UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.154029791_154030631del | CA2697544637 | MECP2 | c.1207_*586del (n.[c.1207_*586del;Pro403AsnfsTer?]) c.1243_*586del (n.[c.1243_*586del;Pro415AsnfsTer?]) c.1207_*513del c.928_*586del (n.[c.928_*586del;Pro310AsnfsTer?]) c.538_*586del (n.[c.538_*586del;Pro180AsnfsTer?]) | ClinVar |
| X | g.154029798_154030699delinsAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTT | CA2466569675 | MECP2 | c.1129_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT (n.[c.1129_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT;Lys377=]) c.1165_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT (n.[c.1165_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT;Lys389=]) c.1129_*496delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT c.850_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT (n.[c.850_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT;Lys284=]) c.460_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT (n.[c.460_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT;Lys154=]) | |
| X | g.154029799_154030699delinsCCACGG | CA274564 | MECP2 | c.1129_*568delinsCCGTGG (n.[c.1129_*568delinsCCGTGG;Lys377ProfsTer?]) c.1165_*568delinsCCGTGG (n.[c.1165_*568delinsCCGTGG;Lys389ProfsTer?]) c.1129_*495delinsCCGTGG c.850_*568delinsCCGTGG (n.[c.850_*568delinsCCGTGG;Lys284ProfsTer?]) c.460_*568delinsCCGTGG (n.[c.460_*568delinsCCGTGG;Lys154ProfsTer?]) | ClinVar dbSNP |
| X | g.154029810_154030728del | CA2739273827 | MECP2 | c.1100_*557del (n.[c.1100_*557del;His367LeufsTer?]) c.1136_*557del (n.[c.1136_*557del;His379LeufsTer?]) c.1100_*484del c.821_*557del (n.[c.821_*557del;His274LeufsTer?]) c.431_*557del (n.[c.431_*557del;His144LeufsTer?]) | ClinVar |
| X | g.154029914_154030682delinsGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGC | CA2466569776 | MECP2 | c.1146_*453delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC (n.[c.1146_*453delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC;Leu382=]) c.1182_*453delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC (n.[c.1182_*453delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC;Leu394=]) c.1146_*380delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC c.867_*453delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC (n.[c.867_*453delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC;Leu289=]) c.477_*453delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC (n.[c.477_*453delinsGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTC;Leu159=]) | |
| X | g.154029920_154030687del | CA274838 | MECP2 | c.1146_*452del (n.[c.1146_*452del;Leu383ProfsTer?]) c.1182_*452del (n.[c.1182_*452del;Leu395ProfsTer?]) c.1146_*379del c.867_*452del (n.[c.867_*452del;Leu290ProfsTer?]) c.477_*452del (n.[c.477_*452del;Leu160ProfsTer?]) | ClinVar dbSNP |
| X | g.154030105_154030670delinsGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC | CA2466569917 | MECP2 | c.1158_*262delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC (n.[c.1158_*262delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC;Leu386=]) c.1194_*262delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC (n.[c.1194_*262delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC;Leu398=]) c.1158_*189delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC c.879_*262delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC (n.[c.879_*262delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC;Leu293=]) c.489_*262delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC (n.[c.489_*262delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTC;Leu163=]) | |
| X | g.154030108_154030672del | CA891862973 | MECP2 | c.1158_*261del (n.[c.1158_*261del;Pro387LeufsTer?]) c.1194_*261del (n.[c.1194_*261del;Pro399LeufsTer?]) c.1158_*188del c.879_*261del (n.[c.879_*261del;Pro294LeufsTer?]) c.489_*261del (n.[c.489_*261del;Pro164LeufsTer?]) | ClinVar dbSNP |
| X | g.154030241_154031021delinsAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGG | CA2466570003 | MECP2 | c.807_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.[c.807_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT;Gly269=]) c.843_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.[c.843_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT;Gly281=]) c.807_*53delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT c.*179_*959delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.*179_*959delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT) c.528_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.[c.528_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT;Gly176=]) c.138_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.[c.138_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT;Gly46=]) | |
| X | g.154030242_154031021del | CA235624 | MECP2 | c.807_*125del (n.[c.807_*125del;Arg270GlnfsTer2]) c.843_*125del (n.[c.843_*125del;Arg282GlnfsTer2]) c.807_*52del c.*179_*958del (n.*179_*958del) c.528_*125del (n.[c.528_*125del;Arg177GlnfsTer2]) c.138_*125del (n.[c.138_*125del;Arg47GlnfsTer2]) | ClinVar dbSNP |
| X | g.154030249_154030670delinsAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC | CA2466570009 | MECP2 | c.1158_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.[c.1158_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT;Leu386=]) c.1194_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.[c.1194_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT;Leu398=]) c.1158_*45delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT c.*530_*951delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.*530_*951delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT) c.879_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.[c.879_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT;Leu293=]) c.489_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.[c.489_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT;Leu163=]) | |
| X | g.154030251_154030671del | CA277188 | MECP2 | c.1158_*117del (n.[c.1158_*117del;Pro387PhefsTer?]) c.1194_*117del (n.[c.1194_*117del;Pro399PhefsTer?]) c.1158_*44del c.*530_*950del (n.*530_*950del) c.879_*117del (n.[c.879_*117del;Pro294PhefsTer?]) c.489_*117del (n.[c.489_*117del;Pro164PhefsTer?]) | ClinVar dbSNP |
| X | g.154030255_154037279delinsCACAAAGTG | CA274580 | MECP2 | c.27-4722_*112delinsCACTTTGTG c.63-4722_*112delinsCACTTTGTG c.27-4722_*39delinsCACTTTGTG c.27-4722_*945delinsCACTTTGTG c.-253-4722_*112delinsCACTTTGTG c.-254+2513_*112delinsCACTTTGTG c.-535+2513_*112delinsCACTTTGTG c.-534-4722_*112delinsCACTTTGTG | ClinVar |
| X | g.154030293_154030599del | CA2580101844 | MECP2 | c.1231_*76del (n.[c.1231_*76del;Val412AspfsTer?]) c.1267_*76del (n.[c.1267_*76del;Val424AspfsTer?]) c.1231_*3del c.*603_*909del (n.*603_*909del) c.952_*76del (n.[c.952_*76del;Val319AspfsTer?]) c.562_*76del (n.[c.562_*76del;Val189AspfsTer?]) | ClinVar |
| X | g.154030292C>A | CA10558409 | MECP2 | c.*75G>T (n.*75G>T) c.*2G>T (n.*2G>T) c.*908G>T (n.*908G>T) | dbSNP ExAC gnomAD v2 |
| X | g.154030292C= | CA2466570034 | MECP2 | c.*75G= (n.*75G=) c.*2G= (n.*2G=) c.*908G= (n.*908G=) | |
| X | g.154030292C>T | CA1138553597 | MECP2 | c.*75G>A (n.*75G>A) c.*2G>A (n.*2G>A) c.*908G>A (n.*908G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030294dup | CA1138553596 | MECP2 | c.*75dup (n.*75dup) c.*2dup (n.*2dup) c.*908dup (n.*908dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030293C>A | CA645289964 | MECP2 | c.*74G>T (n.*74G>T) c.*1G>T (n.*1G>T) c.*907G>T (n.*907G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154030293C= | CA2466570035 | MECP2 | c.*74G= (n.*74G=) c.*1G= (n.*1G=) c.*907G= (n.*907G=) | |
| X | g.154030293C>G | CA2579736028 | MECP2 | c.*74G>C (n.*74G>C) c.*1G>C (n.*1G>C) c.*907G>C (n.*907G>C) | |
| X | g.154030294C>A | CA415161577 | MECP2 | c.*73G>T (n.*73G>T) c.1530G>T (p.Ter510Tyr) c.*906G>T (n.*906G>T) | |
| X | g.154030294C= | CA2466570036 | MECP2 | c.*73G= (n.*73G=) c.1530G= (p.Ter510=) c.*906G= (n.*906G=) | |
