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.581C>T (p.Ser194Leu)
|
rs149380040
|
0.00015
|
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)
|
rs192188850
|
0.00014
|
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.*1516C>T
|
rs1024508536
|
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.*1422G>A
|
rs572323799
|
0.00002
|
NM_014043.4(CHMP2B):c.*1482T>A
|
rs910263560
|
0.00001
|
NM_014043.4(CHMP2B):c.*1641A>C
|
rs886058912
|
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.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.*1008_*1011del
|
rs886058911
|
|
NM_014043.4(CHMP2B):c.*106dup
|
rs368297778
|
|
NM_014043.4(CHMP2B):c.*1080C>T
|
rs963258376
|
|
NM_014043.4(CHMP2B):c.*121G>A
|
rs1706359144
|
|
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.*92dup
|
rs886058906
|
|
NM_014043.4(CHMP2B):c.*955_*960del
|
rs886058909
|
|
NM_014043.4(CHMP2B):c.*968G>A
|
rs886058910
|
|
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
|
|
|
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
|
|
|
NM_014043.4(CHMP2B):c.202C>T (p.Leu68=)
|
rs1706200423
|
|
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.32A>T (p.Asp11Val)
|
|
|
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys)
|
rs747904374
|
|
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.421A>G (p.Met141Val)
|
rs1706285788
|
|
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.531+8C>T
|
rs374796686
|
|
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.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.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
|
|