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.154029923_154029931del | CA2695098721 | MECP2 | c.*443_*451del (n.*443_*451del) c.*370_*378del (n.*370_*378del) | gnomAD v4 |
| X | g.154029925_154029934dup | CA873291192 | MECP2 | c.*440_*449dup (n.*440_*449dup) c.*367_*376dup (n.*367_*376dup) | dbSNP gnomAD v4 |
| X | g.154029924G>A | CA337261284 | MECP2 | c.*443C>T (n.*443C>T) c.*370C>T (n.*370C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029924G= | CA2466569783 | MECP2 | c.*443C= (n.*443C=) c.*370C= (n.*370C=) | |
| X | g.154029925G= | CA2466569784 | MECP2 | c.*442C= (n.*442C=) c.*369C= (n.*369C=) | |
| X | g.154029925G>T | CA2695098743 | MECP2 | c.*442C>A (n.*442C>A) c.*369C>A (n.*369C>A) | gnomAD v4 |
| X | g.154029926T>C | CA2695098749 | MECP2 | c.*441A>G (n.*441A>G) c.*368A>G (n.*368A>G) | gnomAD v4 |
| X | g.154029926T>G | CA2695098747 | MECP2 | c.*441A>C (n.*441A>C) c.*368A>C (n.*368A>C) | gnomAD v4 |
| X | g.154029932_154029941dup | CA873291208 | MECP2 | c.*432_*441dup (n.*432_*441dup) c.*359_*368dup (n.*359_*368dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029932_154029941del | CA2695098745 | MECP2 | c.*432_*441del (n.*432_*441del) c.*359_*368del (n.*359_*368del) | gnomAD v4 |
| X | g.154029927G>C | CA337261286 | MECP2 | c.*440C>G (n.*440C>G) c.*367C>G (n.*367C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029927G= | CA2466569785 | MECP2 | c.*440C= (n.*440C=) c.*367C= (n.*367C=) | |
| X | g.154029927G>T | CA2695098759 | MECP2 | c.*440C>A (n.*440C>A) c.*367C>A (n.*367C>A) | gnomAD v4 |
| X | g.154029932dup | CA2529906082 | MECP2 | c.*440dup (n.*440dup) c.*367dup (n.*367dup) | gnomAD v4 |
| X | g.154029932del | CA2695098757 | MECP2 | c.*440del (n.*440del) c.*367del (n.*367del) | gnomAD v4 |
| X | g.154029927_154029936delinsGGGGGGAGCT | CA2466569786 | MECP2 | c.*431_*440delinsAGCTCCCCCC (n.*431_*440delinsAGCTCCCCCC) c.*358_*367delinsAGCTCCCCCC (n.*358_*367delinsAGCTCCCCCC) | |
| X | g.154029930_154030047del | CA2695098758 | MECP2 | c.*323_*440del (n.*323_*440del) c.*250_*367del (n.*250_*367del) | gnomAD v4 |
| X | g.154029928G>C | CA1138553537 | MECP2 | c.*439C>G (n.*439C>G) c.*366C>G (n.*366C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029928G= | CA2466569787 | MECP2 | c.*439C= (n.*439C=) c.*366C= (n.*366C=) | |
| X | g.154029938_154029946dup | CA645169061 | MECP2 | c.*431_*439dup (n.*431_*439dup) c.*358_*366dup (n.*358_*366dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029938_154029946del | CA873291212 | MECP2 | c.*431_*439del (n.*431_*439del) c.*358_*366del (n.*358_*366del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029929G>A | CA2695098762 | MECP2 | c.*438C>T (n.*438C>T) c.*365C>T (n.*365C>T) | gnomAD v4 |
| X | g.154029929G>C | CA2695098763 | MECP2 | c.*438C>G (n.*438C>G) c.*365C>G (n.*365C>G) | gnomAD v4 |
| X | g.154029930G>C | CA1138553538 | MECP2 | c.*437C>G (n.*437C>G) c.*364C>G (n.*364C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029930G= | CA2466569788 | MECP2 | c.*437C= (n.*437C=) c.*364C= (n.*364C=) | |
| X | g.154029930G>T | CA2695098764 | MECP2 | c.*437C>A (n.*437C>A) c.*364C>A (n.*364C>A) | gnomAD v4 |
| X | g.154029931G>A | CA2466569790 | MECP2 | c.*436C>T (n.*436C>T) c.*363C>T (n.*363C>T) | dbSNP gnomAD v4 |
| X | g.154029931G>C | CA2695098765 | MECP2 | c.*436C>G (n.*436C>G) c.*363C>G (n.*363C>G) | gnomAD v4 |
| X | g.154029931G= | CA2466569789 | MECP2 | c.*436C= (n.*436C=) c.*363C= (n.*363C=) | |
| X | g.154029931G>T | CA2552678539 | MECP2 | c.*436C>A (n.*436C>A) c.*363C>A (n.*363C>A) | |
| X | g.154029932G>A | CA873291213 | MECP2 | c.*435C>T (n.*435C>T) c.*362C>T (n.*362C>T) | dbSNP gnomAD v4 |
