Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 33162 single nucleotide variant NM_000021.3(PSEN1):c.436A>C (p.Met146Leu) 63750306 MedGen:C1843013,OMIM:607822 14 73640371 73640371 A C 33162 single nucleotide variant NM_000021.3(PSEN1):c.436A>C (p.Met146Leu) 63750306 MedGen:C1843013,OMIM:607822 14 73173663 73173663 A C 33163 single nucleotide variant NM_000021.3(PSEN1):c.488A>G (p.His163Arg) 63750590 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73653568 73653568 A G 33163 single nucleotide variant NM_000021.3(PSEN1):c.488A>G (p.His163Arg) 63750590 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73186860 73186860 A G 33164 single nucleotide variant NM_000021.3(PSEN1):c.737C>A (p.Ala246Glu) 63750526 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73659540 73659540 C A 33164 single nucleotide variant NM_000021.3(PSEN1):c.737C>A (p.Ala246Glu) 63750526 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73192832 73192832 C A 33165 single nucleotide variant NM_000021.3(PSEN1):c.856C>G (p.Leu286Val) 63751235 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73664825 73664825 C G 33165 single nucleotide variant NM_000021.3(PSEN1):c.856C>G (p.Leu286Val) 63751235 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73198117 73198117 C G 33166 single nucleotide variant NM_000021.3(PSEN1):c.1229G>A (p.Cys410Tyr) 661 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73683933 73683933 G A 33166 single nucleotide variant NM_000021.3(PSEN1):c.1229G>A (p.Cys410Tyr) 661 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73217225 73217225 G A 33167 single nucleotide variant NM_000021.3(PSEN1):c.415A>G (p.Met139Val) 63751037 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73640350 73640350 A G 33167 single nucleotide variant NM_000021.3(PSEN1):c.415A>G (p.Met139Val) 63751037 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73173642 73173642 A G 33168 single nucleotide variant NM_000021.3(PSEN1):c.436A>G (p.Met146Val) 63750306 MedGen:C1843013,OMIM:607822 14 73640371 73640371 A G 33168 single nucleotide variant NM_000021.3(PSEN1):c.436A>G (p.Met146Val) 63750306 MedGen:C1843013,OMIM:607822 14 73173663 73173663 A G 33169 single nucleotide variant NM_000021.3(PSEN1):c.487C>T (p.His163Tyr) 63749885 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73653567 73653567 C T 33169 single nucleotide variant NM_000021.3(PSEN1):c.487C>T (p.His163Tyr) 63749885 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73186859 73186859 C T 33170 single nucleotide variant NM_000021.3(PSEN1):c.839A>C (p.Glu280Ala) 63750231 MedGen:C1843013,OMIM:607822 14 73664808 73664808 A C 33170 single nucleotide variant NM_000021.3(PSEN1):c.839A>C (p.Glu280Ala) 63750231 MedGen:C1843013,OMIM:607822 14 73198100 73198100 A C 33171 single nucleotide variant NM_000021.3(PSEN1):c.839A>G (p.Glu280Gly) 63750231 MedGen:C4015780;MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73664808 73664808 A G 33171 single nucleotide variant NM_000021.3(PSEN1):c.839A>G (p.Glu280Gly) 63750231 MedGen:C4015780;MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73198100 73198100 A G 33172 single nucleotide variant NM_000021.3(PSEN1):c.799C>T (p.Pro267Ser) 63751229 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73664768 73664768 C T 33172 single nucleotide variant NM_000021.3(PSEN1):c.799C>T (p.Pro267Ser) 63751229 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73198060 73198060 C T 33173 deletion PSEN1, IVS8AS, G-T, -1, EX9DEL -1 MedGen:C4015780;MedGen:C1843013,OMIM:607822 na -1 -1 na na 33174 single nucleotide variant NM_000021.3(PSEN1):c.360A>T (p.Glu120Asp) 63751272 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73640295 73640295 A T 33174 single nucleotide variant NM_000021.3(PSEN1):c.360A>T (p.Glu120Asp) 63751272 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73173587 73173587 A T 33175 single nucleotide variant NM_000021.3(PSEN1):c.1276G>C (p.Ala426Pro) 63751223 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73685869 73685869 G C 33175 single nucleotide variant NM_000021.3(PSEN1):c.1276G>C (p.Ala426Pro) 63751223 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73219161 73219161 G C 33176 single nucleotide variant NM_000021.3(PSEN1):c.438G>A (p.Met146Ile) 63750391 MedGen:C1843013,OMIM:607822 14 73640373 73640373 G A 33176 single nucleotide variant NM_000021.3(PSEN1):c.438G>A (p.Met146Ile) 63750391 MedGen:C1843013,OMIM:607822 14 73173665 73173665 G A 33177 single nucleotide variant NM_000021.3(PSEN1):c.749T>C (p.Leu250Ser) 63751163 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73659552 73659552 T C 33177 single nucleotide variant NM_000021.3(PSEN1):c.749T>C (p.Leu250Ser) 63751163 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73192844 73192844 T C 33178 single nucleotide variant NM_000021.3(PSEN1):c.833G>C (p.Arg278Thr) 63749891 MedGen:C4015780 14 73664802 73664802 G C 33178 single nucleotide variant NM_000021.3(PSEN1):c.833G>C (p.Arg278Thr) 63749891 MedGen:C4015780 14 73198094 73198094 G C 33179 deletion PSEN1, IVS4DS, 1-BP DEL, G -1 MedGen:C1843013,OMIM:607822 na -1 -1 na na 33180 indel NM_000021.3(PSEN1):c.1300_1301delGCinsTG (p.Ala434Cys) 281875357 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73685893 73685894 GC TG 33180 indel NM_000021.3(PSEN1):c.1300_1301delGCinsTG (p.Ala434Cys) 281875357 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73219185 73219186 GC TG 33181 single nucleotide variant NM_000021.3(PSEN1):c.275G>C (p.Cys92Ser) 63751141 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73637692 73637692 G C 33181 single nucleotide variant NM_000021.3(PSEN1):c.275G>C (p.Cys92Ser) 63751141 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73170984 73170984 G C 33182 single nucleotide variant NM_000021.3(PSEN1):c.617G>C (p.Gly206Ala) 63750082 MedGen:C1843013,OMIM:607822 14 73659420 73659420 G C 33182 single nucleotide variant NM_000021.3(PSEN1):c.617G>C (p.Gly206Ala) 63750082 MedGen:C1843013,OMIM:607822 14 73192712 73192712 G C 33183 single nucleotide variant NM_000021.3(PSEN1):c.796G>A (p.Gly266Ser) 121917807 MedGen:C1843015 14 73664765 73664765 G A 33183 single nucleotide variant NM_000021.3(PSEN1):c.796G>A (p.Gly266Ser) 121917807 MedGen:C1843015 14 73198057 73198057 G A 33184 single nucleotide variant NM_000021.3(PSEN1):c.338T>C (p.Leu113Pro) 63751399 MedGen:C1843013,OMIM:607822;MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:C0338451;MedGen:CN221809 14 73637755 73637755 T C 33184 single nucleotide variant NM_000021.3(PSEN1):c.338T>C (p.Leu113Pro) 63751399 MedGen:C1843013,OMIM:607822;MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED CT:C0338451;MedGen:CN221809 14 73171047 73171047 T C 33185 single nucleotide variant NM_000021.3(PSEN1):c.497T>C (p.Leu166Pro) 63750265 MedGen:C1843013,OMIM:607822 14 73653577 73653577 T C 33185 single nucleotide variant NM_000021.3(PSEN1):c.497T>C (p.Leu166Pro) 63750265 MedGen:C1843013,OMIM:607822 14 73186869 73186869 T C 33186 single nucleotide variant NM_000021.3(PSEN1):c.520C>A (p.Leu174Met) 63751144 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73653600 73653600 C A 33186 single nucleotide variant NM_000021.3(PSEN1):c.520C>A (p.Leu174Met) 63751144 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73186892 73186892 C A 33187 single nucleotide variant NM_000021.3(PSEN1):c.811C>G (p.Leu271Val) 63750886 MedGen:C4015781;MedGen:CN221809 14 73664780 73664780 C G 33187 single nucleotide variant NM_000021.3(PSEN1):c.811C>G (p.Leu271Val) 63750886 MedGen:C4015781;MedGen:CN221809 14 73198072 73198072 C G 33188 single nucleotide variant NM_000021.3(PSEN1):c.548G>T (p.Gly183Val) 63751068 MedGen:C1843013,OMIM:607822;MedGen:C0236642,OMIM:172700,SNOMED CT:C0236642;MedGen:CN221809 14 73653628 73653628 G T 33188 single nucleotide variant NM_000021.3(PSEN1):c.548G>T (p.Gly183Val) 63751068 