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.154029698C>A | CA2695098367 | MECP2 | c.*669G>T (n.*669G>T) c.*596G>T (n.*596G>T) | gnomAD v4 |
X | g.154029698C= | CA2466569597 | MECP2 | c.*669G= (n.*669G=) c.*596G= (n.*596G=) | |
X | g.154029698C>G | CA873290946 | MECP2 | c.*669G>C (n.*669G>C) c.*596G>C (n.*596G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029699T>A | CA2695098369 | MECP2 | c.*668A>T (n.*668A>T) c.*595A>T (n.*595A>T) | gnomAD v4 |
X | g.154029699T>C | CA2695098370 | MECP2 | c.*668A>G (n.*668A>G) c.*595A>G (n.*595A>G) | gnomAD v4 |
X | g.154029699_154029700delinsTC | CA2466569598 | MECP2 | c.*667_*668delinsGA (n.*667_*668delinsGA) c.*594_*595delinsGA (n.*594_*595delinsGA) | |
X | g.154029700C>A | CA337261034 | MECP2 | c.*667G>T (n.*667G>T) c.*594G>T (n.*594G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029700C= | CA2466569599 | MECP2 | c.*667G= (n.*667G=) c.*594G= (n.*594G=) | |
X | g.154029700C>G | CA873290947 | MECP2 | c.*667G>C (n.*667G>C) c.*594G>C (n.*594G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029700C>T | CA337261036 | MECP2 | c.*667G>A (n.*667G>A) c.*594G>A (n.*594G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029705del | CA873290948 | MECP2 | c.*667del (n.*667del) c.*594del (n.*594del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029701C>A | CA1138553498 | MECP2 | c.*666G>T (n.*666G>T) c.*593G>T (n.*593G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029701C= | CA2466569600 | MECP2 | c.*666G= (n.*666G=) c.*593G= (n.*593G=) | |
X | g.154029701C>T | CA2466569601 | MECP2 | c.*666G>A (n.*666G>A) c.*593G>A (n.*593G>A) | dbSNP |
X | g.154029702C>A | CA873290949 | MECP2 | c.*665G>T (n.*665G>T) c.*592G>T (n.*592G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029702C= | CA2466569602 | MECP2 | c.*665G= (n.*665G=) c.*592G= (n.*592G=) | |
X | g.154029702C>G | CA873290952 | MECP2 | c.*665G>C (n.*665G>C) c.*592G>C (n.*592G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029703C>A | CA337261038 | MECP2 | c.*664G>T (n.*664G>T) c.*591G>T (n.*591G>T) | dbSNP gnomAD v4 |
X | g.154029703C= | CA2466569603 | MECP2 | c.*664G= (n.*664G=) c.*591G= (n.*591G=) | |
X | g.154029704C>A | CA2466569605 | MECP2 | c.*663G>T (n.*663G>T) c.*590G>T (n.*590G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029704C= | CA2466569604 | MECP2 | c.*663G= (n.*663G=) c.*590G= (n.*590G=) | |
X | g.154029704C>G | CA1138553500 | MECP2 | c.*663G>C (n.*663G>C) c.*590G>C (n.*590G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029704C>T | CA645169040 | MECP2 | c.*663G>A (n.*663G>A) c.*590G>A (n.*590G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029705C>A | CA2466569607 | MECP2 | c.*662G>T (n.*662G>T) c.*589G>T (n.*589G>T) | dbSNP gnomAD v4 |
X | g.154029705C= | CA2466569606 | MECP2 | c.*662G= (n.*662G=) c.*589G= (n.*589G=) | |
X | g.154029705C>G | CA645169041 | MECP2 | c.*662G>C (n.*662G>C) c.*589G>C (n.*589G>C) | dbSNP gnomAD v2 |
X | g.154029705_154029706delinsCT | CA2466569608 | MECP2 | c.*661_*662delinsAG (n.*661_*662delinsAG) c.*588_*589delinsAG (n.*588_*589delinsAG) | |
X | g.154029706del | CA2466569609 | MECP2 | c.*661del (n.*661del) c.*588del (n.*588del) | dbSNP |
X | g.154029706T>C | CA2695098385 | MECP2 | c.*661A>G (n.*661A>G) c.*588A>G (n.*588A>G) | gnomAD v4 |
X | g.154029707C>A | CA337261050 | MECP2 | c.*660G>T (n.*660G>T) c.*587G>T (n.*587G>T) | dbSNP gnomAD v4 |
X | g.154029707C= | CA2466569610 | MECP2 | c.*660G= (n.*660G=) c.*587G= (n.*587G=) | |
X | g.154029707C>G | CA873290960 | MECP2 | c.*660G>C (n.*660G>C) c.*587G>C (n.*587G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029707C>T | CA2466569611 | MECP2 | c.*660G>A (n.*660G>A) c.*587G>A (n.*587G>A) | dbSNP |
X | g.154029708C>A | CA873290964 | MECP2 | c.*659G>T (n.*659G>T) c.*586G>T (n.*586G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029708C= | CA2466569612 | MECP2 | c.*659G= (n.*659G=) c.*586G= (n.*586G=) | |
X | g.154029708C>G | CA645169042 | MECP2 | c.*659G>C (n.*659G>C) c.*586G>C (n.*586G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029708C>T | CA1138553502 | MECP2 | c.*659G>A (n.*659G>A) c.*586G>A (n.*586G>A) | dbSNP gnomAD v3 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 |