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.154029824G>A | CA337261114 | MECP2 | c.*543C>T (n.*543C>T) c.*470C>T (n.*470C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029824G= | CA2466569696 | MECP2 | c.*543C= (n.*543C=) c.*470C= (n.*470C=) | |
| X | g.154029824G>T | CA2695098533 | MECP2 | c.*543C>A (n.*543C>A) c.*470C>A (n.*470C>A) | gnomAD v4 |
| X | g.154029825C>A | CA2824280999 | MECP2 | c.*542G>T (n.*542G>T) c.*469G>T (n.*469G>T) | |
| X | g.154029825C= | CA2466569697 | MECP2 | c.*542G= (n.*542G=) c.*469G= (n.*469G=) | |
| X | g.154029825C>G | CA2466569698 | MECP2 | c.*542G>C (n.*542G>C) c.*469G>C (n.*469G>C) | dbSNP gnomAD v4 |
| X | g.154029826A= | CA2466569699 | MECP2 | c.*541T= (n.*541T=) c.*468T= (n.*468T=) | |
| X | g.154029826A>C | CA337261115 | MECP2 | c.*541T>G (n.*541T>G) c.*468T>G (n.*468T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029826A>G | CA2510492572 | MECP2 | c.*541T>C (n.*541T>C) c.*468T>C (n.*468T>C) | gnomAD v4 |
| X | g.154029826A>T | CA2466569700 | MECP2 | c.*541T>A (n.*541T>A) c.*468T>A (n.*468T>A) | dbSNP |
| X | g.154029827C>A | CA2695098540 | MECP2 | c.*540G>T (n.*540G>T) c.*467G>T (n.*467G>T) | gnomAD v4 |
| X | g.154029827C= | CA2466569701 | MECP2 | c.*540G= (n.*540G=) c.*467G= (n.*467G=) | |
| X | g.154029827C>G | CA873291055 | MECP2 | c.*540G>C (n.*540G>C) c.*467G>C (n.*467G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029827C>T | CA1138553519 | MECP2 | c.*540G>A (n.*540G>A) c.*467G>A (n.*467G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029827_154029828insT | CA658619931 | MECP2 | c.*539_*540insA (n.*539_*540insA) c.*466_*467insA (n.*466_*467insA) | COSMIC |
| X | g.154029828A= | CA2466569702 | MECP2 | c.*539T= (n.*539T=) c.*466T= (n.*466T=) | |
| X | g.154029828A>C | CA2466569703 | MECP2 | c.*539T>G (n.*539T>G) c.*466T>G (n.*466T>G) | dbSNP |
| X | g.154029828A>G | CA2695098541 | MECP2 | c.*539T>C (n.*539T>C) c.*466T>C (n.*466T>C) | gnomAD v4 |
| X | g.154029831C>A | CA2695098543 | MECP2 | c.*536G>T (n.*536G>T) c.*463G>T (n.*463G>T) | gnomAD v4 |
| X | g.154029831C= | CA2466569704 | MECP2 | c.*536G= (n.*536G=) c.*463G= (n.*463G=) | |
| X | g.154029831C>G | CA873291058 | MECP2 | c.*536G>C (n.*536G>C) c.*463G>C (n.*463G>C) | dbSNP gnomAD v4 |
| X | g.154029831C>T | CA337261124 | MECP2 | c.*536G>A (n.*536G>A) c.*463G>A (n.*463G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029832C= | CA2466569705 | MECP2 | c.*535G= (n.*535G=) c.*462G= (n.*462G=) | |
| X | g.154029832C>T | CA645169049 | MECP2 | c.*535G>A (n.*535G>A) c.*462G>A (n.*462G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029834T>A | CA2695098547 | MECP2 | c.*533A>T (n.*533A>T) c.*460A>T (n.*460A>T) | gnomAD v4 |
| X | g.154029834T>C | CA2695098548 | MECP2 | c.*533A>G (n.*533A>G) c.*460A>G (n.*460A>G) | gnomAD v4 |
| X | g.154029835A= | CA2466569706 | MECP2 | c.*532T= (n.*532T=) c.*459T= (n.*459T=) | |
| X | g.154029835A>G | CA873291062 | MECP2 | c.*532T>C (n.*532T>C) c.*459T>C (n.*459T>C) | dbSNP gnomAD v4 |
| X | g.154029835_154029836insT | CA337261126 | MECP2 | c.*531_*532insA (n.*531_*532insA) c.*458_*459insA (n.*458_*459insA) | dbSNP |
| X | g.154029836G>T | CA2695098551 | MECP2 | c.*531C>A (n.*531C>A) c.*458C>A (n.*458C>A) | gnomAD v4 |
