NM_000527.4(LDLR):c.1045del (p.Gln349fs)
|
rs879254765 |
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
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|
NM_000527.4(LDLR):c.313+1G>A
|
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NM_000527.4(LDLR):c.694+2T>C
|
rs200238879 |
NM_000527.4(LDLR):c.865del (p.Cys289fs)
|
rs879254696 |
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230 |
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)
|
rs879254758 |
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
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NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter)
|
rs13306515 |
NM_000527.5(LDLR):c.1060+10G>A
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NM_000527.5(LDLR):c.1061-1G>A
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rs879254774 |
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)
|
rs879254781 |
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val)
|
rs879254808 |
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu)
|
rs879254810 |
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
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rs149227308 |
NM_000527.5(LDLR):c.1187-10G>A
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NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
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NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
|
rs552422789 |
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025 |
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu)
|
rs879254853 |
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)
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rs745343524 |
NM_000527.5(LDLR):c.1358+1G>A
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rs775924858 |
NM_000527.5(LDLR):c.1358+2T>A
|
rs193922567 |
NM_000527.5(LDLR):c.1359-1G>A
|
rs139617694 |
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
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NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102 |
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)
|
rs879254892 |
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn)
|
rs879254895 |
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
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NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser)
|
rs879254912 |
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro)
|
rs879254921 |
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
|
rs730882103 |
NM_000527.5(LDLR):c.1586+1G>A
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NM_000527.5(LDLR):c.1586+5G>A
|
rs781362878 |
NM_000527.5(LDLR):c.1587-2A>T
|
rs879254947 |
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val)
|
rs28942082 |
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn)
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rs879254989 |
NM_000527.5(LDLR):c.1705+1G>T
|
rs875989926 |
NM_000527.5(LDLR):c.1705+2_1705+3insC
|
rs879254994 |
NM_000527.5(LDLR):c.1706-10G>A
|
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NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)
|
rs185098634 |
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109 |
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
|
rs879255025 |
NM_000527.5(LDLR):c.1845+2T>C
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NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711 |
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
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NM_000527.5(LDLR):c.191-1G>A
|
rs879254433 |
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584 |
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val)
|
rs879255075 |
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081 |
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110 |
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936 |
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe)
|
rs879255085 |
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly)
|
rs879255086 |
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro)
|
rs773693079 |
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp)
|
rs879255137 |
NM_000527.5(LDLR):c.2140+1G>A
|
rs145787161 |
NM_000527.5(LDLR):c.2140+5G>A
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NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)
|
rs370018159 |
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
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NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291 |
NM_000527.5(LDLR):c.2311+1G>T
|
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NM_000527.5(LDLR):c.2311+2T>G
|
rs879255176 |
NM_000527.5(LDLR):c.233G>A (p.Arg78His)
|
rs146675823 |
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
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NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964 |
NM_000527.5(LDLR):c.2547+5G>C
|
rs879255226 |
NM_000527.5(LDLR):c.2548-12A>G
|
rs771336748 |
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
|
rs749038326 |
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.313+1G>C
|
rs112029328 |
NM_000527.5(LDLR):c.313+1G>T
|
rs112029328 |
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292 |
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461 |
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr)
|
rs730882080 |
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)
|
rs879254390 |
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter)
|
rs769318035 |
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)
|
rs879254569 |
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672 |
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile)
|
rs879254585 |
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044 |
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
|
rs577934998 |
NM_000527.5(LDLR):c.67+2T>A
|
rs879254394 |
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)
|
rs121908028 |
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
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NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000 |
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
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NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
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NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
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NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)
|
rs375495026 |
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165 |
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr)
|
rs121908030 |
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)
|
rs879254717 |
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254 |
NM_000527.5(LDLR):c.940+1G>C
|
rs879254729 |
NM_000527.5(LDLR):c.940+2T>A
|
rs875989912 |
NM_000527.5(LDLR):c.941-12G>A
|
rs879254734 |
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
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NM_000527.5(LDLR):c.979C>T (p.His327Tyr)
|
rs747507019 |
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)
|
rs761954844 |
NM_001195798.2(LDLR):c.1204_1206TTC[1] (p.Phe403del)
|
rs879254830 |
NM_001195798.2(LDLR):c.1494_1495CT[1] (p.Ser499fs)
|
rs879254922 |
NM_001195798.2(LDLR):c.313+1dup
|
rs879254466 |