Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154026923_154030670del | CA16616626 | MECP2 | c.1158_*3444del (n.[c.1158_*3444del;Pro387ThrfsTer?]) c.1194_*3444del (n.[c.1194_*3444del;Pro399ThrfsTer?]) c.1158_*3371del c.489_*3444del (n.[c.489_*3444del;Pro164ThrfsTer?]) c.879_*3444del (n.[c.879_*3444del;Pro294ThrfsTer?]) | ClinVar |
X | g.154027844_154030751del | CA274554 | MECP2 | c.1078_*2524del (n.[c.1078_*2524del;Ser360LeufsTer4]) c.1114_*2524del (n.[c.1114_*2524del;Ser372LeufsTer4]) c.1078_*2451del c.409_*2524del (n.[c.409_*2524del;Ser137LeufsTer4]) c.799_*2524del (n.[c.799_*2524del;Ser267LeufsTer4]) | ClinVar |
X | g.154028067_154030775del | CA915952014 | MECP2 | c.1053_*2300del (n.[c.1053_*2300del;Lys352Ter]) c.1089_*2300del (n.[c.1089_*2300del;Lys364Ter]) c.1053_*2227del c.384_*2300del (n.[c.384_*2300del;Lys129Ter]) c.774_*2300del (n.[c.774_*2300del;Lys259Ter]) | ClinVar |
X | g.154029065_154030675delinsCGGGA | CA2580101831 | MECP2 | c.1153_*1302delinsTCCCG (n.[c.1153_*1302delinsTCCCG;Pro385SerfsTer?]) c.1189_*1302delinsTCCCG (n.[c.1189_*1302delinsTCCCG;Pro397SerfsTer?]) c.1153_*1229delinsTCCCG c.874_*1302delinsTCCCG (n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]) c.484_*1302delinsTCCCG (n.[c.484_*1302delinsTCCCG;Pro162SerfsTer?]) | ClinVar |
X | g.154029424_154030672del | CA274568 | MECP2 | c.1157_*944del (n.[c.1157_*944del;Leu386ProfsTer5]) c.1193_*944del (n.[c.1193_*944del;Leu398ProfsTer5]) c.1157_*871del c.878_*944del (n.[c.878_*944del;Leu293ProfsTer5]) c.488_*944del (n.[c.488_*944del;Leu163ProfsTer5]) | ClinVar |
X | g.154029486_154030374delinsCTCCAACGGGTGGCGCTAGAGGCCATGGAGGCAGTAGGACAAGGTGCAGGCAGGCTGGCCTGGGGTCAGGCCGGGCAGAGCACAGCGGGGTGAGAGGGATTC | CA2697544636 | MECP2 | c.1454_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1454_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val485GlyfsTer60]) c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val497GlyfsTer60]) c.1450_*808delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1450_*808delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Leu484GlufsTer29]) c.1175_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1175_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val392GlyfsTer60]) c.785_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.785_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val262GlyfsTer60]) | ClinVar |
X | g.154029497_154029554delinsTGAGTGATTAGGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCA | CA2466569430 | MECP2 | c.*813_*870delinsTGGCCTGGGGTCAGGCCGGGCAGAGCACAGCGGGGTGAGAGGGATTCCTAATCACTCA (n.*813_*870delinsTGGCCTGGGGTCAGGCCGGGCAGAGCACAGCGGGGTGAGAGGGATTCCTAATCACTCA) c.*740_*797delinsTGGCCTGGGGTCAGGCCGGGCAGAGCACAGCGGGGTGAGAGGGATTCCTAATCACTCA (n.*740_*797delinsTGGCCTGGGGTCAGGCCGGGCAGAGCACAGCGGGGTGAGAGGGATTCCTAATCACTCA) | |
X | g.154029499_154029555del | CA1138553465 | MECP2 | c.*813_*869del (n.*813_*869del) c.*740_*796del (n.*740_*796del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029505del | CA2695097988 | MECP2 | c.*863del (n.*863del) c.*790del (n.*790del) | gnomAD v4 |
X | g.154029504_154030589del | CA916084014 | MECP2 | c.1239_*863del (n.[c.1239_*863del;Lys414HisfsTer8]) c.1275_*863del (n.[c.1275_*863del;Lys426HisfsTer8]) c.1239_*790del c.960_*863del (n.[c.960_*863del;Lys321HisfsTer8]) c.570_*863del (n.[c.570_*863del;Lys191HisfsTer8]) | ClinVar |
X | g.154029505T>C | CA2466569432 | MECP2 | c.*862A>G (n.*862A>G) c.*789A>G (n.*789A>G) | dbSNP |
X | g.154029505T= | CA2466569433 | MECP2 | c.*862A= (n.*862A=) c.*789A= (n.*789A=) | |
X | g.154029506A= | CA2466569434 | MECP2 | c.*861T= (n.*861T=) c.*788T= (n.*788T=) | |
X | g.154029506A>C | CA170148 | MECP2 | c.*861T>G (n.*861T>G) c.*788T>G (n.*788T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029506A>G | CA2695097991 | MECP2 | c.*861T>C (n.*861T>C) c.*788T>C (n.*788T>C) | gnomAD v4 |