MedGen:C1843013,OMIM:607822;MedGen:C0236642,OMIM:172700,SNOMED CT:C0236642;MedGen:CN221809 14 73186920 73186920 G T 33189 single nucleotide variant NM_000021.3(PSEN1):c.1307C>A (p.Pro436Gln) 121917808 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73685900 73685900 C A 33189 single nucleotide variant NM_000021.3(PSEN1):c.1307C>A (p.Pro436Gln) 121917808 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73219192 73219192 C A 33190 insertion PSEN1, 6-BP INS, NT715 -1 MedGen:C1843014 na -1 -1 na na 33191 single nucleotide variant NM_000021.3(PSEN1):c.833G>T (p.Arg278Ile) 63749891 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73664802 73664802 G T 33191 single nucleotide variant NM_000021.3(PSEN1):c.833G>T (p.Arg278Ile) 63749891 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73198094 73198094 G T 33192 single nucleotide variant NM_000021.3(PSEN1):c.254T>C (p.Leu85Pro) 63750599 MedGen:C1843015;MedGen:CN221809 14 73637671 73637671 T C 33192 single nucleotide variant NM_000021.3(PSEN1):c.254T>C (p.Leu85Pro) 63750599 MedGen:C1843015;MedGen:CN221809 14 73170963 73170963 T C 33193 deletion PSEN1, 3-BP DEL -1 MedGen:C1843014 na -1 -1 na na 33194 single nucleotide variant NM_000021.3(PSEN1):c.1292C>A (p.Ala431Glu) 63750083 MedGen:C1843013,OMIM:607822 14 73685885 73685885 C A 33194 single nucleotide variant NM_000021.3(PSEN1):c.1292C>A (p.Ala431Glu) 63750083 MedGen:C1843013,OMIM:607822 14 73219177 73219177 C A 33195 single nucleotide variant NM_000021.3(PSEN1):c.998A>G (p.Asp333Gly) 121917809 MedGen:C3160720,OMIM:613694;MedGen:C0018801;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 14 73678519 73678519 A G 33195 single nucleotide variant NM_000021.3(PSEN1):c.998A>G (p.Asp333Gly) 121917809 MedGen:C3160720,OMIM:613694;MedGen:C0018801;MedGen:C0007193,Orphanet:ORPHA217604,SNOMED CT:C0007193 14 73211811 73211811 A G 33196 single nucleotide variant NM_000021.3(PSEN1):c.236C>T (p.Ala79Val) 63749824 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73637653 73637653 C T 33196 single nucleotide variant NM_000021.3(PSEN1):c.236C>T (p.Ala79Val) 63749824 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73170945 73170945 C T 33197 single nucleotide variant NM_000021.3(PSEN1):c.509C>T (p.Ser170Phe) 63750577 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73653589 73653589 C T 33197 single nucleotide variant NM_000021.3(PSEN1):c.509C>T (p.Ser170Phe) 63750577 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73186881 73186881 C T 33198 single nucleotide variant NM_000021.3(PSEN1):c.649G>C (p.Gly217Arg) 267606983 MedGen:C4015781 14 73659452 73659452 G C 33198 single nucleotide variant NM_000021.3(PSEN1):c.649G>C (p.Gly217Arg) 267606983 MedGen:C4015781 14 73192744 73192744 G C 33878 single nucleotide variant NM_000021.3(PSEN1):c.1175T>C (p.Leu392Pro) 63750218 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73683879 73683879 T C 33878 single nucleotide variant NM_000021.3(PSEN1):c.1175T>C (p.Leu392Pro) 63750218 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73217171 73217171 T C 33879 single nucleotide variant NM_000021.3(PSEN1):c.265G>T (p.Val89Leu) 63750815 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73637682 73637682 G T 33879 single nucleotide variant NM_000021.3(PSEN1):c.265G>T (p.Val89Leu) 63750815 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73170974 73170974 G T 33880 single nucleotide variant NM_000021.3(PSEN1):c.697A>G (p.Met233Val) 63751287 MedGen:C1843013,OMIM:607822 14 73659500 73659500 A G 33880 single nucleotide variant NM_000021.3(PSEN1):c.697A>G (p.Met233Val) 63751287 MedGen:C1843013,OMIM:607822 14 73192792 73192792 A G 33881 single nucleotide variant NM_000021.3(PSEN1):c.767A>C (p.Tyr256Ser) 63751320 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73659570 73659570 A C 33881 single nucleotide variant NM_000021.3(PSEN1):c.767A>C (p.Tyr256Ser) 63751320 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73192862 73192862 A C 38560 deletion PSEN1, 1-BP DEL, 725C -1 MedGen:C3151038,OMIM:613737 na -1 -1 na na 46863 deletion NG_007386.2:g.73292_77847del4556 -1 MedGen:C1847200,OMIM:606889 14 73671470 73676025 na na 46863 deletion NG_007386.2:g.73292_77847del4556 -1 MedGen:C1847200,OMIM:606889 14 73204762 73209317 na na 46864 single nucleotide variant NM_000021.3(PSEN1):c.806G>A (p.Arg269His) 63750900 MedGen:C1847200,OMIM:606889;MedGen:CN221809 14 73664775 73664775 G A 46864 single nucleotide variant NM_000021.3(PSEN1):c.806G>A (p.Arg269His) 63750900 MedGen:C1847200,OMIM:606889;MedGen:CN221809 14 73198067 73198067 G A 103896 single nucleotide variant NM_000021.3(PSEN1):c.104G>A (p.Arg35Gln) 63750592 MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:CN221809 14 73637521 73637521 G A 103896 single nucleotide variant NM_000021.3(PSEN1):c.104G>A (p.Arg35Gln) 63750592 MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:CN221809 14 73170813 73170813 G A 103897 single nucleotide variant NM_000021.3(PSEN1):c.244G>C (p.Val82Leu) 63749967 MedGen:CN221809 14 73637661 73637661 G C 103897 single nucleotide variant NM_000021.3(PSEN1):c.244G>C (p.Val82Leu) 63749967 MedGen:CN221809 14 73170953 73170953 G C 103898 deletion NM_000021.3(PSEN1):c.247_252delATCATG (p.Ile83_Met84del) 63750307 MedGen:CN221809 14 73637664 73637669 ATCATG - 103898 deletion NM_000021.3(PSEN1):c.247_252delATCATG (p.Ile83_Met84del) 63750307 MedGen:CN221809 14 73170956 73170961 ATCATG - 103900 single nucleotide variant NM_000021.3(PSEN1):c.280G>A (p.Val94Met) 63750831 MedGen:CN221809 14 73637697 73637697 G A 103900 single nucleotide variant NM_000021.3(PSEN1):c.280G>A (p.Val94Met) 63750831 MedGen:CN221809 14 73170989 73170989 G A 103901 single nucleotide variant NM_000021.3(PSEN1):c.286G>T (p.Val96Phe) 63750601 MedGen:CN221809 14 73637703 73637703 G T 103901 single nucleotide variant NM_000021.3(PSEN1):c.286G>T (p.Val96Phe) 63750601 MedGen:CN221809 14 73170995 73170995 G T 103902 single nucleotide variant NM_000021.3(PSEN1):c.289G>T (p.Val97Leu) 63750852 MedGen:CN221809 14 73637706 73637706 G T 103902 single nucleotide variant NM_000021.3(PSEN1):c.289G>T (p.Val97Leu) 63750852 MedGen:CN221809 14 73170998 73170998 G T 103903 single nucleotide variant NM_000021.3(PSEN1):c.313T>A (p.Phe105Ile) 63750325 MedGen:CN221809 14 73637730 73637730 T A 103903 single nucleotide variant NM_000021.3(PSEN1):c.313T>A (p.Phe105Ile) 63750325 MedGen:CN221809 14 73171022 73171022 T A 103904 single nucleotide variant NM_000021.3(PSEN1):c.315T>G (p.Phe105Leu) 63750321 MedGen:CN221809 14 73637732 73637732 T G 103904 single nucleotide variant NM_000021.3(PSEN1):c.315T>G (p.Phe105Leu) 63750321 MedGen:CN221809 14 73171024 73171024 T G 103905 deletion NM_000021.3(PSEN1):c.338+1delG 63751475 MedGen:CN221809 14 73637756 73637756 G - 103905 deletion NM_000021.3(PSEN1):c.338+1delG 63751475 MedGen:CN221809 14 73171048 73171048 G - 103906 single nucleotide variant NM_000021.3(PSEN1):c.343T>G (p.Tyr115Asp) 63749962 MedGen:CN221809 14 73640278 73640278 T G 103906 single nucleotide variant NM_000021.3(PSEN1):c.343T>G (p.Tyr115Asp) 63749962 MedGen:CN221809 14 73173570 73173570 T G 103907 single nucleotide variant NM_000021.3(PSEN1):c.344A>G (p.Tyr115Cys) 63750450 MedGen:CN221809 14 73640279 73640279 A G 103907 single nucleotide variant NM_000021.3(PSEN1):c.344A>G (p.Tyr115Cys) 63750450 MedGen:CN221809 14 73173571 73173571 A G 103908 single nucleotide variant NM_000021.3(PSEN1):c.347C>T (p.Thr116Ile) 63750730 MedGen:CN221809 14 73640282 73640282 C T 103908 single nucleotide variant NM_000021.3(PSEN1):c.347C>T (p.Thr116Ile) 63750730 MedGen:CN221809 14 73173574 73173574 C T 103909 single nucleotide variant NM_000021.3(PSEN1):c.349C>T (p.Pro117Ser) 63750550 MedGen:CN221809 14 73640284 73640284 C T 103909 single nucleotide variant NM_000021.3(PSEN1):c.349C>T (p.Pro117Ser) 63750550 MedGen:CN221809 14 73173576 73173576 C T 103910 single nucleotide variant