Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.4699618C>A | CA408152261 | PRNP | c.398C>A (p.Ala133Asp) c.*87C>A (n.*87C>A) | |
20 | g.4699618C= | CA2347156529 | PRNP | c.398C= (p.Ala133=) c.*87C= (n.*87C=) | |
20 | g.4699618C>G | CA408152260 | PRNP | c.398C>G (p.Ala133Gly) c.*87C>G (n.*87C>G) | |
20 | g.4699618C>T | CA256786 | PRNP | c.398C>T (p.Ala133Val) c.*87C>T (n.*87C>T) | ClinVar dbSNP |
20 | g.4699619C>A | CA509567692 | PRNP | c.399C>A (p.Ala133=) c.*88C>A (n.*88C>A) | |
20 | g.4699619C>G | CA509567693 | PRNP | c.399C>G (p.Ala133=) c.*88C>G (n.*88C>G) | |
20 | g.4699619C>T | CA509567694 | PRNP | c.399C>T (p.Ala133=) c.*88C>T (n.*88C>T) | |
20 | g.4699620A>C | CA408152262 | PRNP | c.400A>C (p.Met134Leu) c.*89A>C (n.*89A>C) | gnomAD v4 |
20 | g.4699620A>G | CA408152263 | PRNP | c.400A>G (p.Met134Val) c.*89A>G (n.*89A>G) | gnomAD v4 |
20 | g.4699620A>T | CA408152264 | PRNP | c.400A>T (p.Met134Leu) c.*89A>T (n.*89A>T) | |
20 | g.4699621T>A | CA408152267 | PRNP | c.401T>A (p.Met134Lys) c.*90T>A (n.*90T>A) | |
20 | g.4699621T>C | CA408152266 | PRNP | c.401T>C (p.Met134Thr) c.*90T>C (n.*90T>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.4699621T>G | CA408152265 | PRNP | c.401T>G (p.Met134Arg) c.*90T>G (n.*90T>G) | gnomAD v4 |
20 | g.4699621T= | CA2347156530 | PRNP | c.401T= (p.Met134=) c.*90T= (n.*90T=) | |
20 | g.4699622G>A | CA408152268 | PRNP | c.402G>A (p.Met134Ile) c.*91G>A (n.*91G>A) | |
20 | g.4699622G>C | CA408152269 | PRNP | c.402G>C (p.Met134Ile) c.*91G>C (n.*91G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.4699622G= | CA2347156531 | PRNP | c.402G= (p.Met134=) c.*91G= (n.*91G=) | |
20 | g.4699622G>T | CA408152270 | PRNP | c.402G>T (p.Met134Ile) c.*91G>T (n.*91G>T) | |
20 | g.4699623A>C | CA408152271 | PRNP | c.403A>C (p.Ser135Arg) c.*92A>C (n.*92A>C) | |
20 | g.4699623A>G | CA408152272 | PRNP | c.403A>G (p.Ser135Gly) c.*92A>G (n.*92A>G) | |
20 | g.4699623A>T | CA408152273 | PRNP | c.403A>T (p.Ser135Cys) c.*92A>T (n.*92A>T) | |
20 | g.4699624G>A | CA408152276 | PRNP | c.404G>A (p.Ser135Asn) c.*93G>A (n.*93G>A) | |
20 | g.4699624G>C | CA408152274 | PRNP | c.404G>C (p.Ser135Thr) c.*93G>C (n.*93G>C) | |
20 | g.4699624G>T | CA408152275 | PRNP | c.404G>T (p.Ser135Ile) c.*93G>T (n.*93G>T) | |
20 | g.4699625C>A | CA408152277 | PRNP | c.405C>A (p.Ser135Arg) c.*94C>A (n.*94C>A) | |
20 | g.4699625C>G | CA408152278 | PRNP | c.405C>G (p.Ser135Arg) c.*94C>G (n.*94C>G) | |
20 | g.4699625C>T | CA509567698 | PRNP | c.405C>T (p.Ser135=) c.*94C>T (n.*94C>T) | |
20 | g.4699626A= | CA2347156532 | PRNP | c.406A= (p.Arg136=) c.*95A= (n.*95A=) | |
20 | g.4699626A>C | CA509567699 | PRNP | c.406A>C (p.Arg136=) c.*95A>C (n.*95A>C) | |
20 | g.4699626A>G | CA408152279 | PRNP | c.406A>G (p.Arg136Gly) c.*95A>G (n.*95A>G) | |
20 | g.4699626A>T | CA311093364 | PRNP | c.406A>T (p.Arg136Trp) c.*95A>T (n.*95A>T) | dbSNP |
20 | g.4699627G>A | CA311093366 | PRNP | c.407G>A (p.Arg136Lys) c.*96G>A (n.*96G>A) | dbSNP |
20 | g.4699627G>C | CA311093368 | PRNP | c.407G>C (p.Arg136Thr) c.*96G>C (n.*96G>C) | ClinVar dbSNP gnomAD v4 |
20 | g.4699627G= | CA2347156533 | PRNP | c.407G= (p.Arg136=) c.*96G= (n.*96G=) | |
20 | g.4699627G>T | CA408152280 | PRNP | c.407G>T (p.Arg136Met) c.*96G>T (n.*96G>T) | |
20 | g.4699628dup | CA2651785455 | PRNP | c.408dup (p.Pro137AlafsTer8) c.*97dup (n.*97dup) | gnomAD v4 |
20 | g.4699628G>A | CA9752068 | PRNP | c.408G>A (p.Arg136=) c.*97G>A (n.*97G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699628G>C | CA408152281 | PRNP | c.408G>C (p.Arg136Ser) c.*97G>C (n.*97G>C) | |
20 | g.4699628G= | CA2347156534 | PRNP | c.408G= (p.Arg136=) c.*97G= (n.*97G=) | |
20 | g.4699628G>T | CA9752067 | PRNP | c.408G>T (p.Arg136Ser) c.*97G>T (n.*97G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699629C>A | CA408152282 | PRNP | c.409C>A (p.Pro137Thr) c.*98C>A (n.*98C>A) | |
20 | g.4699629C>G | CA408152283 | PRNP | c.409C>G (p.Pro137Ala) c.*98C>G (n.*98C>G) | |
20 | g.4699629C>T | CA408152284 | PRNP | c.409C>T (p.Pro137Ser) c.*98C>T (n.*98C>T) | |
20 | g.4699630C>A | CA408152285 | PRNP | c.410C>A (p.Pro137His) c.*99C>A (n.*99C>A) | |
20 | g.4699630C>G | CA408152287 | PRNP | c.410C>G (p.Pro137Arg) c.*99C>G (n.*99C>G) | |
20 | g.4699630C>T | CA408152286 | PRNP | c.410C>T (p.Pro137Leu) c.*99C>T (n.*99C>T) | gnomAD v4 |
20 | g.4699631C>A | CA509567707 | PRNP | c.411C>A (p.Pro137=) c.*100C>A (n.*100C>A) | |
20 | g.4699631C>G | CA509567709 | PRNP | c.411C>G (p.Pro137=) c.*100C>G (n.*100C>G) | |
20 | g.4699631C>T | CA509567710 | PRNP | c.411C>T (p.Pro137=) c.*100C>T (n.*100C>T) | gnomAD v4 |
20 | g.4699632A= | CA2347156535 | PRNP | c.412A= (p.Ile138=) c.*101A= (n.*101A=) |