|
NC_000001.11:g.161223893G>A
|
rs5082
|
0.67600
|
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
|
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025
|
0.00001
|
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
|
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)
|
rs121908040
|
0.00001
|
|
FH Aarhus
|
|
|
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FH Bologna 2
|
|
|
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FH Cape Town 2
|
|
|
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FH French Canadian 5
|
|
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FH Leiden 2
|
|
|
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FH London 1
|
|
|
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FH London 2
|
|
|
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FH Osaka 2
|
|
|
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FH Paris 1
|
rs1555803632
|
|
|
FH Reykjavik
|
|
|
|
FH Tonami 1
|
|
|
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FH Tsukuba 2
|
|
|
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FH Vancouver 2
|
|
|
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FH Vancouver 3
|
|
|
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FH Vancouver 4
|
|
|
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FH Vancouver 6
|
|
|
|
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
|
|
|
|
LDLR, EX17-18DEL
|
|
|
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NC_000019.10:g.(11077742_11077775)_(11093595_11093630)del
|
|
|
|
NC_000019.10:g.11089411del
|
rs387906307
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
|
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp)
|
rs387906306
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
|
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)
|
rs875989916
|
|
|
NM_000527.5(LDLR):c.1202T>A (p.Leu401His)
|
rs121908038
|
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
|
NM_000527.5(LDLR):c.1297G>C (p.Asp433His)
|
rs121908036
|
|
|
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)
|
rs267607213
|
|
|
NM_000527.5(LDLR):c.137G>C (p.Cys46Ser)
|
rs121908041
|
|
|
NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del)
|
rs387906301
|
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
|
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)
|
rs28942082
|
|
|
NM_000527.5(LDLR):c.1891_2311+1062del
|
|
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
|
NM_000527.5(LDLR):c.2140+86C>G
|
rs587776886
|
|
|
NM_000527.5(LDLR):c.2311+251_*813del
|
|
|
|
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter)
|
rs121908032
|
|
|
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs)
|
rs387906302
|
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
|
|
|
NM_000527.5(LDLR):c.2531G>A (p.Gly844Asp)
|
rs121908037
|
|
|
NM_000527.5(LDLR):c.326G>C (p.Cys109Ser)
|
rs121908042
|
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
|
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter)
|
rs121908034
|
|
|
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044
|
|
|
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)
|
rs121908027
|
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
|
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)
|
rs387906305
|
|
|
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
|
NM_000527.5(LDLR):c.925_931del (p.Pro309fs)
|
rs387906304
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
|
NM_000527.5:c.(190+1_191-1)_(817+1_818-1)dup
|
|
|
|
NM_000527.5:c.(67+1_68-1)_(1845+1_1846-1)del
|
|
|