NM_000021.3(PSEN1):c.350C>T (p.Pro117Leu) 63749805 MedGen:CN221809 14 73640285 73640285 C T 103910 single nucleotide variant NM_000021.3(PSEN1):c.350C>T (p.Pro117Leu) 63749805 MedGen:CN221809 14 73173577 73173577 C T 103911 single nucleotide variant NM_000021.3(PSEN1):c.358G>A (p.Glu120Lys) 63750800 MedGen:CN221809 14 73640293 73640293 G A 103911 single nucleotide variant NM_000021.3(PSEN1):c.358G>A (p.Glu120Lys) 63750800 MedGen:CN221809 14 73173585 73173585 G A 103912 single nucleotide variant NM_000021.3(PSEN1):c.367G>A (p.Glu123Lys) 63750378 MedGen:CN221809 14 73640302 73640302 G A 103912 single nucleotide variant NM_000021.3(PSEN1):c.367G>A (p.Glu123Lys) 63750378 MedGen:CN221809 14 73173594 73173594 G A 103913 single nucleotide variant NM_000021.3(PSEN1):c.403A>G (p.Asn135Asp) 63750353 MedGen:CN221809 14 73640338 73640338 A G 103913 single nucleotide variant NM_000021.3(PSEN1):c.403A>G (p.Asn135Asp) 63750353 MedGen:CN221809 14 73173630 73173630 A G 103914 single nucleotide variant NM_000021.3(PSEN1):c.404A>G (p.Asn135Ser) 63751278 MedGen:CN221809 14 73640339 73640339 A G 103914 single nucleotide variant NM_000021.3(PSEN1):c.404A>G (p.Asn135Ser) 63751278 MedGen:CN221809 14 73173631 73173631 A G 103915 single nucleotide variant NM_000021.3(PSEN1):c.416T>C (p.Met139Thr) 63751106 MedGen:CN221809 14 73640351 73640351 T C 103915 single nucleotide variant NM_000021.3(PSEN1):c.416T>C (p.Met139Thr) 63751106 MedGen:CN221809 14 73173643 73173643 T C 103916 single nucleotide variant NM_000021.3(PSEN1):c.417G>A (p.Met139Ile) 63750522 MedGen:CN221809 14 73640352 73640352 G A 103916 single nucleotide variant NM_000021.3(PSEN1):c.417G>A (p.Met139Ile) 63750522 MedGen:CN221809 14 73173644 73173644 G A 103917 single nucleotide variant NM_000021.3(PSEN1):c.427A>T (p.Ile143Phe) 63750322 MedGen:CN221809 14 73640362 73640362 A T 103917 single nucleotide variant NM_000021.3(PSEN1):c.427A>T (p.Ile143Phe) 63750322 MedGen:CN221809 14 73173654 73173654 A T 103918 single nucleotide variant NM_000021.3(PSEN1):c.428T>C (p.Ile143Thr) 63750004 MedGen:CN221809 14 73640363 73640363 T C 103918 single nucleotide variant NM_000021.3(PSEN1):c.428T>C (p.Ile143Thr) 63750004 MedGen:CN221809 14 73173655 73173655 T C 103919 single nucleotide variant NM_000021.3(PSEN1):c.429T>G (p.Ile143Met) 63751071 MedGen:CN221809 14 73640364 73640364 T G 103919 single nucleotide variant NM_000021.3(PSEN1):c.429T>G (p.Ile143Met) 63751071 MedGen:CN221809 14 73173656 73173656 T G 103920 single nucleotide variant NM_000021.3(PSEN1):c.436A>T (p.Met146Leu) 63750306 MedGen:CN221809 14 73640371 73640371 A T 103920 single nucleotide variant NM_000021.3(PSEN1):c.436A>T (p.Met146Leu) 63750306 MedGen:CN221809 14 73173663 73173663 A T 103921 single nucleotide variant NM_000021.3(PSEN1):c.438G>T (p.Met146Ile) 63750391 MedGen:CN221809 14 73640373 73640373 G T 103921 single nucleotide variant NM_000021.3(PSEN1):c.438G>T (p.Met146Ile) 63750391 MedGen:CN221809 14 73173665 73173665 G T 103922 single nucleotide variant NM_000021.3(PSEN1):c.440C>T (p.Thr147Ile) 63750907 MedGen:CN221809 14 73640375 73640375 C T 103922 single nucleotide variant NM_000021.3(PSEN1):c.440C>T (p.Thr147Ile) 63750907 MedGen:CN221809 14 73173667 73173667 C T 103923 single nucleotide variant NM_000021.3(PSEN1):c.457C>G (p.Leu153Val) 63751441 MedGen:CN221809 14 73640392 73640392 C G 103923 single nucleotide variant NM_000021.3(PSEN1):c.457C>G (p.Leu153Val) 63751441 MedGen:CN221809 14 73173684 73173684 C G 103924 single nucleotide variant NM_000021.3(PSEN1):c.460T>A (p.Tyr154Asn) 63750588 MedGen:CN221809 14 73640395 73640395 T A 103924 single nucleotide variant NM_000021.3(PSEN1):c.460T>A (p.Tyr154Asn) 63750588 MedGen:CN221809 14 73173687 73173687 T A 103925 single nucleotide variant NM_000021.3(PSEN1):c.461A>G (p.Tyr154Cys) 63751292 MedGen:CN221809 14 73640396 73640396 A G 103925 single nucleotide variant NM_000021.3(PSEN1):c.461A>G (p.Tyr154Cys) 63751292 MedGen:CN221809 14 73173688 73173688 A G 103926 insertion NM_000021.3(PSEN1):c.466_467insTTATAT (p.Lys155_Tyr156insPheIle) 63750631 MedGen:CN221809 14 73640401 73640402 - TTATAT 103926 insertion NM_000021.3(PSEN1):c.466_467insTTATAT (p.Lys155_Tyr156insPheIle) 63750631 MedGen:CN221809 14 73173693 73173694 - TTATAT 103927 single nucleotide variant NM_000021.3(PSEN1):c.493T>G (p.Trp165Gly) 63751010 MedGen:CN221809 14 73653573 73653573 T G 103927 single nucleotide variant NM_000021.3(PSEN1):c.493T>G (p.Trp165Gly) 63751010 MedGen:CN221809 14 73186865 73186865 T G 103928 single nucleotide variant NM_000021.3(PSEN1):c.495G>C (p.Trp165Cys) 63751484 MedGen:CN221809 14 73653575 73653575 G C 103928 single nucleotide variant NM_000021.3(PSEN1):c.495G>C (p.Trp165Cys) 63751484 MedGen:CN221809 14 73186867 73186867 G C 103929 deletion NM_000021.3(PSEN1):c.496_498delCTT (p.Leu166del) 63751458 MedGen:CN221809 14 73653576 73653578 CTT - 103929 deletion NM_000021.3(PSEN1):c.496_498delCTT (p.Leu166del) 63751458 MedGen:CN221809 14 73186868 73186870 CTT - 103930 single nucleotide variant NM_000021.3(PSEN1):c.497T>G (p.Leu166Arg) 63750265 MedGen:CN221809 14 73653577 73653577 T G 103930 single nucleotide variant NM_000021.3(PSEN1):c.497T>G (p.Leu166Arg) 63750265 MedGen:CN221809 14 73186869 73186869 T G 103931 deletion NM_000021.3(PSEN1):c.498_500delTAT (p.Ile168del) 63750879 MedGen:CN221809 14 73653578 73653580 TAT - 103931 deletion NM_000021.3(PSEN1):c.498_500delTAT (p.Ile168del) 63750879 MedGen:CN221809 14 73186870 73186872 TAT - 103932 single nucleotide variant NM_000021.3(PSEN1):c.505T>C (p.Ser169Pro) 63750418 MedGen:CN221809 14 73653585 73653585 T C 103932 single nucleotide variant NM_000021.3(PSEN1):c.505T>C (p.Ser169Pro) 63750418 MedGen:CN221809 14 73186877 73186877 T C 103933 single nucleotide variant NM_000021.3(PSEN1):c.506C>T (p.Ser169Leu) 63751210 MedGen:CN221809 14 73653586 73653586 C T 103933 single nucleotide variant NM_000021.3(PSEN1):c.506C>T (p.Ser169Leu) 63751210 MedGen:CN221809 14 73186878 73186878 C T 103934 single nucleotide variant NM_000021.3(PSEN1):c.512T>C (p.Leu171Pro) 63750963 MedGen:CN221809 14 73653592 73653592 T C 103934 single nucleotide variant NM_000021.3(PSEN1):c.512T>C (p.Leu171Pro) 63750963 MedGen:CN221809 14 73186884 73186884 T C 103935 single nucleotide variant NM_000021.3(PSEN1):c.518T>G (p.Leu173Trp) 63750299 MedGen:CN221809 14 73653598 73653598 T G 103935 single nucleotide variant NM_000021.3(PSEN1):c.518T>G (p.Leu173Trp) 63750299 MedGen:CN221809 14 73186890 73186890 T G 103936 single nucleotide variant NM_000021.3(PSEN1):c.521T>G (p.Leu174Arg) 63751025 MedGen:CN221809 14 73653601 73653601 T G 103936 single nucleotide variant NM_000021.3(PSEN1):c.521T>G (p.Leu174Arg) 63751025 MedGen:CN221809 14 73186893 73186893 T G 103937 single nucleotide variant NM_000021.3(PSEN1):c.524T>C (p.Phe175Ser) 63750771 MedGen:CN221809 14 73653604 73653604 T C 103937 single nucleotide variant NM_000021.3(PSEN1):c.524T>C (p.Phe175Ser) 63750771 MedGen:CN221809 14 73186896 73186896 T C 103938 single nucleotide variant NM_000021.3(PSEN1):c.529T>C (p.Phe177Leu) 63749911 MedGen:CN221809 14 73653609 73653609 T C 103938 single nucleotide variant NM_000021.3(PSEN1):c.529T>C (p.Phe177Leu) 63749911 MedGen:CN221809 14 73186901 73186901 T C 103939 single nucleotide variant NM_000021.3(PSEN1):c.530T>C (p.Phe177Ser) 63749806 MedGen:CN221809 14 73653610 73653610 T C 103939 single nucleotide variant NM_000021.3(PSEN1):c.530T>C (p.Phe177Ser) 63749806 MedGen:CN221809 14 73186902 73186902 T C 103940 single nucleotide variant NM_000021.3(PSEN1):c.532T>C (p.Ser178Pro) 63750155 MedGen:CN221809 14 73653612 73653612 T C 103940 single nucleotide variant NM_000021.3(PSEN1):c.532T>C (p.Ser178Pro) 63750155 MedGen:CN221809 14 73186904 73186904 T C 103941 single nucleotide variant NM_000021.3(PSEN1):c.552A>C (p.Glu184Asp) 63750311 MedGen:CN221809 14 73659355 73659355 A C 103941 single nucleotide