NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr)
|
rs1193634362
|
0.00001
|
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys)
|
rs1303837541
|
0.00001
|
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)
|
rs769046350
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)
|
rs1057518943
|
0.00001
|
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)
|
rs199839840
|
0.00001
|
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr)
|
rs761789207
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+1G>A
|
rs1057518588
|
0.00001
|
NC_000011.9:g.(?_68682281)_(68682501_?)del
|
|
|
NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]
|
|
|
NM_002180.3(IGHMBP2):c.1060+1G>T
|
rs1366461184
|
|
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys)
|
rs1178427226
|
|
NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu)
|
rs35193202
|
|
NM_002180.3(IGHMBP2):c.1235+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.1235+894C>A
|
rs1202430946
|
|
NM_002180.3(IGHMBP2):c.1236-1G>T
|
rs1124336
|
|
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
|
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)
|
rs571142182
|
|
NM_002180.3(IGHMBP2):c.1418+1G>C
|
rs1160978570
|
|
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro)
|
rs2154008646
|
|
NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro)
|
rs2154008654
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1633-2A>G
|
rs1566445029
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)
|
rs1240319744
|
|
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg)
|
rs1057518943
|
|
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
|
|
|
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
|
rs1225532037
|
|
NM_002180.3(IGHMBP2):c.256+5G>C
|
|
|
NM_002180.3(IGHMBP2):c.257-2A>G
|
rs1566424655
|
|
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759
|
|
NM_002180.3(IGHMBP2):c.34_35insCC (p.Lys12fs)
|
rs1858067021
|
|
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)
|
rs972425138
|
|
NM_002180.3(IGHMBP2):c.449+2T>A
|
|
|
NM_002180.3(IGHMBP2):c.449+2del
|
|
|
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
|
|
|
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)
|
rs137852666
|
|
NM_002180.3(IGHMBP2):c.688C>G (p.Gln230Glu)
|
rs1555243325
|
|
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)
|
rs1594427410
|
|
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu)
|
rs777575504
|
|
NM_002180.3(IGHMBP2):c.86+1G>T
|
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_002180.3(IGHMBP2):c.905_912+85del
|
|
|
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)
|
rs746581714
|
|