| X | g.154029837C>A | CA2695098552 | MECP2 | c.*530G>T (n.*530G>T) c.*457G>T (n.*457G>T) | gnomAD v4 |
| X | g.154029837C>G | CA2503082026 | MECP2 | c.*530G>C (n.*530G>C) c.*457G>C (n.*457G>C) | gnomAD v4 |
| X | g.154029837C>T | CA2824281000 | MECP2 | c.*530G>A (n.*530G>A) c.*457G>A (n.*457G>A) | |
| X | g.154029838C>A | CA170133 | MECP2 | c.*529G>T (n.*529G>T) c.*456G>T (n.*456G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029838C= | CA2466569707 | MECP2 | c.*529G= (n.*529G=) c.*456G= (n.*456G=) | |
| X | g.154029838C>G | CA645169050 | MECP2 | c.*529G>C (n.*529G>C) c.*456G>C (n.*456G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029838C>T | CA873291066 | MECP2 | c.*529G>A (n.*529G>A) c.*456G>A (n.*456G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029839A= | CA2466569708 | MECP2 | c.*528T= (n.*528T=) c.*455T= (n.*455T=) | |
| X | g.154029839A>C | CA1138553521 | MECP2 | c.*528T>G (n.*528T>G) c.*455T>G (n.*455T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029840C>G | CA2695098556 | MECP2 | c.*527G>C (n.*527G>C) c.*454G>C (n.*454G>C) | gnomAD v4 |
| X | g.154029841T>C | CA1138553522 | MECP2 | c.*526A>G (n.*526A>G) c.*453A>G (n.*453A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029841T= | CA2466569709 | MECP2 | c.*526A= (n.*526A=) c.*453A= (n.*453A=) | |
| X | g.154029842G>A | CA2695098558 | MECP2 | c.*525C>T (n.*525C>T) c.*452C>T (n.*452C>T) | dbSNP gnomAD v4 |
| X | g.154029842G>T | CA2695098559 | MECP2 | c.*525C>A (n.*525C>A) c.*452C>A (n.*452C>A) | gnomAD v4 |
| X | g.154029843G>A | CA2515389591 | MECP2 | c.*524C>T (n.*524C>T) c.*451C>T (n.*451C>T) | gnomAD v4 |
| X | g.154029843G>C | CA1138553523 | MECP2 | c.*524C>G (n.*524C>G) c.*451C>G (n.*451C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029843G= | CA2466569710 | MECP2 | c.*524C= (n.*524C=) c.*451C= (n.*451C=) | |
| X | g.154029843G>T | CA2695098560 | MECP2 | c.*524C>A (n.*524C>A) c.*451C>A (n.*451C>A) | gnomAD v4 |
| X | g.154029844T>C | CA2695098564 | MECP2 | c.*523A>G (n.*523A>G) c.*450A>G (n.*450A>G) | gnomAD v4 |
| X | g.154029845C>A | CA645169051 | MECP2 | c.*522G>T (n.*522G>T) c.*449G>T (n.*449G>T) | dbSNP gnomAD v2 |
| X | g.154029845C= | CA2466569711 | MECP2 | c.*522G= (n.*522G=) c.*449G= (n.*449G=) | |
| X | g.154029845C>G | CA2695098566 | MECP2 | c.*522G>C (n.*522G>C) c.*449G>C (n.*449G>C) | gnomAD v4 |
| X | g.154029845C>T | CA2824281001 | MECP2 | c.*522G>A (n.*522G>A) c.*449G>A (n.*449G>A) | |
| X | g.154029846A= | CA2466569712 | MECP2 | c.*521T= (n.*521T=) c.*448T= (n.*448T=) | |
| X | g.154029846A>C | CA2695098569 | MECP2 | c.*521T>G (n.*521T>G) c.*448T>G (n.*448T>G) | gnomAD v4 |
| X | g.154029846A>G | CA1138553524 | MECP2 | c.*521T>C (n.*521T>C) c.*448T>C (n.*448T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029848A= | CA2466569713 | MECP2 | c.*519T= (n.*519T=) c.*446T= (n.*446T=) | |
| X | g.154029848A>G | CA873291071 | MECP2 | c.*519T>C (n.*519T>C) c.*446T>C (n.*446T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029850C>A | CA873291074 | MECP2 | c.*517G>T (n.*517G>T) c.*444G>T (n.*444G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029850C= | CA2466569714 | MECP2 | c.*517G= (n.*517G=) c.*444G= (n.*444G=) | |
