OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154026923_154030670del | CA16616626 | MECP2 | c.1158_*3444del (n.[c.1158_*3444del;Pro387ThrfsTer?]) c.1194_*3444del (n.[c.1194_*3444del;Pro399ThrfsTer?]) c.1158_*3371del c.489_*3444del (n.[c.489_*3444del;Pro164ThrfsTer?]) c.879_*3444del (n.[c.879_*3444del;Pro294ThrfsTer?]) | ClinVar |
| X | g.154027844_154030751del | CA274554 | MECP2 | c.1078_*2524del (n.[c.1078_*2524del;Ser360LeufsTer4]) c.1114_*2524del (n.[c.1114_*2524del;Ser372LeufsTer4]) c.1078_*2451del c.409_*2524del (n.[c.409_*2524del;Ser137LeufsTer4]) c.799_*2524del (n.[c.799_*2524del;Ser267LeufsTer4]) | ClinVar |
| X | g.154028067_154030775del | CA915952014 | MECP2 | c.1053_*2300del (n.[c.1053_*2300del;Lys352Ter]) c.1089_*2300del (n.[c.1089_*2300del;Lys364Ter]) c.1053_*2227del c.384_*2300del (n.[c.384_*2300del;Lys129Ter]) c.774_*2300del (n.[c.774_*2300del;Lys259Ter]) | ClinVar |
| X | g.154029065_154030675delinsCGGGA | CA2580101831 | MECP2 | c.1153_*1302delinsTCCCG (n.[c.1153_*1302delinsTCCCG;Pro385SerfsTer?]) c.1189_*1302delinsTCCCG (n.[c.1189_*1302delinsTCCCG;Pro397SerfsTer?]) c.1153_*1229delinsTCCCG c.874_*1302delinsTCCCG (n.[c.874_*1302delinsTCCCG;Pro292SerfsTer?]) c.484_*1302delinsTCCCG (n.[c.484_*1302delinsTCCCG;Pro162SerfsTer?]) | ClinVar |
| X | g.154029424_154030672del | CA274568 | MECP2 | c.1157_*944del (n.[c.1157_*944del;Leu386ProfsTer5]) c.1193_*944del (n.[c.1193_*944del;Leu398ProfsTer5]) c.1157_*871del c.878_*944del (n.[c.878_*944del;Leu293ProfsTer5]) c.488_*944del (n.[c.488_*944del;Leu163ProfsTer5]) | ClinVar |
| X | g.154029486_154030374delinsCTCCAACGGGTGGCGCTAGAGGCCATGGAGGCAGTAGGACAAGGTGCAGGCAGGCTGGCCTGGGGTCAGGCCGGGCAGAGCACAGCGGGGTGAGAGGGATTC | CA2697544636 | MECP2 | c.1454_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1454_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val485GlyfsTer60]) c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val497GlyfsTer60]) c.1450_*808delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1450_*808delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Leu484GlufsTer29]) c.1175_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.1175_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val392GlyfsTer60]) c.785_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (n.[c.785_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG;Val262GlyfsTer60]) | ClinVar |
| X | g.154029504_154030589del | CA916084014 | MECP2 | c.1239_*863del (n.[c.1239_*863del;Lys414HisfsTer8]) c.1275_*863del (n.[c.1275_*863del;Lys426HisfsTer8]) c.1239_*790del c.960_*863del (n.[c.960_*863del;Lys321HisfsTer8]) c.570_*863del (n.[c.570_*863del;Lys191HisfsTer8]) | ClinVar |
| X | g.154029637_154029719del | CA2695098234 | MECP2 | c.*656_*738del (n.*656_*738del) c.*583_*665del (n.*583_*665del) | gnomAD v4 |
| X | g.154029705dup | CA2824280994 | MECP2 | c.*667dup (n.*667dup) c.*594dup (n.*594dup) | |
| X | g.154029705del | CA873290948 | MECP2 | c.*667del (n.*667del) c.*594del (n.*594del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029702C>A | CA873290949 | MECP2 | c.*665G>T (n.*665G>T) c.*592G>T (n.*592G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029702C= | CA2466569602 | MECP2 | c.*665G= (n.*665G=) c.*592G= (n.*592G=) | |
| X | g.154029702C>G | CA873290952 | MECP2 | c.*665G>C (n.*665G>C) c.*592G>C (n.*592G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029703C>A | CA337261038 | MECP2 | c.*664G>T (n.*664G>T) c.*591G>T (n.*591G>T) | dbSNP gnomAD v4 |
| X | g.154029703C= | CA2466569603 | MECP2 | c.*664G= (n.*664G=) c.*591G= (n.*591G=) | |
