NM_000527.4(LDLR):c.-135C>G
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NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg)
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rs763147599 |
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly)
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rs1057519677 |
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter)
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rs1057516127 |
NM_000527.4(LDLR):c.313+1G>A
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NM_000527.4(LDLR):c.377T>C (p.Phe126Ser)
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rs879254502 |
NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr)
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rs879254506 |
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly)
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rs879254642 |
NM_000527.4(LDLR):c.694+2T>C
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rs200238879 |
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
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rs544453230 |
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys)
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rs879254750 |
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
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NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
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NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
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NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)
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rs879254800 |
NM_000527.5(LDLR):c.1187-10G>A
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NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys)
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rs879254837 |
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
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NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)
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rs552422789 |
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)
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rs137943601 |
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
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NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
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NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
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NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg)
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rs745343524 |
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
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rs5933 |
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
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rs879254866 |
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
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rs879254867 |
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
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NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
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rs879254913 |
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
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NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
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rs137853960 |
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro)
|
rs879254921 |
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)
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rs730882103 |
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
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NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
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rs730882106 |
NM_000527.5(LDLR):c.1586+5G>A
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rs781362878 |
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
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NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)
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rs879254965 |
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
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NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
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NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
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rs397509365 |
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)
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rs28942082 |
NM_000527.5(LDLR):c.1706-10G>A
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NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
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rs138947766 |
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
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rs730882109 |
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
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NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
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NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)
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rs879255025 |
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)
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rs879255038 |
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser)
|
rs879255054 |
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
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rs28942083 |
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
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NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
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NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
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NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
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rs138477254 |
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
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NM_000527.5(LDLR):c.2390-1G>C
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rs879255193 |
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
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NM_000527.5(LDLR):c.2416dup (p.Val806fs)
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NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
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NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
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rs137853964 |
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
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rs121908025 |
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)
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rs749038326 |
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
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NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
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rs879254459 |
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
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rs144172724 |
NM_000527.5(LDLR):c.313+2dup
|
rs875989897 |
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe)
|
rs121908042 |
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292 |
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
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rs879254492 |
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly)
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rs879254518 |
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
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NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
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rs879254522 |
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser)
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rs879254526 |
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
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rs879254535 |
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
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rs879254540 |
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp)
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rs752596535 |
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter)
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rs769318035 |
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
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rs121908033 |
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
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NM_000527.5(LDLR):c.539G>A (p.Trp180Ter)
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rs879254569 |
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
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rs557344672 |
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
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NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
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rs376459828 |
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
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rs121908044 |
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
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NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)
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rs577934998 |
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
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rs387906303 |
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
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rs768563000 |
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
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rs879254667 |
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
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NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
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rs875989907 |
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
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rs139043155 |
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
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NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
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NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
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NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
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rs140241383 |
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
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rs368657165 |
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
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rs875989909 |
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)
|
rs879254717 |
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
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rs879254742 |
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
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NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)
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rs879254749 |
NM_001195798.2(LDLR):c.1868_1870TCA[1] (p.Ile624del)
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NM_001195798.2(LDLR):c.961_963AAC[1] (p.Asn322del)
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NM_001195800.2(LDLR):c.314-1832_314-1830del
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rs121908027 |