| X | g.154029850C>G | CA337261135 | MECP2 | c.*517G>C (n.*517G>C) c.*444G>C (n.*444G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029850C>T | CA873291084 | MECP2 | c.*517G>A (n.*517G>A) c.*444G>A (n.*444G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029851C>A | CA873291093 | MECP2 | c.*516G>T (n.*516G>T) c.*443G>T (n.*443G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029851C= | CA2466569715 | MECP2 | c.*516G= (n.*516G=) c.*443G= (n.*443G=) | |
| X | g.154029852A= | CA2466569716 | MECP2 | c.*515T= (n.*515T=) c.*442T= (n.*442T=) | |
| X | g.154029852A>G | CA873291098 | MECP2 | c.*515T>C (n.*515T>C) c.*442T>C (n.*442T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029853T>C | CA2466569718 | MECP2 | c.*514A>G (n.*514A>G) c.*441A>G (n.*441A>G) | dbSNP |
| X | g.154029853T= | CA2466569717 | MECP2 | c.*514A= (n.*514A=) c.*441A= (n.*441A=) | |
| X | g.154029854C>A | CA2695098582 | MECP2 | c.*513G>T (n.*513G>T) c.*440G>T (n.*440G>T) | gnomAD v4 |
| X | g.154029854C= | CA2466569719 | MECP2 | c.*513G= (n.*513G=) c.*440G= (n.*440G=) | |
| X | g.154029854C>G | CA337261138 | MECP2 | c.*513G>C (n.*513G>C) c.*440G>C (n.*440G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029857C>A | CA2695098584 | MECP2 | c.*510G>T (n.*510G>T) c.*437G>T (n.*437G>T) | gnomAD v4 |
| X | g.154029857C= | CA2466569720 | MECP2 | c.*510G= (n.*510G=) c.*437G= (n.*437G=) | |
| X | g.154029857C>G | CA1138553527 | MECP2 | c.*510G>C (n.*510G>C) c.*437G>C (n.*437G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029857C>T | CA1138553529 | MECP2 | c.*510G>A (n.*510G>A) c.*437G>A (n.*437G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029857_154029861del | CA2695098583 | MECP2 | c.*506_*510del (n.*506_*510del) c.*433_*437del (n.*433_*437del) | gnomAD v4 |
| X | g.154029859C= | CA2466569721 | MECP2 | c.*508G= (n.*508G=) c.*435G= (n.*435G=) | |
| X | g.154029859C>G | CA337261143 | MECP2 | c.*508G>C (n.*508G>C) c.*435G>C (n.*435G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029860T>C | CA645169052 | MECP2 | c.*507A>G (n.*507A>G) c.*434A>G (n.*434A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029860T= | CA2466569722 | MECP2 | c.*507A= (n.*507A=) c.*434A= (n.*434A=) | |
| X | g.154029861A= | CA2466569723 | MECP2 | c.*506T= (n.*506T=) c.*433T= (n.*433T=) | |
| X | g.154029861A>C | CA2824281002 | MECP2 | c.*506T>G (n.*506T>G) c.*433T>G (n.*433T>G) | |
| X | g.154029861A>G | CA645169053 | MECP2 | c.*506T>C (n.*506T>C) c.*433T>C (n.*433T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029863A= | CA2466569724 | MECP2 | c.*504T= (n.*504T=) c.*431T= (n.*431T=) | |
| X | g.154029863A>G | CA2466569725 | MECP2 | c.*504T>C (n.*504T>C) c.*431T>C (n.*431T>C) | dbSNP |
| X | g.154029864G>C | CA2466569727 | MECP2 | c.*503C>G (n.*503C>G) c.*430C>G (n.*430C>G) | dbSNP |
| X | g.154029864G= | CA2466569726 | MECP2 | c.*503C= (n.*503C=) c.*430C= (n.*430C=) | |
| X | g.154029864G>T | CA1138553530 | MECP2 | c.*503C>A (n.*503C>A) c.*430C>A (n.*430C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029866A= | CA2466569728 | MECP2 | c.*501T= (n.*501T=) c.*428T= (n.*428T=) | |
| X | g.154029866A>G | CA2466569729 | MECP2 | c.*501T>C (n.*501T>C) c.*428T>C (n.*428T>C) | dbSNP |
| X | g.154029867T>C | CA2695098586 | MECP2 | c.*500A>G (n.*500A>G) c.*427A>G (n.*427A>G) | gnomAD v4 |