| X | g.154029932G>C | CA873291215 | MECP2 | c.*435C>G (n.*435C>G) c.*362C>G (n.*362C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029932G= | CA2466569791 | MECP2 | c.*435C= (n.*435C=) c.*362C= (n.*362C=) | |
| X | g.154029932G>T | CA2695098766 | MECP2 | c.*435C>A (n.*435C>A) c.*362C>A (n.*362C>A) | gnomAD v4 |
| X | g.154029933A= | CA2466569792 | MECP2 | c.*434T= (n.*434T=) c.*361T= (n.*361T=) | |
| X | g.154029933A>C | CA2466569793 | MECP2 | c.*434T>G (n.*434T>G) c.*361T>G (n.*361T>G) | dbSNP gnomAD v4 |
| X | g.154029933A>G | CA873291217 | MECP2 | c.*434T>C (n.*434T>C) c.*361T>C (n.*361T>C) | dbSNP gnomAD v4 |
| X | g.154029934G>A | CA2695098767 | MECP2 | c.*433C>T (n.*433C>T) c.*360C>T (n.*360C>T) | gnomAD v4 |
| X | g.154029934G>C | CA873291219 | MECP2 | c.*433C>G (n.*433C>G) c.*360C>G (n.*360C>G) | dbSNP |
| X | g.154029934G= | CA2466569794 | MECP2 | c.*433C= (n.*433C=) c.*360C= (n.*360C=) | |
| X | g.154029934G>T | CA2695098768 | MECP2 | c.*433C>A (n.*433C>A) c.*360C>A (n.*360C>A) | gnomAD v4 |
| X | g.154029935C>A | CA2466569796 | MECP2 | c.*432G>T (n.*432G>T) c.*359G>T (n.*359G>T) | dbSNP |
| X | g.154029935C= | CA2466569797 | MECP2 | c.*432G= (n.*432G=) c.*359G= (n.*359G=) | |
| X | g.154029935C>G | CA2466569795 | MECP2 | c.*432G>C (n.*432G>C) c.*359G>C (n.*359G>C) | dbSNP gnomAD v4 |
| X | g.154029935C>T | CA1138553539 | MECP2 | c.*432G>A (n.*432G>A) c.*359G>A (n.*359G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029935_154029936del | CA2695098769 | MECP2 | c.*431_*432del (n.*431_*432del) c.*358_*359del (n.*358_*359del) | gnomAD v4 |
| X | g.154029936T>C | CA2695098770 | MECP2 | c.*431A>G (n.*431A>G) c.*358A>G (n.*358A>G) | gnomAD v4 |
| X | g.154029936T>G | CA2695098771 | MECP2 | c.*431A>C (n.*431A>C) c.*358A>C (n.*358A>C) | gnomAD v4 |
| X | g.154029937G>A | CA337261287 | MECP2 | c.*430C>T (n.*430C>T) c.*357C>T (n.*357C>T) | dbSNP |
| X | g.154029937G>C | CA2466569799 | MECP2 | c.*430C>G (n.*430C>G) c.*357C>G (n.*357C>G) | dbSNP |
| X | g.154029937G= | CA2466569798 | MECP2 | c.*430C= (n.*430C=) c.*357C= (n.*357C=) | |
| X | g.154029941dup | CA2695098772 | MECP2 | c.*430dup (n.*430dup) c.*357dup (n.*357dup) | gnomAD v4 |
| X | g.154029941del | CA2695098773 | MECP2 | c.*430del (n.*430del) c.*357del (n.*357del) | gnomAD v4 |
| X | g.154029939G>A | CA2516582552 | MECP2 | c.*428C>T (n.*428C>T) c.*355C>T (n.*355C>T) | |
| X | g.154029939G>C | CA2695098774 | MECP2 | c.*428C>G (n.*428C>G) c.*355C>G (n.*355C>G) | gnomAD v4 |
| X | g.154029939_154029940insTG | CA2695098776 | MECP2 | c.*428_*429insAC (n.*428_*429insAC) c.*355_*356insAC (n.*355_*356insAC) | gnomAD v4 |
| X | g.154029940_154029943del | CA2695098775 | MECP2 | c.*425_*428del (n.*425_*428del) c.*352_*355del (n.*352_*355del) | gnomAD v4 |
| X | g.154029940G>C | CA645169062 | MECP2 | c.*427C>G (n.*427C>G) c.*354C>G (n.*354C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029940G= | CA2466569800 | MECP2 | c.*427C= (n.*427C=) c.*354C= (n.*354C=) | |
| X | g.154029940G>T | CA1138553540 | MECP2 | c.*427C>A (n.*427C>A) c.*354C>A (n.*354C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029941G>A | CA2695098777 | MECP2 | c.*426C>T (n.*426C>T) c.*353C>T (n.*353C>T) | gnomAD v4 |
| X | g.154029941G>C | CA2695098779 | MECP2 | c.*426C>G (n.*426C>G) c.*353C>G (n.*353C>G) | gnomAD v4 |
| X | g.154029941G= | CA2466569801 | MECP2 | c.*426C= (n.*426C=) c.*353C= (n.*353C=) | |
| X | g.154029941G>T | CA337261288 | MECP2 | c.*426C>A (n.*426C>A) c.*353C>A (n.*353C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029942A>C | CA2695098781 | MECP2 | c.*425T>G (n.*425T>G) c.*352T>G (n.*352T>G) | gnomAD v4 |
