Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156054 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156053 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156061 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156058 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156059 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156057 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156056 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699398_4699399insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | CA920156055 | PRNP | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) c.89_90insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC (p.Ala30_Ser31insGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAlaGlyArgTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699379_4699427delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT | CA2347156413 | PRNP | c.159_207delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT (p.Gly53=) c.70_118delinsCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT (p.Arg24=) | |
20 | g.4699447_4699448insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA2580614990 | PRNP | c.227_228insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.138_139insTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | |
20 | g.4699447_4699448insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA915953085 | PRNP | c.227_228insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.138_139insTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | dbSNP |
20 | g.4699424_4699447dup | CA634331357 | PRNP | c.204_227dup (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnPro) c.115_138dup (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699400_4699447dup | CA634331358 | PRNP | c.180_227dup (p.Pro76_His77insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.91_138dup (p.Ala46_Pro47insSerTrpTrpTrpLeuGlyAlaAlaSerTrpTrpTrpLeuGlyAlaAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699424_4699447del | CA344807 | PRNP | c.204_227del (p.His69_Pro76del) c.115_138del (p.Ser39_Ala46del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699400_4699447del | CA634331356 | PRNP | c.180_227del (p.His61_Pro76del) c.91_138del (p.Ser31_Ala46del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699389T>A | CA408151762 | PRNP | c.169T>A (p.Trp57Arg) c.80T>A (p.Leu27Gln) | |
20 | g.4699389T>C | CA408151763 | PRNP | c.169T>C (p.Trp57Arg) c.80T>C (p.Leu27Pro) | |
20 | g.4699389T>G | CA408151764 | PRNP | c.169T>G (p.Trp57Gly) c.80T>G (p.Leu27Arg) | |
20 | g.4699390G>A | CA408151765 | PRNP | c.170G>A (p.Trp57Ter) c.81G>A (p.Leu27=) | |
20 | g.4699390G>C | CA408151766 | PRNP | c.170G>C (p.Trp57Ser) c.81G>C (p.Leu27=) | |
20 | g.4699390G>T | CA408151767 | PRNP | c.170G>T (p.Trp57Leu) c.81G>T (p.Leu27=) | |
20 | g.4699394del | CA2651785445 | PRNP | c.174del (p.Gln59SerfsTer?) c.85del (p.Ala29GlnfsTer?) | gnomAD v4 |
20 | g.4699391G>A | CA408151768 | PRNP | c.171G>A (p.Trp57Ter) c.82G>A (p.Gly28Arg) | dbSNP |
20 | g.4699391G>C | CA408151770 | PRNP | c.171G>C (p.Trp57Cys) c.82G>C (p.Gly28Arg) | |
20 | g.4699391G= | CA2347156419 | PRNP | c.171G= (p.Trp57=) c.82G= (p.Gly28=) | |
20 | g.4699391G>T | CA408151769 | PRNP | c.171G>T (p.Trp57Cys) c.82G>T (p.Gly28Trp) | |
20 | g.4699392G>A | CA408151771 | PRNP | c.172G>A (p.Gly58Arg) c.83G>A (p.Gly28Glu) | gnomAD v4 |
20 | g.4699392G>C | CA408151772 | PRNP | c.172G>C (p.Gly58Arg) c.83G>C (p.Gly28Ala) | |
20 | g.4699392G= | CA2347156420 | PRNP | c.172G= (p.Gly58=) c.83G= (p.Gly28=) | |
20 | g.4699392G>T | CA9752020 | PRNP | c.172G>T (p.Gly58Trp) c.83G>T (p.Gly28Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699393G>A | CA408151773 | PRNP | c.173G>A (p.Gly58Glu) c.84G>A (p.Gly28=) | |
20 | g.4699393G>C | CA408151774 | PRNP | c.173G>C (p.Gly58Ala) c.84G>C (p.Gly28=) | |
20 | g.4699393G>T | CA408151775 | PRNP | c.173G>T (p.Gly58Val) c.84G>T (p.Gly28=) | |
20 | g.4699394G>A | CA509567672 | PRNP | c.174G>A (p.Gly58=) c.85G>A (p.Ala29Thr) | dbSNP gnomAD v4 |
20 | g.4699394G>C | CA509567670 | PRNP | c.174G>C (p.Gly58=) c.85G>C (p.Ala29Pro) | |
20 | g.4699394G= | CA2347156421 | PRNP | c.174G= (p.Gly58=) c.85G= (p.Ala29=) | |
20 | g.4699394G>T | CA509567669 | PRNP | c.174G>T (p.Gly58=) c.85G>T (p.Ala29Ser) | dbSNP gnomAD v4 |
20 | g.4699395C>A | CA408151776 | PRNP | c.175C>A (p.Gln59Lys) c.86C>A (p.Ala29Glu) | dbSNP |
20 | g.4699395C= | CA2347156422 | PRNP | c.175C= (p.Gln59=) c.86C= (p.Ala29=) | |
20 | g.4699395C>G | CA408151777 | PRNP | c.175C>G (p.Gln59Glu) c.86C>G (p.Ala29Gly) | |
20 | g.4699395C>T | CA408151778 | PRNP | c.175C>T (p.Gln59Ter) c.86C>T (p.Ala29Val) | |
20 | g.4699423_4699424insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC | CA2815112094 | PRNP | c.203_204insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Pro68_His69insHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGlyGlnPro) c.114_115insCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGGCAGCC (p.Ala38_Ser39insProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGlyAlaAla) | |
20 | g.4699418_4699489del | CA2651785446 | PRNP | c.198_269del (p.Gln67_Gly90del) c.109_180del (p.Ala37_Gly60del) | gnomAD v4 |
20 | g.4699396del | CA2651785447 | PRNP | c.176del (p.Gln59ArgfsTer?) c.87del (p.Ala30ProfsTer?) | gnomAD v4 |
20 | g.4699396A>C | CA408151780 | PRNP | c.176A>C (p.Gln59Pro) c.87A>C (p.Ala29=) | |
