NM_000182.5(HADHA):c.573+32T>C
|
rs7593175
|
0.61061
|
NM_000182.5(HADHA):c.573+26G>C
|
rs35746418
|
0.17547
|
NM_000182.5(HADHA):c.67+51G>T
|
rs62128457
|
0.17544
|
NM_000182.5(HADHA):c.180+69G>C
|
rs2303892
|
0.17014
|
NM_000182.5(HADHA):c.474C>T (p.Tyr158=)
|
rs11552518
|
0.16973
|
NM_000182.5(HADHA):c.68-82T>A
|
rs12987980
|
0.16953
|
NM_000182.5(HADHA):c.315-44A>C
|
rs3892649
|
0.16834
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
NM_000182.5(HADHA):c.109+20A>G
|
rs7569108
|
0.01898
|
NM_000182.5(HADHA):c.573+8dup
|
rs112196218
|
0.00584
|
NM_000182.5(HADHA):c.68-10T>G
|
rs144414842
|
0.00403
|
NM_000182.5(HADHA):c.-25C>G
|
rs184300489
|
0.00274
|
NM_000182.5(HADHA):c.-1G>T
|
rs72809666
|
0.00211
|
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
|
rs116320983
|
0.00091
|
NM_000182.5(HADHA):c.809C>T (p.Ala270Val)
|
rs141429393
|
0.00061
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
NM_000182.5(HADHA):c.567C>T (p.Pro189=)
|
rs183297747
|
0.00047
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
NM_000182.5(HADHA):c.315-12T>C
|
rs531815564
|
0.00029
|
NM_000182.5(HADHA):c.864A>G (p.Glu288=)
|
rs372425837
|
0.00020
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
NM_000182.5(HADHA):c.68-13T>C
|
rs182123964
|
0.00013
|
NM_000182.5(HADHA):c.1085+17G>A
|
rs183045060
|
0.00012
|
NM_000182.5(HADHA):c.872G>A (p.Arg291Gln)
|
rs143414408
|
0.00011
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00010
|
NM_000182.5(HADHA):c.918+19T>C
|
rs372010520
|
0.00009
|
NM_000182.5(HADHA):c.513C>A (p.Thr171=)
|
rs139043179
|
0.00007
|
NM_000182.5(HADHA):c.816C>A (p.Ala272=)
|
rs764851270
|
0.00006
|
NM_000182.5(HADHA):c.975+6C>T
|
rs766717752
|
0.00006
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg)
|
rs754673524
|
0.00005
|
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys)
|
rs769821069
|
0.00004
|
NM_000182.5(HADHA):c.316A>G (p.Met106Val)
|
rs143122454
|
0.00004
|
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp)
|
rs762296285
|
0.00004
|
NM_000182.5(HADHA):c.504A>G (p.Val168=)
|
rs1004279547
|
0.00004
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00004
|
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
|
rs905722226
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000182.5(HADHA):c.1014C>T (p.Ala338=)
|
rs748021991
|
0.00003
|
NM_000182.5(HADHA):c.12C>T (p.Cys4=)
|
rs938902936
|
0.00003
|
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
NM_000182.5(HADHA):c.777G>A (p.Lys259=)
|
rs142071869
|
0.00003
|
NM_000182.5(HADHA):c.828A>G (p.Pro276=)
|
rs765819381
|
0.00003
|
NM_000182.5(HADHA):c.954C>T (p.Ala318=)
|
rs755595692
|
0.00003
|
NM_000182.5(HADHA):c.183A>G (p.Val61=)
|
rs370149021
|
0.00002
|
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln)
|
rs781303622
|
0.00002
|
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg)
|
rs769625802
|
0.00002
|
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)
|
rs146667859
|
0.00002
|
NM_000182.5(HADHA):c.676+2T>C
|
rs772683361
|
0.00002
|
NM_000182.5(HADHA):c.677-3T>C
|
rs376306806
|
0.00002
|
