6(A2ML1):c.1506G>A (p.Glu502=)
NM_144670.6(A2ML1):c.1511A>G (p.Gln504Arg)
NM_144670.6(A2ML1):c.1526_1527insCTTA (p.Lys510fs)
NM_144670.6(A2ML1):c.1537+14C>A
NM_144670.6(A2ML1):c.1537+16T>C
NM_144670.6(A2ML1):c.1537+1G>A
NM_144670.6(A2ML1):c.1537+1G>T
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.1538-208_1538-187del rs1432064692
NM_144670.6(A2ML1):c.1538-211AAATA[6] rs140753342
NM_144670.6(A2ML1):c.1538-211AAATA[7] rs140753342
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.1538-212_1538-186del rs1482516150
NM_144670.6(A2ML1):c.1538-212_1538-187del rs1418791957
NM_144670.6(A2ML1):c.1538-217_1538-216insTAAATAAAT rs60340954
NM_144670.6(A2ML1):c.1542G>C (p.Leu514=)
NM_144670.6(A2ML1):c.1545del (p.Ala516fs)
NM_144670.6(A2ML1):c.1550C>T (p.Ser517Phe)
NM_144670.6(A2ML1):c.1569C>A (p.Thr523=) rs1455152222
NM_144670.6(A2ML1):c.1577C>G (p.Ser526Trp)
NM_144670.6(A2ML1):c.1577C>T (p.Ser526Leu)
NM_144670.6(A2ML1):c.1578G>A (p.Ser526=)
NM_144670.6(A2ML1):c.1580G>C (p.Arg527Thr)
NM_144670.6(A2ML1):c.1589C>T (p.Pro530Leu)
NM_144670.6(A2ML1):c.1589del (p.Pro530fs) rs1943676133
NM_144670.6(A2ML1):c.158C>T (p.Thr53Met) rs79149293
NM_144670.6(A2ML1):c.1591G>A (p.Asp531Asn)
NM_144670.6(A2ML1):c.1598C>A (p.Ser533Tyr)
NM_144670.6(A2ML1):c.159G>A (p.Thr53=) rs767370461
NM_144670.6(A2ML1):c.159G>T (p.Thr53=)
NM_144670.6(A2ML1):c.1604T>C (p.Val535Ala)
NM_144670.6(A2ML1):c.1612_1616dup (p.Ile539fs) rs2136837411
NM_144670.6(A2ML1):c.1625G>A (p.Ser542Asn)
NM_144670.6(A2ML1):c.1628G>A (p.Gly543Glu)
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser) rs1032646451
NM_144670.6(A2ML1):c.1634T>A (p.Val545Asp)
NM_144670.6(A2ML1):c.1636del (p.Val545_Val546insTer)
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile) rs999028234
NM_144670.6(A2ML1):c.1656C>A (p.Phe552Leu)
NM_144670.6(A2ML1):c.1662C>T (p.Val554=)
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+13C>T
NM_144670.6(A2ML1):c.1683+14G>A
NM_144670.6(A2ML1):c.1683+270G>T rs116128689
NM_144670.6(A2ML1):c.1683+3A>G rs757399094
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His) rs1565476223
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.1684-285del rs569093906
NM_144670.6(A2ML1):c.1684-285dup rs569093906
NM_144670.6(A2ML1):c.1684-286_1684-285dup rs569093906
NM_144670.6(A2ML1):c.1684-287_1684-285del rs569093906
NM_144670.6(A2ML1):c.1684-288_1684-285del rs569093906
NM_144670.6(A2ML1):c.1684-47_1724dup rs1943731808
NM_144670.6(A2ML1):c.1684G>C (p.Val562Leu) rs750546906
NM_144670.6(A2ML1):c.1684G>T (p.Val562Phe)
NM_144670.6(A2ML1):c.1689C>T (p.Ser563=) rs1943733778
NM_144670.6(A2ML1):c.1691T>C (p.Leu564Pro)
NM_144670.6(A2ML1):c.169G>A (p.Glu57Lys)
NM_144670.6(A2ML1):c.1700C>G (p.Ser567Cys)
NM_144670.6(A2ML1):c.1703C>T (p.Pro568Leu)
NM_144670.6(A2ML1):c.171G>T (p.Glu57Asp) rs939451589
NM_144670.6(A2ML1):c.1723G>T (p.Ala575Ser)
NM_144670.6(A2ML1):c.1726G>C (p.Glu576Gln)
NM_144670.6(A2ML1):c.1730T>G (p.Val577Gly) rs917780860
NM_144670.6(A2ML1):c.1731G>C (p.Val577=) rs1943736223
NM_144670.6(A2ML1):c.1735C>T (p.Leu579=)
NM_144670.6(A2ML1):c.1738C>T (p.Gln580Ter) rs1943737106
NM_144670.6(A2ML1):c.1742T>C (p.Leu581Pro)
NM_144670.6(A2ML1):c.1749A>G (p.Ala583=) rs2136849695
NM_144670.6(A2ML1):c.1750G>A (p.Ala584Thr) rs1943737655
NM_144670.6(A2ML1):c.1753C>T (p.Pro585Ser) rs773327464
NM_144670.6(A2ML1):c.1758A>G (p.Gly586=)
NM_144670.6(A2ML1):c.1765T>C (p.Cys589Arg)