20 | g.4699396A>G | CA408151781 | PRNP | c.176A>G (p.Gln59Arg) c.87A>G (p.Ala29=) | |
20 | g.4699396A>T | CA408151779 | PRNP | c.176A>T (p.Gln59Leu) c.87A>T (p.Ala29=) | |
20 | g.4699397G>A | CA509567675 | PRNP | c.177G>A (p.Gln59=) c.88G>A (p.Ala30Thr) | |
20 | g.4699397G>C | CA408151782 | PRNP | c.177G>C (p.Gln59His) c.88G>C (p.Ala30Pro) | |
20 | g.4699397G>T | CA408151783 | PRNP | c.177G>T (p.Gln59His) c.88G>T (p.Ala30Ser) | |
20 | g.4699398C>A | CA408151784 | PRNP | c.178C>A (p.Pro60Thr) c.89C>A (p.Ala30Asp) | gnomAD v4 |
20 | g.4699398C>G | CA408151785 | PRNP | c.178C>G (p.Pro60Ala) c.89C>G (p.Ala30Gly) | |
20 | g.4699398C>T | CA408151786 | PRNP | c.178C>T (p.Pro60Ser) c.89C>T (p.Ala30Val) | |
20 | g.4699399C>A | CA408151787 | PRNP | c.179C>A (p.Pro60His) c.90C>A (p.Ala30=) | |
20 | g.4699399C= | CA2347156423 | PRNP | c.179C= (p.Pro60=) c.90C= (p.Ala30=) | |
20 | g.4699399C>G | CA408151788 | PRNP | c.179C>G (p.Pro60Arg) c.90C>G (p.Ala30=) | |
20 | g.4699399C>T | CA9752021 | PRNP | c.179C>T (p.Pro60Leu) c.90C>T (p.Ala30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699400T>A | CA509567682 | PRNP | c.180T>A (p.Pro60=) c.91T>A (p.Ser31Thr) | |
20 | g.4699400T>C | CA509567684 | PRNP | c.180T>C (p.Pro60=) c.91T>C (p.Ser31Pro) | ClinVar dbSNP gnomAD v4 |
20 | g.4699400T>G | CA509567685 | PRNP | c.180T>G (p.Pro60=) c.91T>G (p.Ser31Ala) | |
20 | g.4699400T= | CA2347156425 | PRNP | c.180T= (p.Pro60=) c.91T= (p.Ser31=) | |
20 | g.4699400_4699448delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC | CA2347156424 | PRNP | c.180_228delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC (p.Pro60=) c.91_139delinsTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCC (p.Ser31=) | |
20 | g.4699401C>A | CA408151789 | PRNP | c.181C>A (p.His61Asn) c.92C>A (p.Ser31Ter) | |
20 | g.4699401C>G | CA408151790 | PRNP | c.181C>G (p.His61Asp) c.92C>G (p.Ser31Ter) | |
20 | g.4699401C>T | CA408151791 | PRNP | c.181C>T (p.His61Tyr) c.92C>T (p.Ser31Leu) | |
20 | g.4699418_4699465dup | CA1014957580 | PRNP | c.198_245dup (p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.109_156dup (p.Gly52_Thr53insAlaAlaSerTrpTrpTrpLeuGlyAlaAlaProTrpTrpTrpLeuGly) | gnomAD v3 gnomAD v4 |
20 | g.4699418_4699465del | CA9752022 | PRNP | c.198_245del (p.Gln67_Gly82del) c.109_156del (p.Ala37_Gly52del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699402A= | CA2347156426 | PRNP | c.182A= (p.His61=) c.93A= (p.Ser31=) | |
20 | g.4699402A>C | CA408151792 | PRNP | c.182A>C (p.His61Pro) c.93A>C (p.Ser31=) | |
20 | g.4699402A>G | CA408151793 | PRNP | c.182A>G (p.His61Arg) c.93A>G (p.Ser31=) | gnomAD v4 |
20 | g.4699402A>T | CA408151794 | PRNP | c.182A>T (p.His61Leu) c.93A>T (p.Ser31=) | dbSNP |
20 | g.4699402_4699404del | CA2651785448 | PRNP | c.182_184del (p.His61_Gly62delinsArg) c.93_95del (p.Trp32del) | gnomAD v4 |
20 | g.4699403T>A | CA408151795 | PRNP | c.183T>A (p.His61Gln) c.94T>A (p.Trp32Arg) | |
20 | g.4699403T>C | CA509567690 | PRNP | c.183T>C (p.His61=) c.94T>C (p.Trp32Arg) | |
20 | g.4699403T>G | CA408151796 | PRNP | c.183T>G (p.His61Gln) c.94T>G (p.Trp32Gly) | |
20 | g.4699404G>A | CA408151797 | PRNP | c.184G>A (p.Gly62Ser) c.95G>A (p.Trp32Ter) | dbSNP gnomAD v4 |
20 | g.4699404G>C | CA408151798 | PRNP | c.184G>C (p.Gly62Arg) c.95G>C (p.Trp32Ser) | |
20 | g.4699404G= | CA2347156427 | PRNP | c.184G= (p.Gly62=) c.95G= (p.Trp32=) | |
20 | g.4699404G>T | CA408151799 | PRNP | c.184G>T (p.Gly62Cys) c.95G>T (p.Trp32Leu) | |
20 | g.4699405G>A | CA408151800 | PRNP | c.185G>A (p.Gly62Asp) c.96G>A (p.Trp32Ter) | |
20 | g.4699405G>C | CA408151801 | PRNP | c.185G>C (p.Gly62Ala) c.96G>C (p.Trp32Cys) | |
20 | g.4699405G>T | CA408151802 | PRNP | c.185G>T (p.Gly62Val) c.96G>T (p.Trp32Cys) | gnomAD v4 |
20 | g.4699406T>A | CA509567695 | PRNP | c.186T>A (p.Gly62=) c.97T>A (p.Trp33Arg) | |
20 | g.4699406T>C | CA509567696 | PRNP | c.186T>C (p.Gly62=) c.97T>C (p.Trp33Arg) | |
20 | g.4699406T>G | CA509567697 | PRNP | c.186T>G (p.Gly62=) c.97T>G (p.Trp33Gly) | |
20 | g.4699407G>A | CA408151803 | PRNP | c.187G>A (p.Gly63Ser) c.98G>A (p.Trp33Ter) | dbSNP gnomAD v4 |
20 | g.4699407G>C | CA408151804 | PRNP | c.187G>C (p.Gly63Arg) c.98G>C (p.Trp33Ser) | |
20 | g.4699407G= | CA2347156428 | PRNP | c.187G= (p.Gly63=) c.98G= (p.Trp33=) | |
20 | g.4699407G>T | CA408151805 | PRNP | c.187G>T (p.Gly63Cys) c.98G>T (p.Trp33Leu) | |
20 | g.4699408del | CA2577330163 | PRNP | c.188del (p.Gly63ValfsTer?) c.99del (p.Trp33CysfsTer?) | |
20 | g.4699408G>A | CA408151806 | PRNP | c.188G>A (p.Gly63Asp) c.99G>A (p.Trp33Ter) | |
20 | g.4699408G>C | CA408151807 | PRNP | c.188G>C (p.Gly63Ala) c.99G>C (p.Trp33Cys) | |
20 | g.4699408G>T | CA408151808 | PRNP | c.188G>T (p.Gly63Val) c.99G>T (p.Trp33Cys) | gnomAD v4 |
20 | g.4699409T>A | CA9752023 | PRNP | c.189T>A (p.Gly63=) c.100T>A (p.Trp34Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699409T>C | CA509567700 | PRNP | c.189T>C (p.Gly63=) c.100T>C (p.Trp34Arg) | |
20 | g.4699409T>G | CA509567701 | PRNP | c.189T>G (p.Gly63=) c.100T>G (p.Trp34Gly) | |
20 | g.4699409T= | CA2347156429 | PRNP | c.189T= (p.Gly63=) c.100T= (p.Trp34=) | |
20 | g.4699410G>A | CA408151811 | PRNP | c.190G>A (p.Gly64Ser) c.101G>A (p.Trp34Ter) | |
20 | g.4699410G>C | CA408151810 | PRNP | c.190G>C (p.Gly64Arg) c.101G>C (p.Trp34Ser) | |
20 | g.4699410G>T | CA408151809 | PRNP | c.190G>T (p.Gly64Cys) c.101G>T (p.Trp34Leu) | |