| X | g.154029704C>A | CA2466569605 | MECP2 | c.*663G>T (n.*663G>T) c.*590G>T (n.*590G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029704C= | CA2466569604 | MECP2 | c.*663G= (n.*663G=) c.*590G= (n.*590G=) | |
| X | g.154029704C>G | CA1138553500 | MECP2 | c.*663G>C (n.*663G>C) c.*590G>C (n.*590G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029704C>T | CA645169040 | MECP2 | c.*663G>A (n.*663G>A) c.*590G>A (n.*590G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029705C>A | CA2466569607 | MECP2 | c.*662G>T (n.*662G>T) c.*589G>T (n.*589G>T) | dbSNP gnomAD v4 |
| X | g.154029705C= | CA2466569606 | MECP2 | c.*662G= (n.*662G=) c.*589G= (n.*589G=) | |
| X | g.154029705C>G | CA645169041 | MECP2 | c.*662G>C (n.*662G>C) c.*589G>C (n.*589G>C) | dbSNP gnomAD v2 |
| X | g.154029705_154029706delinsCT | CA2466569608 | MECP2 | c.*661_*662delinsAG (n.*661_*662delinsAG) c.*588_*589delinsAG (n.*588_*589delinsAG) | |
| X | g.154029706del | CA2466569609 | MECP2 | c.*661del (n.*661del) c.*588del (n.*588del) | dbSNP |
| X | g.154029706T>C | CA2695098385 | MECP2 | c.*661A>G (n.*661A>G) c.*588A>G (n.*588A>G) | gnomAD v4 |
| X | g.154029707C>A | CA337261050 | MECP2 | c.*660G>T (n.*660G>T) c.*587G>T (n.*587G>T) | dbSNP gnomAD v4 |
| X | g.154029707C= | CA2466569610 | MECP2 | c.*660G= (n.*660G=) c.*587G= (n.*587G=) | |
| X | g.154029707C>G | CA873290960 | MECP2 | c.*660G>C (n.*660G>C) c.*587G>C (n.*587G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029707C>T | CA2466569611 | MECP2 | c.*660G>A (n.*660G>A) c.*587G>A (n.*587G>A) | dbSNP |
| X | g.154029708C>A | CA873290964 | MECP2 | c.*659G>T (n.*659G>T) c.*586G>T (n.*586G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029708C= | CA2466569612 | MECP2 | c.*659G= (n.*659G=) c.*586G= (n.*586G=) | |
| X | g.154029708C>G | CA645169042 | MECP2 | c.*659G>C (n.*659G>C) c.*586G>C (n.*586G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029708C>T | CA1138553502 | MECP2 | c.*659G>A (n.*659G>A) c.*586G>A (n.*586G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029710del | CA2695098399 | MECP2 | c.*657del (n.*657del) c.*584del (n.*584del) | gnomAD v4 |
| X | g.154029710A= | CA2466569613 | MECP2 | c.*657T= (n.*657T=) c.*584T= (n.*584T=) | |
| X | g.154029710A>C | CA2695098397 | MECP2 | c.*657T>G (n.*657T>G) c.*584T>G (n.*584T>G) | gnomAD v4 |
| X | g.154029710A>G | CA2466569614 | MECP2 | c.*657T>C (n.*657T>C) c.*584T>C (n.*584T>C) | dbSNP |
| X | g.154029711G>A | CA2466569616 | MECP2 | c.*656C>T (n.*656C>T) c.*583C>T (n.*583C>T) | dbSNP gnomAD v4 |
| X | g.154029711G= | CA2466569615 | MECP2 | c.*656C= (n.*656C=) c.*583C= (n.*583C=) | |
| X | g.154029711G>T | CA2695098403 | MECP2 | c.*656C>A (n.*656C>A) c.*583C>A (n.*583C>A) | gnomAD v4 |
| X | g.154029712C>A | CA1138553503 | MECP2 | c.*655G>T (n.*655G>T) c.*582G>T (n.*582G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029712C= | CA2466569617 | MECP2 | c.*655G= (n.*655G=) c.*582G= (n.*582G=) | |
| X | g.154029712C>G | CA337261054 | MECP2 | c.*655G>C (n.*655G>C) c.*582G>C (n.*582G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029712C>T | CA873290967 | MECP2 | c.*655G>A (n.*655G>A) c.*582G>A (n.*582G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029713C>A | CA2695098411 | MECP2 | c.*654G>T (n.*654G>T) c.*581G>T (n.*581G>T) | gnomAD v4 |
| X | g.154029713C= | CA2466569618 | MECP2 | c.*654G= (n.*654G=) c.*581G= (n.*581G=) | |
| X | g.154029713C>T | CA1138553504 | MECP2 | c.*654G>A (n.*654G>A) c.*581G>A (n.*581G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029713_154029714insCGTCTCCCGGGTCTTGCGCTTCTTG | CA2695098414 | MECP2 | c.*653_*654insCAAGAAGCGCAAGACCCGGGAGACG (n.*653_*654insCAAGAAGCGCAAGACCCGGGAGACG) c.*580_*581insCAAGAAGCGCAAGACCCGGGAGACG (n.*580_*581insCAAGAAGCGCAAGACCCGGGAGACG) | gnomAD v4 |