| X | g.154029943G= | CA2466569802 | MECP2 | c.*424C= (n.*424C=) c.*351C= (n.*351C=) | |
| X | g.154029943G>T | CA337261290 | MECP2 | c.*424C>A (n.*424C>A) c.*351C>A (n.*351C>A) | dbSNP gnomAD v4 |
| X | g.154029944C= | CA2466569803 | MECP2 | c.*423G= (n.*423G=) c.*350G= (n.*350G=) | |
| X | g.154029944C>G | CA2695098786 | MECP2 | c.*423G>C (n.*423G>C) c.*350G>C (n.*350G>C) | gnomAD v4 |
| X | g.154029944C>T | CA873291225 | MECP2 | c.*423G>A (n.*423G>A) c.*350G>A (n.*350G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029945T>A | CA2695098788 | MECP2 | c.*422A>T (n.*422A>T) c.*349A>T (n.*349A>T) | gnomAD v4 |
| X | g.154029946G>A | CA2466569805 | MECP2 | c.*421C>T (n.*421C>T) c.*348C>T (n.*348C>T) | dbSNP gnomAD v4 |
| X | g.154029946G= | CA2466569804 | MECP2 | c.*421C= (n.*421C=) c.*348C= (n.*348C=) | |
| X | g.154029947T>C | CA873291228 | MECP2 | c.*420A>G (n.*420A>G) c.*347A>G (n.*347A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029947T= | CA2466569806 | MECP2 | c.*420A= (n.*420A=) c.*347A= (n.*347A=) | |
| X | g.154029947_154029948insCTCTT | CA2695098789 | MECP2 | c.*420_*421insAGAGA (n.*420_*421insAGAGA) c.*347_*348insAGAGA (n.*347_*348insAGAGA) | gnomAD v4 |
| X | g.154029948A>C | CA2695098792 | MECP2 | c.*419T>G (n.*419T>G) c.*346T>G (n.*346T>G) | gnomAD v4 |
| X | g.154029948A>G | CA2695098793 | MECP2 | c.*419T>C (n.*419T>C) c.*346T>C (n.*346T>C) | gnomAD v4 |
| X | g.154029948_154029953del | CA2695098791 | MECP2 | c.*414_*419del (n.*414_*419del) c.*341_*346del (n.*341_*346del) | gnomAD v4 |
| X | g.154029949G>C | CA2695098796 | MECP2 | c.*418C>G (n.*418C>G) c.*345C>G (n.*345C>G) | gnomAD v4 |
| X | g.154029949G>T | CA2695098798 | MECP2 | c.*418C>A (n.*418C>A) c.*345C>A (n.*345C>A) | gnomAD v4 |
| X | g.154029949_154029950insC | CA2695098799 | MECP2 | c.*417_*418insG (n.*417_*418insG) c.*344_*345insG (n.*344_*345insG) | gnomAD v4 |
| X | g.154029950A>G | CA2695098800 | MECP2 | c.*417T>C (n.*417T>C) c.*344T>C (n.*344T>C) | gnomAD v4 |
| X | g.154029951C= | CA2466569807 | MECP2 | c.*416G= (n.*416G=) c.*343G= (n.*343G=) | |
| X | g.154029951C>G | CA873291230 | MECP2 | c.*416G>C (n.*416G>C) c.*343G>C (n.*343G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029951C>T | CA337261291 | MECP2 | c.*416G>A (n.*416G>A) c.*343G>A (n.*343G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029951_154029952delinsCG | CA2466569808 | MECP2 | c.*415_*416delinsCG (n.*415_*416delinsCG) c.*342_*343delinsCG (n.*342_*343delinsCG) | |
| X | g.154029952G>A | CA645169063 | MECP2 | c.*415C>T (n.*415C>T) c.*342C>T (n.*342C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029952G= | CA2466569810 | MECP2 | c.*415C= (n.*415C=) c.*342C= (n.*342C=) | |
| X | g.154029952G>T | CA2695098806 | MECP2 | c.*415C>A (n.*415C>A) c.*342C>A (n.*342C>A) | gnomAD v4 |
| X | g.154029955del | CA2466569809 | MECP2 | c.*415del (n.*415del) c.*342del (n.*342del) | dbSNP |
| X | g.154029953G>C | CA337261299 | MECP2 | c.*414C>G (n.*414C>G) c.*341C>G (n.*341C>G) | dbSNP |
| X | g.154029953G= | CA2466569811 | MECP2 | c.*414C= (n.*414C=) c.*341C= (n.*341C=) | |
| X | g.154029954G>A | CA873291234 | MECP2 | c.*413C>T (n.*413C>T) c.*340C>T (n.*340C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029954G= | CA2466569812 | MECP2 | c.*413C= (n.*413C=) c.*340C= (n.*340C=) | |
| X | g.154029954G>T | CA2695098808 | MECP2 | c.*413C>A (n.*413C>A) c.*340C>A (n.*340C>A) | gnomAD v4 |
| X | g.154029955G>A | CA873291235 | MECP2 | c.*412C>T (n.*412C>T) c.*339C>T (n.*339C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029955G= | CA2466569813 | MECP2 | c.*412C= (n.*412C=) c.*339C= (n.*339C=) | |