| X | g.154029868C>A | CA2695098588 | MECP2 | c.*499G>T (n.*499G>T) c.*426G>T (n.*426G>T) | gnomAD v4 |
| X | g.154029868C= | CA2466569730 | MECP2 | c.*499G= (n.*499G=) c.*426G= (n.*426G=) | |
| X | g.154029868C>G | CA337261150 | MECP2 | c.*499G>C (n.*499G>C) c.*426G>C (n.*426G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029868C>T | CA645169054 | MECP2 | c.*499G>A (n.*499G>A) c.*426G>A (n.*426G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029869C>A | CA2695098591 | MECP2 | c.*498G>T (n.*498G>T) c.*425G>T (n.*425G>T) | gnomAD v4 |
| X | g.154029869C>G | CA2695098592 | MECP2 | c.*498G>C (n.*498G>C) c.*425G>C (n.*425G>C) | gnomAD v4 |
| X | g.154029869C>T | CA2695098593 | MECP2 | c.*498G>A (n.*498G>A) c.*425G>A (n.*425G>A) | gnomAD v4 |
| X | g.154029870A>C | CA2695098594 | MECP2 | c.*497T>G (n.*497T>G) c.*424T>G (n.*424T>G) | gnomAD v4 |
| X | g.154029871A= | CA2466569731 | MECP2 | c.*496T= (n.*496T=) c.*423T= (n.*423T=) | |
| X | g.154029871A>C | CA2824281003 | MECP2 | c.*496T>G (n.*496T>G) c.*423T>G (n.*423T>G) | |
| X | g.154029871A>G | CA873291110 | MECP2 | c.*496T>C (n.*496T>C) c.*423T>C (n.*423T>C) | dbSNP gnomAD v4 |
| X | g.154029871A>T | CA2695098596 | MECP2 | c.*496T>A (n.*496T>A) c.*423T>A (n.*423T>A) | gnomAD v4 |
| X | g.154029872C>A | CA337261158 | MECP2 | c.*495G>T (n.*495G>T) c.*422G>T (n.*422G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029872C= | CA2466569732 | MECP2 | c.*495G= (n.*495G=) c.*422G= (n.*422G=) | |
| X | g.154029872C>G | CA645169055 | MECP2 | c.*495G>C (n.*495G>C) c.*422G>C (n.*422G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029872C>T | CA2466569733 | MECP2 | c.*495G>A (n.*495G>A) c.*422G>A (n.*422G>A) | dbSNP |
| X | g.154029874G>A | CA645169056 | MECP2 | c.*493C>T (n.*493C>T) c.*420C>T (n.*420C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029874G>C | CA337261174 | MECP2 | c.*493C>G (n.*493C>G) c.*420C>G (n.*420C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029874G= | CA2466569734 | MECP2 | c.*493C= (n.*493C=) c.*420C= (n.*420C=) | |
| X | g.154029874G>T | CA2695098602 | MECP2 | c.*493C>A (n.*493C>A) c.*420C>A (n.*420C>A) | gnomAD v4 |
| X | g.154029875T>C | CA873291117 | MECP2 | c.*492A>G (n.*492A>G) c.*419A>G (n.*419A>G) | dbSNP |
| X | g.154029875T= | CA2466569735 | MECP2 | c.*492A= (n.*492A=) c.*419A= (n.*419A=) | |
| X | g.154029876C>A | CA2695098605 | MECP2 | c.*491G>T (n.*491G>T) c.*418G>T (n.*418G>T) | gnomAD v4 |
| X | g.154029876C= | CA2466569736 | MECP2 | c.*491G= (n.*491G=) c.*418G= (n.*418G=) | |
| X | g.154029876C>G | CA337261180 | MECP2 | c.*491G>C (n.*491G>C) c.*418G>C (n.*418G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029876C>T | CA2695098608 | MECP2 | c.*491G>A (n.*491G>A) c.*418G>A (n.*418G>A) | gnomAD v4 |
| X | g.154029878C= | CA2466569737 | MECP2 | c.*489G= (n.*489G=) c.*416G= (n.*416G=) | |
| X | g.154029878C>G | CA170132 | MECP2 | c.*489G>C (n.*489G>C) c.*416G>C (n.*416G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029878C>T | CA2695098613 | MECP2 | c.*489G>A (n.*489G>A) c.*416G>A (n.*416G>A) | gnomAD v4 |
| X | g.154029879T>C | CA2695098616 | MECP2 | c.*488A>G (n.*488A>G) c.*415A>G (n.*415A>G) | gnomAD v4 |