20 | g.4699411G>A | CA408151814 | PRNP | c.191G>A (p.Gly64Asp) c.102G>A (p.Trp34Ter) | |
20 | g.4699411G>C | CA408151813 | PRNP | c.191G>C (p.Gly64Ala) c.102G>C (p.Trp34Cys) | |
20 | g.4699411G>T | CA408151812 | PRNP | c.191G>T (p.Gly64Val) c.102G>T (p.Trp34Cys) | |
20 | g.4699412C>A | CA509567705 | PRNP | c.192C>A (p.Gly64=) c.103C>A (p.Leu35Met) | |
20 | g.4699412C>G | CA509567706 | PRNP | c.192C>G (p.Gly64=) c.103C>G (p.Leu35Val) | |
20 | g.4699412C>T | CA509567708 | PRNP | c.192C>T (p.Gly64=) c.103C>T (p.Leu35=) | |
20 | g.4699413T>A | CA408151815 | PRNP | c.193T>A (p.Trp65Arg) c.104T>A (p.Leu35Gln) | |
20 | g.4699413T>C | CA408151816 | PRNP | c.193T>C (p.Trp65Arg) c.104T>C (p.Leu35Pro) | |
20 | g.4699413T>G | CA408151817 | PRNP | c.193T>G (p.Trp65Gly) c.104T>G (p.Leu35Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699413T= | CA2347156430 | PRNP | c.193T= (p.Trp65=) c.104T= (p.Leu35=) | |
20 | g.4699414G>A | CA408151818 | PRNP | c.194G>A (p.Trp65Ter) c.105G>A (p.Leu35=) | |
20 | g.4699414G>C | CA408151819 | PRNP | c.194G>C (p.Trp65Ser) c.105G>C (p.Leu35=) | |
20 | g.4699414G>T | CA408151820 | PRNP | c.194G>T (p.Trp65Leu) c.105G>T (p.Leu35=) | |
20 | g.4699418dup | CA2832574535 | PRNP | c.198dup (p.Gln67AlafsTer?) c.109dup (p.Ala37GlyfsTer?) | |
20 | g.4699418del | CA645600593 | PRNP | c.198del (p.Gln67SerfsTer?) c.109del (p.Ala37GlnfsTer?) | COSMIC |
20 | g.4699415G>A | CA408151821 | PRNP | c.195G>A (p.Trp65Ter) c.106G>A (p.Gly36Arg) | dbSNP |
20 | g.4699415G>C | CA408151822 | PRNP | c.195G>C (p.Trp65Cys) c.106G>C (p.Gly36Arg) | |
20 | g.4699415G= | CA2347156431 | PRNP | c.195G= (p.Trp65=) c.106G= (p.Gly36=) | |
20 | g.4699415G>T | CA408151823 | PRNP | c.195G>T (p.Trp65Cys) c.106G>T (p.Gly36Trp) | |
20 | g.4699416G>A | CA408151824 | PRNP | c.196G>A (p.Gly66Arg) c.107G>A (p.Gly36Glu) | |
20 | g.4699416G>C | CA408151825 | PRNP | c.196G>C (p.Gly66Arg) c.107G>C (p.Gly36Ala) | |
20 | g.4699416G>T | CA408151826 | PRNP | c.196G>T (p.Gly66Trp) c.107G>T (p.Gly36Val) | |
20 | g.4699417G>A | CA408151827 | PRNP | c.197G>A (p.Gly66Glu) c.108G>A (p.Gly36=) | |
20 | g.4699417G>C | CA408151829 | PRNP | c.197G>C (p.Gly66Ala) c.108G>C (p.Gly36=) | |
20 | g.4699417G>T | CA408151828 | PRNP | c.197G>T (p.Gly66Val) c.108G>T (p.Gly36=) | |
20 | g.4699418G>A | CA9752025 | PRNP | c.198G>A (p.Gly66=) c.109G>A (p.Ala37Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699418G>C | CA509567722 | PRNP | c.198G>C (p.Gly66=) c.109G>C (p.Ala37Pro) | |
20 | g.4699418G= | CA2347156432 | PRNP | c.198G= (p.Gly66=) c.109G= (p.Ala37=) | |
20 | g.4699418G>T | CA509567723 | PRNP | c.198G>T (p.Gly66=) c.109G>T (p.Ala37Ser) | |
20 | g.4699418_4699466delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA | CA2347156433 | PRNP | c.198_246delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA (p.Gly66=) c.109_157delinsGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA (p.Ala37=) | |
20 | g.4699419C>A | CA408151830 | PRNP | c.199C>A (p.Gln67Lys) c.110C>A (p.Ala37Glu) | dbSNP gnomAD v4 |
20 | g.4699419C= | CA2347156434 | PRNP | c.199C= (p.Gln67=) c.110C= (p.Ala37=) | |
20 | g.4699419C>G | CA408151831 | PRNP | c.199C>G (p.Gln67Glu) c.110C>G (p.Ala37Gly) | |
20 | g.4699419C>T | CA408151832 | PRNP | c.199C>T (p.Gln67Ter) c.110C>T (p.Ala37Val) | |
20 | g.4699441_4699442insACAGCCTCATGGTGGTGGCTGGGG | CA2651785449 | PRNP | c.221_222insACAGCCTCATGGTGGTGGCTGGGG (p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGly) c.132_133insACAGCCTCATGGTGGTGGCTGGGG (p.Gly44_Ala45insThrAlaSerTrpTrpTrpLeuGly) | gnomAD v4 |
20 | g.4699441_4699442insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG | CA634331359 | PRNP | c.221_222insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG (p.Gly74_Gln75insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.132_133insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG (p.Gly44_Ala45insThrAlaSerTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699442_4699489dup | CA1014957589 | PRNP | c.222_269dup (p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.133_180dup (p.Gly60_Ser61insAlaAlaProTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGly) | gnomAD v3 gnomAD v4 |
20 | g.4699442_4699489del | CA9752024 | PRNP | c.222_269del (p.Gln75_Gly90del) c.133_180del (p.Ala45_Gly60del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699420A>C | CA408151833 | PRNP | c.200A>C (p.Gln67Pro) c.111A>C (p.Ala37=) | |
20 | g.4699420A>G | CA408151834 | PRNP | c.200A>G (p.Gln67Arg) c.111A>G (p.Ala37=) | |
20 | g.4699420A>T | CA408151835 | PRNP | c.200A>T (p.Gln67Leu) c.111A>T (p.Ala37=) | |
20 | g.4699421G>A | CA509567724 | PRNP | c.201G>A (p.Gln67=) c.112G>A (p.Ala38Thr) | |
20 | g.4699421G>C | CA408151836 | PRNP | c.201G>C (p.Gln67His) c.112G>C (p.Ala38Pro) | |
20 | g.4699421G>T | CA408151837 | PRNP | c.201G>T (p.Gln67His) c.112G>T (p.Ala38Ser) | |
20 | g.4699422C>A | CA408151839 | PRNP | c.202C>A (p.Pro68Thr) c.113C>A (p.Ala38Asp) | |
20 | g.4699422C>G | CA408151838 | PRNP | c.202C>G (p.Pro68Ala) c.113C>G (p.Ala38Gly) | |
20 | g.4699422C>T | CA408151840 | PRNP | c.202C>T (p.Pro68Ser) c.113C>T (p.Ala38Val) | |
20 | g.4699423C>A | CA408151841 | PRNP | c.203C>A (p.Pro68His) c.114C>A (p.Ala38=) | |
20 | g.4699423C= | CA2347156436 | PRNP | c.203C= (p.Pro68=) c.114C= (p.Ala38=) | |
20 | g.4699423C>G | CA408151842 | PRNP | c.203C>G (p.Pro68Arg) c.114C>G (p.Ala38=) | |
