NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
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rs45550635
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0.00271
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NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
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rs143978652
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0.00110
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NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
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rs397516608
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0.00010
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NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)
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rs199473157
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0.00001
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FH Bologna 2
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NM_000256.3(MYBPC3):c.2905+1G>A
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rs397515991
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NM_000258.3(MYL3):c.466G>T (p.Val156Leu)
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rs199474707
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NM_000335.5(SCN5A):c.3664G>C (p.Ala1222Pro)
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rs863225118
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NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn)
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rs730881091
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NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
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NM_000384.3(APOB):c.10583C>T (p.Ser3528Phe)
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NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
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NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
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NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
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NM_000384.3(APOB):c.1166A>G (p.Gln389Arg)
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NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
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NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
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NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
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NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
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NM_000384.3(APOB):c.12824A>C (p.Asp4275Ala)
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NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
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NM_000384.3(APOB):c.1310G>A (p.Arg437His)
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NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
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NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
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NM_000384.3(APOB):c.13555A>G (p.Arg4519Gly)
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NM_000384.3(APOB):c.154T>C (p.Tyr52His)
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NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
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NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
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NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
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NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
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NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
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NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
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NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
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NM_000384.3(APOB):c.307T>C (p.Tyr103His)
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NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
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NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)
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NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
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NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
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NM_000384.3(APOB):c.4265G>A (p.Cys1422Tyr)
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NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
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NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)
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NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
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NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)
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rs541497967
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NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
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NM_000384.3(APOB):c.6937= (p.Ile2313=)
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NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
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NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
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NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
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NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
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NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
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NM_000527.4(LDLR):c.-140C>A
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NM_000527.4(LDLR):c.-187-?_940+?dup
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NM_000527.4(LDLR):c.-228G>C
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NM_000527.4(LDLR):c.-88G>A
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NM_000527.5(LDLR):c.1009_1014del (p.Glu337_Cys338del)
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NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
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NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
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NM_000527.5(LDLR):c.1036C>G (p.Leu346Val)
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NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
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NM_000527.5(LDLR):c.1060+10G>A
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NM_000527.5(LDLR):c.1060+7=
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NM_000527.5(LDLR):c.1069G>C (p.Glu357Gln)
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NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
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NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
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NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
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NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
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NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp)
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NM_000527.5(LDLR):c.1358+10G>A
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NM_000527.5(LDLR):c.1359-6C>T
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NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
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NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
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NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
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NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
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NM_000527.5(LDLR):c.1565T>G (p.Ile522Ser)
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NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
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NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
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NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
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NM_000527.5(LDLR):c.1586+12C>T
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NM_000527.5(LDLR):c.1586+16G>A
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NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
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NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
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NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
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NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
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NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
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NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
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NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
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NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
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NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
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NM_000527.5(LDLR):c.2133C>G (p.Cys711Trp)
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NM_000527.5(LDLR):c.2140+30G>A
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NM_000527.5(LDLR):c.2149G>A (p.Ala717Thr)
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NM_000527.5(LDLR):c.2184G>C (p.Arg728Ser)
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NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
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NM_000527.5(LDLR):c.2249C>T (p.Ser750Phe)
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NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
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NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
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NM_000527.5(LDLR):c.2389+14G>A
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NM_000527.5(LDLR):c.2389+41C>A
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NM_000527.5(LDLR):c.2389+7G>A
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NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
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NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
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NM_000527.5(LDLR):c.245G>C (p.Cys82Ser)
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NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
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rs137853964
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NM_000527.5(LDLR):c.2548-19G>A
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NM_000527.5(LDLR):c.2548-23C>T
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NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
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NM_000527.5(LDLR):c.313+5G>A
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NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
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NM_000527.5(LDLR):c.694+25C>T
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NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
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NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
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NM_000527.5(LDLR):c.817+9T>C
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NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
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NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
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NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
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NM_000527.5(LDLR):c.940+9C>T
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NM_000527.5(LDLR):c.941-39C>T
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NM_000527.5(LDLR):c.941-4G>A
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NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
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NM_001103.4(ACTN2):c.1226A>G (p.Lys409Arg)
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rs863225115
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NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys)
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rs863225116
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NM_033118.4(MYLK2):c.281C>G (p.Pro94Arg)
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rs201134349
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NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
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NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
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NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
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NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
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NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
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NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
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NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
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NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
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NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
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NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
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NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
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NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser)
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rs386707192
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c.(1586+1_1587-1)_(1845+1_1846-1)dup
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c.(190+1_191-1)_(694+1_695-1)dup
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c.(313+1_314-1)_(1186+1_1187-1)dup
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