| X | g.154029880C>A | CA1138553534 | MECP2 | c.*487G>T (n.*487G>T) c.*414G>T (n.*414G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029880C= | CA2466569738 | MECP2 | c.*487G= (n.*487G=) c.*414G= (n.*414G=) | |
| X | g.154029880C>G | CA170131 | MECP2 | c.*487G>C (n.*487G>C) c.*414G>C (n.*414G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029880C>T | CA2466569739 | MECP2 | c.*487G>A (n.*487G>A) c.*414G>A (n.*414G>A) | dbSNP gnomAD v4 |
| X | g.154029881C>A | CA2695098628 | MECP2 | c.*486G>T (n.*486G>T) c.*413G>T (n.*413G>T) | gnomAD v4 |
| X | g.154029881C= | CA2466569740 | MECP2 | c.*486G= (n.*486G=) c.*413G= (n.*413G=) | |
| X | g.154029881C>G | CA873291129 | MECP2 | c.*486G>C (n.*486G>C) c.*413G>C (n.*413G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029881C>T | CA2695098630 | MECP2 | c.*486G>A (n.*486G>A) c.*413G>A (n.*413G>A) | gnomAD v4 |
| X | g.154029882T>C | CA2466569742 | MECP2 | c.*485A>G (n.*485A>G) c.*412A>G (n.*412A>G) | dbSNP |
| X | g.154029882T= | CA2466569741 | MECP2 | c.*485A= (n.*485A=) c.*412A= (n.*412A=) | |
| X | g.154029883G>A | CA2466569744 | MECP2 | c.*484C>T (n.*484C>T) c.*411C>T (n.*411C>T) | dbSNP gnomAD v4 |
| X | g.154029883G>C | CA2695098634 | MECP2 | c.*484C>G (n.*484C>G) c.*411C>G (n.*411C>G) | gnomAD v4 |
| X | g.154029883G= | CA2466569743 | MECP2 | c.*484C= (n.*484C=) c.*411C= (n.*411C=) | |
| X | g.154029883G>T | CA2695098636 | MECP2 | c.*484C>A (n.*484C>A) c.*411C>A (n.*411C>A) | gnomAD v4 |
| X | g.154029884C>A | CA645169057 | MECP2 | c.*483G>T (n.*483G>T) c.*410G>T (n.*410G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029884C= | CA2466569745 | MECP2 | c.*483G= (n.*483G=) c.*410G= (n.*410G=) | |
| X | g.154029884C>G | CA337261196 | MECP2 | c.*483G>C (n.*483G>C) c.*410G>C (n.*410G>C) | dbSNP |
| X | g.154029885C>A | CA2695098648 | MECP2 | c.*482G>T (n.*482G>T) c.*409G>T (n.*409G>T) | gnomAD v4 |
| X | g.154029885C= | CA2466569746 | MECP2 | c.*482G= (n.*482G=) c.*409G= (n.*409G=) | |
| X | g.154029885C>G | CA337261204 | MECP2 | c.*482G>C (n.*482G>C) c.*409G>C (n.*409G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029885C>T | CA2695098651 | MECP2 | c.*482G>A (n.*482G>A) c.*409G>A (n.*409G>A) | gnomAD v4 |
| X | g.154029886T>C | CA2695098653 | MECP2 | c.*481A>G (n.*481A>G) c.*408A>G (n.*408A>G) | gnomAD v4 |
| X | g.154029887C>A | CA2695098656 | MECP2 | c.*480G>T (n.*480G>T) c.*407G>T (n.*407G>T) | gnomAD v4 |
| X | g.154029887C= | CA2466569748 | MECP2 | c.*480G= (n.*480G=) c.*407G= (n.*407G=) | |
| X | g.154029887C>G | CA645169058 | MECP2 | c.*480G>C (n.*480G>C) c.*407G>C (n.*407G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029887C>T | CA2466569747 | MECP2 | c.*480G>A (n.*480G>A) c.*407G>A (n.*407G>A) | dbSNP gnomAD v4 |
| X | g.154029888A= | CA2466569749 | MECP2 | c.*479T= (n.*479T=) c.*406T= (n.*406T=) | |
| X | g.154029888A>C | CA873291142 | MECP2 | c.*479T>G (n.*479T>G) c.*406T>G (n.*406T>G) | dbSNP |
| X | g.154029888A>G | CA2466569750 | MECP2 | c.*479T>C (n.*479T>C) c.*406T>C (n.*406T>C) | dbSNP |
| X | g.154029888A>T | CA873291145 | MECP2 | c.*479T>A (n.*479T>A) c.*406T>A (n.*406T>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029889C>A | CA2466569752 | MECP2 | c.*478G>T (n.*478G>T) c.*405G>T (n.*405G>T) | dbSNP gnomAD v4 |
| X | g.154029889C= | CA2466569751 | MECP2 | c.*478G= (n.*478G=) c.*405G= (n.*405G=) | |
