NM_005097.4(LGI1):c.406C>T (p.Arg136Trp)
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rs119488099
|
0.00001
|
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter)
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rs1027289865
|
0.00001
|
NC_000007.13:g.(?_102937907)_(103629803_?)del
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NC_000007.13:g.(?_103389853)_(103474139_?)del
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NC_000010.10:g.(?_95517882)_(95537394_?)del
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NC_000010.10:g.(?_95517902)_(95518136_?)del
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NC_000010.11:g.(93704377_?)_(?_93785620)del
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NC_000010.11:g.(?_93161309)_(93797823_?)del
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NM_005045.4(RELN):c.1475del (p.Asn492fs)
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NM_005045.4(RELN):c.2075del (p.Asp692fs)
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NM_005045.4(RELN):c.2086dup (p.Ser696fs)
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rs1832583187
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NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)
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rs794727998
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NM_005045.4(RELN):c.2364del (p.Asp789fs)
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rs2117348851
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NM_005045.4(RELN):c.2392C>A (p.His798Asn)
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rs794727996
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NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
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NM_005045.4(RELN):c.3215del (p.Asp1072fs)
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rs1831725857
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NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
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NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter)
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rs2117255208
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NM_005045.4(RELN):c.3485dup (p.Ile1163fs)
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rs1831540545
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NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
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NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
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NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter)
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rs2117248586
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NM_005045.4(RELN):c.4190del (p.Asn1397fs)
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rs2117208388
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NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs)
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rs2117205170
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NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter)
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rs2117204949
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NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter)
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rs2117189408
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NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
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NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs)
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rs2117188195
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NM_005045.4(RELN):c.5115del (p.Ile1706fs)
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NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
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NM_005045.4(RELN):c.5455del (p.Glu1819fs)
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NM_005045.4(RELN):c.5489del (p.Gly1830fs)
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NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs)
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rs1830401647
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NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
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NM_005045.4(RELN):c.6474del (p.Cys2159fs)
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rs2117139699
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NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
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NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
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NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
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NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
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NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys)
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rs587780438
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NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
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NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter)
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rs1829533362
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NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys)
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rs794727997
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NM_005045.4(RELN):c.8433del (p.Pro2812fs)
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NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
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NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter)
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rs2117021067
|
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NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
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NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys)
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rs794727999
|
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NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter)
|
rs751409835
|
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NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser)
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rs869025201
|
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NM_005097.4(LGI1):c.108del (p.Lys36fs)
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rs2133975489
|
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NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter)
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NM_005097.4(LGI1):c.1118T>A (p.Leu373Ter)
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rs2134026513
|
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NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter)
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rs1060502053
|
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NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala)
|
rs28937874
|
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NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer)
|
rs1554907767
|
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NM_005097.4(LGI1):c.1252C>T (p.Gln418Ter)
|
rs2134026684
|
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NM_005097.4(LGI1):c.1256T>G (p.Leu419Ter)
|
rs1554907787
|
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NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)
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rs104894166
|
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NM_005097.4(LGI1):c.1396C>T (p.Gln466Ter)
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|
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NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter)
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rs797044998
|
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NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs)
|
rs1554907835
|
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NM_005097.4(LGI1):c.1442del (p.Pro481fs)
|
rs2134026964
|
|
NM_005097.4(LGI1):c.1465del (p.Tyr489fs)
|
rs1589776148
|
|
NM_005097.4(LGI1):c.1580_1581del (p.His527fs)
|
rs1364913665
|
|
NM_005097.4(LGI1):c.1599dup (p.Asn534Ter)
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rs2134027169
|
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NM_005097.4(LGI1):c.360-3C>A
|
rs1589762127
|
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NM_005097.4(LGI1):c.365T>A (p.Ile122Lys)
|
rs119488100
|
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NM_005097.4(LGI1):c.386C>G (p.Ser129Ter)
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rs1564845068
|
|
NM_005097.4(LGI1):c.416del (p.Lys139fs)
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|
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NM_005097.4(LGI1):c.431+1G>A
|
rs2134001459
|
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NM_005097.4(LGI1):c.443dup (p.Asn148fs)
|
rs2134017940
|
|
NM_005097.4(LGI1):c.446_449del (p.Asn149fs)
|
rs2134017952
|
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NM_005097.4(LGI1):c.598del (p.Cys200fs)
|
|
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NM_005097.4(LGI1):c.600C>A (p.Cys200Ter)
|
|
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NM_005097.4(LGI1):c.611del (p.Pro204fs)
|
|
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NM_005097.4(LGI1):c.688C>T (p.Gln230Ter)
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rs1060502054
|
|
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro)
|
rs104894167
|
|
NM_005097.4(LGI1):c.795G>A (p.Trp265Ter)
|
rs2134021516
|
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NM_005097.4(LGI1):c.953T>G (p.Phe318Cys)
|
rs28939075
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
NM_015973.5(GAL):c.116C>A (p.Ala39Glu)
|
rs1057517661
|
|
NM_022765.4(MICAL1):c.-43-1G>A
|
rs2115340270
|
|