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.154030052G>A | CA2695099003 | MECP2 | c.*315C>T (n.*315C>T) c.*242C>T (n.*242C>T) | gnomAD v4 |
| X | g.154030052G>C | CA2695099005 | MECP2 | c.*315C>G (n.*315C>G) c.*242C>G (n.*242C>G) | gnomAD v4 |
| X | g.154030053C= | CA2466569886 | MECP2 | c.*314G= (n.*314G=) c.*241G= (n.*241G=) | |
| X | g.154030053C>T | CA873291309 | MECP2 | c.*314G>A (n.*314G>A) c.*241G>A (n.*241G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030054C= | CA2466569887 | MECP2 | c.*313G= (n.*313G=) c.*240G= (n.*240G=) | |
| X | g.154030054C>G | CA645289901 | MECP2 | c.*313G>C (n.*313G>C) c.*240G>C (n.*240G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030054C>T | CA2695099009 | MECP2 | c.*313G>A (n.*313G>A) c.*240G>A (n.*240G>A) | gnomAD v4 |
| X | g.154030056G>C | CA2695099011 | MECP2 | c.*311C>G (n.*311C>G) c.*238C>G (n.*238C>G) | gnomAD v4 |
| X | g.154030056G>T | CA2695099013 | MECP2 | c.*311C>A (n.*311C>A) c.*238C>A (n.*238C>A) | gnomAD v4 |
| X | g.154030057G>A | CA2824281059 | MECP2 | c.*310C>T (n.*310C>T) c.*237C>T (n.*237C>T) | |
| X | g.154030058T>C | CA337261482 | MECP2 | c.*309A>G (n.*309A>G) c.*236A>G (n.*236A>G) | dbSNP |
| X | g.154030058T= | CA2466569888 | MECP2 | c.*309A= (n.*309A=) c.*236A= (n.*236A=) | |
| X | g.154030059C= | CA2466569889 | MECP2 | c.*308G= (n.*308G=) c.*235G= (n.*235G=) | |
| X | g.154030059C>G | CA873291310 | MECP2 | c.*308G>C (n.*308G>C) c.*235G>C (n.*235G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030059C>T | CA873291311 | MECP2 | c.*308G>A (n.*308G>A) c.*235G>A (n.*235G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030061A>T | CA2695099020 | MECP2 | c.*306T>A (n.*306T>A) c.*233T>A (n.*233T>A) | gnomAD v4 |
| X | g.154030062C>A | CA2695099021 | MECP2 | c.*305G>T (n.*305G>T) c.*232G>T (n.*232G>T) | gnomAD v4 |
| X | g.154030062C>G | CA2824281060 | MECP2 | c.*305G>C (n.*305G>C) c.*232G>C (n.*232G>C) | |
| X | g.154030062C>T | CA2695099022 | MECP2 | c.*305G>A (n.*305G>A) c.*232G>A (n.*232G>A) | gnomAD v4 |
| X | g.154030064G= | CA2466569890 | MECP2 | c.*303C= (n.*303C=) c.*230C= (n.*230C=) | |
| X | g.154030064G>T | CA645289902 | MECP2 | c.*303C>A (n.*303C>A) c.*230C>A (n.*230C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030065C= | CA2466569891 | MECP2 | c.*302G= (n.*302G=) c.*229G= (n.*229G=) | |
| X | g.154030065C>G | CA337261512 | MECP2 | c.*302G>C (n.*302G>C) c.*229G>C (n.*229G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030068G>T | CA2695099024 | MECP2 | c.*299C>A (n.*299C>A) c.*226C>A (n.*226C>A) | gnomAD v4 |
| X | g.154030070C>A | CA2695099025 | MECP2 | c.*297G>T (n.*297G>T) c.*224G>T (n.*224G>T) | gnomAD v4 |
| X | g.154030070C= | CA2466569892 | MECP2 | c.*297G= (n.*297G=) c.*224G= (n.*224G=) | |
| X | g.154030070C>G | CA873291315 | MECP2 | c.*297G>C (n.*297G>C) c.*224G>C (n.*224G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030071T>A | CA2695099028 | MECP2 | c.*296A>T (n.*296A>T) c.*223A>T (n.*223A>T) | gnomAD v4 |
| X | g.154030071T>C | CA2466569893 | MECP2 | c.*296A>G (n.*296A>G) c.*223A>G (n.*223A>G) | dbSNP |
| X | g.154030071T= | CA2466569894 | MECP2 | c.*296A= (n.*296A=) c.*223A= (n.*223A=) | |
