Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154026923_154030670delCA16616626MECP2c.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
Xg.154027844_154030751delCA274554MECP2c.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
Xg.154028067_154030775delCA915952014MECP2c.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
Xg.154029065_154030675delinsCGGGACA2580101831MECP2c.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
Xg.154029424_154030672delCA274568MECP2c.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
Xg.154029486_154030374delinsCTCCAACGGGTGGCGCTAGAGGCCATGGAGGCAGTAGGACAAGGTGCAGGCAGGCTGGCCTGGGGTCAGGCCGGGCAGAGCACAGCGGGGTGAGAGGGATTCCA2697544636MECP2c.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
Xg.154029504_154030589delCA916084014MECP2c.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
Xg.154029791_154030631delCA2697544637MECP2c.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
Xg.154029798_154030699delinsAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTCA2466569675MECP2c.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=])
Xg.154029799_154030699delinsCCACGGCA274564MECP2c.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
Xg.154029810_154030728delCA2739273827MECP2c.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
Xg.154029914_154030682delinsGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCCA2466569776MECP2c.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=])
Xg.154029920_154030687delCA274838MECP2c.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
Xg.154030105_154030670delinsGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCCA2466569917MECP2c.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=])
Xg.154030108_154030672delCA891862973MECP2c.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
Xg.154030241_154031021delinsAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCA2466570003MECP2c.807_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.[c.807_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT;Gly269=])
c.843_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.[c.843_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT;Gly281=])
c.807_*53delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT
c.*179_*959delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.*179_*959delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT)
c.528_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.[c.528_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT;Gly176=])
c.138_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT (n.[c.138_*126delinsCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTT;Gly46=])
Xg.154030242_154031021delCA235624MECP2c.807_*125del (n.[c.807_*125del;Arg270GlnfsTer2])
c.843_*125del (n.[c.843_*125del;Arg282GlnfsTer2])
c.807_*52del
c.*179_*958del (n.*179_*958del)
c.528_*125del (n.[c.528_*125del;Arg177GlnfsTer2])
c.138_*125del (n.[c.138_*125del;Arg47GlnfsTer2])
 ClinVar dbSNP
Xg.154030249_154030670delinsAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCCA2466570009MECP2c.1158_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.[c.1158_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT;Leu386=])
c.1194_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.[c.1194_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT;Leu398=])
c.1158_*45delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT
c.*530_*951delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.*530_*951delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT)
c.879_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.[c.879_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT;Leu293=])
c.489_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT (n.[c.489_*118delinsGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTT;Leu163=])
Xg.154030251_154030671delCA277188MECP2c.1158_*117del (n.[c.1158_*117del;Pro387PhefsTer?])
c.1194_*117del (n.[c.1194_*117del;Pro399PhefsTer?])
c.1158_*44del
c.*530_*950del (n.*530_*950del)
c.879_*117del (n.[c.879_*117del;Pro294PhefsTer?])
c.489_*117del (n.[c.489_*117del;Pro164PhefsTer?])
 ClinVar dbSNP
Xg.154030255_154037279delinsCACAAAGTGCA274580MECP2c.27-4722_*112delinsCACTTTGTG
c.63-4722_*112delinsCACTTTGTG
c.27-4722_*39delinsCACTTTGTG
c.27-4722_*945delinsCACTTTGTG
c.-253-4722_*112delinsCACTTTGTG
c.-254+2513_*112delinsCACTTTGTG
c.-535+2513_*112delinsCACTTTGTG
c.-534-4722_*112delinsCACTTTGTG
 ClinVar
Xg.154030293_154030599delCA2580101844MECP2c.1231_*76del (n.[c.1231_*76del;Val412AspfsTer?])
c.1267_*76del (n.[c.1267_*76del;Val424AspfsTer?])
c.1231_*3del
c.*603_*909del (n.*603_*909del)
c.952_*76del (n.[c.952_*76del;Val319AspfsTer?])
c.562_*76del (n.[c.562_*76del;Val189AspfsTer?])
 ClinVar
Xg.154030325_154031003delCA273849MECP2c.827_*44del (n.[c.827_*44del;Val276AlafsTer10])
c.863_*44del (n.[c.863_*44del;Val288AlafsTer10])
c.827_1501del
c.*199_*877del (n.*199_*877del)
c.548_*44del (n.[c.548_*44del;Val183AlafsTer10])
c.158_*44del (n.[c.158_*44del;Val53AlafsTer10])
Xg.154030327_154030665delinsTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGCA2466570049MECP2c.1163_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.[c.1163_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA;Pro388=])
c.1199_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.[c.1199_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA;Pro400=])
c.1163_1497delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA
c.*535_*873delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.*535_*873delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA)
c.884_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.[c.884_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA;Pro295=])
c.494_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA (n.[c.494_*40delinsCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATA;Pro165=])
Xg.154030328_154030665delCA274572MECP2c.1163_*39del (n.[c.1163_*39del;Pro388GlnfsTer20])
c.1199_*39del (n.[c.1199_*39del;Pro400GlnfsTer20])
c.1163_1496del
c.*535_*872del (n.*535_*872del)
c.884_*39del (n.[c.884_*39del;Pro295GlnfsTer20])
c.494_*39del (n.[c.494_*39del;Pro165GlnfsTer20])
 ClinVar dbSNP
Xg.154030337_154030380delinsGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCA2466570055MECP2c.1448_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1448_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Glu483=])
c.1484_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1484_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Glu495=])
c.1448_1487delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC
c.*820_*863delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.*820_*863delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC)
c.1169_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1169_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Glu390=])
c.779_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.779_*30delinsAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Glu260=])
Xg.154030337_154030676delinsGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTCA2466570058MECP2c.1152_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1152_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Pro384=])
c.1188_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1188_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Pro396=])
c.1152_1487delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC
c.*524_*863delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.*524_*863delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC)
c.873_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.873_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Pro291=])
c.483_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.483_*30delinsACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Pro161=])
Xg.154030337_154030787delinsGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCCA2466570057MECP2c.1041_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1041_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Lys347=])
c.1077_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.1077_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Lys359=])
c.1041_1487delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC
c.*413_*863delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.*413_*863delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC)
c.762_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.762_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Lys254=])
c.372_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC (n.[c.372_*30delinsGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACC;Lys124=])
Xg.154030338_154030380delCA232944MECP2c.1448_*29del (n.[c.1448_*29del;Glu483AlafsTer15])
c.1484_*29del (n.[c.1484_*29del;Glu495AlafsTer15])
c.1448_1486del
c.*820_*862del (n.*820_*862del)
c.1169_*29del (n.[c.1169_*29del;Glu390AlafsTer15])
c.779_*29del (n.[c.779_*29del;Glu260AlafsTer15])
 ClinVar dbSNP
Xg.154030339_154030677delCA274567MECP2c.1152_*29del (n.[c.1152_*29del;Pro385AsnfsTer17])
c.1188_*29del (n.[c.1188_*29del;Pro397AsnfsTer17])
c.1152_1486del
c.*524_*862del (n.*524_*862del)
c.873_*29del (n.[c.873_*29del;Pro292AsnfsTer17])
c.483_*29del (n.[c.483_*29del;Pro162AsnfsTer17])