NM_144670.6(A2ML1):c.1767T>C (p.Cys589=)
NM_144670.6(A2ML1):c.1769C>A (p.Ala590Glu)
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.1777del (p.Ala593fs) rs758076462
NM_144670.6(A2ML1):c.1778C>T (p.Ala593Val) rs199779757
NM_144670.6(A2ML1):c.1779G>A (p.Ala593=)
NM_144670.6(A2ML1):c.1781T>C (p.Val594Ala)
NM_144670.6(A2ML1):c.1782G>A (p.Val594=)
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.1817A>G (p.Glu606Gly) rs1943742434
NM_144670.6(A2ML1):c.1824C>T (p.Ser608=)
NM_144670.6(A2ML1):c.1825A>C (p.Asn609His)
NM_144670.6(A2ML1):c.1826A>G (p.Asn609Ser)
NM_144670.6(A2ML1):c.1828C>G (p.Arg610Gly) rs375392265
NM_144670.6(A2ML1):c.1828C>T (p.Arg610Cys)
NM_144670.6(A2ML1):c.1829G>A (p.Arg610His)
NM_144670.6(A2ML1):c.1833+12_1833+15del
NM_144670.6(A2ML1):c.1833+207C>G rs7977933
NM_144670.6(A2ML1):c.1833+213T>C rs7301996
NM_144670.6(A2ML1):c.1833+305del rs11312111
NM_144670.6(A2ML1):c.1833+305dup rs11312111
NM_144670.6(A2ML1):c.1833+319_1833+320insTG rs59441350
NM_144670.6(A2ML1):c.1833+5G>A
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.1834-1G>T rs1943786459
NM_144670.6(A2ML1):c.1834-20_1887dup rs1943785430
NM_144670.6(A2ML1):c.1867T>G (p.Tyr623Asp)
NM_144670.6(A2ML1):c.1872C>A (p.Pro624=)
NM_144670.6(A2ML1):c.1887G>A (p.Glu629=)
NM_144670.6(A2ML1):c.1888_1891dup (p.Asp631delinsValTer) rs746882060
NM_144670.6(A2ML1):c.1894C>T (p.Gln632Ter)
NM_144670.6(A2ML1):c.1901C>T (p.Pro634Leu)
NM_144670.6(A2ML1):c.1902A>G (p.Pro634=) rs2136860232
NM_144670.6(A2ML1):c.1914A>G (p.Pro638=)
NM_144670.6(A2ML1):c.1917G>A (p.Trp639Ter) rs1362623763
NM_144670.6(A2ML1):c.1941C>T (p.Asp647=)
NM_144670.6(A2ML1):c.1949C>G (p.Pro650Arg)
NM_144670.6(A2ML1):c.1955G>A (p.Gly652Glu)
NM_144670.6(A2ML1):c.1961C>G (p.Ser654Trp)
NM_144670.6(A2ML1):c.1962G>C (p.Ser654=)
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.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.2009A>G (p.Asp670Gly)
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro) rs1465018225
NM_144670.6(A2ML1):c.2017A>G (p.Ser673Gly)
NM_144670.6(A2ML1):c.2018G>A (p.Ser673Asn)
NM_144670.6(A2ML1):c.2018G>C (p.Ser673Thr)
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.2029-10T>A rs2136866469
NM_144670.6(A2ML1):c.2029-19T>C
NM_144670.6(A2ML1):c.2029-276C>G rs11047578
NM_144670.6(A2ML1):c.2029-3C>G
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met) rs148198269
NM_144670.6(A2ML1):c.2049G>A (p.Leu683=)
NM_144670.6(A2ML1):c.2057C>G (p.Ala686Gly)
NM_144670.6(A2ML1):c.2063T>C (p.Ile688Thr)
NM_144670.6(A2ML1):c.2069A>C (p.Lys690Thr)
NM_144670.6(A2ML1):c.2079T>C (p.Asp693=)
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.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.2120-21_2120-20delinsCG
NM_144670.6(A2ML1):c.2120C>G (p.Ala707Gly)
NM_144670.6(A2ML1):c.2124C>T (p.Gly708=)
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.2136A>G (p.Pro712=)
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.2165A>G (p.His722Arg)
NM_144670.6(A2ML1):c.2180C>T (p.Ser727Phe)
NM_144670.6(A2ML1):c.2187C>T (p.Val729=)
NM_144670.6(A2ML1):c.218A>G (p.Lys73Arg)
NM_144670.6(A2ML1):c.2191C>T (p.Gln731Ter)
NM_144670.6(A2ML1):c.2199C>T (p.Phe733=) rs1943843473
NM_144670.6(A2ML1):c.2210G>A (p.Trp737Ter) rs1943843858
NM_144670.6(A2ML1):c.2211G>T (p.Trp737Cys)
NM_144670.6(A2ML1):c.2216G>T (p.Trp739Leu)
NM_144670.6(A2ML1):c.2217G>C (p.Trp739Cys)