| X | g.154030072G>A | CA2695099029 | MECP2 | c.*295C>T (n.*295C>T) c.*222C>T (n.*222C>T) | gnomAD v4 |
| X | g.154030072G>C | CA873291316 | MECP2 | c.*295C>G (n.*295C>G) c.*222C>G (n.*222C>G) | dbSNP |
| X | g.154030072G= | CA2466569895 | MECP2 | c.*295C= (n.*295C=) c.*222C= (n.*222C=) | |
| X | g.154030073G>A | CA1138553569 | MECP2 | c.*294C>T (n.*294C>T) c.*221C>T (n.*221C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030073G>C | CA2695099030 | MECP2 | c.*294C>G (n.*294C>G) c.*221C>G (n.*221C>G) | gnomAD v4 |
| X | g.154030073G= | CA2466569896 | MECP2 | c.*294C= (n.*294C=) c.*221C= (n.*221C=) | |
| X | g.154030075C>A | CA2695099032 | MECP2 | c.*292G>T (n.*292G>T) c.*219G>T (n.*219G>T) | gnomAD v4 |
| X | g.154030075C= | CA2466569897 | MECP2 | c.*292G= (n.*292G=) c.*219G= (n.*219G=) | |
| X | g.154030075C>G | CA873291317 | MECP2 | c.*292G>C (n.*292G>C) c.*219G>C (n.*219G>C) | dbSNP gnomAD v4 |
| X | g.154030075C>T | CA2695099034 | MECP2 | c.*292G>A (n.*292G>A) c.*219G>A (n.*219G>A) | gnomAD v4 |
| X | g.154030076A>G | CA2695099036 | MECP2 | c.*291T>C (n.*291T>C) c.*218T>C (n.*218T>C) | gnomAD v4 |
| X | g.154030079A= | CA2466569898 | MECP2 | c.*288T= (n.*288T=) c.*215T= (n.*215T=) | |
| X | g.154030079A>C | CA873291318 | MECP2 | c.*288T>G (n.*288T>G) c.*215T>G (n.*215T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030079A>G | CA873291319 | MECP2 | c.*288T>C (n.*288T>C) c.*215T>C (n.*215T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030080G>C | CA2695099037 | MECP2 | c.*287C>G (n.*287C>G) c.*214C>G (n.*214C>G) | gnomAD v4 |
| X | g.154030082A= | CA2466569899 | MECP2 | c.*285T= (n.*285T=) c.*212T= (n.*212T=) | |
| X | g.154030082A>G | CA873291320 | MECP2 | c.*285T>C (n.*285T>C) c.*212T>C (n.*212T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030083T>C | CA2824281062 | MECP2 | c.*284A>G (n.*284A>G) c.*211A>G (n.*211A>G) | |
| X | g.154030084C>A | CA2695099039 | MECP2 | c.*283G>T (n.*283G>T) c.*210G>T (n.*210G>T) | gnomAD v4 |
| X | g.154030084C= | CA2466569900 | MECP2 | c.*283G= (n.*283G=) c.*210G= (n.*210G=) | |
| X | g.154030084C>G | CA337261518 | MECP2 | c.*283G>C (n.*283G>C) c.*210G>C (n.*210G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030085_154030087del | CA2695099038 | MECP2 | c.*281_*283del (n.*281_*283del) c.*208_*210del (n.*208_*210del) | gnomAD v4 |
| X | g.154030086G>A | CA2695099042 | MECP2 | c.*281C>T (n.*281C>T) c.*208C>T (n.*208C>T) | gnomAD v4 |
| X | g.154030086G>T | CA2695099043 | MECP2 | c.*281C>A (n.*281C>A) c.*208C>A (n.*208C>A) | gnomAD v4 |
| X | g.154030087C>A | CA337261526 | MECP2 | c.*280G>T (n.*280G>T) c.*207G>T (n.*207G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030087C= | CA2466569901 | MECP2 | c.*280G= (n.*280G=) c.*207G= (n.*207G=) | |
| X | g.154030087C>T | CA337261533 | MECP2 | c.*280G>A (n.*280G>A) c.*207G>A (n.*207G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030090C>A | CA2695099051 | MECP2 | c.*277G>T (n.*277G>T) c.*204G>T (n.*204G>T) | gnomAD v4 |
| X | g.154030090C= | CA2466569902 | MECP2 | c.*277G= (n.*277G=) c.*204G= (n.*204G=) | |