| X | g.154029955G>T | CA2695098810 | MECP2 | c.*412C>A (n.*412C>A) c.*339C>A (n.*339C>A) | gnomAD v4 |
| X | g.154029956C>A | CA2695098812 | MECP2 | c.*411G>T (n.*411G>T) c.*338G>T (n.*338G>T) | gnomAD v4 |
| X | g.154029956C= | CA2466569814 | MECP2 | c.*411G= (n.*411G=) c.*338G= (n.*338G=) | |
| X | g.154029956C>G | CA2695098813 | MECP2 | c.*411G>C (n.*411G>C) c.*338G>C (n.*338G>C) | gnomAD v4 |
| X | g.154029956C>T | CA873291236 | MECP2 | c.*411G>A (n.*411G>A) c.*338G>A (n.*338G>A) | dbSNP gnomAD v4 |
| X | g.154029957A= | CA2466569816 | MECP2 | c.*410T= (n.*410T=) c.*337T= (n.*337T=) | |
| X | g.154029957A>C | CA2695098817 | MECP2 | c.*410T>G (n.*410T>G) c.*337T>G (n.*337T>G) | gnomAD v4 |
| X | g.154029957A>G | CA873291237 | MECP2 | c.*410T>C (n.*410T>C) c.*337T>C (n.*337T>C) | dbSNP |
| X | g.154029957_154029958delinsAC | CA2466569815 | MECP2 | c.*409_*410delinsGT (n.*409_*410delinsGT) c.*336_*337delinsGT (n.*336_*337delinsGT) | |
| X | g.154029957_154029958insT | CA2695098820 | MECP2 | c.*409_*410insA (n.*409_*410insA) c.*336_*337insA (n.*336_*337insA) | gnomAD v4 |
| X | g.154029958del | CA873291238 | MECP2 | c.*409del (n.*409del) c.*336del (n.*336del) | dbSNP |
| X | g.154029958C= | CA2466569817 | MECP2 | c.*409G= (n.*409G=) c.*336G= (n.*336G=) | |
| X | g.154029958C>G | CA873291239 | MECP2 | c.*409G>C (n.*409G>C) c.*336G>C (n.*336G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029959T>C | CA873291240 | MECP2 | c.*408A>G (n.*408A>G) c.*335A>G (n.*335A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029959T= | CA2466569818 | MECP2 | c.*408A= (n.*408A=) c.*335A= (n.*335A=) | |
| X | g.154029960G>T | CA2695098825 | MECP2 | c.*407C>A (n.*407C>A) c.*334C>A (n.*334C>A) | gnomAD v4 |
| X | g.154029961A= | CA2466569819 | MECP2 | c.*406T= (n.*406T=) c.*333T= (n.*333T=) | |
| X | g.154029961A>C | CA1138553541 | MECP2 | c.*406T>G (n.*406T>G) c.*333T>G (n.*333T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029961A>G | CA873291241 | MECP2 | c.*406T>C (n.*406T>C) c.*333T>C (n.*333T>C) | dbSNP gnomAD v4 |
| X | g.154029961_154029962insCGC | CA2695098830 | MECP2 | c.*405_*406insGCG (n.*405_*406insGCG) c.*332_*333insGCG (n.*332_*333insGCG) | gnomAD v4 |
| X | g.154029962T>C | CA2695098829 | MECP2 | c.*405A>G (n.*405A>G) c.*332A>G (n.*332A>G) | gnomAD v4 |
| X | g.154029964G>A | CA2695098832 | MECP2 | c.*403C>T (n.*403C>T) c.*330C>T (n.*330C>T) | gnomAD v4 |
| X | g.154029964G>T | CA2695098833 | MECP2 | c.*403C>A (n.*403C>A) c.*330C>A (n.*330C>A) | gnomAD v4 |
| X | g.154029964_154029966del | CA2695098831 | MECP2 | c.*401_*403del (n.*401_*403del) c.*328_*330del (n.*328_*330del) | gnomAD v4 |
| X | g.154029965C>A | CA645169064 | MECP2 | c.*402G>T (n.*402G>T) c.*329G>T (n.*329G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029965C= | CA2466569820 | MECP2 | c.*402G= (n.*402G=) c.*329G= (n.*329G=) | |
| X | g.154029965C>T | CA337261308 | MECP2 | c.*402G>A (n.*402G>A) c.*329G>A (n.*329G>A) | dbSNP gnomAD v4 |
| X | g.154029966A>C | CA2695098837 | MECP2 | c.*401T>G (n.*401T>G) c.*328T>G (n.*328T>G) | gnomAD v4 |
| X | g.154029966A>G | CA2695098839 | MECP2 | c.*401T>C (n.*401T>C) c.*328T>C (n.*328T>C) | gnomAD v4 |
| X | g.154029967C>A | CA2695098841 | MECP2 | c.*400G>T (n.*400G>T) c.*327G>T (n.*327G>T) | gnomAD v4 |
| X | g.154029967C= | CA2466569821 | MECP2 | c.*400G= (n.*400G=) c.*327G= (n.*327G=) | |
| X | g.154029967C>G | CA2695098842 | MECP2 | c.*400G>C (n.*400G>C) c.*327G>C (n.*327G>C) | gnomAD v4 |
| X | g.154029967C>T | CA645169065 | MECP2 | c.*400G>A (n.*400G>A) c.*327G>A (n.*327G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029968C= | CA2466569822 | MECP2 | c.*399G= (n.*399G=) c.*326G= (n.*326G=) | |