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu) rs1565479896
NM_144670.6(A2ML1):c.2233G>T (p.Gly745Cys)
NM_144670.6(A2ML1):c.2234+12C>T
NM_144670.6(A2ML1):c.2234+2del
NM_144670.6(A2ML1):c.2234+5G>T
NM_144670.6(A2ML1):c.2235-18G>A
NM_144670.6(A2ML1):c.2235-3C>T
NM_144670.6(A2ML1):c.223C>A (p.His75Asn)
NM_144670.6(A2ML1):c.2240C>T (p.Ser747Leu)
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg) rs2136878186
NM_144670.6(A2ML1):c.2247G>A (p.Lys749=)
NM_144670.6(A2ML1):c.2251G>A (p.Ala751Thr)
NM_144670.6(A2ML1):c.2257C>T (p.His753Tyr)
NM_144670.6(A2ML1):c.225C>T (p.His75=)
NM_144670.6(A2ML1):c.2268T>A (p.Val756=) rs1313674301
NM_144670.6(A2ML1):c.2269C>T (p.Pro757Ser)
NM_144670.6(A2ML1):c.2274C>A (p.Asp758Glu) rs762980682
NM_144670.6(A2ML1):c.2277C>T (p.Ala759=)
NM_144670.6(A2ML1):c.2283C>T (p.Thr761=)
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.2301T>C (p.Ser767=) rs1592136589
NM_144670.6(A2ML1):c.2306G>A (p.Cys769Tyr) rs1205001818
NM_144670.6(A2ML1):c.2312C>T (p.Ser771Phe)
NM_144670.6(A2ML1):c.2314C>T (p.Gln772Ter)
NM_144670.6(A2ML1):c.2316G>C (p.Gln772His)
NM_144670.6(A2ML1):c.2342C>T (p.Thr781Ile) rs1482681901
NM_144670.6(A2ML1):c.2343T>C (p.Thr781=) rs1324138650
NM_144670.6(A2ML1):c.2344G>A (p.Val782Ile)
NM_144670.6(A2ML1):c.2360T>C (p.Phe787Ser) rs2136879278
NM_144670.6(A2ML1):c.2366C>T (p.Pro789Leu) rs1943905141
NM_144670.6(A2ML1):c.2368T>C (p.Phe790Leu)
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.240C>T (p.Ser80=) rs79315547
NM_144670.6(A2ML1):c.2415C>G (p.Ser805=)
NM_144670.6(A2ML1):c.2419C>T (p.Arg807Cys)
NM_144670.6(A2ML1):c.2428G>A (p.Ala810Thr) rs863224954
NM_144670.6(A2ML1):c.2430C>T (p.Ala810=)
NM_144670.6(A2ML1):c.2439C>T (p.Phe813=) rs2136879942
NM_144670.6(A2ML1):c.2455T>G (p.Cys819Gly) rs1161488755
NM_144670.6(A2ML1):c.246+5G>A
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+13G>A rs151032368
NM_144670.6(A2ML1):c.2463+7G>A
NM_144670.6(A2ML1):c.2463G>T (p.Arg821Ser) rs1943910170
NM_144670.6(A2ML1):c.2464-5C>T rs1473312242
NM_144670.6(A2ML1):c.247-12T>C rs1366340701
NM_144670.6(A2ML1):c.247-3C>G
NM_144670.6(A2ML1):c.247-6G>C
NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs) rs863224951
NM_144670.6(A2ML1):c.2487G>T (p.Ser829=)
NM_144670.6(A2ML1):c.2490T>C (p.His830=)
NM_144670.6(A2ML1):c.2495A>G (p.Tyr832Cys)
NM_144670.6(A2ML1):c.2508A>G (p.Ser836=)
NM_144670.6(A2ML1):c.2509T>C (p.Trp837Arg) rs1439490873
NM_144670.6(A2ML1):c.250C>G (p.Pro84Ala)
NM_144670.6(A2ML1):c.2515G>C (p.Asp839His)
NM_144670.6(A2ML1):c.2519C>A (p.Ser840Tyr)
NM_144670.6(A2ML1):c.251C>T (p.Pro84Leu)
NM_144670.6(A2ML1):c.2521C>T (p.Gln841Ter) rs2136881581
NM_144670.6(A2ML1):c.2526C>G (p.Thr842=)
NM_144670.6(A2ML1):c.2527T>G (p.Ser843Ala) rs1943919317
NM_144670.6(A2ML1):c.2530del (p.Ser844fs) rs2136881657
NM_144670.6(A2ML1):c.2537T>C (p.Leu846Pro)
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr) rs1408810942
NM_144670.6(A2ML1):c.2574C>G (p.Ile858Met)
NM_144670.6(A2ML1):c.257C>T (p.Pro86Leu)
NM_144670.6(A2ML1):c.2585A>T (p.Lys862Ile)
NM_144670.6(A2ML1):c.2587T>C (p.Leu863=) rs746960070
NM_144670.6(A2ML1):c.2590+1G>A
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.2591G>A (p.Gly864Asp) rs1943980987
NM_144670.6(A2ML1):c.2601C>G (p.Asn867Lys)
NM_144670.6(A2ML1):c.2607T>C (p.Thr869=)
NM_144670.6(A2ML1):c.2608A>G (p.Ile870Val) rs1943981721
