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)
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rs2136782038
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NM_144670.6(A2ML1):c.921G>C (p.Ala307=)
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rs372520121
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NM_144670.6(A2ML1):c.924C>T (p.Tyr308=)
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NM_144670.6(A2ML1):c.931C>G (p.Gln311Glu)
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rs1440325153
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NM_144670.6(A2ML1):c.933A>G (p.Gln311=)
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NM_144670.6(A2ML1):c.941T>C (p.Ile314Thr)
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NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser)
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rs889804273
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NM_144670.6(A2ML1):c.952G>A (p.Val318Ile)
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NM_144670.6(A2ML1):c.957G>A (p.Val319=)
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rs1943357879
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NM_144670.6(A2ML1):c.964G>C (p.Gly322Arg)
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NM_144670.6(A2ML1):c.965G>A (p.Gly322Glu)
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rs1943358225
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NM_144670.6(A2ML1):c.967A>T (p.Thr323Ser)
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NM_144670.6(A2ML1):c.970+16C>T
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NM_144670.6(A2ML1):c.970+318C>T
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rs7969994
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NM_144670.6(A2ML1):c.970G>T (p.Gly324Cys)
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rs1943358684
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NM_144670.6(A2ML1):c.971-177del
|
rs11314317
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NM_144670.6(A2ML1):c.971-177dup
|
rs11314317
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NM_144670.6(A2ML1):c.971-18T>A
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NM_144670.6(A2ML1):c.971-211G>A
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rs56766736
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NM_144670.6(A2ML1):c.971-2A>G
|
rs2136786580
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NM_144670.6(A2ML1):c.971G>A (p.Gly324Asp)
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NM_144670.6(A2ML1):c.975G>A (p.Val325=)
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rs1414148497
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NM_144670.6(A2ML1):c.976G>A (p.Glu326Lys)
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NM_144670.6(A2ML1):c.977A>G (p.Glu326Gly)
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NM_144670.6(A2ML1):c.97T>C (p.Phe33Leu)
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NM_144670.6(A2ML1):c.97T>G (p.Phe33Val)
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NM_144670.6(A2ML1):c.983A>G (p.Asn328Ser)
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NM_144670.6(A2ML1):c.992A>T (p.Gln331Leu)
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NM_144670.6(A2ML1):c.993G>C (p.Gln331His)
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