|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
|
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)
|
rs139624145
|
0.00004
|
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
|
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155
|
0.00004
|
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
|
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326
|
0.00002
|
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
|
NM_000527.5(LDLR):c.1359-1G>A
|
rs139617694
|
0.00001
|
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
|
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724
|
0.00001
|
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
|
NC_000019.10:g.(11089616_11100222)_(11107515_11110651)del
|
|
|
|
NC_000019.10:g.(?_11110652)_(11110771_?)del
|
|
|
|
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
|
|
|
|
NC_000019.9:g.(?_11222190)_(11227674_?)del
|
|
|
|
NC_000019.9:g.(?_11240188)_(11240347_?)del
|
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
|
NM_000527.5(LDLR):c.1027G>T (p.Gly343Cys)
|
rs730882096
|
|
|
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)
|
rs748300548
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
|
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu)
|
rs28942078
|
|
|
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu)
|
rs28942078
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
|
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)
|
rs745343524
|
|
|
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)
|
rs879254862
|
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
|
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter)
|
rs746939188
|
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
|
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)
|
rs879255000
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
|
NM_000527.5(LDLR):c.1A>C (p.Met1Leu)
|
rs879254382
|
|
|
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)
|
rs879254382
|
|
|
NM_000527.5(LDLR):c.2043C>G (p.Cys681Trp)
|
rs121908031
|
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159
|
|
|
NM_000527.5(LDLR):c.2389+2T>G
|
rs879255188
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
|
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys)
|
rs374045590
|
|
|
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter)
|
rs199570811
|
|
|
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)
|
rs771019366
|
|
|
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)
|
rs372828849
|
|
|
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)
|
rs377271627
|
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
|
NM_000527.5(LDLR):c.642G>A (p.Trp214Ter)
|
rs879254606
|
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
|
NM_000527.5(LDLR):c.718G>T (p.Glu240Ter)
|
rs768563000
|
|
|
NM_000527.5(LDLR):c.760C>T (p.Gln254Ter)
|
rs759109699
|
|
|
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr)
|
rs875989907
|
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
|
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
|
rs146651743
|
|
|
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)
|
rs375495026
|
|
|
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
|
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|