NM_144670.6(A2ML1):c.2615C>T (p.Thr872Ile)
NM_144670.6(A2ML1):c.2617A>G (p.Lys873Glu)
NM_144670.6(A2ML1):c.2623C>T (p.Leu875=)
NM_144670.6(A2ML1):c.2628C>T (p.Asp876=)
NM_144670.6(A2ML1):c.2630_2633del (p.Ser877fs)
NM_144670.6(A2ML1):c.2638C>T (p.Pro880Ser)
NM_144670.6(A2ML1):c.2641T>C (p.Cys881Arg) rs2136894115
NM_144670.6(A2ML1):c.2644G>A (p.Gly882Arg)
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.2664T>A (p.Val888=) rs751324491
NM_144670.6(A2ML1):c.2670A>G (p.Gln890=) rs767309974
NM_144670.6(A2ML1):c.2687C>T (p.Thr896Met)
NM_144670.6(A2ML1):c.2688G>A (p.Thr896=)
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+16del rs1555113735
NM_144670.6(A2ML1):c.2712+3G>A
NM_144670.6(A2ML1):c.2713-11C>A
NM_144670.6(A2ML1):c.2713-147_2713-132del rs6144605
NM_144670.6(A2ML1):c.2716G>A (p.Glu906Lys)
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs) rs560609581
NM_144670.6(A2ML1):c.2724C>T (p.Val908=)
NM_144670.6(A2ML1):c.2728G>A (p.Val910Met)
NM_144670.6(A2ML1):c.272AAG[1] (p.Glu92del)
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.2752C>A (p.Leu918Met) rs1944005605
NM_144670.6(A2ML1):c.2753T>G (p.Leu918Arg)
NM_144670.6(A2ML1):c.2756G>T (p.Cys919Phe)
NM_144670.6(A2ML1):c.2758C>G (p.Pro920Ala)
NM_144670.6(A2ML1):c.2764+1G>A
NM_144670.6(A2ML1):c.2764+20del rs764632191
NM_144670.6(A2ML1):c.2764+80_2764+81dup rs397850452
NM_144670.6(A2ML1):c.2764+81dup rs397850452
NM_144670.6(A2ML1):c.2764G>T (p.Gly922Ter)
NM_144670.6(A2ML1):c.2765-21C>A rs189298097
NM_144670.6(A2ML1):c.2769G>A (p.Lys923=)
NM_144670.6(A2ML1):c.2775A>T (p.Ala925=)
NM_144670.6(A2ML1):c.2782T>C (p.Ser928Pro)
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.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.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.2834A>G (p.Tyr945Cys)
NM_144670.6(A2ML1):c.2840C>A (p.Thr947Lys)
NM_144670.6(A2ML1):c.2848+106A>C rs112974204
NM_144670.6(A2ML1):c.2848+19T>C
NM_144670.6(A2ML1):c.2849-10T>A rs774394683
NM_144670.6(A2ML1):c.2849-19C>G rs2136912170
NM_144670.6(A2ML1):c.2849-248_2849-247del rs71891886
NM_144670.6(A2ML1):c.2849-248_2849-247dup rs71891886
NM_144670.6(A2ML1):c.2849-249_2849-247del rs71891886
NM_144670.6(A2ML1):c.2849-250_2849-247del rs71891886
NM_144670.6(A2ML1):c.2849-253_2849-247del rs71891886
NM_144670.6(A2ML1):c.2849G>A (p.Gly950Glu) rs267603716
NM_144670.6(A2ML1):c.2860G>T (p.Gly954Cys)
NM_144670.6(A2ML1):c.2862C>T (p.Gly954=)
NM_144670.6(A2ML1):c.2866G>A (p.Ala956Thr)
NM_144670.6(A2ML1):c.2872C>A (p.Gln958Lys)
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>G (p.Arg97Gly) rs199701571
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.290_384dup (p.Pro129delinsGlyCysArgGluLeuGluIleThrSerAlaLeuArgArgArgLysArgPheTer) rs1942828214
NM_144670.6(A2ML1):c.2911G>T (p.Gly971Cys)
NM_144670.6(A2ML1):c.2914G>T (p.Glu972Ter) rs760545562
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.2971G>C (p.Ala991Pro) rs1565484901
NM_144670.6(A2ML1):c.2985G>C (p.Thr995=)
NM_144670.6(A2ML1):c.2986GAG[1] (p.Glu997del)
NM_144670.6(A2ML1):c.2997G>A (p.Arg999=) rs1198210321
NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter) rs2136691291
NM_144670.6(A2ML1):c.3005C>T (p.Ala1002Val) rs893125031
NM_144670.6(A2ML1):c.3007G>C (p.Val1003Leu) rs2136913749
NM_144670.6(A2ML1):c.3025+20C>T
NM_144670.6(A2ML1):c.3025+3A>G
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.3026G>A (p.Gly1009Glu)