| X | g.154030294C>G | CA10558410 | MECP2 | c.*73G>C (n.*73G>C) c.1530G>C (p.Ter510Tyr) c.*906G>C (n.*906G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030294C>T | CA2466570037 | MECP2 | c.*73G>A (n.*73G>A) c.1530G>A (p.Ter510=) c.*906G>A (n.*906G>A) | dbSNP |
| X | g.154030295T>A | CA415161591 | MECP2 | c.*72A>T (n.*72A>T) c.1529A>T (p.Ter510Leu) c.*905A>T (n.*905A>T) | |
| X | g.154030295T>C | CA415161586 | MECP2 | c.*72A>G (n.*72A>G) c.1529A>G (p.Ter510Trp) c.*905A>G (n.*905A>G) | gnomAD v4 |
| X | g.154030295T>G | CA415161624 | MECP2 | c.*72A>C (n.*72A>C) c.1529A>C (p.Ter510Ser) c.*905A>C (n.*905A>C) | |
| X | g.154030296A>C | CA415161636 | MECP2 | c.*71T>G (n.*71T>G) c.1528T>G (p.Ter510Glu) c.*904T>G (n.*904T>G) | |
| X | g.154030296A>G | CA415161638 | MECP2 | c.*71T>C (n.*71T>C) c.1528T>C (p.Ter510Gln) c.*904T>C (n.*904T>C) | gnomAD v4 |
| X | g.154030296A>T | CA415161642 | MECP2 | c.*71T>A (n.*71T>A) c.1528T>A (p.Ter510Lys) c.*904T>A (n.*904T>A) | |
| X | g.154030297C>A | CA2579736030 | MECP2 | c.*70G>T (n.*70G>T) c.1527G>T (p.Gly509=) c.*903G>T (n.*903G>T) | |
| X | g.154030297C= | CA2466570038 | MECP2 | c.*70G= (n.*70G=) c.1527G= (p.Gly509=) c.*903G= (n.*903G=) | |
| X | g.154030297C>G | CA2602677312 | MECP2 | c.*70G>C (n.*70G>C) c.1527G>C (p.Gly509=) c.*903G>C (n.*903G>C) | gnomAD v3 gnomAD v4 |
| X | g.154030297C>T | CA873291422 | MECP2 | c.*70G>A (n.*70G>A) c.1527G>A (p.Gly509=) c.*903G>A (n.*903G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030298C>A | CA415161644 | MECP2 | c.*69G>T (n.*69G>T) c.1526G>T (p.Gly509Val) c.*902G>T (n.*902G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030298C= | CA2466570039 | MECP2 | c.*69G= (n.*69G=) c.1526G= (p.Gly509=) c.*902G= (n.*902G=) | |
| X | g.154030298C>G | CA415161645 | MECP2 | c.*69G>C (n.*69G>C) c.1526G>C (p.Gly509Ala) c.*902G>C (n.*902G>C) | gnomAD v4 |
| X | g.154030298C>T | CA415161648 | MECP2 | c.*69G>A (n.*69G>A) c.1526G>A (p.Gly509Glu) c.*902G>A (n.*902G>A) | |
| X | g.154030299C>A | CA415161655 | MECP2 | c.*68G>T (n.*68G>T) c.1525G>T (p.Gly509Trp) c.*901G>T (n.*901G>T) | |
| X | g.154030299C= | CA2466570040 | MECP2 | c.*68G= (n.*68G=) c.1525G= (p.Gly509=) c.*901G= (n.*901G=) | |
| X | g.154030299C>G | CA415161664 | MECP2 | c.*68G>C (n.*68G>C) c.1525G>C (p.Gly509Arg) c.*901G>C (n.*901G>C) | dbSNP gnomAD v4 |
| X | g.154030299C>T | CA415161665 | MECP2 | c.*68G>A (n.*68G>A) c.1525G>A (p.Gly509Arg) c.*901G>A (n.*901G>A) | |
| X | g.154030300A>C | CA415161666 | MECP2 | c.*67T>G (n.*67T>G) c.1524T>G (p.Tyr508Ter) c.*900T>G (n.*900T>G) | |
| X | g.154030300A>T | CA415161667 | MECP2 | c.*67T>A (n.*67T>A) c.1524T>A (p.Tyr508Ter) c.*900T>A (n.*900T>A) | |
| X | g.154030301T>A | CA10558411 | MECP2 | c.*66A>T (n.*66A>T) c.1523A>T (p.Tyr508Phe) c.*899A>T (n.*899A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030301T>C | CA415161669 | MECP2 | c.*66A>G (n.*66A>G) c.1523A>G (p.Tyr508Cys) c.*899A>G (n.*899A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030301T>G | CA415161673 | MECP2 | c.*66A>C (n.*66A>C) c.1523A>C (p.Tyr508Ser) c.*899A>C (n.*899A>C) | |
| X | g.154030301T= | CA2466570041 | MECP2 | c.*66A= (n.*66A=) c.1523A= (p.Tyr508=) c.*899A= (n.*899A=) | |
| X | g.154030302A= | CA2466570042 | MECP2 | c.*65T= (n.*65T=) c.1522T= (p.Tyr508=) c.*898T= (n.*898T=) | |
| X | g.154030302A>C | CA415161678 | MECP2 | c.*65T>G (n.*65T>G) c.1522T>G (p.Tyr508Asp) c.*898T>G (n.*898T>G) | |
| X | g.154030302A>G | CA10558412 | MECP2 | c.*65T>C (n.*65T>C) c.1522T>C (p.Tyr508His) c.*898T>C (n.*898T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030302A>T | CA415161683 | MECP2 | c.*65T>A (n.*65T>A) c.1522T>A (p.Tyr508Asn) c.*898T>A (n.*898T>A) | |
| X | g.154030304G>A | CA415161693 | MECP2 | c.*63C>T (n.*63C>T) c.1520C>T (p.Pro507Leu) c.*896C>T (n.*896C>T) | |
| X | g.154030304G>C | CA415161694 | MECP2 | c.*63C>G (n.*63C>G) c.1520C>G (p.Pro507Arg) c.*896C>G (n.*896C>G) | |
| X | g.154030304G>T | CA415161695 | MECP2 | c.*63C>A (n.*63C>A) c.1520C>A (p.Pro507His) c.*896C>A (n.*896C>A) | gnomAD v4 |
| X | g.154030305G>A | CA10558413 | MECP2 | c.*62C>T (n.*62C>T) c.1519C>T (p.Pro507Ser) c.*895C>T (n.*895C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030305G>C | CA415161700 | MECP2 | c.*62C>G (n.*62C>G) c.1519C>G (p.Pro507Ala) c.*895C>G (n.*895C>G) | |
| X | g.154030305G= | CA2466570043 | MECP2 | c.*62C= (n.*62C=) c.1519C= (p.Pro507=) c.*895C= (n.*895C=) | |
| X | g.154030305G>T | CA415161701 | MECP2 | c.*62C>A (n.*62C>A) c.1519C>A (p.Pro507Thr) c.*895C>A (n.*895C>A) | gnomAD v4 |
| X | g.154030306A= | CA2466570044 | MECP2 | c.*61T= (n.*61T=) c.1518T= (p.Ser506=) c.*894T= (n.*894T=) | |
| X | g.154030306A>T | CA10558414 | MECP2 | c.*61T>A (n.*61T>A) c.1518T>A (p.Ser506=) c.*894T>A (n.*894T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030307G>A | CA415161716 | MECP2 | c.*60C>T (n.*60C>T) c.1517C>T (p.Ser506Phe) c.*893C>T (n.*893C>T) | |
| X | g.154030307G>C | CA415161713 | MECP2 | c.*60C>G (n.*60C>G) c.1517C>G (p.Ser506Cys) c.*893C>G (n.*893C>G) | gnomAD v4 |
| X | g.154030307G>T | CA415161710 | MECP2 | c.*60C>A (n.*60C>A) c.1517C>A (p.Ser506Tyr) c.*893C>A (n.*893C>A) | |
| X | g.154030308A>C | CA415161723 | MECP2 | c.*59T>G (n.*59T>G) c.1516T>G (p.Ser506Ala) c.*892T>G (n.*892T>G) | |
| X | g.154030308A>G | CA415161729 | MECP2 | c.*59T>C (n.*59T>C) c.1516T>C (p.Ser506Pro) c.*892T>C (n.*892T>C) | gnomAD v4 |
| X | g.154030308A>T | CA415161732 | MECP2 | c.*59T>A (n.*59T>A) c.1516T>A (p.Ser506Thr) c.*892T>A (n.*892T>A) | |
| X | g.154030310G>A | CA415161751 | MECP2 | c.*57C>T (n.*57C>T) c.1514C>T (p.Ser505Phe) c.*890C>T (n.*890C>T) | |
| X | g.154030310G>C | CA415161757 | MECP2 | c.*57C>G (n.*57C>G) c.1514C>G (p.Ser505Cys) c.*890C>G (n.*890C>G) | |
| X | g.154030310G>T | CA415161763 | MECP2 | c.*57C>A (n.*57C>A) c.1514C>A (p.Ser505Tyr) c.*890C>A (n.*890C>A) | |
| X | g.154030311A>C | CA415161766 | MECP2 | c.*56T>G (n.*56T>G) c.1513T>G (p.Ser505Ala) c.*889T>G (n.*889T>G) | |
| X | g.154030311A>G | CA415161775 | MECP2 | c.*56T>C (n.*56T>C) c.1513T>C (p.Ser505Pro) c.*889T>C (n.*889T>C) | |
| X | g.154030311A>T | CA415161777 | MECP2 | c.*56T>A (n.*56T>A) c.1513T>A (p.Ser505Thr) c.*889T>A (n.*889T>A) | |
| X | g.154030312G>C | CA170138 | MECP2 | c.*55C>G (n.*55C>G) c.1512C>G (p.Val504=) c.*888C>G (n.*888C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030312G= | CA2466570045 | MECP2 | c.*55C= (n.*55C=) c.1512C= (p.Val504=) c.*888C= (n.*888C=) | |
| X | g.154030313A>C | CA415161788 | MECP2 | c.*54T>G (n.*54T>G) c.1511T>G (p.Val504Gly) c.*887T>G (n.*887T>G) | |
| X | g.154030313A>G | CA415161794 | MECP2 | c.*54T>C (n.*54T>C) c.1511T>C (p.Val504Ala) c.*887T>C (n.*887T>C) | |
| X | g.154030313A>T | CA415161798 | MECP2 | c.*54T>A (n.*54T>A) c.1511T>A (p.Val504Asp) c.*887T>A (n.*887T>A) | |
| X | g.154030314C>A | CA415161804 | MECP2 | c.*53G>T (n.*53G>T) c.1510G>T (p.Val504Phe) c.*886G>T (n.*886G>T) | |
| X | g.154030314C= | CA2466570046 | MECP2 | c.*53G= (n.*53G=) c.1510G= (p.Val504=) c.*886G= (n.*886G=) | |
| X | g.154030314C>G | CA415161815 | MECP2 | c.*53G>C (n.*53G>C) c.1510G>C (p.Val504Leu) c.*886G>C (n.*886G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030314C>T | CA10558415 | MECP2 | c.*53G>A (n.*53G>A) c.1510G>A (p.Val504Ile) c.*886G>A (n.*886G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030315A= | CA2466570047 | MECP2 | c.*52T= (n.*52T=) c.1509T= (p.Val503=) c.*885T= (n.*885T=) | |
| X | g.154030315A>T | CA645289969 | MECP2 | c.*52T>A (n.*52T>A) c.1509T>A (p.Val503=) c.*885T>A (n.*885T>A) | dbSNP gnomAD v2 |
| X | g.154030316A>C | CA415161828 | MECP2 | c.*51T>G (n.*51T>G) c.1508T>G (p.Val503Gly) c.*884T>G (n.*884T>G) | |
| X | g.154030316A>G | CA415161833 | MECP2 | c.*51T>C (n.*51T>C) c.1508T>C (p.Val503Ala) c.*884T>C (n.*884T>C) | |
| X | g.154030316A>T | CA415161835 | MECP2 | c.*51T>A (n.*51T>A) c.1508T>A (p.Val503Asp) c.*884T>A (n.*884T>A) | |
| X | g.154030317C>A | CA415161838 | MECP2 | c.*50G>T (n.*50G>T) c.1507G>T (p.Val503Phe) c.*883G>T (n.*883G>T) | |
| X | g.154030317C>G | CA415161839 | MECP2 | c.*50G>C (n.*50G>C) c.1507G>C (p.Val503Leu) c.*883G>C (n.*883G>C) | |