 ClinVar dbSNP
Xg.154030338_154030787delCA235616MECP2c.1041_*29del (n.[c.1041_*29del;Lys347AsnfsTer18])
c.1077_*29del (n.[c.1077_*29del;Lys359AsnfsTer18])
c.1041_1486del
c.*413_*862del (n.*413_*862del)
c.762_*29del (n.[c.762_*29del;Lys254AsnfsTer18])
c.372_*29del (n.[c.372_*29del;Lys124AsnfsTer18])
 ClinVar dbSNP
Xg.154030342_154030378delinsGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCA2466570060MECP2c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.[c.1450_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC;Arg484=])
c.1486_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.[c.1486_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC;Arg496=])
c.1449+1_1482delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC
c.*822_*858delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.*822_*858delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC)
c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.[c.1171_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC;Arg391=])
c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC (n.[c.781_*25delinsAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGC;Arg261=])
Xg.154030345_154030380delCA658799885MECP2c.1450_*24del (n.[c.1450_*24del;Arg484GlnfsTer19])
c.1486_*24del (n.[c.1486_*24del;Arg496GlnfsTer19])
c.1449+1_1481del
c.*822_*857del (n.*822_*857del)
c.1171_*24del (n.[c.1171_*24del;Arg391GlnfsTer19])
c.781_*24del (n.[c.781_*24del;Arg261GlnfsTer19])
 ClinVar dbSNP
Xg.154030348C>ACA415162264MECP2c.*19G>T (n.*19G>T)
c.1476G>T (p.Leu492Phe)
c.*852G>T (n.*852G>T)
 dbSNP
Xg.154030348C=CA2466570063MECP2c.*19G= (n.*19G=)
c.1476G= (p.Leu492=)
c.*852G= (n.*852G=)
Xg.154030348C>GCA415162266MECP2c.*19G>C (n.*19G>C)
c.1476G>C (p.Leu492Phe)
c.*852G>C (n.*852G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030348C>TCA2695099512MECP2c.*19G>A (n.*19G>A)
c.1476G>A (p.Leu492=)
c.*852G>A (n.*852G>A)
 gnomAD v4
Xg.154030349A=CA2466570064MECP2c.*18T= (n.*18T=)
c.1475T= (p.Leu492=)
c.*851T= (n.*851T=)
Xg.154030349A>CCA415162270MECP2c.*18T>G (n.*18T>G)
c.1475T>G (p.Leu492Trp)
c.*851T>G (n.*851T>G)
 dbSNP
Xg.154030349A>GCA415162273MECP2c.*18T>C (n.*18T>C)
c.1475T>C (p.Leu492Ser)
c.*851T>C (n.*851T>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.154030349A>TCA415162286MECP2c.*18T>A (n.*18T>A)
c.1475T>A (p.Leu492Ter)
c.*851T>A (n.*851T>A)
Xg.154030350A>CCA415162297MECP2c.*17T>G (n.*17T>G)
c.1474T>G (p.Leu492Val)
c.*850T>G (n.*850T>G)
Xg.154030350A>GCA2695099516MECP2c.*17T>C (n.*17T>C)
c.1474T>C (p.Leu492=)
c.*850T>C (n.*850T>C)
 gnomAD v4
Xg.154030350A>TCA415162320MECP2c.*17T>A (n.*17T>A)
c.1474T>A (p.Leu492Met)
c.*850T>A (n.*850T>A)
Xg.154030351T>CCA16608785MECP2c.*16A>G (n.*16A>G)
c.1473A>G (p.Gly491=)
c.*849A>G (n.*849A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030351T=CA2466570065MECP2c.*16A= (n.*16A=)
c.1473A= (p.Gly491=)
c.*849A= (n.*849A=)
Xg.154030352C>ACA415162333MECP2c.*15G>T (n.*15G>T)
c.1472G>T (p.Gly491Val)
c.*848G>T (n.*848G>T)
Xg.154030352C=CA2466570066MECP2c.*15G= (n.*15G=)
c.1472G= (p.Gly491=)
c.*848G= (n.*848G=)
Xg.154030352C>GCA415162339MECP2c.*15G>C (n.*15G>C)
c.1472G>C (p.Gly491Ala)
c.*848G>C (n.*848G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.154030352C>TCA415162354MECP2c.*15G>A (n.*15G>A)
c.1472G>A (p.Gly491Glu)
c.*848G>A (n.*848G>A)
 gnomAD v4
Xg.154030353C>ACA415162374MECP2c.*14G>T (n.*14G>T)
c.1471G>T (p.Gly491Ter)
c.*847G>T (n.*847G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154030353C=CA2466570068MECP2c.*14G= (n.*14G=)
c.1471G= (p.Gly491=)
c.*847G= (n.*847G=)
Xg.154030353C>GCA415162376MECP2c.*14G>C (n.*14G>C)
c.1471G>C (p.Gly491Arg)
c.*847G>C (n.*847G>C)
Xg.154030353C>TCA222800MECP2c.*14G>A (n.*14G>A)
c.1471G>A (p.Gly491Arg)
c.*847G>A (n.*847G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.154030353_154030731delinsCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTCA2466570067MECP2c.1097_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.[c.1097_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG;His366=])
c.1133_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.[c.1133_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG;His378=])
c.1097_1471delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG
c.*469_*847delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.*469_*847delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG)
c.818_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.[c.818_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG;His273=])
c.428_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG (n.[c.428_*14delinsACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCG;His143=])
Xg.154030354G>ACA10558419MECP2c.*13C>T (n.*13C>T)
c.1470C>T (p.Ser490=)
c.*846C>T (n.*846C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030354G>CCA415162389MECP2c.*13C>G (n.*13C>G)
c.1470C>G (p.Ser490Arg)
c.*846C>G (n.*846C>G)
 gnomAD v4
Xg.154030354G=CA2466570070MECP2c.*13C= (n.*13C=)
c.1470C= (p.Ser490=)
c.*846C= (n.*846C=)
Xg.154030354G>TCA415162391MECP2c.*13C>A (n.*13C>A)
c.1470C>A (p.Ser490Arg)
c.*846C>A (n.*846C>A)
Xg.154030354_154030374delinsGCTCCGTGTAAAGTCAGCTAACA2466570071MECP2c.1454_*13delinsTTAGCTGACTTTACACGGAGC (n.[c.1454_*13delinsTTAGCTGACTTTACACGGAGC;Val485=])
c.1490_*13delinsTTAGCTGACTTTACACGGAGC (n.[c.1490_*13delinsTTAGCTGACTTTACACGGAGC;Val497=])
c.1450_1470delinsTTAGCTGACTTTACACGGAGC (p.Leu484=)
c.*826_*846delinsTTAGCTGACTTTACACGGAGC (n.*826_*846delinsTTAGCTGACTTTACACGGAGC)
c.1175_*13delinsTTAGCTGACTTTACACGGAGC (n.[c.1175_*13delinsTTAGCTGACTTTACACGGAGC;Val392=])
c.785_*13delinsTTAGCTGACTTTACACGGAGC (n.[c.785_*13delinsTTAGCTGACTTTACACGGAGC;Val262=])
Xg.154030354_154030378delinsGCTCCGTGTAAAGTCAGCTAACTCTCA2466570069MECP2c.1450_*13delinsAGAGTTAGCTGACTTTACACGGAGC (n.[c.1450_*13delinsAGAGTTAGCTGACTTTACACGGAGC;Arg484=])
c.1486_*13delinsAGAGTTAGCTGACTTTACACGGAGC (n.[c.1486_*13delinsAGAGTTAGCTGACTTTACACGGAGC;Arg496=])
c.1449+1_1470delinsAGAGTTAGCTGACTTTACACGGAGC
c.*822_*846delinsAGAGTTAGCTGACTTTACACGGAGC (n.*822_*846delinsAGAGTTAGCTGACTTTACACGGAGC)
c.1171_*13delinsAGAGTTAGCTGACTTTACACGGAGC (n.[c.1171_*13delinsAGAGTTAGCTGACTTTACACGGAGC;Arg391=])
c.781_*13delinsAGAGTTAGCTGACTTTACACGGAGC (n.[c.781_*13delinsAGAGTTAGCTGACTTTACACGGAGC;Arg261=])
Xg.154030359_154030736delCA274556MECP2c.1097_*13del (n.[c.1097_*13del;His366ArgfsTer23])
c.1133_*13del (n.[c.1133_*13del;His378ArgfsTer23])
c.1097_1470del
c.*469_*846del (n.*469_*846del)
c.818_*13del (n.[c.818_*13del;His273ArgfsTer23])
c.428_*13del (n.[c.428_*13del;His143ArgfsTer23])
 ClinVar dbSNP
Xg.154030355C>ACA415162395MECP2c.*12G>T (n.*12G>T)
c.1469G>T (p.Ser490Ile)
c.*845G>T (n.*845G>T)
Xg.154030355C=CA2466570072MECP2c.*12G= (n.*12G=)
c.1469G= (p.Ser490=)
c.*845G= (n.*845G=)
Xg.154030355C>GCA415162409MECP2c.*12G>C (n.*12G>C)
c.1469G>C (p.Ser490Thr)
c.*845G>C (n.*845G>C)
Xg.154030355C>TCA10558420MECP2c.*12G>A (n.*12G>A)
c.1469G>A (p.Ser490Asn)
c.*845G>A (n.*845G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030358_154030377delCA1139667867MECP2c.1454_*12del (n.[c.1454_*12del;Val485AlafsTer10])
c.1490_*12del (n.[c.1490_*12del;Val497AlafsTer10])
c.1450_1469del
c.*826_*845del (n.*826_*845del)
c.1175_*12del (n.[c.1175_*12del;Val392AlafsTer10])
c.785_*12del (n.[c.785_*12del;Val262AlafsTer10])
 ClinVar dbSNP
Xg.154030358_154030381delCA270288MECP2c.1450_*12del (n.[c.1450_*12del;Val485IlefsTer22])
c.1486_*12del (n.[c.1486_*12del;Val497IlefsTer22])
c.1449+1_1469del
c.*822_*845del (n.*822_*845del)
c.1171_*12del (n.[c.1171_*12del;Val392IlefsTer22])
c.781_*12del (n.[c.781_*12del;Val262IlefsTer22])
 ClinVar dbSNP
Xg.154030356T>ACA415162432MECP2c.*11A>T (n.*11A>T)
c.1468A>T (p.Ser490Cys)
c.*844A>T (n.*844A>T)
Xg.154030356T>CCA415162437MECP2c.*11A>G (n.*11A>G)
c.1468A>G (p.Ser490Gly)
c.*844A>G (n.*844A>G)
 gnomAD v4
Xg.154030356T>GCA415162440MECP2c.*11A>C (n.*11A>C)
c.1468A>C (p.Ser490Arg)
c.*844A>C (n.*844A>C)
Xg.154030357C>ACA10558422MECP2c.*10G>T (n.*10G>T)
c.1467G>T (p.Arg489=)
c.*843G>T (n.*843G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030357C=CA2466570073MECP2c.*10G= (n.*10G=)
c.1467G= (p.Arg489=)
c.*843G= (n.*843G=)
Xg.154030357C>GCA2466570074MECP2c.*10G>C (n.*10G>C)
c.1467G>C (p.Arg489=)
c.*843G>C (n.*843G>C)
 dbSNP gnomAD v4
Xg.154030357C>TCA10558421MECP2c.*10G>A (n.*10G>A)
c.1467G>A (p.Arg489=)
c.*843G>A (n.*843G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030358C>ACA415162469MECP2c.*9G>T (n.*9G>T)
c.1466G>T (p.Arg489Leu)
c.*842G>T (n.*842G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154030358C=CA2466570075MECP2c.*9G= (n.*9G=)
c.1466G= (p.Arg489=)
c.*842G= (n.*842G=)
Xg.154030358C>GCA415162470MECP2c.*9G>C (n.*9G>C)
c.1466G>C (p.Arg489Pro)
c.*842G>C (n.*842G>C)
Xg.154030358C>TCA180179MECP2c.*9G>A (n.*9G>A)
c.1466G>A (p.Arg489Gln)
c.*842G>A (n.*842G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.154030359G>ACA170151MECP2c.*8C>T (n.*8C>T)
c.1465C>T (p.Arg489Trp)
c.*841C>T (n.*841C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.154030359G>CCA415162480MECP2c.*8C>G (n.*8C>G)
c.1465C>G (p.Arg489Gly)
c.*841C>G (n.*841C>G)
Xg.154030359G=CA2466570076MECP2c.*8C= (n.*8C=)
c.1465C= (p.Arg489=)
c.*841C= (n.*841C=)
Xg.154030360T>CCA2579736048MECP2c.*7A>G (n.*7A>G)