X | g.154029507G>T | CA2695097992 | MECP2 | c.*860C>A (n.*860C>A) c.*787C>A (n.*787C>A) | gnomAD v4 |
X | g.154029508G>T | CA2695097993 | MECP2 | c.*859C>A (n.*859C>A) c.*786C>A (n.*786C>A) | gnomAD v4 |
X | g.154029509A= | CA2466569435 | MECP2 | c.*858T= (n.*858T=) c.*785T= (n.*785T=) | |
X | g.154029509A>C | CA2466569436 | MECP2 | c.*858T>G (n.*858T>G) c.*785T>G (n.*785T>G) | dbSNP |
X | g.154029509A>G | CA2695097994 | MECP2 | c.*858T>C (n.*858T>C) c.*785T>C (n.*785T>C) | gnomAD v4 |
X | g.154029510A>G | CA2695097995 | MECP2 | c.*857T>C (n.*857T>C) c.*784T>C (n.*784T>C) | gnomAD v4 |
X | g.154029512C>A | CA337260723 | MECP2 | c.*855G>T (n.*855G>T) c.*782G>T (n.*782G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029512C= | CA2466569437 | MECP2 | c.*855G= (n.*855G=) c.*782G= (n.*782G=) | |
X | g.154029513C>A | CA873290790 | MECP2 | c.*854G>T (n.*854G>T) c.*781G>T (n.*781G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029513C= | CA2466569438 | MECP2 | c.*854G= (n.*854G=) c.*781G= (n.*781G=) | |
X | g.154029513C>T | CA337260725 | MECP2 | c.*854G>A (n.*854G>A) c.*781G>A (n.*781G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029514C>A | CA2695098001 | MECP2 | c.*853G>T (n.*853G>T) c.*780G>T (n.*780G>T) | gnomAD v4 |
X | g.154029514C= | CA2466569439 | MECP2 | c.*853G= (n.*853G=) c.*780G= (n.*780G=) | |
X | g.154029514C>G | CA645169014 | MECP2 | c.*853G>C (n.*853G>C) c.*780G>C (n.*780G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029514C>T | CA873290792 | MECP2 | c.*853G>A (n.*853G>A) c.*780G>A (n.*780G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029515T>C | CA2695098003 | MECP2 | c.*852A>G (n.*852A>G) c.*779A>G (n.*779A>G) | gnomAD v4 |
X | g.154029516C>A | CA2695098008 | MECP2 | c.*851G>T (n.*851G>T) c.*778G>T (n.*778G>T) | gnomAD v4 |
X | g.154029516C= | CA2466569440 | MECP2 | c.*851G= (n.*851G=) c.*778G= (n.*778G=) | |
X | g.154029516C>G | CA337260731 | MECP2 | c.*851G>C (n.*851G>C) c.*778G>C (n.*778G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029516C>T | CA2466569441 | MECP2 | c.*851G>A (n.*851G>A) c.*778G>A (n.*778G>A) | dbSNP gnomAD v4 |
X | g.154029518C>A | CA2695098012 | MECP2 | c.*849G>T (n.*849G>T) c.*776G>T (n.*776G>T) | gnomAD v4 |
X | g.154029518C= | CA2466569442 | MECP2 | c.*849G= (n.*849G=) c.*776G= (n.*776G=) | |
X | g.154029518C>G | CA2466569443 | MECP2 | c.*849G>C (n.*849G>C) c.*776G>C (n.*776G>C) | dbSNP |
X | g.154029519A>C | CA2525179349 | MECP2 | c.*848T>G (n.*848T>G) c.*775T>G (n.*775T>G) | gnomAD v3 gnomAD v4 |
X | g.154029519A>G | CA2695098014 | MECP2 | c.*848T>C (n.*848T>C) c.*775T>C (n.*775T>C) | gnomAD v4 |
X | g.154029520C>A | CA645169017 | MECP2 | c.*847G>T (n.*847G>T) c.*774G>T (n.*774G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154029520C= | CA2466569444 | MECP2 | c.*847G= (n.*847G=) c.*774G= (n.*774G=) | |
X | g.154029520C>G | CA645169016 | MECP2 | c.*847G>C (n.*847G>C) c.*774G>C (n.*774G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029520C>T | CA645169015 | MECP2 | c.*847G>A (n.*847G>A) c.*774G>A (n.*774G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029521C>A | CA2695098023 | MECP2 | c.*846G>T (n.*846G>T) c.*773G>T (n.*773G>T) | gnomAD v4 |
X | g.154029521C= | CA2466569445 | MECP2 | c.*846G= (n.*846G=) c.*773G= (n.*773G=) | |
X | g.154029521C>G | CA337260736 | MECP2 | c.*846G>C (n.*846G>C) c.*773G>C (n.*773G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154029521C>T | CA873290797 | MECP2 | c.*846G>A (n.*846G>A) c.*773G>A (n.*773G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154029522C>A | CA337260737 | MECP2 | c.*845G>T (n.*845G>T) c.*772G>T (n.*772G>T) | dbSNP gnomAD v4 |
X | g.154029522C= | CA2466569446 | MECP2 | c.*845G= (n.*845G=) c.*772G= (n.*772G=) |