| X | g.154029714A>G | CA2695098415 | MECP2 | c.*653T>C (n.*653T>C) c.*580T>C (n.*580T>C) | dbSNP gnomAD v4 |
| X | g.154029715T>C | CA2466569620 | MECP2 | c.*652A>G (n.*652A>G) c.*579A>G (n.*579A>G) | dbSNP |
| X | g.154029715T>G | CA2602677300 | MECP2 | c.*652A>C (n.*652A>C) c.*579A>C (n.*579A>C) | gnomAD v3 gnomAD v4 |
| X | g.154029715T= | CA2466569619 | MECP2 | c.*652A= (n.*652A=) c.*579A= (n.*579A=) | |
| X | g.154029716G>C | CA2695098418 | MECP2 | c.*651C>G (n.*651C>G) c.*578C>G (n.*578C>G) | gnomAD v4 |
| X | g.154029716G>T | CA2695098419 | MECP2 | c.*651C>A (n.*651C>A) c.*578C>A (n.*578C>A) | gnomAD v4 |
| X | g.154029716_154029717insGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGG | CA2695098417 | MECP2 | c.*651_*652insCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCC (n.*651_*652insCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCC) c.*578_*579insCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCC (n.*578_*579insCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCC) | gnomAD v4 |
| X | g.154029717C>A | CA2695098422 | MECP2 | c.*650G>T (n.*650G>T) c.*577G>T (n.*577G>T) | gnomAD v4 |
| X | g.154029717C= | CA2466569621 | MECP2 | c.*650G= (n.*650G=) c.*577G= (n.*577G=) | |
| X | g.154029717C>G | CA1138553505 | MECP2 | c.*650G>C (n.*650G>C) c.*577G>C (n.*577G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029717C>T | CA873290972 | MECP2 | c.*650G>A (n.*650G>A) c.*577G>A (n.*577G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029718C>A | CA2695098424 | MECP2 | c.*649G>T (n.*649G>T) c.*576G>T (n.*576G>T) | gnomAD v4 |
| X | g.154029718C= | CA2466569622 | MECP2 | c.*649G= (n.*649G=) c.*576G= (n.*576G=) | |
| X | g.154029718C>G | CA2466569623 | MECP2 | c.*649G>C (n.*649G>C) c.*576G>C (n.*576G>C) | dbSNP |
| X | g.154029718C>T | CA873290974 | MECP2 | c.*649G>A (n.*649G>A) c.*576G>A (n.*576G>A) | dbSNP |
| X | g.154029719A= | CA2466569624 | MECP2 | c.*648T= (n.*648T=) c.*575T= (n.*575T=) | |
| X | g.154029719A>G | CA2466569625 | MECP2 | c.*648T>C (n.*648T>C) c.*575T>C (n.*575T>C) | dbSNP |
| X | g.154029721A= | CA2466569626 | MECP2 | c.*646T= (n.*646T=) c.*573T= (n.*573T=) | |
| X | g.154029721A>C | CA2466569627 | MECP2 | c.*646T>G (n.*646T>G) c.*573T>G (n.*573T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029723C>A | CA2695098427 | MECP2 | c.*644G>T (n.*644G>T) c.*571G>T (n.*571G>T) | gnomAD v4 |
| X | g.154029723C= | CA2466569628 | MECP2 | c.*644G= (n.*644G=) c.*571G= (n.*571G=) | |
| X | g.154029723C>G | CA2466569629 | MECP2 | c.*644G>C (n.*644G>C) c.*571G>C (n.*571G>C) | dbSNP gnomAD v4 |
| X | g.154029725G>A | CA2695098428 | MECP2 | c.*642C>T (n.*642C>T) c.*569C>T (n.*569C>T) | gnomAD v4 |
| X | g.154029727A>G | CA2695098429 | MECP2 | c.*640T>C (n.*640T>C) c.*567T>C (n.*567T>C) | gnomAD v4 |
| X | g.154029728G>C | CA645169043 | MECP2 | c.*639C>G (n.*639C>G) c.*566C>G (n.*566C>G) | dbSNP gnomAD v2 |
| X | g.154029728G= | CA2466569630 | MECP2 | c.*639C= (n.*639C=) c.*566C= (n.*566C=) | |
| X | g.154029728G>T | CA2695098430 | MECP2 | c.*639C>A (n.*639C>A) c.*566C>A (n.*566C>A) | gnomAD v4 |
| X | g.154029729C>A | CA873290976 | MECP2 | c.*638G>T (n.*638G>T) c.*565G>T (n.*565G>T) | dbSNP |
| X | g.154029729C= | CA2466569631 | MECP2 | c.*638G= (n.*638G=) c.*565G= (n.*565G=) | |
| X | g.154029729C>T | CA2695098431 | MECP2 | c.*638G>A (n.*638G>A) c.*565G>A (n.*565G>A) | gnomAD v4 |
| X | g.154029730A= | CA2466569632 | MECP2 | c.*637T= (n.*637T=) c.*564T= (n.*564T=) | |
| X | g.154029730A>G | CA337261056 | MECP2 | c.*637T>C (n.*637T>C) c.*564T>C (n.*564T>C) | dbSNP gnomAD v4 |
| X | g.154029730A>T | CA2695098433 | MECP2 | c.*637T>A (n.*637T>A) c.*564T>A (n.*564T>A) | gnomAD v4 |