variant NM_000021.3(PSEN1):c.552A>C (p.Glu184Asp) 63750311 MedGen:CN221809 14 73192647 73192647 A C 103942 single nucleotide variant NM_000021.3(PSEN1):c.616G>A (p.Gly206Ser) 63750569 MedGen:CN221809 14 73659419 73659419 G A 103942 single nucleotide variant NM_000021.3(PSEN1):c.616G>A (p.Gly206Ser) 63750569 MedGen:CN221809 14 73192711 73192711 G A 103943 single nucleotide variant NM_000021.3(PSEN1):c.617G>T (p.Gly206Val) 63750082 MedGen:CN221809 14 73659420 73659420 G T 103943 single nucleotide variant NM_000021.3(PSEN1):c.617G>T (p.Gly206Val) 63750082 MedGen:CN221809 14 73192712 73192712 G T 103944 single nucleotide variant NM_000021.3(PSEN1):c.625G>A (p.Gly209Arg) 63749880 MedGen:CN221809 14 73659428 73659428 G A 103944 single nucleotide variant NM_000021.3(PSEN1):c.625G>A (p.Gly209Arg) 63749880 MedGen:CN221809 14 73192720 73192720 G A 103945 single nucleotide variant NM_000021.3(PSEN1):c.626G>T (p.Gly209Val) 63750053 MedGen:CN221809 14 73659429 73659429 G T 103945 single nucleotide variant NM_000021.3(PSEN1):c.626G>T (p.Gly209Val) 63750053 MedGen:CN221809 14 73192721 73192721 G T 103946 single nucleotide variant NM_000021.3(PSEN1):c.637A>T (p.Ile213Phe) 63750861 MedGen:CN221809 14 73659440 73659440 A T 103946 single nucleotide variant NM_000021.3(PSEN1):c.637A>T (p.Ile213Phe) 63750861 MedGen:CN221809 14 73192732 73192732 A T 103947 single nucleotide variant NM_000021.3(PSEN1):c.638T>C (p.Ile213Thr) 63751309 MedGen:CN221809 14 73659441 73659441 T C 103947 single nucleotide variant NM_000021.3(PSEN1):c.638T>C (p.Ile213Thr) 63751309 MedGen:CN221809 14 73192733 73192733 T C 103948 single nucleotide variant NM_000021.3(PSEN1):c.640C>T (p.His214Tyr) 63751003 MedGen:CN221809 14 73659443 73659443 C T 103948 single nucleotide variant NM_000021.3(PSEN1):c.640C>T (p.His214Tyr) 63751003 MedGen:CN221809 14 73192735 73192735 C T 103949 single nucleotide variant NM_000021.3(PSEN1):c.650G>A (p.Gly217Asp) 63750444 MedGen:CN221809 14 73659453 73659453 G A 103949 single nucleotide variant NM_000021.3(PSEN1):c.650G>A (p.Gly217Asp) 63750444 MedGen:CN221809 14 73192745 73192745 G A 103950 single nucleotide variant NM_000021.3(PSEN1):c.655C>T (p.Leu219Phe) 63749987 MedGen:CN221809 14 73659458 73659458 C T 103950 single nucleotide variant NM_000021.3(PSEN1):c.655C>T (p.Leu219Phe) 63749987 MedGen:CN221809 14 73192750 73192750 C T 103951 single nucleotide variant NM_000021.3(PSEN1):c.656T>C (p.Leu219Pro) 63750761 MedGen:CN221809 14 73659459 73659459 T C 103951 single nucleotide variant NM_000021.3(PSEN1):c.656T>C (p.Leu219Pro) 63750761 MedGen:CN221809 14 73192751 73192751 T C 103952 single nucleotide variant NM_000021.3(PSEN1):c.665A>G (p.Gln222Arg) 63750009 MedGen:CN221809 14 73659468 73659468 A G 103952 single nucleotide variant NM_000021.3(PSEN1):c.665A>G (p.Gln222Arg) 63750009 MedGen:CN221809 14 73192760 73192760 A G 103953 single nucleotide variant NM_000021.3(PSEN1):c.666G>C (p.Gln222His) 63751072 MedGen:CN221809 14 73659469 73659469 G C 103953 single nucleotide variant NM_000021.3(PSEN1):c.666G>C (p.Gln222His) 63751072 MedGen:CN221809 14 73192761 73192761 G C 103954 single nucleotide variant NM_000021.3(PSEN1):c.676C>T (p.Leu226Phe) 63750487 MedGen:CN221809 14 73659479 73659479 C T 103954 single nucleotide variant NM_000021.3(PSEN1):c.676C>T (p.Leu226Phe) 63750487 MedGen:CN221809 14 73192771 73192771 C T 103955 single nucleotide variant NM_000021.3(PSEN1):c.677T>G (p.Leu226Arg) 63749961 MedGen:CN221809 14 73659480 73659480 T G 103955 single nucleotide variant NM_000021.3(PSEN1):c.677T>G (p.Leu226Arg) 63749961 MedGen:CN221809 14 73192772 73192772 T G 103956 single nucleotide variant NM_000021.3(PSEN1):c.685A>T (p.Ile229Phe) 63749970 MedGen:CN221809 14 73659488 73659488 A T 103956 single nucleotide variant NM_000021.3(PSEN1):c.685A>T (p.Ile229Phe) 63749970 MedGen:CN221809 14 73192780 73192780 A T 103957 single nucleotide variant NM_000021.3(PSEN1):c.691G>A (p.Ala231Thr) 63749836 MedGen:CN221809 14 73659494 73659494 G A 103957 single nucleotide variant NM_000021.3(PSEN1):c.691G>A (p.Ala231Thr) 63749836 MedGen:CN221809 14 73192786 73192786 G A 103958 single nucleotide variant NM_000021.3(PSEN1):c.692C>T (p.Ala231Val) 63750799 MedGen:CN221809 14 73659495 73659495 C T 103958 single nucleotide variant NM_000021.3(PSEN1):c.692C>T (p.Ala231Val) 63750799 MedGen:CN221809 14 73192787 73192787 C T 103959 single nucleotide variant NM_000021.3(PSEN1):c.697A>T (p.Met233Leu) 63751287 MedGen:CN221809 14 73659500 73659500 A T 103959 single nucleotide variant NM_000021.3(PSEN1):c.697A>T (p.Met233Leu) 63751287 MedGen:CN221809 14 73192792 73192792 A T 103960 single nucleotide variant NM_000021.3(PSEN1):c.698T>C (p.Met233Thr) 63751024 MedGen:CN221809 14 73659501 73659501 T C 103960 single nucleotide variant NM_000021.3(PSEN1):c.698T>C (p.Met233Thr) 63751024 MedGen:CN221809 14 73192793 73192793 T C 103961 single nucleotide variant NM_000021.3(PSEN1):c.699G>C (p.Met233Ile) 63751479 MedGen:CN221809 14 73659502 73659502 G C 103961 single nucleotide variant NM_000021.3(PSEN1):c.699G>C (p.Met233Ile) 63751479 MedGen:CN221809 14 73192794 73192794 G C 103962 single nucleotide variant NM_000021.3(PSEN1):c.703C>G (p.Leu235Val) 63751130 MedGen:CN221809 14 73659506 73659506 C G 103962 single nucleotide variant NM_000021.3(PSEN1):c.703C>G (p.Leu235Val) 63751130 MedGen:CN221809 14 73192798 73192798 C G 103963 single nucleotide variant NM_000021.3(PSEN1):c.704T>C (p.Leu235Pro) 63749835 MedGen:CN221809 14 73659507 73659507 T C 103963 single nucleotide variant NM_000021.3(PSEN1):c.704T>C (p.Leu235Pro) 63749835 MedGen:CN221809 14 73192799 73192799 T C 103964 single nucleotide variant NM_000021.3(PSEN1):c.709T>C (p.Phe237Leu) 63750858 MedGen:CN221809 14 73659512 73659512 T C 103964 single nucleotide variant NM_000021.3(PSEN1):c.709T>C (p.Phe237Leu) 63750858 MedGen:CN221809 14 73192804 73192804 T C 103965 single nucleotide variant NM_000021.3(PSEN1):c.733A>C (p.Thr245Pro) 63750888 MedGen:CN221809 14 73659536 73659536 A C 103965 single nucleotide variant NM_000021.3(PSEN1):c.733A>C (p.Thr245Pro) 63750888 MedGen:CN221809 14 73192828 73192828 A C 103966 single nucleotide variant NM_000021.3(PSEN1):c.748T>G (p.Leu250Val) 63750634 MedGen:CN221809 14 73659551 73659551 T G 103966 single nucleotide variant NM_000021.3(PSEN1):c.748T>G (p.Leu250Val) 63750634 MedGen:CN221809 14 73192843 73192843 T G 103967 single nucleotide variant NM_000021.3(PSEN1):c.779C>T (p.Ala260Val) 63751420 MedGen:CN221809 14 73664748 73664748 C T 103967 single nucleotide variant NM_000021.3(PSEN1):c.779C>T (p.Ala260Val) 63751420 MedGen:CN221809 14 73198040 73198040 C T 103968 single nucleotide variant NM_000021.3(PSEN1):c.781G>T (p.Val261Phe) 63750964 MedGen:CN221809 14 73664750 73664750 G T 103968 single nucleotide variant NM_000021.3(PSEN1):c.781G>T (p.Val261Phe) 63750964 MedGen:CN221809 14 73198042 73198042 G T 103969 single nucleotide variant NM_000021.3(PSEN1):c.786G>C (p.Leu262Phe) 63750248 MedGen:CN221809 14 73664755 73664755 G C 103969 single nucleotide variant NM_000021.3(PSEN1):c.786G>C (p.Leu262Phe) 63750248 MedGen:CN221809 14 73198047 73198047 G C 103970 single nucleotide variant NM_000021.3(PSEN1):c.787T>C (p.Cys263Arg) 63750543 MedGen:CN221809 14 73664756 73664756 T C 103970 single nucleotide variant NM_000021.3(PSEN1):c.787T>C (p.Cys263Arg) 63750543 MedGen:CN221809 14 73198048 73198048 T C 103971 single nucleotide variant NM_000021.3(PSEN1):c.788G>T (p.Cys263Phe) 63751102 MedGen:CN221809 14 73664757 73664757 G T 103971 single nucleotide variant NM_000021.3(PSEN1):c.788G>T (p.Cys263Phe) 63751102 MedGen:CN221809 14 73198049 73198049 G T 103972 single nucleotide variant NM_000021.3(PSEN1):c.791C>T (p.Pro264Leu) 63750301 Human Phenotype Ontology:HP:0000726,MedGen:CN000683;Human Phenotype Ontology:HP:0001268,MedGen:C1863063;MedGen:CN221809 14 73664760 73664760 C T 103972 single