| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.4699604_4699605delinsTG | CA2573157041 | PRNP | c.384_385delinsTG (p.Met129Val) c.*73_*74delinsTG (n.*73_*74delinsTG) | ClinVar |
| 20 | g.4699605A= | CA2347156522 | PRNP | c.385A= (p.Met129=) c.*74A= (n.*74A=) | |
| 20 | g.4699605A>C | CA408152235 | PRNP | c.385A>C (p.Met129Leu) c.*74A>C (n.*74A>C) | |
| 20 | g.4699605A>G | CA123088 | PRNP | c.385A>G (p.Met129Val) c.*74A>G (n.*74A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.[4699605A>G;4699752G>A] | CA034774 | PRNP | c.[385A>G;532G>A] (p.[Met129Val;Asp178Asn]) c.[*74A>G;*221G>A] (n.[*74A>G;*221G>A]) | ClinVar |
| 20 | g.4699605A>T | CA408152234 | PRNP | c.385A>T (p.Met129Leu) c.*74A>T (n.*74A>T) | |
| 20 | g.4699605_4699611delinsGTGCTGA | CA2695229269 | PRNP | c.385_391delinsGTGCTGA (p.Met129_Gly131delinsValLeuArg) c.*74_*80delinsGTGCTGA (n.*74_*80delinsGTGCTGA) | |
| 20 | g.4699606T>A | CA408152236 | PRNP | c.386T>A (p.Met129Lys) c.*75T>A (n.*75T>A) | |
| 20 | g.4699606T>C | CA9752063 | PRNP | c.386T>C (p.Met129Thr) c.*75T>C (n.*75T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699606T>G | CA408152237 | PRNP | c.386T>G (p.Met129Arg) c.*75T>G (n.*75T>G) | |
| 20 | g.4699606T= | CA2347156523 | PRNP | c.386T= (p.Met129=) c.*75T= (n.*75T=) | |
| 20 | g.4699607G>A | CA408152238 | PRNP | c.387G>A (p.Met129Ile) c.*76G>A (n.*76G>A) | gnomAD v4 |
| 20 | g.4699607G>C | CA408152239 | PRNP | c.387G>C (p.Met129Ile) c.*76G>C (n.*76G>C) | |
| 20 | g.4699607G>T | CA408152240 | PRNP | c.387G>T (p.Met129Ile) c.*76G>T (n.*76G>T) | |
| 20 | g.4699608C>A | CA408152241 | PRNP | c.388C>A (p.Leu130Met) c.*77C>A (n.*77C>A) | |
| 20 | g.4699608C>G | CA408152242 | PRNP | c.388C>G (p.Leu130Val) c.*77C>G (n.*77C>G) | |
| 20 | g.4699608C>T | CA509567676 | PRNP | c.388C>T (p.Leu130=) c.*77C>T (n.*77C>T) | |
| 20 | g.4699609T>A | CA408152243 | PRNP | c.389T>A (p.Leu130Gln) c.*78T>A (n.*78T>A) | |
| 20 | g.4699609T>C | CA408152244 | PRNP | c.389T>C (p.Leu130Pro) c.*78T>C (n.*78T>C) | gnomAD v4 |
| 20 | g.4699609T>G | CA408152245 | PRNP | c.389T>G (p.Leu130Arg) c.*78T>G (n.*78T>G) | |
| 20 | g.4699610G>A | CA509567677 | PRNP | c.390G>A (p.Leu130=) c.*79G>A (n.*79G>A) | dbSNP |
| 20 | g.4699610G>C | CA509567678 | PRNP | c.390G>C (p.Leu130=) c.*79G>C (n.*79G>C) | |
| 20 | g.4699610G= | CA2347156524 | PRNP | c.390G= (p.Leu130=) c.*79G= (n.*79G=) | |
| 20 | g.4699610G>T | CA509567679 | PRNP | c.390G>T (p.Leu130=) c.*79G>T (n.*79G>T) | gnomAD v4 |
