NCBI36/hg18 6p21.32(chr6:33451137-33543925)x1
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NC_000006.11:g.(?_33393555)_(33393700_?)dup
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NM_006772.2(SYNGAP1):c.1532_1534del
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rs1760930568
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NM_006772.3(SYNGAP1):c.102C>A (p.Tyr34Ter)
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rs147913000
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NM_006772.3(SYNGAP1):c.1030G>A (p.Gly344Ser)
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rs1760893537
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NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)
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rs1060503378
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NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg)
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rs1554121265
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NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer)
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rs1760904978
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NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter)
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rs2151170014
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NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser)
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rs1760905358
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NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter)
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rs1561785045
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NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro)
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rs1581987885
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NM_006772.3(SYNGAP1):c.1312del (p.Ala438fs)
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rs2151170227
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NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro)
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NM_006772.3(SYNGAP1):c.1386+1G>A
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NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg)
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rs2151171287
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NM_006772.3(SYNGAP1):c.1513T>C (p.Tyr505His)
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NM_006772.3(SYNGAP1):c.1513T>G (p.Tyr505Asp)
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NM_006772.3(SYNGAP1):c.1517T>C (p.Leu506Pro)
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rs1760918521
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NM_006772.3(SYNGAP1):c.1529T>G (p.Ile510Ser)
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rs1554121364
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NM_006772.3(SYNGAP1):c.1531+1del
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rs2151171434
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NM_006772.3(SYNGAP1):c.1531G>A (p.Gly511Arg)
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NM_006772.3(SYNGAP1):c.1532-1G>A
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rs1760930644
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NM_006772.3(SYNGAP1):c.1532-1G>C
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rs1760930644
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NM_006772.3(SYNGAP1):c.1556A>C (p.Glu519Ala)
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rs1760931697
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NM_006772.3(SYNGAP1):c.1583delinsTG (p.Pro528fs)
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rs2151172438
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NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro)
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rs1480178032
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NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer)
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rs2151172644
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NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro)
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rs1554121453
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NM_006772.3(SYNGAP1):c.1676+1G>A
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rs2151172748
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NM_006772.3(SYNGAP1):c.1676+5G>T
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rs1760935231
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NM_006772.3(SYNGAP1):c.1677-2A>G
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rs2151180361
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NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
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rs397514670
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NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs)
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rs1554121671
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NM_006772.3(SYNGAP1):c.1706T>C (p.Phe569Ser)
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NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
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rs1064795331
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NM_006772.3(SYNGAP1):c.1718G>A (p.Arg573Gln)
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rs1554121685
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NM_006772.3(SYNGAP1):c.1718G>T (p.Arg573Leu)
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rs1554121685
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NM_006772.3(SYNGAP1):c.1763T>A (p.Leu588His)
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rs1064795645
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NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu)
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rs1761012352
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NM_006772.3(SYNGAP1):c.189+1G>A
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NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
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rs1761021165
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NM_006772.3(SYNGAP1):c.1913+1G>A
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rs2151181124
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NM_006772.3(SYNGAP1):c.1913+2_1913+5del
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rs2151181120
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NM_006772.3(SYNGAP1):c.1914-1G>A
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NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr)
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rs1485749468
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NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)
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rs1060503383
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NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro)
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rs1581992998
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NM_006772.3(SYNGAP1):c.2087T>C (p.Leu696Pro)
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rs2151182679
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NM_006772.3(SYNGAP1):c.2104_2115+14del
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rs1064792984
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NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)
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rs1057518786
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NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn)
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rs1057518786
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NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
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NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs)
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rs1761049027
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NM_006772.3(SYNGAP1):c.2294+1G>A
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rs1554121970
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NM_006772.3(SYNGAP1):c.2294+1G>C
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NM_006772.3(SYNGAP1):c.2337-1G>A
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NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs)
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rs1761087122
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NM_006772.3(SYNGAP1):c.2446del (p.Ser816fs)
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NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr)
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rs1561788965
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NM_006772.3(SYNGAP1):c.2525_2528dup (p.Met843fs)
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rs1761093830
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NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs)
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rs1761096151
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NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)
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rs1554122249
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NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg)
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rs1761103512
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NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs)
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rs1554122276
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NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs)
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NM_006772.3(SYNGAP1):c.3025G>T (p.Glu1009Ter)
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NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter)
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rs1554122296
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NM_006772.3(SYNGAP1):c.3125_3138del (p.Gln1042fs)
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NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys)
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rs1761113561
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NM_006772.3(SYNGAP1):c.3196C>T (p.Pro1066Ser)
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rs2151190466
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NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)
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rs1057518796
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NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr)
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rs1200128322
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NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs)
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rs1581997098
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NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter)
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rs1554122400
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NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter)
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rs1554122455
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NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu)
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rs875989808
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NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs)
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rs1554304254
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NM_006772.3(SYNGAP1):c.3508_3509del (p.Ser1170fs)
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rs1581998105
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NM_006772.3(SYNGAP1):c.3534C>A (p.Tyr1178Ter)
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rs2151193128
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NM_006772.3(SYNGAP1):c.3583-6G>A
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rs869312674
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NM_006772.3(SYNGAP1):c.3594C>G (p.Tyr1198Ter)
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rs1007979214
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NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)
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rs1761209473
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NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs)
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rs2151199493
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NM_006772.3(SYNGAP1):c.3711T>A (p.Tyr1237Ter)
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NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs)
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rs1554122735
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NM_006772.3(SYNGAP1):c.3794+2T>C
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rs1395368098
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NM_006772.3(SYNGAP1):c.3794G>C (p.Arg1265Thr)
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rs1554122763
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NM_006772.3(SYNGAP1):c.3795-1G>C
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rs1761241410
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NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=)
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rs767126748
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NM_006772.3(SYNGAP1):c.388-3C>G
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rs1448169616
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NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
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rs1131692154
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NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn)
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rs998489108
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NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys)
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rs1554120589
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NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
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rs1057518352
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NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)
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rs1057519546
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NM_006772.3(SYNGAP1):c.535del (p.Glu179fs)
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rs786205649
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NM_006772.3(SYNGAP1):c.583G>C (p.Ala195Pro)
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rs1057519545
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NM_006772.3(SYNGAP1):c.629_632dup (p.Ser211fs)
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NM_006772.3(SYNGAP1):c.662A>T (p.Glu221Val)
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NM_006772.3(SYNGAP1):c.663+1G>A
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rs1064797322
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NM_006772.3(SYNGAP1):c.663+1G>T
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rs1064797322
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NM_006772.3(SYNGAP1):c.68-1G>A
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rs1562869207
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NM_006772.3(SYNGAP1):c.680dup (p.Thr228fs)
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NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro)
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rs2151161955
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NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter)
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rs1554120974
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NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter)
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rs1554120978
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NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro)
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rs1400108198
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NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
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NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)
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rs1581987022
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NM_006772.3(SYNGAP1):c.847del (p.Glu283fs)
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rs2151168593
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NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His)
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rs2151168637
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NM_006772.3(SYNGAP1):c.859G>T (p.Asp287Tyr)
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NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro)
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rs1561784553
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NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)
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NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)
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rs1554121202
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NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
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rs1554121206
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NM_006772.3(SYNGAP1):c.930G>C (p.Glu310Asp)
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rs1760890843
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NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg)
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rs1760891950
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