| X | g.154029889C>T | CA2695098659 | MECP2 | c.*478G>A (n.*478G>A) c.*405G>A (n.*405G>A) | gnomAD v4 |
| X | g.154029890A>C | CA2695098660 | MECP2 | c.*477T>G (n.*477T>G) c.*404T>G (n.*404T>G) | gnomAD v4 |
| X | g.154029891C>A | CA2695098664 | MECP2 | c.*476G>T (n.*476G>T) c.*403G>T (n.*403G>T) | gnomAD v4 |
| X | g.154029891C= | CA2466569753 | MECP2 | c.*476G= (n.*476G=) c.*403G= (n.*403G=) | |
| X | g.154029891C>G | CA873291150 | MECP2 | c.*476G>C (n.*476G>C) c.*403G>C (n.*403G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029891C>T | CA2466569754 | MECP2 | c.*476G>A (n.*476G>A) c.*403G>A (n.*403G>A) | dbSNP gnomAD v4 |
| X | g.154029892C= | CA2466569755 | MECP2 | c.*475G= (n.*475G=) c.*402G= (n.*402G=) | |
| X | g.154029892C>G | CA337261213 | MECP2 | c.*475G>C (n.*475G>C) c.*402G>C (n.*402G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029892C>T | CA2695098668 | MECP2 | c.*475G>A (n.*475G>A) c.*402G>A (n.*402G>A) | gnomAD v4 |
| X | g.154029893T>C | CA2695098670 | MECP2 | c.*474A>G (n.*474A>G) c.*401A>G (n.*401A>G) | gnomAD v4 |
| X | g.154029894C>A | CA873291155 | MECP2 | c.*473G>T (n.*473G>T) c.*400G>T (n.*400G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029894C= | CA2466569756 | MECP2 | c.*473G= (n.*473G=) c.*400G= (n.*400G=) | |
| X | g.154029894C>G | CA337261226 | MECP2 | c.*473G>C (n.*473G>C) c.*400G>C (n.*400G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029894C>T | CA873291154 | MECP2 | c.*473G>A (n.*473G>A) c.*400G>A (n.*400G>A) | dbSNP |
| X | g.154029895C= | CA2466569757 | MECP2 | c.*472G= (n.*472G=) c.*399G= (n.*399G=) | |
| X | g.154029895C>T | CA873291156 | MECP2 | c.*472G>A (n.*472G>A) c.*399G>A (n.*399G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029896C>A | CA2695098680 | MECP2 | c.*471G>T (n.*471G>T) c.*398G>T (n.*398G>T) | gnomAD v4 |
| X | g.154029896C= | CA2466569758 | MECP2 | c.*471G= (n.*471G=) c.*398G= (n.*398G=) | |
| X | g.154029896C>G | CA337261253 | MECP2 | c.*471G>C (n.*471G>C) c.*398G>C (n.*398G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029896C>T | CA2466569759 | MECP2 | c.*471G>A (n.*471G>A) c.*398G>A (n.*398G>A) | dbSNP |
| X | g.154029897T>C | CA2695098683 | MECP2 | c.*470A>G (n.*470A>G) c.*397A>G (n.*397A>G) | gnomAD v4 |
| X | g.154029900C= | CA2466569760 | MECP2 | c.*467G= (n.*467G=) c.*394G= (n.*394G=) | |
| X | g.154029900C>G | CA2466569761 | MECP2 | c.*467G>C (n.*467G>C) c.*394G>C (n.*394G>C) | dbSNP |
| X | g.154029900C>T | CA2466569762 | MECP2 | c.*467G>A (n.*467G>A) c.*394G>A (n.*394G>A) | dbSNP |
| X | g.154029901C>A | CA873291161 | MECP2 | c.*466G>T (n.*466G>T) c.*393G>T (n.*393G>T) | dbSNP gnomAD v4 |
| X | g.154029901C= | CA2466569763 | MECP2 | c.*466G= (n.*466G=) c.*393G= (n.*393G=) | |
| X | g.154029901C>G | CA873291159 | MECP2 | c.*466G>C (n.*466G>C) c.*393G>C (n.*393G>C) | dbSNP gnomAD v4 |
| X | g.154029901C>T | CA873291157 | MECP2 | c.*466G>A (n.*466G>A) c.*393G>A (n.*393G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029902C= | CA2466569765 | MECP2 | c.*465G= (n.*465G=) c.*392G= (n.*392G=) | |
| X | g.154029902C>G | CA2466569764 | MECP2 | c.*465G>C (n.*465G>C) c.*392G>C (n.*392G>C) | dbSNP gnomAD v4 |
| X | g.154029903A>T | CA2695098688 | MECP2 | c.*464T>A (n.*464T>A) c.*391T>A (n.*391T>A) | gnomAD v4 |