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu)
|
rs143919136
|
0.00002
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
NM_000182.5(HADHA):c.9C>T (p.Ala3=)
|
rs1323737552
|
0.00002
|
NM_000182.5(HADHA):c.110-7T>C
|
rs551019555
|
0.00001
|
NM_000182.5(HADHA):c.180+19A>G
|
rs367919663
|
0.00001
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
NM_000182.5(HADHA):c.201G>A (p.Glu67=)
|
rs1574626650
|
0.00001
|
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr)
|
rs1281408938
|
0.00001
|
NM_000182.5(HADHA):c.264C>T (p.Ala88=)
|
rs755713464
|
0.00001
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
NM_000182.5(HADHA):c.285A>T (p.Pro95=)
|
rs1483582925
|
0.00001
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
NM_000182.5(HADHA):c.324C>T (p.Ala108=)
|
rs559608103
|
0.00001
|
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg)
|
rs145798498
|
0.00001
|
NM_000182.5(HADHA):c.363A>G (p.Gln121=)
|
rs199639645
|
0.00001
|
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
|
rs200549951
|
0.00001
|
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn)
|
rs1347586924
|
0.00001
|
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp)
|
rs746937892
|
0.00001
|
NM_000182.5(HADHA):c.552C>A (p.Gly184=)
|
rs997810898
|
0.00001
|
NM_000182.5(HADHA):c.573+16C>T
|
rs372317291
|
0.00001
|
NM_000182.5(HADHA):c.573+9A>G
|
rs1419666935
|
0.00001
|
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup)
|
rs1316714458
|
0.00001
|
NM_000182.5(HADHA):c.67+17G>C
|
rs574255291
|
0.00001
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
NM_000182.5(HADHA):c.676+10A>G
|
rs746940690
|
0.00001
|
NM_000182.5(HADHA):c.68-414A>G
|
rs1045384430
|
0.00001
|
NM_000182.5(HADHA):c.708A>G (p.Thr236=)
|
rs769619183
|
0.00001
|
NM_000182.5(HADHA):c.720A>C (p.Leu240=)
|
rs147042247
|
0.00001
|
NM_000182.5(HADHA):c.751C>T (p.Leu251=)
|
rs778945181
|
0.00001
|
NM_000182.5(HADHA):c.768C>T (p.Ile256=)
|
rs1245138981
|
0.00001
|
NM_000182.5(HADHA):c.800-15C>T
|
rs1057523518
|
0.00001
|
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
|
rs759968341
|
0.00001
|
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr)
|
rs369774960
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NM_000182.5(HADHA):c.924A>G (p.Val308=)
|
rs556893283
|
0.00001
|
NM_000182.5(HADHA):c.976-7T>G
|
rs1670058905
|
0.00001
|
NM_000182.5(HADHA):c.981T>C (p.Phe327=)
|
rs775800474
|
0.00001
|
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)
|
rs796051970
|
0.00001
|
NC_000002.11:g.(?_26414109)_(26415303_?)del
|
|
|
NC_000002.11:g.(?_26414109)_(26462021_?)del
|
|
|
NC_000002.11:g.(?_26414119)_(26418121_?)dup
|
|
|
NC_000002.11:g.(?_26414119)_(26462031_?)del
|
|
|
NC_000002.11:g.(?_26416426)_(26418121_?)del
|
|
|
NC_000002.11:g.(?_26416436)_(26418111_?)del
|
|
|
NC_000002.11:g.(?_26455008)_(26457243_?)dup
|
|
|
NC_000002.11:g.(?_26467378)_(26467464_?)del
|
|
|
NC_000002.12:g.(?_26236845)_(26239153_?)del
|
|
|
NM_000182.4(HADHA):c.-37T>C
|
rs528818728
|
|
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
|
|
|
NM_000182.5(HADHA):c.1011G>A (p.Lys337=)
|
|
|
