NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)
|
rs188119157
|
0.00003
|
NM_001384474.1(LOXHD1):c.4212+5G>A
|
rs752553552
|
0.00003
|
NM_001384474.1(LOXHD1):c.760-2del
|
rs770408532
|
0.00003
|
NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter)
|
rs527536011
|
0.00002
|
NM_001384474.1(LOXHD1):c.1431+2T>C
|
rs1456597732
|
0.00001
|
NM_001384474.1(LOXHD1):c.1810-2A>T
|
rs1410967693
|
0.00001
|
NM_001384474.1(LOXHD1):c.246-2A>G
|
rs763062406
|
0.00001
|
NM_001384474.1(LOXHD1):c.326+1G>A
|
rs1215109986
|
0.00001
|
NM_001384474.1(LOXHD1):c.3514+1G>A
|
rs1463849219
|
0.00001
|
NM_001384474.1(LOXHD1):c.4531-2A>G
|
rs951333133
|
0.00001
|
NM_001384474.1(LOXHD1):c.4741-1G>A
|
rs1057524755
|
0.00001
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)
|
rs1223508098
|
0.00001
|
NM_001384474.1(LOXHD1):c.5085+1G>T
|
rs1418245706
|
0.00001
|
NM_001384474.1(LOXHD1):c.6050-2A>G
|
rs1258811765
|
0.00001
|
GRCh37/hg19 18q21.1(chr18:44219579-44221999)x1
|
|
|
NC_000018.9:g.(?_44104661)_(44109304_?)dup
|
|
|
NM_001384474.1(LOXHD1):c.1134+2T>C
|
rs1599040620
|
|
NM_001384474.1(LOXHD1):c.1135-1G>C
|
rs2144247310
|
|
NM_001384474.1(LOXHD1):c.1271-1G>T
|
|
|
NM_001384474.1(LOXHD1):c.1431+1G>T
|
|
|
NM_001384474.1(LOXHD1):c.1432-2A>G
|
rs2144235927
|
|
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter)
|
rs2038190712
|
|
NM_001384474.1(LOXHD1):c.1810-1G>A
|
rs2144135103
|
|
NM_001384474.1(LOXHD1):c.1970+1G>A
|
rs2037884594
|
|
NM_001384474.1(LOXHD1):c.1970+2T>C
|
|
|
NM_001384474.1(LOXHD1):c.2047+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.2047+1G>T
|
rs867069460
|
|
NM_001384474.1(LOXHD1):c.2244+1G>A
|
rs1296156738
|
|
NM_001384474.1(LOXHD1):c.2244+2T>G
|
rs1555681351
|
|
NM_001384474.1(LOXHD1):c.2437+1G>C
|
|
|
NM_001384474.1(LOXHD1):c.245+2T>C
|
|
|
NM_001384474.1(LOXHD1):c.2598+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.2598+1G>C
|
rs1555680544
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.3061+1G>T
|
rs537227442
|
|
NM_001384474.1(LOXHD1):c.3062-2A>G
|
|
|
NM_001384474.1(LOXHD1):c.3216+1G>T
|
rs2144002229
|
|
NM_001384474.1(LOXHD1):c.327-1G>A
|
rs2144376621
|
|
NM_001384474.1(LOXHD1):c.327-2A>G
|
rs2038940533
|
|
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly)
|
rs543098936
|
|
NM_001384474.1(LOXHD1):c.3325A>T (p.Ile1109Phe)
|
|
|
NM_001384474.1(LOXHD1):c.3350+1G>A
|
rs1301706601
|
|
NM_001384474.1(LOXHD1):c.3350+1G>C
|
rs1301706601
|
|
NM_001384474.1(LOXHD1):c.3514+1G>C
|
|
|
NM_001384474.1(LOXHD1):c.3913+2T>A
|
rs901636863
|
|
NM_001384474.1(LOXHD1):c.3913+2T>C
|
|
|
NM_001384474.1(LOXHD1):c.3914-1G>A
|
rs2036406936
|
|
NM_001384474.1(LOXHD1):c.4095+1G>A
|
rs1280052681
|
|
NM_001384474.1(LOXHD1):c.4213-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.4213-2A>G
|
rs1317094682
|
|
NM_001384474.1(LOXHD1):c.4375+1G>T
|
rs2036150181
|
|
NM_001384474.1(LOXHD1):c.4376-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.4531-2A>T
|
rs951333133
|
|
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)
|
rs75949023
|
|
NM_001384474.1(LOXHD1):c.4740+1G>A
|
rs2144167172
|
|
NM_001384474.1(LOXHD1):c.4877-2A>G
|
|
|
NM_001384474.1(LOXHD1):c.5085+2T>G
|
|
|
NM_001384474.1(LOXHD1):c.512-2A>C
|
rs1201905882
|
|
NM_001384474.1(LOXHD1):c.512-2A>T
|
|
|
NM_001384474.1(LOXHD1):c.5272-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.5400-2A>C
|
|
|
NM_001384474.1(LOXHD1):c.5518-1G>A
|
rs2143921132
|
|
NM_001384474.1(LOXHD1):c.5518-1G>T
|
rs2143921132
|
|
NM_001384474.1(LOXHD1):c.5692+1G>A
|
|
|
NM_001384474.1(LOXHD1):c.5693-1G>T
|
|
|
NM_001384474.1(LOXHD1):c.5693-2A>C
|
|
|
NM_001384474.1(LOXHD1):c.5879-1G>T
|
rs1444945856
|
|
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer)
|
rs2033274775
|
|
NM_001384474.1(LOXHD1):c.6049+1del
|
|
|
NM_001384474.1(LOXHD1):c.6050-1G>A
|
rs2143559471
|
|
NM_001384474.1(LOXHD1):c.608_610+3del
|
|
|
NM_001384474.1(LOXHD1):c.610+2T>A
|
|
|
NM_001384474.1(LOXHD1):c.611-2A>C
|
rs1287270284
|
|
NM_001384474.1(LOXHD1):c.611-2A>T
|
|
|
NM_001384474.1(LOXHD1):c.6182+1G>T
|
rs200375658
|
|
NM_001384474.1(LOXHD1):c.6183-1G>A
|
|
|
NM_001384474.1(LOXHD1):c.6183-2A>C
|
|
|
NM_001384474.1(LOXHD1):c.6183-2A>T
|
|
|
NM_001384474.1(LOXHD1):c.6234del (p.Ser2079fs)
|
rs2032781418
|
|
NM_001384474.1(LOXHD1):c.6498del (p.Ala2168fs)
|
rs2032148329
|
|
NM_001384474.1(LOXHD1):c.759+1G>C
|
rs2038495632
|
|
NM_001384474.1(LOXHD1):c.760-1G>C
|
rs2144294201
|
|
NM_001384474.1(LOXHD1):c.883+2T>C
|
|
|