| X | g.154029731G>T | CA2695098436 | MECP2 | c.*636C>A (n.*636C>A) c.*563C>A (n.*563C>A) | gnomAD v4 |
| X | g.154029732A= | CA2466569633 | MECP2 | c.*635T= (n.*635T=) c.*562T= (n.*562T=) | |
| X | g.154029732A>G | CA873290977 | MECP2 | c.*635T>C (n.*635T>C) c.*562T>C (n.*562T>C) | dbSNP |
| X | g.154029733C>A | CA873290978 | MECP2 | c.*634G>T (n.*634G>T) c.*561G>T (n.*561G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029733C= | CA2466569634 | MECP2 | c.*634G= (n.*634G=) c.*561G= (n.*561G=) | |
| X | g.154029733C>G | CA337261062 | MECP2 | c.*634G>C (n.*634G>C) c.*561G>C (n.*561G>C) | dbSNP gnomAD v4 |
| X | g.154029734A>C | CA2695098442 | MECP2 | c.*633T>G (n.*633T>G) c.*560T>G (n.*560T>G) | gnomAD v4 |
| X | g.154029734A>G | CA2695098443 | MECP2 | c.*633T>C (n.*633T>C) c.*560T>C (n.*560T>C) | gnomAD v4 |
| X | g.154029735G>C | CA873290982 | MECP2 | c.*632C>G (n.*632C>G) c.*559C>G (n.*559C>G) | dbSNP |
| X | g.154029735G= | CA2466569635 | MECP2 | c.*632C= (n.*632C=) c.*559C= (n.*559C=) | |
| X | g.154029735G>T | CA2695098445 | MECP2 | c.*632C>A (n.*632C>A) c.*559C>A (n.*559C>A) | gnomAD v4 |
| X | g.154029736G>A | CA2466569637 | MECP2 | c.*631C>T (n.*631C>T) c.*558C>T (n.*558C>T) | dbSNP gnomAD v4 |
| X | g.154029736G= | CA2466569636 | MECP2 | c.*631C= (n.*631C=) c.*558C= (n.*558C=) | |
| X | g.154029736G>T | CA2695098448 | MECP2 | c.*631C>A (n.*631C>A) c.*558C>A (n.*558C>A) | gnomAD v4 |
| X | g.154029737T>C | CA2695098449 | MECP2 | c.*630A>G (n.*630A>G) c.*557A>G (n.*557A>G) | gnomAD v4 |
| X | g.154029738G>A | CA873290987 | MECP2 | c.*629C>T (n.*629C>T) c.*556C>T (n.*556C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029738G>C | CA2695098450 | MECP2 | c.*629C>G (n.*629C>G) c.*556C>G (n.*556C>G) | gnomAD v4 |
| X | g.154029738G= | CA2466569638 | MECP2 | c.*629C= (n.*629C=) c.*556C= (n.*556C=) | |
| X | g.154029739C>A | CA2466569640 | MECP2 | c.*628G>T (n.*628G>T) c.*555G>T (n.*555G>T) | dbSNP gnomAD v4 |
| X | g.154029739C= | CA2466569639 | MECP2 | c.*628G= (n.*628G=) c.*555G= (n.*555G=) | |
| X | g.154029739C>T | CA2695098452 | MECP2 | c.*628G>A (n.*628G>A) c.*555G>A (n.*555G>A) | gnomAD v4 |
| X | g.154029740C>A | CA2695098453 | MECP2 | c.*627G>T (n.*627G>T) c.*554G>T (n.*554G>T) | gnomAD v4 |
| X | g.154029740C= | CA2466569641 | MECP2 | c.*627G= (n.*627G=) c.*554G= (n.*554G=) | |
| X | g.154029740C>G | CA2466569642 | MECP2 | c.*627G>C (n.*627G>C) c.*554G>C (n.*554G>C) | dbSNP gnomAD v4 |
| X | g.154029740C>T | CA337261069 | MECP2 | c.*627G>A (n.*627G>A) c.*554G>A (n.*554G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029741A= | CA2466569643 | MECP2 | c.*626T= (n.*626T=) c.*553T= (n.*553T=) | |
| X | g.154029741A>C | CA1138553507 | MECP2 | c.*626T>G (n.*626T>G) c.*553T>G (n.*553T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029741A>G | CA1138553508 | MECP2 | c.*626T>C (n.*626T>C) c.*553T>C (n.*553T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029742C>A | CA873290993 | MECP2 | c.*625G>T (n.*625G>T) c.*552G>T (n.*552G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029742C= | CA2466569644 | MECP2 | c.*625G= (n.*625G=) c.*552G= (n.*552G=) | |
| X | g.154029742C>G | CA337261071 | MECP2 | c.*625G>C (n.*625G>C) c.*552G>C (n.*552G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029743T>C | CA873290997 | MECP2 | c.*624A>G (n.*624A>G) c.*551A>G (n.*551A>G) | dbSNP |
| X | g.154029743T= | CA2466569645 | MECP2 | c.*624A= (n.*624A=) c.*551A= (n.*551A=) | |
| X | g.154029745del | CA2695098461 | MECP2 | c.*624del (n.*624del) c.*551del (n.*551del) | gnomAD v4 |