nucleotide variant NM_000021.3(PSEN1):c.791C>T (p.Pro264Leu) 63750301 Human Phenotype Ontology:HP:0000726,MedGen:CN000683;Human Phenotype Ontology:HP:0001268,MedGen:C1863063;MedGen:CN221809 14 73198052 73198052 C T 103973 single nucleotide variant NM_000021.3(PSEN1):c.800C>T (p.Pro267Leu) 63750779 MedGen:CN221809 14 73664769 73664769 C T 103973 single nucleotide variant NM_000021.3(PSEN1):c.800C>T (p.Pro267Leu) 63750779 MedGen:CN221809 14 73198061 73198061 C T 103974 single nucleotide variant NM_000021.3(PSEN1):c.805C>G (p.Arg269Gly) 63751019 MedGen:CN221809 14 73664774 73664774 C G 103974 single nucleotide variant NM_000021.3(PSEN1):c.805C>G (p.Arg269Gly) 63751019 MedGen:CN221809 14 73198066 73198066 C G 103975 single nucleotide variant NM_000021.3(PSEN1):c.815T>C (p.Val272Ala) 63750680 MedGen:CN221809 14 73664784 73664784 T C 103975 single nucleotide variant NM_000021.3(PSEN1):c.815T>C (p.Val272Ala) 63750680 MedGen:CN221809 14 73198076 73198076 T C 103976 single nucleotide variant NM_000021.3(PSEN1):c.818A>C (p.Glu273Ala) 63750772 MedGen:CN221809 14 73664787 73664787 A C 103976 single nucleotide variant NM_000021.3(PSEN1):c.818A>C (p.Glu273Ala) 63750772 MedGen:CN221809 14 73198079 73198079 A C 103977 single nucleotide variant NM_000021.3(PSEN1):c.821C>G (p.Thr274Arg) 63750284 MedGen:CN221809 14 73664790 73664790 C G 103977 single nucleotide variant NM_000021.3(PSEN1):c.821C>G (p.Thr274Arg) 63750284 MedGen:CN221809 14 73198082 73198082 C G 103978 single nucleotide variant NM_000021.3(PSEN1):c.834A>C (p.Arg278Ser) 63750524 MedGen:CN221809 14 73664803 73664803 A C 103978 single nucleotide variant NM_000021.3(PSEN1):c.834A>C (p.Arg278Ser) 63750524 MedGen:CN221809 14 73198095 73198095 A C 103979 single nucleotide variant NM_000021.3(PSEN1):c.844C>G (p.Leu282Val) 63749937 MedGen:CN221809 14 73664813 73664813 C G 103979 single nucleotide variant NM_000021.3(PSEN1):c.844C>G (p.Leu282Val) 63749937 MedGen:CN221809 14 73198105 73198105 C G 103980 single nucleotide variant NM_000021.3(PSEN1):c.845T>G (p.Leu282Arg) 63750050 MedGen:CN221809 14 73664814 73664814 T G 103980 single nucleotide variant NM_000021.3(PSEN1):c.845T>G (p.Leu282Arg) 63750050 MedGen:CN221809 14 73198106 73198106 T G 103981 single nucleotide variant NM_000021.3(PSEN1):c.850C>T (p.Pro284Ser) 63750324 MedGen:CN221809 14 73664819 73664819 C T 103981 single nucleotide variant NM_000021.3(PSEN1):c.850C>T (p.Pro284Ser) 63750324 MedGen:CN221809 14 73198111 73198111 C T 103982 single nucleotide variant NM_000021.3(PSEN1):c.851C>T (p.Pro284Leu) 63750863 MedGen:CN221809 14 73664820 73664820 C T 103982 single nucleotide variant NM_000021.3(PSEN1):c.851C>T (p.Pro284Leu) 63750863 MedGen:CN221809 14 73198112 73198112 C T 103983 single nucleotide variant NM_000021.3(PSEN1):c.854C>T (p.Ala285Val) 63751139 MedGen:CN221809 14 73664823 73664823 C T 103983 single nucleotide variant NM_000021.3(PSEN1):c.854C>T (p.Ala285Val) 63751139 MedGen:CN221809 14 73198115 73198115 C T 103984 single nucleotide variant NM_000021.3(PSEN1):c.869-1G>T 63750219 MedGen:CN221809 14 73673093 73673093 G T 103984 single nucleotide variant NM_000021.3(PSEN1):c.869-1G>T 63750219 MedGen:CN221809 14 73206385 73206385 G T 103985 single nucleotide variant NM_000021.3(PSEN1):c.871A>C (p.Thr291Pro) 63750298 MedGen:CN221809 14 73673096 73673096 A C 103985 single nucleotide variant NM_000021.3(PSEN1):c.871A>C (p.Thr291Pro) 63750298 MedGen:CN221809 14 73206388 73206388 A C 103986 single nucleotide variant NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly) 17125721 MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:CN239310;MedGen:CN043596;MedGen:CN221809;MedGen:CN169374 14 73673178 73673178 A G 103986 single nucleotide variant NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly) 17125721 MedGen:C0002395,OMIM:104300,SNOMED CT:C0002395;MedGen:CN239310;MedGen:CN043596;MedGen:CN221809;MedGen:CN169374 14 73206470 73206470 A G 103987 duplication NM_000021.3(PSEN1):c.1053_1055dupTCG (p.Arg352_Ser353insArg) 63750762 MedGen:CN221809 14 73678574 73678576 TCG TCGTCG 103987 duplication NM_000021.3(PSEN1):c.1053_1055dupTCG (p.Arg352_Ser353insArg) 63750762 MedGen:CN221809 14 73211866 73211868 TCG TCGTCG 103988 single nucleotide variant NM_000021.3(PSEN1):c.1061C>T (p.Thr354Ile) 63751164 MedGen:CN221809 14 73678582 73678582 C T 103988 single nucleotide variant NM_000021.3(PSEN1):c.1061C>T (p.Thr354Ile) 63751164 MedGen:CN221809 14 73211874 73211874 C T 103989 single nucleotide variant NM_000021.3(PSEN1):c.1073G>A (p.Arg358Gln) 63751174 MedGen:CN221809 14 73678594 73678594 G A 103989 single nucleotide variant NM_000021.3(PSEN1):c.1073G>A (p.Arg358Gln) 63751174 MedGen:CN221809 14 73211886 73211886 G A 103990 single nucleotide variant NM_000021.3(PSEN1):c.1094C>A (p.Ser365Tyr) 63750941 MedGen:CN221809 14 73678615 73678615 C A 103990 single nucleotide variant NM_000021.3(PSEN1):c.1094C>A (p.Ser365Tyr) 63750941 MedGen:CN221809 14 73211907 73211907 C A 103991 single nucleotide variant NM_000021.3(PSEN1):c.1130G>T (p.Arg377Met) 63751051 MedGen:CN221809 14 73683834 73683834 G T 103991 single nucleotide variant NM_000021.3(PSEN1):c.1130G>T (p.Arg377Met) 63751051 MedGen:CN221809 14 73217126 73217126 G T 103992 single nucleotide variant NM_000021.3(PSEN1):c.1133G>T (p.Gly378Val) 63750323 MedGen:CN221809 14 73683837 73683837 G T 103992 single nucleotide variant NM_000021.3(PSEN1):c.1133G>T (p.Gly378Val) 63750323 MedGen:CN221809 14 73217129 73217129 G T 103993 single nucleotide variant NM_000021.3(PSEN1):c.1141C>G (p.Leu381Val) 63750687 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73683845 73683845 C G 103993 single nucleotide variant NM_000021.3(PSEN1):c.1141C>G (p.Leu381Val) 63750687 MedGen:C1843013,OMIM:607822;MedGen:CN221809 14 73217137 73217137 C G 103994 single nucleotide variant NM_000021.3(PSEN1):c.1151G>C (p.Gly384Ala) 63750646 MedGen:CN221809 14 73683855 73683855 G C 103994 single nucleotide variant NM_000021.3(PSEN1):c.1151G>C (p.Gly384Ala) 63750646 MedGen:CN221809 14 73217147 73217147 G C 103995 single nucleotide variant NM_000021.3(PSEN1):c.1157T>C (p.Phe386Ser) 63749860 MedGen:CN221809 14 73683861 73683861 T C 103995 single nucleotide variant NM_000021.3(PSEN1):c.1157T>C (p.Phe386Ser) 63749860 MedGen:CN221809 14 73217153 73217153 T C 103996 single nucleotide variant NM_000021.3(PSEN1):c.1169G>T (p.Ser390Ile) 63750883 MedGen:CN221809 14 73683873 73683873 G T 103996 single nucleotide variant NM_000021.3(PSEN1):c.1169G>T (p.Ser390Ile) 63750883 MedGen:CN221809 14 73217165 73217165 G T 103997 single nucleotide variant NM_000021.3(PSEN1):c.1171G>T (p.Val391Phe) 63751066 MedGen:CN221809 14 73683875 73683875 G T 103997 single nucleotide variant NM_000021.3(PSEN1):c.1171G>T (p.Val391Phe) 63751066 MedGen:CN221809 14 73217167 73217167 G T 103998 single nucleotide variant NM_000021.3(PSEN1):c.1174C>G (p.Leu392Val) 63751416 MedGen:CN221809 14 73683878 73683878 C G 103998 single nucleotide variant NM_000021.3(PSEN1):c.1174C>G (p.Leu392Val) 63751416 MedGen:CN221809 14 73217170 73217170 C G 103999 single nucleotide variant NM_000021.3(PSEN1):c.1181G>T (p.Gly394Val) 63750929 MedGen:CN221809 14 73683885 73683885 G T 103999 single nucleotide variant NM_000021.3(PSEN1):c.1181G>T (p.Gly394Val) 63750929 MedGen:CN221809 14 73217177 73217177 G T 104000 single nucleotide variant NM_000021.3(PSEN1):c.1214A>G (p.Asn405Ser) 63751254 MedGen:CN221809 14 73683918 73683918 A G 104000 single nucleotide variant NM_000021.3(PSEN1):c.1214A>G (p.Asn405Ser) 63751254 MedGen:CN221809 14 73217210 73217210 A G 104001 single nucleotide variant NM_000021.3(PSEN1):c.1225G>A (p.Ala409Thr) 63750227 MedGen:CN221809 14 73683929 73683929 G A 104001 single nucleotide variant NM_000021.3(PSEN1):c.1225G>A (p.Ala409Thr) 63750227 MedGen:CN221809 14 73217221 73217221 G A 104002 single nucleotide variant NM_000021.3(PSEN1):c.1254G>T (p.Leu418Phe) 