c.1464A>G (p.Thr488=)
c.*840A>G (n.*840A>G)
Xg.154030361G>ACA415162483MECP2c.*6C>T (n.*6C>T)
c.1463C>T (p.Thr488Ile)
c.*839C>T (n.*839C>T)
Xg.154030361G>CCA415162501MECP2c.*6C>G (n.*6C>G)
c.1463C>G (p.Thr488Arg)
c.*839C>G (n.*839C>G)
Xg.154030361G>TCA415162495MECP2c.*6C>A (n.*6C>A)
c.1463C>A (p.Thr488Lys)
c.*839C>A (n.*839C>A)
 gnomAD v4
Xg.154030362_154030656delCA2573055149MECP2c.1173_*6del (n.[c.1173_*6del;Glu392ArgfsTer22])
c.1209_*6del (n.[c.1209_*6del;Glu404ArgfsTer22])
c.1173_1463del
c.*545_*839del (n.*545_*839del)
c.894_*6del (n.[c.894_*6del;Glu299ArgfsTer22])
c.504_*6del (n.[c.504_*6del;Glu169ArgfsTer22])
 ClinVar dbSNP
Xg.154030362T>ACA10558423MECP2c.*5A>T (n.*5A>T)
c.1462A>T (p.Thr488Ser)
c.*838A>T (n.*838A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154030362T>CCA415162537MECP2c.*5A>G (n.*5A>G)
c.1462A>G (p.Thr488Ala)
c.*838A>G (n.*838A>G)
Xg.154030362T>GCA415162540MECP2c.*5A>C (n.*5A>C)
c.1462A>C (p.Thr488Pro)
c.*838A>C (n.*838A>C)
Xg.154030362T=CA2466570077MECP2c.*5A= (n.*5A=)
c.1462A= (p.Thr488=)
c.*838A= (n.*838A=)
Xg.154030363A=CA2466570078MECP2c.*4T= (n.*4T=)
c.1461T= (p.Phe487=)
c.*837T= (n.*837T=)
Xg.154030363A>CCA415162546MECP2c.*4T>G (n.*4T>G)
c.1461T>G (p.Phe487Leu)
c.*837T>G (n.*837T>G)
Xg.154030363A>GCA10558424MECP2c.*4T>C (n.*4T>C)
c.1461T>C (p.Phe487=)
c.*837T>C (n.*837T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030363A>TCA415162563MECP2c.*4T>A (n.*4T>A)
c.1461T>A (p.Phe487Leu)
c.*837T>A (n.*837T>A)
 gnomAD v4
Xg.154030364_154030365delCA2695099582MECP2c.*3_*4del (n.*3_*4del)
c.1460_1461del (p.Phe487TyrfsTer26)
c.*836_*837del (n.*836_*837del)
 gnomAD v4
Xg.154030364A>CCA415162566MECP2c.*3T>G (n.*3T>G)
c.1460T>G (p.Phe487Cys)
c.*836T>G (n.*836T>G)
Xg.154030364A>GCA415162568MECP2c.*3T>C (n.*3T>C)
c.1460T>C (p.Phe487Ser)
c.*836T>C (n.*836T>C)
Xg.154030364A>TCA415162569MECP2c.*3T>A (n.*3T>A)
c.1460T>A (p.Phe487Tyr)
c.*836T>A (n.*836T>A)
Xg.154030365A>CCA415162579MECP2c.*2T>G (n.*2T>G)
c.1459T>G (p.Phe487Val)
c.*835T>G (n.*835T>G)
Xg.154030365A>GCA415162581MECP2c.*2T>C (n.*2T>C)
c.1459T>C (p.Phe487Leu)
c.*835T>C (n.*835T>C)
Xg.154030365A>TCA415162573MECP2c.*2T>A (n.*2T>A)
c.1459T>A (p.Phe487Ile)
c.*835T>A (n.*835T>A)
Xg.154030366G>CCA10558425MECP2c.*1C>G (n.*1C>G)
c.1458C>G (p.Asp486Glu)
c.*834C>G (n.*834C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030366G=CA2466570079MECP2c.*1C= (n.*1C=)
c.1458C= (p.Asp486=)
c.*834C= (n.*834C=)
Xg.154030366G>TCA415162588MECP2c.*1C>A (n.*1C>A)
c.1458C>A (p.Asp486Glu)
c.*834C>A (n.*834C>A)
Xg.154030367T>ACA415162601MECP2c.1461A>T (p.Ter487Cys)
c.1497A>T (p.Ter499Cys)
c.1457A>T (p.Asp486Val)
c.*833A>T (n.*833A>T)
c.1182A>T (p.Ter394Cys)
c.792A>T (p.Ter264Cys)
Xg.154030367T>CCA170257MECP2c.1461A>G (p.Ter487Trp)
c.1497A>G (p.Ter499Trp)
c.1457A>G (p.Asp486Gly)
c.*833A>G (n.*833A>G)
c.1182A>G (p.Ter394Trp)
c.792A>G (p.Ter264Trp)
 ClinVar dbSNP
Xg.154030367T>GCA270292MECP2c.1461A>C (p.Ter487Cys)
c.1497A>C (p.Ter499Cys)
c.1457A>C (p.Asp486Ala)
c.*833A>C (n.*833A>C)
c.1182A>C (p.Ter394Cys)
c.792A>C (p.Ter264Cys)
 ClinVar dbSNP
Xg.154030367T=CA2466570080MECP2c.1461A= (p.Ter487=)
c.1497A= (p.Ter499=)
c.1457A= (p.Asp486=)
c.*833A= (n.*833A=)
c.1182A= (p.Ter394=)
c.792A= (p.Ter264=)
Xg.154030367_154031450delCA274586MECP2c.378_1461del (p.Pro127PhefsTer24)
c.414_1497del (p.Pro139PhefsTer24)
c.378_1457del
c.378_*833del
c.99_1182del (p.Pro34PhefsTer24)
c.-183_792del
 ClinVar
Xg.154030368C>ACA232951MECP2c.1460G>T (p.Ter487Leu)
c.1496G>T (p.Ter499Leu)
c.1456G>T (p.Asp486Tyr)
c.*832G>T (n.*832G>T)
c.1181G>T (p.Ter394Leu)
c.791G>T (p.Ter264Leu)
 ClinVar dbSNP
Xg.154030368C=CA2466570081MECP2c.1460G= (p.Ter487=)
c.1496G= (p.Ter499=)
c.1456G= (p.Asp486=)
c.*832G= (n.*832G=)
c.1181G= (p.Ter394=)
c.791G= (p.Ter264=)
Xg.154030368C>GCA415162633MECP2c.1460G>C (p.Ter487Ser)
c.1496G>C (p.Ter499Ser)
c.1456G>C (p.Asp486His)
c.*832G>C (n.*832G>C)
c.1181G>C (p.Ter394Ser)
c.791G>C (p.Ter264Ser)
 ClinVar dbSNP
Xg.154030368C>TCA415162637MECP2c.1460G>A (p.Ter487=)
c.1496G>A (p.Ter499=)
c.1456G>A (p.Asp486Asn)
c.*832G>A (n.*832G>A)
c.1181G>A (p.Ter394=)
c.791G>A (p.Ter264=)
 gnomAD v4
Xg.154030369A=CA2466570083MECP2c.1459T= (p.Ter487=)
c.1495T= (p.Ter499=)
c.1455T= (p.Ala485=)
c.*831T= (n.*831T=)
c.1180T= (p.Ter394=)
c.790T= (p.Ter264=)
Xg.154030369A>CCA415162642MECP2c.1459T>G (p.Ter487Gly)
c.1495T>G (p.Ter499Gly)
c.1455T>G (p.Ala485=)
c.*831T>G (n.*831T>G)
c.1180T>G (p.Ter394Gly)
c.790T>G (p.Ter264Gly)
Xg.154030369A>GCA232948MECP2c.1459T>C (p.Ter487Arg)
c.1495T>C (p.Ter499Arg)
c.1455T>C (p.Ala485=)
c.*831T>C (n.*831T>C)
c.1180T>C (p.Ter394Arg)
c.790T>C (p.Ter264Arg)
 ClinVar dbSNP
Xg.154030369A>TCA415162673MECP2c.1459T>A (p.Ter487Arg)
c.1495T>A (p.Ter499Arg)
c.1455T>A (p.Ala485=)
c.*831T>A (n.*831T>A)
c.1180T>A (p.Ter394Arg)
c.790T>A (p.Ter264Arg)
Xg.154030369_154030669delinsAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA2466570082MECP2c.1159_1459delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (p.Pro387=)
c.1195_1495delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (p.Pro399=)
c.1159_1455delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT
c.*531_*831delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (n.*531_*831delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT)
c.880_1180delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (p.Pro294=)
c.490_790delinsCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCT (p.Pro164=)
Xg.154030370G>ACA415162715MECP2c.1458C>T (p.Ser486=)
c.1494C>T (p.Ser498=)
c.1454C>T (p.Ala485Val)
c.*830C>T (n.*830C>T)
c.1179C>T (p.Ser393=)
c.789C>T (p.Ser263=)
 gnomAD v4
Xg.154030370G>CCA415162712MECP2c.1458C>G (p.Ser486Arg)
c.1494C>G (p.Ser498Arg)
c.1454C>G (p.Ala485Gly)
c.*830C>G (n.*830C>G)
c.1179C>G (p.Ser393Arg)
c.789C>G (p.Ser263Arg)
Xg.154030370G>TCA415162682MECP2c.1458C>A (p.Ser486Arg)
c.1494C>A (p.Ser498Arg)
c.1454C>A (p.Ala485Asp)
c.*830C>A (n.*830C>A)
c.1179C>A (p.Ser393Arg)
c.789C>A (p.Ser263Arg)
Xg.154030370_154030374delinsGCTAACA2466570084MECP2c.1454_1458delinsTTAGC (p.Val485=)
c.1490_1494delinsTTAGC (p.Val497=)
c.1450_1454delinsTTAGC (p.Leu484=)
c.*826_*830delinsTTAGC (n.*826_*830delinsTTAGC)
c.1175_1179delinsTTAGC (p.Val392=)
c.785_789delinsTTAGC (p.Val262=)
Xg.154030370_154030669delCA274569MECP2c.1159_1458del (p.Pro387_Ser486del)
c.1195_1494del (p.Pro399_Ser498del)
c.1159_1454del
c.*531_*830del (n.*531_*830del)
c.880_1179del (p.Pro294_Ser393del)
c.490_789del (p.Pro164_Ser263del)
 ClinVar dbSNP
Xg.154030371C>ACA415162722MECP2c.1457G>T (p.Ser486Ile)
c.1493G>T (p.Ser498Ile)
c.1453G>T (p.Ala485Ser)
c.*829G>T (n.*829G>T)
c.1178G>T (p.Ser393Ile)
c.788G>T (p.Ser263Ile)
Xg.154030371C=CA2466570085MECP2c.1457G= (p.Ser486=)
c.1493G= (p.Ser498=)
c.1453G= (p.Ala485=)
c.*829G= (n.*829G=)
c.1178G= (p.Ser393=)
c.788G= (p.Ser263=)
Xg.154030371C>GCA415162731MECP2c.1457G>C (p.Ser486Thr)
c.1493G>C (p.Ser498Thr)
c.1453G>C (p.Ala485Pro)
c.*829G>C (n.*829G>C)
c.1178G>C (p.Ser393Thr)
c.788G>C (p.Ser263Thr)
 gnomAD v4
Xg.154030371C>TCA415162738MECP2c.1457G>A (p.Ser486Asn)
c.1493G>A (p.Ser498Asn)
c.1453G>A (p.Ala485Thr)
c.*829G>A (n.*829G>A)
c.1178G>A (p.Ser393Asn)
c.788G>A (p.Ser263Asn)
Xg.154030373_154030376delCA273848MECP2c.1454_1457del (p.Val485AlafsTer26)
c.1490_1493del (p.Val497AlafsTer26)
c.1450_1453del
c.*826_*829del (n.*826_*829del)
c.1175_1178del (p.Val392AlafsTer26)
c.785_788del (p.Val262AlafsTer26)
 ClinVar dbSNP
Xg.154030372T>ACA415162761MECP2c.1456A>T (p.Ser486Cys)
c.1492A>T (p.Ser498Cys)
c.1452A>T (p.Leu484Phe)
c.*828A>T (n.*828A>T)
c.1177A>T (p.Ser393Cys)
c.787A>T (p.Ser263Cys)
Xg.154030372T>CCA415162767MECP2c.1456A>G (p.Ser486Gly)
c.1492A>G (p.Ser498Gly)
c.1452A>G (p.Leu484=)
c.*828A>G (n.*828A>G)
c.1177A>G (p.Ser393Gly)
c.787A>G (p.Ser263Gly)
Xg.154030372T>GCA415162772MECP2c.1456A>C (p.Ser486Arg)
c.1492A>C (p.Ser498Arg)
c.1452A>C (p.Leu484Phe)
c.*828A>C (n.*828A>C)
c.1177A>C (p.Ser393Arg)
c.787A>C (p.Ser263Arg)
 COSMIC
Xg.154030372_154030373dupCA270291MECP2c.1455_1456dup (p.Ser486IlefsTer27)
c.1491_1492dup (p.Ser498IlefsTer27)
c.1451_1452dup (p.Ala485Ter)
c.*827_*828dup (n.*827_*828dup)
c.1176_1177dup (p.Ser393IlefsTer27)
c.786_787dup (p.Ser263IlefsTer27)
 ClinVar dbSNP
Xg.154030373_154030576delCA273844MECP2c.1253_1456del (p.Met418_Val485del)
c.1289_1492del (p.Met430_Val497del)
c.1253_1452del
c.*625_*828del (n.*625_*828del)
c.974_1177del (p.Met325_Val392del)
c.584_787del (p.Met195_Val262del)
Xg.154030373A>CCA415162794MECP2c.1455T>G (p.Val485=)
c.1491T>G (p.Val497=)
c.1451T>G (p.Leu484Ter)
c.*827T>G (n.*827T>G)
c.1176T>G (p.Val392=)
c.786T>G (p.Val262=)
Xg.154030373A>GCA415162783MECP2c.1455T>C (p.Val485=)
c.1491T>C (p.Val497=)
c.1451T>C (p.Leu484Ser)
c.*827T>C (n.*827T>C)
c.1176T>C (p.Val392=)
c.786T>C (p.Val262=)
Xg.154030373A>TCA415162779MECP2c.1455T>A (p.Val485=)
c.1491T>A (p.Val497=)
c.1451T>A (p.Leu484Ter)
c.*827T>A (n.*827T>A)
c.1176T>A (p.Val392=)
c.786T>A (p.Val262=)
Xg.154030374A>CCA415162801MECP2c.1454T>G (p.Val485Gly)
c.1490T>G (p.Val497Gly)
c.1450T>G (p.Leu484Val)
c.*826T>G (n.*826T>G)
c.1175T>G (p.Val392Gly)
c.785T>G (p.Val262Gly)
Xg.154030374A>GCA415162803MECP2c.1454T>C (p.Val485Ala)
c.1490T>C (p.Val497Ala)
c.1450T>C (p.Leu484=)
c.*826T>C (n.*826T>C)
c.1175T>C (p.Val392Ala)
c.785T>C (p.Val262Ala)
