NM_174936.4(PCSK9):c.141C>T (p.Ser47=)
|
rs28385701
|
0.00815
|
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)
|
rs41297883
|
0.00500
|
NM_000384.3(APOB):c.1470+15T>C
|
rs185550846
|
0.00078
|
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp)
|
rs200583769
|
0.00024
|
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile)
|
rs143710616
|
0.00019
|
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys)
|
rs539080792
|
0.00016
|
NM_000384.3(APOB):c.11466G>A (p.Val3822=)
|
rs755842633
|
0.00011
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
NM_000384.3(APOB):c.10262T>C (p.Met3421Thr)
|
rs755119833
|
0.00003
|
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr)
|
rs375582388
|
0.00003
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
NM_000384.3(APOB):c.1266A>G (p.Ser422=)
|
rs752197838
|
0.00001
|
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)
|
rs779732323
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp)
|
rs754936553
|
0.00001
|
FH Bologna 2
|
|
|
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
|
|
|
NM_000384.3(APOB):c.10163C>T (p.Thr3388Ile)
|
rs1553383038
|
|
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
|
|
|
NM_000384.3(APOB):c.2184T>C (p.Asp728=)
|
rs1325443043
|
|
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)
|
rs541497967
|
|
NM_000384.3(APOB):c.6979G>A (p.Asp2327Asn)
|
rs1553383590
|
|
NM_000384.3(APOB):c.814_816del (p.Tyr272del)
|
rs1553386960
|
|
NM_000527.4(LDLR):c.-135C>A
|
rs879254375
|
|
NM_000527.4(LDLR):c.-140C>A
|
|
|
NM_000527.4(LDLR):c.-227G>C
|
rs1555800612
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000527.5(LDLR):c.1186+5G>A
|
rs879254821
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.170A>C (p.Asp57Ala)
|
rs1555802310
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
NM_000527.5(LDLR):c.1895A>T (p.Asn632Ile)
|
rs1202258257
|
|
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)
|
rs774467219
|
|
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)
|
rs879254457
|
|
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)
|
rs875989895
|
|
NM_000527.5(LDLR):c.690C>T (p.Asn230=)
|
rs879254643
|
|
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)
|
rs879254659
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)
|
rs879254697
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_174936.4(PCSK9):c.1480A>G (p.Lys494Glu)
|
rs1553137710
|
|