| X | g.154029968C>G | CA2466569823 | MECP2 | c.*399G>C (n.*399G>C) c.*326G>C (n.*326G>C) | dbSNP |
| X | g.154029968C>T | CA337261326 | MECP2 | c.*399G>A (n.*399G>A) c.*326G>A (n.*326G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029969G>A | CA645169066 | MECP2 | c.*398C>T (n.*398C>T) c.*325C>T (n.*325C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.154029969G>C | CA2466569825 | MECP2 | c.*398C>G (n.*398C>G) c.*325C>G (n.*325C>G) | dbSNP gnomAD v4 |
| X | g.154029969G= | CA2466569824 | MECP2 | c.*398C= (n.*398C=) c.*325C= (n.*325C=) | |
| X | g.154029969G>T | CA2695098849 | MECP2 | c.*398C>A (n.*398C>A) c.*325C>A (n.*325C>A) | gnomAD v4 |
| X | g.154029970A= | CA2466569826 | MECP2 | c.*397T= (n.*397T=) c.*324T= (n.*324T=) | |
| X | g.154029970A>G | CA873291251 | MECP2 | c.*397T>C (n.*397T>C) c.*324T>C (n.*324T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029973del | CA2552970430 | MECP2 | c.*397del (n.*397del) c.*324del (n.*324del) | gnomAD v4 |
| X | g.154029971_154029973del | CA2695098852 | MECP2 | c.*395_*397del (n.*395_*397del) c.*322_*324del (n.*322_*324del) | gnomAD v4 |
| X | g.154029971A= | CA2466569827 | MECP2 | c.*396T= (n.*396T=) c.*323T= (n.*323T=) | |
| X | g.154029971A>C | CA2695098854 | MECP2 | c.*396T>G (n.*396T>G) c.*323T>G (n.*323T>G) | gnomAD v4 |
| X | g.154029971A>G | CA1138553543 | MECP2 | c.*396T>C (n.*396T>C) c.*323T>C (n.*323T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029974C= | CA2466569828 | MECP2 | c.*393G= (n.*393G=) c.*320G= (n.*320G=) | |
| X | g.154029974C>T | CA170128 | MECP2 | c.*393G>A (n.*393G>A) c.*320G>A (n.*320G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029975G>A | CA337261337 | MECP2 | c.*392C>T (n.*392C>T) c.*319C>T (n.*319C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029975G>C | CA1138553545 | MECP2 | c.*392C>G (n.*392C>G) c.*319C>G (n.*319C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029975G= | CA2466569829 | MECP2 | c.*392C= (n.*392C=) c.*319C= (n.*319C=) | |
| X | g.154029976G>T | CA2824281023 | MECP2 | c.*391C>A (n.*391C>A) c.*318C>A (n.*318C>A) | |
| X | g.154029977G>T | CA2695098855 | MECP2 | c.*390C>A (n.*390C>A) c.*317C>A (n.*317C>A) | gnomAD v4 |
| X | g.154029978A>C | CA2695098856 | MECP2 | c.*389T>G (n.*389T>G) c.*316T>G (n.*316T>G) | gnomAD v4 |
| X | g.154029980T>C | CA2695098857 | MECP2 | c.*387A>G (n.*387A>G) c.*314A>G (n.*314A>G) | gnomAD v4 |
| X | g.154029980T>G | CA1138553547 | MECP2 | c.*387A>C (n.*387A>C) c.*314A>C (n.*314A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029980T= | CA2466569830 | MECP2 | c.*387A= (n.*387A=) c.*314A= (n.*314A=) | |
| X | g.154029981G>A | CA2466569832 | MECP2 | c.*386C>T (n.*386C>T) c.*313C>T (n.*313C>T) | dbSNP |
| X | g.154029981G= | CA2466569831 | MECP2 | c.*386C= (n.*386C=) c.*313C= (n.*313C=) | |
| X | g.154029982T>C | CA2695098859 | MECP2 | c.*385A>G (n.*385A>G) c.*312A>G (n.*312A>G) | gnomAD v4 |
| X | g.154029982T>G | CA2695098860 | MECP2 | c.*385A>C (n.*385A>C) c.*312A>C (n.*312A>C) | gnomAD v4 |
| X | g.154029983C>A | CA2466569834 | MECP2 | c.*384G>T (n.*384G>T) c.*311G>T (n.*311G>T) | dbSNP |
| X | g.154029983C= | CA2466569833 | MECP2 | c.*384G= (n.*384G=) c.*311G= (n.*311G=) | |
| X | g.154029983C>G | CA2695098861 | MECP2 | c.*384G>C (n.*384G>C) c.*311G>C (n.*311G>C) | gnomAD v4 |
| X | g.154029983C>T | CA873291260 | MECP2 | c.*384G>A (n.*384G>A) c.*311G>A (n.*311G>A) | dbSNP |
| X | g.154029984C= | CA2466569835 | MECP2 | c.*383G= (n.*383G=) c.*310G= (n.*310G=) | |
| X | g.154029984C>G | CA2466569836 | MECP2 | c.*383G>C (n.*383G>C) c.*310G>C (n.*310G>C) | dbSNP gnomAD v4 |
