NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554
|
0.00003
|
NM_000527.5(LDLR):c.429C>A (p.Cys143Ter)
|
rs199774121
|
0.00001
|
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689
|
0.00001
|
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907
|
0.00001
|
FH Cape Town 2
|
|
|
FH London 1
|
|
|
NM_000527.4(LDLR):c.1187-?_1586+?del
|
|
|
NM_000527.4(LDLR):c.1587-?_1845+?del
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.4(LDLR):c.1846-?_2311+?del
|
|
|
NM_000527.4(LDLR):c.2141-?_2311+?del
|
|
|
NM_000527.4(LDLR):c.2312-?_*2514del
|
|
|
NM_000527.4(LDLR):c.2312-?_2389+?del
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
NM_000527.4(LDLR):c.314-?_940+?del
|
|
|
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879
|
|
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter)
|
rs767024374
|
|
NM_000527.5(LDLR):c.1045del (p.Gln349fs)
|
rs879254765
|
|
NM_000527.5(LDLR):c.1046dup (p.Arg350fs)
|
rs1555804545
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
NM_000527.5(LDLR):c.1067del (p.Asp356fs)
|
rs879254778
|
|
NM_000527.5(LDLR):c.108del (p.Asp36fs)
|
rs879254409
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr)
|
rs879254804
|
|
NM_000527.5(LDLR):c.114dup (p.Cys39fs)
|
rs879254410
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer)
|
rs879254412
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)
|
rs201016593
|
|
NM_000527.5(LDLR):c.1200C>A (p.Tyr400Ter)
|
rs879254827
|
|
NM_000527.5(LDLR):c.1208del (p.Phe403fs)
|
rs879254832
|
|
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.12G>A (p.Trp4Ter)
|
rs756039188
|
|
NM_000527.5(LDLR):c.1326C>G (p.Tyr442Ter)
|
rs879254865
|
|
NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter)
|
rs879254867
|
|
NM_000527.5(LDLR):c.1336del (p.Leu446fs)
|
rs879254868
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
NM_000527.5(LDLR):c.1358+1G>A
|
rs775924858
|
|
NM_000527.5(LDLR):c.140_153del (p.Asp47fs)
|
rs1555802291
|
|
NM_000527.5(LDLR):c.1423_1424delinsA (p.Ala475fs)
|
rs879254896
|
|
NM_000527.5(LDLR):c.1434del (p.Leu479fs)
|
rs879254899
|
|
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)
|
rs875989921
|
|
NM_000527.5(LDLR):c.1498_1499del (p.Val500fs)
|
rs879254923
|
|
NM_000527.5(LDLR):c.1502dup (p.Asp502fs)
|
rs879254924
|
|
NM_000527.5(LDLR):c.1587-5_1618del
|
rs1555805930
|
|
NM_000527.5(LDLR):c.1596C>G (p.Tyr532Ter)
|
rs1555805947
|
|
NM_000527.5(LDLR):c.1599G>A (p.Trp533Ter)
|
rs879254952
|
|
NM_000527.5(LDLR):c.1607G>A (p.Trp536Ter)
|
rs879254957
|
|
NM_000527.5(LDLR):c.1609G>T (p.Gly537Ter)
|
rs879254958
|
|
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter)
|
rs879254985
|
|
NM_000527.5(LDLR):c.1705+1del
|
rs879254992
|
|
NM_000527.5(LDLR):c.1706-2A>C
|
rs878854027
|
|
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)
|
rs879255000
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.1757C>G (p.Ser586Ter)
|
rs1555806455
|
|
NM_000527.5(LDLR):c.1778del (p.Gly593fs)
|
rs875989931
|
|
NM_000527.5(LDLR):c.1815_1825del (p.Ala606fs)
|
rs879255032
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
NM_000527.5(LDLR):c.1878del (p.Ala627fs)
|
rs1057516134
|
|
NM_000527.5(LDLR):c.191-2A>G
|
rs544203837
|
|
NM_000527.5(LDLR):c.191-2delinsCT
|
rs879254432
|
|
NM_000527.5(LDLR):c.1988-2A>T
|
rs879255101
|
|
NM_000527.5(LDLR):c.2001T>A (p.Cys667Ter)
|
rs879255109
|
|
NM_000527.5(LDLR):c.2011del (p.Thr671fs)
|
rs1555807356
|
|
NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter)
