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.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 |
| X | g.154030154T>C | CA2695099162 | MECP2 | c.*213A>G (n.*213A>G) c.*140A>G (n.*140A>G) | gnomAD v4 |
| X | g.154030155C>A | CA2695099163 | MECP2 | c.*212G>T (n.*212G>T) c.*139G>T (n.*139G>T) | gnomAD v4 |
| X | g.154030155C= | CA2466569942 | MECP2 | c.*212G= (n.*212G=) c.*139G= (n.*139G=) | |
| X | g.154030155C>T | CA2466569943 | MECP2 | c.*212G>A (n.*212G>A) c.*139G>A (n.*139G>A) | dbSNP gnomAD v4 |
| X | g.154030156A= | CA2466569944 | MECP2 | c.*211T= (n.*211T=) c.*138T= (n.*138T=) | |
| X | g.154030156A>T | CA1138553574 | MECP2 | c.*211T>A (n.*211T>A) c.*138T>A (n.*138T>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030157A= | CA2466569946 | MECP2 | c.*210T= (n.*210T=) c.*137T= (n.*137T=) | |
| X | g.154030157A>C | CA2466569945 | MECP2 | c.*210T>G (n.*210T>G) c.*137T>G (n.*137T>G) | dbSNP |
| X | g.154030157A>G | CA337261556 | MECP2 | c.*210T>C (n.*210T>C) c.*137T>C (n.*137T>C) | dbSNP |
| X | g.154030158C>A | CA2695099164 | MECP2 | c.*209G>T (n.*209G>T) c.*136G>T (n.*136G>T) | gnomAD v4 |
| X | g.154030158C= | CA2466569947 | MECP2 | c.*209G= (n.*209G=) c.*136G= (n.*136G=) | |
| X | g.154030158C>G | CA873291355 | MECP2 | c.*209G>C (n.*209G>C) c.*136G>C (n.*136G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030158C>T | CA2466569948 | MECP2 | c.*209G>A (n.*209G>A) c.*136G>A (n.*136G>A) | dbSNP gnomAD v4 |
| X | g.154030159C>A | CA2695099165 | MECP2 | c.*208G>T (n.*208G>T) c.*135G>T (n.*135G>T) | gnomAD v4 |
| X | g.154030159C= | CA2466569949 | MECP2 | c.*208G= (n.*208G=) c.*135G= (n.*135G=) | |
| X | g.154030159C>G | CA2466569950 | MECP2 | c.*208G>C (n.*208G>C) c.*135G>C (n.*135G>C) | dbSNP gnomAD v4 |
| X | g.154030161G>A | CA2695099166 | MECP2 | c.*206C>T (n.*206C>T) c.*133C>T (n.*133C>T) | dbSNP gnomAD v4 |
| X | g.154030161G>C | CA873291356 | MECP2 | c.*206C>G (n.*206C>G) c.*133C>G (n.*133C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030161G= | CA2466569951 | MECP2 | c.*206C= (n.*206C=) c.*133C= (n.*133C=) | |
| X | g.154030161G>T | CA2695099167 | MECP2 | c.*206C>A (n.*206C>A) c.*133C>A (n.*133C>A) | gnomAD v4 |
| X | g.154030162A>G | CA2695099168 | MECP2 | c.*205T>C (n.*205T>C) c.*132T>C (n.*132T>C) | gnomAD v4 |
| X | g.154030163C= | CA2466569952 | MECP2 | c.*204G= (n.*204G=) c.*131G= (n.*131G=) | |
| X | g.154030163C>G | CA2695099169 | MECP2 | c.*204G>C (n.*204G>C) c.*131G>C (n.*131G>C) | gnomAD v4 |
| X | g.154030163C>T | CA170114 | MECP2 | c.*204G>A (n.*204G>A) c.*131G>A (n.*131G>A) | ClinVar dbSNP |
| X | g.154030165G>A | CA2695099171 | MECP2 | c.*202C>T (n.*202C>T) c.*129C>T (n.*129C>T) | gnomAD v4 |
| X | g.154030165G>C | CA2695099173 | MECP2 | c.*202C>G (n.*202C>G) c.*129C>G (n.*129C>G) | gnomAD v4 |
| X | g.154030165G>T | CA2695099174 | MECP2 | c.*202C>A (n.*202C>A) c.*129C>A (n.*129C>A) | gnomAD v4 |
| X | g.154030166T>C | CA873291358 | MECP2 | c.*201A>G (n.*201A>G) c.*128A>G (n.*128A>G) | dbSNP gnomAD v4 |
