| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.73170815_73170831dup | CA2146469616 | PSEN1 | c.106_122dup (p.Arg41SerfsTer?) c.94_110dup (p.Arg37SerfsTer?) c.-171_-155dup (n.-171_-155dup) n.503_519dup c.*50_*66dup (n.*50_*66dup) | dbSNP |
| 14 | g.73170821_73170894del | CA7256677 | PSEN1 | c.112_185del (p.His38GlyfsTer5) c.100_173del (p.His34GlyfsTer5) c.-165_-92del (n.-165_-92del) c.100_173del (p.His34=) c.*56_*129del (n.*56_*129del) | ExAC |
| 14 | g.73170827_73170829del | CA7256678 | PSEN1 | c.118_120del (p.Asp40del) c.106_108del (p.Asp36del) c.-159_-157del (n.-159_-157del) n.515_517del c.*62_*64del (n.*62_*64del) | ClinVar dbSNP ExAC gnomAD |
| 14 | g.73170828_73170834dup | CA615191109 | PSEN1 | c.119_125dup (p.Ser43GlnfsTer8) c.107_113dup (p.Ser39GlnfsTer8) c.-158_-152dup (n.-158_-152dup) n.516_522dup c.*63_*69dup (n.*63_*69dup) | dbSNP gnomAD |
| 14 | g.73170828A= | CA2146469627 | PSEN1 | c.119A= (p.Asp40=) c.107A= (p.Asp36=) c.-158A= (n.-158A=) n.516A= c.*63A= (n.*63A=) | |
| 14 | g.73170828A>C | CA390302540 | PSEN1 | c.119A>C (p.Asp40Ala) c.107A>C (p.Asp36Ala) c.-158A>C (n.-158A>C) n.516A>C c.*63A>C (n.*63A>C) | |
| 14 | g.73170828A>G | CA390302541 | PSEN1 | c.119A>G (p.Asp40Gly) c.107A>G (p.Asp36Gly) c.-158A>G (n.-158A>G) n.516A>G c.*63A>G (n.*63A>G) | |
| 14 | g.73170828A>T | CA390302542 | PSEN1 | c.119A>T (p.Asp40Val) c.107A>T (p.Asp36Val) c.-158A>T (n.-158A>T) n.516A>T c.*63A>T (n.*63A>T) | |
| 14 | g.73170828_73170833dup | CA2146469628 | PSEN1 | c.119_124dup (p.Arg41_Arg42insHisArg) c.107_112dup (p.Arg37_Arg38insHisArg) c.-158_-153dup (n.-158_-153dup) n.516_521dup c.*63_*68dup (n.*63_*68dup) | dbSNP |
| 14 | g.73170829C>A | CA390302543 | PSEN1 | c.120C>A (p.Asp40Glu) c.108C>A (p.Asp36Glu) c.-157C>A (n.-157C>A) n.517C>A c.*64C>A (n.*64C>A) | |
| 14 | g.73170829C= | CA2146469629 | PSEN1 | c.120C= (p.Asp40=) c.108C= (p.Asp36=) c.-157C= (n.-157C=) n.517C= c.*64C= (n.*64C=) | |
| 14 | g.73170829C>G | CA390302544 | PSEN1 | c.120C>G (p.Asp40Glu) c.108C>G (p.Asp36Glu) c.-157C>G (n.-157C>G) n.517C>G c.*64C>G (n.*64C>G) | |
| 14 | g.73170829C>T | CA487255432 | PSEN1 | c.120C>T (p.Asp40=) c.108C>T (p.Asp36=) c.-157C>T (n.-157C>T) n.517C>T c.*64C>T (n.*64C>T) | |
| 14 | g.73170830_73170831insCCTTGGCCA | CA708405983 | PSEN1 | c.121_122insCCTTGGCCA (p.Asp40_Arg41insThrLeuAla) c.109_110insCCTTGGCCA (p.Asp36_Arg37insThrLeuAla) c.-156_-155insCCTTGGCCA (n.-156_-155insCCTTGGCCA) n.518_519insCCTTGGCCA c.*65_*66insCCTTGGCCA (n.*65_*66insCCTTGGCCA) | dbSNP |
| 14 | g.73170830A= | CA2146469630 | PSEN1 | c.121A= (p.Arg41=) c.109A= (p.Arg37=) c.-156A= (n.-156A=) n.518A= c.*65A= (n.*65A=) | |
