|
FH Bologna 2
|
|
|
|
FH Cape Town 2
|
|
|
|
FH London 1
|
|
|
|
NC_000019.10:g.11089321G>C
|
|
|
|
NC_000019.10:g.11089397C>T
|
|
|
|
NC_000019.10:g.11089414C>G
|
|
|
|
NC_000019.10:g.11089461G>A
|
|
|
|
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
|
|
|
|
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
|
|
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
|
NM_000384.3(APOB):c.10583C>T (p.Ser3528Phe)
|
|
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
|
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
|
|
|
|
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
|
|
|
|
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
|
|
|
|
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
|
|
|
|
NM_000384.3(APOB):c.1166A>G (p.Gln389Arg)
|
|
|
|
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
|
|
|
|
NM_000384.3(APOB):c.11789-2A>C
|
|
|
|
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
|
|
|
|
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
|
|
|
|
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
|
|
|
|
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
|
|
|
|
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
|
|
|
|
NM_000384.3(APOB):c.12824A>C (p.Asp4275Ala)
|
|
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
|
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
|
|
|
|
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
|
|
|
|
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
|
|
|
|
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
|
|
|
|
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)
|
rs562574661
|
|
|
NM_000384.3(APOB):c.13555A>G (p.Arg4519Gly)
|
|
|
|
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
|
|
|
|
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
|
|
|
|
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
|
|
|
|
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
|
|
|
|
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
|
|
|
|
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
|
|
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
|
|
|
|
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
|
|
|
|
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
|
|
|
|
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
|
|
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
|
NM_000384.3(APOB):c.3012del (p.Glu1004fs)
|
|
|
|
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
|
|
|
|
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
|
|
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
|
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)
|
|
|
|
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
|
|
|
|
NM_000384.3(APOB):c.35del (p.Leu12fs)
|
|
|
|
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
|
|
|
|
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
|
|
|
|
NM_000384.3(APOB):c.39del (p.Leu14fs)
|
|
|
|
NM_000384.3(APOB):c.4265G>A (p.Cys1422Tyr)
|
|
|
|
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_000384.3(APOB):c.4590del (p.Asn1531fs)
|
|
|
|
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)
|
|
|
|
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)
|
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
|
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
|
|
|
|
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
|
|
|
|
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)
|
rs541497967
|
|
|
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
|
|
|
|
NM_000384.3(APOB):c.6937= (p.Ile2313=)
|
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
|
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
|
|
|
|
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
|
|
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
|
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
|
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
|
|
|
|
NM_000527.4(LDLR):c.-140C>A
|
|
|
|
NM_000527.4(LDLR):c.-187-?_940+?dup
|
|
|
|
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.191-?_940+?del
|
|
|
|
NM_000527.4(LDLR):c.2141-?_2389+?del
|
|
|
|
NM_000527.4(LDLR):c.2312-?_*2514del
|
|
|
|
NM_000527.4(LDLR):c.2312-?_2389+?del
|
|
|
|
NM_000527.4(LDLR):c.2312-?_2547+?del
|
|
|
|
NM_000527.4(LDLR):c.2390-?_2547+?del
|
|
|
|
NM_000527.4(LDLR):c.313+1G>A
|
|
|
|
NM_000527.4(LDLR):c.695-?_817+?del
|
|
|
|
NM_000527.4(LDLR):c.941-?_1586+?del
|
|
|
|
NM_000527.5(LDLR):c.1009_1014del (p.Glu337_Cys338del)
|
|
|
|
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
|
|
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
|
NM_000527.5(LDLR):c.1033C>T (p.Gln345Ter)
|
|
|
|
NM_000527.5(LDLR):c.1036C>G (p.Leu346Val)
|
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
|
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
|
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
