NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile)
|
rs1302190999
|
0.00003
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00002
|
NM_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000191.3(HMGCL):c.497+4A>G
|
rs568718845
|
0.00001
|
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter)
|
rs200189529
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)
|
rs757884073
|
0.00001
|
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)
|
rs1425615804
|
0.00001
|
NM_000191.3(HMGCL):c.121dup (p.Arg41fs)
|
rs1553133042
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
NM_000191.3(HMGCL):c.413del (p.Asn138fs)
|
rs1553132520
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.562-2A>G
|
rs1553131955
|
|
NM_000191.3(HMGCL):c.60+1G>T
|
rs1324641233
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup)
|
rs1553131921
|
|
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter)
|
rs765198174
|
|
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)
|
rs1287973337
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)
|
rs1553131326
|
|
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)
|
rs1553131320
|
|
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)
|
rs1303767209
|
|