Xg.154030374A>TCA415162805MECP2c.1454T>A (p.Val485Asp)
c.1490T>A (p.Val497Asp)
c.1450T>A (p.Leu484Ile)
c.*826T>A (n.*826T>A)
c.1175T>A (p.Val392Asp)
c.785T>A (p.Val262Asp)
 gnomAD v3 gnomAD v4
Xg.154030374_154030378delinsACTCTCA2466570086MECP2c.1450_1454delinsAGAGT (p.Arg484=)
c.1486_1490delinsAGAGT (p.Arg496=)
c.1449+1_1450delinsAGAGT
c.*822_*826delinsAGAGT (n.*822_*826delinsAGAGT)
c.1171_1175delinsAGAGT (p.Arg391=)
c.781_785delinsAGAGT (p.Arg261=)
Xg.154030375C>ACA415162818MECP2c.1453G>T (p.Val485Phe)
c.1489G>T (p.Val497Phe)
c.1450-1G>T (n.1450-1G>T)
c.*825G>T (n.*825G>T)
c.1174G>T (p.Val392Phe)
c.784G>T (p.Val262Phe)
Xg.154030375C=CA2466570087MECP2c.1453G= (p.Val485=)
c.1489G= (p.Val497=)
c.1450-1G= (n.1450-1G=)
c.*825G= (n.*825G=)
c.1174G= (p.Val392=)
c.784G= (p.Val262=)
Xg.154030375C>GCA10558426MECP2c.1453G>C (p.Val485Leu)
c.1489G>C (p.Val497Leu)
c.1450-1G>C (n.1450-1G>C)
c.*825G>C (n.*825G>C)
c.1174G>C (p.Val392Leu)
c.784G>C (p.Val262Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030375C>TCA415162824MECP2c.1453G>A (p.Val485Ile)
c.1489G>A (p.Val497Ile)
c.1450-1G>A (n.1450-1G>A)
c.*825G>A (n.*825G>A)
c.1174G>A (p.Val392Ile)
c.784G>A (p.Val262Ile)
Xg.154030380_154030381dupCA270290MECP2c.1452_1453dup (p.Val485GlufsTer28)
c.1488_1489dup (p.Val497GlufsTer28)
c.1450-2_1450-1dup
c.*824_*825dup (n.*824_*825dup)
c.1173_1174dup (p.Val392GlufsTer28)
c.783_784dup (p.Val262GlufsTer28)
 ClinVar dbSNP
Xg.154030380_154030381delCA2695099617MECP2c.1452_1453del (p.Arg484SerfsTer2)
c.1488_1489del (p.Arg496SerfsTer2)
c.1450-2_1450-1del
c.*824_*825del (n.*824_*825del)
c.1173_1174del (p.Arg391SerfsTer2)
c.783_784del (p.Arg261SerfsTer2)
 gnomAD v4
Xg.154030378_154030381delCA270289MECP2c.1450_1453del (p.Arg484LeufsTer27)
c.1486_1489del (p.Arg496LeufsTer27)
c.1449+1_1450-1del
c.*822_*825del (n.*822_*825del)
c.1171_1174del (p.Arg391LeufsTer27)
c.781_784del (p.Arg261LeufsTer27)
 ClinVar dbSNP
Xg.154030376T>ACA415162828MECP2c.1452A>T (p.Arg484Ser)
c.1488A>T (p.Arg496Ser)
c.1450-2A>T (n.1450-2A>T)
c.*824A>T (n.*824A>T)
c.1173A>T (p.Arg391Ser)
c.783A>T (p.Arg261Ser)
Xg.154030376T>CCA415162829MECP2c.1452A>G (p.Arg484=)
c.1488A>G (p.Arg496=)
c.1450-2A>G (n.1450-2A>G)
c.*824A>G (n.*824A>G)
c.1173A>G (p.Arg391=)
c.783A>G (p.Arg261=)
 dbSNP
Xg.154030376T>GCA415162833MECP2c.1452A>C (p.Arg484Ser)
c.1488A>C (p.Arg496Ser)
c.1450-2A>C (n.1450-2A>C)
c.*824A>C (n.*824A>C)
c.1173A>C (p.Arg391Ser)
c.783A>C (p.Arg261Ser)
Xg.154030376T=CA2466570088MECP2c.1452A= (p.Arg484=)
c.1488A= (p.Arg496=)
c.1450-2A= (n.1450-2A=)
c.*824A= (n.*824A=)
c.1173A= (p.Arg391=)
c.783A= (p.Arg261=)
Xg.154030377C>ACA415162859MECP2c.1451G>T (p.Arg484Ile)
c.1487G>T (p.Arg496Ile)
c.1450-3G>T (n.1450-3G>T)
c.*823G>T (n.*823G>T)
c.1172G>T (p.Arg391Ile)
c.782G>T (p.Arg261Ile)
Xg.154030377C=CA2466570089MECP2c.1451G= (p.Arg484=)
c.1487G= (p.Arg496=)
c.1450-3G= (n.1450-3G=)
c.*823G= (n.*823G=)
c.1172G= (p.Arg391=)
c.782G= (p.Arg261=)
Xg.154030377C>GCA172565MECP2c.1451G>C (p.Arg484Thr)
c.1487G>C (p.Arg496Thr)
c.1450-3G>C (n.1450-3G>C)
c.*823G>C (n.*823G>C)
c.1172G>C (p.Arg391Thr)
c.782G>C (p.Arg261Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030377C>TCA415162857MECP2c.1451G>A (p.Arg484Lys)
c.1487G>A (p.Arg496Lys)
c.1450-3G>A (n.1450-3G>A)
c.*823G>A (n.*823G>A)
c.1172G>A (p.Arg391Lys)
c.782G>A (p.Arg261Lys)
Xg.154030378T>ACA415162863MECP2c.1450A>T (p.Arg484Ter)
c.1486A>T (p.Arg496Ter)
c.1449+1A>T (n.1449+1A>T)
c.*822A>T (n.*822A>T)
c.1171A>T (p.Arg391Ter)
c.781A>T (p.Arg261Ter)
Xg.154030378T>CCA415162868MECP2c.1450A>G (p.Arg484Gly)
c.1486A>G (p.Arg496Gly)
c.1449+1A>G (n.1449+1A>G)
c.*822A>G (n.*822A>G)
c.1171A>G (p.Arg391Gly)
c.781A>G (p.Arg261Gly)
Xg.154030378T>GCA415162872MECP2c.1450A>C (p.Arg484=)
c.1486A>C (p.Arg496=)
c.1449+1A>C (n.1449+1A>C)
c.*822A>C (n.*822A>C)
c.1171A>C (p.Arg391=)
c.781A>C (p.Arg261=)
Xg.154030379C>ACA415162879MECP2c.1449G>T (p.Glu483Asp)
c.1485G>T (p.Glu495Asp)
c.*821G>T (n.*821G>T)
c.1170G>T (p.Glu390Asp)
c.780G>T (p.Glu260Asp)
Xg.154030379C=CA2466570090MECP2c.1449G= (p.Glu483=)
c.1485G= (p.Glu495=)
c.*821G= (n.*821G=)
c.1170G= (p.Glu390=)
c.780G= (p.Glu260=)
Xg.154030379C>GCA232945MECP2c.1449G>C (p.Glu483Asp)
c.1485G>C (p.Glu495Asp)
c.*821G>C (n.*821G>C)
c.1170G>C (p.Glu390Asp)
c.780G>C (p.Glu260Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154030379C>TCA519704513MECP2c.1449G>A (p.Glu483=)
c.1485G>A (p.Glu495=)
c.*821G>A (n.*821G>A)
c.1170G>A (p.Glu390=)
c.780G>A (p.Glu260=)
 ClinVar
Xg.154030380T>ACA415162892MECP2c.1448A>T (p.Glu483Val)
c.1484A>T (p.Glu495Val)
c.*820A>T (n.*820A>T)
c.1169A>T (p.Glu390Val)
c.779A>T (p.Glu260Val)
Xg.154030380T>CCA415162893MECP2c.1448A>G (p.Glu483Gly)
c.1484A>G (p.Glu495Gly)
c.*820A>G (n.*820A>G)
c.1169A>G (p.Glu390Gly)
c.779A>G (p.Glu260Gly)
Xg.154030380T>GCA415162932MECP2c.1448A>C (p.Glu483Ala)
c.1484A>C (p.Glu495Ala)
c.*820A>C (n.*820A>C)
c.1169A>C (p.Glu390Ala)
c.779A>C (p.Glu260Ala)
Xg.154030381C>ACA156430MECP2c.1447G>T (p.Glu483Ter)
c.1483G>T (p.Glu495Ter)
c.*819G>T (n.*819G>T)
c.1168G>T (p.Glu390Ter)
c.778G>T (p.Glu260Ter)
 ClinVar dbSNP gnomAD v2
Xg.154030381C=CA2466570091MECP2c.1447G= (p.Glu483=)
c.1483G= (p.Glu495=)
c.*819G= (n.*819G=)
c.1168G= (p.Glu390=)
c.778G= (p.Glu260=)
Xg.154030381C>GCA415162937MECP2c.1447G>C (p.Glu483Gln)
c.1483G>C (p.Glu495Gln)
c.*819G>C (n.*819G>C)
c.1168G>C (p.Glu390Gln)
c.778G>C (p.Glu260Gln)
Xg.154030381C>TCA10603533MECP2c.1447G>A (p.Glu483Lys)
c.1483G>A (p.Glu495Lys)
c.*819G>A (n.*819G>A)
c.1168G>A (p.Glu390Lys)
c.778G>A (p.Glu260Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030382G>ACA170254MECP2c.1446C>T (p.Thr482=)
c.1482C>T (p.Thr494=)
c.*818C>T (n.*818C>T)
c.1167C>T (p.Thr389=)
c.777C>T (p.Thr259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030382G>CCA519704514MECP2c.1446C>G (p.Thr482=)
c.1482C>G (p.Thr494=)
c.*818C>G (n.*818C>G)
c.1167C>G (p.Thr389=)
c.777C>G (p.Thr259=)
 dbSNP
Xg.154030382G=CA2466570092MECP2c.1446C= (p.Thr482=)
c.1482C= (p.Thr494=)
c.*818C= (n.*818C=)
c.1167C= (p.Thr389=)
c.777C= (p.Thr259=)
Xg.154030382G>TCA519704515MECP2c.1446C>A (p.Thr482=)
c.1482C>A (p.Thr494=)
c.*818C>A (n.*818C>A)
c.1167C>A (p.Thr389=)
c.777C>A (p.Thr259=)
Xg.154030383G>ACA415162949MECP2c.1445C>T (p.Thr482Ile)
c.1481C>T (p.Thr494Ile)
c.*817C>T (n.*817C>T)
c.1166C>T (p.Thr389Ile)
c.776C>T (p.Thr259Ile)
 gnomAD v4
Xg.154030383G>CCA415162945MECP2c.1445C>G (p.Thr482Ser)
c.1481C>G (p.Thr494Ser)
c.*817C>G (n.*817C>G)
c.1166C>G (p.Thr389Ser)
c.776C>G (p.Thr259Ser)
 gnomAD v4
Xg.154030383G>TCA415162954MECP2c.1445C>A (p.Thr482Asn)
c.1481C>A (p.Thr494Asn)
c.*817C>A (n.*817C>A)
c.1166C>A (p.Thr389Asn)
c.776C>A (p.Thr259Asn)
Xg.154030384T>ACA415162967MECP2c.1444A>T (p.Thr482Ser)
c.1480A>T (p.Thr494Ser)
c.*816A>T (n.*816A>T)
c.1165A>T (p.Thr389Ser)
c.775A>T (p.Thr259Ser)
Xg.154030384T>CCA415162980MECP2c.1444A>G (p.Thr482Ala)
c.1480A>G (p.Thr494Ala)
c.*816A>G (n.*816A>G)
c.1165A>G (p.Thr389Ala)
c.775A>G (p.Thr259Ala)
Xg.154030384T>GCA415162973MECP2c.1444A>C (p.Thr482Pro)
c.1480A>C (p.Thr494Pro)
c.*816A>C (n.*816A>C)
c.1165A>C (p.Thr389Pro)
c.775A>C (p.Thr259Pro)
Xg.154030385C>ACA519704518MECP2c.1443G>T (p.Val481=)
c.1479G>T (p.Val493=)
c.*815G>T (n.*815G>T)
c.1164G>T (p.Val388=)
c.774G>T (p.Val258=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154030385C=CA2466570093MECP2c.1443G= (p.Val481=)
c.1479G= (p.Val493=)
c.*815G= (n.*815G=)
c.1164G= (p.Val388=)
c.774G= (p.Val258=)
Xg.154030385C>GCA519704516MECP2c.1443G>C (p.Val481=)
c.1479G>C (p.Val493=)
c.*815G>C (n.*815G>C)
c.1164G>C (p.Val388=)
c.774G>C (p.Val258=)
Xg.154030385C>TCA519704517MECP2c.1443G>A (p.Val481=)
c.1479G>A (p.Val493=)
c.*815G>A (n.*815G>A)
c.1164G>A (p.Val388=)
c.774G>A (p.Val258=)
 ClinVar
Xg.154030386A>CCA415162992MECP2c.1442T>G (p.Val481Gly)
c.1478T>G (p.Val493Gly)
c.*814T>G (n.*814T>G)
c.1163T>G (p.Val388Gly)
c.773T>G (p.Val258Gly)
Xg.154030386A>GCA415162998MECP2c.1442T>C (p.Val481Ala)
c.1478T>C (p.Val493Ala)
c.*814T>C (n.*814T>C)
c.1163T>C (p.Val388Ala)
c.773T>C (p.Val258Ala)
Xg.154030386A>TCA415163001MECP2c.1442T>A (p.Val481Glu)
c.1478T>A (p.Val493Glu)
c.*814T>A (n.*814T>A)
c.1163T>A (p.Val388Glu)
c.773T>A (p.Val258Glu)
Xg.154030387C>ACA415163010MECP2c.1441G>T (p.Val481Leu)
c.1477G>T (p.Val493Leu)
c.*813G>T (n.*813G>T)
c.1162G>T (p.Val388Leu)
c.772G>T (p.Val258Leu)
Xg.154030387C=CA2466570094MECP2c.1441G= (p.Val481=)
c.1477G= (p.Val493=)
c.*813G= (n.*813G=)
c.1162G= (p.Val388=)
c.772G= (p.Val258=)
Xg.154030387C>GCA415163013MECP2c.1441G>C (p.Val481Leu)
c.1477G>C (p.Val493Leu)
c.*813G>C (n.*813G>C)
c.1162G>C (p.Val388Leu)
c.772G>C (p.Val258Leu)
Xg.154030387C>TCA208886MECP2c.1441G>A (p.Val481Met)
c.1477G>A (p.Val493Met)
c.*813G>A (n.*813G>A)
c.1162G>A (p.Val388Met)
c.772G>A (p.Val258Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030388G>ACA10558427MECP2c.1440C>T (p.Pro480=)
c.1476C>T (p.Pro492=)
c.*812C>T (n.*812C>T)
c.1161C>T (p.Pro387=)
c.771C>T (p.Pro257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154030388G>CCA519704519MECP2c.1440C>G (p.Pro480=)
c.1476C>G (p.Pro492=)
c.*812C>G (n.*812C>G)
c.1161C>G (p.Pro387=)
c.771C>G (p.Pro257=)
Xg.154030388G=CA2466570095MECP2c.1440C= (p.Pro480=)
c.1476C= (p.Pro492=)
c.*812C= (n.*812C=)
c.1161C= (p.Pro387=)
c.771C= (p.Pro257=)