| X | g.154029744T>C | CA2695098462 | MECP2 | c.*623A>G (n.*623A>G) c.*550A>G (n.*550A>G) | gnomAD v4 |
| X | g.154029744T>G | CA2824280995 | MECP2 | c.*623A>C (n.*623A>C) c.*550A>C (n.*550A>C) | |
| X | g.154029746C>A | CA2466569647 | MECP2 | c.*621G>T (n.*621G>T) c.*548G>T (n.*548G>T) | dbSNP |
| X | g.154029746C= | CA2466569646 | MECP2 | c.*621G= (n.*621G=) c.*548G= (n.*548G=) | |
| X | g.154029746C>G | CA337261077 | MECP2 | c.*621G>C (n.*621G>C) c.*548G>C (n.*548G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029747C>A | CA2695098463 | MECP2 | c.*620G>T (n.*620G>T) c.*547G>T (n.*547G>T) | gnomAD v4 |
| X | g.154029747C= | CA2466569648 | MECP2 | c.*620G= (n.*620G=) c.*547G= (n.*547G=) | |
| X | g.154029747C>G | CA2549036803 | MECP2 | c.*620G>C (n.*620G>C) c.*547G>C (n.*547G>C) | |
| X | g.154029747C>T | CA873291006 | MECP2 | c.*620G>A (n.*620G>A) c.*547G>A (n.*547G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029748T>C | CA2695098465 | MECP2 | c.*619A>G (n.*619A>G) c.*546A>G (n.*546A>G) | gnomAD v4 |
| X | g.154029749G>T | CA2695098466 | MECP2 | c.*618C>A (n.*618C>A) c.*545C>A (n.*545C>A) | gnomAD v4 |
| X | g.154029750T>C | CA2695098467 | MECP2 | c.*617A>G (n.*617A>G) c.*544A>G (n.*544A>G) | gnomAD v4 |
| X | g.154029751C= | CA2466569649 | MECP2 | c.*616G= (n.*616G=) c.*543G= (n.*543G=) | |
| X | g.154029751C>G | CA873291012 | MECP2 | c.*616G>C (n.*616G>C) c.*543G>C (n.*543G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029751C>T | CA1138553509 | MECP2 | c.*616G>A (n.*616G>A) c.*543G>A (n.*543G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029752C>A | CA2695098468 | MECP2 | c.*615G>T (n.*615G>T) c.*542G>T (n.*542G>T) | gnomAD v4 |
| X | g.154029752C= | CA2466569650 | MECP2 | c.*615G= (n.*615G=) c.*542G= (n.*542G=) | |
| X | g.154029752C>G | CA1138553510 | MECP2 | c.*615G>C (n.*615G>C) c.*542G>C (n.*542G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029752C>T | CA873291014 | MECP2 | c.*615G>A (n.*615G>A) c.*542G>A (n.*542G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029753T>C | CA2695098469 | MECP2 | c.*614A>G (n.*614A>G) c.*541A>G (n.*541A>G) | gnomAD v4 |
| X | g.154029754G>A | CA1138553511 | MECP2 | c.*613C>T (n.*613C>T) c.*540C>T (n.*540C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029754G= | CA2466569651 | MECP2 | c.*613C= (n.*613C=) c.*540C= (n.*540C=) | |
| X | g.154029755T>G | CA2695098470 | MECP2 | c.*612A>C (n.*612A>C) c.*539A>C (n.*539A>C) | gnomAD v4 |
| X | g.154029756G>C | CA2695098471 | MECP2 | c.*611C>G (n.*611C>G) c.*538C>G (n.*538C>G) | gnomAD v4 |
| X | g.154029756G>T | CA2695098472 | MECP2 | c.*611C>A (n.*611C>A) c.*538C>A (n.*538C>A) | gnomAD v4 |
| X | g.154029758A= | CA2466569652 | MECP2 | c.*609T= (n.*609T=) c.*536T= (n.*536T=) | |
| X | g.154029758A>C | CA2695098473 | MECP2 | c.*609T>G (n.*609T>G) c.*536T>G (n.*536T>G) | gnomAD v4 |
| X | g.154029758A>G | CA873291015 | MECP2 | c.*609T>C (n.*609T>C) c.*536T>C (n.*536T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029759G>T | CA2695098474 | MECP2 | c.*608C>A (n.*608C>A) c.*535C>A (n.*535C>A) | gnomAD v4 |
| X | g.154029760C>A | CA2695098475 | MECP2 | c.*607G>T (n.*607G>T) c.*534G>T (n.*534G>T) | gnomAD v4 |
| X | g.154029760C= | CA2466569653 | MECP2 | c.*607G= (n.*607G=) c.*534G= (n.*534G=) | |
| X | g.154029760C>T | CA337261080 | MECP2 | c.*607G>A (n.*607G>A) c.*534G>A (n.*534G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029761G>A | CA873291019 | MECP2 | c.*606C>T (n.*606C>T) c.*533C>T (n.*533C>T) | dbSNP gnomAD v4 |
| X | g.154029761G= | CA2466569654 | MECP2 | c.*606C= (n.*606C=) c.*533C= (n.*533C=) | |
| X | g.154029761G>T | CA2695098476 | MECP2 | c.*606C>A (n.*606C>A) c.*533C>A (n.*533C>A) | gnomAD v4 |
