NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
NM_000527.5(LDLR):c.1545C>T (p.Asn515=)
|
rs147896205
|
0.00183
|
NM_000527.5(LDLR):c.1194C>T (p.Ile398=)
|
rs13306498
|
0.00138
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000527.5(LDLR):c.1977C>A (p.Thr659=)
|
rs72658866
|
0.00032
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
NM_000527.5(LDLR):c.2389+23G>A
|
rs770347398
|
0.00006
|
NM_000527.5(LDLR):c.2574C>T (p.Asp858=)
|
rs139757711
|
0.00005
|
NM_000527.5(LDLR):c.660C>T (p.Pro220=)
|
rs143002616
|
0.00005
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
NM_000527.5(LDLR):c.1038G>A (p.Leu346=)
|
rs769228441
|
0.00003
|
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634
|
0.00002
|
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)
|
rs730882082
|
0.00002
|
NM_000527.5(LDLR):c.1047G>A (p.Gln349=)
|
rs986687163
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)
|
rs754536745
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1974C>T (p.Leu658=)
|
rs546153613
|
0.00001
|
NM_000527.5(LDLR):c.2025C>T (p.Gly675=)
|
rs778781895
|
0.00001
|
NM_000527.5(LDLR):c.2478C>T (p.Pro826=)
|
rs774831273
|
0.00001
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)
|
rs140807148
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)
|
rs767618089
|
0.00001
|
GRCh37/hg19 19p13.2(chr19:11210899-11222315)x3
|
|
|
GRCh37/hg19 19p13.2(chr19:11233850-11242283)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:11240189-11241992)x1
|
|
|
NM_000527.4(LDLR):c.-156C>T
|
rs879254364
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)
|
rs387906306
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala)
|
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn)
|
rs730882102
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg)
|
rs879254938
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter)
|
rs564258872
|
|
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe)
|
rs1131692213
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs)
|
rs879255020
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.2052C>T (p.Ala684=)
|
rs760034984
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu)
|
rs759858813
|
|
NM_000527.5(LDLR):c.2139A>G (p.Thr713=)
|
rs2147266672
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter)
|
rs879255210
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.2580G>A (p.Ala860=)
|
rs1285017808
|
|
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter)
|
rs199570811
|
|
NM_000527.5(LDLR):c.382del (p.Cys128fs)
|
|
|
NM_000527.5(LDLR):c.399C>T (p.Asp133=)
|
rs2077269856
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520
|
|
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
|
rs879254535
|
|
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)
|
rs879254544
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
NM_000527.5(LDLR):c.694+4T>G
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.880A>G (p.Lys294Glu)
|
rs879254703
|
|
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917
|
|
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
NM_000527.5(LDLR):c.981C>A (p.His327Gln)
|
rs1060499933
|
|