63751316 MedGen:CN221809 14 73685847 73685847 G T 104002 single nucleotide variant NM_000021.3(PSEN1):c.1254G>T (p.Leu418Phe) 63751316 MedGen:CN221809 14 73219139 73219139 G T 104003 single nucleotide variant NM_000021.3(PSEN1):c.1259T>G (p.Leu420Arg) 63750802 MedGen:CN221809 14 73685852 73685852 T G 104003 single nucleotide variant NM_000021.3(PSEN1):c.1259T>G (p.Leu420Arg) 63750802 MedGen:CN221809 14 73219144 73219144 T G 104004 single nucleotide variant NM_000021.3(PSEN1):c.1271T>G (p.Leu424Arg) 63751032 MedGen:CN221809 14 73685864 73685864 T G 104004 single nucleotide variant NM_000021.3(PSEN1):c.1271T>G (p.Leu424Arg) 63751032 MedGen:CN221809 14 73219156 73219156 T G 104005 single nucleotide variant NM_000021.3(PSEN1):c.1292C>T (p.Ala431Val) 63750083 MedGen:CN221809 14 73685885 73685885 C T 104005 single nucleotide variant NM_000021.3(PSEN1):c.1292C>T (p.Ala431Val) 63750083 MedGen:CN221809 14 73219177 73219177 C T 104006 single nucleotide variant NM_000021.3(PSEN1):c.1303C>T (p.Leu435Phe) 63750001 MedGen:CN221809 14 73685896 73685896 C T 104006 single nucleotide variant NM_000021.3(PSEN1):c.1303C>T (p.Leu435Phe) 63750001 MedGen:CN221809 14 73219188 73219188 C T 104007 single nucleotide variant NM_000021.3(PSEN1):c.1306C>T (p.Pro436Ser) 63749925 MedGen:CN221809 14 73685899 73685899 C T 104007 single nucleotide variant NM_000021.3(PSEN1):c.1306C>T (p.Pro436Ser) 63749925 MedGen:CN221809 14 73219191 73219191 C T 104008 single nucleotide variant NM_000021.3(PSEN1):c.1315A>G (p.Ile439Val) 63750249 MedGen:CN221809 14 73685908 73685908 A G 104008 single nucleotide variant NM_000021.3(PSEN1):c.1315A>G (p.Ile439Val) 63750249 MedGen:CN221809 14 73219200 73219200 A G 104009 deletion NM_000021.3(PSEN1):c.1318_1320delACC (p.Thr440del) 63750470 MedGen:CN221809 14 73685911 73685913 ACC - 104009 deletion NM_000021.3(PSEN1):c.1318_1320delACC (p.Thr440del) 63750470 MedGen:CN221809 14 73219203 73219205 ACC - 125778 single nucleotide variant NM_000021.3(PSEN1):c.1141C>T (p.Leu381Phe) 63750687 MedGen:C4015782 14 73217137 73217137 C T 125778 single nucleotide variant NM_000021.3(PSEN1):c.1141C>T (p.Leu381Phe) 63750687 MedGen:C4015782 14 73683845 73683845 C T 172119 deletion NG_007386.2:g.72916_78773del5858 63751793 MedGen:CN221809 14 73204386 73210243 na na 172119 deletion NG_007386.2:g.72916_78773del5858 63751793 MedGen:CN221809 14 73671094 73676951 na na 172120 deletion NG_007386.2:g.73292_77846del4555 63751638 MedGen:CN221809 14 73204762 73209316 na na 172120 deletion NG_007386.2:g.73292_77846del4555 63751638 MedGen:CN221809 14 73671470 73676024 na na 189958 single nucleotide variant NM_000021.3(PSEN1):c.322C>T (p.Arg108Trp) 200576075 MedGen:CN221809 14 73171031 73171031 C T 189958 single nucleotide variant NM_000021.3(PSEN1):c.322C>T (p.Arg108Trp) 200576075 MedGen:CN221809 14 73637739 73637739 C T 189959 single nucleotide variant NM_000021.3(PSEN1):c.782T>G (p.Val261Gly) 199723282 MedGen:CN169374 14 73198043 73198043 T G 189959 single nucleotide variant NM_000021.3(PSEN1):c.782T>G (p.Val261Gly) 199723282 MedGen:CN169374 14 73664751 73664751 T G 255043 single nucleotide variant NM_000021.3(PSEN1):c.868+16G>T 165932 MedGen:CN169374 14 73664853 73664853 G T 255043 single nucleotide variant NM_000021.3(PSEN1):c.868+16G>T 165932 MedGen:CN169374 14 73198145 73198145 G T 255044 single nucleotide variant NM_000021.3(PSEN1):c.1017A>G (p.Glu339=) 201776669 MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 14 73678538 73678538 A G 255044 single nucleotide variant NM_000021.3(PSEN1):c.1017A>G (p.Glu339=) 201776669 MedGen:CN239310;MedGen:CN043596;MedGen:CN169374 14 73211830 73211830 A G 270359 single nucleotide variant NM_000021.3(PSEN1):c.1263A>G (p.Thr421=) 759120634 MedGen:CN169374 14 73685856 73685856 A G 270359 single nucleotide variant NM_000021.3(PSEN1):c.1263A>G (p.Thr421=) 759120634 MedGen:CN169374 14 73219148 73219148 A G 321078 single nucleotide variant NM_000021.3(PSEN1):c.21G>A (p.Pro7=) 116466962 MedGen:CN239310;MedGen:CN043596 14 73614748 73614748 G A 321078 single nucleotide variant NM_000021.3(PSEN1):c.21G>A (p.Pro7=) 116466962 MedGen:CN239310;MedGen:CN043596 14 73148040 73148040 G A 321082 single nucleotide variant NM_000021.3(PSEN1):c.79C>T (p.Arg27Cys) 886050663 MedGen:CN239310;MedGen:CN043596 14 73614806 73614806 C T 321082 single nucleotide variant NM_000021.3(PSEN1):c.79C>T (p.Arg27Cys) 886050663 MedGen:CN239310;MedGen:CN043596 14 73148098 73148098 C T 321094 single nucleotide variant NM_000021.3(PSEN1):c.*672G>A 192897390 MedGen:CN239310;MedGen:CN043596 14 73219961 73219961 G A 321094 single nucleotide variant NM_000021.3(PSEN1):c.*672G>A 192897390 MedGen:CN239310;MedGen:CN043596 14 73686669 73686669 G A 321095 single nucleotide variant NM_000021.3(PSEN1):c.*1380C>T 181825217 MedGen:CN239310;MedGen:CN043596 14 73220669 73220669 C T 321095 single nucleotide variant NM_000021.3(PSEN1):c.*1380C>T 181825217 MedGen:CN239310;MedGen:CN043596 14 73687377 73687377 C T 321099 single nucleotide variant NM_000021.3(PSEN1):c.*1381G>A 362387 MedGen:CN239310;MedGen:CN043596 14 73220670 73220670 G A 321099 single nucleotide variant NM_000021.3(PSEN1):c.*1381G>A 362387 MedGen:CN239310;MedGen:CN043596 14 73687378 73687378 G A 321108 duplication NM_000021.3(PSEN1):c.*1726_*1730dupTATGA 886050670 MedGen:CN239310;MedGen:CN043596 14 73221015 73221019 TATGA TATGATATGA 321108 duplication NM_000021.3(PSEN1):c.*1726_*1730dupTATGA 886050670 MedGen:CN239310;MedGen:CN043596 14 73687723 73687727 TATGA TATGATATGA 321109 deletion NM_000021.3(PSEN1):c.*1871_*1874delACAG 886050673 MedGen:CN239310;MedGen:CN043596 14 73221160 73221163 ACAG - 321109 deletion NM_000021.3(PSEN1):c.*1871_*1874delACAG 886050673 MedGen:CN239310;MedGen:CN043596 14 73687868 73687871 ACAG - 321113 single nucleotide variant NM_000021.3(PSEN1):c.*1958T>C 779158922 MedGen:CN239310;MedGen:CN043596 14 73221247 73221247 T C 321113 single nucleotide variant NM_000021.3(PSEN1):c.*1958T>C 779158922 MedGen:CN239310;MedGen:CN043596 14 73687955 73687955 T C 321115 single nucleotide variant NM_000021.3(PSEN1):c.*2161G>A 535590491 MedGen:CN239310;MedGen:CN043596 14 73221450 73221450 G A 321115 single nucleotide variant NM_000021.3(PSEN1):c.*2161G>A 535590491 MedGen:CN239310;MedGen:CN043596 14 73688158 73688158 G A 321116 single nucleotide variant NM_000021.3(PSEN1):c.*2430T>C 362388 MedGen:CN239310;MedGen:CN043596 14 73688427 73688427 T C 321116 single nucleotide variant NM_000021.3(PSEN1):c.*2430T>C 362388 MedGen:CN239310;MedGen:CN043596 14 73221719 73221719 T C 321117 single nucleotide variant NM_000021.3(PSEN1):c.*2659A>T 531711335 MedGen:CN239310;MedGen:CN043596 14 73688656 73688656 A T 321117 single nucleotide variant NM_000021.3(PSEN1):c.*2659A>T 531711335 MedGen:CN239310;MedGen:CN043596 14 73221948 73221948 A T 321121 single nucleotide variant NM_000021.3(PSEN1):c.*3495A>G 141799841 MedGen:CN239310;MedGen:CN043596 14 73689492 73689492 A G 321121 single nucleotide variant NM_000021.3(PSEN1):c.*3495A>G 141799841 MedGen:CN239310;MedGen:CN043596 14 73222784 73222784 A G 321122 single nucleotide variant NM_000021.3(PSEN1):c.*3525A>G 362391 MedGen:CN239310;MedGen:CN043596 14 73222814 73222814 A G 321122 single nucleotide variant NM_000021.3(PSEN1):c.*3525A>G 362391 MedGen:CN239310;MedGen:CN043596 14 73689522 73689522 A G 321123 single nucleotide variant NM_000021.3(PSEN1):c.*4078C>T 533047073 MedGen:CN239310;MedGen:CN043596 14 73223367 73223367 C T 321123 single nucleotide variant NM_000021.3(PSEN1):c.*4078C>T 533047073 MedGen:CN239310;MedGen:CN043596 14 73690075 73690075 C T 321124 single nucleotide variant NM_000021.3(PSEN1):c.*4339T>C 757221245 MedGen:CN239310;MedGen:CN043596 14 73223628 73223628 T C 321124 single nucleotide variant NM_000021.3(PSEN1):c.*4339T>C 757221245 MedGen:CN239310;MedGen:CN043596 14 73690336 73690336 T C 330235 single nucleotide variant NM_000021.3(PSEN1):c.