NM_144670.6(A2ML1):c.3046T>G (p.Tyr1016Asp)
NM_144670.6(A2ML1):c.3051A>G (p.Lys1017=)
NM_144670.6(A2ML1):c.3058A>G (p.Asn1020Asp)
NM_144670.6(A2ML1):c.3065C>T (p.Ser1022Leu)
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.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.3127A>C (p.Lys1043Gln)
NM_144670.6(A2ML1):c.3138C>T (p.Gly1046=)
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.3183T>C (p.Asp1061=)
NM_144670.6(A2ML1):c.3186T>C (p.Ala1062=)
NM_144670.6(A2ML1):c.3203G>A (p.Gly1068Glu)
NM_144670.6(A2ML1):c.3213C>T (p.Leu1071=)
NM_144670.6(A2ML1):c.3218G>C (p.Ser1073Thr)
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.3264+7A>C
NM_144670.6(A2ML1):c.3269G>T (p.Gly1090Val)
NM_144670.6(A2ML1):c.3273TGA[2] (p.Asp1093del)
NM_144670.6(A2ML1):c.3281A>G (p.Glu1094Gly) rs1944236208
NM_144670.6(A2ML1):c.3286T>C (p.Ser1096Pro)
NM_144670.6(A2ML1):c.3287C>T (p.Ser1096Phe) rs483352824
NM_144670.6(A2ML1):c.3292A>G (p.Thr1098Ala) rs1944236841
NM_144670.6(A2ML1):c.3294T>G (p.Thr1098=) rs764429289
NM_144670.6(A2ML1):c.3296C>T (p.Ala1099Val) rs751968824
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.3314T>C (p.Leu1105Ser)
NM_144670.6(A2ML1):c.3318G>A (p.Leu1106=)
NM_144670.6(A2ML1):c.3322A>T (p.Met1108Leu)
NM_144670.6(A2ML1):c.3334G>A (p.Val1112Ile)
NM_144670.6(A2ML1):c.3335T>C (p.Val1112Ala)
NM_144670.6(A2ML1):c.3337G>A (p.Asp1113Asn) rs2136930113
NM_144670.6(A2ML1):c.3339+11C>T
NM_144670.6(A2ML1):c.3339+1G>T
NM_144670.6(A2ML1):c.3340-3T>G
NM_144670.6(A2ML1):c.3346A>C (p.Met1116Leu) rs79889829
NM_144670.6(A2ML1):c.3346A>G (p.Met1116Val) rs79889829
NM_144670.6(A2ML1):c.3346A>T (p.Met1116Leu)
NM_144670.6(A2ML1):c.3358G>A (p.Gly1120Ser)
NM_144670.6(A2ML1):c.3359G>A (p.Gly1120Asp)
NM_144670.6(A2ML1):c.3359G>T (p.Gly1120Val)
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.3386C>T (p.Thr1129Ile)
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.340C>G (p.Leu114Val)
NM_144670.6(A2ML1):c.3414C>T (p.Ala1138=)
NM_144670.6(A2ML1):c.3417G>A (p.Leu1139=)
NM_144670.6(A2ML1):c.3422C>G (p.Ala1141Gly)
NM_144670.6(A2ML1):c.3427_3430dup (p.Phe1144fs)
NM_144670.6(A2ML1):c.342A>C (p.Leu114=) rs2136697884
NM_144670.6(A2ML1):c.3430T>C (p.Phe1144Leu) rs1198962521
NM_144670.6(A2ML1):c.3431del (p.Phe1144fs) rs776004500
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
NM_144670.6(A2ML1):c.3434C>T (p.Ser1145Phe) rs768331924
NM_144670.6(A2ML1):c.3439G>A (p.Ala1147Thr)
NM_144670.6(A2ML1):c.3447A>G (p.Glu1149=)
NM_144670.6(A2ML1):c.3454A>G (p.Ile1152Val)
NM_144670.6(A2ML1):c.3462C>T (p.Asn1154=)
NM_144670.6(A2ML1):c.3466C>T (p.Leu1156Phe)
NM_144670.6(A2ML1):c.3475_3476del (p.Gln1159fs) rs2136931820
NM_144670.6(A2ML1):c.3477G>A (p.Gln1159=)
NM_144670.6(A2ML1):c.3488A>T (p.Gln1163Leu) rs1944253824
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val) rs1565487941
NM_144670.6(A2ML1):c.3492_3495dup (p.Ile1166fs) rs1199328904
NM_144670.6(A2ML1):c.3493A>G (p.Ile1165Val)
NM_144670.6(A2ML1):c.3497T>C (p.Ile1166Thr) rs2136932050
NM_144670.6(A2ML1):c.3502+5G>A
NM_144670.6(A2ML1):c.3503-119del rs140207305
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.3503G>C (p.Gly1168Ala)
NM_144670.6(A2ML1):c.3509C>T (p.Ser1170Phe) rs1944348517
NM_144670.6(A2ML1):c.3510C>A (p.Ser1170=) rs1060504130
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.3534T>A (p.Thr1178=)
NM_144670.6(A2ML1):c.3540A>G (p.Ser1180=)