NM_000182.5(HADHA):c.1014C>G (p.Ala338=)
|
|
|
NM_000182.5(HADHA):c.1015T>C (p.Leu339=)
|
rs2147766676
|
|
NM_000182.5(HADHA):c.1023A>G (p.Gly341=)
|
|
|
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
|
|
|
NM_000182.5(HADHA):c.1032T>C (p.His344=)
|
|
|
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
|
|
|
NM_000182.5(HADHA):c.1041C>A (p.Val347=)
|
|
|
NM_000182.5(HADHA):c.1042C>T (p.Leu348=)
|
|
|
NM_000182.5(HADHA):c.1044G>A (p.Leu348=)
|
rs1574612640
|
|
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg)
|
rs757845324
|
|
NM_000182.5(HADHA):c.1050G>A (p.Lys350=)
|
rs2147766641
|
|
NM_000182.5(HADHA):c.1052del (p.Lys351fs)
|
rs1057516556
|
|
NM_000182.5(HADHA):c.1053G>A (p.Lys351=)
|
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
NM_000182.5(HADHA):c.105G>A (p.Leu35=)
|
rs772322566
|
|
NM_000182.5(HADHA):c.1065A>C (p.Gly355=)
|
rs1574612617
|
|
NM_000182.5(HADHA):c.1070del (p.Pro357fs)
|
rs1670051013
|
|
NM_000182.5(HADHA):c.1077G>A (p.Lys359=)
|
rs2147766596
|
|
NM_000182.5(HADHA):c.1080T>G (p.Asp360Glu)
|
|
|
NM_000182.5(HADHA):c.1085+10del
|
|
|
NM_000182.5(HADHA):c.1085+12T>G
|
|
|
NM_000182.5(HADHA):c.1085+15A>G
|
|
|
NM_000182.5(HADHA):c.1085+16C>T
|
|
|
NM_000182.5(HADHA):c.1085+19A>G
|
|
|
NM_000182.5(HADHA):c.110-10T>C
|
rs372046774
|
|
NM_000182.5(HADHA):c.110-11T>C
|
|
|
NM_000182.5(HADHA):c.110-12T>A
|
|
|
NM_000182.5(HADHA):c.110-12T>C
|
|
|
NM_000182.5(HADHA):c.110-13C>A
|
rs1314506688
|
|
NM_000182.5(HADHA):c.110-13_110-10del
|
|
|
NM_000182.5(HADHA):c.110-14T>A
|
|
|
NM_000182.5(HADHA):c.110-14T>C
|
|
|
NM_000182.5(HADHA):c.110-15T>G
|
|
|
NM_000182.5(HADHA):c.110-17C>T
|
|
|
NM_000182.5(HADHA):c.129T>C (p.Tyr43=)
|
rs2147785511
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
|
|
|
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
|
|
|
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
|
|
|
NM_000182.5(HADHA):c.141G>A (p.Gly47=)
|
rs1670826504
|
|
NM_000182.5(HADHA):c.147G>A (p.Val49=)
|
rs2147785494
|
|
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
|
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
|
|
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser)
|
rs2147785483
|
|
NM_000182.5(HADHA):c.162T>C (p.Ile54=)
|
rs1558331903
|
|
NM_000182.5(HADHA):c.165C>T (p.Asn55=)
|
|
|
NM_000182.5(HADHA):c.16G>A (p.Ala6Thr)
|
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
|
|
|
NM_000182.5(HADHA):c.177A>C (p.Ser59=)
|
rs1574627624
|
|
NM_000182.5(HADHA):c.17C>T (p.Ala6Val)
|
|
|
NM_000182.5(HADHA):c.180+14T>A
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.180+20G>A
|
|
|
NM_000182.5(HADHA):c.180+7C>G
|
|
|
NM_000182.5(HADHA):c.180_180+5delinsAT
|
rs1553316142
|
|
NM_000182.5(HADHA):c.181-15A>G
|
|
|
NM_000182.5(HADHA):c.181-17A>G
|
|
|
NM_000182.5(HADHA):c.181-1G>A
|
|
|
NM_000182.5(HADHA):c.181-8T>A
|
rs1670779458
|
|
NM_000182.5(HADHA):c.189A>C (p.Thr63=)
|
rs748187062
|
|
NM_000182.5(HADHA):c.189A>T (p.Thr63=)
|
rs748187062
|
|
NM_000182.5(HADHA):c.192G>A (p.Leu64=)
|
rs2147784458
|
|
NM_000182.5(HADHA):c.1A>G (p.Met1Val)
|
rs1057517430
|
|
