Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.154030546_154032241delCA2695202122MECP2c.343_1282del
c.379_1318del
c.343_*654del
c.64_1003del
c.-218_613del
Xg.154030587_154034485delCA1139667874MECP2c.27-1928_1241del
c.63-1928_1277del
c.27-1928_*613del
c.-253-1928_962del
c.-534-1928_572del
ClinVar
Xg.154030593_154038357delCA2499226465MECP2c.27-5800_1235del
c.63-5800_1271del
c.27-5800_*607del
c.-253-5800_956del
c.-254+1435_956del
c.-535+1435_566del
c.-534-5800_566del
ClinVar
Xg.154030617_154032283delCA2573159384MECP2c.301_1211del
c.337_1247del
c.337_*583del
c.301_*583del
c.22_932del
c.-260_542del
ClinVar
Xg.154030623_154032653delCA274584MECP2c.27-94_1207del
c.63-94_1243del
c.63-94_*579del
c.27-94_*579del
c.-253-94_928del
c.-534-94_538del
ClinVar
Xg.154030638_154038772delCA274583MECP2c.27-6214_1191del
c.63-6214_1227del
c.63-6214_*563del
c.27-6214_*563del
c.-253-6214_912del
c.-254+1021_912del
c.-535+1021_522del
c.-534-6214_522del
ClinVar
Xg.154030638_154031340delinsTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGCGAAGTTTGAAAAGGCATCTTGACAAGGAGCTTCCCAGGACTTTTCTCCAGGACCCTTTTCACCTGCACACCCTCTGACGTGGCCGCCTTGGGTCTCGTGGTGCCGCTCCCTTTGGGGCGTCCCCGGCCTCTGCCAGTTCCTGGAGCTTTGGGAGATTTGGGCTTCTTAGGTGGTTTCTGCTCTCGCCGGGAGGGGCTCCCA2466570378MECP2c.488_1190delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly163=)
c.524_1226delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly175=)
c.469-54_*562delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA
c.433-54_*562delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA
c.209_911delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA (p.Gly70=)
c.-128-54_521delinsGGAGCCCCTCCCGGCGAGAGCAGAAACCACCTAAGAAGCCCAAATCTCCCAAAGCTCCAGGAACTGGCAGAGGCCGGGGACGCCCCAAAGGGAGCGGCACCACGAGACCCAAGGCGGCCACGTCAGAGGGTGTGCAGGTGAAAAGGGTCCTGGAGAAAAGTCCTGGGAAGCTCCTTGTCAAGATGCCTTTTCAAACTTCGCCAGGGGGCAAGGCTGAGGGGGGTGGGGCCACCACATCCACCCAGGTCATGGTGATCAAACGCCCCGGCAGGAAGCGAAAAGCTGAGGCCGACCCTCAGGCCATTCCCAAGAAACGGGGCCGAAAGCCGGGGAGTGTGGTGGCAGCCGCTGCCGCCGAGGCCAAAAAGAAAGCCGTGAAGGAGTCTTCTATCCGATCTGTGCAGGAGACCGTACTCCCCATCAAGAAGCGCAAGACCCGGGAGACGGTCAGCATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCCTCGGTGAGAAGAGCGGGAAAGGACTGAAGACCTGTAAGAGCCCTGGGCGGAAAAGCAAGGAGAGCAGCCCCAAGGGGCGCAGCAGCAGCGCCTCCTCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGA
Xg.154030638_154038583delinsACCA274582MECP2c.27-6026_1190delinsGT
c.63-6026_1226delinsGT
c.63-6026_*562delinsGT
c.27-6026_*562delinsGT
c.-253-6026_911delinsGT
c.-254+1209_911delinsGT
c.-535+1209_521delinsGT
c.-534-6026_521delinsGT
ClinVar
Xg.154030640_154031341delCA274591MECP2c.488_1189del (p.Gly163_Ser396del)
c.524_1225del (p.Gly175_Ser408del)
c.469-54_*561del
c.433-54_*561del
c.209_910del (p.Gly70_Ser303del)
c.-128-54_520del
ClinVar dbSNP
Xg.154030639_154031446delCA274587MECP2c.382_1189del (p.Gln128ArgfsTer12)