| 14 | g.73170830A>C | CA487255433 | PSEN1 | c.121A>C (p.Arg41=) c.109A>C (p.Arg37=) c.-156A>C (n.-156A>C) n.518A>C c.*65A>C (n.*65A>C) | gnomAD |
| 14 | g.73170830A>G | CA390302545 | PSEN1 | c.121A>G (p.Arg41Gly) c.109A>G (p.Arg37Gly) c.-156A>G (n.-156A>G) n.518A>G c.*65A>G (n.*65A>G) | gnomAD |
| 14 | g.73170830A>T | CA390302546 | PSEN1 | c.121A>T (p.Arg41Ter) c.109A>T (p.Arg37Ter) c.-156A>T (n.-156A>T) n.518A>T c.*65A>T (n.*65A>T) | |
| 14 | g.73170830_73170831insCCTT | CA7256681 | PSEN1 | c.121_122insCCTT (p.Arg41ThrfsTer9) c.109_110insCCTT (p.Arg37ThrfsTer9) c.-156_-155insCCTT (n.-156_-155insCCTT) n.518_519insCCTT c.*65_*66insCCTT (n.*65_*66insCCTT) | dbSNP ExAC gnomAD |
| 14 | g.73170831G>A | CA390302547 | PSEN1 | c.122G>A (p.Arg41Lys) c.110G>A (p.Arg37Lys) c.-155G>A (n.-155G>A) n.519G>A c.*66G>A (n.*66G>A) | |
| 14 | g.73170831G>C | CA262614369 | PSEN1 | c.122G>C (p.Arg41Thr) c.110G>C (p.Arg37Thr) c.-155G>C (n.-155G>C) n.519G>C c.*66G>C (n.*66G>C) | dbSNP |
| 14 | g.73170831G= | CA2146469631 | PSEN1 | c.122G= (p.Arg41=) c.110G= (p.Arg37=) c.-155G= (n.-155G=) n.519G= c.*66G= (n.*66G=) | |
| 14 | g.73170831G>T | CA390302548 | PSEN1 | c.122G>T (p.Arg41Ile) c.110G>T (p.Arg37Ile) c.-155G>T (n.-155G>T) n.519G>T c.*66G>T (n.*66G>T) | |
| 14 | g.73170831_73170837del | CA2575570838 | PSEN1 | c.122_128del (p.Arg41ThrfsTer?) c.110_116del (p.Arg37ThrfsTer?) c.-155_-149del (n.-155_-149del) n.519_525del c.*66_*72del (n.*66_*72del) | |
| 14 | g.73170831_73170832insGCC | CA7256682 | PSEN1 | c.122_123insGCC (p.Arg41_Arg42insPro) c.110_111insGCC (p.Arg37_Arg38insPro) c.-155_-154insGCC (n.-155_-154insGCC) n.519_520insGCC c.*66_*67insGCC (n.*66_*67insGCC) | dbSNP ExAC gnomAD |
| 14 | g.73170832A= | CA2146469632 | PSEN1 | c.123A= (p.Arg41=) c.111A= (p.Arg37=) c.-154A= (n.-154A=) n.520A= c.*67A= (n.*67A=) | |
| 14 | g.73170832A>C | CA262614373 | PSEN1 | c.123A>C (p.Arg41Ser) c.111A>C (p.Arg37Ser) c.-154A>C (n.-154A>C) n.520A>C c.*67A>C (n.*67A>C) | dbSNP |
| 14 | g.73170832A>G | CA487255438 | PSEN1 | c.123A>G (p.Arg41=) c.111A>G (p.Arg37=) c.-154A>G (n.-154A>G) n.520A>G c.*67A>G (n.*67A>G) | |
| 14 | g.73170832A>T | CA390302549 | PSEN1 | c.123A>T (p.Arg41Ser) c.111A>T (p.Arg37Ser) c.-154A>T (n.-154A>T) n.520A>T c.*67A>T (n.*67A>T) | ClinVar |
| 14 | g.73170833C>A | CA487255442 | PSEN1 | c.124C>A (p.Arg42=) c.112C>A (p.Arg38=) c.-153C>A (n.-153C>A) n.521C>A c.*68C>A (n.*68C>A) | |
| 14 | g.73170833C= | CA2146469633 | PSEN1 | c.124C= (p.Arg42=) c.112C= (p.Arg38=) c.-153C= (n.-153C=) n.521C= c.*68C= (n.*68C=) | |
| 14 | g.73170833C>G | CA7256685 | PSEN1 | c.124C>G (p.Arg42Gly) c.112C>G (p.Arg38Gly) c.-153C>G (n.-153C>G) n.521C>G c.*68C>G (n.*68C>G) | ClinVar dbSNP ExAC gnomAD |