| X | g.154030166T= | CA2466569953 | MECP2 | c.*201A= (n.*201A=) c.*128A= (n.*128A=) | |
| X | g.154030167G>C | CA2695099175 | MECP2 | c.*200C>G (n.*200C>G) c.*127C>G (n.*127C>G) | gnomAD v4 |
| X | g.154030167G>T | CA2695099176 | MECP2 | c.*200C>A (n.*200C>A) c.*127C>A (n.*127C>A) | gnomAD v4 |
| X | g.154030168C= | CA2466569954 | MECP2 | c.*199G= (n.*199G=) c.*126G= (n.*126G=) | |
| X | g.154030168C>G | CA2466569955 | MECP2 | c.*199G>C (n.*199G>C) c.*126G>C (n.*126G>C) | dbSNP |
| X | g.154030168C>T | CA2695099177 | MECP2 | c.*199G>A (n.*199G>A) c.*126G>A (n.*126G>A) | gnomAD v4 |
| X | g.154030169T>C | CA2695099178 | MECP2 | c.*198A>G (n.*198A>G) c.*125A>G (n.*125A>G) | gnomAD v4 |
| X | g.154030170T>C | CA2695099179 | MECP2 | c.*197A>G (n.*197A>G) c.*124A>G (n.*124A>G) | gnomAD v4 |
| X | g.154030170T>G | CA2695099180 | MECP2 | c.*197A>C (n.*197A>C) c.*124A>C (n.*124A>C) | gnomAD v4 |
| X | g.154030171G>A | CA2695099181 | MECP2 | c.*196C>T (n.*196C>T) c.*123C>T (n.*123C>T) | gnomAD v4 |
| X | g.154030171G>C | CA2695099182 | MECP2 | c.*196C>G (n.*196C>G) c.*123C>G (n.*123C>G) | gnomAD v4 |
| X | g.154030171G>T | CA2695099183 | MECP2 | c.*196C>A (n.*196C>A) c.*123C>A (n.*123C>A) | gnomAD v4 |
| X | g.154030172T>C | CA337261557 | MECP2 | c.*195A>G (n.*195A>G) c.*122A>G (n.*122A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030172T= | CA2466569956 | MECP2 | c.*195A= (n.*195A=) c.*122A= (n.*122A=) | |
| X | g.154030173C>A | CA2695099184 | MECP2 | c.*194G>T (n.*194G>T) c.*121G>T (n.*121G>T) | gnomAD v4 |
| X | g.154030173C= | CA2466569957 | MECP2 | c.*194G= (n.*194G=) c.*121G= (n.*121G=) | |
| X | g.154030173C>T | CA337261562 | MECP2 | c.*194G>A (n.*194G>A) c.*121G>A (n.*121G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030174G>A | CA2466569959 | MECP2 | c.*193C>T (n.*193C>T) c.*120C>T (n.*120C>T) | dbSNP gnomAD v4 |
| X | g.154030174G>C | CA337261574 | MECP2 | c.*193C>G (n.*193C>G) c.*120C>G (n.*120C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030174G= | CA2466569958 | MECP2 | c.*193C= (n.*193C=) c.*120C= (n.*120C=) | |
| X | g.154030174G>T | CA2695099185 | MECP2 | c.*193C>A (n.*193C>A) c.*120C>A (n.*120C>A) | gnomAD v4 |
| X | g.154030175G>A | CA2695099187 | MECP2 | c.*192C>T (n.*192C>T) c.*119C>T (n.*119C>T) | gnomAD v4 |
| X | g.154030175G>C | CA2695099189 | MECP2 | c.*192C>G (n.*192C>G) c.*119C>G (n.*119C>G) | gnomAD v4 |
| X | g.154030175G>T | CA2695099188 | MECP2 | c.*192C>A (n.*192C>A) c.*119C>A (n.*119C>A) | gnomAD v4 |
| X | g.154030177A>C | CA2695099191 | MECP2 | c.*190T>G (n.*190T>G) c.*117T>G (n.*117T>G) | gnomAD v4 |
| X | g.154030177A>T | CA2695099192 | MECP2 | c.*190T>A (n.*190T>A) c.*117T>A (n.*117T>A) | gnomAD v4 |
| X | g.154030178del | CA2695099190 | MECP2 | c.*190del (n.*190del) c.*117del (n.*117del) | gnomAD v4 |
| X | g.154030178A>C | CA2695099193 | MECP2 | c.*189T>G (n.*189T>G) c.*116T>G (n.*116T>G) | gnomAD v4 |
| X | g.154030178A>G | CA2695099194 | MECP2 | c.*189T>C (n.*189T>C) c.*116T>C (n.*116T>C) | gnomAD v4 |