20 | g.4699423C>T | CA408151843 | PRNP | c.203C>T (p.Pro68Leu) c.114C>T (p.Ala38=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699423_4699424delinsCT | CA2347156435 | PRNP | c.203_204delinsCT (p.Pro68=) c.114_115delinsCT (p.Ala38=) | |
20 | g.4699423_4699424insCCA | CA2815112095 | PRNP | c.203_204insCCA (p.Pro68_His69insHis) c.114_115insCCA (p.Ala38_Ser39insPro) | |
20 | g.4699424del | CA634331360 | PRNP | c.204del (p.His69MetfsTer?) c.115del (p.Ser39HisfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699424T>A | CA509567728 | PRNP | c.204T>A (p.Pro68=) c.115T>A (p.Ser39Thr) | |
20 | g.4699424T>C | CA9752026 | PRNP | c.204T>C (p.Pro68=) c.115T>C (p.Ser39Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699424T>G | CA509567730 | PRNP | c.204T>G (p.Pro68=) c.115T>G (p.Ser39Ala) | |
20 | g.4699424T= | CA2347156438 | PRNP | c.204T= (p.Pro68=) c.115T= (p.Ser39=) | |
20 | g.4699424_4699448delinsTCATGGTGGTGGCTGGGGGCAGCCC | CA2347156437 | PRNP | c.204_228delinsTCATGGTGGTGGCTGGGGGCAGCCC (p.Pro68=) c.115_139delinsTCATGGTGGTGGCTGGGGGCAGCCC (p.Ser39=) | |
20 | g.4699424_4699425insGGTGGTGGCTGGGGGCAGCCC | CA2815112096 | PRNP | c.204_205insGGTGGTGGCTGGGGGCAGCCC (p.Pro68_His69insGlyGlyGlyTrpGlyGlnPro) c.115_116insGGTGGTGGCTGGGGGCAGCCC (p.Ser39delinsTrpTrpTrpLeuGlyAlaAlaPro) | |
20 | g.4699425C>A | CA408151844 | PRNP | c.205C>A (p.His69Asn) c.116C>A (p.Ser39Ter) | |
20 | g.4699425C= | CA2347156441 | PRNP | c.205C= (p.His69=) c.116C= (p.Ser39=) | |
20 | g.4699425C>G | CA408151845 | PRNP | c.205C>G (p.His69Asp) c.116C>G (p.Ser39Ter) | |
20 | g.4699425C>T | CA408151846 | PRNP | c.205C>T (p.His69Tyr) c.116C>T (p.Ser39Leu) | dbSNP gnomAD v4 |
20 | g.4699425_4699428delinsCATG | CA2347156439 | PRNP | c.205_208delinsCATG (p.His69=) c.116_119delinsCATG (p.Ser39=) | |
20 | g.4699442_4699465dup | CA9752027 | PRNP | c.222_245dup (p.Gly82_Gln83insGlnProHisGlyGlyGlyTrpGly) c.133_156dup (p.Gly52_Thr53insAlaAlaProTrpTrpTrpLeuGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699442_4699465del | CA9752028 | PRNP | c.222_245del (p.Gln75_Gly82del) c.133_156del (p.Ala45_Gly52del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699425_4699472delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT | CA2347156440 | PRNP | c.205_252delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT (p.His69=) c.116_163delinsCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCT (p.Ser39=) | |
20 | g.4699426A= | CA2347156442 | PRNP | c.206A= (p.His69=) c.117A= (p.Ser39=) | |
20 | g.4699426A>C | CA408151847 | PRNP | c.206A>C (p.His69Pro) c.117A>C (p.Ser39=) | |
20 | g.4699426A>G | CA408151848 | PRNP | c.206A>G (p.His69Arg) c.117A>G (p.Ser39=) | dbSNP gnomAD v2 |
20 | g.4699426A>T | CA408151849 | PRNP | c.206A>T (p.His69Leu) c.117A>T (p.Ser39=) | ClinVar |
20 | g.4699426_4699428del | CA9752029 | PRNP | c.206_208del (p.His69_Gly70delinsArg) c.117_119del (p.Trp40del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699426_4699472del | CA634331320 | PRNP | c.206_252del (p.His69ProfsTer20) c.117_163del (p.Trp40MetfsTer25) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699427T>A | CA408151850 | PRNP | c.207T>A (p.His69Gln) c.118T>A (p.Trp40Arg) | dbSNP |
20 | g.4699427T>C | CA509567174 | PRNP | c.207T>C (p.His69=) c.118T>C (p.Trp40Arg) | |
20 | g.4699427T>G | CA408151851 | PRNP | c.207T>G (p.His69Gln) c.118T>G (p.Trp40Gly) | |
20 | g.4699427T= | CA2347156443 | PRNP | c.207T= (p.His69=) c.118T= (p.Trp40=) | |
20 | g.4699428G>A | CA408151852 | PRNP | c.208G>A (p.Gly70Ser) c.119G>A (p.Trp40Ter) | dbSNP |
20 | g.4699428G>C | CA408151853 | PRNP | c.208G>C (p.Gly70Arg) c.119G>C (p.Trp40Ser) | |
20 | g.4699428G= | CA2347156444 | PRNP | c.208G= (p.Gly70=) c.119G= (p.Trp40=) | |
20 | g.4699428G>T | CA408151854 | PRNP | c.208G>T (p.Gly70Cys) c.119G>T (p.Trp40Leu) | |
20 | g.4699429G>A | CA408151855 | PRNP | c.209G>A (p.Gly70Asp) c.120G>A (p.Trp40Ter) | |
20 | g.4699429G>C | CA408151856 | PRNP | c.209G>C (p.Gly70Ala) c.120G>C (p.Trp40Cys) | |
20 | g.4699429G>T | CA408151857 | PRNP | c.209G>T (p.Gly70Val) c.120G>T (p.Trp40Cys) | |
20 | g.4699430T>A | CA509567176 | PRNP | c.210T>A (p.Gly70=) c.121T>A (p.Trp41Arg) | |
20 | g.4699430T>C | CA509567177 | PRNP | c.210T>C (p.Gly70=) c.121T>C (p.Trp41Arg) | |
20 | g.4699430T>G | CA509567179 | PRNP | c.210T>G (p.Gly70=) c.121T>G (p.Trp41Gly) | |
20 | g.4699431G>A | CA9752030 | PRNP | c.211G>A (p.Gly71Ser) c.122G>A (p.Trp41Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699431G>C | CA408151858 | PRNP | c.211G>C (p.Gly71Arg) c.122G>C (p.Trp41Ser) | |
20 | g.4699431G= | CA2347156445 | PRNP | c.211G= (p.Gly71=) c.122G= (p.Trp41=) | |
20 | g.4699431G>T | CA408151859 | PRNP | c.211G>T (p.Gly71Cys) c.122G>T (p.Trp41Leu) | |
20 | g.4699432G>A | CA408151860 | PRNP | c.212G>A (p.Gly71Asp) c.123G>A (p.Trp41Ter) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699432G>C | CA408151861 | PRNP | c.212G>C (p.Gly71Ala) c.123G>C (p.Trp41Cys) | |
20 | g.4699432G= | CA2347156446 | PRNP | c.212G= (p.Gly71=) c.123G= (p.Trp41=) | |
20 | g.4699432G>T | CA408151862 | PRNP | c.212G>T (p.Gly71Val) c.123G>T (p.Trp41Cys) | |
20 | g.4699433T>A | CA509567183 | PRNP | c.213T>A (p.Gly71=) c.124T>A (p.Trp42Arg) | gnomAD v4 |
20 | g.4699433T>C | CA509567185 | PRNP | c.213T>C (p.Gly71=) c.124T>C (p.Trp42Arg) | |
20 | g.4699433T>G | CA509567187 | PRNP | c.213T>G (p.Gly71=) c.124T>G (p.Trp42Gly) | |
20 | g.4699434G>A | CA408151865 | PRNP | c.214G>A (p.Gly72Ser) c.125G>A (p.Trp42Ter) | dbSNP gnomAD v4 |