| X | g.154029904A= | CA2466569766 | MECP2 | c.*463T= (n.*463T=) c.*390T= (n.*390T=) | |
| X | g.154029904A>G | CA645169059 | MECP2 | c.*463T>C (n.*463T>C) c.*390T>C (n.*390T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029904A>T | CA2695098690 | MECP2 | c.*463T>A (n.*463T>A) c.*390T>A (n.*390T>A) | gnomAD v4 |
| X | g.154029905C>A | CA873291167 | MECP2 | c.*462G>T (n.*462G>T) c.*389G>T (n.*389G>T) | dbSNP |
| X | g.154029905C= | CA2466569767 | MECP2 | c.*462G= (n.*462G=) c.*389G= (n.*389G=) | |
| X | g.154029905C>T | CA337261257 | MECP2 | c.*462G>A (n.*462G>A) c.*389G>A (n.*389G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029906G>A | CA873291170 | MECP2 | c.*461C>T (n.*461C>T) c.*388C>T (n.*388C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029906G= | CA2466569769 | MECP2 | c.*461C= (n.*461C=) c.*388C= (n.*388C=) | |
| X | g.154029906G>T | CA2695098693 | MECP2 | c.*461C>A (n.*461C>A) c.*388C>A (n.*388C>A) | gnomAD v4 |
| X | g.154029906_154029910delinsGTGGT | CA2466569768 | MECP2 | c.*457_*461delinsACCAC (n.*457_*461delinsACCAC) c.*384_*388delinsACCAC (n.*384_*388delinsACCAC) | |
| X | g.154029907T>C | CA2695098696 | MECP2 | c.*460A>G (n.*460A>G) c.*387A>G (n.*387A>G) | gnomAD v4 |
| X | g.154029910_154029913del | CA873291172 | MECP2 | c.*457_*460del (n.*457_*460del) c.*384_*387del (n.*384_*387del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029908G>T | CA2695098698 | MECP2 | c.*459C>A (n.*459C>A) c.*386C>A (n.*386C>A) | gnomAD v4 |
| X | g.154029909G>A | CA2695098700 | MECP2 | c.*458C>T (n.*458C>T) c.*385C>T (n.*385C>T) | gnomAD v4 |
| X | g.154029909G>C | CA873291174 | MECP2 | c.*458C>G (n.*458C>G) c.*385C>G (n.*385C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029909G= | CA2466569770 | MECP2 | c.*458C= (n.*458C=) c.*385C= (n.*385C=) | |
| X | g.154029909G>T | CA2466569771 | MECP2 | c.*458C>A (n.*458C>A) c.*385C>A (n.*385C>A) | dbSNP |
| X | g.154029910T>A | CA2695098702 | MECP2 | c.*457A>T (n.*457A>T) c.*384A>T (n.*384A>T) | gnomAD v4 |
| X | g.154029910T>C | CA873291177 | MECP2 | c.*457A>G (n.*457A>G) c.*384A>G (n.*384A>G) | dbSNP |
| X | g.154029910T>G | CA2695098704 | MECP2 | c.*457A>C (n.*457A>C) c.*384A>C (n.*384A>C) | gnomAD v4 |
| X | g.154029910T= | CA2466569772 | MECP2 | c.*457A= (n.*457A=) c.*384A= (n.*384A=) | |
| X | g.154029911T>G | CA2695098705 | MECP2 | c.*456A>C (n.*456A>C) c.*383A>C (n.*383A>C) | gnomAD v4 |
| X | g.154029911_154029912delinsTG | CA2466569773 | MECP2 | c.*455_*456delinsCA (n.*455_*456delinsCA) c.*382_*383delinsCA (n.*382_*383delinsCA) | |
| X | g.154029912G>C | CA873291180 | MECP2 | c.*455C>G (n.*455C>G) c.*382C>G (n.*382C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029912G= | CA2466569774 | MECP2 | c.*455C= (n.*455C=) c.*382C= (n.*382C=) | |
| X | g.154029912G>T | CA2695098709 | MECP2 | c.*455C>A (n.*455C>A) c.*382C>A (n.*382C>A) | gnomAD v4 |
| X | g.154029914del | CA873291179 | MECP2 | c.*455del (n.*455del) c.*382del (n.*382del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029913G>A | CA2695098710 | MECP2 | c.*454C>T (n.*454C>T) c.*381C>T (n.*381C>T) | gnomAD v4 |
| X | g.154029913G>C | CA873291181 | MECP2 | c.*454C>G (n.*454C>G) c.*381C>G (n.*381C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029913G= | CA2466569775 | MECP2 | c.*454C= (n.*454C=) c.*381C= (n.*381C=) | |