| X | g.154030090C>G | CA337261537 | MECP2 | c.*277G>C (n.*277G>C) c.*204G>C (n.*204G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030090C>T | CA873291323 | MECP2 | c.*277G>A (n.*277G>A) c.*204G>A (n.*204G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030091A= | CA2466569903 | MECP2 | c.*276T= (n.*276T=) c.*203T= (n.*203T=) | |
| X | g.154030091A>G | CA1138553570 | MECP2 | c.*276T>C (n.*276T>C) c.*203T>C (n.*203T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030092A= | CA2466569904 | MECP2 | c.*275T= (n.*275T=) c.*202T= (n.*202T=) | |
| X | g.154030092A>G | CA873291324 | MECP2 | c.*275T>C (n.*275T>C) c.*202T>C (n.*202T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030093G>C | CA2499439203 | MECP2 | c.*274C>G (n.*274C>G) c.*201C>G (n.*201C>G) | |
| X | g.154030093G>T | CA2695099056 | MECP2 | c.*274C>A (n.*274C>A) c.*201C>A (n.*201C>A) | gnomAD v4 |
| X | g.154030093_154030094delinsGC | CA2466569905 | MECP2 | c.*273_*274delinsGC (n.*273_*274delinsGC) c.*200_*201delinsGC (n.*200_*201delinsGC) | |
| X | g.154030094C>A | CA1138553571 | MECP2 | c.*273G>T (n.*273G>T) c.*200G>T (n.*200G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030094C= | CA2466569907 | MECP2 | c.*273G= (n.*273G=) c.*200G= (n.*200G=) | |
| X | g.154030094C>G | CA873291327 | MECP2 | c.*273G>C (n.*273G>C) c.*200G>C (n.*200G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030094C>T | CA873291328 | MECP2 | c.*273G>A (n.*273G>A) c.*200G>A (n.*200G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030095del | CA2466569906 | MECP2 | c.*273del (n.*273del) c.*200del (n.*200del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030095C>A | CA873291330 | MECP2 | c.*272G>T (n.*272G>T) c.*199G>T (n.*199G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030095C= | CA2466569908 | MECP2 | c.*272G= (n.*272G=) c.*199G= (n.*199G=) | |
| X | g.154030095C>G | CA645289903 | MECP2 | c.*272G>C (n.*272G>C) c.*199G>C (n.*199G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030096T>C | CA2695099066 | MECP2 | c.*271A>G (n.*271A>G) c.*198A>G (n.*198A>G) | gnomAD v4 |
| X | g.154030099_154030101del | CA2824281071 | MECP2 | c.*269_*271del (n.*269_*271del) c.*196_*198del (n.*196_*198del) | |
| X | g.154030097T>A | CA2466569910 | MECP2 | c.*270A>T (n.*270A>T) c.*197A>T (n.*197A>T) | dbSNP gnomAD v4 |
| X | g.154030097T= | CA2466569909 | MECP2 | c.*270A= (n.*270A=) c.*197A= (n.*197A=) | |
| X | g.154030098G>A | CA2695099070 | MECP2 | c.*269C>T (n.*269C>T) c.*196C>T (n.*196C>T) | gnomAD v4 |
| X | g.154030098G= | CA2466569911 | MECP2 | c.*269C= (n.*269C=) c.*196C= (n.*196C=) | |
| X | g.154030098G>T | CA873291332 | MECP2 | c.*269C>A (n.*269C>A) c.*196C>A (n.*196C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030099T>C | CA337261547 | MECP2 | c.*268A>G (n.*268A>G) c.*195A>G (n.*195A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030099T= | CA2466569912 | MECP2 | c.*268A= (n.*268A=) c.*195A= (n.*195A=) | |
| X | g.154030101G>A | CA2695099076 | MECP2 | c.*266C>T (n.*266C>T) c.*193C>T (n.*193C>T) | gnomAD v4 |
| X | g.154030101G>T | CA2695099078 | MECP2 | c.*266C>A (n.*266C>A) c.*193C>A (n.*193C>A) | gnomAD v4 |