20 | g.4699434G>C | CA408151863 | PRNP | c.214G>C (p.Gly72Arg) c.125G>C (p.Trp42Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.4699434G= | CA2347156447 | PRNP | c.214G= (p.Gly72=) c.125G= (p.Trp42=) | |
20 | g.4699434G>T | CA408151864 | PRNP | c.214G>T (p.Gly72Cys) c.125G>T (p.Trp42Leu) | dbSNP gnomAD v2 |
20 | g.4699435G>A | CA408151866 | PRNP | c.215G>A (p.Gly72Asp) c.126G>A (p.Trp42Ter) | |
20 | g.4699435G>C | CA408151868 | PRNP | c.215G>C (p.Gly72Ala) c.126G>C (p.Trp42Cys) | |
20 | g.4699435G>T | CA408151867 | PRNP | c.215G>T (p.Gly72Val) c.126G>T (p.Trp42Cys) | |
20 | g.4699436C>A | CA509567189 | PRNP | c.216C>A (p.Gly72=) c.127C>A (p.Leu43Met) | |
20 | g.4699436C= | CA2347156448 | PRNP | c.216C= (p.Gly72=) c.127C= (p.Leu43=) | |
20 | g.4699436C>G | CA509567191 | PRNP | c.216C>G (p.Gly72=) c.127C>G (p.Leu43Val) | |
20 | g.4699436C>T | CA509567193 | PRNP | c.216C>T (p.Gly72=) c.127C>T (p.Leu43=) | dbSNP |
20 | g.4699437T>A | CA408151869 | PRNP | c.217T>A (p.Trp73Arg) c.128T>A (p.Leu43Gln) | |
20 | g.4699437T>C | CA408151870 | PRNP | c.217T>C (p.Trp73Arg) c.128T>C (p.Leu43Pro) | |
20 | g.4699437T>G | CA408151871 | PRNP | c.217T>G (p.Trp73Gly) c.128T>G (p.Leu43Arg) | gnomAD v4 |
20 | g.4699437_4699438delinsTG | CA2347156449 | PRNP | c.217_218delinsTG (p.Trp73=) c.128_129delinsTG (p.Leu43=) | |
20 | g.4699438G>A | CA408151872 | PRNP | c.218G>A (p.Trp73Ter) c.129G>A (p.Leu43=) | gnomAD v4 |
20 | g.4699438G>C | CA408151873 | PRNP | c.218G>C (p.Trp73Ser) c.129G>C (p.Leu43=) | dbSNP |
20 | g.4699438G= | CA2347156450 | PRNP | c.218G= (p.Trp73=) c.129G= (p.Leu43=) | |
20 | g.4699438G>T | CA408151874 | PRNP | c.218G>T (p.Trp73Leu) c.129G>T (p.Leu43=) | |
20 | g.4699442dup | CA2832574536 | PRNP | c.222dup (p.Gln75AlafsTer30) c.133dup (p.Ala45GlyfsTer?) | |
20 | g.4699442del | CA1014957614 | PRNP | c.222del (p.Gln75SerfsTer?) c.133del (p.Ala45GlnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.4699439G>A | CA408151875 | PRNP | c.219G>A (p.Trp73Ter) c.130G>A (p.Gly44Arg) | |
20 | g.4699439G>C | CA311093255 | PRNP | c.219G>C (p.Trp73Cys) c.130G>C (p.Gly44Arg) | dbSNP |
20 | g.4699439G= | CA2347156451 | PRNP | c.219G= (p.Trp73=) c.130G= (p.Gly44=) | |
20 | g.4699439G>T | CA408151876 | PRNP | c.219G>T (p.Trp73Cys) c.130G>T (p.Gly44Trp) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699440G>A | CA408151877 | PRNP | c.220G>A (p.Gly74Arg) c.131G>A (p.Gly44Glu) | |
20 | g.4699440G>C | CA408151878 | PRNP | c.220G>C (p.Gly74Arg) c.131G>C (p.Gly44Ala) | |
20 | g.4699440G= | CA2347156452 | PRNP | c.220G= (p.Gly74=) c.131G= (p.Gly44=) | |
20 | g.4699440G>T | CA408151879 | PRNP | c.220G>T (p.Gly74Trp) c.131G>T (p.Gly44Val) | dbSNP gnomAD v2 |
20 | g.4699441G>A | CA408151882 | PRNP | c.221G>A (p.Gly74Glu) c.132G>A (p.Gly44=) | |
20 | g.4699441G>C | CA408151880 | PRNP | c.221G>C (p.Gly74Ala) c.132G>C (p.Gly44=) | |
20 | g.4699441G>T | CA408151881 | PRNP | c.221G>T (p.Gly74Val) c.132G>T (p.Gly44=) | |
20 | g.4699441_4699444delinsGGCA | CA2347156453 | PRNP | c.221_224delinsGGCA (p.Gly74=) c.132_135delinsGGCA (p.Gly44=) | |
20 | g.4699442G>A | CA9752032 | PRNP | c.222G>A (p.Gly74=) c.133G>A (p.Ala45Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.4699442G>C | CA509567197 | PRNP | c.222G>C (p.Gly74=) c.133G>C (p.Ala45Pro) | |
20 | g.4699442G= | CA2347156454 | PRNP | c.222G= (p.Gly74=) c.133G= (p.Ala45=) | |
20 | g.4699442G>T | CA509567199 | PRNP | c.222G>T (p.Gly74=) c.133G>T (p.Ala45Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699444_4699446del | CA634331321 | PRNP | c.224_226del (p.Gln75del) c.135_137del (p.Ala46del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699442_4699466delinsGCAGCCCCATGGTGGTGGCTGGGGA | CA2347156455 | PRNP | c.222_246delinsGCAGCCCCATGGTGGTGGCTGGGGA (p.Gly74=) c.133_157delinsGCAGCCCCATGGTGGTGGCTGGGGA (p.Ala45=) | |
20 | g.4699443C>A | CA408151883 | PRNP | c.223C>A (p.Gln75Lys) c.134C>A (p.Ala45Glu) | gnomAD v4 |
20 | g.4699443C= | CA2347156456 | PRNP | c.223C= (p.Gln75=) c.134C= (p.Ala45=) | |
20 | g.4699443C>G | CA408151884 | PRNP | c.223C>G (p.Gln75Glu) c.134C>G (p.Ala45Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699443C>T | CA9752033 | PRNP | c.223C>T (p.Gln75Ter) c.134C>T (p.Ala45Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699448_4699471dup | CA9752031 | PRNP | c.228_251dup (p.Pro84_His85insHisGlyGlyGlyTrpGlyGlnPro) c.139_162dup (p.Ala54_Ser55insProTrpTrpTrpLeuGlyThrAla) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699448_4699471del | CA509567202 | PRNP | c.228_251del (p.His77_Pro84del) c.139_162del (p.Pro47_Ala54del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699444A>C | CA408151885 | PRNP | c.224A>C (p.Gln75Pro) c.135A>C (p.Ala45=) | |
20 | g.4699444A>G | CA408151886 | PRNP | c.224A>G (p.Gln75Arg) c.135A>G (p.Ala45=) | gnomAD v4 |
20 | g.4699444A>T | CA408151887 | PRNP | c.224A>T (p.Gln75Leu) c.135A>T (p.Ala45=) | |
20 | g.4699444_4699447delinsAGCC | CA2347156457 | PRNP | c.224_227delinsAGCC (p.Gln75=) c.135_138delinsAGCC (p.Ala45=) | |
20 | g.4699445G>A | CA9752034 | PRNP | c.225G>A (p.Gln75=) c.136G>A (p.Ala46Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699445G>C | CA408151888 | PRNP | c.225G>C (p.Gln75His) c.136G>C (p.Ala46Pro) | |
20 | g.4699445G= | CA2347156458 | PRNP | c.225G= (p.Gln75=) c.136G= (p.Ala46=) | |
20 | g.4699445G>T | CA408151889 | PRNP | c.225G>T (p.Gln75His) c.136G>T (p.Ala46Ser) | |