| X | g.154029762T>G | CA2695098477 | MECP2 | c.*605A>C (n.*605A>C) c.*532A>C (n.*532A>C) | gnomAD v4 |
| X | g.154029763C>A | CA873291021 | MECP2 | c.*604G>T (n.*604G>T) c.*531G>T (n.*531G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029763C= | CA2466569655 | MECP2 | c.*604G= (n.*604G=) c.*531G= (n.*531G=) | |
| X | g.154029763C>G | CA2695098479 | MECP2 | c.*604G>C (n.*604G>C) c.*531G>C (n.*531G>C) | gnomAD v4 |
| X | g.154029763C>T | CA2695098478 | MECP2 | c.*604G>A (n.*604G>A) c.*531G>A (n.*531G>A) | gnomAD v4 |
| X | g.154029764C>A | CA645169044 | MECP2 | c.*603G>T (n.*603G>T) c.*530G>T (n.*530G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029764C= | CA2466569656 | MECP2 | c.*603G= (n.*603G=) c.*530G= (n.*530G=) | |
| X | g.154029764C>G | CA645169045 | MECP2 | c.*603G>C (n.*603G>C) c.*530G>C (n.*530G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029764C>T | CA2695098480 | MECP2 | c.*603G>A (n.*603G>A) c.*530G>A (n.*530G>A) | gnomAD v4 |
| X | g.154029767G>A | CA2695098481 | MECP2 | c.*600C>T (n.*600C>T) c.*527C>T (n.*527C>T) | gnomAD v4 |
| X | g.154029767G>T | CA2695098482 | MECP2 | c.*600C>A (n.*600C>A) c.*527C>A (n.*527C>A) | gnomAD v4 |
| X | g.154029768C>T | CA2695098483 | MECP2 | c.*599G>A (n.*599G>A) c.*526G>A (n.*526G>A) | gnomAD v4 |
| X | g.154029769del | CA2561802583 | MECP2 | c.*599del (n.*599del) c.*526del (n.*526del) | |
| X | g.154029769C>A | CA2695098484 | MECP2 | c.*598G>T (n.*598G>T) c.*525G>T (n.*525G>T) | gnomAD v4 |
| X | g.154029769C>T | CA2695098485 | MECP2 | c.*598G>A (n.*598G>A) c.*525G>A (n.*525G>A) | gnomAD v4 |
| X | g.154029770A>C | CA2695098486 | MECP2 | c.*597T>G (n.*597T>G) c.*524T>G (n.*524T>G) | gnomAD v4 |
| X | g.154029771G>A | CA2695098487 | MECP2 | c.*596C>T (n.*596C>T) c.*523C>T (n.*523C>T) | gnomAD v4 |
| X | g.154029771G= | CA2466569657 | MECP2 | c.*596C= (n.*596C=) c.*523C= (n.*523C=) | |
| X | g.154029771G>T | CA2695098488 | MECP2 | c.*596C>A (n.*596C>A) c.*523C>A (n.*523C>A) | gnomAD v4 |
| X | g.154029772T>G | CA2695098489 | MECP2 | c.*595A>C (n.*595A>C) c.*522A>C (n.*522A>C) | gnomAD v4 |
| X | g.154029775dup | CA1138553513 | MECP2 | c.*595dup (n.*595dup) c.*522dup (n.*522dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029773T>G | CA2695098490 | MECP2 | c.*594A>C (n.*594A>C) c.*521A>C (n.*521A>C) | gnomAD v4 |
| X | g.154029775T>C | CA2695098491 | MECP2 | c.*592A>G (n.*592A>G) c.*519A>G (n.*519A>G) | gnomAD v4 |
| X | g.154029776G>C | CA1138553514 | MECP2 | c.*591C>G (n.*591C>G) c.*518C>G (n.*518C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029776G= | CA2466569658 | MECP2 | c.*591C= (n.*591C=) c.*518C= (n.*518C=) | |
| X | g.154029776G>T | CA2824280996 | MECP2 | c.*591C>A (n.*591C>A) c.*518C>A (n.*518C>A) | |
| X | g.154029778A= | CA2466569659 | MECP2 | c.*589T= (n.*589T=) c.*516T= (n.*516T=) | |
| X | g.154029778A>G | CA645169046 | MECP2 | c.*589T>C (n.*589T>C) c.*516T>C (n.*516T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029778A>T | CA2695098492 | MECP2 | c.*589T>A (n.*589T>A) c.*516T>A (n.*516T>A) | gnomAD v4 |
| X | g.154029779T>G | CA2466569661 | MECP2 | c.*588A>C (n.*588A>C) c.*515A>C (n.*515A>C) | dbSNP gnomAD v4 |
| X | g.154029779T= | CA2466569660 | MECP2 | c.*588A= (n.*588A=) c.*515A= (n.*515A=) | |
| X | g.154029781G>A | CA337261093 | MECP2 | c.*586C>T (n.*586C>T) c.*513C>T (n.*513C>T) | dbSNP gnomAD v4 |
| X | g.154029781G>C | CA2695098493 | MECP2 | c.*586C>G (n.*586C>G) c.*513C>G (n.*513C>G) | gnomAD v4 |
| X | g.154029781G= | CA2466569662 | MECP2 | c.*586C= (n.*586C=) c.*513C= (n.*513C=) | |
| X | g.154029781G>T | CA2695098494 | MECP2 | c.*586C>A (n.*586C>A) c.*513C>A (n.*513C>A) | gnomAD v4 |