-241G>T 886050661 MedGen:CN239310;MedGen:CN043596 14 73603186 73603186 G T 330235 single nucleotide variant NM_000021.3(PSEN1):c.-241G>T 886050661 MedGen:CN239310;MedGen:CN043596 14 73136478 73136478 G T 330237 single nucleotide variant NM_000021.3(PSEN1):c.-226C>A 200531676 MedGen:CN239310;MedGen:CN043596 14 73603201 73603201 C A 330237 single nucleotide variant NM_000021.3(PSEN1):c.-226C>A 200531676 MedGen:CN239310;MedGen:CN043596 14 73136493 73136493 C A 330240 single nucleotide variant NM_000021.3(PSEN1):c.654A>G (p.Pro218=) 115760359 MedGen:CN239310;MedGen:CN043596 14 73659457 73659457 A G 330240 single nucleotide variant NM_000021.3(PSEN1):c.654A>G (p.Pro218=) 115760359 MedGen:CN239310;MedGen:CN043596 14 73192749 73192749 A G 330241 single nucleotide variant NM_000021.3(PSEN1):c.*23T>C 886050664 MedGen:CN239310;MedGen:CN043596 14 73686020 73686020 T C 330241 single nucleotide variant NM_000021.3(PSEN1):c.*23T>C 886050664 MedGen:CN239310;MedGen:CN043596 14 73219312 73219312 T C 330246 single nucleotide variant NM_000021.3(PSEN1):c.*313C>A 362384 MedGen:CN239310;MedGen:CN043596 14 73219602 73219602 C A 330246 single nucleotide variant NM_000021.3(PSEN1):c.*313C>A 362384 MedGen:CN239310;MedGen:CN043596 14 73686310 73686310 C A 330247 single nucleotide variant NM_000021.3(PSEN1):c.*595T>C 886050665 MedGen:CN239310;MedGen:CN043596 14 73219884 73219884 T C 330247 single nucleotide variant NM_000021.3(PSEN1):c.*595T>C 886050665 MedGen:CN239310;MedGen:CN043596 14 73686592 73686592 T C 330249 single nucleotide variant NM_000021.3(PSEN1):c.*947G>A 7523 MedGen:CN239310;MedGen:CN043596 14 73220236 73220236 G A 330249 single nucleotide variant NM_000021.3(PSEN1):c.*947G>A 7523 MedGen:CN239310;MedGen:CN043596 14 73686944 73686944 G A 330252 single nucleotide variant NM_000021.3(PSEN1):c.*1145G>A 886050666 MedGen:CN239310;MedGen:CN043596 14 73220434 73220434 G A 330252 single nucleotide variant NM_000021.3(PSEN1):c.*1145G>A 886050666 MedGen:CN239310;MedGen:CN043596 14 73687142 73687142 G A 330254 single nucleotide variant NM_000021.3(PSEN1):c.*1360G>C 886050667 MedGen:CN239310;MedGen:CN043596 14 73220649 73220649 G C 330254 single nucleotide variant NM_000021.3(PSEN1):c.*1360G>C 886050667 MedGen:CN239310;MedGen:CN043596 14 73687357 73687357 G C 330257 single nucleotide variant NM_000021.3(PSEN1):c.*1415C>A 574671310 MedGen:CN239310;MedGen:CN043596 14 73220704 73220704 C A 330257 single nucleotide variant NM_000021.3(PSEN1):c.*1415C>A 574671310 MedGen:CN239310;MedGen:CN043596 14 73687412 73687412 C A 330266 single nucleotide variant NM_000021.3(PSEN1):c.*1725A>G 886050671 MedGen:CN239310;MedGen:CN043596 14 73687722 73687722 A G 330266 single nucleotide variant NM_000021.3(PSEN1):c.*1725A>G 886050671 MedGen:CN239310;MedGen:CN043596 14 73221014 73221014 A G 330269 single nucleotide variant NM_000021.3(PSEN1):c.*1791A>T 177412 MedGen:CN239310;MedGen:CN043596 14 73221080 73221080 A T 330269 single nucleotide variant NM_000021.3(PSEN1):c.*1791A>T 177412 MedGen:CN239310;MedGen:CN043596 14 73687788 73687788 A T 330275 single nucleotide variant NM_000021.3(PSEN1):c.*1792T>C 886050672 MedGen:CN239310;MedGen:CN043596 14 73221081 73221081 T C 330275 single nucleotide variant NM_000021.3(PSEN1):c.*1792T>C 886050672 MedGen:CN239310;MedGen:CN043596 14 73687789 73687789 T C 330278 single nucleotide variant NM_000021.3(PSEN1):c.*1874G>T 141117435 MedGen:CN239310;MedGen:CN043596 14 73221163 73221163 G T 330278 single nucleotide variant NM_000021.3(PSEN1):c.*1874G>T 141117435 MedGen:CN239310;MedGen:CN043596 14 73687871 73687871 G T 330285 single nucleotide variant NM_000021.3(PSEN1):c.*2108G>A 368329004 MedGen:CN239310;MedGen:CN043596 14 73221397 73221397 G A 330285 single nucleotide variant NM_000021.3(PSEN1):c.*2108G>A 368329004 MedGen:CN239310;MedGen:CN043596 14 73688105 73688105 G A 330286 single nucleotide variant NM_000021.3(PSEN1):c.*2401C>T 886050676 MedGen:CN239310;MedGen:CN043596 14 73688398 73688398 C T 330286 single nucleotide variant NM_000021.3(PSEN1):c.*2401C>T 886050676 MedGen:CN239310;MedGen:CN043596 14 73221690 73221690 C T 330288 deletion NM_000021.3(PSEN1):c.*3037_*3038delCT 886050680 MedGen:CN239310;MedGen:CN043596 14 73689034 73689035 CT - 330288 deletion NM_000021.3(PSEN1):c.*3037_*3038delCT 886050680 MedGen:CN239310;MedGen:CN043596 14 73222326 73222327 CT - 330289 single nucleotide variant NM_000021.3(PSEN1):c.*3199C>T 371718090 MedGen:CN239310;MedGen:CN043596 14 73689196 73689196 C T 330289 single nucleotide variant NM_000021.3(PSEN1):c.*3199C>T 371718090 MedGen:CN239310;MedGen:CN043596 14 73222488 73222488 C T 330296 single nucleotide variant NM_000021.3(PSEN1):c.*3637C>T 114000457 MedGen:CN239310;MedGen:CN043596 14 73222926 73222926 C T 330296 single nucleotide variant NM_000021.3(PSEN1):c.*3637C>T 114000457 MedGen:CN239310;MedGen:CN043596 14 73689634 73689634 C T 330302 single nucleotide variant NM_000021.3(PSEN1):c.*3722C>T 362344 MedGen:CN239310;MedGen:CN043596 14 73223011 73223011 C T 330302 single nucleotide variant NM_000021.3(PSEN1):c.*3722C>T 362344 MedGen:CN239310;MedGen:CN043596 14 73689719 73689719 C T 330308 single nucleotide variant NM_000021.3(PSEN1):c.*3823G>A 362394 MedGen:CN239310;MedGen:CN043596 14 73223112 73223112 G A 330308 single nucleotide variant NM_000021.3(PSEN1):c.*3823G>A 362394 MedGen:CN239310;MedGen:CN043596 14 73689820 73689820 G A 330316 single nucleotide variant NM_000021.3(PSEN1):c.*3848G>C 886050682 MedGen:CN239310;MedGen:CN043596 14 73223137 73223137 G C 330316 single nucleotide variant NM_000021.3(PSEN1):c.*3848G>C 886050682 MedGen:CN239310;MedGen:CN043596 14 73689845 73689845 G C 330317 single nucleotide variant NM_000021.3(PSEN1):c.*3889G>A 17125952 MedGen:CN239310;MedGen:CN043596 14 73223178 73223178 G A 330317 single nucleotide variant NM_000021.3(PSEN1):c.*3889G>A 17125952 MedGen:CN239310;MedGen:CN043596 14 73689886 73689886 G A 330321 single nucleotide variant NM_000021.3(PSEN1):c.*4147T>G 362396 MedGen:CN239310;MedGen:CN043596 14 73223436 73223436 T G 330321 single nucleotide variant NM_000021.3(PSEN1):c.*4147T>G 362396 MedGen:CN239310;MedGen:CN043596 14 73690144 73690144 T G 330326 single nucleotide variant NM_000021.3(PSEN1):c.*4367T>C 574271978 MedGen:CN239310;MedGen:CN043596 14 73223656 73223656 T C 330326 single nucleotide variant NM_000021.3(PSEN1):c.*4367T>C 574271978 MedGen:CN239310;MedGen:CN043596 14 73690364 73690364 T C 336728 single nucleotide variant NM_000021.3(PSEN1):c.-191C>T 199680675 MedGen:CN239310;MedGen:CN043596 14 73603236 73603236 C T 336728 single nucleotide variant NM_000021.3(PSEN1):c.-191C>T 199680675 MedGen:CN239310;MedGen:CN043596 14 73136528 73136528 C T 336729 single nucleotide variant NM_000021.3(PSEN1):c.1248+8T>C 362382 MedGen:CN239310;MedGen:CN043596 14 73683960 73683960 T C 336729 single nucleotide variant NM_000021.3(PSEN1):c.1248+8T>C 362382 MedGen:CN239310;MedGen:CN043596 14 73217252 73217252 T C 336730 single nucleotide variant NM_000021.3(PSEN1):c.*71A>G 201452973 MedGen:CN239310;MedGen:CN043596 14 73219360 73219360 A G 336730 single nucleotide variant NM_000021.3(PSEN1):c.*71A>G 201452973 MedGen:CN239310;MedGen:CN043596 14 73686068 73686068 A G 336732 single nucleotide variant NM_000021.3(PSEN1):c.*1147C>T 165935 MedGen:CN239310;MedGen:CN043596 14 73220436 73220436 C T 336732 single nucleotide variant NM_000021.3(PSEN1):c.*1147C>T 165935 MedGen:CN239310;MedGen:CN043596 14 73687144 73687144 C T 336733 single nucleotide variant NM_000021.3(PSEN1):c.*1418G>A 886050668 MedGen:CN239310;MedGen:CN043596 14 73220707 73220707 G A 336733 single nucleotide variant NM_000021.3(PSEN1):c.*1418G>A 886050668 MedGen:CN239310;MedGen:CN043596 14 73687415 73687415 G A 336754 single nucleotide variant NM_000021.3(PSEN1):c.*1626C>A 886050669 MedGen:CN239310;MedGen:CN043596 14 73220915 73220915 C A 336754 single nucleotide variant NM_000021.3(PSEN1):c.