| X | g.154030317C>T | CA415161844 | MECP2 | c.*50G>A (n.*50G>A) c.1507G>A (p.Val503Ile) c.*883G>A (n.*883G>A) | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154030319G>A | CA415161850 | MECP2 | c.*48C>T (n.*48C>T) c.1505C>T (p.Ala502Val) c.*881C>T (n.*881C>T) | |
| X | g.154030319G>C | CA415161851 | MECP2 | c.*48C>G (n.*48C>G) c.1505C>G (p.Ala502Gly) c.*881C>G (n.*881C>G) | |
| X | g.154030319G>T | CA415161852 | MECP2 | c.*48C>A (n.*48C>A) c.1505C>A (p.Ala502Asp) c.*881C>A (n.*881C>A) | |
| X | g.154030320C>A | CA415161869 | MECP2 | c.*47G>T (n.*47G>T) c.1504G>T (p.Ala502Ser) c.*880G>T (n.*880G>T) | |
| X | g.154030320C= | CA2466570048 | MECP2 | c.*47G= (n.*47G=) c.1504G= (p.Ala502=) c.*880G= (n.*880G=) | |
| X | g.154030320C>G | CA415161865 | MECP2 | c.*47G>C (n.*47G>C) c.1504G>C (p.Ala502Pro) c.*880G>C (n.*880G>C) | dbSNP gnomAD v4 |
| X | g.154030320C>T | CA415161856 | MECP2 | c.*47G>A (n.*47G>A) c.1504G>A (p.Ala502Thr) c.*880G>A (n.*880G>A) | |
| X | g.154030321T>C | CA2579736038 | MECP2 | c.*46A>G (n.*46A>G) c.1503A>G (p.Ala501=) c.*879A>G (n.*879A>G) | gnomAD v4 |
| X | g.154030322G>A | CA415161886 | MECP2 | c.*45C>T (n.*45C>T) c.1502C>T (p.Ala501Val) c.*878C>T (n.*878C>T) | gnomAD v4 |
| X | g.154030322G>C | CA415161888 | MECP2 | c.*45C>G (n.*45C>G) c.1502C>G (p.Ala501Gly) c.*878C>G (n.*878C>G) | |
| X | g.154030322G>T | CA415161890 | MECP2 | c.*45C>A (n.*45C>A) c.1502C>A (p.Ala501Glu) c.*878C>A (n.*878C>A) | |
| X | g.154030323C>A | CA415161895 | MECP2 | c.*44G>T (n.*44G>T) c.1501G>T (p.Ala501Ser) c.*877G>T (n.*877G>T) | gnomAD v4 |
| X | g.154030323C>G | CA415161898 | MECP2 | c.*44G>C (n.*44G>C) c.1501G>C (p.Ala501Pro) c.*877G>C (n.*877G>C) | |
| X | g.154030323C>T | CA415161899 | MECP2 | c.*44G>A (n.*44G>A) c.1501G>A (p.Ala501Thr) c.*877G>A (n.*877G>A) | |
| X | g.154030325_154031003del | CA273849 | MECP2 | c.827_*44del (n.[c.827_*44del;Val276AlafsTer10]) c.863_*44del (n.[c.863_*44del;Val288AlafsTer10]) c.827_1501del c.*199_*877del (n.*199_*877del) c.548_*44del (n.[c.548_*44del;Val183AlafsTer10]) c.158_*44del (n.[c.158_*44del;Val53AlafsTer10]) | |
| X | g.154030324C>A | CA415161906 | MECP2 | c.*43G>T (n.*43G>T) c.1500G>T (p.Lys500Asn) c.*876G>T (n.*876G>T) | |
| X | g.154030324C>G | CA415161907 | MECP2 | c.*43G>C (n.*43G>C) c.1500G>C (p.Lys500Asn) c.*876G>C (n.*876G>C) | |
| X | g.154030325T>A | CA415161915 | MECP2 | c.*42A>T (n.*42A>T) c.1499A>T (p.Lys500Met) c.*875A>T (n.*875A>T) | |
| X | g.154030325T>C | CA415161930 | MECP2 | c.*42A>G (n.*42A>G) c.1499A>G (p.Lys500Arg) c.*875A>G (n.*875A>G) | |
| X | g.154030325T>G | CA415161935 | MECP2 | c.*42A>C (n.*42A>C) c.1499A>C (p.Lys500Thr) c.*875A>C (n.*875A>C) | |
| X | g.154030327del | CA2579736042 | MECP2 | c.*42del (n.*42del) c.1499del (p.Lys500ArgfsTer19) c.*875del (n.*875del) | |
| X | g.154030326T>A | CA415161951 | MECP2 | c.*41A>T (n.*41A>T) c.1498A>T (p.Lys500Ter) c.*874A>T (n.*874A>T) | |
| X | g.154030326T>C | CA415161939 | MECP2 | c.*41A>G (n.*41A>G) c.1498A>G (p.Lys500Glu) c.*874A>G (n.*874A>G) | |
| X | g.154030326T>G | CA415161937 | MECP2 | c.*41A>C (n.*41A>C) c.1498A>C (p.Lys500Gln) c.*874A>C (n.*874A>C) | |
| X | g.154030327T>C | CA415161958 | MECP2 | c.*40A>G (n.*40A>G) c.1497A>G (p.Ile499Met) c.*873A>G (n.*873A>G) | |
| X | g.154030327_154030665delinsTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG | CA2466570049 | MECP2 | c.1163_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.[c.1163_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA;Pro388=]) c.1199_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.[c.1199_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA;Pro400=]) c.1163_1497delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA c.*535_*873delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.*535_*873delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA) c.884_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.[c.884_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA;Pro295=]) c.494_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.[c.494_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA;Pro165=]) | |
| X | g.154030328A= | CA2466570050 | MECP2 | c.*39T= (n.*39T=) c.1496T= (p.Ile499=) c.*872T= (n.*872T=) | |
| X | g.154030328A>C | CA415161962 | MECP2 | c.*39T>G (n.*39T>G) c.1496T>G (p.Ile499Arg) c.*872T>G (n.*872T>G) | |
| X | g.154030328A>G | CA415161963 | MECP2 | c.*39T>C (n.*39T>C) c.1496T>C (p.Ile499Thr) c.*872T>C (n.*872T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154030328A>T | CA415161966 | MECP2 | c.*39T>A (n.*39T>A) c.1496T>A (p.Ile499Lys) c.*872T>A (n.*872T>A) | dbSNP |
| X | g.154030328_154030665del | CA274572 | MECP2 | c.1163_*39del (n.[c.1163_*39del;Pro388GlnfsTer20]) c.1199_*39del (n.[c.1199_*39del;Pro400GlnfsTer20]) c.1163_1496del c.*535_*872del (n.*535_*872del) c.884_*39del (n.[c.884_*39del;Pro295GlnfsTer20]) c.494_*39del (n.[c.494_*39del;Pro165GlnfsTer20]) | ClinVar dbSNP |
| X | g.154030329T>A | CA415161994 | MECP2 | c.*38A>T (n.*38A>T) c.1495A>T (p.Ile499Leu) c.*871A>T (n.*871A>T) | |
| X | g.154030329T>C | CA415161997 | MECP2 | c.*38A>G (n.*38A>G) c.1495A>G (p.Ile499Val) c.*871A>G (n.*871A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030329T>G | CA415162011 | MECP2 | c.*38A>C (n.*38A>C) c.1495A>C (p.Ile499Leu) c.*871A>C (n.*871A>C) | |
| X | g.154030329T= | CA2466570051 | MECP2 | c.*38A= (n.*38A=) c.1495A= (p.Ile499=) c.*871A= (n.*871A=) | |
| X | g.154030330T>A | CA415162028 | MECP2 | c.*37A>T (n.*37A>T) c.1494A>T (p.Arg498Ser) c.*870A>T (n.*870A>T) | |
| X | g.154030330T>C | CA2695099457 | MECP2 | c.*37A>G (n.*37A>G) c.1494A>G (p.Arg498=) c.*870A>G (n.*870A>G) | gnomAD v4 |
| X | g.154030330T>G | CA415162033 | MECP2 | c.*37A>C (n.*37A>C) c.1494A>C (p.Arg498Ser) c.*870A>C (n.*870A>C) | |
| X | g.154030331C>A | CA415162035 | MECP2 | c.*36G>T (n.*36G>T) c.1493G>T (p.Arg498Ile) c.*869G>T (n.*869G>T) | gnomAD v4 |
| X | g.154030331C= | CA2466570052 | MECP2 | c.*36G= (n.*36G=) c.1493G= (p.Arg498=) c.*869G= (n.*869G=) | |
| X | g.154030331C>G | CA170125 | MECP2 | c.*36G>C (n.*36G>C) c.1493G>C (p.Arg498Thr) c.*869G>C (n.*869G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030331C>T | CA415162038 | MECP2 | c.*36G>A (n.*36G>A) c.1493G>A (p.Arg498Lys) c.*869G>A (n.*869G>A) | gnomAD v4 |
| X | g.154030332T>A | CA415162042 | MECP2 | c.*35A>T (n.*35A>T) c.1492A>T (p.Arg498Ter) c.*868A>T (n.*868A>T) | |
| X | g.154030332T>C | CA415162043 | MECP2 | c.*35A>G (n.*35A>G) c.1492A>G (p.Arg498Gly) c.*868A>G (n.*868A>G) | |
| X | g.154030332T>G | CA10558416 | MECP2 | c.*35A>C (n.*35A>C) c.1492A>C (p.Arg498=) c.*868A>C (n.*868A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030332T= | CA2466570053 | MECP2 | c.*35A= (n.*35A=) c.1492A= (p.Arg498=) c.*868A= (n.*868A=) | |
| X | g.154030335_154030337del | CA2695099476 | MECP2 | c.*33_*35del (n.*33_*35del) c.1490_1492del (p.Thr497del) c.*866_*868del (n.*866_*868del) | gnomAD v4 |
| X | g.154030333T= | CA2466570054 | MECP2 | c.*34A= (n.*34A=) c.1491A= (p.Thr497=) c.*867A= (n.*867A=) | |
| X | g.154030334G>A | CA415162050 | MECP2 | c.*33C>T (n.*33C>T) c.1490C>T (p.Thr497Ile) c.*866C>T (n.*866C>T) | |
| X | g.154030334G>C | CA415162052 | MECP2 | c.*33C>G (n.*33C>G) c.1490C>G (p.Thr497Arg) c.*866C>G (n.*866C>G) | |
| X | g.154030334G>T | CA415162071 | MECP2 | c.*33C>A (n.*33C>A) c.1490C>A (p.Thr497Lys) c.*866C>A (n.*866C>A) | gnomAD v4 |
| X | g.154030334_154030338dup | CA10558417 | MECP2 | c.*29_*33dup (n.*29_*33dup) c.1486_1490dup (p.Arg498GlnfsTer4) c.*862_*866dup (n.*862_*866dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030335T>A | CA415162093 | MECP2 | c.*32A>T (n.*32A>T) c.1489A>T (p.Thr497Ser) c.*865A>T (n.*865A>T) | |
| X | g.154030335T>C | CA415162095 | MECP2 | c.*32A>G (n.*32A>G) c.1489A>G (p.Thr497Ala) c.*865A>G (n.*865A>G) | gnomAD v4 |
| X | g.154030335T>G | CA415162096 | MECP2 | c.*32A>C (n.*32A>C) c.1489A>C (p.Thr497Pro) c.*865A>C (n.*865A>C) | |
| X | g.154030338_154030342del | CA2695099488 | MECP2 | c.*28_*32del (n.*28_*32del) c.1485_1489del (p.Lys495AsnfsTer17) c.*861_*865del (n.*861_*865del) | gnomAD v4 |
| X | g.154030337G>A | CA415162099 | MECP2 | c.*30C>T (n.*30C>T) c.1487C>T (p.Pro496Leu) c.*863C>T (n.*863C>T) | |