c.418_1225del (p.Gln140ArgfsTer12)
c.418_*561del
c.382_*561del
c.103_910del (p.Gln35ArgfsTer12)
c.-179_520del
ClinVar
Xg.154030646_154036487delCA274579MECP2c.27-3928_1184del
c.63-3928_1220del
c.63-3928_*556del
c.27-3928_*556del
c.-253-3928_905del
c.-254+3307_905del
c.-535+3307_515del
c.-534-3928_515del
ClinVar
Xg.154030646_154032241delCA915952020MECP2c.343_1182del
c.379_1218del
c.379_*554del
c.343_*554del
c.64_903del
c.-218_513del
Xg.154030660_154031387delCA2573334949MECP2c.444_1171del (p.Ser149Ter)
c.480_1207del (p.Ser161Ter)
c.468+12_*543del
c.432+12_*543del
c.165_892del (p.Ser56Ter)
c.-129+12_502del
Xg.154030663_154037047delCA916084238MECP2c.27-4487_1168del
c.63-4487_1204del
c.63-4487_*540del
c.27-4487_*540del
c.-253-4487_889del
c.-254+2748_889del
c.-535+2748_499del
c.-534-4487_499del
ClinVar
Xg.154030665_154031373delinsACGCACA2580101841MECP2c.455_1163delinsTGCGT (p.Pro152LeufsTer6)
c.491_1199delinsTGCGT (p.Pro164LeufsTer6)
c.468+23_*535delinsTGCGT
c.432+23_*535delinsTGCGT
c.176_884delinsTGCGT (p.Pro59LeufsTer6)
c.-129+23_494delinsTGCGT
ClinVar
Xg.154030672_154039641delCA1139667883MECP2c.27-7080_1160del
c.63-7080_1196del
c.63-7080_*532del
c.27-7080_*532del
c.-253-7080_881del
c.-254+155_881del
c.-535+155_491del
c.-534-7080_491del
ClinVar
Xg.154030672_154031421delCA274588MECP2c.409_1158del (p.Glu137_Leu386del)
c.445_1194del (p.Glu149_Leu398del)
c.445_*530del
c.409_*530del
c.130_879del (p.Glu44_Leu293del)
c.-152_489del
ClinVar
Xg.154030690_154038335delCA915952024MECP2c.27-5778_1138del
c.63-5778_1174del
c.63-5778_*510del
c.27-5778_*510del
c.-253-5778_859del
c.-254+1457_859del
c.-535+1457_469del
c.-534-5778_469del
ClinVar
Xg.154030700_154032236delCA915952025MECP2c.348_1128del
c.384_1164del
c.384_*500del
c.348_*500del
c.69_849del
c.-213_459del
Xg.154030753_154031305delinsCGCA198826MECP2c.523_1075delinsCG (p.Lys175ArgfsTer?)
c.559_1111delinsCG (p.Lys187ArgfsTer?)
c.469-19_*447delinsCG
c.433-19_*447delinsCG
c.244_796delinsCG (p.Lys82ArgfsTer?)
c.-128-19_406delinsCG
Xg.154030777_154032630delCA915952026MECP2c.27-73_1051del
c.63-73_1087del
c.63-73_*423del
c.27-73_*423del
c.-253-73_772del
c.-534-73_382del
ClinVar
Xg.154030926_154038331delinsTGACATCAGTCCGGGCACCA274581MECP2c.27-5774_902delinsGTGCCCGGACTGATGTCA
c.63-5774_938delinsGTGCCCGGACTGATGTCA
c.63-5774_*274delinsGTGCCCGGACTGATGTCA
c.15-5774_888delinsGTGCCCGGACTGATGTCA
c.27-5774_*274delinsGTGCCCGGACTGATGTCA
c.-253-5774_623delinsGTGCCCGGACTGATGTCA
c.-254+1461_623delinsGTGCCCGGACTGATGTCA
c.-535+1461_233delinsGTGCCCGGACTGATGTCA
c.-534-5774_233delinsGTGCCCGGACTGATGTCA
ClinVar
Xg.154031200_154031254delCA2697544872MECP2c.580_634del (p.Gly195TrpfsTer?)
c.616_670del (p.Gly207TrpfsTer?)
c.65+148_65+202del
c.507_*6del (n.[c.507_*6del;Ala170ProfsTer23])
c.568_622del (p.Gly191TrpfsTer?)
c.471_*6del (n.[c.471_*6del;Ala158ProfsTer23])
c.301_355del (p.Gly102TrpfsTer?)
