NM_004092.4(ECHS1):c.739+22C>G
|
rs6537598
|
0.92765
|
NM_004092.4(ECHS1):c.224C>T (p.Thr75Ile)
|
rs1049951
|
0.81846
|
NM_004092.4(ECHS1):c.32T>C (p.Val11Ala)
|
rs10466126
|
0.62082
|
NM_004092.4(ECHS1):c.286+8C>T
|
rs189727187
|
0.01158
|
NM_004092.4(ECHS1):c.808-17G>A
|
rs114654147
|
0.00506
|
NM_004092.4(ECHS1):c.240G>A (p.Pro80=)
|
rs35775473
|
0.00380
|
NM_004092.4(ECHS1):c.489G>A (p.Pro163=)
|
rs140410716
|
0.00042
|
NM_004092.4(ECHS1):c.343A>C (p.Lys115Gln)
|
rs369960115
|
0.00014
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)
|
rs375032130
|
0.00009
|
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)
|
rs761989177
|
0.00006
|
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)
|
rs557128093
|
0.00004
|
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)
|
rs587776498
|
0.00004
|
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu)
|
rs371582393
|
0.00003
|
NM_004092.4(ECHS1):c.8C>T (p.Ala3Val)
|
rs372408822
|
0.00003
|
NM_004092.4(ECHS1):c.161G>A (p.Arg54His)
|
rs375266808
|
0.00002
|
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)
|
rs770931871
|
0.00002
|
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)
|
rs200584793
|
0.00002
|
NM_004092.4(ECHS1):c.814C>T (p.Arg272Trp)
|
rs772585791
|
0.00002
|
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)
|
rs565090080
|
0.00002
|
NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys)
|
rs758723288
|
0.00001
|
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser)
|
rs201865375
|
0.00001
|
NM_004092.4(ECHS1):c.213G>A (p.Gln71=)
|
rs765131350
|
0.00001
|
NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg)
|
rs1085307550
|
0.00001
|
NM_004092.4(ECHS1):c.414+1G>A
|
rs754815893
|
0.00001
|
NM_004092.4(ECHS1):c.444G>T (p.Met148Ile)
|
rs752225756
|
0.00001
|
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser)
|
rs962504241
|
0.00001
|
NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys)
|
rs754609693
|
0.00001
|
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr)
|
rs1318391499
|
0.00001
|
NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter)
|
rs776926045
|
0.00001
|
NM_004092.4(ECHS1):c.740C>T (p.Ala247Val)
|
rs762885546
|
0.00001
|
NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala)
|
rs770614061
|
0.00001
|
NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile)
|
rs775650144
|
0.00001
|
NM_004092.4(ECHS1):c.833C>T (p.Ala278Val)
|
rs923554493
|
0.00001
|
NM_004092.4(ECHS1):c.88+5G>A
|
rs761464256
|
0.00001
|
NC_000010.10:g.(?_135175966)_(135180498_135182426)del
|
|
|
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)
|
rs746519257
|
|
NM_004092.4(ECHS1):c.197T>C (p.Ile66Thr)
|
|
|
NM_004092.4(ECHS1):c.1A>T (p.Met1Leu)
|
rs753557738
|
|
NM_004092.4(ECHS1):c.202G>A (p.Glu68Lys)
|
|
|
NM_004092.4(ECHS1):c.229G>C (p.Glu77Gln)
|
rs1426014295
|
|
NM_004092.4(ECHS1):c.23T>C (p.Leu8Pro)
|
rs775833766
|
|
NM_004092.4(ECHS1):c.250G>A (p.Ala84Thr)
|
rs2133443188
|
|
NM_004092.4(ECHS1):c.268G>C (p.Gly90Arg)
|
rs1085307550
|
|
NM_004092.4(ECHS1):c.299T>C (p.Ile100Thr)
|
|
|
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg)
|
rs587776497
|
|
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs)
|
rs777218310
|
|
NM_004092.4(ECHS1):c.413C>T (p.Ala138Val)
|
rs864309656
|
|
NM_004092.4(ECHS1):c.414+3G>C
|
rs786204002
|
|
NM_004092.4(ECHS1):c.440T>C (p.Met147Thr)
|
|
|
NM_004092.4(ECHS1):c.457T>A (p.Tyr153Asn)
|
rs2133441975
|
|
NM_004092.4(ECHS1):c.467A>G (p.Glu156Gly)
|
rs1849069405
|
|
NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp)
|
rs786204001
|
|
NM_004092.4(ECHS1):c.53dup (p.Val19fs)
|
|
|
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val)
|
rs1164154836
|
|
NM_004092.4(ECHS1):c.582T>C (p.Thr194=)
|
rs2230261
|
|
NM_004092.4(ECHS1):c.601C>T (p.Gln201Ter)
|
|
|
NM_004092.4(ECHS1):c.616G>A (p.Ala206Thr)
|
|
|
NM_004092.4(ECHS1):c.62G>C (p.Cys21Ser)
|
rs1436440154
|
|
NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg)
|
rs1589880497
|
|
NM_004092.4(ECHS1):c.673T>C (p.Cys225Arg)
|
|
|
NM_004092.4(ECHS1):c.67G>C (p.Ala23Pro)
|
rs759853219
|
|
NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr)
|
rs201621364
|
|
NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro)
|
rs1554886769
|
|
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser)
|
rs1554885535
|
|
NM_004092.4(ECHS1):c.847A>G (p.Arg283Gly)
|
rs1589878956
|
|
NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs)
|
rs1554885530
|
|