| X | g.154030337G>C | CA415162103 | MECP2 | c.*30C>G (n.*30C>G) c.1487C>G (p.Pro496Arg) c.*863C>G (n.*863C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030337G= | CA2466570056 | MECP2 | c.*30C= (n.*30C=) c.1487C= (p.Pro496=) c.*863C= (n.*863C=) | |
| X | g.154030337G>T | CA415162107 | MECP2 | c.*30C>A (n.*30C>A) c.1487C>A (p.Pro496Gln) c.*863C>A (n.*863C>A) | |
| X | g.154030337_154030380delinsGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCT | CA2466570055 | MECP2 | c.1448_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1448_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Glu483=]) c.1484_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1484_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Glu495=]) c.1448_1487delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC c.*820_*863delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.*820_*863delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC) c.1169_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1169_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Glu390=]) c.779_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.779_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Glu260=]) | |
| X | g.154030337_154030676delinsGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT | CA2466570058 | MECP2 | c.1152_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1152_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Pro384=]) c.1188_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1188_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Pro396=]) c.1152_1487delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC c.*524_*863delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.*524_*863delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC) c.873_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.873_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Pro291=]) c.483_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.483_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Pro161=]) | |
| X | g.154030337_154030787delinsGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCC | CA2466570057 | MECP2 | c.1041_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1041_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Lys347=]) c.1077_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1077_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Lys359=]) c.1041_1487delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC c.*413_*863delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.*413_*863delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC) c.762_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.762_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Lys254=]) c.372_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.372_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Lys124=]) | |
| X | g.154030338G>A | CA415162155 | MECP2 | c.*29C>T (n.*29C>T) c.1486C>T (p.Pro496Ser) c.*862C>T (n.*862C>T) | |
| X | g.154030338G>C | CA415162136 | MECP2 | c.*29C>G (n.*29C>G) c.1486C>G (p.Pro496Ala) c.*862C>G (n.*862C>G) | |
| X | g.154030338G>T | CA415162123 | MECP2 | c.*29C>A (n.*29C>A) c.1486C>A (p.Pro496Thr) c.*862C>A (n.*862C>A) | gnomAD v4 |
| X | g.154030338_154030380del | CA232944 | MECP2 | c.1448_*29del (n.[c.1448_*29del;Glu483AlafsTer15]) c.1484_*29del (n.[c.1484_*29del;Glu495AlafsTer15]) c.1448_1486del c.*820_*862del (n.*820_*862del) c.1169_*29del (n.[c.1169_*29del;Glu390AlafsTer15]) c.779_*29del (n.[c.779_*29del;Glu260AlafsTer15]) | ClinVar dbSNP |
| X | g.154030339_154030677del | CA274567 | MECP2 | c.1152_*29del (n.[c.1152_*29del;Pro385AsnfsTer17]) c.1188_*29del (n.[c.1188_*29del;Pro397AsnfsTer17]) c.1152_1486del c.*524_*862del (n.*524_*862del) c.873_*29del (n.[c.873_*29del;Pro292AsnfsTer17]) c.483_*29del (n.[c.483_*29del;Pro162AsnfsTer17]) | ClinVar dbSNP |
| X | g.154030338_154030787del | CA235616 | MECP2 | c.1041_*29del (n.[c.1041_*29del;Lys347AsnfsTer18]) c.1077_*29del (n.[c.1077_*29del;Lys359AsnfsTer18]) c.1041_1486del c.*413_*862del (n.*413_*862del) c.762_*29del (n.[c.762_*29del;Lys254AsnfsTer18]) c.372_*29del (n.[c.372_*29del;Lys124AsnfsTer18]) | ClinVar dbSNP |
| X | g.154030339T>A | CA415162162 | MECP2 | c.*28A>T (n.*28A>T) c.1485A>T (p.Lys495Asn) c.*861A>T (n.*861A>T) | |
| X | g.154030339T>G | CA415162166 | MECP2 | c.*28A>C (n.*28A>C) c.1485A>C (p.Lys495Asn) c.*861A>C (n.*861A>C) | |
| X | g.154030340T>A | CA415162171 | MECP2 | c.*27A>T (n.*27A>T) c.1484A>T (p.Lys495Ile) c.*860A>T (n.*860A>T) | |
| X | g.154030340T>C | CA415162174 | MECP2 | c.*27A>G (n.*27A>G) c.1484A>G (p.Lys495Arg) c.*860A>G (n.*860A>G) | |
| X | g.154030340T>G | CA415162176 | MECP2 | c.*27A>C (n.*27A>C) c.1484A>C (p.Lys495Thr) c.*860A>C (n.*860A>C) | |
| X | g.154030341T>A | CA415162179 | MECP2 | c.*26A>T (n.*26A>T) c.1483A>T (p.Lys495Ter) c.*859A>T (n.*859A>T) | |
| X | g.154030341T>C | CA415162180 | MECP2 | c.*26A>G (n.*26A>G) c.1483A>G (p.Lys495Glu) c.*859A>G (n.*859A>G) | |
| X | g.154030341T>G | CA415162182 | MECP2 | c.*26A>C (n.*26A>C) c.1483A>C (p.Lys495Gln) c.*859A>C (n.*859A>C) | |
| X | g.154030342G>A | CA337261734 | MECP2 | c.*25C>T (n.*25C>T) c.1482C>T (p.Ser494=) c.*858C>T (n.*858C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030342G>C | CA415162216 | MECP2 | c.*25C>G (n.*25C>G) c.1482C>G (p.Ser494Arg) c.*858C>G (n.*858C>G) | gnomAD v4 |
| X | g.154030342G= | CA2466570059 | MECP2 | c.*25C= (n.*25C=) c.1482C= (p.Ser494=) c.*858C= (n.*858C=) | |
| X | g.154030342G>T | CA415162193 | MECP2 | c.*25C>A (n.*25C>A) c.1482C>A (p.Ser494Arg) c.*858C>A (n.*858C>A) | |
| X | g.154030342_154030378delinsGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCT | CA2466570060 | MECP2 | c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.[c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC;Arg484=]) c.1486_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.[c.1486_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC;Arg496=]) c.1449+1_1482delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC c.*822_*858delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.*822_*858delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC) c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.[c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC;Arg391=]) c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.[c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC;Arg261=]) | |
| X | g.154030343C>A | CA415162222 | MECP2 | c.*24G>T (n.*24G>T) c.1481G>T (p.Ser494Ile) c.*857G>T (n.*857G>T) | |
| X | g.154030343C= | CA2466570061 | MECP2 | c.*24G= (n.*24G=) c.1481G= (p.Ser494=) c.*857G= (n.*857G=) | |
| X | g.154030343C>G | CA415162226 | MECP2 | c.*24G>C (n.*24G>C) c.1481G>C (p.Ser494Thr) c.*857G>C (n.*857G>C) | |
| X | g.154030343C>T | CA415162224 | MECP2 | c.*24G>A (n.*24G>A) c.1481G>A (p.Ser494Asn) c.*857G>A (n.*857G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154030345_154030380del | CA658799885 | MECP2 | c.1450_*24del (n.[c.1450_*24del;Arg484GlnfsTer19]) c.1486_*24del (n.[c.1486_*24del;Arg496GlnfsTer19]) c.1449+1_1481del c.*822_*857del (n.*822_*857del) c.1171_*24del (n.[c.1171_*24del;Arg391GlnfsTer19]) c.781_*24del (n.[c.781_*24del;Arg261GlnfsTer19]) | ClinVar dbSNP |
| X | g.154030344T>A | CA415162232 | MECP2 | c.*23A>T (n.*23A>T) c.1480A>T (p.Ser494Cys) c.*856A>T (n.*856A>T) | |
| X | g.154030344T>C | CA415162242 | MECP2 | c.*23A>G (n.*23A>G) c.1480A>G (p.Ser494Gly) c.*856A>G (n.*856A>G) | gnomAD v4 |
| X | g.154030344T>G | CA415162237 | MECP2 | c.*23A>C (n.*23A>C) c.1480A>C (p.Ser494Arg) c.*856A>C (n.*856A>C) | |
| X | g.154030345T>A | CA415162246 | MECP2 | c.*22A>T (n.*22A>T) c.1479A>T (p.Gln493His) c.*855A>T (n.*855A>T) | |
| X | g.154030345T>C | CA2695099509 | MECP2 | c.*22A>G (n.*22A>G) c.1479A>G (p.Gln493=) c.*855A>G (n.*855A>G) | gnomAD v4 |
| X | g.154030345T>G | CA415162247 | MECP2 | c.*22A>C (n.*22A>C) c.1479A>C (p.Gln493His) c.*855A>C (n.*855A>C) | |
| X | g.154030346T>A | CA415162248 | MECP2 | c.*21A>T (n.*21A>T) c.1478A>T (p.Gln493Leu) c.*854A>T (n.*854A>T) | |
| X | g.154030346T>C | CA415162251 | MECP2 | c.*21A>G (n.*21A>G) c.1478A>G (p.Gln493Arg) c.*854A>G (n.*854A>G) | |