| X | g.154029984C>T | CA645169067 | MECP2 | c.*383G>A (n.*383G>A) c.*310G>A (n.*310G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029985T>C | CA2695098866 | MECP2 | c.*382A>G (n.*382A>G) c.*309A>G (n.*309A>G) | dbSNP gnomAD v4 |
| X | g.154029985dup | CA2695098865 | MECP2 | c.*382dup (n.*382dup) c.*309dup (n.*309dup) | gnomAD v4 |
| X | g.154029986C>A | CA2695098868 | MECP2 | c.*381G>T (n.*381G>T) c.*308G>T (n.*308G>T) | gnomAD v4 |
| X | g.154029986C= | CA2466569837 | MECP2 | c.*381G= (n.*381G=) c.*308G= (n.*308G=) | |
| X | g.154029986C>G | CA873291263 | MECP2 | c.*381G>C (n.*381G>C) c.*308G>C (n.*308G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029986C>T | CA2695098871 | MECP2 | c.*381G>A (n.*381G>A) c.*308G>A (n.*308G>A) | gnomAD v4 |
| X | g.154029987T>C | CA2695098872 | MECP2 | c.*380A>G (n.*380A>G) c.*307A>G (n.*307A>G) | gnomAD v4 |
| X | g.154029988C>A | CA645169068 | MECP2 | c.*379G>T (n.*379G>T) c.*306G>T (n.*306G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029988C= | CA2466569838 | MECP2 | c.*379G= (n.*379G=) c.*306G= (n.*306G=) | |
| X | g.154029988C>G | CA873291265 | MECP2 | c.*379G>C (n.*379G>C) c.*306G>C (n.*306G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029988C>T | CA873291266 | MECP2 | c.*379G>A (n.*379G>A) c.*306G>A (n.*306G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029989A= | CA2466569839 | MECP2 | c.*378T= (n.*378T=) c.*305T= (n.*305T=) | |
| X | g.154029989A>C | CA873291269 | MECP2 | c.*378T>G (n.*378T>G) c.*305T>G (n.*305T>G) | dbSNP |
| X | g.154029990A= | CA2466569840 | MECP2 | c.*377T= (n.*377T=) c.*304T= (n.*304T=) | |
| X | g.154029990A>G | CA337261364 | MECP2 | c.*377T>C (n.*377T>C) c.*304T>C (n.*304T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029990A>T | CA2695098880 | MECP2 | c.*377T>A (n.*377T>A) c.*304T>A (n.*304T>A) | gnomAD v4 |
| X | g.154029991C>A | CA2695098881 | MECP2 | c.*376G>T (n.*376G>T) c.*303G>T (n.*303G>T) | gnomAD v4 |
| X | g.154029991C= | CA2466569841 | MECP2 | c.*376G= (n.*376G=) c.*303G= (n.*303G=) | |
| X | g.154029991C>G | CA337261373 | MECP2 | c.*376G>C (n.*376G>C) c.*303G>C (n.*303G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029992T>C | CA2695098882 | MECP2 | c.*375A>G (n.*375A>G) c.*302A>G (n.*302A>G) | gnomAD v4 |
| X | g.154029992_154030000delinsTGCTCTGTC | CA2466569842 | MECP2 | c.*367_*375delinsGACAGAGCA (n.*367_*375delinsGACAGAGCA) c.*294_*302delinsGACAGAGCA (n.*294_*302delinsGACAGAGCA) | |
| X | g.154029993G>A | CA2695098886 | MECP2 | c.*374C>T (n.*374C>T) c.*301C>T (n.*301C>T) | gnomAD v4 |
| X | g.154029993G>C | CA2695098884 | MECP2 | c.*374C>G (n.*374C>G) c.*301C>G (n.*301C>G) | gnomAD v4 |
| X | g.154029993G= | CA2466569843 | MECP2 | c.*374C= (n.*374C=) c.*301C= (n.*301C=) | |
| X | g.154029993G>T | CA873291272 | MECP2 | c.*374C>A (n.*374C>A) c.*301C>A (n.*301C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030001_154030008del | CA2466569844 | MECP2 | c.*367_*374del (n.*367_*374del) c.*294_*301del (n.*294_*301del) | dbSNP gnomAD v4 |
| X | g.154029994C>A | CA2695098888 | MECP2 | c.*373G>T (n.*373G>T) c.*300G>T (n.*300G>T) | gnomAD v4 |
| X | g.154029994C= | CA2466569845 | MECP2 | c.*373G= (n.*373G=) c.*300G= (n.*300G=) | |
| X | g.154029994C>T | CA337261390 | MECP2 | c.*373G>A (n.*373G>A) c.*300G>A (n.*300G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029995T>C | CA2466569847 | MECP2 | c.*372A>G (n.*372A>G) c.*299A>G (n.*299A>G) | dbSNP gnomAD v4 |
| X | g.154029995T= | CA2466569846 | MECP2 | c.*372A= (n.*372A=) c.*299A= (n.*299A=) | |
| X | g.154029996C= | CA2466569848 | MECP2 | c.*371G= (n.*371G=) c.*298G= (n.*298G=) | |
