Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154026923_154030670del | CA16616626 | MECP2 | c.1158_*3444del (n.[c.1158_*3444del;Pro387ThrfsTer?]) c.1194_*3444del (n.[c.1194_*3444del;Pro399ThrfsTer?]) c.1158_*3371del c.489_*3444del (n.[c.489_*3444del;Pro164ThrfsTer?]) c.879_*3444del (n.[c.879_*3444del;Pro294ThrfsTer?]) | ClinVar |
X | g.154027844_154030751del | CA274554 | MECP2 | c.1078_*2524del (n.[c.1078_*2524del;Ser360LeufsTer4]) c.1114_*2524del (n.[c.1114_*2524del;Ser372LeufsTer4]) c.1078_*2451del c.409_*2524del (n.[c.409_*2524del;Ser137LeufsTer4]) c.799_*2524del (n.[c.799_*2524del;Ser267LeufsTer4]) | ClinVar |
X | g.154028067_154030775del | CA915952014 | MECP2 | c.1053_*2300del (n.[c.1053_*2300del;Lys352Ter]) c.1089_*2300del (n.[c.1089_*2300del;Lys364Ter]) c.1053_*2227del c.384_*2300del (n.[c.384_*2300del;Lys129Ter]) c.774_*2300del (n.[c.774_*2300del;Lys259Ter]) | ClinVar |
X | g.154029065_154030675delinsCGGGA | CA2580101831 | MECP2 | c.1153_*1302delinsTCCCG (n.[c.1153_*1302delinsTCCCG;Pro385SerfsTer?]) c.1189_*1302delinsTCCCG (n.[c.1189_*1302delinsTCCCG;Pro397SerfsTer?]) c.1153_*1229delinsTCCCG c.874_*1302delinsTCCCG (n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]) c.484_*1302delinsTCCCG (n.[c.484_*1302delinsTCCCG;Pro162SerfsTer?]) | ClinVar |
X | g.154029424_154030672del | CA274568 | MECP2 | c.1157_*944del (n.[c.1157_*944del;Leu386ProfsTer5]) c.1193_*944del (n.[c.1193_*944del;Leu398ProfsTer5]) c.1157_*871del c.878_*944del (n.[c.878_*944del;Leu293ProfsTer5]) c.488_*944del (n.[c.488_*944del;Leu163ProfsTer5]) | ClinVar |
X | g.154029486_154030374delinsCTCCAACGGGTGGCGCTAGAGGCCATGGAGGCAGTAGGACAAGGTGCAGGCAGGCTGGCCTGGGGTCAGGCCGGGCAGAGCACAGCGGGGTGAGAGGGATTC | CA2697544636 | MECP2 | c.1454_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1454_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val485GlyfsTer60]) c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val497GlyfsTer60]) c.1450_*808delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1450_*808delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Leu484GlufsTer29]) c.1175_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1175_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val392GlyfsTer60]) c.785_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.785_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val262GlyfsTer60]) | ClinVar |
X | g.154029504_154030589del | CA916084014 | MECP2 | c.1239_*863del (n.[c.1239_*863del;Lys414HisfsTer8]) c.1275_*863del (n.[c.1275_*863del;Lys426HisfsTer8]) c.1239_*790del c.960_*863del (n.[c.960_*863del;Lys321HisfsTer8]) c.570_*863del (n.[c.570_*863del;Lys191HisfsTer8]) | ClinVar |
X | g.154029637_154029719del | CA2695098234 | MECP2 | c.*656_*738del (n.*656_*738del) c.*583_*665del (n.*583_*665del) | gnomAD v4 |
X | g.154029710del | CA2695098399 | MECP2 | c.*657del (n.*657del) c.*584del (n.*584del) | gnomAD v4 |
X | g.154029710A= | CA2466569613 | MECP2 | c.*657T= (n.*657T=) c.*584T= (n.*584T=) | |
X | g.154029710A>C | CA2695098397 | MECP2 | c.*657T>G (n.*657T>G) c.*584T>G (n.*584T>G) | gnomAD v4 |
X | g.154029710A>G | CA2466569614 | MECP2 | c.*657T>C (n.*657T>C) c.*584T>C (n.*584T>C) | dbSNP |
X | g.154029711G>A | CA2466569616 | MECP2 | c.*656C>T (n.*656C>T) c.*583C>T (n.*583C>T) | dbSNP gnomAD v4 |
X | g.154029711G= | CA2466569615 | MECP2 | c.*656C= (n.*656C=) c.*583C= (n.*583C=) | |
X | g.154029711G>T | CA2695098403 | MECP2 | c.*656C>A (n.*656C>A) c.*583C>A (n.*583C>A) | gnomAD v4 |
X | g.154029712C>A | CA1138553503 | MECP2 | c.*655G>T (n.*655G>T) c.*582G>T (n.*582G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029712C= | CA2466569617 | MECP2 | c.*655G= (n.*655G=) c.*582G= (n.*582G=) | |
