NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile)
|
rs368114048
|
0.00016
|
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser)
|
rs780009431
|
0.00015
|
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu)
|
rs373823890
|
0.00006
|
NM_144670.6(A2ML1):c.1081-2A>G
|
rs377270924
|
0.00004
|
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser)
|
rs758716034
|
0.00004
|
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp)
|
rs748309907
|
0.00004
|
NM_144670.6(A2ML1):c.375G>T (p.Gln125His)
|
rs377484849
|
0.00004
|
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln)
|
rs764536586
|
0.00003
|
NM_144670.6(A2ML1):c.1833+10T>C
|
rs753086817
|
0.00003
|
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser)
|
rs372562512
|
0.00003
|
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg)
|
rs1253780933
|
0.00003
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
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.2276C>T (p.Ala759Val)
|
rs774472456
|
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.3105A>G (p.Thr1035=)
|
rs201335448
|
0.00002
|
NM_144670.6(A2ML1):c.3933+4A>G
|
rs779680238
|
0.00002
|
NM_144670.6(A2ML1):c.409+1G>A
|
rs1454374124
|
0.00002
|
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val)
|
rs775772721
|
0.00002
|
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.1370G>A (p.Arg457Gln)
|
rs765417831
|
0.00001
|
NM_144670.6(A2ML1):c.1683+6A>G
|
rs370846070
|
0.00001
|
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu)
|
rs187676229
|
0.00001
|
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys)
|
rs369633399
|
0.00001
|
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp)
|
rs778855832
|
0.00001
|
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe)
|
rs1435627448
|
0.00001
|
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn)
|
rs754026014
|
0.00001
|
NM_144670.6(A2ML1):c.2712+12T>A
|
rs774960083
|
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.4221+17C>T
|
rs772852256
|
0.00001
|
NM_144670.6(A2ML1):c.4221+2T>C
|
rs959378735
|
0.00001
|
NM_144670.6(A2ML1):c.540T>G (p.Ile180Met)
|
rs377551636
|
0.00001
|
NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu)
|
rs771087097
|
0.00001
|
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile)
|
rs1482427203
|
0.00001
|
NM_144670.6(A2ML1):c.970+13C>T
|
rs748203389
|
0.00001
|
NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del
|
|
|
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.1248+10G>A
|
|
|
NM_144670.6(A2ML1):c.1249-19_1319dup
|
rs1943546023
|
|
NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer)
|
rs1942804878
|
|
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His)
|
rs376035211
|
|
NM_144670.6(A2ML1):c.1423T>A (p.Tyr475Asn)
|
|
|
NM_144670.6(A2ML1):c.1475A>G (p.Tyr492Cys)
|
rs1943556876
|
|
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser)
|
rs1032646451
|
|
NM_144670.6(A2ML1):c.1656C>A (p.Phe552Leu)
|
|
|
NM_144670.6(A2ML1):c.1684-47_1724dup
|
rs1943731808
|
|
NM_144670.6(A2ML1):c.1730T>G (p.Val577Gly)
|
rs917780860
|
|
NM_144670.6(A2ML1):c.1750G>A (p.Ala584Thr)
|
rs1943737655
|
|
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu)
|
rs200673370
|
|
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs)
|
rs779516620
|
|
NM_144670.6(A2ML1):c.1828C>G (p.Arg610Gly)
|
rs375392265
|
|
NM_144670.6(A2ML1):c.1834-1G>T
|
rs1943786459
|
|
NM_144670.6(A2ML1):c.1834-20_1887dup
|
rs1943785430
|
|
NM_144670.6(A2ML1):c.1955G>A (p.Gly652Glu)
|
|
|
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met)
|
rs148198269
|
|
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg)
|
rs2136878186
|
|
NM_144670.6(A2ML1):c.2257C>T (p.His753Tyr)
|
|
|
NM_144670.6(A2ML1):c.2366C>T (p.Pro789Leu)
|
rs1943905141
|
|
NM_144670.6(A2ML1):c.2463+13G>A
|
rs151032368
|
|
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile)
|
rs1416944345
|
|
NM_144670.6(A2ML1):c.2716G>A (p.Glu906Lys)
|
|
|
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met)
|
rs1944005605
|
|
NM_144670.6(A2ML1):c.290_384dup (p.Pro129delinsGlyCysArgGluLeuGluIleThrSerAlaLeuArgArgArgLysArgPheTer)
|
rs1942828214
|
|
NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter)
|
rs2136691291
|
|
NM_144670.6(A2ML1):c.3007G>C (p.Val1003Leu)
|
rs2136913749
|
|
NM_144670.6(A2ML1):c.3108-11T>C
|
|
|
NM_144670.6(A2ML1):c.3264+4C>T
|
|
|
NM_144670.6(A2ML1):c.3296C>T (p.Ala1099Val)
|
rs751968824
|
|
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
|
|
|
NM_144670.6(A2ML1):c.3434C>T (p.Ser1145Phe)
|
rs768331924
|
|
NM_144670.6(A2ML1):c.3718-16_3791dup
|
rs1944470043
|
|
NM_144670.6(A2ML1):c.3718-6C>T
|
rs1944470448
|
|
NM_144670.6(A2ML1):c.3886G>A (p.Gly1296Arg)
|
rs760857113
|
|
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr)
|
|
|
NM_144670.6(A2ML1):c.3971T>G (p.Met1324Arg)
|
rs1341976356
|
|
NM_144670.6(A2ML1):c.4061+16G>A
|
rs200962359
|
|
NM_144670.6(A2ML1):c.4061+1G>C
|
rs202067416
|
|
NM_144670.6(A2ML1):c.4088A>G (p.Asn1363Ser)
|
|
|
NM_144670.6(A2ML1):c.409+13T>C
|
|
|
NM_144670.6(A2ML1):c.4105G>T (p.Val1369Leu)
|
rs755052089
|
|
NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp)
|
rs1942780601
|
|
NM_144670.6(A2ML1):c.462+16G>A
|
|
|
NM_144670.6(A2ML1):c.462+2T>C
|
rs201877710
|
|
NM_144670.6(A2ML1):c.479T>C (p.Leu160Pro)
|
rs769954501
|
|
NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)
|
|
|
NM_144670.6(A2ML1):c.63-6del
|
rs1463624612
|
|
NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser)
|
rs889804273
|
|