20 | g.4699445_4699447del | CA634331322 | PRNP | c.225_227del (p.Gln75_Pro76delinsHis) c.136_138del (p.Ala46del) | dbSNP gnomAD v2 |
20 | g.4699446C>A | CA408151892 | PRNP | c.226C>A (p.Pro76Thr) c.137C>A (p.Ala46Asp) | |
20 | g.4699446C>G | CA408151891 | PRNP | c.226C>G (p.Pro76Ala) c.137C>G (p.Ala46Gly) | |
20 | g.4699446C>T | CA408151890 | PRNP | c.226C>T (p.Pro76Ser) c.137C>T (p.Ala46Val) | |
20 | g.4699447C>A | CA408151894 | PRNP | c.227C>A (p.Pro76His) c.138C>A (p.Ala46=) | |
20 | g.4699447C= | CA2347156459 | PRNP | c.227C= (p.Pro76=) c.138C= (p.Ala46=) | |
20 | g.4699447C>G | CA9752035 | PRNP | c.227C>G (p.Pro76Arg) c.138C>G (p.Ala46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699447C>T | CA408151893 | PRNP | c.227C>T (p.Pro76Leu) c.138C>T (p.Ala46=) | |
20 | g.4699447_4699448insT | CA2651785450 | PRNP | c.227_228insT (p.His77ProfsTer28) c.138_139insT (p.Pro47SerfsTer?) | gnomAD v4 |
20 | g.4699448C>A | CA509567208 | PRNP | c.228C>A (p.Pro76=) c.139C>A (p.Pro47Thr) | |
20 | g.4699448C= | CA2347156460 | PRNP | c.228C= (p.Pro76=) c.139C= (p.Pro47=) | |
20 | g.4699448C>G | CA509567211 | PRNP | c.228C>G (p.Pro76=) c.139C>G (p.Pro47Ala) | |
20 | g.4699448C>T | CA249095 | PRNP | c.228C>T (p.Pro76=) c.139C>T (p.Pro47Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699448_4699472delinsCCATGGTGGTGGCTGGGGACAGCCT | CA2347156461 | PRNP | c.228_252delinsCCATGGTGGTGGCTGGGGACAGCCT (p.Pro76=) c.139_163delinsCCATGGTGGTGGCTGGGGACAGCCT (p.Pro47=) | |
20 | g.4699448_4699449insATGGTGGTGGCTGGGGACAGCCT | CA2651785451 | PRNP | c.228_229insATGGTGGTGGCTGGGGACAGCCT (p.His77MetfsTer?) c.139_140insATGGTGGTGGCTGGGGACAGCCT (p.Pro47HisfsTer?) | gnomAD v4 |
20 | g.4699449C>A | CA408151897 | PRNP | c.229C>A (p.His77Asn) c.140C>A (p.Pro47Gln) | |
20 | g.4699449C>G | CA408151896 | PRNP | c.229C>G (p.His77Asp) c.140C>G (p.Pro47Arg) | |
20 | g.4699449C>T | CA408151895 | PRNP | c.229C>T (p.His77Tyr) c.140C>T (p.Pro47Leu) | gnomAD v4 |
20 | g.4699489_4699490insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG | CA9752038 | PRNP | c.269_270insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG (p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGlyGlnProHisGlyGlyGlyTrpGly) c.180_181insACAGCCTCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGG (p.Gly60_Ser61insThrAlaSerTrpTrpTrpLeuGlyThrAlaSerTrpTrpTrpLeuGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699466_4699489dup | CA9752037 | PRNP | c.246_269dup (p.Gly90_Gln91insGlnProHisGlyGlyGlyTrpGly) c.157_180dup (p.Gly60_Ser61insThrAlaSerTrpTrpTrpLeuGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699466_4699489del | CA9752036 | PRNP | c.246_269del (p.Gln83_Gly90del) c.157_180del (p.Thr53_Gly60del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699450A>C | CA408151898 | PRNP | c.230A>C (p.His77Pro) c.141A>C (p.Pro47=) | |
20 | g.4699450A>G | CA408151899 | PRNP | c.230A>G (p.His77Arg) c.141A>G (p.Pro47=) | |
20 | g.4699450A>T | CA408151900 | PRNP | c.230A>T (p.His77Leu) c.141A>T (p.Pro47=) | |
20 | g.4699451T>A | CA408151901 | PRNP | c.231T>A (p.His77Gln) c.142T>A (p.Trp48Arg) | dbSNP |
20 | g.4699451T>C | CA509567217 | PRNP | c.231T>C (p.His77=) c.142T>C (p.Trp48Arg) | |
20 | g.4699451T>G | CA408151902 | PRNP | c.231T>G (p.His77Gln) c.142T>G (p.Trp48Gly) | |
20 | g.4699451T= | CA2347156462 | PRNP | c.231T= (p.His77=) c.142T= (p.Trp48=) | |
20 | g.4699452G>A | CA408151903 | PRNP | c.232G>A (p.Gly78Ser) c.143G>A (p.Trp48Ter) | |
20 | g.4699452G>C | CA408151905 | PRNP | c.232G>C (p.Gly78Arg) c.143G>C (p.Trp48Ser) | |
20 | g.4699452G>T | CA408151904 | PRNP | c.232G>T (p.Gly78Cys) c.143G>T (p.Trp48Leu) | |
20 | g.4699453G>A | CA408151906 | PRNP | c.233G>A (p.Gly78Asp) c.144G>A (p.Trp48Ter) | |
20 | g.4699453G>C | CA408151907 | PRNP | c.233G>C (p.Gly78Ala) c.144G>C (p.Trp48Cys) | |
20 | g.4699453G>T | CA408151908 | PRNP | c.233G>T (p.Gly78Val) c.144G>T (p.Trp48Cys) | |
20 | g.4699454T>A | CA509567218 | PRNP | c.234T>A (p.Gly78=) c.145T>A (p.Trp49Arg) | |
20 | g.4699454T>C | CA509567219 | PRNP | c.234T>C (p.Gly78=) c.145T>C (p.Trp49Arg) | |
20 | g.4699454T>G | CA509567222 | PRNP | c.234T>G (p.Gly78=) c.145T>G (p.Trp49Gly) | |
20 | g.4699454dup | CA2577330166 | PRNP | c.234dup (p.Gly79TrpfsTer26) c.145dup (p.Trp49LeufsTer?) | |
20 | g.4699455G>A | CA408151909 | PRNP | c.235G>A (p.Gly79Ser) c.146G>A (p.Trp49Ter) | |
20 | g.4699455G>C | CA408151910 | PRNP | c.235G>C (p.Gly79Arg) c.146G>C (p.Trp49Ser) | |
20 | g.4699455G>T | CA408151911 | PRNP | c.235G>T (p.Gly79Cys) c.146G>T (p.Trp49Leu) | |
20 | g.4699456G>A | CA408151912 | PRNP | c.236G>A (p.Gly79Asp) c.147G>A (p.Trp49Ter) | |
20 | g.4699456G>C | CA408151913 | PRNP | c.236G>C (p.Gly79Ala) c.147G>C (p.Trp49Cys) | |
20 | g.4699456G>T | CA408151914 | PRNP | c.236G>T (p.Gly79Val) c.147G>T (p.Trp49Cys) | |
20 | g.4699457T>A | CA509567227 | PRNP | c.237T>A (p.Gly79=) c.148T>A (p.Trp50Arg) | |
20 | g.4699457T>C | CA509567228 | PRNP | c.237T>C (p.Gly79=) c.148T>C (p.Trp50Arg) | |
20 | g.4699457T>G | CA509567229 | PRNP | c.237T>G (p.Gly79=) c.148T>G (p.Trp50Gly) | |
20 | g.4699458G>A | CA9752039 | PRNP | c.238G>A (p.Gly80Ser) c.149G>A (p.Trp50Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699458G>C | CA408151915 | PRNP | c.238G>C (p.Gly80Arg) c.149G>C (p.Trp50Ser) | |
20 | g.4699458G= | CA2347156463 | PRNP | c.238G= (p.Gly80=) c.149G= (p.Trp50=) | |