| X | g.154030102A= | CA2466569913 | MECP2 | c.*265T= (n.*265T=) c.*192T= (n.*192T=) | |
| X | g.154030102A>G | CA2695099079 | MECP2 | c.*265T>C (n.*265T>C) c.*192T>C (n.*192T>C) | gnomAD v4 |
| X | g.154030102A>T | CA873291335 | MECP2 | c.*265T>A (n.*265T>A) c.*192T>A (n.*192T>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030103A= | CA2466569914 | MECP2 | c.*264T= (n.*264T=) c.*191T= (n.*191T=) | |
| X | g.154030103A>G | CA2466569915 | MECP2 | c.*264T>C (n.*264T>C) c.*191T>C (n.*191T>C) | dbSNP |
| X | g.154030104G>C | CA873291337 | MECP2 | c.*263C>G (n.*263C>G) c.*190C>G (n.*190C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030104G= | CA2466569916 | MECP2 | c.*263C= (n.*263C=) c.*190C= (n.*190C=) | |
| X | g.154030105G>A | CA2824281073 | MECP2 | c.*262C>T (n.*262C>T) c.*189C>T (n.*189C>T) | |
| X | g.154030105G>T | CA2695099081 | MECP2 | c.*262C>A (n.*262C>A) c.*189C>A (n.*189C>A) | gnomAD v4 |
| 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.154030107G>A | CA337261552 | MECP2 | c.*260C>T (n.*260C>T) c.*187C>T (n.*187C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030107G>C | CA1138553572 | MECP2 | c.*260C>G (n.*260C>G) c.*187C>G (n.*187C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030107G= | CA2466569918 | MECP2 | c.*260C= (n.*260C=) c.*187C= (n.*187C=) | |
| X | g.154030107G>T | CA2695099083 | MECP2 | c.*260C>A (n.*260C>A) c.*187C>A (n.*187C>A) | gnomAD v4 |
| X | g.154030108C>A | CA2695099088 | MECP2 | c.*259G>T (n.*259G>T) c.*186G>T (n.*186G>T) | gnomAD v4 |
| X | g.154030108C= | CA2466569919 | MECP2 | c.*259G= (n.*259G=) c.*186G= (n.*186G=) | |
| X | g.154030108C>G | CA873291340 | MECP2 | c.*259G>C (n.*259G>C) c.*186G>C (n.*186G>C) | dbSNP gnomAD v4 |
| X | g.154030109C= | CA2466569920 | MECP2 | c.*258G= (n.*258G=) c.*185G= (n.*185G=) | |
| X | g.154030109C>G | CA337261553 | MECP2 | c.*258G>C (n.*258G>C) c.*185G>C (n.*185G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030110T>C | CA2824281080 | MECP2 | c.*257A>G (n.*257A>G) c.*184A>G (n.*184A>G) | |
| X | g.154030111A= | CA2466569921 | MECP2 | c.*256T= (n.*256T=) c.*183T= (n.*183T=) | |
| X | g.154030111A>C | CA2466569922 | MECP2 | c.*256T>G (n.*256T>G) c.*183T>G (n.*183T>G) | dbSNP |
| X | g.154030113T>C | CA2695099092 | MECP2 | c.*254A>G (n.*254A>G) c.*181A>G (n.*181A>G) | gnomAD v4 |
| X | g.154030114T>G | CA2466569924 | MECP2 | c.*253A>C (n.*253A>C) c.*180A>C (n.*180A>C) | dbSNP gnomAD v4 |
| X | g.154030114T= | CA2466569923 | MECP2 | c.*253A= (n.*253A=) c.*180A= (n.*180A=) | |
| X | g.154030117_154030118delinsGA | CA2466569925 | MECP2 | c.*249_*250delinsTC (n.*249_*250delinsTC) c.*176_*177delinsTC (n.*176_*177delinsTC) | |
| X | g.154030118A= | CA2466569926 | MECP2 | c.*249T= (n.*249T=) c.*176T= (n.*176T=) | |
| X | g.154030118A>C | CA2824281083 | MECP2 | c.*249T>G (n.*249T>G) c.*176T>G (n.*176T>G) | |
| X | g.154030118A>G | CA337261554 | MECP2 | c.*249T>C (n.*249T>C) c.*176T>C (n.*176T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030118A>T | CA2695099094 | MECP2 | c.*249T>A (n.*249T>A) c.*176T>A (n.*176T>A) | gnomAD v4 |