NM_144670.6(A2ML1):c.3548C>T (p.Ala1183Val)
NM_144670.6(A2ML1):c.3554C>G (p.Pro1185Arg) rs942636799
NM_144670.6(A2ML1):c.3559T>G (p.Ser1187Ala)
NM_144670.6(A2ML1):c.3570G>A (p.Ala1190=)
NM_144670.6(A2ML1):c.3577G>C (p.Asp1193His)
NM_144670.6(A2ML1):c.3603G>C (p.Leu1201Phe)
NM_144670.6(A2ML1):c.360C>T (p.Asn120=)
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.363C>T (p.Gly121=)
NM_144670.6(A2ML1):c.3646G>C (p.Ala1216Pro) rs1019595713
NM_144670.6(A2ML1):c.3660C>T (p.Ser1220=)
NM_144670.6(A2ML1):c.3668C>T (p.Ala1223Val)
NM_144670.6(A2ML1):c.3669T>C (p.Ala1223=)
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.3678C>A (p.Ala1226=)
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.3693A>C (p.Ala1231=)
NM_144670.6(A2ML1):c.3695A>G (p.Tyr1232Cys)
NM_144670.6(A2ML1):c.36A>G (p.Leu12=)
NM_144670.6(A2ML1):c.3701del (p.Gly1234fs)
NM_144670.6(A2ML1):c.3707C>T (p.Ser1236Phe)
NM_144670.6(A2ML1):c.3717+17C>T rs2136944295
NM_144670.6(A2ML1):c.3717+19C>T
NM_144670.6(A2ML1):c.3717+203del rs57329358
NM_144670.6(A2ML1):c.3717+252C>A rs61919497
NM_144670.6(A2ML1):c.3717+279C>T rs529270444
NM_144670.6(A2ML1):c.3717+3A>C
NM_144670.6(A2ML1):c.3718-13T>G rs2136956715
NM_144670.6(A2ML1):c.3718-16_3791dup rs1944470043
NM_144670.6(A2ML1):c.3718-182del rs11349715
NM_144670.6(A2ML1):c.3718-19G>T
NM_144670.6(A2ML1):c.3718-2del rs2136956753
NM_144670.6(A2ML1):c.3718-6C>T rs1944470448
NM_144670.6(A2ML1):c.3723T>G (p.Thr1241=)
NM_144670.6(A2ML1):c.3725T>C (p.Val1242Ala)
NM_144670.6(A2ML1):c.3730G>T (p.Ala1244Ser)
NM_144670.6(A2ML1):c.3732T>A (p.Ala1244=)
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.3756C>G (p.Ala1252=) rs749652025
NM_144670.6(A2ML1):c.3757A>T (p.Thr1253Ser)
NM_144670.6(A2ML1):c.3762C>T (p.Thr1254=)
NM_144670.6(A2ML1):c.3763G>A (p.Ala1255Thr)
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.376A>G (p.Thr126Ala)
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.3786C>T (p.Ile1262=) rs1944473926
NM_144670.6(A2ML1):c.3797dup (p.Ser1268fs) rs1488712517
NM_144670.6(A2ML1):c.3804C>G (p.Ser1268=) rs878855211
NM_144670.6(A2ML1):c.3825A>T (p.Thr1275=)
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.3849A>T (p.Arg1283Ser)
NM_144670.6(A2ML1):c.3853G>T (p.Val1285Leu)
NM_144670.6(A2ML1):c.3886G>A (p.Gly1296Arg) rs760857113
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.3909A>G (p.Ser1303=)
NM_144670.6(A2ML1):c.390C>G (p.Leu130=)
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.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.3971T>C (p.Met1324Thr)
NM_144670.6(A2ML1):c.3971T>G (p.Met1324Arg) rs1341976356
NM_144670.6(A2ML1):c.3987T>C (p.Leu1329=)
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.4058C>T (p.Thr1353Ile)
NM_144670.6(A2ML1):c.4061+15G>A
NM_144670.6(A2ML1):c.4061+16G>A rs200962359
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_144670.6(A2ML1):c.4061+3G>A
NM_144670.6(A2ML1):c.4062-20T>C
NM_144670.6(A2ML1):c.4062-5C>T
NM_144670.6(A2ML1):c.4062-79GT[10] rs3079166
NM_144670.6(A2ML1):c.4062-79GT[11] rs3079166
NM_144670.6(A2ML1):c.4062-79GT[12] rs3079166
NM_144670.6(A2ML1):c.4065T>C (p.Tyr1355=)
NM_144670.6(A2ML1):c.4074C>G (p.Ser1358Arg) rs1229057255
NM_144670.6(A2ML1):c.4075C>A (p.Arg1359Ser)
NM_144670.6(A2ML1):c.4077T>C (p.Arg1359=) rs1592156593
NM_144670.6(A2ML1):c.4085C>A (p.Ser1362Tyr) rs1944508896
NM_144670.6(A2ML1):c.4086C>T (p.Ser1362=)