*1626C>A 886050669 MedGen:CN239310;MedGen:CN043596 14 73687623 73687623 C A 336762 single nucleotide variant NM_000021.3(PSEN1):c.*1690T>C 10143618 MedGen:CN239310;MedGen:CN043596 14 73220979 73220979 T C 336762 single nucleotide variant NM_000021.3(PSEN1):c.*1690T>C 10143618 MedGen:CN239310;MedGen:CN043596 14 73687687 73687687 T C 336763 single nucleotide variant NM_000021.3(PSEN1):c.*2330G>T 886050675 MedGen:CN239310;MedGen:CN043596 14 73688327 73688327 G T 336763 single nucleotide variant NM_000021.3(PSEN1):c.*2330G>T 886050675 MedGen:CN239310;MedGen:CN043596 14 73221619 73221619 G T 336767 single nucleotide variant NM_000021.3(PSEN1):c.*2633G>A 564490926 MedGen:CN239310;MedGen:CN043596 14 73688630 73688630 G A 336767 single nucleotide variant NM_000021.3(PSEN1):c.*2633G>A 564490926 MedGen:CN239310;MedGen:CN043596 14 73221922 73221922 G A 336768 single nucleotide variant NM_000021.3(PSEN1):c.*2758T>G 886050677 MedGen:CN239310;MedGen:CN043596 14 73688755 73688755 T G 336768 single nucleotide variant NM_000021.3(PSEN1):c.*2758T>G 886050677 MedGen:CN239310;MedGen:CN043596 14 73222047 73222047 T G 336779 single nucleotide variant NM_000021.3(PSEN1):c.*2836C>T 886050678 MedGen:CN239310;MedGen:CN043596 14 73688833 73688833 C T 336779 single nucleotide variant NM_000021.3(PSEN1):c.*2836C>T 886050678 MedGen:CN239310;MedGen:CN043596 14 73222125 73222125 C T 336790 single nucleotide variant NM_000021.3(PSEN1):c.*3632G>A 362393 MedGen:CN239310;MedGen:CN043596 14 73222921 73222921 G A 336790 single nucleotide variant NM_000021.3(PSEN1):c.*3632G>A 362393 MedGen:CN239310;MedGen:CN043596 14 73689629 73689629 G A 336808 single nucleotide variant NM_000021.3(PSEN1):c.*3941C>A 144455736 MedGen:CN239310;MedGen:CN043596 14 73223230 73223230 C A 336808 single nucleotide variant NM_000021.3(PSEN1):c.*3941C>A 144455736 MedGen:CN239310;MedGen:CN043596 14 73689938 73689938 C A 336809 single nucleotide variant NM_000021.3(PSEN1):c.*4030A>G 186752250 MedGen:CN239310;MedGen:CN043596 14 73223319 73223319 A G 336809 single nucleotide variant NM_000021.3(PSEN1):c.*4030A>G 186752250 MedGen:CN239310;MedGen:CN043596 14 73690027 73690027 A G 338733 single nucleotide variant NM_000021.3(PSEN1):c.-214T>G 886050662 MedGen:CN239310;MedGen:CN043596 14 73603213 73603213 T G 338733 single nucleotide variant NM_000021.3(PSEN1):c.-214T>G 886050662 MedGen:CN239310;MedGen:CN043596 14 73136505 73136505 T G 338737 single nucleotide variant NM_000021.3(PSEN1):c.-180C>T 200632899 MedGen:CN239310;MedGen:CN043596 14 73603247 73603247 C T 338737 single nucleotide variant NM_000021.3(PSEN1):c.-180C>T 200632899 MedGen:CN239310;MedGen:CN043596 14 73136539 73136539 C T 338739 single nucleotide variant NM_000021.3(PSEN1):c.337C>T (p.Leu113=) 201500006 MedGen:CN239310;MedGen:CN043596 14 73637754 73637754 C T 338739 single nucleotide variant NM_000021.3(PSEN1):c.337C>T (p.Leu113=) 201500006 MedGen:CN239310;MedGen:CN043596 14 73171046 73171046 C T 338744 single nucleotide variant NM_000021.3(PSEN1):c.1002C>T (p.Gly334=) 116640707 MedGen:CN239310;MedGen:CN043596 14 73678523 73678523 C T 338744 single nucleotide variant NM_000021.3(PSEN1):c.1002C>T (p.Gly334=) 116640707 MedGen:CN239310;MedGen:CN043596 14 73211815 73211815 C T 338747 single nucleotide variant NM_000021.3(PSEN1):c.*119T>C 201908084 MedGen:CN239310;MedGen:CN043596 14 73219408 73219408 T C 338747 single nucleotide variant NM_000021.3(PSEN1):c.*119T>C 201908084 MedGen:CN239310;MedGen:CN043596 14 73686116 73686116 T C 338748 single nucleotide variant NM_000021.3(PSEN1):c.*211G>A 200186908 MedGen:CN239310;MedGen:CN043596 14 73219500 73219500 G A 338748 single nucleotide variant NM_000021.3(PSEN1):c.*211G>A 200186908 MedGen:CN239310;MedGen:CN043596 14 73686208 73686208 G A 338752 single nucleotide variant NM_000021.3(PSEN1):c.*360A>C 202176028 MedGen:CN239310;MedGen:CN043596 14 73219649 73219649 A C 338752 single nucleotide variant NM_000021.3(PSEN1):c.*360A>C 202176028 MedGen:CN239310;MedGen:CN043596 14 73686357 73686357 A C 338754 single nucleotide variant NM_000021.3(PSEN1):c.*364T>C 362385 MedGen:CN239310;MedGen:CN043596 14 73219653 73219653 T C 338754 single nucleotide variant NM_000021.3(PSEN1):c.*364T>C 362385 MedGen:CN239310;MedGen:CN043596 14 73686361 73686361 T C 338755 single nucleotide variant NM_000021.3(PSEN1):c.*768A>G 200194433 MedGen:CN239310;MedGen:CN043596 14 73220057 73220057 A G 338755 single nucleotide variant NM_000021.3(PSEN1):c.*768A>G 200194433 MedGen:CN239310;MedGen:CN043596 14 73686765 73686765 A G 338758 single nucleotide variant NM_000021.3(PSEN1):c.*1585A>T 185405511 MedGen:CN239310;MedGen:CN043596 14 73220874 73220874 A T 338758 single nucleotide variant NM_000021.3(PSEN1):c.*1585A>T 185405511 MedGen:CN239310;MedGen:CN043596 14 73687582 73687582 A T 338759 single nucleotide variant NM_000021.3(PSEN1):c.*2160C>T 886050674 MedGen:CN239310;MedGen:CN043596 14 73221449 73221449 C T 338759 single nucleotide variant NM_000021.3(PSEN1):c.*2160C>T 886050674 MedGen:CN239310;MedGen:CN043596 14 73688157 73688157 C T 338765 single nucleotide variant NM_000021.3(PSEN1):c.*2325A>G 546052493 MedGen:CN239310;MedGen:CN043596 14 73221614 73221614 A G 338765 single nucleotide variant NM_000021.3(PSEN1):c.*2325A>G 546052493 MedGen:CN239310;MedGen:CN043596 14 73688322 73688322 A G 338767 single nucleotide variant NM_000021.3(PSEN1):c.*2529G>T 574941431 MedGen:CN239310;MedGen:CN043596 14 73688526 73688526 G T 338767 single nucleotide variant NM_000021.3(PSEN1):c.*2529G>T 574941431 MedGen:CN239310;MedGen:CN043596 14 73221818 73221818 G T 338772 single nucleotide variant NM_000021.3(PSEN1):c.*2864A>C 362389 MedGen:CN239310;MedGen:CN043596 14 73688861 73688861 A C 338772 single nucleotide variant NM_000021.3(PSEN1):c.*2864A>C 362389 MedGen:CN239310;MedGen:CN043596 14 73222153 73222153 A C 338773 single nucleotide variant NM_000021.3(PSEN1):c.*2865C>A 886050679 MedGen:CN239310;MedGen:CN043596 14 73222154 73222154 C A 338773 single nucleotide variant NM_000021.3(PSEN1):c.*2865C>A 886050679 MedGen:CN239310;MedGen:CN043596 14 73688862 73688862 C A 338776 single nucleotide variant NM_000021.3(PSEN1):c.*3360A>G 362390 MedGen:CN239310;MedGen:CN043596 14 73689357 73689357 A G 338776 single nucleotide variant NM_000021.3(PSEN1):c.*3360A>G 362390 MedGen:CN239310;MedGen:CN043596 14 73222649 73222649 A G 338777 single nucleotide variant NM_000021.3(PSEN1):c.*3619A>G 886050681 MedGen:CN239310;MedGen:CN043596 14 73222908 73222908 A G 338777 single nucleotide variant NM_000021.3(PSEN1):c.*3619A>G 886050681 MedGen:CN239310;MedGen:CN043596 14 73689616 73689616 A G 338781 single nucleotide variant NM_000021.3(PSEN1):c.*4095A>G 369540718 MedGen:CN239310;MedGen:CN043596 14 73223384 73223384 A G 338781 single nucleotide variant NM_000021.3(PSEN1):c.*4095A>G 369540718 MedGen:CN239310;MedGen:CN043596 14 73690092 73690092 A G 353305 single nucleotide variant NM_000021.3(PSEN1):c.-296C>T 1800839 MedGen:CN239310;MedGen:CN043596 14 73603131 73603131 C T 353305 single nucleotide variant NM_000021.3(PSEN1):c.-296C>T 1800839 MedGen:CN239310;MedGen:CN043596 14 73136423 73136423 C T 360961 single nucleotide variant NM_000021.3(PSEN1):c.314T>G (p.Phe105Cys) 1057518919 Human Phenotype Ontology:HP:0000726,MedGen:CN000683;Human Phenotype Ontology:HP:0001268,MedGen:C1863063 14 73171023 73171023 T G 360961 single nucleotide variant NM_000021.3(PSEN1):c.314T>G (p.Phe105Cys) 1057518919 Human Phenotype Ontology:HP:0000726,MedGen:CN000683;Human Phenotype Ontology:HP:0001268,MedGen:C1863063 14 73637731 73637731 T G

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 14 73618080 rs17124867 A G rs17124867 5.82E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 14 73683194 rs177413 T C rs177413 4.76E-05 Telomere length HPOID:0000118 NA G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000080815.18 PSEN1 104311