| X | g.154029791_154030631del | CA2697544637 | MECP2 | c.1207_*586del (n.[c.1207_*586del;Pro403AsnfsTer?]) c.1243_*586del (n.[c.1243_*586del;Pro415AsnfsTer?]) c.1207_*513del c.928_*586del (n.[c.928_*586del;Pro310AsnfsTer?]) c.538_*586del (n.[c.538_*586del;Pro180AsnfsTer?]) | ClinVar |
| X | g.154029782G>A | CA1138553516 | MECP2 | c.*585C>T (n.*585C>T) c.*512C>T (n.*512C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029782G>C | CA2466569664 | MECP2 | c.*585C>G (n.*585C>G) c.*512C>G (n.*512C>G) | dbSNP |
| X | g.154029782G= | CA2466569665 | MECP2 | c.*585C= (n.*585C=) c.*512C= (n.*512C=) | |
| X | g.154029782G>T | CA2466569663 | MECP2 | c.*585C>A (n.*585C>A) c.*512C>A (n.*512C>A) | dbSNP gnomAD v4 |
| X | g.154029784G>A | CA2695098495 | MECP2 | c.*583C>T (n.*583C>T) c.*510C>T (n.*510C>T) | gnomAD v4 |
| X | g.154029784G>T | CA2695098496 | MECP2 | c.*583C>A (n.*583C>A) c.*510C>A (n.*510C>A) | gnomAD v4 |
| X | g.154029785C>A | CA2695098497 | MECP2 | c.*582G>T (n.*582G>T) c.*509G>T (n.*509G>T) | gnomAD v4 |
| X | g.154029787G>A | CA2521019844 | MECP2 | c.*580C>T (n.*580C>T) c.*507C>T (n.*507C>T) | gnomAD v4 |
| X | g.154029787G>C | CA873291026 | MECP2 | c.*580C>G (n.*580C>G) c.*507C>G (n.*507C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029787G= | CA2466569666 | MECP2 | c.*580C= (n.*580C=) c.*507C= (n.*507C=) | |
| X | g.154029787G>T | CA2695098498 | MECP2 | c.*580C>A (n.*580C>A) c.*507C>A (n.*507C>A) | gnomAD v4 |
| X | g.154029788G= | CA2466569668 | MECP2 | c.*579C= (n.*579C=) c.*506C= (n.*506C=) | |
| X | g.154029788G>T | CA2466569667 | MECP2 | c.*579C>A (n.*579C>A) c.*506C>A (n.*506C>A) | dbSNP |
| X | g.154029790_154029791insGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGG | CA2695098499 | MECP2 | c.*577_*578insCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC (n.*577_*578insCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) c.*504_*505insCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC (n.*504_*505insCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) | gnomAD v4 |
| X | g.154029791T>G | CA2695098500 | MECP2 | c.*576A>C (n.*576A>C) c.*503A>C (n.*503A>C) | gnomAD v4 |
| X | g.154029792G>A | CA2466569670 | MECP2 | c.*575C>T (n.*575C>T) c.*502C>T (n.*502C>T) | dbSNP gnomAD v4 |
| X | g.154029792G= | CA2466569669 | MECP2 | c.*575C= (n.*575C=) c.*502C= (n.*502C=) | |
| X | g.154029793G= | CA2466569671 | MECP2 | c.*574C= (n.*574C=) c.*501C= (n.*501C=) | |
| X | g.154029793G>T | CA2466569672 | MECP2 | c.*574C>A (n.*574C>A) c.*501C>A (n.*501C>A) | dbSNP gnomAD v4 |
| X | g.154029793_154029794insTCCTC | CA2695098501 | MECP2 | c.*573_*574insGAGGA (n.*573_*574insGAGGA) c.*500_*501insGAGGA (n.*500_*501insGAGGA) | gnomAD v4 |
| X | g.154029794G>A | CA2695098502 | MECP2 | c.*573C>T (n.*573C>T) c.*500C>T (n.*500C>T) | gnomAD v4 |
| X | g.154029794G>C | CA873291027 | MECP2 | c.*573C>G (n.*573C>G) c.*500C>G (n.*500C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029794G= | CA2466569673 | MECP2 | c.*573C= (n.*573C=) c.*500C= (n.*500C=) | |
| X | g.154029794G>T | CA2695098503 | MECP2 | c.*573C>A (n.*573C>A) c.*500C>A (n.*500C>A) | gnomAD v4 |
| X | g.154029795G>A | CA2695098504 | MECP2 | c.*572C>T (n.*572C>T) c.*499C>T (n.*499C>T) | gnomAD v4 |
| X | g.154029795G>T | CA2695098505 | MECP2 | c.*572C>A (n.*572C>A) c.*499C>A (n.*499C>A) | gnomAD v4 |
| X | g.154029796C>A | CA2695098506 | MECP2 | c.*571G>T (n.*571G>T) c.*498G>T (n.*498G>T) | gnomAD v4 |
| X | g.154029797del | CA2524576808 | MECP2 | c.*571del (n.*571del) c.*498del (n.*498del) | gnomAD v4 |
| X | g.154029797C>A | CA2695098507 | MECP2 | c.*570G>T (n.*570G>T) c.*497G>T (n.*497G>T) | gnomAD v4 |