20 | g.4699458G>T | CA408151916 | PRNP | c.238G>T (p.Gly80Cys) c.149G>T (p.Trp50Leu) | |
20 | g.4699459G>A | CA408151918 | PRNP | c.239G>A (p.Gly80Asp) c.150G>A (p.Trp50Ter) | |
20 | g.4699459G>C | CA408151919 | PRNP | c.239G>C (p.Gly80Ala) c.150G>C (p.Trp50Cys) | |
20 | g.4699459G>T | CA408151917 | PRNP | c.239G>T (p.Gly80Val) c.150G>T (p.Trp50Cys) | |
20 | g.4699460C>A | CA509567238 | PRNP | c.240C>A (p.Gly80=) c.151C>A (p.Leu51Met) | |
20 | g.4699460C>G | CA509567233 | PRNP | c.240C>G (p.Gly80=) c.151C>G (p.Leu51Val) | |
20 | g.4699460C>T | CA509567235 | PRNP | c.240C>T (p.Gly80=) c.151C>T (p.Leu51=) | |
20 | g.4699461T>A | CA408151920 | PRNP | c.241T>A (p.Trp81Arg) c.152T>A (p.Leu51Gln) | |
20 | g.4699461T>C | CA408151922 | PRNP | c.241T>C (p.Trp81Arg) c.152T>C (p.Leu51Pro) | gnomAD v4 |
20 | g.4699461T>G | CA408151921 | PRNP | c.241T>G (p.Trp81Gly) c.152T>G (p.Leu51Arg) | |
20 | g.4699462G>A | CA408151923 | PRNP | c.242G>A (p.Trp81Ter) c.153G>A (p.Leu51=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699462G>C | CA408151924 | PRNP | c.242G>C (p.Trp81Ser) c.153G>C (p.Leu51=) | |
20 | g.4699462G= | CA2347156464 | PRNP | c.242G= (p.Trp81=) c.153G= (p.Leu51=) | |
20 | g.4699462G>T | CA408151925 | PRNP | c.242G>T (p.Trp81Leu) c.153G>T (p.Leu51=) | |
20 | g.4699463G>A | CA408151926 | PRNP | c.243G>A (p.Trp81Ter) c.154G>A (p.Gly52Arg) | |
20 | g.4699463G>C | CA408151927 | PRNP | c.243G>C (p.Trp81Cys) c.154G>C (p.Gly52Arg) | |
20 | g.4699463G>T | CA408151928 | PRNP | c.243G>T (p.Trp81Cys) c.154G>T (p.Gly52Trp) | |
20 | g.4699464G>A | CA408151929 | PRNP | c.244G>A (p.Gly82Arg) c.155G>A (p.Gly52Glu) | dbSNP gnomAD v4 |
20 | g.4699464G>C | CA408151930 | PRNP | c.244G>C (p.Gly82Arg) c.155G>C (p.Gly52Ala) | |
20 | g.4699464G= | CA2347156465 | PRNP | c.244G= (p.Gly82=) c.155G= (p.Gly52=) | |
20 | g.4699464G>T | CA408151931 | PRNP | c.244G>T (p.Gly82Ter) c.155G>T (p.Gly52Val) | |
20 | g.4699465G>A | CA408151932 | PRNP | c.245G>A (p.Gly82Glu) c.156G>A (p.Gly52=) | dbSNP |
20 | g.4699465G>C | CA408151933 | PRNP | c.245G>C (p.Gly82Ala) c.156G>C (p.Gly52=) | |
20 | g.4699465G= | CA2347156466 | PRNP | c.245G= (p.Gly82=) c.156G= (p.Gly52=) | |
20 | g.4699465G>T | CA408151934 | PRNP | c.245G>T (p.Gly82Val) c.156G>T (p.Gly52=) | |
20 | g.4699465_4699471delinsGACAGCC | CA2347156467 | PRNP | c.245_251delinsGACAGCC (p.Gly82=) c.156_162delinsGACAGCC (p.Gly52=) | |
20 | g.4699466A= | CA2347156468 | PRNP | c.246A= (p.Gly82=) c.157A= (p.Thr53=) | |
20 | g.4699466A>C | CA509567242 | PRNP | c.246A>C (p.Gly82=) c.157A>C (p.Thr53Pro) | |
20 | g.4699466A>G | CA9752040 | PRNP | c.246A>G (p.Gly82=) c.157A>G (p.Thr53Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699466A>T | CA509567243 | PRNP | c.246A>T (p.Gly82=) c.157A>T (p.Thr53Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699466dup | CA2651785452 | PRNP | c.246dup (p.Gln83ThrfsTer22) c.157dup (p.Thr53AsnfsTer28) | gnomAD v4 |
20 | g.4699466_4699471del | CA634331323 | PRNP | c.246_251del (p.Gln83_Pro84del) c.157_162del (p.Thr53_Ala54del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699467C>A | CA408151935 | PRNP | c.247C>A (p.Gln83Lys) c.158C>A (p.Thr53Lys) | |
20 | g.4699467C>G | CA408151936 | PRNP | c.247C>G (p.Gln83Glu) c.158C>G (p.Thr53Arg) | |
20 | g.4699467C>T | CA408151937 | PRNP | c.247C>T (p.Gln83Ter) c.158C>T (p.Thr53Ile) | |
20 | g.4699469_4699492dup | CA634331324 | PRNP | c.249_272dup (p.Gln91_Gly92insProHisGlyGlyGlyTrpGlyGln) c.160_183dup (p.Ser61_Arg62insAlaSerTrpTrpTrpLeuGlySer) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699468A>C | CA408151938 | PRNP | c.248A>C (p.Gln83Pro) c.159A>C (p.Thr53=) | |
20 | g.4699468A>G | CA408151939 | PRNP | c.248A>G (p.Gln83Arg) c.159A>G (p.Thr53=) | |
20 | g.4699468A>T | CA408151940 | PRNP | c.248A>T (p.Gln83Leu) c.159A>T (p.Thr53=) | |
20 | g.4699468dup | CA2651785453 | PRNP | c.248dup (p.Pro84AlafsTer21) c.159dup (p.Ala54SerfsTer27) | gnomAD v4 |
20 | g.4699469G>A | CA311093278 | PRNP | c.249G>A (p.Gln83=) c.160G>A (p.Ala54Thr) | dbSNP COSMIC |
20 | g.4699469G>C | CA408151941 | PRNP | c.249G>C (p.Gln83His) c.160G>C (p.Ala54Pro) | gnomAD v4 |
20 | g.4699469G= | CA2347156469 | PRNP | c.249G= (p.Gln83=) c.160G= (p.Ala54=) | |
20 | g.4699469G>T | CA408151942 | PRNP | c.249G>T (p.Gln83His) c.160G>T (p.Ala54Ser) | |
20 | g.4699470C>A | CA311093281 | PRNP | c.250C>A (p.Pro84Thr) c.161C>A (p.Ala54Asp) | dbSNP |
20 | g.4699470C= | CA2347156470 | PRNP | c.250C= (p.Pro84=) c.161C= (p.Ala54=) | |
20 | g.4699470C>G | CA408151943 | PRNP | c.250C>G (p.Pro84Ala) c.161C>G (p.Ala54Gly) | |
20 | g.4699470C>T | CA408151944 | PRNP | c.250C>T (p.Pro84Ser) c.161C>T (p.Ala54Val) | dbSNP |
20 | g.4699471C>A | CA408151946 | PRNP | c.251C>A (p.Pro84His) c.162C>A (p.Ala54=) | |
20 | g.4699471C>G | CA408151947 | PRNP | c.251C>G (p.Pro84Arg) c.162C>G (p.Ala54=) | |
20 | g.4699471C>T | CA408151945 | PRNP | c.251C>T (p.Pro84Leu) c.162C>T (p.Ala54=) | gnomAD v4 |
20 | g.4699472T>A | CA509567250 | PRNP | c.252T>A (p.Pro84=) c.163T>A (p.Ser55Thr) | |
20 | g.4699472T>C | CA9752041 | PRNP | c.252T>C (p.Pro84=) c.163T>C (p.Ser55Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699472T>G | CA509567251 | PRNP | c.252T>G (p.Pro84=) c.163T>G (p.Ser55Ala) | |
20 | g.4699472T= | CA2347156471 | PRNP | c.252T= (p.Pro84=) c.163T= (p.Ser55=) | |
20 | g.4699473C>A | CA408151948 | PRNP | c.253C>A (p.His85Asn) c.164C>A (p.Ser55Ter) | |
20 | g.4699473C= | CA2347156472 | PRNP | c.253C= (p.His85=) c.164C= (p.Ser55=) | |