|
|
|
NM_000527.5(LDLR):c.1060+7=
|
|
|
|
NM_000527.5(LDLR):c.1061-8T>C
|
|
|
|
NM_000527.5(LDLR):c.1069G>C (p.Glu357Gln)
|
|
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
|
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
|
|
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
|
NM_000527.5(LDLR):c.1158_1162dup (p.His388fs)
|
|
|
|
NM_000527.5(LDLR):c.1162dup (p.His388fs)
|
|
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
|
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
|
|
|
|
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
|
|
|
|
NM_000527.5(LDLR):c.1187-10G>A
|
|
|
|
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
|
|
|
|
NM_000527.5(LDLR):c.1210A>T (p.Thr404Ser)
|
|
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
|
NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp)
|
|
|
|
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
|
|
|
|
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
|
|
|
|
NM_000527.5(LDLR):c.1269C>G (p.Ile423Met)
|
|
|
|
NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)
|
|
|
|
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
|
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
|
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
|
|
|
|
NM_000527.5(LDLR):c.1358+10G>A
|
|
|
|
NM_000527.5(LDLR):c.1358+32C>T
|
|
|
|
NM_000527.5(LDLR):c.1359-30C>T
|
|
|
|
NM_000527.5(LDLR):c.1359-6C>T
|
|
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
|
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
|
|
|
|
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
|
|
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
|
NM_000527.5(LDLR):c.1474del (p.Asp492fs)
|
|
|
|
NM_000527.5(LDLR):c.1489A>C (p.Thr497Pro)
|
|
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
|
NM_000527.5(LDLR):c.1565T>G (p.Ile522Ser)
|
|
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
|
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
|
|
|
|
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
|
|
|
|
NM_000527.5(LDLR):c.1571T>G (p.Val524Gly)
|
|
|
|
NM_000527.5(LDLR):c.1573_1586+5del
|
|
|
|
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
|
|
|
|
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
|
|
|
|
NM_000527.5(LDLR):c.1586+12C>T
|
|
|
|
NM_000527.5(LDLR):c.1586+16G>A
|
|
|
|
NM_000527.5(LDLR):c.1586+1G>A
|
|
|
|
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
|
|
|
|
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
|
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
|
NM_000527.5(LDLR):c.1673_1676del (p.Glu558fs)
|
|
|
|
NM_000527.5(LDLR):c.1706-10G>A
|
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
|
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
|
|
|
|
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
|
|
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
|
NM_000527.5(LDLR):c.1804G>T (p.Glu602Ter)
|
|
|
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
|
|
|
NM_000527.5(LDLR):c.1845+1G>C
|
|
|
|
NM_000527.5(LDLR):c.1845+1del
|
|
|
|
NM_000527.5(LDLR):c.1845+2T>C
|
|
|
|
NM_000527.5(LDLR):c.1859G>A (p.Trp620Ter)
|
|
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
|
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
|
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
|
NM_000527.5(LDLR):c.1885_1886insA (p.Phe629fs)
|
|
|
|
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
|
|
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
|
NM_000527.5(LDLR):c.1997G>A (p.Trp666Ter)
|
|
|
|
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
|
|
|
|
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
|
|
|
|
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
|
|
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
|
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
|
|
|
|
NM_000527.5(LDLR):c.2068dup (p.His690fs)
|
|
|
|
NM_000527.5(LDLR):c.2088C>G (p.Cys696Trp)
|
|
|
|
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
|
|
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
|
NM_000527.5(LDLR):c.2133C>G (p.Cys711Trp)
|
|
|
|
NM_000527.5(LDLR):c.2140+30G>A
|
|
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
|
NM_000527.5(LDLR):c.2141-2A>G
|
|
|
|
NM_000527.5(LDLR):c.2149G>A (p.Ala717Thr)
|
|
|
|
NM_000527.5(LDLR):c.2164C>T (p.Gln722Ter)
|
|
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
|
NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser)
|
|
|
|
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
|
|
|
|
NM_000527.5(LDLR):c.2249C>T (p.Ser750Phe)
|
|
|
|
NM_000527.5(LDLR):c.2311+1G>T
|
|
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
|
|
|
NM_000527.5(LDLR):c.2312-3C>A
|
|
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
|
|
|
NM_000527.5(LDLR):c.2333_2334insC (p.Arg778fs)
|
|
|
|
