NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)
|
rs11540913
|
0.82371
|
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)
|
rs2279720
|
0.09131
|
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)
|
rs1044499
|
0.09006
|
NM_014043.4(CHMP2B):c.*1503G>C
|
rs1060238
|
0.03503
|
NM_014043.4(CHMP2B):c.*1190G>T
|
rs115892684
|
0.02804
|
NM_014043.4(CHMP2B):c.*231T>C
|
rs17189270
|
0.01035
|
NM_014043.4(CHMP2B):c.-151C>A
|
rs77328592
|
0.01035
|
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
|
rs78268395
|
0.00705
|
NM_014043.4(CHMP2B):c.*1588C>T
|
rs11426
|
0.00691
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_014043.4(CHMP2B):c.*1255G>T
|
rs144167614
|
0.00241
|
NM_014043.4(CHMP2B):c.35-7C>T
|
rs200912994
|
0.00133
|
NM_014043.4(CHMP2B):c.*1610C>T
|
rs191312397
|
0.00124
|
NM_014043.4(CHMP2B):c.*864G>A
|
rs181777395
|
0.00079
|
NM_014043.4(CHMP2B):c.*1408A>G
|
rs183429826
|
0.00055
|
NM_014043.4(CHMP2B):c.*744C>A
|
rs185167991
|
0.00048
|
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly)
|
rs139894940
|
0.00048
|
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)
|
rs148750997
|
0.00029
|
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)
|
rs189313287
|
0.00029
|
NM_014043.4(CHMP2B):c.*1647A>G
|
rs534772903
|
0.00024
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)
|
rs143178463
|
0.00016
|
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)
|
rs149380040
|
0.00015
|
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)
|
rs192188850
|
0.00014
|
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter)
|
rs138886714
|
0.00013
|
NM_014043.4(CHMP2B):c.*836T>C
|
rs189927047
|
0.00012
|
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)
|
rs200792883
|
0.00011
|
NM_014043.4(CHMP2B):c.*718C>T
|
rs918982067
|
0.00010
|
NM_014043.4(CHMP2B):c.*1421C>T
|
rs1016915311
|
0.00009
|
NM_014043.4(CHMP2B):c.532-3T>C
|
rs375829451
|
0.00009
|
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln)
|
rs188471297
|
0.00007
|
NM_014043.4(CHMP2B):c.*1516C>T
|
rs1024508536
|
0.00006
|
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=)
|
rs376846232
|
0.00006
|
NM_014043.4(CHMP2B):c.424+10A>G
|
rs375906390
|
0.00006
|
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln)
|
rs200322526
|
0.00006
|
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp)
|
rs373536428
|
0.00006
|
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile)
|
rs374277596
|
0.00004
|
NM_014043.4(CHMP2B):c.321+3A>G
|
rs989392144
|
0.00004
|
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser)
|
rs63750944
|
0.00004
|
NM_014043.4(CHMP2B):c.*1071A>G
|
rs544589377
|
0.00003
|
NM_014043.4(CHMP2B):c.219G>A (p.Thr73=)
|
rs754433917
|
0.00003
|
NM_014043.4(CHMP2B):c.315A>G (p.Thr105=)
|
rs778796624
|
0.00003
|
NM_014043.4(CHMP2B):c.*1422G>A
|
rs572323799
|
0.00002
|
NM_014043.4(CHMP2B):c.*1482T>A
|
rs910263560
|
0.00001
|
NM_014043.4(CHMP2B):c.*901T>C
|
rs1014335812
|
0.00001
|
NM_014043.4(CHMP2B):c.-144C>T
|
rs1441064038
|
0.00001
|
NM_014043.4(CHMP2B):c.126+4A>G
|
rs369912013
|
0.00001
|
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg)
|
rs143800051
|
0.00001
|
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu)
|
rs745754634
|
0.00001
|
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp)
|
rs553846327
|
0.00001
|
NM_014043.4(CHMP2B):c.21G>A (p.Lys7=)
|
rs1364419230
|
0.00001
|
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met)
|
rs1295215037
|
0.00001
|
NM_014043.4(CHMP2B):c.423G>A (p.Met141Ile)
|
rs202143621
|
0.00001
|
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu)
|
rs369257752
|
0.00001
|
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)
|
rs63751048
|
0.00001
|
NM_014043.4(CHMP2B):c.94C>T (p.Arg32Ter)
|
rs763615051
|
0.00001
|
NM_014043.4(CHMP2B):c.*1080C>T
|
rs963258376
|
|
NM_014043.4(CHMP2B):c.*121G>A
|
rs1706359144
|
|
NM_014043.4(CHMP2B):c.*1376G>C
|
rs191203869
|
|
NM_014043.4(CHMP2B):c.*1414T>C
|
rs1575973316
|
|
NM_014043.4(CHMP2B):c.*602T>G
|
rs886058908
|
|
NM_014043.4(CHMP2B):c.*626A>G
|
rs971797498
|
|
NM_014043.4(CHMP2B):c.*968G>A
|
rs886058910
|
|
NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)
|
|
|
NM_014043.4(CHMP2B):c.127-7C>T
|
|
|
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
|
|
|
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
|
|
|
NM_014043.4(CHMP2B):c.180T>G (p.Val60=)
|
|
|
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)
|
rs1706200423
|
|
NM_014043.4(CHMP2B):c.216G>A (p.Lys72=)
|
|
|
NM_014043.4(CHMP2B):c.234A>C (p.Val78=)
|
rs765641845
|
|
NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)
|
|
|
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)
|
|
|
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu)
|
rs1706202120
|
|
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr)
|
rs2106908498
|
|
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)
|
rs281864934
|
|
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=)
|
rs778796624
|
|
NM_014043.4(CHMP2B):c.321+10A>C
|
|
|
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)
|
|
|
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)
|
rs747904374
|
|
NM_014043.4(CHMP2B):c.34+14C>G
|
|
|
NM_014043.4(CHMP2B):c.34+6T>C
|
|
|
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)
|
|
|
NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)
|
|
|
NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)
|
|
|
NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)
|
|
|
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val)
|
rs1706285788
|
|
NM_014043.4(CHMP2B):c.424+19_424+21del
|
rs2106913116
|
|
NM_014043.4(CHMP2B):c.424+20A>C
|
|
|
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp)
|
rs2106916834
|
|
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)
|
|
|
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)
|
rs63750653
|
|
NM_014043.4(CHMP2B):c.453C>T (p.Asp151=)
|
rs767746876
|
|
NM_014043.4(CHMP2B):c.474A>G (p.Glu158=)
|
rs1285764025
|
|
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)
|
rs63750355
|
|
NM_014043.4(CHMP2B):c.531+14C>A
|
|
|
NM_014043.4(CHMP2B):c.531+8C>T
|
rs374796686
|
|
NM_014043.4(CHMP2B):c.532-14A>G
|
|
|
NM_014043.4(CHMP2B):c.532-1G>A
|
rs63750652
|
|
NM_014043.4(CHMP2B):c.532-1G>C
|
rs63750652
|
|
NM_014043.4(CHMP2B):c.535del (p.Ala179fs)
|
|
|
NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)
|
|
|
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp)
|
rs2106917283
|
|
NM_014043.4(CHMP2B):c.579T>A (p.Thr193=)
|
|
|
NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)
|
|
|
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln)
|
rs750217435
|
|
NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)
|
|
|
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)
|
rs63751126
|
|
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)
|
|
|
NM_014043.4(CHMP2B):c.67G>A (p.Gly23Ser)
|
|
|
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)
|
|
|
NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)
|
|
|
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser)
|
rs775142652
|
|