| X | g.154030121del | CA873291343 | MECP2 | c.*249del (n.*249del) c.*176del (n.*176del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030119A>G | CA2695099096 | MECP2 | c.*248T>C (n.*248T>C) c.*175T>C (n.*175T>C) | gnomAD v4 |
| X | g.154030121A= | CA2466569927 | MECP2 | c.*246T= (n.*246T=) c.*173T= (n.*173T=) | |
| X | g.154030121A>C | CA2558129586 | MECP2 | c.*246T>G (n.*246T>G) c.*173T>G (n.*173T>G) | |
| X | g.154030121A>G | CA645289904 | MECP2 | c.*246T>C (n.*246T>C) c.*173T>C (n.*173T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030123T>A | CA2695099098 | MECP2 | c.*244A>T (n.*244A>T) c.*171A>T (n.*171A>T) | gnomAD v4 |
| X | g.154030123T>C | CA873291344 | MECP2 | c.*244A>G (n.*244A>G) c.*171A>G (n.*171A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030123T= | CA2466569928 | MECP2 | c.*244A= (n.*244A=) c.*171A= (n.*171A=) | |
| X | g.154030124G>A | CA2695099102 | MECP2 | c.*243C>T (n.*243C>T) c.*170C>T (n.*170C>T) | gnomAD v4 |
| X | g.154030124G>T | CA2695099103 | MECP2 | c.*243C>A (n.*243C>A) c.*170C>A (n.*170C>A) | gnomAD v4 |
| X | g.154030125C= | CA2466569929 | MECP2 | c.*242G= (n.*242G=) c.*169G= (n.*169G=) | |
| X | g.154030125C>G | CA645289905 | MECP2 | c.*242G>C (n.*242G>C) c.*169G>C (n.*169G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030125C>T | CA2695099105 | MECP2 | c.*242G>A (n.*242G>A) c.*169G>A (n.*169G>A) | gnomAD v4 |
| X | g.154030125_154030126insT | CA2695099110 | MECP2 | c.*241_*242insA (n.*241_*242insA) c.*168_*169insA (n.*168_*169insA) | gnomAD v4 |
| X | g.154030126A>G | CA2695099111 | MECP2 | c.*241T>C (n.*241T>C) c.*168T>C (n.*168T>C) | gnomAD v4 |
| X | g.154030129G>A | CA2695099113 | MECP2 | c.*238C>T (n.*238C>T) c.*165C>T (n.*165C>T) | gnomAD v4 |
| X | g.154030130C= | CA2466569930 | MECP2 | c.*237G= (n.*237G=) c.*164G= (n.*164G=) | |
| X | g.154030130C>G | CA2466569931 | MECP2 | c.*237G>C (n.*237G>C) c.*164G>C (n.*164G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030132A>C | CA2695099118 | MECP2 | c.*235T>G (n.*235T>G) c.*162T>G (n.*162T>G) | gnomAD v4 |
| X | g.154030132A>G | CA2695099120 | MECP2 | c.*235T>C (n.*235T>C) c.*162T>C (n.*162T>C) | gnomAD v4 |
| X | g.154030132A>T | CA2695099121 | MECP2 | c.*235T>A (n.*235T>A) c.*162T>A (n.*162T>A) | gnomAD v4 |
| X | g.154030133C>A | CA2695099122 | MECP2 | c.*234G>T (n.*234G>T) c.*161G>T (n.*161G>T) | gnomAD v4 |
| X | g.154030133C>G | CA2695099123 | MECP2 | c.*234G>C (n.*234G>C) c.*161G>C (n.*161G>C) | gnomAD v4 |
| X | g.154030133C>T | CA2695099124 | MECP2 | c.*234G>A (n.*234G>A) c.*161G>A (n.*161G>A) | gnomAD v4 |
| X | g.154030135T>C | CA915938734 | MECP2 | c.*232A>G (n.*232A>G) c.*159A>G (n.*159A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030135T= | CA2466569932 | MECP2 | c.*232A= (n.*232A=) c.*159A= (n.*159A=) | |
| X | g.154030136C= | CA2466569933 | MECP2 | c.*231G= (n.*231G=) c.*158G= (n.*158G=) | |
| X | g.154030136C>G | CA873291346 | MECP2 | c.*231G>C (n.*231G>C) c.*158G>C (n.*158G>C) | dbSNP gnomAD v4 |
| X | g.154030136C>T | CA2695099128 | MECP2 | c.*231G>A (n.*231G>A) c.*158G>A (n.*158G>A) | gnomAD v4 |
| X | g.154030137T>C | CA2695099130 | MECP2 | c.*230A>G (n.*230A>G) c.*157A>G (n.*157A>G) | gnomAD v4 |