NM_000527.5(LDLR):c.2368_2369dup (p.Ser791fs)
|
|
|
|
NM_000527.5(LDLR):c.2376del (p.Ile792fs)
|
|
|
|
NM_000527.5(LDLR):c.2389+14G>A
|
|
|
|
NM_000527.5(LDLR):c.2389+41C>A
|
|
|
|
NM_000527.5(LDLR):c.2389+46C>T
|
|
|
|
NM_000527.5(LDLR):c.2389+47G>A
|
|
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
|
|
|
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
|
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
|
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
|
|
|
|
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
|
|
|
|
NM_000527.5(LDLR):c.2431A>T (p.Lys811Ter)
|
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
|
NM_000527.5(LDLR):c.245G>C (p.Cys82Ser)
|
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
|
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
|
|
|
|
NM_000527.5(LDLR):c.2509del (p.His837fs)
|
|
|
|
NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)
|
|
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
|
NM_000527.5(LDLR):c.2548-23C>T
|
|
|
|
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
|
|
|
|
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
|
|
|
|
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
|
|
|
|
NM_000527.5(LDLR):c.313+5G>A
|
|
|
|
NM_000527.5(LDLR):c.320_332del (p.Lys107fs)
|
|
|
|
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
|
|
|
|
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
|
|
|
|
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
|
|
|
|
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
|
|
|
|
NM_000527.5(LDLR):c.479_480delinsTT (p.Cys160Phe)
|
rs1135402767
|
|
|
NM_000527.5(LDLR):c.487C>T (p.Gln163Ter)
|
|
|
|
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
|
|
|
|
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
|
|
|
|
NM_000527.5(LDLR):c.503A>C (p.Asp168Ala)
|
|
|
|
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
|
|
|
|
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
|
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
|
NM_000527.5(LDLR):c.571C>T (p.Gln191Ter)
|
|
|
|
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
|
|
|
|
NM_000527.5(LDLR):c.67+1G>A
|
|
|
|
NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup)
|
|
|
|
NM_000527.5(LDLR):c.68-2A>G
|
|
|
|
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
|
|
|
|
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
|
|
|
|
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
|
|
|
|
NM_000527.5(LDLR):c.694+25C>T
|
|
|
|
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
|
NM_000527.5(LDLR):c.818-2A>G
|
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
|
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
|
|
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
|
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
|
|
|
|
NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)
|
|
|
|
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
|
|
|
|
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
|
|
|
|
NM_000527.5(LDLR):c.935_936del (p.Glu312fs)
|
|
|
|
NM_000527.5(LDLR):c.940+9C>T
|
|
|
|
NM_000527.5(LDLR):c.941-39C>T
|
|
|
|
NM_000527.5(LDLR):c.941-4G>A
|
|
|
|
NM_000527.5(LDLR):c.949dup (p.Glu317fs)
|
|
|
|
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
|
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
|
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
|
|
|
|
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
|
|
|
|
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
|
|
|
|
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
|
|
|
|
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
|
|
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
|
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
|
|
|
|
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
|
|
|
|
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
|
|
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
|
|
|
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
|
|
|
|
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
|
|
|
|
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
|
|
|
|
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
|
|
|
|
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
|
|
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
|
|
|
NM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs)
|
|
|
|
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
|
|
|
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
|
|
|
c.(1060+1_1061-1)_(1186+1_1187-1)del
|
|
|
|
c.(1586+1_1587-1)_(1845+1_1846-1)dup
|
|
|
|
c.(1845+1_1846-1)_(*2514_?)del
|
|
|
|
c.(190+1_191-1)_(694+1_695-1)dup
|
|
|
|
c.(2311+1_2312-1)_(2547+1_2548-1)dup
|
|
|
|
c.(313+1_314-1)_(1186+1_1187-1)dup
|
|
|
|
c.(940+1_941-1)_(2140+1_2141-1)del
|
|
|
|
c.(?_-187)_(190+1_191-1)del
|
|
|
|
c.(?_-187)_*2584del
|
|
|