c.-90_-36del (n.-90_-36del)
Xg.154031254T>ACA260436MECP2c.574A>T (p.Lys192Ter)
c.610A>T (p.Lys204Ter)
c.65+142A>T
c.501A>T (p.Pro167=)
c.562A>T (p.Lys188Ter)
c.465A>T (p.Pro155=)
c.295A>T (p.Lys99Ter)
c.-96A>T (n.-96A>T)
ClinVar dbSNP
Xg.154031254T>CCA415173368MECP2c.574A>G (p.Lys192Glu)
c.610A>G (p.Lys204Glu)
c.65+142A>G
c.501A>G (p.Pro167=)
c.562A>G (p.Lys188Glu)
c.465A>G (p.Pro155=)
c.295A>G (p.Lys99Glu)
c.-96A>G (n.-96A>G)
Xg.154031254T>GCA415173353MECP2c.574A>C (p.Lys192Gln)
c.610A>C (p.Lys204Gln)
c.65+142A>C
c.501A>C (p.Pro167=)
c.562A>C (p.Lys188Gln)
c.465A>C (p.Pro155=)
c.295A>C (p.Lys99Gln)
c.-96A>C (n.-96A>C)
Xg.154031254T=CA2466570917MECP2c.574A= (p.Lys192=)
c.610A= (p.Lys204=)
c.65+142A=
c.501A= (p.Pro167=)
c.562A= (p.Lys188=)
c.465A= (p.Pro155=)
c.295A= (p.Lys99=)
c.-96A= (n.-96A=)
Xg.154031254_154031255delinsTGCA2466570918MECP2c.573_574delinsCA (p.Pro191=)
c.609_610delinsCA (p.Pro203=)
c.65+141_65+142delinsCA
c.500_501delinsCA (p.Pro167=)
c.561_562delinsCA (p.Pro187=)
c.464_465delinsCA (p.Pro155=)
c.294_295delinsCA (p.Pro98=)
c.-97_-96delinsCA (n.-97_-96delinsCA)
Xg.154031255G>ACA170328MECP2c.573C>T (p.Pro191=)
c.609C>T (p.Pro203=)
c.65+141C>T
c.500C>T (p.Pro167Leu)
c.561C>T (p.Pro187=)
c.464C>T (p.Pro155Leu)
c.294C>T (p.Pro98=)
c.-97C>T (n.-97C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154031255G>CCA10558588MECP2c.573C>G (p.Pro191=)
c.609C>G (p.Pro203=)
c.65+141C>G
c.500C>G (p.Pro167Arg)
c.561C>G (p.Pro187=)
c.464C>G (p.Pro155Arg)
c.294C>G (p.Pro98=)
c.-97C>G (n.-97C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154031255G=CA2466570919MECP2c.573C= (p.Pro191=)
c.609C= (p.Pro203=)
c.65+141C=
c.500C= (p.Pro167=)
c.561C= (p.Pro187=)
c.464C= (p.Pro155=)
c.294C= (p.Pro98=)
c.-97C= (n.-97C=)
Xg.154031255G>TCA415173369MECP2c.573C>A (p.Pro191=)
c.609C>A (p.Pro203=)
c.65+141C>A
c.500C>A (p.Pro167Gln)
c.561C>A (p.Pro187=)
c.464C>A (p.Pro155Gln)
c.294C>A (p.Pro98=)
c.-97C>A (n.-97C>A)
Xg.154031258delCA273835MECP2c.573del (p.Ser194AlafsTer16)
c.609del (p.Ser206AlafsTer16)
c.65+141del
c.500del (p.Pro167GlnfsTer?)
c.561del (p.Ser190AlafsTer16)
c.464del (p.Pro155GlnfsTer?)
c.294del (p.Ser101AlafsTer16)
c.-97del (n.-97del)
dbSNP
Xg.154031256G>ACA415173371MECP2c.572C>T (p.Pro191Leu)
c.608C>T (p.Pro203Leu)
c.65+140C>T
c.499C>T (p.Pro167Ser)
c.560C>T (p.Pro187Leu)
c.463C>T (p.Pro155Ser)
c.293C>T (p.Pro98Leu)
c.-98C>T (n.-98C>T)
Xg.154031256G>CCA415173375MECP2c.572C>G (p.Pro191Arg)
c.608C>G (p.Pro203Arg)
c.65+140C>G
c.499C>G (p.Pro167Ala)
c.560C>G (p.Pro187Arg)
c.463C>G (p.Pro155Ala)
c.293C>G (p.Pro98Arg)
c.-98C>G (n.-98C>G)
gnomAD v4
Xg.154031256G>TCA415173374MECP2c.572C>A (p.Pro191His)
c.608C>A (p.Pro203His)
c.65+140C>A
c.499C>A (p.Pro167Thr)
c.560C>A (p.Pro187His)
c.463C>A (p.Pro155Thr)
c.293C>A (p.Pro98His)
c.-98C>A (n.-98C>A)
Xg.154031257G>ACA415173376MECP2c.571C>T (p.Pro191Ser)
c.607C>T (p.Pro203Ser)
c.65+139C>T
c.498C>T (p.Ala166=)
c.559C>T (p.Pro187Ser)
c.462C>T (p.Ala154=)
c.292C>T (p.Pro98Ser)
c.-99C>T (n.-99C>T)
gnomAD v4
Xg.154031257G>CCA415173378MECP2c.571C>G (p.Pro191Ala)
c.607C>G (p.Pro203Ala)
c.65+139C>G
c.498C>G (p.Ala166=)
c.559C>G (p.Pro187Ala)
c.462C>G (p.Ala154=)
c.292C>G (p.Pro98Ala)
c.-99C>G (n.-99C>G)
Xg.154031257G>TCA415173379MECP2c.571C>A (p.Pro191Thr)
c.607C>A (p.Pro203Thr)
c.65+139C>A
c.498C>A (p.Ala166=)
c.559C>A (p.Pro187Thr)
c.462C>A (p.Ala154=)
c.292C>A (p.Pro98Thr)
c.-99C>A (n.-99C>A)
Xg.154031257_154031258insACA2695237596MECP2c.570_571insT (p.Pro191SerfsTer?)