Xg.154030388G>TCA519704520MECP2c.1440C>A (p.Pro480=)
c.1476C>A (p.Pro492=)
c.*812C>A (n.*812C>A)
c.1161C>A (p.Pro387=)
c.771C>A (p.Pro257=)
Xg.154030389G>ACA415163033MECP2c.1439C>T (p.Pro480Leu)
c.1475C>T (p.Pro492Leu)
c.*811C>T (n.*811C>T)
c.1160C>T (p.Pro387Leu)
c.770C>T (p.Pro257Leu)
 ClinVar COSMIC
Xg.154030389G>CCA415163036MECP2c.1439C>G (p.Pro480Arg)
c.1475C>G (p.Pro492Arg)
c.*811C>G (n.*811C>G)
c.1160C>G (p.Pro387Arg)
c.770C>G (p.Pro257Arg)
Xg.154030389G=CA2466570096MECP2c.1439C= (p.Pro480=)
c.1475C= (p.Pro492=)
c.*811C= (n.*811C=)
c.1160C= (p.Pro387=)
c.770C= (p.Pro257=)
Xg.154030389G>TCA10558428MECP2c.1439C>A (p.Pro480His)
c.1475C>A (p.Pro492His)
c.*811C>A (n.*811C>A)
c.1160C>A (p.Pro387His)
c.770C>A (p.Pro257His)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154030392_154030398delCA2695099662MECP2c.1433_1439del (p.Arg478ProfsTer2)
c.1469_1475del (p.Arg490ProfsTer2)
c.*805_*811del (n.*805_*811del)
c.1154_1160del (p.Arg385ProfsTer2)
c.764_770del (p.Arg255ProfsTer2)
 gnomAD v4
Xg.154030390G>ACA170251MECP2c.1438C>T (p.Pro480Ser)
c.1474C>T (p.Pro492Ser)
c.*810C>T (n.*810C>T)
c.1159C>T (p.Pro387Ser)
c.769C>T (p.Pro257Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030390G>CCA415163042MECP2c.1438C>G (p.Pro480Ala)
c.1474C>G (p.Pro492Ala)
c.*810C>G (n.*810C>G)
c.1159C>G (p.Pro387Ala)
c.769C>G (p.Pro257Ala)
Xg.154030390G=CA2466570097MECP2c.1438C= (p.Pro480=)
c.1474C= (p.Pro492=)
c.*810C= (n.*810C=)
c.1159C= (p.Pro387=)
c.769C= (p.Pro257=)
Xg.154030390G>TCA415163048MECP2c.1438C>A (p.Pro480Thr)
c.1474C>A (p.Pro492Thr)
c.*810C>A (n.*810C>A)
c.1159C>A (p.Pro387Thr)
c.769C>A (p.Pro257Thr)
Xg.154030391C>ACA519704521MECP2c.1437G>T (p.Thr479=)
c.1473G>T (p.Thr491=)
c.*809G>T (n.*809G>T)
c.1158G>T (p.Thr386=)
c.768G>T (p.Thr256=)
Xg.154030391C=CA2466570098MECP2c.1437G= (p.Thr479=)
c.1473G= (p.Thr491=)
c.*809G= (n.*809G=)
c.1158G= (p.Thr386=)
c.768G= (p.Thr256=)
Xg.154030391C>GCA519704522MECP2c.1437G>C (p.Thr479=)
c.1473G>C (p.Thr491=)
c.*809G>C (n.*809G>C)
c.1158G>C (p.Thr386=)
c.768G>C (p.Thr256=)
Xg.154030391C>TCA180180MECP2c.1437G>A (p.Thr479=)
c.1473G>A (p.Thr491=)
c.*809G>A (n.*809G>A)
c.1158G>A (p.Thr386=)
c.768G>A (p.Thr256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.154030392G>ACA170248MECP2c.1436C>T (p.Thr479Met)
c.1472C>T (p.Thr491Met)
c.*808C>T (n.*808C>T)
c.1157C>T (p.Thr386Met)
c.767C>T (p.Thr256Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.154030392G>CCA415163059MECP2c.1436C>G (p.Thr479Arg)
c.1472C>G (p.Thr491Arg)
c.*808C>G (n.*808C>G)
c.1157C>G (p.Thr386Arg)
c.767C>G (p.Thr256Arg)
Xg.154030392G=CA2466570099MECP2c.1436C= (p.Thr479=)
c.1472C= (p.Thr491=)
c.*808C= (n.*808C=)
c.1157C= (p.Thr386=)
c.767C= (p.Thr256=)
Xg.154030392G>TCA415163063MECP2c.1436C>A (p.Thr479Lys)
c.1472C>A (p.Thr491Lys)
c.*808C>A (n.*808C>A)
c.1157C>A (p.Thr386Lys)
c.767C>A (p.Thr256Lys)
Xg.154030393T>ACA415163065MECP2c.1435A>T (p.Thr479Ser)
c.1471A>T (p.Thr491Ser)
c.*807A>T (n.*807A>T)
c.1156A>T (p.Thr386Ser)
c.766A>T (p.Thr256Ser)
Xg.154030393T>CCA415163069MECP2c.1435A>G (p.Thr479Ala)
c.1471A>G (p.Thr491Ala)
c.*807A>G (n.*807A>G)
c.1156A>G (p.Thr386Ala)
c.766A>G (p.Thr256Ala)
Xg.154030393T>GCA415163083MECP2c.1435A>C (p.Thr479Pro)
c.1471A>C (p.Thr491Pro)
c.*807A>C (n.*807A>C)
c.1156A>C (p.Thr386Pro)
c.766A>C (p.Thr256Pro)
Xg.154030394C>ACA519704523MECP2c.1434G>T (p.Arg478=)
c.1470G>T (p.Arg490=)
c.*806G>T (n.*806G>T)
c.1155G>T (p.Arg385=)
c.765G>T (p.Arg255=)
Xg.154030394C>GCA519704524MECP2c.1434G>C (p.Arg478=)
c.1470G>C (p.Arg490=)
c.*806G>C (n.*806G>C)
c.1155G>C (p.Arg385=)
c.765G>C (p.Arg255=)
Xg.154030394C>TCA519704525MECP2c.1434G>A (p.Arg478=)
c.1470G>A (p.Arg490=)
c.*806G>A (n.*806G>A)
c.1155G>A (p.Arg385=)
c.765G>A (p.Arg255=)
Xg.154030395C>ACA415163089MECP2c.1433G>T (p.Arg478Leu)
c.1469G>T (p.Arg490Leu)
c.*805G>T (n.*805G>T)
c.1154G>T (p.Arg385Leu)
c.764G>T (p.Arg255Leu)
Xg.154030395C=CA2466570100MECP2c.1433G= (p.Arg478=)
c.1469G= (p.Arg490=)
c.*805G= (n.*805G=)
c.1154G= (p.Arg385=)
c.764G= (p.Arg255=)
Xg.154030395C>GCA415163090MECP2c.1433G>C (p.Arg478Pro)
c.1469G>C (p.Arg490Pro)
c.*805G>C (n.*805G>C)
c.1154G>C (p.Arg385Pro)
c.764G>C (p.Arg255Pro)
Xg.154030395C>TCA199452MECP2c.1433G>A (p.Arg478Gln)
c.1469G>A (p.Arg490Gln)
c.*805G>A (n.*805G>A)
c.1154G>A (p.Arg385Gln)
c.764G>A (p.Arg255Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030396G>ACA415163094MECP2c.1432C>T (p.Arg478Trp)
c.1468C>T (p.Arg490Trp)
c.*804C>T (n.*804C>T)
c.1153C>T (p.Arg385Trp)
c.763C>T (p.Arg255Trp)
 dbSNP gnomAD v3 gnomAD v4
Xg.154030396G>CCA415163098MECP2c.1432C>G (p.Arg478Gly)
c.1468C>G (p.Arg490Gly)
c.*804C>G (n.*804C>G)
c.1153C>G (p.Arg385Gly)
c.763C>G (p.Arg255Gly)
Xg.154030396G=CA2466570101MECP2c.1432C= (p.Arg478=)
c.1468C= (p.Arg490=)
c.*804C= (n.*804C=)
c.1153C= (p.Arg385=)
c.763C= (p.Arg255=)
Xg.154030396G>TCA519704526MECP2c.1432C>A (p.Arg478=)
c.1468C>A (p.Arg490=)
c.*804C>A (n.*804C>A)
c.1153C>A (p.Arg385=)
c.763C>A (p.Arg255=)
 ClinVar dbSNP
Xg.154030401_154030628delCA2695237584MECP2c.1205_1432del (p.Pro402_Ser477del)
c.1241_1468del (p.Pro414_Ser489del)
c.*577_*804del (n.*577_*804del)
c.926_1153del (p.Pro309_Ser384del)
c.536_763del (p.Pro179_Ser254del)
Xg.154030397G>ACA519704527MECP2c.1431C>T (p.Ser477=)
c.1467C>T (p.Ser489=)
c.*803C>T (n.*803C>T)
c.1152C>T (p.Ser384=)
c.762C>T (p.Ser254=)
 ClinVar COSMIC
Xg.154030397G>CCA415163111MECP2c.1431C>G (p.Ser477Arg)
c.1467C>G (p.Ser489Arg)
c.*803C>G (n.*803C>G)
c.1152C>G (p.Ser384Arg)
c.762C>G (p.Ser254Arg)
Xg.154030397G>TCA415163115MECP2c.1431C>A (p.Ser477Arg)
c.1467C>A (p.Ser489Arg)
c.*803C>A (n.*803C>A)
c.1152C>A (p.Ser384Arg)
c.762C>A (p.Ser254Arg)
Xg.154030398C>ACA415163118MECP2c.1430G>T (p.Ser477Ile)
c.1466G>T (p.Ser489Ile)
c.*802G>T (n.*802G>T)
c.1151G>T (p.Ser384Ile)
c.761G>T (p.Ser254Ile)
Xg.154030398C=CA2466570102MECP2c.1430G= (p.Ser477=)
c.1466G= (p.Ser489=)
c.*802G= (n.*802G=)
c.1151G= (p.Ser384=)
c.761G= (p.Ser254=)
Xg.154030398C>GCA170245MECP2c.1430G>C (p.Ser477Thr)
c.1466G>C (p.Ser489Thr)
c.*802G>C (n.*802G>C)
c.1151G>C (p.Ser384Thr)
c.761G>C (p.Ser254Thr)
 ClinVar dbSNP gnomAD v4
Xg.154030398C>TCA415163134MECP2c.1430G>A (p.Ser477Asn)
c.1466G>A (p.Ser489Asn)
c.*802G>A (n.*802G>A)
c.1151G>A (p.Ser384Asn)
c.761G>A (p.Ser254Asn)
Xg.154030399T>ACA415163145MECP2c.1429A>T (p.Ser477Cys)
c.1465A>T (p.Ser489Cys)
c.*801A>T (n.*801A>T)
c.1150A>T (p.Ser384Cys)
c.760A>T (p.Ser254Cys)
Xg.154030399T>CCA415163151MECP2c.1429A>G (p.Ser477Gly)
c.1465A>G (p.Ser489Gly)
c.*801A>G (n.*801A>G)
c.1150A>G (p.Ser384Gly)
c.760A>G (p.Ser254Gly)
Xg.154030399T>GCA415163159MECP2c.1429A>C (p.Ser477Arg)
c.1465A>C (p.Ser489Arg)
c.*801A>C (n.*801A>C)
c.1150A>C (p.Ser384Arg)
c.760A>C (p.Ser254Arg)
Xg.154030400G>ACA519704528MECP2c.1428C>T (p.Asp476=)
c.1464C>T (p.Asp488=)
c.*800C>T (n.*800C>T)
c.1149C>T (p.Asp383=)
c.759C>T (p.Asp253=)
Xg.154030400G>CCA415163166MECP2c.1428C>G (p.Asp476Glu)
c.1464C>G (p.Asp488Glu)
c.*800C>G (n.*800C>G)
c.1149C>G (p.Asp383Glu)
c.759C>G (p.Asp253Glu)
Xg.154030400G>TCA415163174MECP2c.1428C>A (p.Asp476Glu)
c.1464C>A (p.Asp488Glu)
c.*800C>A (n.*800C>A)
c.1149C>A (p.Asp383Glu)
c.759C>A (p.Asp253Glu)
Xg.154030400_154030430delCA2695237585MECP2c.1398_1428del (p.Met466IlefsTer6)
c.1434_1464del (p.Met478IlefsTer6)
c.*770_*800del (n.*770_*800del)
c.1119_1149del (p.Met373IlefsTer6)
c.729_759del (p.Met243IlefsTer6)
Xg.154030401T>ACA415163199MECP2c.1427A>T (p.Asp476Val)
c.1463A>T (p.Asp488Val)
c.*799A>T (n.*799A>T)
c.1148A>T (p.Asp383Val)
c.758A>T (p.Asp253Val)
Xg.154030401T>CCA415163189MECP2c.1427A>G (p.Asp476Gly)
c.1463A>G (p.Asp488Gly)
c.*799A>G (n.*799A>G)
c.1148A>G (p.Asp383Gly)
c.758A>G (p.Asp253Gly)
Xg.154030401T>GCA415163186MECP2c.1427A>C (p.Asp476Ala)
c.1463A>C (p.Asp488Ala)
c.*799A>C (n.*799A>C)
c.1148A>C (p.Asp383Ala)
c.758A>C (p.Asp253Ala)
Xg.154030402C>ACA415163201MECP2c.1426G>T (p.Asp476Tyr)
c.1462G>T (p.Asp488Tyr)
c.*798G>T (n.*798G>T)
c.1147G>T (p.Asp383Tyr)
c.757G>T (p.Asp253Tyr)
Xg.154030402C>GCA415163203MECP2c.1426G>C (p.Asp476His)
c.1462G>C (p.Asp488His)
c.*798G>C (n.*798G>C)
c.1147G>C (p.Asp383His)
c.757G>C (p.Asp253His)
Xg.154030402C>TCA415163208MECP2c.1426G>A (p.Asp476Asn)
c.1462G>A (p.Asp488Asn)
c.*798G>A (n.*798G>A)
c.1147G>A (p.Asp383Asn)
c.757G>A (p.Asp253Asn)
Xg.154030403C>ACA519704530MECP2c.1425G>T (p.Val475=)
c.1461G>T (p.Val487=)
c.*797G>T (n.*797G>T)
c.1146G>T (p.Val382=)
c.756G>T (p.Val252=)
Xg.154030403C>GCA519704531MECP2c.1425G>C (p.Val475=)
c.1461G>C (p.Val487=)
c.*797G>C (n.*797G>C)
c.1146G>C (p.Val382=)
c.756G>C (p.Val252=)
Xg.154030403C>TCA519704532MECP2c.1425G>A (p.Val475=)
c.1461G>A (p.Val487=)
c.*797G>A (n.*797G>A)
c.1146G>A (p.Val382=)
c.756G>A (p.Val252=)
Xg.154030404A>CCA415163214MECP2c.1424T>G (p.Val475Gly)
c.1460T>G (p.Val487Gly)
c.*796T>G (n.*796T>G)
c.1145T>G (p.Val382Gly)
c.755T>G (p.Val252Gly)
Xg.154030404A>GCA415163219MECP2c.1424T>C (p.Val475Ala)
c.1460T>C (p.Val487Ala)
c.*796T>C (n.*796T>C)
c.1145T>C (p.Val382Ala)
c.755T>C (p.Val252Ala)
 gnomAD v4
Xg.154030404A>TCA415163233MECP2c.1424T>A (p.Val475Glu)
c.1460T>A (p.Val487Glu)
c.*796T>A (n.*796T>A)
c.1145T>A (p.Val382Glu)
c.755T>A (p.Val252Glu)
Xg.154030405C>ACA415163239MECP2c.1423G>T (p.Val475Leu)
c.1459G>T (p.Val487Leu)
c.*795G>T (n.*795G>T)
c.1144G>T (p.Val382Leu)
c.754G>T (p.Val252Leu)