| 14 | g.73170833C>T | CA7256684 | PSEN1 | c.124C>T (p.Arg42Trp) c.112C>T (p.Arg38Trp) c.-153C>T (n.-153C>T) n.521C>T c.*68C>T (n.*68C>T) | dbSNP ExAC gnomAD COSMIC COSMIC |
| 14 | g.73170833_73170834insCC | CA7256683 | PSEN1 | c.124_125insCC (p.Arg42ProfsTer?) c.112_113insCC (p.Arg38ProfsTer?) c.-153_-152insCC (n.-153_-152insCC) n.521_522insCC c.*68_*69insCC (n.*68_*69insCC) | dbSNP ExAC gnomAD |
| 14 | g.73170834G>A | CA7256686 | PSEN1 | c.125G>A (p.Arg42Gln) c.113G>A (p.Arg38Gln) c.-152G>A (n.-152G>A) n.522G>A c.*69G>A (n.*69G>A) | ClinVar dbSNP ExAC gnomAD |
| 14 | g.73170834G>C | CA390302550 | PSEN1 | c.125G>C (p.Arg42Pro) c.113G>C (p.Arg38Pro) c.-152G>C (n.-152G>C) n.522G>C c.*69G>C (n.*69G>C) | gnomAD |
| 14 | g.73170834G= | CA2146469634 | PSEN1 | c.125G= (p.Arg42=) c.113G= (p.Arg38=) c.-152G= (n.-152G=) n.522G= c.*69G= (n.*69G=) | |
| 14 | g.73170834G>T | CA7256687 | PSEN1 | c.125G>T (p.Arg42Leu) c.113G>T (p.Arg38Leu) c.-152G>T (n.-152G>T) n.522G>T c.*69G>T (n.*69G>T) | dbSNP ExAC gnomAD |
| 14 | g.73170835G>A | CA487255443 | PSEN1 | c.126G>A (p.Arg42=) c.114G>A (p.Arg38=) c.-151G>A (n.-151G>A) n.523G>A c.*70G>A (n.*70G>A) | |
| 14 | g.73170835G>C | CA487255444 | PSEN1 | c.126G>C (p.Arg42=) c.114G>C (p.Arg38=) c.-151G>C (n.-151G>C) n.523G>C c.*70G>C (n.*70G>C) | |
| 14 | g.73170835G>T | CA487255445 | PSEN1 | c.126G>T (p.Arg42=) c.114G>T (p.Arg38=) c.-151G>T (n.-151G>T) n.523G>T c.*70G>T (n.*70G>T) | |
| 14 | g.73170836A= | CA2146469635 | PSEN1 | c.127A= (p.Ser43=) c.115A= (p.Ser39=) c.-150A= (n.-150A=) n.524A= c.*71A= (n.*71A=) | |
| 14 | g.73170836A>C | CA390302551 | PSEN1 | c.127A>C (p.Ser43Arg) c.115A>C (p.Ser39Arg) c.-150A>C (n.-150A>C) n.524A>C c.*71A>C (n.*71A>C) | gnomAD |
| 14 | g.73170836A>G | CA390302552 | PSEN1 | c.127A>G (p.Ser43Gly) c.115A>G (p.Ser39Gly) c.-150A>G (n.-150A>G) n.524A>G c.*71A>G (n.*71A>G) | |
| 14 | g.73170836A>T | CA390302553 | PSEN1 | c.127A>T (p.Ser43Cys) c.115A>T (p.Ser39Cys) c.-150A>T (n.-150A>T) n.524A>T c.*71A>T (n.*71A>T) | |
| 14 | g.73170836_73170837insAA | CA2575570839 | PSEN1 | c.127_128insAA (p.Ser43LysfsTer?) c.115_116insAA (p.Ser39LysfsTer?) c.-150_-149insAA (n.-150_-149insAA) n.524_525insAA c.*71_*72insAA (n.*71_*72insAA) | |
| 14 | g.73170837G>A | CA390302554 | PSEN1 | c.128G>A (p.Ser43Asn) c.116G>A (p.Ser39Asn) c.-149G>A (n.-149G>A) n.525G>A c.*72G>A (n.*72G>A) | |
| 14 | g.73170837G>C | CA390302555 | PSEN1 | c.128G>C (p.Ser43Thr) c.116G>C (p.Ser39Thr) c.-149G>C (n.-149G>C) n.525G>C c.*72G>C (n.*72G>C) | |
| 14 | g.73170837G= | CA2146469636 | PSEN1 | c.128G= (p.Ser43=) c.116G= (p.Ser39=) c.-149G= (n.-149G=) n.525G= c.*72G= (n.*72G=) | |
| 14 | g.73170837G>T | CA390302556 | PSEN1 | c.128G>T (p.Ser43Ile) c.116G>T (p.Ser39Ile) c.-149G>T (n.-149G>T) n.525G>T c.*72G>T (n.*72G>T) |