Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.4699632A= | CA2347156535 | PRNP | c.412A= (p.Ile138=) c.*101A= (n.*101A=) | |
20 | g.4699632A>C | CA408152288 | PRNP | c.412A>C (p.Ile138Leu) c.*101A>C (n.*101A>C) | dbSNP |
20 | g.4699632A>G | CA408152289 | PRNP | c.412A>G (p.Ile138Val) c.*101A>G (n.*101A>G) | |
20 | g.4699632A>T | CA408152290 | PRNP | c.412A>T (p.Ile138Phe) c.*101A>T (n.*101A>T) | |
20 | g.4699633T>A | CA408152291 | PRNP | c.413T>A (p.Ile138Asn) c.*102T>A (n.*102T>A) | |
20 | g.4699633T>C | CA9752069 | PRNP | c.413T>C (p.Ile138Thr) c.*102T>C (n.*102T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699633T>G | CA408152292 | PRNP | c.413T>G (p.Ile138Ser) c.*102T>G (n.*102T>G) | |
20 | g.4699633T= | CA2347156536 | PRNP | c.413T= (p.Ile138=) c.*102T= (n.*102T=) | |
20 | g.4699634C>A | CA311093374 | PRNP | c.414C>A (p.Ile138=) c.*103C>A (n.*103C>A) | dbSNP |
20 | g.4699634C= | CA2347156537 | PRNP | c.414C= (p.Ile138=) c.*103C= (n.*103C=) | |
20 | g.4699634C>G | CA311093376 | PRNP | c.414C>G (p.Ile138Met) c.*103C>G (n.*103C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699634C>T | CA509567714 | PRNP | c.414C>T (p.Ile138=) c.*103C>T (n.*103C>T) | |
20 | g.4699635A= | CA2347156538 | PRNP | c.415A= (p.Ile139=) c.*104A= (n.*104A=) | |
20 | g.4699635A>C | CA408152293 | PRNP | c.415A>C (p.Ile139Leu) c.*104A>C (n.*104A>C) | gnomAD v4 |
20 | g.4699635A>G | CA408152295 | PRNP | c.415A>G (p.Ile139Val) c.*104A>G (n.*104A>G) | ClinVar dbSNP gnomAD v4 |
20 | g.4699635A>T | CA408152294 | PRNP | c.415A>T (p.Ile139Leu) c.*104A>T (n.*104A>T) | |
20 | g.4699636T>A | CA408152296 | PRNP | c.416T>A (p.Ile139Lys) c.*105T>A (n.*105T>A) | |
20 | g.4699636T>C | CA408152297 | PRNP | c.416T>C (p.Ile139Thr) c.*105T>C (n.*105T>C) | gnomAD v4 |
20 | g.4699636T>G | CA408152298 | PRNP | c.416T>G (p.Ile139Arg) c.*105T>G (n.*105T>G) | |
20 | g.4699637A= | CA2347156539 | PRNP | c.417A= (p.Ile139=) c.*106A= (n.*106A=) | |
20 | g.4699637A>C | CA509567719 | PRNP | c.417A>C (p.Ile139=) c.*106A>C (n.*106A>C) | |
20 | g.4699637A>G | CA408152299 | PRNP | c.417A>G (p.Ile139Met) c.*106A>G (n.*106A>G) | |
20 | g.4699637A>T | CA509567718 | PRNP | c.417A>T (p.Ile139=) c.*106A>T (n.*106A>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699638C>A | CA408152300 | PRNP | c.418C>A (p.His140Asn) c.*107C>A (n.*107C>A) | |
20 | g.4699638C>G | CA408152302 | PRNP | c.418C>G (p.His140Asp) c.*107C>G (n.*107C>G) | |
20 | g.4699638C>T | CA408152301 | PRNP | c.418C>T (p.His140Tyr) c.*107C>T (n.*107C>T) | |
20 | g.4699639A= | CA2347156540 | PRNP | c.419A= (p.His140=) c.*108A= (n.*108A=) | |
20 | g.4699639A>C | CA408152303 | PRNP | c.419A>C (p.His140Pro) c.*108A>C (n.*108A>C) | |
20 | g.4699639A>G | CA311093378 | PRNP | c.419A>G (p.His140Arg) c.*108A>G (n.*108A>G) | dbSNP gnomAD v4 |
20 | g.4699639A>T | CA311093380 | PRNP | c.419A>T (p.His140Leu) c.*108A>T (n.*108A>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.4699640T>A | CA408152304 | PRNP | c.420T>A (p.His140Gln) c.*109T>A (n.*109T>A) | |
20 | g.4699640T>C | CA509567720 | PRNP | c.420T>C (p.His140=) c.*109T>C (n.*109T>C) | |
20 | g.4699640T>G | CA408152305 | PRNP | c.420T>G (p.His140Gln) c.*109T>G (n.*109T>G) | |
20 | g.4699641T>A | CA408152306 | PRNP | c.421T>A (p.Phe141Ile) c.*110T>A (n.*110T>A) | |
20 | g.4699641T>C | CA408152307 | PRNP | c.421T>C (p.Phe141Leu) c.*110T>C (n.*110T>C) | |
20 | g.4699641T>G | CA408152308 | PRNP | c.421T>G (p.Phe141Val) c.*110T>G (n.*110T>G) | |
20 | g.4699642T>A | CA408152309 | PRNP | c.422T>A (p.Phe141Tyr) c.*111T>A (n.*111T>A) | |
20 | g.4699642T>C | CA408152310 | PRNP | c.422T>C (p.Phe141Ser) c.*111T>C (n.*111T>C) | |
20 | g.4699642T>G | CA408152311 | PRNP | c.422T>G (p.Phe141Cys) c.*111T>G (n.*111T>G) | |
20 | g.4699643C>A | CA408152312 | PRNP | c.423C>A (p.Phe141Leu) c.*112C>A (n.*112C>A) | |
20 | g.4699643C= | CA2347156541 | PRNP | c.423C= (p.Phe141=) c.*112C= (n.*112C=) | |
20 | g.4699643C>G | CA408152313 | PRNP | c.423C>G (p.Phe141Leu) c.*112C>G (n.*112C>G) | |
20 | g.4699643C>T | CA9752070 | PRNP | c.423C>T (p.Phe141=) c.*112C>T (n.*112C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699644G>A | CA9752071 | PRNP | c.424G>A (p.Gly142Ser) c.*113G>A (n.*113G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699644G>C | CA408152315 | PRNP | c.424G>C (p.Gly142Arg) c.*113G>C (n.*113G>C) | |
20 | g.4699644G= | CA2347156542 | PRNP | c.424G= (p.Gly142=) c.*113G= (n.*113G=) | |
20 | g.4699644G>T | CA408152314 | PRNP | c.424G>T (p.Gly142Cys) c.*113G>T (n.*113G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699645G>A | CA408152316 | PRNP | c.425G>A (p.Gly142Asp) c.*114G>A (n.*114G>A) | gnomAD v4 |
20 | g.4699645G>C | CA408152318 | PRNP | c.425G>C (p.Gly142Ala) c.*114G>C (n.*114G>C) | |
20 | g.4699645G>T | CA408152317 | PRNP | c.425G>T (p.Gly142Val) c.*114G>T (n.*114G>T) |