| X | g.154030346T>G | CA415162253 | MECP2 | c.*21A>C (n.*21A>C) c.1478A>C (p.Gln493Pro) c.*854A>C (n.*854A>C) | |
| X | g.154030347G>A | CA10558418 | MECP2 | c.*20C>T (n.*20C>T) c.1477C>T (p.Gln493Ter) c.*853C>T (n.*853C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030347G>C | CA337261735 | MECP2 | c.*20C>G (n.*20C>G) c.1477C>G (p.Gln493Glu) c.*853C>G (n.*853C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030347G= | CA2466570062 | MECP2 | c.*20C= (n.*20C=) c.1477C= (p.Gln493=) c.*853C= (n.*853C=) | |
| X | g.154030347G>T | CA415162263 | MECP2 | c.*20C>A (n.*20C>A) c.1477C>A (p.Gln493Lys) c.*853C>A (n.*853C>A) | |
| X | g.154030348C>A | CA415162264 | MECP2 | c.*19G>T (n.*19G>T) c.1476G>T (p.Leu492Phe) c.*852G>T (n.*852G>T) | dbSNP |
| X | g.154030348C= | CA2466570063 | MECP2 | c.*19G= (n.*19G=) c.1476G= (p.Leu492=) c.*852G= (n.*852G=) | |
| X | g.154030348C>G | CA415162266 | MECP2 | c.*19G>C (n.*19G>C) c.1476G>C (p.Leu492Phe) c.*852G>C (n.*852G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030348C>T | CA2695099512 | MECP2 | c.*19G>A (n.*19G>A) c.1476G>A (p.Leu492=) c.*852G>A (n.*852G>A) | gnomAD v4 |
| X | g.154030349A= | CA2466570064 | MECP2 | c.*18T= (n.*18T=) c.1475T= (p.Leu492=) c.*851T= (n.*851T=) | |
| X | g.154030349A>C | CA415162270 | MECP2 | c.*18T>G (n.*18T>G) c.1475T>G (p.Leu492Trp) c.*851T>G (n.*851T>G) | dbSNP |
| X | g.154030349A>G | CA415162273 | MECP2 | c.*18T>C (n.*18T>C) c.1475T>C (p.Leu492Ser) c.*851T>C (n.*851T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030349A>T | CA415162286 | MECP2 | c.*18T>A (n.*18T>A) c.1475T>A (p.Leu492Ter) c.*851T>A (n.*851T>A) | |
| X | g.154030350A>C | CA415162297 | MECP2 | c.*17T>G (n.*17T>G) c.1474T>G (p.Leu492Val) c.*850T>G (n.*850T>G) | |
| X | g.154030350A>G | CA2695099516 | MECP2 | c.*17T>C (n.*17T>C) c.1474T>C (p.Leu492=) c.*850T>C (n.*850T>C) | gnomAD v4 |
| X | g.154030350A>T | CA415162320 | MECP2 | c.*17T>A (n.*17T>A) c.1474T>A (p.Leu492Met) c.*850T>A (n.*850T>A) | |
| X | g.154030351T>C | CA16608785 | MECP2 | c.*16A>G (n.*16A>G) c.1473A>G (p.Gly491=) c.*849A>G (n.*849A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030351T= | CA2466570065 | MECP2 | c.*16A= (n.*16A=) c.1473A= (p.Gly491=) c.*849A= (n.*849A=) | |
| X | g.154030352C>A | CA415162333 | MECP2 | c.*15G>T (n.*15G>T) c.1472G>T (p.Gly491Val) c.*848G>T (n.*848G>T) | |
| X | g.154030352C= | CA2466570066 | MECP2 | c.*15G= (n.*15G=) c.1472G= (p.Gly491=) c.*848G= (n.*848G=) | |
| X | g.154030352C>G | CA415162339 | MECP2 | c.*15G>C (n.*15G>C) c.1472G>C (p.Gly491Ala) c.*848G>C (n.*848G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030352C>T | CA415162354 | MECP2 | c.*15G>A (n.*15G>A) c.1472G>A (p.Gly491Glu) c.*848G>A (n.*848G>A) | gnomAD v4 |
| X | g.154030353C>A | CA415162374 | MECP2 | c.*14G>T (n.*14G>T) c.1471G>T (p.Gly491Ter) c.*847G>T (n.*847G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030353C= | CA2466570068 | MECP2 | c.*14G= (n.*14G=) c.1471G= (p.Gly491=) c.*847G= (n.*847G=) | |
| X | g.154030353C>G | CA415162376 | MECP2 | c.*14G>C (n.*14G>C) c.1471G>C (p.Gly491Arg) c.*847G>C (n.*847G>C) | |
| X | g.154030353C>T | CA222800 | MECP2 | c.*14G>A (n.*14G>A) c.1471G>A (p.Gly491Arg) c.*847G>A (n.*847G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154030353_154030731delinsCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGT | CA2466570067 | MECP2 | c.1097_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.[c.1097_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG;His366=]) c.1133_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.[c.1133_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG;His378=]) c.1097_1471delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG c.*469_*847delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.*469_*847delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG) c.818_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.[c.818_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG;His273=]) c.428_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.[c.428_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG;His143=]) | |
| X | g.154030354G>A | CA10558419 | MECP2 | c.*13C>T (n.*13C>T) c.1470C>T (p.Ser490=) c.*846C>T (n.*846C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030354G>C | CA415162389 | MECP2 | c.*13C>G (n.*13C>G) c.1470C>G (p.Ser490Arg) c.*846C>G (n.*846C>G) | gnomAD v4 |
| X | g.154030354G= | CA2466570070 | MECP2 | c.*13C= (n.*13C=) c.1470C= (p.Ser490=) c.*846C= (n.*846C=) | |
| X | g.154030354G>T | CA415162391 | MECP2 | c.*13C>A (n.*13C>A) c.1470C>A (p.Ser490Arg) c.*846C>A (n.*846C>A) | |
| X | g.154030354_154030374delinsGCTCCGTGTAAAGTCAGCTAA | CA2466570071 | MECP2 | c.1454_*13delinsTTAGCTGACTTTACACGGAGC (n.[c.1454_*13delinsTTAGCTGACTTTACACGGAGC;Val485=]) c.1490_*13delinsTTAGCTGACTTTACACGGAGC (n.[c.1490_*13delinsTTAGCTGACTTTACACGGAGC;Val497=]) c.1450_1470delinsTTAGCTGACTTTACACGGAGC (p.Leu484=) c.*826_*846delinsTTAGCTGACTTTACACGGAGC (n.*826_*846delinsTTAGCTGACTTTACACGGAGC) c.1175_*13delinsTTAGCTGACTTTACACGGAGC (n.[c.1175_*13delinsTTAGCTGACTTTACACGGAGC;Val392=]) c.785_*13delinsTTAGCTGACTTTACACGGAGC (n.[c.785_*13delinsTTAGCTGACTTTACACGGAGC;Val262=]) | |
| X | g.154030354_154030378delinsGCTCCGTGTAAAGTCAGCTAACTCT | CA2466570069 | MECP2 | c.1450_*13delinsAGAGTTAGCTGACTTTACACGGAGC (n.[c.1450_*13delinsAGAGTTAGCTGACTTTACACGGAGC;Arg484=]) c.1486_*13delinsAGAGTTAGCTGACTTTACACGGAGC (n.[c.1486_*13delinsAGAGTTAGCTGACTTTACACGGAGC;Arg496=]) c.1449+1_1470delinsAGAGTTAGCTGACTTTACACGGAGC c.*822_*846delinsAGAGTTAGCTGACTTTACACGGAGC (n.*822_*846delinsAGAGTTAGCTGACTTTACACGGAGC) c.1171_*13delinsAGAGTTAGCTGACTTTACACGGAGC (n.[c.1171_*13delinsAGAGTTAGCTGACTTTACACGGAGC;Arg391=]) c.781_*13delinsAGAGTTAGCTGACTTTACACGGAGC (n.[c.781_*13delinsAGAGTTAGCTGACTTTACACGGAGC;Arg261=]) | |
| X | g.154030359_154030736del | CA274556 | MECP2 | c.1097_*13del (n.[c.1097_*13del;His366ArgfsTer23]) c.1133_*13del (n.[c.1133_*13del;His378ArgfsTer23]) c.1097_1470del c.*469_*846del (n.*469_*846del) c.818_*13del (n.[c.818_*13del;His273ArgfsTer23]) c.428_*13del (n.[c.428_*13del;His143ArgfsTer23]) | ClinVar dbSNP |
| X | g.154030355C>A | CA415162395 | MECP2 | c.*12G>T (n.*12G>T) c.1469G>T (p.Ser490Ile) c.*845G>T (n.*845G>T) | |
| X | g.154030355C= | CA2466570072 | MECP2 | c.*12G= (n.*12G=) c.1469G= (p.Ser490=) c.*845G= (n.*845G=) | |
| X | g.154030355C>G | CA415162409 | MECP2 | c.*12G>C (n.*12G>C) c.1469G>C (p.Ser490Thr) c.*845G>C (n.*845G>C) | |
| X | g.154030355C>T | CA10558420 | MECP2 | c.*12G>A (n.*12G>A) c.1469G>A (p.Ser490Asn) c.*845G>A (n.*845G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030358_154030377del | CA1139667867 | MECP2 | c.1454_*12del (n.[c.1454_*12del;Val485AlafsTer10]) c.1490_*12del (n.[c.1490_*12del;Val497AlafsTer10]) c.1450_1469del c.*826_*845del (n.*826_*845del) c.1175_*12del (n.[c.1175_*12del;Val392AlafsTer10]) c.785_*12del (n.[c.785_*12del;Val262AlafsTer10]) | ClinVar dbSNP |
| X | g.154030358_154030381del | CA270288 | MECP2 | c.1450_*12del (n.[c.1450_*12del;Val485IlefsTer22]) c.1486_*12del (n.[c.1486_*12del;Val497IlefsTer22]) c.1449+1_1469del c.*822_*845del (n.*822_*845del) c.1171_*12del (n.[c.1171_*12del;Val392IlefsTer22]) c.781_*12del (n.[c.781_*12del;Val262IlefsTer22]) | ClinVar dbSNP |
| X | g.154030356T>A | CA415162432 | MECP2 | c.*11A>T (n.*11A>T) c.1468A>T (p.Ser490Cys) c.*844A>T (n.*844A>T) | |
| X | g.154030356T>C | CA415162437 | MECP2 | c.*11A>G (n.*11A>G) c.1468A>G (p.Ser490Gly) c.*844A>G (n.*844A>G) | gnomAD v4 |
| X | g.154030356T>G | CA415162440 | MECP2 | c.*11A>C (n.*11A>C) c.1468A>C (p.Ser490Arg) c.*844A>C (n.*844A>C) | |
| X | g.154030357C>A | CA10558422 | MECP2 | c.*10G>T (n.*10G>T) c.1467G>T (p.Arg489=) c.*843G>T (n.*843G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030357C= | CA2466570073 | MECP2 | c.*10G= (n.*10G=) c.1467G= (p.Arg489=) c.*843G= (n.*843G=) | |
| X | g.154030357C>G | CA2466570074 | MECP2 | c.*10G>C (n.*10G>C) c.1467G>C (p.Arg489=) c.*843G>C (n.*843G>C) | dbSNP gnomAD v4 |