NM_000182.5(HADHA):c.202C>T (p.Leu68=)
|
|
|
NM_000182.5(HADHA):c.204A>G (p.Leu68=)
|
|
|
NM_000182.5(HADHA):c.213G>A (p.Glu71=)
|
rs532314552
|
|
NM_000182.5(HADHA):c.216C>T (p.Phe72=)
|
rs1670777856
|
|
NM_000182.5(HADHA):c.217T>C (p.Ser73Pro)
|
|
|
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
|
|
|
NM_000182.5(HADHA):c.238del (p.Trp80fs)
|
|
|
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter)
|
rs1057516326
|
|
NM_000182.5(HADHA):c.243T>C (p.Ala81=)
|
|
|
NM_000182.5(HADHA):c.24C>A (p.Gly8=)
|
rs942208244
|
|
NM_000182.5(HADHA):c.252A>C (p.Gln84His)
|
rs2147784410
|
|
NM_000182.5(HADHA):c.258A>G (p.Arg86=)
|
|
|
NM_000182.5(HADHA):c.264C>G (p.Ala88=)
|
|
|
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
|
|
|
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg)
|
rs2147784395
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
NM_000182.5(HADHA):c.276A>G (p.Ser92=)
|
|
|
NM_000182.5(HADHA):c.279A>G (p.Ser93=)
|
|
|
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
|
|
|
NM_000182.5(HADHA):c.284_288del (p.Pro95fs)
|
|
|
NM_000182.5(HADHA):c.291C>T (p.Cys97=)
|
|
|
NM_000182.5(HADHA):c.294del (p.Phe98fs)
|
rs2147784383
|
|
NM_000182.5(HADHA):c.297T>C (p.Ile99=)
|
|
|
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del)
|
rs1553316724
|
|
NM_000182.5(HADHA):c.300A>G (p.Ala100=)
|
rs1335136331
|
|
NM_000182.5(HADHA):c.303T>G (p.Gly101=)
|
rs1670773890
|
|
NM_000182.5(HADHA):c.306T>C (p.Ala102=)
|
|
|
NM_000182.5(HADHA):c.30C>A (p.Leu10=)
|
|
|
NM_000182.5(HADHA):c.30C>G (p.Leu10=)
|
rs1221423725
|
|
NM_000182.5(HADHA):c.310dup (p.Ile104fs)
|
rs1670773680
|
|
NM_000182.5(HADHA):c.314+11G>A
|
|
|
NM_000182.5(HADHA):c.314+12G>T
|
|
|
NM_000182.5(HADHA):c.314+14A>C
|
|
|
NM_000182.5(HADHA):c.314+15A>G
|
|
|
NM_000182.5(HADHA):c.314+17T>C
|
|
|
NM_000182.5(HADHA):c.314+18dup
|
rs2147784338
|
|
NM_000182.5(HADHA):c.314+19G>A
|
|
|
NM_000182.5(HADHA):c.314+1G>C
|
|
|
NM_000182.5(HADHA):c.314+2T>G
|
|
|
NM_000182.5(HADHA):c.314+8T>A
|
|
|
NM_000182.5(HADHA):c.315-16T>A
|
|
|
NM_000182.5(HADHA):c.315-2A>T
|
|
|
NM_000182.5(HADHA):c.327T>C (p.Ala109=)
|
|
|
NM_000182.5(HADHA):c.336C>A (p.Thr112=)
|
|
|
NM_000182.5(HADHA):c.33C>T (p.Ser11=)
|
rs1574631841
|
|
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
|
NM_000182.5(HADHA):c.345A>G (p.Glu115=)
|
|
|
NM_000182.5(HADHA):c.348A>G (p.Val116=)
|
rs2147782544
|
|
NM_000182.5(HADHA):c.352_353del (p.Gln118fs)
|
rs1670695370
|
|
NM_000182.5(HADHA):c.359C>A (p.Ser120Ter)
|
rs1670695099
|
|
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
|
|
|
NM_000182.5(HADHA):c.36C>A (p.Arg12=)
|
rs2147789735
|
|
NM_000182.5(HADHA):c.384G>A (p.Glu128=)
|
|
|
NM_000182.5(HADHA):c.387_388del (p.Lys129fs)
|
rs780350631
|
|
NM_000182.5(HADHA):c.3G>A (p.Met1Ile)
|
rs1237270916
|
|
NM_000182.5(HADHA):c.402A>G (p.Thr134=)
|
|
|
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)
|
rs794727700
|
|
NM_000182.5(HADHA):c.411T>C (p.Ile137=)
|
rs1574625100
|
|
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
|
rs758107197
|
|
NM_000182.5(HADHA):c.432C>A (p.Ser144=)
|