| X | g.154029996C>G | CA170126 | MECP2 | c.*371G>C (n.*371G>C) c.*298G>C (n.*298G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029996C>T | CA2695098891 | MECP2 | c.*371G>A (n.*371G>A) c.*298G>A (n.*298G>A) | gnomAD v4 |
| X | g.154029998G>A | CA2695098892 | MECP2 | c.*369C>T (n.*369C>T) c.*296C>T (n.*296C>T) | gnomAD v4 |
| X | g.154030000C= | CA2466569849 | MECP2 | c.*367G= (n.*367G=) c.*294G= (n.*294G=) | |
| X | g.154030000C>T | CA337261411 | MECP2 | c.*367G>A (n.*367G>A) c.*294G>A (n.*294G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030001G>A | CA337261413 | MECP2 | c.*366C>T (n.*366C>T) c.*293C>T (n.*293C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030001G>C | CA873291281 | MECP2 | c.*366C>G (n.*366C>G) c.*293C>G (n.*293C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030001G= | CA2466569852 | MECP2 | c.*366C= (n.*366C=) c.*293C= (n.*293C=) | |
| X | g.154030001_154030003delinsGCT | CA2466569851 | MECP2 | c.*364_*366delinsAGC (n.*364_*366delinsAGC) c.*291_*293delinsAGC (n.*291_*293delinsAGC) | |
| X | g.154030001_154030007delinsGCTCTGT | CA2466569850 | MECP2 | c.*360_*366delinsACAGAGC (n.*360_*366delinsACAGAGC) c.*287_*293delinsACAGAGC (n.*287_*293delinsACAGAGC) | |
| X | g.154030002C>G | CA2695098896 | MECP2 | c.*365G>C (n.*365G>C) c.*292G>C (n.*292G>C) | gnomAD v4 |
| X | g.154030004_154030005del | CA645169070 | MECP2 | c.*364_*365del (n.*364_*365del) c.*291_*292del (n.*291_*292del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030006_154030011del | CA645169069 | MECP2 | c.*360_*365del (n.*360_*365del) c.*287_*292del (n.*287_*292del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030003T>C | CA2695098898 | MECP2 | c.*364A>G (n.*364A>G) c.*291A>G (n.*291A>G) | gnomAD v4 |
| X | g.154030003T>G | CA2695098899 | MECP2 | c.*364A>C (n.*364A>C) c.*291A>C (n.*291A>C) | gnomAD v4 |
| X | g.154030004C>A | CA2695098902 | MECP2 | c.*363G>T (n.*363G>T) c.*290G>T (n.*290G>T) | gnomAD v4 |
| X | g.154030004C= | CA2466569853 | MECP2 | c.*363G= (n.*363G=) c.*290G= (n.*290G=) | |
| X | g.154030004C>G | CA170122 | MECP2 | c.*363G>C (n.*363G>C) c.*290G>C (n.*290G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030004C>T | CA658619943 | MECP2 | c.*363G>A (n.*363G>A) c.*290G>A (n.*290G>A) | COSMIC |
| X | g.154030006G>A | CA2466569855 | MECP2 | c.*361C>T (n.*361C>T) c.*288C>T (n.*288C>T) | dbSNP |
| X | g.154030006G= | CA2466569854 | MECP2 | c.*361C= (n.*361C=) c.*288C= (n.*288C=) | |
| X | g.154030006G>T | CA658619945 | MECP2 | c.*361C>A (n.*361C>A) c.*288C>A (n.*288C>A) | gnomAD v4 COSMIC |
| X | g.154030007T>G | CA2695098910 | MECP2 | c.*360A>C (n.*360A>C) c.*287A>C (n.*287A>C) | gnomAD v4 |
| X | g.154030008C= | CA2466569856 | MECP2 | c.*359G= (n.*359G=) c.*286G= (n.*286G=) | |
| X | g.154030008C>G | CA170121 | MECP2 | c.*359G>C (n.*359G>C) c.*286G>C (n.*286G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030008C>T | CA2466569857 | MECP2 | c.*359G>A (n.*359G>A) c.*286G>A (n.*286G>A) | dbSNP |
| X | g.154030009T>C | CA2695098917 | MECP2 | c.*358A>G (n.*358A>G) c.*285A>G (n.*285A>G) | gnomAD v4 |
| X | g.154030010C= | CA2466569858 | MECP2 | c.*357G= (n.*357G=) c.*284G= (n.*284G=) | |
| X | g.154030010C>G | CA873291292 | MECP2 | c.*357G>C (n.*357G>C) c.*284G>C (n.*284G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030010C>T | CA873291293 | MECP2 | c.*357G>A (n.*357G>A) c.*284G>A (n.*284G>A) | dbSNP gnomAD v4 |
| X | g.154030011T= | CA2466569859 | MECP2 | c.*356A= (n.*356A=) c.*283A= (n.*283A=) | |
| X | g.154030012A>C | CA2695098926 | MECP2 | c.*355T>G (n.*355T>G) c.*282T>G (n.*282T>G) | gnomAD v4 |