| X | g.154030179G>C | CA2695099195 | MECP2 | c.*188C>G (n.*188C>G) c.*115C>G (n.*115C>G) | gnomAD v4 |
| X | g.154030181A>G | CA2695099196 | MECP2 | c.*186T>C (n.*186T>C) c.*113T>C (n.*113T>C) | gnomAD v4 |
| X | g.154030182A= | CA2466569960 | MECP2 | c.*185T= (n.*185T=) c.*112T= (n.*112T=) | |
| X | g.154030182A>C | CA2695099197 | MECP2 | c.*185T>G (n.*185T>G) c.*112T>G (n.*112T>G) | gnomAD v4 |
| X | g.154030182A>G | CA2466569961 | MECP2 | c.*185T>C (n.*185T>C) c.*112T>C (n.*112T>C) | dbSNP gnomAD v4 |
| X | g.154030183A>G | CA2695099198 | MECP2 | c.*184T>C (n.*184T>C) c.*111T>C (n.*111T>C) | gnomAD v4 |
| X | g.154030184A= | CA2466569962 | MECP2 | c.*183T= (n.*183T=) c.*110T= (n.*110T=) | |
| X | g.154030184A>C | CA873291361 | MECP2 | c.*183T>G (n.*183T>G) c.*110T>G (n.*110T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030184A>G | CA337261580 | MECP2 | c.*183T>C (n.*183T>C) c.*110T>C (n.*110T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030184A>T | CA2695099202 | MECP2 | c.*183T>A (n.*183T>A) c.*110T>A (n.*110T>A) | gnomAD v4 |
| X | g.154030185C>A | CA2695099209 | MECP2 | c.*182G>T (n.*182G>T) c.*109G>T (n.*109G>T) | gnomAD v4 |
| X | g.154030185C>T | CA2695099208 | MECP2 | c.*182G>A (n.*182G>A) c.*109G>A (n.*109G>A) | gnomAD v4 |
| X | g.154030188C>A | CA2695099210 | MECP2 | c.*179G>T (n.*179G>T) c.*106G>T (n.*106G>T) | gnomAD v4 |
| X | g.154030189C>G | CA2695099211 | MECP2 | c.*178G>C (n.*178G>C) c.*105G>C (n.*105G>C) | gnomAD v4 |
| X | g.154030190C>A | CA2695099213 | MECP2 | c.*177G>T (n.*177G>T) c.*104G>T (n.*104G>T) | gnomAD v4 |
| X | g.154030190C= | CA2466569963 | MECP2 | c.*177G= (n.*177G=) c.*104G= (n.*104G=) | |
| X | g.154030190C>G | CA170113 | MECP2 | c.*177G>C (n.*177G>C) c.*104G>C (n.*104G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030190C>T | CA873291365 | MECP2 | c.*177G>A (n.*177G>A) c.*104G>A (n.*104G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030191C>A | CA1138553577 | MECP2 | c.*176G>T (n.*176G>T) c.*103G>T (n.*103G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030191C= | CA2466569964 | MECP2 | c.*176G= (n.*176G=) c.*103G= (n.*103G=) | |
| X | g.154030191C>G | CA645289908 | MECP2 | c.*176G>C (n.*176G>C) c.*103G>C (n.*103G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030191C>T | CA519704529 | MECP2 | c.*176G>A (n.*176G>A) c.*103G>A (n.*103G>A) | gnomAD v4 |
| X | g.154030191_154030192delinsCA | CA2466569965 | MECP2 | c.*175_*176delinsTG (n.*175_*176delinsTG) c.*102_*103delinsTG (n.*102_*103delinsTG) | |
| X | g.154030192A>C | CA2695099219 | MECP2 | c.*175T>G (n.*175T>G) c.*102T>G (n.*102T>G) | gnomAD v4 |
| X | g.154030193del | CA2466569966 | MECP2 | c.*175del (n.*175del) c.*102del (n.*102del) | dbSNP |
| X | g.154030193A= | CA2466569967 | MECP2 | c.*174T= (n.*174T=) c.*101T= (n.*101T=) | |
| X | g.154030193A>C | CA2824281102 | MECP2 | c.*174T>G (n.*174T>G) c.*101T>G (n.*101T>G) | |
| X | g.154030193A>G | CA337261591 | MECP2 | c.*174T>C (n.*174T>C) c.*101T>C (n.*101T>C) | dbSNP gnomAD v3 gnomAD v4 |