| X | g.154030138G>C | CA2695099131 | MECP2 | c.*229C>G (n.*229C>G) c.*156C>G (n.*156C>G) | gnomAD v4 |
| X | g.154030139G>A | CA2695099133 | MECP2 | c.*228C>T (n.*228C>T) c.*155C>T (n.*155C>T) | gnomAD v4 |
| X | g.154030140C>A | CA2695099134 | MECP2 | c.*227G>T (n.*227G>T) c.*154G>T (n.*154G>T) | gnomAD v4 |
| X | g.154030140C= | CA2466569934 | MECP2 | c.*227G= (n.*227G=) c.*154G= (n.*154G=) | |
| X | g.154030140C>G | CA645289906 | MECP2 | c.*227G>C (n.*227G>C) c.*154G>C (n.*154G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030140C>T | CA645289907 | MECP2 | c.*227G>A (n.*227G>A) c.*154G>A (n.*154G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154030141C>A | CA873291351 | MECP2 | c.*226G>T (n.*226G>T) c.*153G>T (n.*153G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030141C= | CA2466569937 | MECP2 | c.*226G= (n.*226G=) c.*153G= (n.*153G=) | |
| X | g.154030141C>G | CA2466569936 | MECP2 | c.*226G>C (n.*226G>C) c.*153G>C (n.*153G>C) | dbSNP gnomAD v4 |
| X | g.154030141C>T | CA2466569935 | MECP2 | c.*226G>A (n.*226G>A) c.*153G>A (n.*153G>A) | dbSNP |
| X | g.154030142C>A | CA2695099138 | MECP2 | c.*225G>T (n.*225G>T) c.*152G>T (n.*152G>T) | gnomAD v4 |
| X | g.154030142C= | CA2466569938 | MECP2 | c.*225G= (n.*225G=) c.*152G= (n.*152G=) | |
| X | g.154030142C>G | CA873291352 | MECP2 | c.*225G>C (n.*225G>C) c.*152G>C (n.*152G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030142C>T | CA2695099140 | MECP2 | c.*225G>A (n.*225G>A) c.*152G>A (n.*152G>A) | gnomAD v4 |
| X | g.154030144G>C | CA2695099142 | MECP2 | c.*223C>G (n.*223C>G) c.*150C>G (n.*150C>G) | gnomAD v4 |
| X | g.154030144G>T | CA2695099144 | MECP2 | c.*223C>A (n.*223C>A) c.*150C>A (n.*150C>A) | gnomAD v4 |
| X | g.154030145G>A | CA2824281091 | MECP2 | c.*222C>T (n.*222C>T) c.*149C>T (n.*149C>T) | |
| X | g.154030145G>C | CA2695099146 | MECP2 | c.*222C>G (n.*222C>G) c.*149C>G (n.*149C>G) | gnomAD v4 |
| X | g.154030145G>T | CA2824281093 | MECP2 | c.*222C>A (n.*222C>A) c.*149C>A (n.*149C>A) | |
| X | g.154030146T>C | CA2695099148 | MECP2 | c.*221A>G (n.*221A>G) c.*148A>G (n.*148A>G) | gnomAD v4 |
| X | g.154030148A= | CA2466569939 | MECP2 | c.*219T= (n.*219T=) c.*146T= (n.*146T=) | |
| X | g.154030148A>G | CA873291353 | MECP2 | c.*219T>C (n.*219T>C) c.*146T>C (n.*146T>C) | dbSNP gnomAD v4 |
| X | g.154030148A>T | CA2695099152 | MECP2 | c.*219T>A (n.*219T>A) c.*146T>A (n.*146T>A) | gnomAD v4 |
| X | g.154030149G>T | CA2501124918 | MECP2 | c.*218C>A (n.*218C>A) c.*145C>A (n.*145C>A) | gnomAD v4 |
| X | g.154030150G>T | CA2695099156 | MECP2 | c.*217C>A (n.*217C>A) c.*144C>A (n.*144C>A) | gnomAD v4 |
| X | g.154030151T>A | CA2695099158 | MECP2 | c.*216A>T (n.*216A>T) c.*143A>T (n.*143A>T) | gnomAD v4 |
| X | g.154030151T>C | CA2824281096 | MECP2 | c.*216A>G (n.*216A>G) c.*143A>G (n.*143A>G) | |
| X | g.154030152C= | CA2466569940 | MECP2 | c.*215G= (n.*215G=) c.*142G= (n.*142G=) | |
| X | g.154030152C>G | CA2466569941 | MECP2 | c.*215G>C (n.*215G>C) c.*142G>C (n.*142G>C) | dbSNP gnomAD v4 |
| X | g.154030152C>T | CA2695099160 | MECP2 | c.*215G>A (n.*215G>A) c.*142G>A (n.*142G>A) | gnomAD v4 |