X | g.154029712C>G | CA337261054 | MECP2 | c.*655G>C (n.*655G>C) c.*582G>C (n.*582G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029712C>T | CA873290967 | MECP2 | c.*655G>A (n.*655G>A) c.*582G>A (n.*582G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029713C>A | CA2695098411 | MECP2 | c.*654G>T (n.*654G>T) c.*581G>T (n.*581G>T) | gnomAD v4 |
X | g.154029713C= | CA2466569618 | MECP2 | c.*654G= (n.*654G=) c.*581G= (n.*581G=) | |
X | g.154029713C>T | CA1138553504 | MECP2 | c.*654G>A (n.*654G>A) c.*581G>A (n.*581G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029713_154029714insCGTCTCCCGGGTCTTGCGCTTCTTG | CA2695098414 | MECP2 | c.*653_*654insCAAGAAGCGCAAGACCCGGGAGACG (n.*653_*654insCAAGAAGCGCAAGACCCGGGAGACG) c.*580_*581insCAAGAAGCGCAAGACCCGGGAGACG (n.*580_*581insCAAGAAGCGCAAGACCCGGGAGACG) | gnomAD v4 |
X | g.154029714A>G | CA2695098415 | MECP2 | c.*653T>C (n.*653T>C) c.*580T>C (n.*580T>C) | dbSNP gnomAD v4 |
X | g.154029715T>C | CA2466569620 | MECP2 | c.*652A>G (n.*652A>G) c.*579A>G (n.*579A>G) | dbSNP |
X | g.154029715T>G | CA2602677300 | MECP2 | c.*652A>C (n.*652A>C) c.*579A>C (n.*579A>C) | gnomAD v3 gnomAD v4 |
X | g.154029715T= | CA2466569619 | MECP2 | c.*652A= (n.*652A=) c.*579A= (n.*579A=) | |
X | g.154029716G>C | CA2695098418 | MECP2 | c.*651C>G (n.*651C>G) c.*578C>G (n.*578C>G) | gnomAD v4 |
X | g.154029716G>T | CA2695098419 | MECP2 | c.*651C>A (n.*651C>A) c.*578C>A (n.*578C>A) | gnomAD v4 |
X | g.154029716_154029717insGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGG | CA2695098417 | MECP2 | c.*651_*652insCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCC (n.*651_*652insCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCC) c.*578_*579insCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCC (n.*578_*579insCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCC) | gnomAD v4 |
X | g.154029717C>A | CA2695098422 | MECP2 | c.*650G>T (n.*650G>T) c.*577G>T (n.*577G>T) | gnomAD v4 |
X | g.154029717C= | CA2466569621 | MECP2 | c.*650G= (n.*650G=) c.*577G= (n.*577G=) | |
X | g.154029717C>G | CA1138553505 | MECP2 | c.*650G>C (n.*650G>C) c.*577G>C (n.*577G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029717C>T | CA873290972 | MECP2 | c.*650G>A (n.*650G>A) c.*577G>A (n.*577G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029718C>A | CA2695098424 | MECP2 | c.*649G>T (n.*649G>T) c.*576G>T (n.*576G>T) | gnomAD v4 |
X | g.154029718C= | CA2466569622 | MECP2 | c.*649G= (n.*649G=) c.*576G= (n.*576G=) | |
X | g.154029718C>G | CA2466569623 | MECP2 | c.*649G>C (n.*649G>C) c.*576G>C (n.*576G>C) | dbSNP |
X | g.154029718C>T | CA873290974 | MECP2 | c.*649G>A (n.*649G>A) c.*576G>A (n.*576G>A) | dbSNP |
X | g.154029719A= | CA2466569624 | MECP2 | c.*648T= (n.*648T=) c.*575T= (n.*575T=) | |
X | g.154029719A>G | CA2466569625 | MECP2 | c.*648T>C (n.*648T>C) c.*575T>C (n.*575T>C) | dbSNP |
X | g.154029721A= | CA2466569626 | MECP2 | c.*646T= (n.*646T=) c.*573T= (n.*573T=) | |
X | g.154029721A>C | CA2466569627 | MECP2 | c.*646T>G (n.*646T>G) c.*573T>G (n.*573T>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029723C>A | CA2695098427 | MECP2 | c.*644G>T (n.*644G>T) c.*571G>T (n.*571G>T) | gnomAD v4 |
X | g.154029723C= | CA2466569628 | MECP2 | c.*644G= (n.*644G=) c.*571G= (n.*571G=) | |
X | g.154029723C>G | CA2466569629 | MECP2 | c.*644G>C (n.*644G>C) c.*571G>C (n.*571G>C) | dbSNP gnomAD v4 |
X | g.154029725G>A | CA2695098428 | MECP2 | c.*642C>T (n.*642C>T) c.*569C>T (n.*569C>T) | gnomAD v4 |
X | g.154029727A>G | CA2695098429 | MECP2 | c.*640T>C (n.*640T>C) c.*567T>C (n.*567T>C) | gnomAD v4 |
X | g.154029728G>C | CA645169043 | MECP2 | c.*639C>G (n.*639C>G) c.*566C>G (n.*566C>G) | dbSNP gnomAD v2 |
X | g.154029728G= | CA2466569630 | MECP2 | c.*639C= (n.*639C=) c.*566C= (n.*566C=) | |
X | g.154029728G>T | CA2695098430 | MECP2 | c.*639C>A (n.*639C>A) c.*566C>A (n.*566C>A) | gnomAD v4 |