| X | g.154030357C>T | CA10558421 | MECP2 | c.*10G>A (n.*10G>A) c.1467G>A (p.Arg489=) c.*843G>A (n.*843G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030358C>A | CA415162469 | MECP2 | c.*9G>T (n.*9G>T) c.1466G>T (p.Arg489Leu) c.*842G>T (n.*842G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154030358C= | CA2466570075 | MECP2 | c.*9G= (n.*9G=) c.1466G= (p.Arg489=) c.*842G= (n.*842G=) | |
| X | g.154030358C>G | CA415162470 | MECP2 | c.*9G>C (n.*9G>C) c.1466G>C (p.Arg489Pro) c.*842G>C (n.*842G>C) | |
| X | g.154030358C>T | CA180179 | MECP2 | c.*9G>A (n.*9G>A) c.1466G>A (p.Arg489Gln) c.*842G>A (n.*842G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154030359G>A | CA170151 | MECP2 | c.*8C>T (n.*8C>T) c.1465C>T (p.Arg489Trp) c.*841C>T (n.*841C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154030359G>C | CA415162480 | MECP2 | c.*8C>G (n.*8C>G) c.1465C>G (p.Arg489Gly) c.*841C>G (n.*841C>G) | |
| X | g.154030359G= | CA2466570076 | MECP2 | c.*8C= (n.*8C=) c.1465C= (p.Arg489=) c.*841C= (n.*841C=) | |
| X | g.154030360T>C | CA2579736048 | MECP2 | c.*7A>G (n.*7A>G) c.1464A>G (p.Thr488=) c.*840A>G (n.*840A>G) | |
| X | g.154030361G>A | CA415162483 | MECP2 | c.*6C>T (n.*6C>T) c.1463C>T (p.Thr488Ile) c.*839C>T (n.*839C>T) | |
| X | g.154030361G>C | CA415162501 | MECP2 | c.*6C>G (n.*6C>G) c.1463C>G (p.Thr488Arg) c.*839C>G (n.*839C>G) | |
| X | g.154030361G>T | CA415162495 | MECP2 | c.*6C>A (n.*6C>A) c.1463C>A (p.Thr488Lys) c.*839C>A (n.*839C>A) | gnomAD v4 |
| X | g.154030362_154030656del | CA2573055149 | MECP2 | c.1173_*6del (n.[c.1173_*6del;Glu392ArgfsTer22]) c.1209_*6del (n.[c.1209_*6del;Glu404ArgfsTer22]) c.1173_1463del c.*545_*839del (n.*545_*839del) c.894_*6del (n.[c.894_*6del;Glu299ArgfsTer22]) c.504_*6del (n.[c.504_*6del;Glu169ArgfsTer22]) | ClinVar dbSNP |
| X | g.154030362T>A | CA10558423 | MECP2 | c.*5A>T (n.*5A>T) c.1462A>T (p.Thr488Ser) c.*838A>T (n.*838A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030362T>C | CA415162537 | MECP2 | c.*5A>G (n.*5A>G) c.1462A>G (p.Thr488Ala) c.*838A>G (n.*838A>G) | |
| X | g.154030362T>G | CA415162540 | MECP2 | c.*5A>C (n.*5A>C) c.1462A>C (p.Thr488Pro) c.*838A>C (n.*838A>C) | |
| X | g.154030362T= | CA2466570077 | MECP2 | c.*5A= (n.*5A=) c.1462A= (p.Thr488=) c.*838A= (n.*838A=) | |
| X | g.154030363A= | CA2466570078 | MECP2 | c.*4T= (n.*4T=) c.1461T= (p.Phe487=) c.*837T= (n.*837T=) | |
| X | g.154030363A>C | CA415162546 | MECP2 | c.*4T>G (n.*4T>G) c.1461T>G (p.Phe487Leu) c.*837T>G (n.*837T>G) | |
| X | g.154030363A>G | CA10558424 | MECP2 | c.*4T>C (n.*4T>C) c.1461T>C (p.Phe487=) c.*837T>C (n.*837T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030363A>T | CA415162563 | MECP2 | c.*4T>A (n.*4T>A) c.1461T>A (p.Phe487Leu) c.*837T>A (n.*837T>A) | gnomAD v4 |
| X | g.154030364_154030365del | CA2695099582 | MECP2 | c.*3_*4del (n.*3_*4del) c.1460_1461del (p.Phe487TyrfsTer26) c.*836_*837del (n.*836_*837del) | gnomAD v4 |
| X | g.154030364A>C | CA415162566 | MECP2 | c.*3T>G (n.*3T>G) c.1460T>G (p.Phe487Cys) c.*836T>G (n.*836T>G) | |
| X | g.154030364A>G | CA415162568 | MECP2 | c.*3T>C (n.*3T>C) c.1460T>C (p.Phe487Ser) c.*836T>C (n.*836T>C) | |
| X | g.154030364A>T | CA415162569 | MECP2 | c.*3T>A (n.*3T>A) c.1460T>A (p.Phe487Tyr) c.*836T>A (n.*836T>A) | |
| X | g.154030365A>C | CA415162579 | MECP2 | c.*2T>G (n.*2T>G) c.1459T>G (p.Phe487Val) c.*835T>G (n.*835T>G) | |
| X | g.154030365A>G | CA415162581 | MECP2 | c.*2T>C (n.*2T>C) c.1459T>C (p.Phe487Leu) c.*835T>C (n.*835T>C) | |
| X | g.154030365A>T | CA415162573 | MECP2 | c.*2T>A (n.*2T>A) c.1459T>A (p.Phe487Ile) c.*835T>A (n.*835T>A) | |
| X | g.154030366G>C | CA10558425 | MECP2 | c.*1C>G (n.*1C>G) c.1458C>G (p.Asp486Glu) c.*834C>G (n.*834C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030366G= | CA2466570079 | MECP2 | c.*1C= (n.*1C=) c.1458C= (p.Asp486=) c.*834C= (n.*834C=) | |
| X | g.154030366G>T | CA415162588 | MECP2 | c.*1C>A (n.*1C>A) c.1458C>A (p.Asp486Glu) c.*834C>A (n.*834C>A) | |
| X | g.154030367T>A | CA415162601 | MECP2 | c.1461A>T (p.Ter487Cys) c.1497A>T (p.Ter499Cys) c.1457A>T (p.Asp486Val) c.*833A>T (n.*833A>T) c.1182A>T (p.Ter394Cys) c.792A>T (p.Ter264Cys) | |
| X | g.154030367T>C | CA170257 | MECP2 | c.1461A>G (p.Ter487Trp) c.1497A>G (p.Ter499Trp) c.1457A>G (p.Asp486Gly) c.*833A>G (n.*833A>G) c.1182A>G (p.Ter394Trp) c.792A>G (p.Ter264Trp) | ClinVar dbSNP |
| X | g.154030367T>G | CA270292 | MECP2 | c.1461A>C (p.Ter487Cys) c.1497A>C (p.Ter499Cys) c.1457A>C (p.Asp486Ala) c.*833A>C (n.*833A>C) c.1182A>C (p.Ter394Cys) c.792A>C (p.Ter264Cys) | ClinVar dbSNP |
| X | g.154030367T= | CA2466570080 | MECP2 | c.1461A= (p.Ter487=) c.1497A= (p.Ter499=) c.1457A= (p.Asp486=) c.*833A= (n.*833A=) c.1182A= (p.Ter394=) c.792A= (p.Ter264=) | |
| X | g.154030367_154031450del | CA274586 | MECP2 | c.378_1461del (p.Pro127PhefsTer24) c.414_1497del (p.Pro139PhefsTer24) c.378_1457del c.378_*833del c.99_1182del (p.Pro34PhefsTer24) c.-183_792del | ClinVar |
| X | g.154030368C>A | CA232951 | MECP2 | c.1460G>T (p.Ter487Leu) c.1496G>T (p.Ter499Leu) c.1456G>T (p.Asp486Tyr) c.*832G>T (n.*832G>T) c.1181G>T (p.Ter394Leu) c.791G>T (p.Ter264Leu) | ClinVar dbSNP |
| X | g.154030368C= | CA2466570081 | MECP2 | c.1460G= (p.Ter487=) c.1496G= (p.Ter499=) c.1456G= (p.Asp486=) c.*832G= (n.*832G=) c.1181G= (p.Ter394=) c.791G= (p.Ter264=) | |
| X | g.154030368C>G | CA415162633 | MECP2 | c.1460G>C (p.Ter487Ser) c.1496G>C (p.Ter499Ser) c.1456G>C (p.Asp486His) c.*832G>C (n.*832G>C) c.1181G>C (p.Ter394Ser) c.791G>C (p.Ter264Ser) | ClinVar dbSNP |
| X | g.154030368C>T | CA415162637 | MECP2 | c.1460G>A (p.Ter487=) c.1496G>A (p.Ter499=) c.1456G>A (p.Asp486Asn) c.*832G>A (n.*832G>A) c.1181G>A (p.Ter394=) c.791G>A (p.Ter264=) | gnomAD v4 |
| X | g.154030369A= | CA2466570083 | MECP2 | c.1459T= (p.Ter487=) c.1495T= (p.Ter499=) c.1455T= (p.Ala485=) c.*831T= (n.*831T=) c.1180T= (p.Ter394=) c.790T= (p.Ter264=) | |
| X | g.154030369A>C | CA415162642 | MECP2 | c.1459T>G (p.Ter487Gly) c.1495T>G (p.Ter499Gly) c.1455T>G (p.Ala485=) c.*831T>G (n.*831T>G) c.1180T>G (p.Ter394Gly) c.790T>G (p.Ter264Gly) | |
| X | g.154030369A>G | CA232948 | MECP2 | c.1459T>C (p.Ter487Arg) c.1495T>C (p.Ter499Arg) c.1455T>C (p.Ala485=) c.*831T>C (n.*831T>C) c.1180T>C (p.Ter394Arg) c.790T>C (p.Ter264Arg) | ClinVar dbSNP |
| X | g.154030369A>T | CA415162673 | MECP2 | c.1459T>A (p.Ter487Arg) c.1495T>A (p.Ter499Arg) c.1455T>A (p.Ala485=) c.*831T>A (n.*831T>A) c.1180T>A (p.Ter394Arg) c.790T>A (p.Ter264Arg) | |
| X | g.154030369_154030669delinsAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG | CA2466570082 | MECP2 | c.1159_1459delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (p.Pro387=) c.1195_1495delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (p.Pro399=) c.1159_1455delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT c.*531_*831delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (n.*531_*831delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT) c.880_1180delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (p.Pro294=) c.490_790delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (p.Pro164=) | |
| X | g.154030370G>A | CA415162715 | MECP2 | c.1458C>T (p.Ser486=) c.1494C>T (p.Ser498=) c.1454C>T (p.Ala485Val) c.*830C>T (n.*830C>T) c.1179C>T (p.Ser393=) c.789C>T (p.Ser263=) | gnomAD v4 |
| X | g.154030370G>C | CA415162712 | MECP2 | c.1458C>G (p.Ser486Arg) c.1494C>G (p.Ser498Arg) c.1454C>G (p.Ala485Gly) c.*830C>G (n.*830C>G) c.1179C>G (p.Ser393Arg) c.789C>G (p.Ser263Arg) | |
| X | g.154030370G>T | CA415162682 | MECP2 | c.1458C>A (p.Ser486Arg) c.1494C>A (p.Ser498Arg) c.1454C>A (p.Ala485Asp) c.*830C>A (n.*830C>A) c.1179C>A (p.Ser393Arg) c.789C>A (p.Ser263Arg) | |
| X | g.154030370_154030374delinsGCTAA | CA2466570084 | MECP2 | c.1454_1458delinsTTAGC (p.Val485=) c.1490_1494delinsTTAGC (p.Val497=) c.1450_1454delinsTTAGC (p.Leu484=) c.*826_*830delinsTTAGC (n.*826_*830delinsTTAGC) c.1175_1179delinsTTAGC (p.Val392=) c.785_789delinsTTAGC (p.Val262=) | |
| X | g.154030370_154030669del | CA274569 | MECP2 | c.1159_1458del (p.Pro387_Ser486del) c.1195_1494del (p.Pro399_Ser498del) c.1159_1454del c.*531_*830del (n.*531_*830del) c.880_1179del (p.Pro294_Ser393del) c.490_789del (p.Pro164_Ser263del) | ClinVar dbSNP |
