NM_000527.4(LDLR):c.-135C>G
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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.1774G>A (p.Gly592Arg)
|
rs763147599 |
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677 |
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127 |
NM_000527.4(LDLR):c.377T>C (p.Phe126Ser)
|
rs879254502 |
NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr)
|
rs879254506 |
NM_000527.4(LDLR):c.68-1G>A
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rs879254397 |
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly)
|
rs879254642 |
NM_000527.4(LDLR):c.694+2T>C
|
rs200238879 |
NM_000527.4(LDLR):c.865del (p.Cys289fs)
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rs879254696 |
NM_000527.4(LDLR):c.985T>C (p.Cys329Arg)
|
rs879254749 |
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.1056C>A (p.Cys352Ter)
|
rs13306515 |
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr)
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rs875989915 |
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
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NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser)
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rs768430352 |
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.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.1268T>C (p.Ile423Thr)
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rs879254849 |
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)
|
rs745343524 |
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met)
|
rs5933 |
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)
|
rs879254866 |
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867 |
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
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NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs)
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rs879254892 |
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn)
|
rs879254913 |
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)
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rs730880130 |
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
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NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro)
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rs879254921 |
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
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NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)
|
rs730882106 |
NM_000527.5(LDLR):c.1586+1G>A
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NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg)
|
rs879254951 |
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
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NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)
|
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)
|
rs397509365 |
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala)
|
rs28942082 |
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg)
|
rs879255000 |
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)
|
rs879255000 |
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser)
|
rs138947766 |
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)
|
rs875989929 |
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro)
|
rs875989930 |
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)
|
rs879255025 |
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro)
|
rs875989932 |
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe)
|
rs879255038 |
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys)
|
rs879255045 |
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047 |
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser)
|
rs879255054 |
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr)
|
rs879255066 |
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)
|
rs879254426 |
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp)
|
rs794728584 |
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081 |
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936 |
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611 |
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
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NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083 |
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr)
|
rs774730452 |
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.2389G>A (p.Val797Met)
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NM_000527.5(LDLR):c.2390-1G>C
|
rs879255193 |
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
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NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
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NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)
|
rs879255217 |
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)
|
rs121908025 |
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
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NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)
|
rs879254459 |
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)
|
rs144172724 |
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)
|
rs875989895 |
NM_000527.5(LDLR):c.313+2dup
|
rs875989897 |
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)
|
rs879254476 |
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe)
|
rs121908042 |
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg)
|
rs879254492 |
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly)
|
rs879254518 |
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
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NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)
|
rs879254520 |
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr)
|
rs879254522 |
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr)
|
rs879254526 |
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser)
|
rs879254526 |
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)
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rs879254535 |
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr)
|
rs879254536 |
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)
|
rs879254540 |
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp)
|
rs752596535 |
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)
|
rs200727689 |
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)
|
rs879254554 |
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter)
|
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)
|
rs879254569 |
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)
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rs879254572 |
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
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NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)
|
rs730882085 |
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828 |
NM_000527.5(LDLR):c.621C>T (p.Gly207=)
|
rs121908044 |
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)
|
rs875989906 |
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
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NM_000527.5(LDLR):c.665G>T (p.Cys222Phe)
|
rs730882086 |
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn)
|
rs387906303 |
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)
|
rs879254667 |
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)
|
rs875989907 |
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)
|
rs139043155 |
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)
|
rs879254682 |
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383 |
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)
|
rs879254707 |
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)
|
rs875989909 |
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser)
|
rs879254717 |
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)
|
rs11547917 |
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254 |
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp)
|
rs13306512 |
NM_000527.5(LDLR):c.941-2A>G
|
rs112366278 |
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile)
|
rs879254742 |
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly)
|
rs879254749 |
NM_001195798.2(LDLR):c.1494_1495CT[1] (p.Ser499fs)
|
rs879254922 |
NM_001195798.2(LDLR):c.1868_1870TCA[1] (p.Ile624del)
|
|
NM_001195798.2(LDLR):c.961_963AAC[1] (p.Asn322del)
|
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NM_001195800.2(LDLR):c.314-1832_314-1830del
|
rs121908027 |