NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00004
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)
|
rs770111639
|
0.00002
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)
|
rs1479493690
|
0.00001
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)
|
rs991227431
|
0.00001
|
NC_000011.10:g.68906238_68929183del
|
|
|
NM_001374736.1(DST):c.3061-2A>T
|
rs1454639285
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.547C>T (p.Leu183Phe)
|
rs1584024072
|
|
NM_002180.3(IGHMBP2):c.1060+1G>T
|
rs1366461184
|
|
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)
|
rs776730737
|
|
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)
|
rs1332319177
|
|
NM_002180.3(IGHMBP2):c.1235+3A>G
|
rs1369278472
|
|
NM_002180.3(IGHMBP2):c.1277T>C (p.Leu426Pro)
|
rs1555247218
|
|
NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys)
|
rs1594451320
|
|
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)
|
rs571142182
|
|
NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro)
|
rs1594451536
|
|
NM_002180.3(IGHMBP2):c.1648_1649insG (p.Gln550fs)
|
rs1594454167
|
|
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)
|
rs1000091588
|
|
NM_002180.3(IGHMBP2):c.1743A>C (p.Arg581Ser)
|
rs1594454382
|
|
NM_002180.3(IGHMBP2):c.1748A>T (p.Asn583Ile)
|
rs1594454388
|
|
NM_002180.3(IGHMBP2):c.1756G>T (p.Gly586Cys)
|
rs56052951
|
|
NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys)
|
rs1465803265
|
|
NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs)
|
rs1594455576
|
|
NM_002180.3(IGHMBP2):c.1969C>T (p.Gln657Ter)
|
rs866417417
|
|
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)
|
rs750994603
|
|
NM_002180.3(IGHMBP2):c.50T>C (p.Leu17Pro)
|
rs1594412120
|
|
NM_002180.3(IGHMBP2):c.616C>T (p.Gln206Ter)
|
rs1594422624
|
|
NM_002180.3(IGHMBP2):c.647C>T (p.Pro216Leu)
|
rs1594422676
|
|
NM_002180.3(IGHMBP2):c.661A>G (p.Thr221Ala)
|
rs1594422709
|
|
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs)
|
rs779716706
|
|
NM_002180.3(IGHMBP2):c.721T>C (p.Cys241Arg)
|
rs1594427373
|
|
NM_002180.3(IGHMBP2):c.752T>C (p.Leu251Pro)
|
rs1594427489
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_003384.3(VRK1):c.656G>T (p.Arg219Ile)
|
rs1595676517
|
|
NM_003384.3(VRK1):c.761G>T (p.Trp254Leu)
|
rs1172497555
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)
|
rs121434378
|
|
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
|
rs28941475
|
|