rs2147782494
|
|
NM_000182.5(HADHA):c.432C>G (p.Ser144=)
|
rs2147782494
|
|
NM_000182.5(HADHA):c.439G>T (p.Gly147Ter)
|
rs1460602961
|
|
NM_000182.5(HADHA):c.451G>T (p.Glu151Ter)
|
rs1670693281
|
|
NM_000182.5(HADHA):c.453+12C>G
|
|
|
NM_000182.5(HADHA):c.453+14A>G
|
|
|
NM_000182.5(HADHA):c.453+14A>T
|
|
|
NM_000182.5(HADHA):c.453+1G>A
|
rs1057516417
|
|
NM_000182.5(HADHA):c.453+20_453+22del
|
|
|
NM_000182.5(HADHA):c.453+9A>G
|
|
|
NM_000182.5(HADHA):c.454-12A>G
|
|
|
NM_000182.5(HADHA):c.454-12_454-11del
|
|
|
NM_000182.5(HADHA):c.454-13C>A
|
|
|
NM_000182.5(HADHA):c.454-13C>T
|
rs367636661
|
|
NM_000182.5(HADHA):c.454-17C>G
|
|
|
NM_000182.5(HADHA):c.454-5C>T
|
|
|
NM_000182.5(HADHA):c.454-8G>T
|
rs1175400236
|
|
NM_000182.5(HADHA):c.45C>T (p.Ala15=)
|
|
|
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr)
|
rs1670643151
|
|
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
|
|
|
NM_000182.5(HADHA):c.474C>A (p.Tyr158Ter)
|
rs11552518
|
|
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
|
|
|
NM_000182.5(HADHA):c.501A>G (p.Thr167=)
|
|
|
NM_000182.5(HADHA):c.507A>G (p.Leu169=)
|
|
|
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
|
|
|
NM_000182.5(HADHA):c.513C>T (p.Thr171=)
|
|
|
NM_000182.5(HADHA):c.515del (p.Pro172fs)
|
rs1057517282
|
|
NM_000182.5(HADHA):c.540A>G (p.Pro180=)
|
|
|
NM_000182.5(HADHA):c.546A>G (p.Ala182=)
|
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
NM_000182.5(HADHA):c.558A>G (p.Gln186=)
|
|
|
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
|
|
|
NM_000182.5(HADHA):c.564G>A (p.Leu188=)
|
rs2147781176
|
|
NM_000182.5(HADHA):c.566_567delinsA (p.Pro189fs)
|
|
|
NM_000182.5(HADHA):c.567C>G (p.Pro189=)
|
|
|
NM_000182.5(HADHA):c.573+15C>T
|
|
|
NM_000182.5(HADHA):c.573+1G>A
|
|
|
NM_000182.5(HADHA):c.573+7C>G
|
|
|
NM_000182.5(HADHA):c.573+8T>C
|
rs2147781158
|
|
NM_000182.5(HADHA):c.573G>A (p.Met191Ile)
|
rs2147781167
|
|
NM_000182.5(HADHA):c.574-13G>A
|
|
|
NM_000182.5(HADHA):c.574-13G>T
|
|
|
NM_000182.5(HADHA):c.574-17C>T
|
|
|
NM_000182.5(HADHA):c.574-2A>G
|
rs1670591013
|
|
NM_000182.5(HADHA):c.574-4T>G
|
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
NM_000182.5(HADHA):c.574-5G>A
|
rs1248416510
|
|
NM_000182.5(HADHA):c.574-6T>C
|
|
|
NM_000182.5(HADHA):c.574-9G>T
|
|
|
NM_000182.5(HADHA):c.57C>G (p.Leu19=)
|
|
|
NM_000182.5(HADHA):c.592T>C (p.Leu198=)
|
|
|
NM_000182.5(HADHA):c.594G>A (p.Leu198=)
|
|
|
NM_000182.5(HADHA):c.609T>G (p.Thr203=)
|
rs2147779949
|
|
NM_000182.5(HADHA):c.612T>A (p.Gly204=)
|
rs2147779944
|
|
NM_000182.5(HADHA):c.612dup (p.Arg205Ter)
|
rs1574623071
|
|
NM_000182.5(HADHA):c.621T>C (p.Ile207=)
|
|
|
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
|
|
|
NM_000182.5(HADHA):c.624T>C (p.Arg208=)
|
rs2147779940
|
|
NM_000182.5(HADHA):c.627A>G (p.Ala209=)
|
|
|
NM_000182.5(HADHA):c.633G>A (p.Arg211=)
|
rs2147779928
|
|
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
|
|
|
NM_000182.5(HADHA):c.63C>T (p.Ser21=)
|
rs2147789695
|
|
NM_000182.5(HADHA):c.640A>T (p.Lys214Ter)
|
rs1670589674
|
|
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter)