| X | g.154030371C>A | CA415162722 | MECP2 | c.1457G>T (p.Ser486Ile) c.1493G>T (p.Ser498Ile) c.1453G>T (p.Ala485Ser) c.*829G>T (n.*829G>T) c.1178G>T (p.Ser393Ile) c.788G>T (p.Ser263Ile) | |
| X | g.154030371C= | CA2466570085 | MECP2 | c.1457G= (p.Ser486=) c.1493G= (p.Ser498=) c.1453G= (p.Ala485=) c.*829G= (n.*829G=) c.1178G= (p.Ser393=) c.788G= (p.Ser263=) | |
| X | g.154030371C>G | CA415162731 | MECP2 | c.1457G>C (p.Ser486Thr) c.1493G>C (p.Ser498Thr) c.1453G>C (p.Ala485Pro) c.*829G>C (n.*829G>C) c.1178G>C (p.Ser393Thr) c.788G>C (p.Ser263Thr) | gnomAD v4 |
| X | g.154030371C>T | CA415162738 | MECP2 | c.1457G>A (p.Ser486Asn) c.1493G>A (p.Ser498Asn) c.1453G>A (p.Ala485Thr) c.*829G>A (n.*829G>A) c.1178G>A (p.Ser393Asn) c.788G>A (p.Ser263Asn) | |
| X | g.154030373_154030376del | CA273848 | MECP2 | c.1454_1457del (p.Val485AlafsTer26) c.1490_1493del (p.Val497AlafsTer26) c.1450_1453del c.*826_*829del (n.*826_*829del) c.1175_1178del (p.Val392AlafsTer26) c.785_788del (p.Val262AlafsTer26) | ClinVar dbSNP |
| X | g.154030372T>A | CA415162761 | MECP2 | c.1456A>T (p.Ser486Cys) c.1492A>T (p.Ser498Cys) c.1452A>T (p.Leu484Phe) c.*828A>T (n.*828A>T) c.1177A>T (p.Ser393Cys) c.787A>T (p.Ser263Cys) | |
| X | g.154030372T>C | CA415162767 | MECP2 | c.1456A>G (p.Ser486Gly) c.1492A>G (p.Ser498Gly) c.1452A>G (p.Leu484=) c.*828A>G (n.*828A>G) c.1177A>G (p.Ser393Gly) c.787A>G (p.Ser263Gly) | |
| X | g.154030372T>G | CA415162772 | MECP2 | c.1456A>C (p.Ser486Arg) c.1492A>C (p.Ser498Arg) c.1452A>C (p.Leu484Phe) c.*828A>C (n.*828A>C) c.1177A>C (p.Ser393Arg) c.787A>C (p.Ser263Arg) | COSMIC |
| X | g.154030372_154030373dup | CA270291 | MECP2 | c.1455_1456dup (p.Ser486IlefsTer27) c.1491_1492dup (p.Ser498IlefsTer27) c.1451_1452dup (p.Ala485Ter) c.*827_*828dup (n.*827_*828dup) c.1176_1177dup (p.Ser393IlefsTer27) c.786_787dup (p.Ser263IlefsTer27) | ClinVar dbSNP |
| X | g.154030373_154030576del | CA273844 | MECP2 | c.1253_1456del (p.Met418_Val485del) c.1289_1492del (p.Met430_Val497del) c.1253_1452del c.*625_*828del (n.*625_*828del) c.974_1177del (p.Met325_Val392del) c.584_787del (p.Met195_Val262del) | |
| X | g.154030373A>C | CA415162794 | MECP2 | c.1455T>G (p.Val485=) c.1491T>G (p.Val497=) c.1451T>G (p.Leu484Ter) c.*827T>G (n.*827T>G) c.1176T>G (p.Val392=) c.786T>G (p.Val262=) | |
| X | g.154030373A>G | CA415162783 | MECP2 | c.1455T>C (p.Val485=) c.1491T>C (p.Val497=) c.1451T>C (p.Leu484Ser) c.*827T>C (n.*827T>C) c.1176T>C (p.Val392=) c.786T>C (p.Val262=) | |
| X | g.154030373A>T | CA415162779 | MECP2 | c.1455T>A (p.Val485=) c.1491T>A (p.Val497=) c.1451T>A (p.Leu484Ter) c.*827T>A (n.*827T>A) c.1176T>A (p.Val392=) c.786T>A (p.Val262=) | |
| X | g.154030374A>C | CA415162801 | MECP2 | c.1454T>G (p.Val485Gly) c.1490T>G (p.Val497Gly) c.1450T>G (p.Leu484Val) c.*826T>G (n.*826T>G) c.1175T>G (p.Val392Gly) c.785T>G (p.Val262Gly) | |
| X | g.154030374A>G | CA415162803 | MECP2 | c.1454T>C (p.Val485Ala) c.1490T>C (p.Val497Ala) c.1450T>C (p.Leu484=) c.*826T>C (n.*826T>C) c.1175T>C (p.Val392Ala) c.785T>C (p.Val262Ala) | |
| X | g.154030374A>T | CA415162805 | MECP2 | c.1454T>A (p.Val485Asp) c.1490T>A (p.Val497Asp) c.1450T>A (p.Leu484Ile) c.*826T>A (n.*826T>A) c.1175T>A (p.Val392Asp) c.785T>A (p.Val262Asp) | gnomAD v3 gnomAD v4 |
| X | g.154030374_154030378delinsACTCT | CA2466570086 | MECP2 | c.1450_1454delinsAGAGT (p.Arg484=) c.1486_1490delinsAGAGT (p.Arg496=) c.1449+1_1450delinsAGAGT c.*822_*826delinsAGAGT (n.*822_*826delinsAGAGT) c.1171_1175delinsAGAGT (p.Arg391=) c.781_785delinsAGAGT (p.Arg261=) | |
| X | g.154030375C>A | CA415162818 | MECP2 | c.1453G>T (p.Val485Phe) c.1489G>T (p.Val497Phe) c.1450-1G>T (n.1450-1G>T) c.*825G>T (n.*825G>T) c.1174G>T (p.Val392Phe) c.784G>T (p.Val262Phe) | |
| X | g.154030375C= | CA2466570087 | MECP2 | c.1453G= (p.Val485=) c.1489G= (p.Val497=) c.1450-1G= (n.1450-1G=) c.*825G= (n.*825G=) c.1174G= (p.Val392=) c.784G= (p.Val262=) | |
| X | g.154030375C>G | CA10558426 | MECP2 | c.1453G>C (p.Val485Leu) c.1489G>C (p.Val497Leu) c.1450-1G>C (n.1450-1G>C) c.*825G>C (n.*825G>C) c.1174G>C (p.Val392Leu) c.784G>C (p.Val262Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030375C>T | CA415162824 | MECP2 | c.1453G>A (p.Val485Ile) c.1489G>A (p.Val497Ile) c.1450-1G>A (n.1450-1G>A) c.*825G>A (n.*825G>A) c.1174G>A (p.Val392Ile) c.784G>A (p.Val262Ile) | |
| X | g.154030380_154030381dup | CA270290 | MECP2 | c.1452_1453dup (p.Val485GlufsTer28) c.1488_1489dup (p.Val497GlufsTer28) c.1450-2_1450-1dup c.*824_*825dup (n.*824_*825dup) c.1173_1174dup (p.Val392GlufsTer28) c.783_784dup (p.Val262GlufsTer28) | ClinVar dbSNP |
| X | g.154030380_154030381del | CA2695099617 | MECP2 | c.1452_1453del (p.Arg484SerfsTer2) c.1488_1489del (p.Arg496SerfsTer2) c.1450-2_1450-1del c.*824_*825del (n.*824_*825del) c.1173_1174del (p.Arg391SerfsTer2) c.783_784del (p.Arg261SerfsTer2) | gnomAD v4 |
| X | g.154030378_154030381del | CA270289 | MECP2 | c.1450_1453del (p.Arg484LeufsTer27) c.1486_1489del (p.Arg496LeufsTer27) c.1449+1_1450-1del c.*822_*825del (n.*822_*825del) c.1171_1174del (p.Arg391LeufsTer27) c.781_784del (p.Arg261LeufsTer27) | ClinVar dbSNP |
| X | g.154030376T>A | CA415162828 | MECP2 | c.1452A>T (p.Arg484Ser) c.1488A>T (p.Arg496Ser) c.1450-2A>T (n.1450-2A>T) c.*824A>T (n.*824A>T) c.1173A>T (p.Arg391Ser) c.783A>T (p.Arg261Ser) | |
| X | g.154030376T>C | CA415162829 | MECP2 | c.1452A>G (p.Arg484=) c.1488A>G (p.Arg496=) c.1450-2A>G (n.1450-2A>G) c.*824A>G (n.*824A>G) c.1173A>G (p.Arg391=) c.783A>G (p.Arg261=) | dbSNP |
| X | g.154030376T>G | CA415162833 | MECP2 | c.1452A>C (p.Arg484Ser) c.1488A>C (p.Arg496Ser) c.1450-2A>C (n.1450-2A>C) c.*824A>C (n.*824A>C) c.1173A>C (p.Arg391Ser) c.783A>C (p.Arg261Ser) | |
| X | g.154030376T= | CA2466570088 | MECP2 | c.1452A= (p.Arg484=) c.1488A= (p.Arg496=) c.1450-2A= (n.1450-2A=) c.*824A= (n.*824A=) c.1173A= (p.Arg391=) c.783A= (p.Arg261=) | |
| X | g.154030377C>A | CA415162859 | MECP2 | c.1451G>T (p.Arg484Ile) c.1487G>T (p.Arg496Ile) c.1450-3G>T (n.1450-3G>T) c.*823G>T (n.*823G>T) c.1172G>T (p.Arg391Ile) c.782G>T (p.Arg261Ile) | |
| X | g.154030377C= | CA2466570089 | MECP2 | c.1451G= (p.Arg484=) c.1487G= (p.Arg496=) c.1450-3G= (n.1450-3G=) c.*823G= (n.*823G=) c.1172G= (p.Arg391=) c.782G= (p.Arg261=) | |
| X | g.154030377C>G | CA172565 | MECP2 | c.1451G>C (p.Arg484Thr) c.1487G>C (p.Arg496Thr) c.1450-3G>C (n.1450-3G>C) c.*823G>C (n.*823G>C) c.1172G>C (p.Arg391Thr) c.782G>C (p.Arg261Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030377C>T | CA415162857 | MECP2 | c.1451G>A (p.Arg484Lys) c.1487G>A (p.Arg496Lys) c.1450-3G>A (n.1450-3G>A) c.*823G>A (n.*823G>A) c.1172G>A (p.Arg391Lys) c.782G>A (p.Arg261Lys) | |
| X | g.154030378T>A | CA415162863 | MECP2 | c.1450A>T (p.Arg484Ter) c.1486A>T (p.Arg496Ter) c.1449+1A>T (n.1449+1A>T) c.*822A>T (n.*822A>T) c.1171A>T (p.Arg391Ter) c.781A>T (p.Arg261Ter) | |
| X | g.154030378T>C | CA415162868 | MECP2 | c.1450A>G (p.Arg484Gly) c.1486A>G (p.Arg496Gly) c.1449+1A>G (n.1449+1A>G) c.*822A>G (n.*822A>G) c.1171A>G (p.Arg391Gly) c.781A>G (p.Arg261Gly) | |
| X | g.154030378T>G | CA415162872 | MECP2 | c.1450A>C (p.Arg484=) c.1486A>C (p.Arg496=) c.1449+1A>C (n.1449+1A>C) c.*822A>C (n.*822A>C) c.1171A>C (p.Arg391=) c.781A>C (p.Arg261=) | |
| X | g.154030379C>A | CA415162879 | MECP2 | c.1449G>T (p.Glu483Asp) c.1485G>T (p.Glu495Asp) c.*821G>T (n.*821G>T) c.1170G>T (p.Glu390Asp) c.780G>T (p.Glu260Asp) | |
| X | g.154030379C= | CA2466570090 | MECP2 | c.1449G= (p.Glu483=) c.1485G= (p.Glu495=) c.*821G= (n.*821G=) c.1170G= (p.Glu390=) c.780G= (p.Glu260=) | |
| X | g.154030379C>G | CA232945 | MECP2 | c.1449G>C (p.Glu483Asp) c.1485G>C (p.Glu495Asp) c.*821G>C (n.*821G>C) c.1170G>C (p.Glu390Asp) c.780G>C (p.Glu260Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030379C>T | CA519704513 | MECP2 | c.1449G>A (p.Glu483=) c.1485G>A (p.Glu495=) c.*821G>A (n.*821G>A) c.1170G>A (p.Glu390=) c.780G>A (p.Glu260=) | ClinVar |
| X | g.154030380T>A | CA415162892 | MECP2 | c.1448A>T (p.Glu483Val) c.1484A>T (p.Glu495Val) c.*820A>T (n.*820A>T) c.1169A>T (p.Glu390Val) c.779A>T (p.Glu260Val) | |