|
rs879255114
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
NM_000527.5(LDLR):c.2063dup (p.Asn688fs)
|
rs879255128
|
|
NM_000527.5(LDLR):c.2085_2103del (p.Ala697fs)
|
rs879255133
|
|
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161
|
|
NM_000527.5(LDLR):c.214del (p.Asp72fs)
|
rs879254438
|
|
NM_000527.5(LDLR):c.2184del (p.Arg728fs)
|
rs879255157
|
|
NM_000527.5(LDLR):c.2207dup (p.Arg737fs)
|
rs879255164
|
|
NM_000527.5(LDLR):c.2266del (p.Thr756fs)
|
rs879255169
|
|
NM_000527.5(LDLR):c.2270del (p.Pro757fs)
|
rs1131692223
|
|
NM_000527.5(LDLR):c.2282_2309del (p.Thr761fs)
|
rs1555808143
|
|
NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176
|
|
NM_000527.5(LDLR):c.232del (p.Arg78fs)
|
rs879254442
|
|
NM_000527.5(LDLR):c.2390-1G>A
|
rs879255193
|
|
NM_000527.5(LDLR):c.2390-1G>C
|
rs879255193
|
|
NM_000527.5(LDLR):c.2390-2A>G
|
rs767790696
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2399_2403delinsGGGT (p.Val800fs)
|
rs879255198
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
NM_000527.5(LDLR):c.2439G>A (p.Trp813Ter)
|
rs121908032
|
|
NM_000527.5(LDLR):c.2544dup (p.Ser849fs)
|
rs879255222
|
|
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter)
|
rs199570811
|
|
NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer)
|
rs879254453
|
|
NM_000527.5(LDLR):c.313+1G>C
|
rs112029328
|
|
NM_000527.5(LDLR):c.338_353del (p.Glu113fs)
|
rs879254480
|
|
NM_000527.5(LDLR):c.33_36dup (p.Ala13fs)
|
rs879254387
|
|
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)
|
rs879254482
|
|
NM_000527.5(LDLR):c.440_450dup (p.Ala151fs)
|
rs1555803254
|
|
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)
|
rs879254534
|
|
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)
|
rs879254536
|
|
NM_000527.5(LDLR):c.513dup (p.Asp172fs)
|
rs879254552
|
|
NM_000527.5(LDLR):c.518del (p.Cys173fs)
|
rs879254559
|
|
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter)
|
rs769318035
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
NM_000527.5(LDLR):c.564C>A (p.Tyr188Ter)
|
rs121908034
|
|
NM_000527.5(LDLR):c.593C>A (p.Ser198Ter)
|
rs748672083
|
|
NM_000527.5(LDLR):c.661G>T (p.Asp221Tyr)
|
rs875989906
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe)
|
rs730882086
|
|
NM_000527.5(LDLR):c.67+1G>T
|
rs762417023
|
|
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303
|
|
NM_000527.5(LDLR):c.671_675del (p.Asp224fs)
|
rs1555803455
|
|
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)
|
rs879254635
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
NM_000527.5(LDLR):c.817+2T>G
|
rs879254686
|
|
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)
|
rs2228671
|
|
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
|
rs146651743
|
|
NM_000527.5(LDLR):c.874del (p.Leu292fs)
|
rs879254700
|
|
NM_000527.5(LDLR):c.884del (p.Val295fs)
|
rs879254705
|
|
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
|
|
|
NM_000527.5(LDLR):c.916_919dup (p.Asp307fs)
|
rs879254718
|
|
NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)
|
rs776421777
|
|
NM_000527.5(LDLR):c.91_104del (p.Glu31fs)
|
rs1555802259
|
|
NM_000527.5(LDLR):c.928dup (p.Ile310fs)
|
rs1555803912
|
|
NM_000527.5(LDLR):c.934G>T (p.Glu312Ter)
|
rs879254725
|
|
NM_000527.5(LDLR):c.969del (p.Gly324fs)
|
rs879254744
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
NM_000527.5(LDLR):c.987C>A (p.Cys329Ter)
|
rs1555804467
|
|
NM_000527.5(LDLR):c.9del (p.Trp4fs)
|
rs879254384
|
|