NM_003383.5(VLDLR):c.449-12C>T
|
rs73640152
|
0.00648
|
NM_003383.5(VLDLR):c.-171G>C
|
rs35763266
|
0.00593
|
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=)
|
rs79720897
|
0.00518
|
NM_003383.5(VLDLR):c.-111C>T
|
rs374367278
|
0.00109
|
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His)
|
rs35339834
|
0.00108
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg)
|
rs148487944
|
0.00053
|
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=)
|
rs115773578
|
0.00053
|
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)
|
rs754340855
|
0.00046
|
NM_003383.5(VLDLR):c.-122T>C
|
rs886063802
|
0.00044
|
NM_003383.5(VLDLR):c.792C>T (p.Cys264=)
|
rs141850403
|
0.00036
|
NM_003383.5(VLDLR):c.*16T>C
|
rs150475109
|
0.00029
|
NM_003383.5(VLDLR):c.*83C>T
|
rs755339168
|
0.00026
|
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser)
|
rs182216426
|
0.00026
|
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met)
|
rs145995735
|
0.00026
|
NM_003383.5(VLDLR):c.*48C>T
|
rs368949453
|
0.00024
|
NM_003383.5(VLDLR):c.582C>T (p.Gly194=)
|
rs148012674
|
0.00018
|
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His)
|
rs35948251
|
0.00017
|
NM_003383.5(VLDLR):c.*460G>A
|
rs550310153
|
0.00010
|
NM_003383.5(VLDLR):c.*63C>T
|
rs17848373
|
0.00010
|
NM_003383.5(VLDLR):c.-392C>T
|
rs867729388
|
0.00010
|
NM_003383.5(VLDLR):c.540C>T (p.Ser180=)
|
rs367872112
|
0.00009
|
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys)
|
rs754226022
|
0.00005
|
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=)
|
rs372963310
|
0.00004
|
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr)
|
rs116082439
|
0.00004
|
NM_003383.5(VLDLR):c.692G>A (p.Arg231His)
|
rs767529669
|
0.00003
|
NM_003383.5(VLDLR):c.-121C>T
|
rs886063803
|
0.00002
|
NM_001123385.2(BCOR):c.4693A>G (p.Thr1565Ala)
|
rs1289349820
|
0.00001
|
NM_001394062.1(MACF1):c.22313G>A (p.Arg7438Gln)
|
rs1218844508
|
0.00001
|
NM_003383.5(VLDLR):c.1066+14T>C
|
rs762128149
|
0.00001
|
46;XY;t(3;18)(q13.2;q11.2)dn
|
|
|
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281)
|
|
|
NM_001198533.2(OXR1):c.1957-11262G>A
|
|
|
NM_001198533.2(OXR1):c.2163+5G>A
|
rs760185933
|
|
NM_001198533.2(OXR1):c.221-21184C>T
|
|
|
NM_001198533.2(OXR1):c.2308G>A (p.Asp770Asn)
|
|
|
NM_003383.5(VLDLR):c.*490T>G
|
rs886063812
|
|
NM_003383.5(VLDLR):c.*517G>C
|
rs886063813
|
|
NM_003383.5(VLDLR):c.*595_*598dup
|
rs886063814
|
|
NM_003383.5(VLDLR):c.-113C>G
|
rs34433332
|
|
NM_003383.5(VLDLR):c.-167dup
|
rs886063801
|
|
NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC
|
rs1554617688
|
|
NM_003383.5(VLDLR):c.-25_-24insATCCAG
|
rs886063807
|
|
NM_003383.5(VLDLR):c.-335C>T
|
rs557105742
|
|
NM_003383.5(VLDLR):c.-42GGC[4]
|
rs71329437
|
|
NM_003383.5(VLDLR):c.-42GGC[5]
|
rs71329437
|
|
NM_003383.5(VLDLR):c.-42GGC[7]
|
rs71329437
|
|
NM_003383.5(VLDLR):c.-42GGC[9]
|
rs71329437
|
|
NM_003383.5(VLDLR):c.-56_-54del
|
rs886063804
|
|
NM_003383.5(VLDLR):c.1703+10C>G
|
rs372047946
|
|
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=)
|
rs886063811
|
|
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly)
|
rs777739092
|
|
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys)
|
rs886063808
|
|
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala)
|
rs886063809
|
|
NM_003383.5(VLDLR):c.943+10del
|
rs761373572
|
|
NM_032108.4(SEMA6B):c.1834G>A (p.Val612Met)
|
rs1279041694
|
|
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)
|
rs397517987
|
|