| X | g.154030380T>C | CA415162893 | MECP2 | c.1448A>G (p.Glu483Gly) c.1484A>G (p.Glu495Gly) c.*820A>G (n.*820A>G) c.1169A>G (p.Glu390Gly) c.779A>G (p.Glu260Gly) | |
| X | g.154030380T>G | CA415162932 | MECP2 | c.1448A>C (p.Glu483Ala) c.1484A>C (p.Glu495Ala) c.*820A>C (n.*820A>C) c.1169A>C (p.Glu390Ala) c.779A>C (p.Glu260Ala) | |
| X | g.154030381C>A | CA156430 | MECP2 | c.1447G>T (p.Glu483Ter) c.1483G>T (p.Glu495Ter) c.*819G>T (n.*819G>T) c.1168G>T (p.Glu390Ter) c.778G>T (p.Glu260Ter) | ClinVar dbSNP gnomAD v2 |
| X | g.154030381C= | CA2466570091 | MECP2 | c.1447G= (p.Glu483=) c.1483G= (p.Glu495=) c.*819G= (n.*819G=) c.1168G= (p.Glu390=) c.778G= (p.Glu260=) | |
| X | g.154030381C>G | CA415162937 | MECP2 | c.1447G>C (p.Glu483Gln) c.1483G>C (p.Glu495Gln) c.*819G>C (n.*819G>C) c.1168G>C (p.Glu390Gln) c.778G>C (p.Glu260Gln) | |
| X | g.154030381C>T | CA10603533 | MECP2 | c.1447G>A (p.Glu483Lys) c.1483G>A (p.Glu495Lys) c.*819G>A (n.*819G>A) c.1168G>A (p.Glu390Lys) c.778G>A (p.Glu260Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030382G>A | CA170254 | MECP2 | c.1446C>T (p.Thr482=) c.1482C>T (p.Thr494=) c.*818C>T (n.*818C>T) c.1167C>T (p.Thr389=) c.777C>T (p.Thr259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030382G>C | CA519704514 | MECP2 | c.1446C>G (p.Thr482=) c.1482C>G (p.Thr494=) c.*818C>G (n.*818C>G) c.1167C>G (p.Thr389=) c.777C>G (p.Thr259=) | dbSNP |
| X | g.154030382G= | CA2466570092 | MECP2 | c.1446C= (p.Thr482=) c.1482C= (p.Thr494=) c.*818C= (n.*818C=) c.1167C= (p.Thr389=) c.777C= (p.Thr259=) | |
| X | g.154030382G>T | CA519704515 | MECP2 | c.1446C>A (p.Thr482=) c.1482C>A (p.Thr494=) c.*818C>A (n.*818C>A) c.1167C>A (p.Thr389=) c.777C>A (p.Thr259=) | |
| X | g.154030383G>A | CA415162949 | MECP2 | c.1445C>T (p.Thr482Ile) c.1481C>T (p.Thr494Ile) c.*817C>T (n.*817C>T) c.1166C>T (p.Thr389Ile) c.776C>T (p.Thr259Ile) | gnomAD v4 |
| X | g.154030383G>C | CA415162945 | MECP2 | c.1445C>G (p.Thr482Ser) c.1481C>G (p.Thr494Ser) c.*817C>G (n.*817C>G) c.1166C>G (p.Thr389Ser) c.776C>G (p.Thr259Ser) | gnomAD v4 |
| X | g.154030383G>T | CA415162954 | MECP2 | c.1445C>A (p.Thr482Asn) c.1481C>A (p.Thr494Asn) c.*817C>A (n.*817C>A) c.1166C>A (p.Thr389Asn) c.776C>A (p.Thr259Asn) | |
| X | g.154030384T>A | CA415162967 | MECP2 | c.1444A>T (p.Thr482Ser) c.1480A>T (p.Thr494Ser) c.*816A>T (n.*816A>T) c.1165A>T (p.Thr389Ser) c.775A>T (p.Thr259Ser) | |
| X | g.154030384T>C | CA415162980 | MECP2 | c.1444A>G (p.Thr482Ala) c.1480A>G (p.Thr494Ala) c.*816A>G (n.*816A>G) c.1165A>G (p.Thr389Ala) c.775A>G (p.Thr259Ala) | |
| X | g.154030384T>G | CA415162973 | MECP2 | c.1444A>C (p.Thr482Pro) c.1480A>C (p.Thr494Pro) c.*816A>C (n.*816A>C) c.1165A>C (p.Thr389Pro) c.775A>C (p.Thr259Pro) | |
| X | g.154030385C>A | CA519704518 | MECP2 | c.1443G>T (p.Val481=) c.1479G>T (p.Val493=) c.*815G>T (n.*815G>T) c.1164G>T (p.Val388=) c.774G>T (p.Val258=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030385C= | CA2466570093 | MECP2 | c.1443G= (p.Val481=) c.1479G= (p.Val493=) c.*815G= (n.*815G=) c.1164G= (p.Val388=) c.774G= (p.Val258=) | |
| X | g.154030385C>G | CA519704516 | MECP2 | c.1443G>C (p.Val481=) c.1479G>C (p.Val493=) c.*815G>C (n.*815G>C) c.1164G>C (p.Val388=) c.774G>C (p.Val258=) | |
| X | g.154030385C>T | CA519704517 | MECP2 | c.1443G>A (p.Val481=) c.1479G>A (p.Val493=) c.*815G>A (n.*815G>A) c.1164G>A (p.Val388=) c.774G>A (p.Val258=) | ClinVar |
| X | g.154030386A>C | CA415162992 | MECP2 | c.1442T>G (p.Val481Gly) c.1478T>G (p.Val493Gly) c.*814T>G (n.*814T>G) c.1163T>G (p.Val388Gly) c.773T>G (p.Val258Gly) | |
| X | g.154030386A>G | CA415162998 | MECP2 | c.1442T>C (p.Val481Ala) c.1478T>C (p.Val493Ala) c.*814T>C (n.*814T>C) c.1163T>C (p.Val388Ala) c.773T>C (p.Val258Ala) | |
| X | g.154030386A>T | CA415163001 | MECP2 | c.1442T>A (p.Val481Glu) c.1478T>A (p.Val493Glu) c.*814T>A (n.*814T>A) c.1163T>A (p.Val388Glu) c.773T>A (p.Val258Glu) | |
| X | g.154030387C>A | CA415163010 | MECP2 | c.1441G>T (p.Val481Leu) c.1477G>T (p.Val493Leu) c.*813G>T (n.*813G>T) c.1162G>T (p.Val388Leu) c.772G>T (p.Val258Leu) | |
| X | g.154030387C= | CA2466570094 | MECP2 | c.1441G= (p.Val481=) c.1477G= (p.Val493=) c.*813G= (n.*813G=) c.1162G= (p.Val388=) c.772G= (p.Val258=) | |
| X | g.154030387C>G | CA415163013 | MECP2 | c.1441G>C (p.Val481Leu) c.1477G>C (p.Val493Leu) c.*813G>C (n.*813G>C) c.1162G>C (p.Val388Leu) c.772G>C (p.Val258Leu) | |
| X | g.154030387C>T | CA208886 | MECP2 | c.1441G>A (p.Val481Met) c.1477G>A (p.Val493Met) c.*813G>A (n.*813G>A) c.1162G>A (p.Val388Met) c.772G>A (p.Val258Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030388G>A | CA10558427 | MECP2 | c.1440C>T (p.Pro480=) c.1476C>T (p.Pro492=) c.*812C>T (n.*812C>T) c.1161C>T (p.Pro387=) c.771C>T (p.Pro257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030388G>C | CA519704519 | MECP2 | c.1440C>G (p.Pro480=) c.1476C>G (p.Pro492=) c.*812C>G (n.*812C>G) c.1161C>G (p.Pro387=) c.771C>G (p.Pro257=) | |
| X | g.154030388G= | CA2466570095 | MECP2 | c.1440C= (p.Pro480=) c.1476C= (p.Pro492=) c.*812C= (n.*812C=) c.1161C= (p.Pro387=) c.771C= (p.Pro257=) | |
| X | g.154030388G>T | CA519704520 | MECP2 | c.1440C>A (p.Pro480=) c.1476C>A (p.Pro492=) c.*812C>A (n.*812C>A) c.1161C>A (p.Pro387=) c.771C>A (p.Pro257=) | |
| X | g.154030389G>A | CA415163033 | MECP2 | c.1439C>T (p.Pro480Leu) c.1475C>T (p.Pro492Leu) c.*811C>T (n.*811C>T) c.1160C>T (p.Pro387Leu) c.770C>T (p.Pro257Leu) | ClinVar COSMIC |
| X | g.154030389G>C | CA415163036 | MECP2 | c.1439C>G (p.Pro480Arg) c.1475C>G (p.Pro492Arg) c.*811C>G (n.*811C>G) c.1160C>G (p.Pro387Arg) c.770C>G (p.Pro257Arg) | |
| X | g.154030389G= | CA2466570096 | MECP2 | c.1439C= (p.Pro480=) c.1475C= (p.Pro492=) c.*811C= (n.*811C=) c.1160C= (p.Pro387=) c.770C= (p.Pro257=) | |
| X | g.154030389G>T | CA10558428 | MECP2 | c.1439C>A (p.Pro480His) c.1475C>A (p.Pro492His) c.*811C>A (n.*811C>A) c.1160C>A (p.Pro387His) c.770C>A (p.Pro257His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154030392_154030398del | CA2695099662 | MECP2 | c.1433_1439del (p.Arg478ProfsTer2) c.1469_1475del (p.Arg490ProfsTer2) c.*805_*811del (n.*805_*811del) c.1154_1160del (p.Arg385ProfsTer2) c.764_770del (p.Arg255ProfsTer2) | gnomAD v4 |
| X | g.154030390G>A | CA170251 | MECP2 | c.1438C>T (p.Pro480Ser) c.1474C>T (p.Pro492Ser) c.*810C>T (n.*810C>T) c.1159C>T (p.Pro387Ser) c.769C>T (p.Pro257Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030390G>C | CA415163042 | MECP2 | c.1438C>G (p.Pro480Ala) c.1474C>G (p.Pro492Ala) c.*810C>G (n.*810C>G) c.1159C>G (p.Pro387Ala) c.769C>G (p.Pro257Ala) | |
| X | g.154030390G= | CA2466570097 | MECP2 | c.1438C= (p.Pro480=) c.1474C= (p.Pro492=) c.*810C= (n.*810C=) c.1159C= (p.Pro387=) c.769C= (p.Pro257=) | |
| X | g.154030390G>T | CA415163048 | MECP2 | c.1438C>A (p.Pro480Thr) c.1474C>A (p.Pro492Thr) c.*810C>A (n.*810C>A) c.1159C>A (p.Pro387Thr) c.769C>A (p.Pro257Thr) | |
| X | g.154030391C>A | CA519704521 | MECP2 | c.1437G>T (p.Thr479=) c.1473G>T (p.Thr491=) c.*809G>T (n.*809G>T) c.1158G>T (p.Thr386=) c.768G>T (p.Thr256=) | |
| X | g.154030391C= | CA2466570098 | MECP2 | c.1437G= (p.Thr479=) c.1473G= (p.Thr491=) c.*809G= (n.*809G=) c.1158G= (p.Thr386=) c.768G= (p.Thr256=) | |
| X | g.154030391C>G | CA519704522 | MECP2 | c.1437G>C (p.Thr479=) c.1473G>C (p.Thr491=) c.*809G>C (n.*809G>C) c.1158G>C (p.Thr386=) c.768G>C (p.Thr256=) | |
| X | g.154030391C>T | CA180180 | MECP2 | c.1437G>A (p.Thr479=) c.1473G>A (p.Thr491=) c.*809G>A (n.*809G>A) c.1158G>A (p.Thr386=) c.768G>A (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154030392G>A | CA170248 | MECP2 | c.1436C>T (p.Thr479Met) c.1472C>T (p.Thr491Met) c.*808C>T (n.*808C>T) c.1157C>T (p.Thr386Met) c.767C>T (p.Thr256Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.154030392G>C | CA415163059 | MECP2 | c.1436C>G (p.Thr479Arg) c.1472C>G (p.Thr491Arg) c.*808C>G (n.*808C>G) c.1157C>G (p.Thr386Arg) c.767C>G (p.Thr256Arg) | |
| X | g.154030392G= | CA2466570099 | MECP2 | c.1436C= (p.Thr479=) c.1472C= (p.Thr491=) c.*808C= (n.*808C=) c.1157C= (p.Thr386=) c.767C= (p.Thr256=) | |
| X | g.154030392G>T | CA415163063 | MECP2 | c.1436C>A (p.Thr479Lys) c.1472C>A (p.Thr491Lys) c.*808C>A (n.*808C>A) c.1157C>A (p.Thr386Lys) c.767C>A (p.Thr256Lys) |