NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00010
|
NM_000182.5(HADHA):c.975+6C>T
|
rs766717752
|
0.00006
|
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.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.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
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.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.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr)
|
rs1281408938
|
0.00001
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg)
|
rs145798498
|
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.646_657dup (p.Gly216_Asp219dup)
|
rs1316714458
|
0.00001
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
NM_000182.5(HADHA):c.68-414A>G
|
rs1045384430
|
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.982G>A (p.Gly328Arg)
|
rs796051970
|
0.00001
|
NC_000002.11:g.(?_26414119)_(26418121_?)dup
|
|
|
NM_000182.4(HADHA):c.-37T>C
|
rs528818728
|
|
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
|
|
|
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg)
|
rs757845324
|
|
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.157C>A (p.Arg53=)
|
rs147103714
|
|
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser)
|
rs2147785483
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
|
|
|
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
|
|
|
NM_000182.5(HADHA):c.252A>C (p.Gln84His)
|
rs2147784410
|
|
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
|
|
|
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg)
|
rs2147784395
|
|
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
|
|
|
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del)
|
rs1553316724
|
|
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
|
|
|
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)
|
rs794727700
|
|
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
|
rs758107197
|
|
NM_000182.5(HADHA):c.454-13C>T
|
rs367636661
|
|
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr)
|
rs1670643151
|
|
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
|
|
|
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
|
|
|
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
|
|
|
NM_000182.5(HADHA):c.573G>A (p.Met191Ile)
|
rs2147781167
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
|
|
|
NM_000182.5(HADHA):c.676+6T>C
|
rs886055863
|
|
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
|
|
|
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
|
|
|
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
|
|
|
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.767T>A (p.Ile256Asn)
|
rs1490396477
|
|
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
|
|
|
NM_000182.5(HADHA):c.799+5G>A
|
|
|
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.901C>A (p.Pro301Thr)
|
|
|
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)
|
rs886055862
|
|
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
|
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
|
|
|
NM_000182.5(HADHA):c.995T>G (p.Met332Arg)
|
rs752285354
|
|
Single allele
|
|
|