|
rs1300516636
|
|
NM_000182.5(HADHA):c.651G>T (p.Leu217=)
|
|
|
NM_000182.5(HADHA):c.654T>C (p.Val218=)
|
|
|
NM_000182.5(HADHA):c.658C>T (p.Gln220Ter)
|
|
|
NM_000182.5(HADHA):c.661C>T (p.Leu221=)
|
rs1574623021
|
|
NM_000182.5(HADHA):c.667G>T (p.Glu223Ter)
|
rs1670587952
|
|
NM_000182.5(HADHA):c.669A>G (p.Glu223=)
|
rs748977241
|
|
NM_000182.5(HADHA):c.67+13C>G
|
|
|
NM_000182.5(HADHA):c.67+14G>A
|
|
|
NM_000182.5(HADHA):c.67+16G>C
|
|
|
NM_000182.5(HADHA):c.67+18G>A
|
|
|
NM_000182.5(HADHA):c.67+18G>T
|
|
|
NM_000182.5(HADHA):c.67+1G>A
|
|
|
NM_000182.5(HADHA):c.67+9T>C
|
|
|
NM_000182.5(HADHA):c.676+1G>A
|
rs1670587668
|
|
NM_000182.5(HADHA):c.676+6T>C
|
rs886055863
|
|
NM_000182.5(HADHA):c.677-16G>T
|
|
|
NM_000182.5(HADHA):c.677-17T>A
|
|
|
NM_000182.5(HADHA):c.677-1G>A
|
rs1553314070
|
|
NM_000182.5(HADHA):c.677-20T>C
|
|
|
NM_000182.5(HADHA):c.677-2A>G
|
|
|
NM_000182.5(HADHA):c.677-6T>C
|
rs2147770003
|
|
NM_000182.5(HADHA):c.677-9T>C
|
rs2147770005
|
|
NM_000182.5(HADHA):c.678A>C (p.Gly226=)
|
|
|
NM_000182.5(HADHA):c.68-12C>G
|
|
|
NM_000182.5(HADHA):c.68-12C>T
|
|
|
NM_000182.5(HADHA):c.68-14G>A
|
|
|
NM_000182.5(HADHA):c.68-16A>C
|
|
|
NM_000182.5(HADHA):c.68-18A>T
|
|
|
NM_000182.5(HADHA):c.68-4A>G
|
|
|
NM_000182.5(HADHA):c.68-7C>T
|
rs1670832440
|
|
NM_000182.5(HADHA):c.687A>G (p.Leu229=)
|
rs2147769994
|
|
NM_000182.5(HADHA):c.690del (p.Lys230fs)
|
rs2147769993
|
|
NM_000182.5(HADHA):c.693T>C (p.Pro231=)
|
|
|
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs)
|
rs1456890163
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
NM_000182.5(HADHA):c.703_704dup (p.Thr236fs)
|
|
|
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
|
|
|
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
|
|
|
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
|
|
|
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
|
|
|
NM_000182.5(HADHA):c.717C>A (p.Tyr239Ter)
|
|
|
NM_000182.5(HADHA):c.72T>C (p.Tyr24=)
|
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
|
|
|
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
|
|
|
NM_000182.5(HADHA):c.743C>T (p.Ala248Val)
|
rs199688741
|
|
NM_000182.5(HADHA):c.744C>G (p.Ala248=)
|
|
|
NM_000182.5(HADHA):c.744C>T (p.Ala248=)
|
|
|
NM_000182.5(HADHA):c.750A>G (p.Gly250=)
|
|
|
NM_000182.5(HADHA):c.759T>C (p.Asp253=)
|
|
|
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
|
|
|
NM_000182.5(HADHA):c.761del (p.Lys254fs)
|
|
|
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn)
|
rs1490396477
|
|
NM_000182.5(HADHA):c.774A>G (p.Pro258=)
|
rs2147769914
|
|
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
|
|
|
NM_000182.5(HADHA):c.790T>C (p.Leu264=)
|
|
|
NM_000182.5(HADHA):c.799+10A>C
|
rs2147769884
|
|
NM_000182.5(HADHA):c.799+13G>A
|
|
|
NM_000182.5(HADHA):c.799+18dup
|
|
|
NM_000182.5(HADHA):c.799+1G>A
|
|
|
NM_000182.5(HADHA):c.799+5G>A
|
|
|
NM_000182.5(HADHA):c.799+7A>G
|
|
|
NM_000182.5(HADHA):c.799+8T>A
|
rs1451443100
|
|
NM_000182.5(HADHA):c.800-16del
|
|
|
NM_000182.5(HADHA):c.800-1G>T
|
rs1553314024
|
|
NM_000182.5(HADHA):c.800-1_801del
