NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)
|
rs63750082
|
0.00012
|
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)
|
rs121917809
|
0.00008
|
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)
|
rs63749824
|
0.00004
|
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)
|
rs63750900
|
0.00001
|
NC_000014.8:g.(?_73673074)_(73673200_?)del
|
|
|
NM_000021.4(PSEN1):c.1129A>T (p.Arg377Trp)
|
rs1555357544
|
|
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu)
|
rs63750323
|
|
NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val)
|
rs63750687
|
|
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)
|
rs63750687
|
|
NM_000021.4(PSEN1):c.1151G>C (p.Gly384Ala)
|
rs63750646
|
|
NM_000021.4(PSEN1):c.1174C>G (p.Leu392Val)
|
rs63751416
|
|
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)
|
rs63750218
|
|
NM_000021.4(PSEN1):c.1181G>T (p.Gly394Val)
|
rs63750929
|
|
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)
|
rs661
|
|
NM_000021.4(PSEN1):c.1247T>C (p.Ile416Thr)
|
rs2140145565
|
|
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
|
rs63751316
|
|
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)
|
rs63751223
|
|
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)
|
rs63750083
|
|
NM_000021.4(PSEN1):c.1300_1301delinsTG (p.Ala434Cys)
|
rs281875357
|
|
NM_000021.4(PSEN1):c.1307C>A (p.Pro436Gln)
|
rs121917808
|
|
NM_000021.4(PSEN1):c.1318_1320del (p.Thr440del)
|
rs63750470
|
|
NM_000021.4(PSEN1):c.250A>G (p.Met84Val)
|
|
|
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro)
|
rs63750599
|
|
NM_000021.4(PSEN1):c.263C>G (p.Pro88Arg)
|
rs1897874329
|
|
NM_000021.4(PSEN1):c.263C>T (p.Pro88Leu)
|
rs1897874329
|
|
NM_000021.4(PSEN1):c.274T>A (p.Cys92Ser)
|
|
|
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser)
|
rs63751141
|
|
NM_000021.4(PSEN1):c.300dup (p.Lys101Ter)
|
rs2140037322
|
|
NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys)
|
rs1057518919
|
|
NM_000021.4(PSEN1):c.338+1del
|
rs63751475
|
|
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)
|
rs63751399
|
|
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)
|
rs63750450
|
|
NM_000021.4(PSEN1):c.347C>A (p.Thr116Asn)
|
rs63750730
|
|
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile)
|
rs63750730
|
|
NM_000021.4(PSEN1):c.349C>T (p.Pro117Ser)
|
rs63750550
|
|
NM_000021.4(PSEN1):c.360A>T (p.Glu120Asp)
|
rs63751272
|
|
NM_000021.4(PSEN1):c.404A>G (p.Asn135Ser)
|
rs63751278
|
|
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)
|
rs63751037
|
|
NM_000021.4(PSEN1):c.416T>C (p.Met139Thr)
|
rs63751106
|
|
NM_000021.4(PSEN1):c.424G>A (p.Val142Ile)
|
rs1566630910
|
|
NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)
|
rs63750004
|
|
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)
|
rs63750306
|
|
NM_000021.4(PSEN1):c.436A>G (p.Met146Val)
|
rs63750306
|
|
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu)
|
rs63750306
|
|
NM_000021.4(PSEN1):c.438G>A (p.Met146Ile)
|
rs63750391
|
|
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile)
|
rs63750391
|
|
NM_000021.4(PSEN1):c.466_467insTTATAT (p.Lys155_Tyr156insPheIle)
|
rs63750631
|
|
NM_000021.4(PSEN1):c.476A>T (p.Tyr159Phe)
|
|
|
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr)
|
rs63749885
|
|
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)
|
rs63750590
|
|
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro)
|
rs63750265
|
|
NM_000021.4(PSEN1):c.506C>T (p.Ser169Leu)
|
rs63751210
|
|
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe)
|
rs63750577
|
|
NM_000021.4(PSEN1):c.512T>C (p.Leu171Pro)
|
rs63750963
|
|
NM_000021.4(PSEN1):c.520C>A (p.Leu174Met)
|
rs63751144
|
|
NM_000021.4(PSEN1):c.520_522del (p.Leu174del)
|
rs2140080563
|
|
NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)
|
rs63749806
|
|
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)
|
rs63751068
|
|
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly)
|
rs1566641934
|
|
NM_000021.4(PSEN1):c.552A>C (p.Glu184Asp)
|
rs63750311
|
|
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)
|
rs63750082
|
|
NM_000021.4(PSEN1):c.617G>T (p.Gly206Val)
|
rs63750082
|
|
NM_000021.4(PSEN1):c.625G>C (p.Gly209Arg)
|
rs63749880
|
|
NM_000021.4(PSEN1):c.626G>T (p.Gly209Val)
|
rs63750053
|
|
NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr)
|
rs1555355250
|
|
NM_000021.4(PSEN1):c.640C>A (p.His214Asn)
|
rs63751003
|
|
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)
|
rs267606983
|
|
NM_000021.4(PSEN1):c.656T>C (p.Leu219Pro)
|
rs63750761
|
|
NM_000021.4(PSEN1):c.697A>C (p.Met233Leu)
|
|
|
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)
|
rs63751287
|
|
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr)
|
rs63751024
|
|
NM_000021.4(PSEN1):c.725del (p.Pro242fs)
|
rs1595035030
|
|
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)
|
rs63750526
|
|
NM_000021.4(PSEN1):c.745A>C (p.Ile249Leu)
|
rs1362575880
|
|
NM_000021.4(PSEN1):c.749T>C (p.Leu250Ser)
|
rs63751163
|
|
NM_000021.4(PSEN1):c.750G>T (p.Leu250Phe)
|
rs1898781850
|
|
NM_000021.4(PSEN1):c.766T>A (p.Tyr256Asn)
|
|
|
NM_000021.4(PSEN1):c.779C>T (p.Ala260Val)
|
rs63751420
|
|
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)
|
rs63750248
|
|
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)
|
rs63750301
|
|
NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser)
|
rs121917807
|
|
NM_000021.4(PSEN1):c.799C>A (p.Pro267Thr)
|
rs63751229
|
|
NM_000021.4(PSEN1):c.799C>G (p.Pro267Ala)
|
rs63751229
|
|
NM_000021.4(PSEN1):c.799C>T (p.Pro267Ser)
|
rs63751229
|
|
NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)
|
rs63750886
|
|
NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr)
|
rs63749891
|
|
NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile)
|
rs63749891
|
|
NM_000021.4(PSEN1):c.838G>A (p.Glu280Lys)
|
rs2140105309
|
|
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)
|
rs63750231
|
|
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)
|
rs63750231
|
|
NM_000021.4(PSEN1):c.845T>C (p.Leu282Pro)
|
|
|
NM_000021.4(PSEN1):c.854C>T (p.Ala285Val)
|
rs63751139
|
|
NM_000021.4(PSEN1):c.856C>G (p.Leu286Val)
|
rs63751235
|
|
NM_000021.4(PSEN1):c.869-1624_956-2452del
|
|
|
NM_000021.4(PSEN1):c.869-1G>A
|
rs63750219
|
|
NM_000021.4(PSEN1):c.869-1G>T
|
rs63750219
|
|
NM_000021.4(PSEN1):c.869-2A>G
|
|
|
NM_000021.4(PSEN1):c.869-2A>T
|
rs1566650594
|
|