Xg.154030405C>GCA415163240MECP2c.1423G>C (p.Val475Leu)
c.1459G>C (p.Val487Leu)
c.*795G>C (n.*795G>C)
c.1144G>C (p.Val382Leu)
c.754G>C (p.Val252Leu)
 ClinVar
Xg.154030405C>TCA415163242MECP2c.1423G>A (p.Val475Met)
c.1459G>A (p.Val487Met)
c.*795G>A (n.*795G>A)
c.1144G>A (p.Val382Met)
c.754G>A (p.Val252Met)
Xg.154030406A=CA2466570103MECP2c.1422T= (p.Pro474=)
c.1458T= (p.Pro486=)
c.*794T= (n.*794T=)
c.1143T= (p.Pro381=)
c.753T= (p.Pro251=)
Xg.154030406A>CCA519704533MECP2c.1422T>G (p.Pro474=)
c.1458T>G (p.Pro486=)
c.*794T>G (n.*794T>G)
c.1143T>G (p.Pro381=)
c.753T>G (p.Pro251=)
Xg.154030406A>GCA519704534MECP2c.1422T>C (p.Pro474=)
c.1458T>C (p.Pro486=)
c.*794T>C (n.*794T>C)
c.1143T>C (p.Pro381=)
c.753T>C (p.Pro251=)
 ClinVar dbSNP gnomAD v4
Xg.154030406A>TCA519704535MECP2c.1422T>A (p.Pro474=)
c.1458T>A (p.Pro486=)
c.*794T>A (n.*794T>A)
c.1143T>A (p.Pro381=)
c.753T>A (p.Pro251=)
Xg.154030406_154030407dupCA2695099688MECP2c.1421_1422dup (p.Val475LeufsTer8)
c.1457_1458dup (p.Val487LeufsTer8)
c.*793_*794dup (n.*793_*794dup)
c.1142_1143dup (p.Val382LeufsTer8)
c.752_753dup (p.Val252LeufsTer8)
 gnomAD v4
Xg.154030407G>ACA415163247MECP2c.1421C>T (p.Pro474Leu)
c.1457C>T (p.Pro486Leu)
c.*793C>T (n.*793C>T)
c.1142C>T (p.Pro381Leu)
c.752C>T (p.Pro251Leu)
Xg.154030407G>CCA415163248MECP2c.1421C>G (p.Pro474Arg)
c.1457C>G (p.Pro486Arg)
c.*793C>G (n.*793C>G)
c.1142C>G (p.Pro381Arg)
c.752C>G (p.Pro251Arg)
Xg.154030407G>TCA415163249MECP2c.1421C>A (p.Pro474His)
c.1457C>A (p.Pro486His)
c.*793C>A (n.*793C>A)
c.1142C>A (p.Pro381His)
c.752C>A (p.Pro251His)
Xg.154030408G>ACA294673MECP2c.1420C>T (p.Pro474Ser)
c.1456C>T (p.Pro486Ser)
c.*792C>T (n.*792C>T)
c.1141C>T (p.Pro381Ser)
c.751C>T (p.Pro251Ser)
 dbSNP
Xg.154030408G>CCA415163272MECP2c.1420C>G (p.Pro474Ala)
c.1456C>G (p.Pro486Ala)
c.*792C>G (n.*792C>G)
c.1141C>G (p.Pro381Ala)
c.751C>G (p.Pro251Ala)
Xg.154030408G=CA2466570104MECP2c.1420C= (p.Pro474=)
c.1456C= (p.Pro486=)
c.*792C= (n.*792C=)
c.1141C= (p.Pro381=)
c.751C= (p.Pro251=)
Xg.154030408G>TCA415163255MECP2c.1420C>A (p.Pro474Thr)
c.1456C>A (p.Pro486Thr)
c.*792C>A (n.*792C>A)
c.1141C>A (p.Pro381Thr)
c.751C>A (p.Pro251Thr)
Xg.154030409C>ACA415163273MECP2c.1419G>T (p.Glu473Asp)
c.1455G>T (p.Glu485Asp)
c.*791G>T (n.*791G>T)
c.1140G>T (p.Glu380Asp)
c.750G>T (p.Glu250Asp)
 gnomAD v4
Xg.154030409C=CA2466570105MECP2c.1419G= (p.Glu473=)
c.1455G= (p.Glu485=)
c.*791G= (n.*791G=)
c.1140G= (p.Glu380=)
c.750G= (p.Glu250=)
Xg.154030409C>GCA10558429MECP2c.1419G>C (p.Glu473Asp)
c.1455G>C (p.Glu485Asp)
c.*791G>C (n.*791G>C)
c.1140G>C (p.Glu380Asp)
c.750G>C (p.Glu250Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030409C>TCA10558430MECP2c.1419G>A (p.Glu473=)
c.1455G>A (p.Glu485=)
c.*791G>A (n.*791G>A)
c.1140G>A (p.Glu380=)
c.750G>A (p.Glu250=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030412_154030414dupCA2580612305MECP2c.1417_1419dup (p.Glu473_Pro474insGlu)
c.1453_1455dup (p.Glu485_Pro486insGlu)
c.*789_*791dup (n.*789_*791dup)
c.1138_1140dup (p.Glu380_Pro381insGlu)
c.748_750dup (p.Glu250_Pro251insGlu)
 ClinVar
Xg.154030410T>ACA415163280MECP2c.1418A>T (p.Glu473Val)
c.1454A>T (p.Glu485Val)
c.*790A>T (n.*790A>T)
c.1139A>T (p.Glu380Val)
c.749A>T (p.Glu250Val)
Xg.154030410T>CCA415163284MECP2c.1418A>G (p.Glu473Gly)
c.1454A>G (p.Glu485Gly)
c.*790A>G (n.*790A>G)
c.1139A>G (p.Glu380Gly)
c.749A>G (p.Glu250Gly)
Xg.154030410T>GCA415163285MECP2c.1418A>C (p.Glu473Ala)
c.1454A>C (p.Glu485Ala)
c.*790A>C (n.*790A>C)
c.1139A>C (p.Glu380Ala)
c.749A>C (p.Glu250Ala)
Xg.154030411C>ACA415163287MECP2c.1417G>T (p.Glu473Ter)
c.1453G>T (p.Glu485Ter)
c.*789G>T (n.*789G>T)
c.1138G>T (p.Glu380Ter)
c.748G>T (p.Glu250Ter)
Xg.154030411C=CA2466570107MECP2c.1417G= (p.Glu473=)
c.1453G= (p.Glu485=)
c.*789G= (n.*789G=)
c.1138G= (p.Glu380=)
c.748G= (p.Glu250=)
Xg.154030411C>GCA10558431MECP2c.1417G>C (p.Glu473Gln)
c.1453G>C (p.Glu485Gln)
c.*789G>C (n.*789G>C)
c.1138G>C (p.Glu380Gln)
c.748G>C (p.Glu250Gln)
 ClinVar dbSNP ExAC gnomAD v2
Xg.154030411C>TCA415163291MECP2c.1417G>A (p.Glu473Lys)
c.1453G>A (p.Glu485Lys)
c.*789G>A (n.*789G>A)
c.1138G>A (p.Glu380Lys)
c.748G>A (p.Glu250Lys)
Xg.154030412dupCA2500894991MECP2c.1417dup (p.Glu473GlyfsTer14)
c.1453dup (p.Glu485GlyfsTer14)
c.*789dup (n.*789dup)
c.1138dup (p.Glu380GlyfsTer14)
c.748dup (p.Glu250GlyfsTer14)
Xg.154030411_154030413delinsCCTCA2466570106MECP2c.1415_1417delinsAGG (p.Glu472=)
c.1451_1453delinsAGG (p.Glu484=)
c.*787_*789delinsAGG (n.*787_*789delinsAGG)
c.1136_1138delinsAGG (p.Glu379=)
c.746_748delinsAGG (p.Glu249=)
Xg.154030411_154030557delinsCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCACA2466570108MECP2c.1271_1417delinsTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGG (p.Leu424=)
c.1307_1453delinsTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGG (p.Leu436=)
c.*643_*789delinsTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGG (n.*643_*789delinsTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGG)
c.992_1138delinsTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGG (p.Leu331=)
c.602_748delinsTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGG (p.Leu201=)
Xg.154030412C>ACA415163315MECP2c.1416G>T (p.Glu472Asp)
c.1452G>T (p.Glu484Asp)
c.*788G>T (n.*788G>T)
c.1137G>T (p.Glu379Asp)
c.747G>T (p.Glu249Asp)
Xg.154030412C>GCA415163310MECP2c.1416G>C (p.Glu472Asp)
c.1452G>C (p.Glu484Asp)
c.*788G>C (n.*788G>C)
c.1137G>C (p.Glu379Asp)
c.747G>C (p.Glu249Asp)
 ClinVar dbSNP gnomAD v4
Xg.154030412C>TCA519704536MECP2c.1416G>A (p.Glu472=)
c.1452G>A (p.Glu484=)
c.*788G>A (n.*788G>A)
c.1137G>A (p.Glu379=)
c.747G>A (p.Glu249=)
Xg.154030416_154030417dupCA2580617839MECP2c.1415_1416dup (p.Glu473ArgfsTer10)
c.1451_1452dup (p.Glu485ArgfsTer10)
c.*787_*788dup (n.*787_*788dup)
c.1136_1137dup (p.Glu380ArgfsTer10)
c.746_747dup (p.Glu250ArgfsTer10)
 ClinVar
Xg.154030416_154030417delCA170244MECP2c.1415_1416del (p.Glu472GlyfsTer14)
c.1451_1452del (p.Glu484GlyfsTer14)
c.*787_*788del (n.*787_*788del)
c.1136_1137del (p.Glu379GlyfsTer14)
c.746_747del (p.Glu249GlyfsTer14)
 ClinVar dbSNP
Xg.154030412_154030557delCA235619MECP2c.1271_1416del (p.Leu424ArgfsTer14)
c.1307_1452del (p.Leu436ArgfsTer14)
c.*643_*788del (n.*643_*788del)
c.992_1137del (p.Leu331ArgfsTer14)
c.602_747del (p.Leu201ArgfsTer14)
 ClinVar dbSNP
Xg.154030413delCA2695237586MECP2c.1415del (p.Glu472GlyfsTer10)
c.1451del (p.Glu484GlyfsTer10)
c.*787del (n.*787del)
c.1136del (p.Glu379GlyfsTer10)
c.746del (p.Glu249GlyfsTer10)
Xg.154030413T>ACA415163318MECP2c.1415A>T (p.Glu472Val)
c.1451A>T (p.Glu484Val)
c.*787A>T (n.*787A>T)
c.1136A>T (p.Glu379Val)
c.746A>T (p.Glu249Val)
Xg.154030413T>CCA415163322MECP2c.1415A>G (p.Glu472Gly)
c.1451A>G (p.Glu484Gly)
c.*787A>G (n.*787A>G)
c.1136A>G (p.Glu379Gly)
c.746A>G (p.Glu249Gly)
Xg.154030413T>GCA415163327MECP2c.1415A>C (p.Glu472Ala)
c.1451A>C (p.Glu484Ala)
c.*787A>C (n.*787A>C)
c.1136A>C (p.Glu379Ala)
c.746A>C (p.Glu249Ala)
Xg.154030414C>ACA415163328MECP2c.1414G>T (p.Glu472Ter)
c.1450G>T (p.Glu484Ter)
c.*786G>T (n.*786G>T)
c.1135G>T (p.Glu379Ter)
c.745G>T (p.Glu249Ter)
Xg.154030414C>GCA415163329MECP2c.1414G>C (p.Glu472Gln)
c.1450G>C (p.Glu484Gln)
c.*786G>C (n.*786G>C)
c.1135G>C (p.Glu379Gln)
c.745G>C (p.Glu249Gln)
Xg.154030414C>TCA415163331MECP2c.1414G>A (p.Glu472Lys)
c.1450G>A (p.Glu484Lys)
c.*786G>A (n.*786G>A)
c.1135G>A (p.Glu379Lys)
c.745G>A (p.Glu249Lys)
Xg.154030415T>ACA415163337MECP2c.1413A>T (p.Arg471Ser)
c.1449A>T (p.Arg483Ser)
c.*785A>T (n.*785A>T)
c.1134A>T (p.Arg378Ser)
c.744A>T (p.Arg248Ser)
Xg.154030415T>CCA519704577MECP2c.1413A>G (p.Arg471=)
c.1449A>G (p.Arg483=)
c.*785A>G (n.*785A>G)
c.1134A>G (p.Arg378=)
c.744A>G (p.Arg248=)
Xg.154030415T>GCA415163357MECP2c.1413A>C (p.Arg471Ser)
c.1449A>C (p.Arg483Ser)
c.*785A>C (n.*785A>C)
c.1134A>C (p.Arg378Ser)
c.744A>C (p.Arg248Ser)
Xg.154030416C>ACA415163359MECP2c.1412G>T (p.Arg471Ile)
c.1448G>T (p.Arg483Ile)
c.*784G>T (n.*784G>T)
c.1133G>T (p.Arg378Ile)
c.743G>T (p.Arg248Ile)
Xg.154030416C=CA2466570111MECP2c.1412G= (p.Arg471=)
c.1448G= (p.Arg483=)
c.*784G= (n.*784G=)
c.1133G= (p.Arg378=)
c.743G= (p.Arg248=)
Xg.154030416C>GCA16609147MECP2c.1412G>C (p.Arg471Thr)
c.1448G>C (p.Arg483Thr)
c.*784G>C (n.*784G>C)
c.1133G>C (p.Arg378Thr)
c.743G>C (p.Arg248Thr)
 ClinVar dbSNP gnomAD v4
Xg.154030416C>TCA415163385MECP2c.1412G>A (p.Arg471Lys)
c.1448G>A (p.Arg483Lys)
c.*784G>A (n.*784G>A)
c.1133G>A (p.Arg378Lys)
c.743G>A (p.Arg248Lys)
Xg.154030416_154030418delinsCTGCA2466570109MECP2c.1410_1412delinsCAG (p.Asn470=)
c.1446_1448delinsCAG (p.Asn482=)
c.*782_*784delinsCAG (n.*782_*784delinsCAG)
c.1131_1133delinsCAG (p.Asn377=)
c.741_743delinsCAG (p.Asn247=)
Xg.154030416_154030420delinsCTGTTCA2466570110MECP2c.1408_1412delinsAACAG (p.Asn470=)
c.1444_1448delinsAACAG (p.Asn482=)
c.*780_*784delinsAACAG (n.*780_*784delinsAACAG)
c.1129_1133delinsAACAG (p.Asn377=)
c.739_743delinsAACAG (p.Asn247=)
Xg.154030417T>ACA415163399MECP2c.1411A>T (p.Arg471Ter)
c.1447A>T (p.Arg483Ter)
c.*783A>T (n.*783A>T)
c.1132A>T (p.Arg378Ter)
c.742A>T (p.Arg248Ter)
Xg.154030417T>CCA415163404MECP2c.1411A>G (p.Arg471Gly)
c.1447A>G (p.Arg483Gly)
c.*783A>G (n.*783A>G)
c.1132A>G (p.Arg378Gly)
c.742A>G (p.Arg248Gly)
Xg.154030417T>GCA519704578MECP2c.1411A>C (p.Arg471=)
c.1447A>C (p.Arg483=)
c.*783A>C (n.*783A>C)