| X | g.154029797C>T | CA2695098508 | MECP2 | c.*570G>A (n.*570G>A) c.*497G>A (n.*497G>A) | gnomAD v4 |
| X | g.154029798A= | CA2466569674 | MECP2 | c.*569T= (n.*569T=) c.*496T= (n.*496T=) | |
| X | g.154029798A>C | CA337261101 | MECP2 | c.*569T>G (n.*569T>G) c.*496T>G (n.*496T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029798A>G | CA2695098509 | MECP2 | c.*569T>C (n.*569T>C) c.*496T>C (n.*496T>C) | gnomAD v4 |
| X | g.154029798_154030699delinsAGACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTT | CA2466569675 | MECP2 | c.1129_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT (n.[c.1129_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT;Lys377=]) c.1165_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT (n.[c.1165_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT;Lys389=]) c.1129_*496delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT c.850_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT (n.[c.850_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT;Lys284=]) c.460_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT (n.[c.460_*569delinsAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCCACCAGCCCCCCTGAGCCCCAGGACTTGAGCAGCAGCGTCTGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACTGGAGAGCGACGGCTGCCCCAAGGAGCCAGCTAAGACTCAGCCCGCGGTTGCCACCGCCGCCACGGCCGCAGAAAAGTACAAACACCGAGGGGAGGGAGAGCGCAAAGACATTGTTTCATCCTCCATGCCAAGGCCAAACAGAGAGGAGCCTGTGGACAGCCGGACGCCCGTGACCGAGAGAGTTAGCTGACTTTACACGGAGCGGATTGCAAAGCAAACCAACAAGAATAAAGGCAGCTGTTGTCTCTTCTCCTTATGGGTAGGGCTCTGACAAAGCTTCCCGATTAACTGAAATAAAAAATATTTTTTTTTCTTTCAGTAAACTTAGAGTTTCGTGGCTTCAGGGTGGGAGTAGTTGGAGCATTGGGGATGTTTTTCTTACCGACAAGCACAGTCAGGTTGAAGACCTAACCAGGGCCAGAAGTAGCTTTGCACTTTTCTAAACTAGGCTCCTTCAACAAGGCTTGCTGCAGATACTACTGACCAGACAAGCTGTTGACCAGGCACCTCCCCTCCCGCCCAAACCTTTCCCCCATGTGGTCGTTAGAGACAGAGCGACAGAGCAGTTGAGAGGACACTCCCGTTTTCGGTGCCATCAGTGCCCCGTCTACAGCTCCCCCAGCTCCCCCCACCTCCCCCACTCCCAACCACGTTGGGACAGGGAGGTGTGAGGCAGGAGAGACAGTTGGATTCTTTAGAGAAGATGGATATGACCAGTGGCTATGGCCTGTGCGATCCCACCCGTGGTGGCTCAAGTCT;Lys154=]) | |
| X | g.154029799G>C | CA2695098511 | MECP2 | c.*568C>G (n.*568C>G) c.*495C>G (n.*495C>G) | gnomAD v4 |
| X | g.154029799G>T | CA2695098510 | MECP2 | c.*568C>A (n.*568C>A) c.*495C>A (n.*495C>A) | gnomAD v4 |
| X | g.154029799_154030699delinsCCACGG | CA274564 | MECP2 | c.1129_*568delinsCCGTGG (n.[c.1129_*568delinsCCGTGG;Lys377ProfsTer?]) c.1165_*568delinsCCGTGG (n.[c.1165_*568delinsCCGTGG;Lys389ProfsTer?]) c.1129_*495delinsCCGTGG c.850_*568delinsCCGTGG (n.[c.850_*568delinsCCGTGG;Lys284ProfsTer?]) c.460_*568delinsCCGTGG (n.[c.460_*568delinsCCGTGG;Lys154ProfsTer?]) | ClinVar dbSNP |
| X | g.154029800A>C | CA2695098512 | MECP2 | c.*567T>G (n.*567T>G) c.*494T>G (n.*494T>G) | gnomAD v4 |
| X | g.154029800A>G | CA2695098513 | MECP2 | c.*567T>C (n.*567T>C) c.*494T>C (n.*494T>C) | gnomAD v4 |
| X | g.154029800A>T | CA2824280997 | MECP2 | c.*567T>A (n.*567T>A) c.*494T>A (n.*494T>A) | |
| X | g.154029801C>A | CA2695098514 | MECP2 | c.*566G>T (n.*566G>T) c.*493G>T (n.*493G>T) | gnomAD v4 |
| X | g.154029801C= | CA2466569676 | MECP2 | c.*566G= (n.*566G=) c.*493G= (n.*493G=) | |
| X | g.154029801C>G | CA415161337 | MECP2 | c.*566G>C (n.*566G>C) c.*493G>C (n.*493G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154029801C>T | CA873291032 | MECP2 | c.*566G>A (n.*566G>A) c.*493G>A (n.*493G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154029802T>C | CA873291033 | MECP2 | c.*565A>G (n.*565A>G) c.*492A>G (n.*492A>G) | dbSNP |
| X | g.154029802T>G | CA2466569678 | MECP2 | c.*565A>C (n.*565A>C) c.*492A>C (n.*492A>C) | dbSNP |
| X | g.154029802T= | CA2466569677 | MECP2 | c.*565A= (n.*565A=) c.*492A= (n.*492A=) |