NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val)
|
rs200475391
|
0.00045
|
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn)
|
rs199583537
|
0.00008
|
NM_004525.3(LRP2):c.5120C>T (p.Ser1707Phe)
|
rs745788682
|
0.00008
|
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)
|
rs202057289
|
0.00003
|
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter)
|
rs768458485
|
0.00001
|
NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys)
|
rs1474741555
|
0.00001
|
NM_004525.3(LRP2):c.188-2A>G
|
rs760114690
|
0.00001
|
NM_004525.3(LRP2):c.2639+1G>A
|
rs746752313
|
0.00001
|
NM_004525.3(LRP2):c.3667+1G>A
|
rs752197557
|
0.00001
|
NM_004525.3(LRP2):c.6283C>T (p.Arg2095Ter)
|
rs753549113
|
0.00001
|
NM_004525.3(LRP2):c.9575G>A (p.Arg3192Gln)
|
rs753667280
|
0.00001
|
GRCh37/hg19 2q31.1(chr2:170134234-170137049)
|
|
|
NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del
|
|
|
NC_000002.11:g.(?_169999164)_(170038849_?)dup
|
|
|
NM_004525.3(LRP2):c.10572-145_10582del
|
|
|
NM_004525.3(LRP2):c.10801T>C (p.Cys3601Arg)
|
|
|
NM_004525.3(LRP2):c.11245_11246del (p.Ser3749fs)
|
rs2105278575
|
|
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter)
|
rs372938477
|
|
NM_004525.3(LRP2):c.11497+1G>A
|
|
|
NM_004525.3(LRP2):c.11497+1G>C
|
|
|
NM_004525.3(LRP2):c.11759-1G>A
|
|
|
NM_004525.3(LRP2):c.11868del (p.Trp3956fs)
|
|
|
NM_004525.3(LRP2):c.11888-1G>T
|
|
|
NM_004525.3(LRP2):c.11888-2A>G
|
|
|
NM_004525.3(LRP2):c.12019+1G>A
|
|
|
NM_004525.3(LRP2):c.12244G>T (p.Glu4082Ter)
|
rs1057520861
|
|
NM_004525.3(LRP2):c.12461+1G>A
|
|
|
NM_004525.3(LRP2):c.12623C>A (p.Pro4208His)
|
rs2105348670
|
|
NM_004525.3(LRP2):c.12811+2T>G
|
|
|
NM_004525.3(LRP2):c.12988+1G>A
|
|
|
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.13388+2T>C
|
rs2105337522
|
|
NM_004525.3(LRP2):c.13568del (p.Asn4523fs)
|
rs1685554004
|
|
NM_004525.3(LRP2):c.13620+1G>T
|
|
|
NM_004525.3(LRP2):c.13620+2T>C
|
|
|
NM_004525.3(LRP2):c.1773-5_1802del
|
rs2105443879
|
|
NM_004525.3(LRP2):c.187+1G>C
|
|
|
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
|
|
|
NM_004525.3(LRP2):c.2117-13_2118del
|
|
|
NM_004525.3(LRP2):c.2159G>C (p.Arg720Pro)
|
|
|
NM_004525.3(LRP2):c.2321-1G>T
|
rs1064796610
|
|
NM_004525.3(LRP2):c.2514-2A>C
|
|
|
NM_004525.3(LRP2):c.2771-1G>A
|
|
|
NM_004525.3(LRP2):c.310+1G>C
|
|
|
NM_004525.3(LRP2):c.3191-2A>G
|
|
|
NM_004525.3(LRP2):c.3551-1G>A
|
|
|
NM_004525.3(LRP2):c.3667+1G>C
|
|
|
NM_004525.3(LRP2):c.3667+2T>A
|
|
|
NM_004525.3(LRP2):c.3889G>T (p.Gly1297Trp)
|
|
|
NM_004525.3(LRP2):c.427+1G>A
|
|
|
NM_004525.3(LRP2):c.427+1del
|
|
|
NM_004525.3(LRP2):c.427+2T>G
|
|
|
NM_004525.3(LRP2):c.4295-2A>G
|
rs1064796497
|
|
NM_004525.3(LRP2):c.4733G>C (p.Arg1578Pro)
|
rs111733491
|
|
NM_004525.3(LRP2):c.538+2T>G
|
|
|
NM_004525.3(LRP2):c.6040+4_6040+7del
|
rs2105343563
|
|
NM_004525.3(LRP2):c.7557-1G>A
|
|
|
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)
|
rs80338747
|
|
NM_004525.3(LRP2):c.7568G>A (p.Trp2523Ter)
|
|
|
NM_004525.3(LRP2):c.769+1G>A
|
|
|
NM_004525.3(LRP2):c.7840A>T (p.Arg2614Ter)
|
rs2105329431
|
|
NM_004525.3(LRP2):c.80-2A>C
|
rs2105516384
|
|
NM_004525.3(LRP2):c.8095C>T (p.Arg2699Ter)
|
rs1236195196
|
|
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter)
|
rs1358532875
|
|
NM_004525.3(LRP2):c.857G>T (p.Cys286Phe)
|
rs2105467271
|
|
NM_004525.3(LRP2):c.8613C>A (p.Cys2871Ter)
|
rs772158739
|
|
NM_004525.3(LRP2):c.8687del (p.Pro2896fs)
|
rs1574121486
|
|
NM_004525.3(LRP2):c.8932T>C (p.Cys2978Arg)
|
|
|
NM_004525.3(LRP2):c.923-2A>G
|
|
|
NM_004525.3(LRP2):c.9449G>A (p.Cys3150Tyr)
|
|
|
NM_004525.3(LRP2):c.9733G>T (p.Asp3245Tyr)
|
rs759025536
|
|