c.1132A>C (p.Arg378=)
c.742A>C (p.Arg248=)
Xg.154030418_154030419delCA273847MECP2c.1410_1411del (p.Asn470LysfsTer16)
c.1446_1447del (p.Asn482LysfsTer16)
c.*782_*783del (n.*782_*783del)
c.1131_1132del (p.Asn377LysfsTer16)
c.741_742del (p.Asn247LysfsTer16)
 ClinVar dbSNP
Xg.154030417_154030420delinsCACA274576MECP2c.1408_1411delinsTG (p.Asn470TrpfsTer16)
c.1444_1447delinsTG (p.Asn482TrpfsTer16)
c.*780_*783delinsTG (n.*780_*783delinsTG)
c.1129_1132delinsTG (p.Asn377TrpfsTer16)
c.739_742delinsTG (p.Asn247TrpfsTer16)
 ClinVar dbSNP
Xg.154030418G>ACA519704579MECP2c.1410C>T (p.Asn470=)
c.1446C>T (p.Asn482=)
c.*782C>T (n.*782C>T)
c.1131C>T (p.Asn377=)
c.741C>T (p.Asn247=)
Xg.154030418G>CCA415163410MECP2c.1410C>G (p.Asn470Lys)
c.1446C>G (p.Asn482Lys)
c.*782C>G (n.*782C>G)
c.1131C>G (p.Asn377Lys)
c.741C>G (p.Asn247Lys)
Xg.154030418G>TCA415163418MECP2c.1410C>A (p.Asn470Lys)
c.1446C>A (p.Asn482Lys)
c.*782C>A (n.*782C>A)
c.1131C>A (p.Asn377Lys)
c.741C>A (p.Asn247Lys)
 COSMIC
Xg.154030419T>ACA415163423MECP2c.1409A>T (p.Asn470Ile)
c.1445A>T (p.Asn482Ile)
c.*781A>T (n.*781A>T)
c.1130A>T (p.Asn377Ile)
c.740A>T (p.Asn247Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030419T>CCA415163426MECP2c.1409A>G (p.Asn470Ser)
c.1445A>G (p.Asn482Ser)
c.*781A>G (n.*781A>G)
c.1130A>G (p.Asn377Ser)
c.740A>G (p.Asn247Ser)
Xg.154030419T>GCA415163429MECP2c.1409A>C (p.Asn470Thr)
c.1445A>C (p.Asn482Thr)
c.*781A>C (n.*781A>C)
c.1130A>C (p.Asn377Thr)
c.740A>C (p.Asn247Thr)
Xg.154030419T=CA2466570112MECP2c.1409A= (p.Asn470=)
c.1445A= (p.Asn482=)
c.*781A= (n.*781A=)
c.1130A= (p.Asn377=)
c.740A= (p.Asn247=)
Xg.154030419_154030425delinsTTTGGCCCA2466570113MECP2c.1403_1409delinsGGCCAAA (p.Arg468=)
c.1439_1445delinsGGCCAAA (p.Arg480=)
c.*775_*781delinsGGCCAAA (n.*775_*781delinsGGCCAAA)
c.1124_1130delinsGGCCAAA (p.Arg375=)
c.734_740delinsGGCCAAA (p.Arg245=)
Xg.154030420T>ACA415163435MECP2c.1408A>T (p.Asn470Tyr)
c.1444A>T (p.Asn482Tyr)
c.*780A>T (n.*780A>T)
c.1129A>T (p.Asn377Tyr)
c.739A>T (p.Asn247Tyr)
Xg.154030420T>CCA415163436MECP2c.1408A>G (p.Asn470Asp)
c.1444A>G (p.Asn482Asp)
c.*780A>G (n.*780A>G)
c.1129A>G (p.Asn377Asp)
c.739A>G (p.Asn247Asp)
 gnomAD v4
Xg.154030420T>GCA415163438MECP2c.1408A>C (p.Asn470His)
c.1444A>C (p.Asn482His)
c.*780A>C (n.*780A>C)
c.1129A>C (p.Asn377His)
c.739A>C (p.Asn247His)
Xg.154030425_154030430delCA270284MECP2c.1403_1408del (p.Arg468_Pro469del)
c.1439_1444del (p.Arg480_Pro481del)
c.*775_*780del (n.*775_*780del)
c.1124_1129del (p.Arg375_Pro376del)
c.734_739del (p.Arg245_Pro246del)
 ClinVar dbSNP
Xg.154030421T>ACA519704582MECP2c.1407A>T (p.Pro469=)
c.1443A>T (p.Pro481=)
c.*779A>T (n.*779A>T)
c.1128A>T (p.Pro376=)
c.738A>T (p.Pro246=)
Xg.154030421T>CCA519704583MECP2c.1407A>G (p.Pro469=)
c.1443A>G (p.Pro481=)
c.*779A>G (n.*779A>G)
c.1128A>G (p.Pro376=)
c.738A>G (p.Pro246=)
Xg.154030421T>GCA519704584MECP2c.1407A>C (p.Pro469=)
c.1443A>C (p.Pro481=)
c.*779A>C (n.*779A>C)
c.1128A>C (p.Pro376=)
c.738A>C (p.Pro246=)
Xg.154030422G>ACA415163451MECP2c.1406C>T (p.Pro469Leu)
c.1442C>T (p.Pro481Leu)
c.*778C>T (n.*778C>T)
c.1127C>T (p.Pro376Leu)
c.737C>T (p.Pro246Leu)
 ClinVar
Xg.154030422G>CCA415163457MECP2c.1406C>G (p.Pro469Arg)
c.1442C>G (p.Pro481Arg)
c.*778C>G (n.*778C>G)
c.1127C>G (p.Pro376Arg)
c.737C>G (p.Pro246Arg)
Xg.154030422G>TCA415163463MECP2c.1406C>A (p.Pro469Gln)
c.1442C>A (p.Pro481Gln)
c.*778C>A (n.*778C>A)
c.1127C>A (p.Pro376Gln)
c.737C>A (p.Pro246Gln)
 COSMIC
Xg.154030423G>ACA415163471MECP2c.1405C>T (p.Pro469Ser)
c.1441C>T (p.Pro481Ser)
c.*777C>T (n.*777C>T)
c.1126C>T (p.Pro376Ser)
c.736C>T (p.Pro246Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.154030423G>CCA415163468MECP2c.1405C>G (p.Pro469Ala)
c.1441C>G (p.Pro481Ala)
c.*777C>G (n.*777C>G)
c.1126C>G (p.Pro376Ala)
c.736C>G (p.Pro246Ala)
Xg.154030423G=CA2466570114MECP2c.1405C= (p.Pro469=)
c.1441C= (p.Pro481=)
c.*777C= (n.*777C=)
c.1126C= (p.Pro376=)
c.736C= (p.Pro246=)
Xg.154030423G>TCA415163469MECP2c.1405C>A (p.Pro469Thr)
c.1441C>A (p.Pro481Thr)
c.*777C>A (n.*777C>A)
c.1126C>A (p.Pro376Thr)
c.736C>A (p.Pro246Thr)
Xg.154030424C>ACA415163477MECP2c.1404G>T (p.Arg468Ser)
c.1440G>T (p.Arg480Ser)
c.*776G>T (n.*776G>T)
c.1125G>T (p.Arg375Ser)
c.735G>T (p.Arg245Ser)
Xg.154030424C=CA2466570115MECP2c.1404G= (p.Arg468=)
c.1440G= (p.Arg480=)
c.*776G= (n.*776G=)
c.1125G= (p.Arg375=)
c.735G= (p.Arg245=)
Xg.154030424C>GCA415163483MECP2c.1404G>C (p.Arg468Ser)
c.1440G>C (p.Arg480Ser)
c.*776G>C (n.*776G>C)
c.1125G>C (p.Arg375Ser)
c.735G>C (p.Arg245Ser)
 gnomAD v4
Xg.154030424C>TCA199303MECP2c.1404G>A (p.Arg468=)
c.1440G>A (p.Arg480=)
c.*776G>A (n.*776G>A)
c.1125G>A (p.Arg375=)
c.735G>A (p.Arg245=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154030425dupCA1139667868MECP2c.1404dup (p.Pro469AlafsTer18)
c.1440dup (p.Pro481AlafsTer18)
c.*776dup (n.*776dup)
c.1125dup (p.Pro376AlafsTer18)
c.735dup (p.Pro246AlafsTer18)
 ClinVar dbSNP
Xg.154030425C>ACA415163499MECP2c.1403G>T (p.Arg468Met)
c.1439G>T (p.Arg480Met)
c.*775G>T (n.*775G>T)
c.1124G>T (p.Arg375Met)
c.734G>T (p.Arg245Met)
Xg.154030425C=CA2466570116MECP2c.1403G= (p.Arg468=)
c.1439G= (p.Arg480=)
c.*775G= (n.*775G=)
c.1124G= (p.Arg375=)
c.734G= (p.Arg245=)
Xg.154030425C>GCA415163510MECP2c.1403G>C (p.Arg468Thr)
c.1439G>C (p.Arg480Thr)
c.*775G>C (n.*775G>C)
c.1124G>C (p.Arg375Thr)
c.734G>C (p.Arg245Thr)
 ClinVar dbSNP
Xg.154030425C>TCA415163526MECP2c.1403G>A (p.Arg468Lys)
c.1439G>A (p.Arg480Lys)
c.*775G>A (n.*775G>A)
c.1124G>A (p.Arg375Lys)
c.734G>A (p.Arg245Lys)
Xg.154030426T>ACA415163536MECP2c.1402A>T (p.Arg468Trp)
c.1438A>T (p.Arg480Trp)
c.*774A>T (n.*774A>T)
c.1123A>T (p.Arg375Trp)
c.733A>T (p.Arg245Trp)
Xg.154030426T>CCA415163554MECP2c.1402A>G (p.Arg468Gly)
c.1438A>G (p.Arg480Gly)
c.*774A>G (n.*774A>G)
c.1123A>G (p.Arg375Gly)
c.733A>G (p.Arg245Gly)
Xg.154030426T>GCA519704587MECP2c.1402A>C (p.Arg468=)
c.1438A>C (p.Arg480=)
c.*774A>C (n.*774A>C)
c.1123A>C (p.Arg375=)
c.733A>C (p.Arg245=)
Xg.154030427T>ACA519704589MECP2c.1401A>T (p.Pro467=)
c.1437A>T (p.Pro479=)
c.*773A>T (n.*773A>T)
c.1122A>T (p.Pro374=)
c.732A>T (p.Pro244=)
Xg.154030427T>CCA10558432MECP2c.1401A>G (p.Pro467=)
c.1437A>G (p.Pro479=)
c.*773A>G (n.*773A>G)
c.1122A>G (p.Pro374=)
c.732A>G (p.Pro244=)
 dbSNP ExAC gnomAD v2
Xg.154030427T>GCA519704591MECP2c.1401A>C (p.Pro467=)
c.1437A>C (p.Pro479=)
c.*773A>C (n.*773A>C)
c.1122A>C (p.Pro374=)
c.732A>C (p.Pro244=)
Xg.154030427T=CA2466570117MECP2c.1401A= (p.Pro467=)
c.1437A= (p.Pro479=)
c.*773A= (n.*773A=)
c.1122A= (p.Pro374=)
c.732A= (p.Pro244=)
Xg.154030427_154030667delinsTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGCA2466570118MECP2c.1161_1401delinsCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCA (p.Pro387=)
c.1197_1437delinsCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCA (p.Pro399=)
c.*533_*773delinsCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCA (n.*533_*773delinsCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCA)
c.882_1122delinsCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCA (p.Pro294=)
c.492_732delinsCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCA (p.Pro164=)
Xg.154030428G>ACA415163573MECP2c.1400C>T (p.Pro467Leu)
c.1436C>T (p.Pro479Leu)
c.*772C>T (n.*772C>T)
c.1121C>T (p.Pro374Leu)
c.731C>T (p.Pro244Leu)
 gnomAD v4
Xg.154030428G>CCA205439MECP2c.1400C>G (p.Pro467Arg)
c.1436C>G (p.Pro479Arg)
c.*772C>G (n.*772C>G)
c.1121C>G (p.Pro374Arg)
c.731C>G (p.Pro244Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154030428G=CA2466570119MECP2c.1400C= (p.Pro467=)
c.1436C= (p.Pro479=)
c.*772C= (n.*772C=)
c.1121C= (p.Pro374=)
c.731C= (p.Pro244=)
Xg.154030428G>TCA415163579MECP2c.1400C>A (p.Pro467Gln)
c.1436C>A (p.Pro479Gln)
c.*772C>A (n.*772C>A)
c.1121C>A (p.Pro374Gln)
c.731C>A (p.Pro244Gln)
Xg.154030432_154030671delCA199485MECP2c.1161_1400del (p.Pro388_Pro467del)
c.1197_1436del (p.Pro400_Pro479del)
c.*533_*772del (n.*533_*772del)
c.882_1121del (p.Pro295_Pro374del)
c.492_731del (p.Pro165_Pro244del)
 ClinVar dbSNP
Xg.154030429G>ACA415163604MECP2c.1399C>T (p.Pro467Ser)
c.1435C>T (p.Pro479Ser)
c.*771C>T (n.*771C>T)
c.1120C>T (p.Pro374Ser)
c.730C>T (p.Pro244Ser)
Xg.154030429G>CCA415163607MECP2c.1399C>G (p.Pro467Ala)
c.1435C>G (p.Pro479Ala)
c.*771C>G (n.*771C>G)
c.1120C>G (p.Pro374Ala)
c.730C>G (p.Pro244Ala)
Xg.154030429G=CA2466570120MECP2c.1399C= (p.Pro467=)
c.1435C= (p.Pro479=)
c.*771C= (n.*771C=)
c.1120C= (p.Pro374=)
c.730C= (p.Pro244=)
Xg.154030429G>TCA415163596MECP2c.1399C>A (p.Pro467Thr)
c.1435C>A (p.Pro479Thr)
c.*771C>A (n.*771C>A)
c.1120C>A (p.Pro374Thr)
c.730C>A (p.Pro244Thr)
 dbSNP
Xg.154030430C>ACA415163628MECP2c.1398G>T (p.Met466Ile)
c.1434G>T (p.Met478Ile)
c.*770G>T (n.*770G>T)
c.1119G>T (p.Met373Ile)
c.729G>T (p.Met243Ile)
Xg.154030430C>GCA415163626MECP2c.1398G>C (p.Met466Ile)
c.1434G>C (p.Met478Ile)
c.*770G>C (n.*770G>C)
c.1119G>C (p.Met373Ile)
c.729G>C (p.Met243Ile)
Xg.154030430C>TCA415163631MECP2c.1398G>A (p.Met466Ile)
c.1434G>A (p.Met478Ile)
c.*770G>A (n.*770G>A)
c.1119G>A (p.Met373Ile)
c.729G>A (p.Met243Ile)
Xg.154030430_154030432delinsCATCA2466570121MECP2c.1396_1398delinsATG (p.Met466=)
c.1432_1434delinsATG (p.Met478=)
c.*768_*770delinsATG (n.*768_*770delinsATG)
c.1117_1119delinsATG (p.Met373=)
c.727_729delinsATG (p.Met243=)
Xg.154030431A>CCA415163639MECP2c.1397T>G (p.Met466Arg)