NM_144670.6(A2ML1):c.4088A>G (p.Asn1363Ser)
NM_144670.6(A2ML1):c.409+13T>C
NM_144670.6(A2ML1):c.4098dup (p.Val1367fs) rs1944509959
NM_144670.6(A2ML1):c.410-15C>G
NM_144670.6(A2ML1):c.410-51del rs778132993
NM_144670.6(A2ML1):c.410-51dup rs778132993
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.410-54_410-51del rs778132993
NM_144670.6(A2ML1):c.4105G>T (p.Val1369Leu) rs755052089
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.4138G>A (p.Gly1380Ser)
NM_144670.6(A2ML1):c.4139G>T (p.Gly1380Val)
NM_144670.6(A2ML1):c.4143C>T (p.Thr1381=)
NM_144670.6(A2ML1):c.4145A>G (p.Asn1382Ser)
NM_144670.6(A2ML1):c.4152+8A>G rs747413216
NM_144670.6(A2ML1):c.4152+94AC[8] rs35111062
NM_144670.6(A2ML1):c.4153-17del
NM_144670.6(A2ML1):c.4166C>G (p.Pro1389Arg)
NM_144670.6(A2ML1):c.4167C>T (p.Pro1389=)
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.4199C>T (p.Thr1400Ile)
NM_144670.6(A2ML1):c.4206C>T (p.Asn1402=)
NM_144670.6(A2ML1):c.4207A>T (p.Ile1403Phe)
NM_144670.6(A2ML1):c.4208T>C (p.Ile1403Thr)
NM_144670.6(A2ML1):c.4211A>G (p.Tyr1404Cys)
NM_144670.6(A2ML1):c.4218T>A (p.Asp1406Glu)
NM_144670.6(A2ML1):c.4221+16C>T
NM_144670.6(A2ML1):c.4221+247_4221+248del rs34599388
NM_144670.6(A2ML1):c.4221+2dup
NM_144670.6(A2ML1):c.4221+6T>G
NM_144670.6(A2ML1):c.4222-11C>G
NM_144670.6(A2ML1):c.4234A>T (p.Thr1412Ser)
NM_144670.6(A2ML1):c.423T>C (p.Ile141=) rs1592103349
NM_144670.6(A2ML1):c.4248C>A (p.Thr1416=)
NM_144670.6(A2ML1):c.424G>A (p.Val142Ile) rs1943049475
NM_144670.6(A2ML1):c.4254C>T (p.Thr1418=)
NM_144670.6(A2ML1):c.4267_4274del (p.Val1423fs) rs2136995495
NM_144670.6(A2ML1):c.4277C>A (p.Thr1426Asn)
NM_144670.6(A2ML1):c.4280A>G (p.Asn1427Ser)
NM_144670.6(A2ML1):c.4281C>T (p.Asn1427=)
NM_144670.6(A2ML1):c.4288C>T (p.Pro1430Ser)
NM_144670.6(A2ML1):c.4292C>T (p.Ala1431Val) rs863224955
NM_144670.6(A2ML1):c.4295C>G (p.Thr1432Ser)
NM_144670.6(A2ML1):c.4296C>A (p.Thr1432=)
NM_144670.6(A2ML1):c.4305C>G (p.Val1435=)
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.4325-9A>G
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.4341T>A (p.Ile1447=) rs1592164861
NM_144670.6(A2ML1):c.4356C>T (p.Pro1452=)
NM_144670.6(A2ML1):c.4358G>A (p.Cys1453Tyr)
NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp) rs1942780601
NM_144670.6(A2ML1):c.460A>G (p.Lys154Glu) rs1943050288
NM_144670.6(A2ML1):c.462+10G>A rs2136729288
NM_144670.6(A2ML1):c.462+16G>A
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+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.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.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.479T>C (p.Leu160Pro) rs769954501
NM_144670.6(A2ML1):c.481C>G (p.Gln161Glu) rs1412258468
NM_144670.6(A2ML1):c.483+272T>C rs4883187
NM_144670.6(A2ML1):c.484-9A>G
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.523G>A (p.Val175Ile)
NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)
NM_144670.6(A2ML1):c.52GAA[1] (p.Glu19del)
NM_144670.6(A2ML1):c.536G>A (p.Gly179Asp)
NM_144670.6(A2ML1):c.539T>C (p.Ile180Thr)
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.565C>G (p.Pro189Ala)
NM_144670.6(A2ML1):c.576G>C (p.Met192Ile) rs2136761632
NM_144670.6(A2ML1):c.581G>A (p.Gly194Asp)
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.601G>T (p.Ala201Ser)
NM_144670.6(A2ML1):c.614C>T (p.Thr205Ile) rs1478678570
NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg) rs11047499