| 20 | g.4699611G>A | CA311093355 | PRNP | c.391G>A (p.Gly131Arg) c.*80G>A (n.*80G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.4699611G>C | CA408152246 | PRNP | c.391G>C (p.Gly131Arg) c.*80G>C (n.*80G>C) | |
| 20 | g.4699611G= | CA2347156525 | PRNP | c.391G= (p.Gly131=) c.*80G= (n.*80G=) | |
| 20 | g.4699611G>T | CA9752064 | PRNP | c.391G>T (p.Gly131Ter) c.*80G>T (n.*80G>T) | dbSNP ExAC gnomAD v2 |
| 20 | g.4699612G>A | CA408152247 | PRNP | c.392G>A (p.Gly131Glu) c.*81G>A (n.*81G>A) | ClinVar dbSNP |
| 20 | g.4699612G>C | CA408152248 | PRNP | c.392G>C (p.Gly131Ala) c.*81G>C (n.*81G>C) | |
| 20 | g.4699612G= | CA2347156526 | PRNP | c.392G= (p.Gly131=) c.*81G= (n.*81G=) | |
| 20 | g.4699612G>T | CA256784 | PRNP | c.392G>T (p.Gly131Val) c.*81G>T (n.*81G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.4699613A= | CA2347156527 | PRNP | c.393A= (p.Gly131=) c.*82A= (n.*82A=) | |
| 20 | g.4699613A>C | CA509567683 | PRNP | c.393A>C (p.Gly131=) c.*82A>C (n.*82A>C) | |
| 20 | g.4699613A>G | CA9752065 | PRNP | c.393A>G (p.Gly131=) c.*82A>G (n.*82A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.4699613A>T | CA509567686 | PRNP | c.393A>T (p.Gly131=) c.*82A>T (n.*82A>T) | |
| 20 | g.4699614A>C | CA408152249 | PRNP | c.394A>C (p.Ser132Arg) c.*83A>C (n.*83A>C) | |
| 20 | g.4699614A>G | CA408152250 | PRNP | c.394A>G (p.Ser132Gly) c.*83A>G (n.*83A>G) | |
| 20 | g.4699614A>T | CA408152251 | PRNP | c.394A>T (p.Ser132Cys) c.*83A>T (n.*83A>T) | |
| 20 | g.4699615G>A | CA408152252 | PRNP | c.395G>A (p.Ser132Asn) c.*84G>A (n.*84G>A) | |
| 20 | g.4699615G>C | CA408152253 | PRNP | c.395G>C (p.Ser132Thr) c.*84G>C (n.*84G>C) | |
| 20 | g.4699615G>T | CA408152254 | PRNP | c.395G>T (p.Ser132Ile) c.*84G>T (n.*84G>T) | COSMIC |
| 20 | g.4699616T>A | CA408152255 | PRNP | c.396T>A (p.Ser132Arg) c.*85T>A (n.*85T>A) | |
| 20 | g.4699616T>C | CA9752066 | PRNP | c.396T>C (p.Ser132=) c.*85T>C (n.*85T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.4699616T>G | CA408152256 | PRNP | c.396T>G (p.Ser132Arg) c.*85T>G (n.*85T>G) | |
| 20 | g.4699616T= | CA2347156528 | PRNP | c.396T= (p.Ser132=) c.*85T= (n.*85T=) | |
| 20 | g.4699617G>A | CA408152259 | PRNP | c.397G>A (p.Ala133Thr) c.*86G>A (n.*86G>A) | |
| 20 | g.4699617G>C | CA408152258 | PRNP | c.397G>C (p.Ala133Pro) c.*86G>C (n.*86G>C) | |
| 20 | g.4699617G>T | CA408152257 | PRNP | c.397G>T (p.Ala133Ser) c.*86G>T (n.*86G>T) | |
| 20 | g.4699618C>A | CA408152261 | PRNP | c.398C>A (p.Ala133Asp) c.*87C>A (n.*87C>A) |