|
rs1553314023
|
|
NM_000182.5(HADHA):c.800-20A>G
|
|
|
NM_000182.5(HADHA):c.800-9A>G
|
rs2147769623
|
|
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
|
|
|
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr)
|
rs1574615066
|
|
NM_000182.5(HADHA):c.80G>A (p.Arg27His)
|
rs200145855
|
|
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
|
rs200145855
|
|
NM_000182.5(HADHA):c.815C>A (p.Ala272Asp)
|
|
|
NM_000182.5(HADHA):c.81C>T (p.Arg27=)
|
|
|
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
|
|
|
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)
|
rs774235292
|
|
NM_000182.5(HADHA):c.846T>A (p.Val282=)
|
rs1574615034
|
|
NM_000182.5(HADHA):c.849C>T (p.Tyr283=)
|
|
|
NM_000182.5(HADHA):c.859G>T (p.Glu287Ter)
|
rs1670172615
|
|
NM_000182.5(HADHA):c.862G>T (p.Glu288Ter)
|
rs1670172561
|
|
NM_000182.5(HADHA):c.870G>A (p.Val290=)
|
rs771022089
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000182.5(HADHA):c.874A>T (p.Lys292Ter)
|
|
|
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
|
|
|
NM_000182.5(HADHA):c.879G>A (p.Gln293=)
|
|
|
NM_000182.5(HADHA):c.882T>A (p.Thr294=)
|
|
|
NM_000182.5(HADHA):c.882T>C (p.Thr294=)
|
rs769959246
|
|
NM_000182.5(HADHA):c.891T>A (p.Leu297=)
|
rs748396892
|
|
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
|
|
|
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
|
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.918+15A>G
|
|
|
NM_000182.5(HADHA):c.918+16T>G
|
|
|
NM_000182.5(HADHA):c.918+20C>T
|
|
|
NM_000182.5(HADHA):c.919-10T>C
|
rs2147768564
|
|
NM_000182.5(HADHA):c.919-11A>G
|
|
|
NM_000182.5(HADHA):c.919-15T>G
|
|
|
NM_000182.5(HADHA):c.919-1G>A
|
|
|
NM_000182.5(HADHA):c.919-7T>G
|
rs2147768563
|
|
NM_000182.5(HADHA):c.930T>C (p.Thr310=)
|
rs1670129457
|
|
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
|
|
|
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)
|
rs886055862
|
|
NM_000182.5(HADHA):c.93G>A (p.Gly31=)
|
rs2147785589
|
|
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
|
|
|
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
|
|
|
NM_000182.5(HADHA):c.954C>A (p.Ala318=)
|
|
|
NM_000182.5(HADHA):c.957T>C (p.Gly319=)
|
|
|
NM_000182.5(HADHA):c.959del (p.Tyr320fs)
|
|
|
NM_000182.5(HADHA):c.960T>A (p.Tyr320Ter)
|
rs1670128490
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
NM_000182.5(HADHA):c.975+12del
|
|
|
NM_000182.5(HADHA):c.975+17dup
|
|
|
NM_000182.5(HADHA):c.975+20A>G
|
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
NM_000182.5(HADHA):c.976-10T>A
|
|
|
NM_000182.5(HADHA):c.976-12T>C
|
|
|
NM_000182.5(HADHA):c.976-18T>C
|
|
|
NM_000182.5(HADHA):c.976-19A>C
|
rs2147766738
|
|
NM_000182.5(HADHA):c.976-1G>T
|
rs2147766716
|
|
NM_000182.5(HADHA):c.976-20C>T
|
|
|
NM_000182.5(HADHA):c.976-2A>G
|
|
|
NM_000182.5(HADHA):c.984A>G (p.Gly328=)
|
|
|
NM_000182.5(HADHA):c.990T>C (p.Leu330=)
|
rs1433589314
|
|
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
|
|
|
NM_000182.5(HADHA):c.995T>G (p.Met332Arg)
|
rs752285354
|
|
NM_000182.5(HADHA):c.999C>A (p.Thr333=)
|
rs2147766687
|
|
Single allele
|
|
|