| X | g.154029913G>T | CA2695098711 | MECP2 | c.*454C>A (n.*454C>A) c.*381C>A (n.*381C>A) | gnomAD v4 |
| X | g.154029914G>A | CA2695098713 | MECP2 | c.*453C>T (n.*453C>T) c.*380C>T (n.*380C>T) | gnomAD v4 |
| 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.154029915A= | CA2466569777 | MECP2 | c.*452T= (n.*452T=) c.*379T= (n.*379T=) | |
| X | g.154029915A>C | CA873291183 | MECP2 | c.*452T>G (n.*452T>G) c.*379T>G (n.*379T>G) | dbSNP gnomAD v4 |
| X | g.154029915A>G | CA2695098717 | MECP2 | c.*452T>C (n.*452T>C) c.*379T>C (n.*379T>C) | gnomAD v4 |
| 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.154029916G>C | CA873291188 | MECP2 | c.*451C>G (n.*451C>G) c.*378C>G (n.*378C>G) | dbSNP |
| X | g.154029916G= | CA2466569778 | MECP2 | c.*451C= (n.*451C=) c.*378C= (n.*378C=) | |
| X | g.154029916G>T | CA2695098720 | MECP2 | c.*451C>A (n.*451C>A) c.*378C>A (n.*378C>A) | gnomAD v4 |
| X | g.154029923_154029931del | CA2695098721 | MECP2 | c.*443_*451del (n.*443_*451del) c.*370_*378del (n.*370_*378del) | gnomAD v4 |
| X | g.154029917T>G | CA2695098722 | MECP2 | c.*450A>C (n.*450A>C) c.*377A>C (n.*377A>C) | gnomAD v4 |
| X | g.154029917T= | CA2466569779 | MECP2 | c.*450A= (n.*450A=) c.*377A= (n.*377A=) | |
| X | g.154029918G>A | CA873291190 | MECP2 | c.*449C>T (n.*449C>T) c.*376C>T (n.*376C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029918G>C | CA1138553536 | MECP2 | c.*449C>G (n.*449C>G) c.*376C>G (n.*376C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029918G= | CA2466569780 | MECP2 | c.*449C= (n.*449C=) c.*376C= (n.*376C=) | |
| X | g.154029918G>T | CA337261263 | MECP2 | c.*449C>A (n.*449C>A) c.*376C>A (n.*376C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029925_154029934dup | CA873291192 | MECP2 | c.*440_*449dup (n.*440_*449dup) c.*367_*376dup (n.*367_*376dup) | dbSNP gnomAD v4 |
| X | g.154029919G>A | CA2824281008 | MECP2 | c.*448C>T (n.*448C>T) c.*375C>T (n.*375C>T) | |
| X | g.154029920G>T | CA2695098728 | MECP2 | c.*447C>A (n.*447C>A) c.*374C>A (n.*374C>A) | gnomAD v4 |
| X | g.154029921G>A | CA2695098730 | MECP2 | c.*446C>T (n.*446C>T) c.*373C>T (n.*373C>T) | gnomAD v4 |
| X | g.154029921G>C | CA2695098731 | MECP2 | c.*446C>G (n.*446C>G) c.*373C>G (n.*373C>G) | gnomAD v4 |
| X | g.154029922G>C | CA337261275 | MECP2 | c.*445C>G (n.*445C>G) c.*372C>G (n.*372C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029922G= | CA2466569781 | MECP2 | c.*445C= (n.*445C=) c.*372C= (n.*372C=) | |
| X | g.154029922G>T | CA645169060 | MECP2 | c.*445C>A (n.*445C>A) c.*372C>A (n.*372C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029923A= | CA2466569782 | MECP2 | c.*444T= (n.*444T=) c.*371T= (n.*371T=) | |
| X | g.154029923A>C | CA873291203 | MECP2 | c.*444T>G (n.*444T>G) c.*371T>G (n.*371T>G) | dbSNP gnomAD v4 |
| X | g.154029923A>G | CA2695098739 | MECP2 | c.*444T>C (n.*444T>C) c.*371T>C (n.*371T>C) | gnomAD v4 |
| X | g.154029923A>T | CA2695098740 | MECP2 | c.*444T>A (n.*444T>A) c.*371T>A (n.*371T>A) | gnomAD v4 |
| X | g.154029924G>A | CA337261284 | MECP2 | c.*443C>T (n.*443C>T) c.*370C>T (n.*370C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029924G= | CA2466569783 | MECP2 | c.*443C= (n.*443C=) c.*370C= (n.*370C=) |