c.606_607insT (p.Pro203SerfsTer?)
c.65+138_65+139insT
c.497_498insT (p.Ala170SerfsTer?)
c.558_559insT (p.Pro187SerfsTer?)
c.461_462insT (p.Ala158SerfsTer?)
c.291_292insT (p.Pro98SerfsTer?)
c.-100_-99insT (n.-100_-99insT)
Xg.154031258G>ACA10558589MECP2c.570C>T (p.Arg190=)
c.606C>T (p.Arg202=)
c.65+138C>T
c.497C>T (p.Ala166Val)
c.558C>T (p.Arg186=)
c.461C>T (p.Ala154Val)
c.291C>T (p.Arg97=)
c.-100C>T (n.-100C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154031258G>CCA415173381MECP2c.570C>G (p.Arg190=)
c.606C>G (p.Arg202=)
c.65+138C>G
c.497C>G (p.Ala166Gly)
c.558C>G (p.Arg186=)
c.461C>G (p.Ala154Gly)
c.291C>G (p.Arg97=)
c.-100C>G (n.-100C>G)
Xg.154031258G=CA2466570920MECP2c.570C= (p.Arg190=)
c.606C= (p.Arg202=)
c.65+138C=
c.497C= (p.Ala166=)
c.558C= (p.Arg186=)
c.461C= (p.Ala154=)
c.291C= (p.Arg97=)
c.-100C= (n.-100C=)
Xg.154031258G>TCA415173383MECP2c.570C>A (p.Arg190=)
c.606C>A (p.Arg202=)
c.65+138C>A
c.497C>A (p.Ala166Asp)
c.558C>A (p.Arg186=)
c.461C>A (p.Ala154Asp)
c.291C>A (p.Arg97=)
c.-100C>A (n.-100C>A)
dbSNP gnomAD v2
Xg.154031259C>ACA415173387MECP2c.569G>T (p.Arg190Leu)
c.605G>T (p.Arg202Leu)
c.65+137G>T
c.496G>T (p.Ala166Ser)
c.557G>T (p.Arg186Leu)
c.460G>T (p.Ala154Ser)
c.290G>T (p.Arg97Leu)
c.-101G>T (n.-101G>T)
Xg.154031259C=CA2466570921MECP2c.569G= (p.Arg190=)
c.605G= (p.Arg202=)
c.65+137G=
c.496G= (p.Ala166=)
c.557G= (p.Arg186=)
c.460G= (p.Ala154=)
c.290G= (p.Arg97=)
c.-101G= (n.-101G=)
Xg.154031259C>GCA415173396MECP2c.569G>C (p.Arg190Pro)
c.605G>C (p.Arg202Pro)
c.65+137G>C
c.496G>C (p.Ala166Pro)
c.557G>C (p.Arg186Pro)
c.460G>C (p.Ala154Pro)
c.290G>C (p.Arg97Pro)
c.-101G>C (n.-101G>C)
Xg.154031259C>TCA415173401MECP2c.569G>A (p.Arg190His)
c.605G>A (p.Arg202His)
c.65+137G>A
c.496G>A (p.Ala166Thr)
c.557G>A (p.Arg186His)
c.460G>A (p.Ala154Thr)
c.290G>A (p.Arg97His)
c.-101G>A (n.-101G>A)
ClinVar dbSNP

Number of alleles fetched