20 | g.4699473C>G | CA408151949 | PRNP | c.253C>G (p.His85Asp) c.164C>G (p.Ser55Ter) | |
20 | g.4699473C>T | CA9752042 | PRNP | c.253C>T (p.His85Tyr) c.164C>T (p.Ser55Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699473_4699476delinsCATG | CA2347156473 | PRNP | c.253_256delinsCATG (p.His85=) c.164_167delinsCATG (p.Ser55=) | |
20 | g.4699474A= | CA2347156474 | PRNP | c.254A= (p.His85=) c.165A= (p.Ser55=) | |
20 | g.4699474A>C | CA408151950 | PRNP | c.254A>C (p.His85Pro) c.165A>C (p.Ser55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699474A>G | CA408151951 | PRNP | c.254A>G (p.His85Arg) c.165A>G (p.Ser55=) | gnomAD v4 |
20 | g.4699474A>T | CA408151952 | PRNP | c.254A>T (p.His85Leu) c.165A>T (p.Ser55=) | |
20 | g.4699474_4699476del | CA634331325 | PRNP | c.254_256del (p.His85_Gly86delinsArg) c.165_167del (p.Trp56del) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699475T>A | CA408151953 | PRNP | c.255T>A (p.His85Gln) c.166T>A (p.Trp56Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.4699475T>C | CA509567256 | PRNP | c.255T>C (p.His85=) c.166T>C (p.Trp56Arg) | |
20 | g.4699475T>G | CA408151954 | PRNP | c.255T>G (p.His85Gln) c.166T>G (p.Trp56Gly) | |
20 | g.4699475T= | CA2347156475 | PRNP | c.255T= (p.His85=) c.166T= (p.Trp56=) | |
20 | g.4699476G>A | CA408151955 | PRNP | c.256G>A (p.Gly86Ser) c.167G>A (p.Trp56Ter) | gnomAD v4 |
20 | g.4699476G>C | CA408151956 | PRNP | c.256G>C (p.Gly86Arg) c.167G>C (p.Trp56Ser) | |
20 | g.4699476G>T | CA408151957 | PRNP | c.256G>T (p.Gly86Cys) c.167G>T (p.Trp56Leu) | |
20 | g.4699477G>A | CA408151959 | PRNP | c.257G>A (p.Gly86Asp) c.168G>A (p.Trp56Ter) | gnomAD v4 |
20 | g.4699477G>C | CA408151960 | PRNP | c.257G>C (p.Gly86Ala) c.168G>C (p.Trp56Cys) | |
20 | g.4699477G>T | CA408151958 | PRNP | c.257G>T (p.Gly86Val) c.168G>T (p.Trp56Cys) | |
20 | g.4699478T>A | CA509567262 | PRNP | c.258T>A (p.Gly86=) c.169T>A (p.Trp57Arg) | |
20 | g.4699478T>C | CA509567261 | PRNP | c.258T>C (p.Gly86=) c.169T>C (p.Trp57Arg) | |
20 | g.4699478T>G | CA509567260 | PRNP | c.258T>G (p.Gly86=) c.169T>G (p.Trp57Gly) | |
20 | g.4699479G>A | CA408151961 | PRNP | c.259G>A (p.Gly87Ser) c.170G>A (p.Trp57Ter) | |
20 | g.4699479G>C | CA408151962 | PRNP | c.259G>C (p.Gly87Arg) c.170G>C (p.Trp57Ser) | COSMIC |
20 | g.4699479G>T | CA408151963 | PRNP | c.259G>T (p.Gly87Cys) c.170G>T (p.Trp57Leu) | |
20 | g.4699480G>A | CA408151964 | PRNP | c.260G>A (p.Gly87Asp) c.171G>A (p.Trp57Ter) | |
20 | g.4699480G>C | CA408151965 | PRNP | c.260G>C (p.Gly87Ala) c.171G>C (p.Trp57Cys) | |
20 | g.4699480G>T | CA408151966 | PRNP | c.260G>T (p.Gly87Val) c.171G>T (p.Trp57Cys) | |
20 | g.4699481T>A | CA509567265 | PRNP | c.261T>A (p.Gly87=) c.172T>A (p.Trp58Arg) | |
20 | g.4699481T>C | CA9752043 | PRNP | c.261T>C (p.Gly87=) c.172T>C (p.Trp58Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699481T>G | CA509567268 | PRNP | c.261T>G (p.Gly87=) c.172T>G (p.Trp58Gly) | |
20 | g.4699481T= | CA2347156476 | PRNP | c.261T= (p.Gly87=) c.172T= (p.Trp58=) | |
20 | g.4699482G>A | CA408151967 | PRNP | c.262G>A (p.Gly88Ser) c.173G>A (p.Trp58Ter) | |
20 | g.4699482G>C | CA408151968 | PRNP | c.262G>C (p.Gly88Arg) c.173G>C (p.Trp58Ser) | |
20 | g.4699482G>T | CA408151969 | PRNP | c.262G>T (p.Gly88Cys) c.173G>T (p.Trp58Leu) | |
20 | g.4699483G>A | CA408151970 | PRNP | c.263G>A (p.Gly88Asp) c.174G>A (p.Trp58Ter) | |
20 | g.4699483G>C | CA9752044 | PRNP | c.263G>C (p.Gly88Ala) c.174G>C (p.Trp58Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699483G= | CA2347156477 | PRNP | c.263G= (p.Gly88=) c.174G= (p.Trp58=) | |
20 | g.4699483G>T | CA408151971 | PRNP | c.263G>T (p.Gly88Val) c.174G>T (p.Trp58Cys) | gnomAD v4 |
20 | g.4699484C>A | CA509567270 | PRNP | c.264C>A (p.Gly88=) c.175C>A (p.Leu59Met) | |
20 | g.4699484C>G | CA509567271 | PRNP | c.264C>G (p.Gly88=) c.175C>G (p.Leu59Val) | |
20 | g.4699484C>T | CA509567272 | PRNP | c.264C>T (p.Gly88=) c.175C>T (p.Leu59=) | |
20 | g.4699485T>A | CA408151972 | PRNP | c.265T>A (p.Trp89Arg) c.176T>A (p.Leu59Gln) | |
20 | g.4699485T>C | CA408151974 | PRNP | c.265T>C (p.Trp89Arg) c.176T>C (p.Leu59Pro) | |
20 | g.4699485T>G | CA408151973 | PRNP | c.265T>G (p.Trp89Gly) c.176T>G (p.Leu59Arg) | |
20 | g.4699486G>A | CA408151975 | PRNP | c.266G>A (p.Trp89Ter) c.177G>A (p.Leu59=) | |
20 | g.4699486G>C | CA408151977 | PRNP | c.266G>C (p.Trp89Ser) c.177G>C (p.Leu59=) | |
20 | g.4699486G>T | CA408151976 | PRNP | c.266G>T (p.Trp89Leu) c.177G>T (p.Leu59=) | |
20 | g.4699487G>A | CA408151978 | PRNP | c.267G>A (p.Trp89Ter) c.178G>A (p.Gly60Arg) | gnomAD v4 |
20 | g.4699487G>C | CA408151980 | PRNP | c.267G>C (p.Trp89Cys) c.178G>C (p.Gly60Arg) | |
20 | g.4699487G>T | CA408151979 | PRNP | c.267G>T (p.Trp89Cys) c.178G>T (p.Gly60Trp) | |
20 | g.4699488G>A | CA9752045 | PRNP | c.268G>A (p.Gly90Ser) c.179G>A (p.Gly60Glu) | dbSNP ExAC |
20 | g.4699488G>C | CA408151981 | PRNP | c.268G>C (p.Gly90Arg) c.179G>C (p.Gly60Ala) | |
20 | g.4699488G= | CA2347156478 | PRNP | c.268G= (p.Gly90=) c.179G= (p.Gly60=) | |
20 | g.4699488G>T | CA408151982 | PRNP | c.268G>T (p.Gly90Cys) c.179G>T (p.Gly60Val) | |
20 | g.4699489G>A | CA408151983 | PRNP | c.269G>A (p.Gly90Asp) c.180G>A (p.Gly60=) | |
20 | g.4699489G>C | CA408151984 | PRNP | c.269G>C (p.Gly90Ala) c.180G>C (p.Gly60=) | |
20 | g.4699489G>T | CA408151985 | PRNP | c.269G>T (p.Gly90Val) c.180G>T (p.Gly60=) | gnomAD v4 |