c.1433T>G (p.Met478Arg)
c.*769T>G (n.*769T>G)
c.1118T>G (p.Met373Arg)
c.728T>G (p.Met243Arg)
Xg.154030431A>GCA415163643MECP2c.1397T>C (p.Met466Thr)
c.1433T>C (p.Met478Thr)
c.*769T>C (n.*769T>C)
c.1118T>C (p.Met373Thr)
c.728T>C (p.Met243Thr)
Xg.154030431A>TCA415163652MECP2c.1397T>A (p.Met466Lys)
c.1433T>A (p.Met478Lys)
c.*769T>A (n.*769T>A)
c.1118T>A (p.Met373Lys)
c.728T>A (p.Met243Lys)
Xg.154030431_154030432delCA337261931MECP2c.1396_1397del (p.Met466AlafsTer20)
c.1432_1433del (p.Met478AlafsTer20)
c.*768_*769del (n.*768_*769del)
c.1117_1118del (p.Met373AlafsTer20)
c.727_728del (p.Met243AlafsTer20)
 dbSNP
Xg.154030432T>ACA415163689MECP2c.1396A>T (p.Met466Leu)
c.1432A>T (p.Met478Leu)
c.*768A>T (n.*768A>T)
c.1117A>T (p.Met373Leu)
c.727A>T (p.Met243Leu)
 COSMIC
Xg.154030432T>CCA415163675MECP2c.1396A>G (p.Met466Val)
c.1432A>G (p.Met478Val)
c.*768A>G (n.*768A>G)
c.1117A>G (p.Met373Val)
c.727A>G (p.Met243Val)
 gnomAD v4
Xg.154030432T>GCA415163684MECP2c.1396A>C (p.Met466Leu)
c.1432A>C (p.Met478Leu)
c.*768A>C (n.*768A>C)
c.1117A>C (p.Met373Leu)
c.727A>C (p.Met243Leu)
Xg.154030433G>ACA519704601MECP2c.1395C>T (p.Ser465=)
c.1431C>T (p.Ser477=)
c.*767C>T (n.*767C>T)
c.1116C>T (p.Ser372=)
c.726C>T (p.Ser242=)
 gnomAD v4
Xg.154030433G>CCA519704602MECP2c.1395C>G (p.Ser465=)
c.1431C>G (p.Ser477=)
c.*767C>G (n.*767C>G)
c.1116C>G (p.Ser372=)
c.726C>G (p.Ser242=)
Xg.154030433G>TCA519704600MECP2c.1395C>A (p.Ser465=)
c.1431C>A (p.Ser477=)
c.*767C>A (n.*767C>A)
c.1116C>A (p.Ser372=)
c.726C>A (p.Ser242=)
Xg.154030434G>ACA415163700MECP2c.1394C>T (p.Ser465Phe)
c.1430C>T (p.Ser477Phe)
c.*766C>T (n.*766C>T)
c.1115C>T (p.Ser372Phe)
c.725C>T (p.Ser242Phe)
Xg.154030434G>CCA415163706MECP2c.1394C>G (p.Ser465Cys)
c.1430C>G (p.Ser477Cys)
c.*766C>G (n.*766C>G)
c.1115C>G (p.Ser372Cys)
c.725C>G (p.Ser242Cys)
Xg.154030434G>TCA415163710MECP2c.1394C>A (p.Ser465Tyr)
c.1430C>A (p.Ser477Tyr)
c.*766C>A (n.*766C>A)
c.1115C>A (p.Ser372Tyr)
c.725C>A (p.Ser242Tyr)
Xg.154030435A>CCA415163716MECP2c.1393T>G (p.Ser465Ala)
c.1429T>G (p.Ser477Ala)
c.*765T>G (n.*765T>G)
c.1114T>G (p.Ser372Ala)
c.724T>G (p.Ser242Ala)
Xg.154030435A>GCA415163718MECP2c.1393T>C (p.Ser465Pro)
c.1429T>C (p.Ser477Pro)
c.*765T>C (n.*765T>C)
c.1114T>C (p.Ser372Pro)
c.724T>C (p.Ser242Pro)
 ClinVar
Xg.154030435A>TCA415163723MECP2c.1393T>A (p.Ser465Thr)
c.1429T>A (p.Ser477Thr)
c.*765T>A (n.*765T>A)
c.1114T>A (p.Ser372Thr)
c.724T>A (p.Ser242Thr)
Xg.154030436G>ACA519704608MECP2c.1392C>T (p.Ser464=)
c.1428C>T (p.Ser476=)
c.*764C>T (n.*764C>T)
c.1113C>T (p.Ser371=)
c.723C>T (p.Ser241=)
 COSMIC
Xg.154030436G>CCA519704605MECP2c.1392C>G (p.Ser464=)
c.1428C>G (p.Ser476=)
c.*764C>G (n.*764C>G)
c.1113C>G (p.Ser371=)
c.723C>G (p.Ser241=)
 gnomAD v4
Xg.154030436G>TCA519704606MECP2c.1392C>A (p.Ser464=)
c.1428C>A (p.Ser476=)
c.*764C>A (n.*764C>A)
c.1113C>A (p.Ser371=)
c.723C>A (p.Ser241=)
Xg.154030437G>ACA415163734MECP2c.1391C>T (p.Ser464Phe)
c.1427C>T (p.Ser476Phe)
c.*763C>T (n.*763C>T)
c.1112C>T (p.Ser371Phe)
c.722C>T (p.Ser241Phe)
 ClinVar dbSNP
Xg.154030437G>CCA415163756MECP2c.1391C>G (p.Ser464Cys)
c.1427C>G (p.Ser476Cys)
c.*763C>G (n.*763C>G)
c.1112C>G (p.Ser371Cys)
c.722C>G (p.Ser241Cys)
Xg.154030437G=CA2466570122MECP2c.1391C= (p.Ser464=)
c.1427C= (p.Ser476=)
c.*763C= (n.*763C=)
c.1112C= (p.Ser371=)
c.722C= (p.Ser241=)
Xg.154030437G>TCA415163760MECP2c.1391C>A (p.Ser464Tyr)
c.1427C>A (p.Ser476Tyr)
c.*763C>A (n.*763C>A)
c.1112C>A (p.Ser371Tyr)
c.722C>A (p.Ser241Tyr)
Xg.154030438A>CCA415163777MECP2c.1390T>G (p.Ser464Ala)
c.1426T>G (p.Ser476Ala)
c.*762T>G (n.*762T>G)
c.1111T>G (p.Ser371Ala)
c.721T>G (p.Ser241Ala)
Xg.154030438A>GCA415163763MECP2c.1390T>C (p.Ser464Pro)
c.1426T>C (p.Ser476Pro)
c.*762T>C (n.*762T>C)
c.1111T>C (p.Ser371Pro)
c.721T>C (p.Ser241Pro)
 gnomAD v4
Xg.154030438A>TCA415163767MECP2c.1390T>A (p.Ser464Thr)
c.1426T>A (p.Ser476Thr)
c.*762T>A (n.*762T>A)
c.1111T>A (p.Ser371Thr)
c.721T>A (p.Ser241Thr)
Xg.154030439T>ACA519704611MECP2c.1389A>T (p.Ser463=)
c.1425A>T (p.Ser475=)
c.*761A>T (n.*761A>T)
c.1110A>T (p.Ser370=)
c.720A>T (p.Ser240=)
Xg.154030439T>CCA519704613MECP2c.1389A>G (p.Ser463=)
c.1425A>G (p.Ser475=)
c.*761A>G (n.*761A>G)
c.1110A>G (p.Ser370=)
c.720A>G (p.Ser240=)
Xg.154030439T>GCA519704612MECP2c.1389A>C (p.Ser463=)
c.1425A>C (p.Ser475=)
c.*761A>C (n.*761A>C)
c.1110A>C (p.Ser370=)
c.720A>C (p.Ser240=)
Xg.154030440G>ACA415163784MECP2c.1388C>T (p.Ser463Leu)
c.1424C>T (p.Ser475Leu)
c.*760C>T (n.*760C>T)
c.1109C>T (p.Ser370Leu)
c.719C>T (p.Ser240Leu)
 dbSNP
Xg.154030440G>CCA415163786MECP2c.1388C>G (p.Ser463Ter)
c.1424C>G (p.Ser475Ter)
c.*760C>G (n.*760C>G)
c.1109C>G (p.Ser370Ter)
c.719C>G (p.Ser240Ter)
Xg.154030440G=CA2466570123MECP2c.1388C= (p.Ser463=)
c.1424C= (p.Ser475=)
c.*760C= (n.*760C=)
c.1109C= (p.Ser370=)
c.719C= (p.Ser240=)
Xg.154030440G>TCA415163788MECP2c.1388C>A (p.Ser463Ter)
c.1424C>A (p.Ser475Ter)
c.*760C>A (n.*760C>A)
c.1109C>A (p.Ser370Ter)
c.719C>A (p.Ser240Ter)
 COSMIC
Xg.154030441A=CA2466570124MECP2c.1387T= (p.Ser463=)
c.1423T= (p.Ser475=)
c.*759T= (n.*759T=)
c.1108T= (p.Ser370=)
c.718T= (p.Ser240=)
Xg.154030441A>CCA415163791MECP2c.1387T>G (p.Ser463Ala)
c.1423T>G (p.Ser475Ala)
c.*759T>G (n.*759T>G)
c.1108T>G (p.Ser370Ala)
c.718T>G (p.Ser240Ala)
Xg.154030441A>GCA415163795MECP2c.1387T>C (p.Ser463Pro)
c.1423T>C (p.Ser475Pro)
c.*759T>C (n.*759T>C)
c.1108T>C (p.Ser370Pro)
c.718T>C (p.Ser240Pro)
 ClinVar dbSNP
Xg.154030441A>TCA415163802MECP2c.1387T>A (p.Ser463Thr)
c.1423T>A (p.Ser475Thr)
c.*759T>A (n.*759T>A)
c.1108T>A (p.Ser370Thr)
c.718T>A (p.Ser240Thr)
Xg.154030442A>CCA519704618MECP2c.1386T>G (p.Val462=)
c.1422T>G (p.Val474=)
c.*758T>G (n.*758T>G)
c.1107T>G (p.Val369=)
c.717T>G (p.Val239=)
Xg.154030442A>GCA519704620MECP2c.1386T>C (p.Val462=)
c.1422T>C (p.Val474=)
c.*758T>C (n.*758T>C)
c.1107T>C (p.Val369=)
c.717T>C (p.Val239=)
Xg.154030442A>TCA519704621MECP2c.1386T>A (p.Val462=)
c.1422T>A (p.Val474=)
c.*758T>A (n.*758T>A)
c.1107T>A (p.Val369=)
c.717T>A (p.Val239=)
Xg.154030443A>CCA415163811MECP2c.1385T>G (p.Val462Gly)
c.1421T>G (p.Val474Gly)
c.*757T>G (n.*757T>G)
c.1106T>G (p.Val369Gly)
c.716T>G (p.Val239Gly)
Xg.154030443A>GCA415163813MECP2c.1385T>C (p.Val462Ala)
c.1421T>C (p.Val474Ala)
c.*757T>C (n.*757T>C)
c.1106T>C (p.Val369Ala)
c.716T>C (p.Val239Ala)
Xg.154030443A>TCA415163815MECP2c.1385T>A (p.Val462Asp)
c.1421T>A (p.Val474Asp)
c.*757T>A (n.*757T>A)
c.1106T>A (p.Val369Asp)
c.716T>A (p.Val239Asp)
Xg.154030444_154030445delCA2695202179MECP2c.1384_1385del (p.Val462PhefsTer24)
c.1420_1421del (p.Val474PhefsTer24)
c.*756_*757del (n.*756_*757del)
c.1105_1106del (p.Val369PhefsTer24)
c.715_716del (p.Val239PhefsTer24)
 ClinVar
Xg.154030444C>ACA415163832MECP2c.1384G>T (p.Val462Phe)
c.1420G>T (p.Val474Phe)
c.*756G>T (n.*756G>T)
c.1105G>T (p.Val369Phe)
c.715G>T (p.Val239Phe)
Xg.154030444C=CA2466570125MECP2c.1384G= (p.Val462=)
c.1420G= (p.Val474=)
c.*756G= (n.*756G=)
c.1105G= (p.Val369=)
c.715G= (p.Val239=)
Xg.154030444C>GCA415163828MECP2c.1384G>C (p.Val462Leu)
c.1420G>C (p.Val474Leu)
c.*756G>C (n.*756G>C)
c.1105G>C (p.Val369Leu)
c.715G>C (p.Val239Leu)
 gnomAD v4
Xg.154030444C>TCA415163821MECP2c.1384G>A (p.Val462Ile)
c.1420G>A (p.Val474Ile)
c.*756G>A (n.*756G>A)
c.1105G>A (p.Val369Ile)
c.715G>A (p.Val239Ile)
 dbSNP
Xg.154030445A=CA2466570126MECP2c.1383T= (p.Ile461=)
c.1419T= (p.Ile473=)
c.*755T= (n.*755T=)
c.1104T= (p.Ile368=)
c.714T= (p.Ile238=)
Xg.154030445A>CCA415163834MECP2c.1383T>G (p.Ile461Met)
c.1419T>G (p.Ile473Met)
c.*755T>G (n.*755T>G)
c.1104T>G (p.Ile368Met)
c.714T>G (p.Ile238Met)
 dbSNP gnomAD v4
Xg.154030445A>GCA519704624MECP2c.1383T>C (p.Ile461=)
c.1419T>C (p.Ile473=)
c.*755T>C (n.*755T>C)
c.1104T>C (p.Ile368=)
c.714T>C (p.Ile238=)
 ClinVar dbSNP gnomAD v4
Xg.154030445A>TCA519704626MECP2c.1383T>A (p.Ile461=)
c.1419T>A (p.Ile473=)
c.*755T>A (n.*755T>A)
c.1104T>A (p.Ile368=)
c.714T>A (p.Ile238=)
Xg.154030446A>CCA415163837MECP2c.1382T>G (p.Ile461Ser)
c.1418T>G (p.Ile473Ser)
c.*754T>G (n.*754T>G)
c.1103T>G (p.Ile368Ser)
c.713T>G (p.Ile238Ser)
Xg.154030446A>GCA415163871MECP2c.1382T>C (p.Ile461Thr)
c.1418T>C (p.Ile473Thr)
c.*754T>C (n.*754T>C)
c.1103T>C (p.Ile368Thr)
c.713T>C (p.Ile238Thr)
 dbSNP gnomAD v4
Xg.154030446A>TCA415163875MECP2c.1382T>A (p.Ile461Asn)
c.1418T>A (p.Ile473Asn)
c.*754T>A (n.*754T>A)
c.1103T>A (p.Ile368Asn)
c.713T>A (p.Ile238Asn)
Xg.154030447T>ACA415163886MECP2c.1381A>T (p.Ile461Phe)
c.1417A>T (p.Ile473Phe)
c.*753A>T (n.*753A>T)
c.1102A>T (p.Ile368Phe)
c.712A>T (p.Ile238Phe)
Xg.154030447T>CCA415163899MECP2c.1381A>G (p.Ile461Val)
c.1417A>G (p.Ile473Val)
c.*753A>G (n.*753A>G)
c.1102A>G (p.Ile368Val)
c.712A>G (p.Ile238Val)
 gnomAD v4
Xg.154030447T>GCA415163901MECP2c.1381A>C (p.Ile461Leu)
c.1417A>C (p.Ile473Leu)
c.*753A>C (n.*753A>C)
c.1102A>C (p.Ile368Leu)
c.712A>C (p.Ile238Leu)
Xg.154030448G>ACA519704631MECP2c.1380C>T (p.Asp460=)
c.1416C>T (p.Asp472=)
c.*752C>T (n.*752C>T)
c.1101C>T (p.Asp367=)
c.711C>T (p.Asp237=)
Xg.154030448G>CCA415163902MECP2c.1380C>G (p.Asp460Glu)
c.1416C>G (p.Asp472Glu)
c.*752C>G (n.*752C>G)
c.1101C>G (p.Asp367Glu)
c.711C>G (p.Asp237Glu)
Xg.154030448G>TCA415163903MECP2c.1380C>A (p.Asp460Glu)
c.1416C>A (p.Asp472Glu)
c.*752C>A (n.*752C>A)
c.1101C>A (p.Asp367Glu)
c.711C>A (p.Asp237Glu)

Number of alleles fetched