| X | g.154030012A>G | CA2695098928 | MECP2 | c.*355T>C (n.*355T>C) c.*282T>C (n.*282T>C) | gnomAD v4 |
| X | g.154030013_154030016dup | CA645169071 | MECP2 | c.*352_*355dup (n.*352_*355dup) c.*279_*282dup (n.*279_*282dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030013A>G | CA2695098929 | MECP2 | c.*354T>C (n.*354T>C) c.*281T>C (n.*281T>C) | gnomAD v4 |
| X | g.154030014C>A | CA2695098931 | MECP2 | c.*353G>T (n.*353G>T) c.*280G>T (n.*280G>T) | gnomAD v4 |
| X | g.154030014C= | CA2466569860 | MECP2 | c.*353G= (n.*353G=) c.*280G= (n.*280G=) | |
| X | g.154030014C>G | CA873291295 | MECP2 | c.*353G>C (n.*353G>C) c.*280G>C (n.*280G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030014C>T | CA337261440 | MECP2 | c.*353G>A (n.*353G>A) c.*280G>A (n.*280G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030015G>A | CA337261441 | MECP2 | c.*352C>T (n.*352C>T) c.*279C>T (n.*279C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154030015G>C | CA2739108560 | MECP2 | c.*352C>G (n.*352C>G) c.*279C>G (n.*279C>G) | dbSNP |
| X | g.154030015G= | CA2466569861 | MECP2 | c.*352C= (n.*352C=) c.*279C= (n.*279C=) | |
| X | g.154030015G>T | CA2695098932 | MECP2 | c.*352C>A (n.*352C>A) c.*279C>A (n.*279C>A) | gnomAD v4 |
| X | g.154030016A= | CA2466569862 | MECP2 | c.*351T= (n.*351T=) c.*278T= (n.*278T=) | |
| X | g.154030016A>G | CA2466569863 | MECP2 | c.*351T>C (n.*351T>C) c.*278T>C (n.*278T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030017C= | CA2466569864 | MECP2 | c.*350G= (n.*350G=) c.*277G= (n.*277G=) | |
| X | g.154030017C>G | CA873291297 | MECP2 | c.*350G>C (n.*350G>C) c.*277G>C (n.*277G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030017C>T | CA337261442 | MECP2 | c.*350G>A (n.*350G>A) c.*277G>A (n.*277G>A) | dbSNP gnomAD v4 |
| X | g.154030018C>A | CA2466569866 | MECP2 | c.*349G>T (n.*349G>T) c.*276G>T (n.*276G>T) | dbSNP |
| X | g.154030018C= | CA2466569865 | MECP2 | c.*349G= (n.*349G=) c.*276G= (n.*276G=) | |
| X | g.154030018C>G | CA337261443 | MECP2 | c.*349G>C (n.*349G>C) c.*276G>C (n.*276G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154030018C>T | CA1138553564 | MECP2 | c.*349G>A (n.*349G>A) c.*276G>A (n.*276G>A) | gnomAD v3 gnomAD v4 |
| X | g.154030020C>A | CA873291300 | MECP2 | c.*347G>T (n.*347G>T) c.*274G>T (n.*274G>T) | dbSNP gnomAD v4 |
| X | g.154030020C= | CA2466569867 | MECP2 | c.*347G= (n.*347G=) c.*274G= (n.*274G=) | |
| X | g.154030020C>G | CA337261445 | MECP2 | c.*347G>C (n.*347G>C) c.*274G>C (n.*274G>C) | dbSNP gnomAD v4 |
| X | g.154030021A>G | CA2824281044 | MECP2 | c.*346T>C (n.*346T>C) c.*273T>C (n.*273T>C) | |
| X | g.154030022T>G | CA2695098950 | MECP2 | c.*345A>C (n.*345A>C) c.*272A>C (n.*272A>C) | gnomAD v4 |
| X | g.154030023G>A | CA337261446 | MECP2 | c.*344C>T (n.*344C>T) c.*271C>T (n.*271C>T) | dbSNP |
| X | g.154030023G>C | CA2466569869 | MECP2 | c.*344C>G (n.*344C>G) c.*271C>G (n.*271C>G) | dbSNP gnomAD v4 |
| X | g.154030023G= | CA2466569868 | MECP2 | c.*344C= (n.*344C=) c.*271C= (n.*271C=) | |
| X | g.154030023G>T | CA2537716190 | MECP2 | c.*344C>A (n.*344C>A) c.*271C>A (n.*271C>A) | |
| X | g.154030027del | CA2695098951 | MECP2 | c.*344del (n.*344del) c.*271del (n.*271del) | gnomAD v4 |
| X | g.154030024G>A | CA873291303 | MECP2 | c.*343C>T (n.*343C>T) c.*270C>T (n.*270C>T) | dbSNP gnomAD v4 |
| X | g.154030024G>C | CA2466569871 | MECP2 | c.*343C>G (n.*343C>G) c.*270C>G (n.*270C>G) | dbSNP gnomAD v4 |
| X | g.154030024G= | CA2466569870 | MECP2 | c.*343C= (n.*343C=) c.*270C= (n.*270C=) | |
| X | g.154030024G>T | CA2466569872 | MECP2 | c.*343C>A (n.*343C>A) c.*270C>A (n.*270C>A) | dbSNP gnomAD v4 |