NM_144670.6(A2ML1):c.619G>T (p.Gly207Cys) rs11047499
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.62+9T>C
NM_144670.6(A2ML1):c.623C>T (p.Thr208Ile)
NM_144670.6(A2ML1):c.63-6del rs1463624612
NM_144670.6(A2ML1):c.630T>G (p.Ser210Arg) rs1565466561
NM_144670.6(A2ML1):c.631G>A (p.Val211Met)
NM_144670.6(A2ML1):c.634G>T (p.Glu212Ter)
NM_144670.6(A2ML1):c.635A>G (p.Glu212Gly)
NM_144670.6(A2ML1):c.637G>A (p.Glu213Lys)
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.644-221del rs753902128
NM_144670.6(A2ML1):c.644-221dup rs753902128
NM_144670.6(A2ML1):c.644-222_644-221del rs753902128
NM_144670.6(A2ML1):c.644-243C>A rs1029534477
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.681G>A (p.Lys227=) rs748686815
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.69C>T (p.Tyr23=)
NM_144670.6(A2ML1):c.701A>G (p.Glu234Gly)
NM_144670.6(A2ML1):c.702A>T (p.Glu234Asp)
NM_144670.6(A2ML1):c.70C>G (p.Leu24Val) rs1185230247
NM_144670.6(A2ML1):c.714A>T (p.Val238=)
NM_144670.6(A2ML1):c.721T>G (p.Cys241Gly)
NM_144670.6(A2ML1):c.728+161del rs751110394
NM_144670.6(A2ML1):c.728+161dup rs751110394
NM_144670.6(A2ML1):c.728+17G>C
NM_144670.6(A2ML1):c.728+8C>T
NM_144670.6(A2ML1):c.729-120A>G rs11047510
NM_144670.6(A2ML1):c.729-5G>A rs1259899609
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.747C>T (p.Pro249=)
NM_144670.6(A2ML1):c.74T>C (p.Val25Ala)
NM_144670.6(A2ML1):c.755G>A (p.Gly252Glu) rs1943320436
NM_144670.6(A2ML1):c.763C>T (p.Gln255Ter) rs863224952
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.799T>A (p.Tyr267Asn)
NM_144670.6(A2ML1):c.802C>G (p.Arg268Gly)
NM_144670.6(A2ML1):c.802C>T (p.Arg268Ter)
NM_144670.6(A2ML1):c.810G>A (p.Val270=) rs2136775064
NM_144670.6(A2ML1):c.811G>A (p.Glu271Lys)
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+342_855+343del rs151300022
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.860A>G (p.Asp287Gly)
NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu) rs61921916
NM_144670.6(A2ML1):c.861C>T (p.Asp287=) rs61921916
NM_144670.6(A2ML1):c.868G>A (p.Gly290Arg) rs2136781223
NM_144670.6(A2ML1):c.868G>C (p.Gly290Arg)
NM_144670.6(A2ML1):c.871T>C (p.Cys291Arg)
NM_144670.6(A2ML1):c.882A>G (p.Ala294=) rs1292512117
NM_144670.6(A2ML1):c.888G>A (p.Val296=)
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.906C>A (p.Asp302Glu)
NM_144670.6(A2ML1):c.918T>A (p.Tyr306Ter) rs2136782038
NM_144670.6(A2ML1):c.921G>C (p.Ala307=) rs372520121
NM_144670.6(A2ML1):c.924C>T (p.Tyr308=)
NM_144670.6(A2ML1):c.931C>G (p.Gln311Glu) rs1440325153
NM_144670.6(A2ML1):c.933A>G (p.Gln311=)
NM_144670.6(A2ML1):c.941T>C (p.Ile314Thr)
NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser) rs889804273
NM_144670.6(A2ML1):c.952G>A (p.Val318Ile)
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.970+16C>T
NM_144670.6(A2ML1):c.970+318C>T rs7969994
NM_144670.6(A2ML1):c.970G>T (p.Gly324Cys) rs1943358684
NM_144670.6(A2ML1):c.971-177del rs11314317
NM_144670.6(A2ML1):c.971-177dup rs11314317
NM_144670.6(A2ML1):c.971-18T>A
NM_144670.6(A2ML1):c.971-211G>A rs56766736
NM_144670.6(A2ML1):c.971-2A>G rs2136786580
NM_144670.6(A2ML1):c.971G>A (p.Gly324Asp)
NM_144670.6(A2ML1):c.975G>A (p.Val325=) rs1414148497
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.992A>T (p.Gln331Leu)
NM_144670.6(A2ML1):c.993G>C (p.Gln331His)

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